#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
MAGEA10	4109	broad.mit.edu	37	X	151303696	151303696	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chrX:151303696C>G	ENST00000370323.4	-	4	713	c.397G>C	c.(397-399)Gag>Cag	p.E133Q	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Missense_Mutation_p.E133Q	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	133						nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TCATCTATCTCACTTCTGGGT	0.468																																						ENST00000370323.4																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(397-399)Gag>Cag		melanoma antigen family A, 10							136.0	130.0	132.0					X																	151303696		2203	4300	6503	SO:0001583	missense	4109							g.chrX:151303696C>G		CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"""MAGE-10 antigen"", ""melanoma-associated antigen 10"", ""cancer/testis antigen family 1, member 10"""	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.397G>C	X.37:g.151303696C>G	ENSP00000359347:p.Glu133Gln					MAGEA10_ENST00000244096.3_Missense_Mutation_p.E133Q|RP11-1007I13.4_ENST00000509345.2_RNA	p.E133Q	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN			4	713	-	Acute lymphoblastic leukemia(192;6.56e-05)		133						Missense_Mutation	SNP	ENST00000370323.4	37	c.397G>C	CCDS14705.1	.	.	.	.	.	.	.	.	.	.	C	3.541	-0.093762	0.07053	.	.	ENSG00000124260	ENST00000370323;ENST00000244096;ENST00000444834;ENST00000427322	T;T;T;T	0.04360	4.63;4.63;4.09;3.64	2.54	-2.16	0.07080	.	1.291790	0.05172	N	0.499771	T	0.02342	0.0072	N	0.03967	-0.31	0.09310	N	1	B	0.23377	0.084	B	0.26517	0.07	T	0.47761	-0.9092	10	0.17832	T	0.49	.	6.1721	0.20422	0.0:0.2876:0.5722:0.1402	.	133	P43363	MAGAA_HUMAN	Q	133	ENSP00000359347:E133Q;ENSP00000244096:E133Q;ENSP00000406161:E133Q;ENSP00000391977:E133Q	ENSP00000244096:E133Q	E	-	1	0	MAGEA10	151054352	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-1.322000	0.02695	-0.725000	0.04901	0.292000	0.19580	GAG		0.468	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060916.3	NM_021048		77	39	0	0	0	1	0	77	39				
MAP3K19	80122	broad.mit.edu	37	2	135744550	135744550	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:135744550G>C	ENST00000375845.3	-	7	1922	c.1892C>G	c.(1891-1893)tCt>tGt	p.S631C	MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.S518C|MAP3K19_ENST00000392915.1_Missense_Mutation_p.S648C|MAP3K19_ENST00000392918.3_Intron	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	631							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										CGGTTGAACAGAGAGAGGAAC	0.383																																						ENST00000375845.3																			0											c.(1891-1893)tCt>tGt		mitogen-activated protein kinase kinase kinase 19							144.0	150.0	148.0					2																	135744550		2203	4300	6503	SO:0001583	missense	80122							g.chr2:135744550G>C	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.1892C>G	2.37:g.135744550G>C	ENSP00000365005:p.Ser631Cys					MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.S648C|MAP3K19_ENST00000358371.4_Missense_Mutation_p.S518C|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Intron	p.S631C	NM_025052.3	NP_079328.3					7	1922	-								B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	c.1892C>G	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	G	11.22	1.573213	0.28092	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915;ENST00000437365	T;T;T;T	0.75367	-0.86;-0.83;1.47;-0.93	5.74	5.74	0.90152	.	0.267984	0.27068	N	0.021094	T	0.65964	0.2742	L	0.36672	1.1	0.80722	D	1	B;P;B	0.45531	0.328;0.86;0.221	B;B;B	0.37198	0.104;0.243;0.048	T	0.72268	-0.4343	10	0.87932	D	0	.	16.8805	0.86061	0.0:0.1278:0.8722:0.0	.	518;648;631	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	C	631;518;648;21	ENSP00000365005:S631C;ENSP00000351140:S518C;ENSP00000376647:S648C;ENSP00000392827:S21C	ENSP00000351140:S518C	S	-	2	0	YSK4	135461020	0.996000	0.38824	0.713000	0.30519	0.020000	0.10135	2.937000	0.48979	2.702000	0.92279	0.609000	0.83330	TCT		0.383	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		15	194	0	0	0	1	0	15	194				
DIRC2	84925	broad.mit.edu	37	3	122525786	122525786	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:122525786C>G	ENST00000261038.5	+	2	824	c.426C>G	c.(424-426)atC>atG	p.I142M		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	142					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		CAGACTTAATCCTTAAAAGAA	0.328																																						ENST00000261038.5																			0				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18						c.(424-426)atC>atG		disrupted in renal carcinoma 2							115.0	108.0	110.0					3																	122525786		2203	4299	6502	SO:0001583	missense	84925				transport	integral to membrane		g.chr3:122525786C>G	AK027690	CCDS3018.1	3q21.1	2013-05-22			ENSG00000138463	ENSG00000138463		"""Solute carriers"""	16628	protein-coding gene	gene with protein product	"""renal cell carcinoma 4"", ""disrupted in renal cancer protein 2"""	602773				11912179	Standard	NM_032839		Approved	FLJ14784, RCC4	uc003efw.4	Q96SL1	OTTHUMG00000159553	ENST00000261038.5:c.426C>G	3.37:g.122525786C>G	ENSP00000261038:p.Ile142Met						p.I142M	NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN		GBM - Glioblastoma multiforme(114;0.0614)	2	824	+			142					A8K561|Q8NBX9	Missense_Mutation	SNP	ENST00000261038.5	37	c.426C>G	CCDS3018.1	.	.	.	.	.	.	.	.	.	.	G	4.863	0.160367	0.09287	.	.	ENSG00000138463	ENST00000261038	T	0.58060	0.36	4.81	-0.267	0.12938	Major facilitator superfamily domain, general substrate transporter (1);	2.106350	0.01479	N	0.016591	T	0.29588	0.0738	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.06698	-1.0812	10	0.31617	T	0.26	.	1.2491	0.01978	0.2494:0.2868:0.3254:0.1385	.	142	Q96SL1	DIRC2_HUMAN	M	142	ENSP00000261038:I142M	ENSP00000261038:I142M	I	+	3	3	DIRC2	124008476	0.498000	0.26075	0.030000	0.17652	0.882000	0.50991	0.065000	0.14466	-0.513000	0.06496	-1.289000	0.01358	ATC		0.328	DIRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356180.2	NM_032839		6	81	0	0	0	1	0	6	81				
RECQL5	9400	broad.mit.edu	37	17	73661146	73661146	+	Silent	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr17:73661146G>C	ENST00000317905.5	-	3	396	c.237C>G	c.(235-237)ctC>ctG	p.L79L	RECQL5_ENST00000420326.2_Silent_p.L79L|SAP30BP_ENST00000584667.1_5'Flank|RECQL5_ENST00000340830.5_Silent_p.L79L|RECQL5_ENST00000584999.1_Silent_p.L79L|SAP30BP_ENST00000355423.3_5'Flank|RECQL5_ENST00000423245.2_Silent_p.L52L	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	79	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			TCAAAGCAATGAGAGGAGAGA	0.483								Other identified genes with known or suspected DNA repair function																														ENST00000420326.2																			0				breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36						c.(235-237)ctC>ctG	Other identified genes with known or suspected DNA repair function	RecQ protein-like 5							213.0	200.0	205.0					17																	73661146		2203	4300	6503	SO:0001819	synonymous_variant	9400				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	g.chr17:73661146G>C	AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"""RecQ protein 5"""	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.237C>G	17.37:g.73661146G>C						RECQL5_ENST00000340830.5_Silent_p.L79L|RECQL5_ENST00000423245.2_Silent_p.L52L|RECQL5_ENST00000584999.1_Silent_p.L79L|RECQL5_ENST00000317905.5_Silent_p.L79L	p.L79L	NM_001003715.3|NM_001003716.3	NP_001003715.1|NP_001003716.1	O94762	RECQ5_HUMAN	all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)		3	396	-	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		79			Helicase ATP-binding.		Q9H0B1|Q9P1W7|Q9UNC8	Silent	SNP	ENST00000317905.5	37	c.237C>G	CCDS42380.1																																																																																				0.483	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1	NM_004259		246	63	0	0	0	1	0	246	63				
MUC5AC	4586	broad.mit.edu	37	11	1162014	1162014	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:1162014C>T	ENST00000356191.2	+	19	1596	c.1596C>T	c.(1594-1596)atC>atT	p.I532I				P98088	MUC5A_HUMAN	mucin 5AC, oligomeric mucus/gel-forming	535	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|extracellular fibril organization (GO:0043206)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|fibril (GO:0043205)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		CCTTCTTCATCATCGCCCAGA	0.647																																						ENST00000356191.2																			0				NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203						c.(1594-1596)atC>atT		mucin 5AC, oligomeric mucus/gel-forming							84.0	78.0	80.0					11																	1162014		873	1990	2863	SO:0001819	synonymous_variant	4586							g.chr11:1162014C>T	AJ001402, AJ298317		11p15.5	2007-04-23	2006-03-14		ENSG00000215182	ENSG00000215182		"""Mucins"""	7515	protein-coding gene	gene with protein product		158373	"""mucin 5, subtypes A and C, tracheobronchial/gastric"""			7826332, 9588204	Standard	XM_006709945		Approved	MUC5	uc001lsz.3	P98088	OTTHUMG00000154270	ENST00000356191.2:c.1596C>T	11.37:g.1162014C>T							p.I532I						BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)	19	1596	+		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)						O60460|O76065|Q13792|Q14425|Q658Q1|Q7M4S5|Q8N4M9|Q8WWQ3|Q8WWQ4|Q8WWQ5	Silent	SNP	ENST00000356191.2	37	c.1596C>T																																																																																					0.647	MUC5AC-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_001130382		7	113	0	0	0	1	0	7	113				
CCDC22	28952	broad.mit.edu	37	X	49104913	49104913	+	Nonsense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chrX:49104913C>T	ENST00000376227.3	+	11	1428	c.1258C>T	c.(1258-1260)Cag>Tag	p.Q420*		NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN	coiled-coil domain containing 22	420										NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						CTTGGCGGGTCAGTGGGAGAA	0.647																																						ENST00000376227.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						c.(1258-1260)Cag>Tag		coiled-coil domain containing 22							39.0	33.0	35.0					X																	49104913		2202	4299	6501	SO:0001587	stop_gained	28952							g.chrX:49104913C>T	BC000972	CCDS14322.1	Xp11.23	2008-02-05	2005-07-24	2005-07-24	ENSG00000101997	ENSG00000101997			28909	protein-coding gene	gene with protein product		300859	"""chromosome X open reading frame 37"""	CXorf37		12477932	Standard	NM_014008		Approved	JM1	uc004dnd.2	O60826	OTTHUMG00000024141	ENST00000376227.3:c.1258C>T	X.37:g.49104913C>T	ENSP00000365401:p.Gln420*						p.Q420*	NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN			11	1428	+			420					A8K7G1	Nonsense_Mutation	SNP	ENST00000376227.3	37	c.1258C>T	CCDS14322.1	.	.	.	.	.	.	.	.	.	.	C	39	7.856023	0.98528	.	.	ENSG00000101997	ENST00000376227;ENST00000538876	.	.	.	5.19	5.19	0.71726	.	0.120350	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-25.1392	16.5218	0.84319	0.0:1.0:0.0:0.0	.	.	.	.	X	420	.	ENSP00000365401:Q420X	Q	+	1	0	CCDC22	48991857	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	6.582000	0.74049	2.157000	0.67596	0.436000	0.28706	CAG		0.647	CCDC22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060822.1	NM_014008		33	6	0	0	0	1	0	33	6				
TRMT2A	27037	broad.mit.edu	37	22	20103616	20103616	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr22:20103616C>T	ENST00000252136.7	-	2	932	c.544G>A	c.(544-546)Gag>Aag	p.E182K	TRMT2A_ENST00000404751.3_Missense_Mutation_p.E182K|RANBP1_ENST00000430524.1_5'UTR|TRMT2A_ENST00000439169.2_Missense_Mutation_p.E182K|RANBP1_ENST00000331821.3_5'Flank|RANBP1_ENST00000402752.1_5'Flank|TRMT2A_ENST00000403707.3_Missense_Mutation_p.E182K|TRMT2A_ENST00000492988.1_5'Flank	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)	182					RNA processing (GO:0006396)		nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)			breast(2)|endometrium(2)|lung(5)	9						TCAAGCTGCTCAGCATAGGGC	0.637																																						ENST00000252136.7																			0				breast(2)|endometrium(2)|lung(5)	9						c.(544-546)Gag>Aag		tRNA methyltransferase 2 homolog A (S. cerevisiae)							77.0	74.0	75.0					22																	20103616		2203	4300	6503	SO:0001583	missense	27037				RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity	g.chr22:20103616C>T	BC017184	CCDS13774.1, CCDS58793.1	22q11.21	2014-02-12	2012-06-12		ENSG00000099899	ENSG00000099899			24974	protein-coding gene	gene with protein product	"""HpaII tiny fragments locus 9C"""	611151				9417108, 18075473	Standard	NM_022727		Approved	HTF9C	uc002zrl.2	Q8IZ69	OTTHUMG00000150454	ENST00000252136.7:c.544G>A	22.37:g.20103616C>T	ENSP00000252136:p.Glu182Lys					TRMT2A_ENST00000439169.2_Missense_Mutation_p.E182K|RANBP1_ENST00000430524.1_5'UTR|TRMT2A_ENST00000403707.3_Missense_Mutation_p.E182K|TRMT2A_ENST00000404751.3_Missense_Mutation_p.E182K	p.E182K	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN			2	932	-			182					D3DX25|Q32P57|Q96ME6|Q9H732	Missense_Mutation	SNP	ENST00000252136.7	37	c.544G>A	CCDS13774.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.955823	0.92726	.	.	ENSG00000099899	ENST00000252136;ENST00000403707;ENST00000404751;ENST00000439169	T;T;T	0.55588	0.54;0.54;0.51	5.34	5.34	0.76211	.	0.049315	0.85682	D	0.000000	T	0.64757	0.2627	M	0.74258	2.255	0.80722	D	1	D;P;P	0.63880	0.993;0.583;0.583	P;B;B	0.54174	0.744;0.42;0.326	T	0.64183	-0.6467	10	0.33141	T	0.24	-45.3468	15.3223	0.74132	0.0:0.8597:0.1403:0.0	.	182;182;182	B4E213;F2Z2W7;Q8IZ69	.;.;TRM2A_HUMAN	K	182	ENSP00000252136:E182K;ENSP00000385807:E182K;ENSP00000395738:E182K	ENSP00000252136:E182K	E	-	1	0	TRMT2A	18483616	1.000000	0.71417	0.955000	0.39395	0.993000	0.82548	5.480000	0.66820	2.523000	0.85059	0.491000	0.48974	GAG		0.637	TRMT2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318168.3	NM_022727		64	76	0	0	0	1	0	64	76				
STON1	11037	broad.mit.edu	37	2	48807989	48807989	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:48807989C>G	ENST00000406226.1	+	3	412	c.217C>G	c.(217-219)Cca>Gca	p.P73A	STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.P73A|STON1_ENST00000404752.1_Missense_Mutation_p.P73A|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.P73A|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.P73A|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.P73A|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.P73A|STON1_ENST00000309835.3_Missense_Mutation_p.P73A	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	73					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTATTTCAGTCCAGGACCTCC	0.498																																						ENST00000309835.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37						c.(217-219)Cca>Gca		stonin 1							132.0	134.0	133.0					2																	48807989		2203	4300	6503	SO:0001583	missense	11037							g.chr2:48807989C>G	AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"""stoned B homolog 1 (Drosophila)"""	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.217C>G	2.37:g.48807989C>G	ENSP00000384615:p.Pro73Ala					STON1_ENST00000406226.1_Missense_Mutation_p.P73A|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.P73A|STON1_ENST00000404752.1_Missense_Mutation_p.P73A|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.P73A|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.P73A|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.P73A|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.P73A	p.P73A					Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		1	227	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)						A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Missense_Mutation	SNP	ENST00000406226.1	37	c.217C>G	CCDS1841.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.541186	0.65085	.	.	ENSG00000243244;ENSG00000243244;ENSG00000243244;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781	ENST00000404752;ENST00000406226;ENST00000309835;ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751	T;T;T;T;T;T;T;T	0.10005	2.95;2.95;2.95;2.94;2.92;2.94;2.94;3.11	5.34	5.34	0.76211	.	0.160816	0.56097	D	0.000026	T	0.32823	0.0842	M	0.63843	1.955	0.40293	D	0.978524	D;D;D	0.89917	0.996;1.0;0.983	P;D;P	0.83275	0.883;0.996;0.656	T	0.00406	-1.1759	10	0.46703	T	0.11	.	19.5946	0.95530	0.0:1.0:0.0:0.0	.	73;73;73	A8MXJ1;Q53S48;Q9Y6Q2	.;.;STON1_HUMAN	A	73	ENSP00000385273:P73A;ENSP00000384615:P73A;ENSP00000310969:P73A;ENSP00000385499:P73A;ENSP00000385701:P73A;ENSP00000378236:P73A;ENSP00000311493:P73A;ENSP00000378234:P73A	ENSP00000310969:P73A	P	+	1	0	STON1-GTF2A1L;STON1	48661493	0.988000	0.35896	1.000000	0.80357	0.986000	0.74619	2.868000	0.48436	2.937000	0.99478	0.650000	0.86243	CCA		0.498	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323848.2	NM_006873		11	137	0	0	0	1	0	11	137				
ZNF462	58499	broad.mit.edu	37	9	109692023	109692023	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:109692023G>C	ENST00000277225.5	+	3	6119	c.5830G>C	c.(5830-5832)Gat>Cat	p.D1944H	ZNF462_ENST00000441147.2_Missense_Mutation_p.D789H|ZNF462_ENST00000457913.1_Missense_Mutation_p.D1944H|ZNF462_ENST00000497489.1_3'UTR|ZNF462_ENST00000542028.1_5'Flank			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1944					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TGCTTTTGCAGATTTCAAACA	0.473																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(5830-5832)Gat>Cat		zinc finger protein 462							111.0	108.0	109.0					9																	109692023		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109692023G>C	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.5830G>C	9.37:g.109692023G>C	ENSP00000277225:p.Asp1944His					ZNF462_ENST00000497489.1_3'UTR|ZNF462_ENST00000441147.2_Missense_Mutation_p.D789H|ZNF462_ENST00000457913.1_Missense_Mutation_p.D1944H	p.D1944H			Q96JM2	ZN462_HUMAN			3	6119	+			1944					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.5830G>C	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.119024	0.56505	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147	T;T;T;T	0.05649	3.41;3.84;3.84;3.95	5.92	5.92	0.95590	.	0.229362	0.45867	D	0.000321	T	0.14399	0.0348	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.72075	0.976;0.956	T	0.31696	-0.9934	10	0.15499	T	0.54	.	20.3206	0.98668	0.0:0.0:1.0:0.0	.	1944;1944	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	H	1944;1944;827;789	ENSP00000277225:D1944H;ENSP00000414570:D1944H;ENSP00000363818:D827H;ENSP00000397306:D789H	ENSP00000277225:D1944H	D	+	1	0	ZNF462	108731844	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.937000	0.92936	2.813000	0.96785	0.561000	0.74099	GAT		0.473	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		8	93	0	0	0	1	0	8	93				
PIBF1	10464	broad.mit.edu	37	13	73372107	73372107	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr13:73372107G>T	ENST00000326291.6	+	5	953	c.615G>T	c.(613-615)aaG>aaT	p.K205N		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	205						centrosome (GO:0005813)				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		AAGTGAAAAAGAATATCCTAG	0.353																																						ENST00000326291.6																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24						c.(613-615)aaG>aaT		progesterone immunomodulatory binding factor 1							103.0	109.0	107.0					13																	73372107		2203	4300	6503	SO:0001583	missense	10464					centrosome		g.chr13:73372107G>T	AF330046	CCDS31991.1	13q21.33	2014-02-20	2007-10-17	2007-10-17	ENSG00000083535	ENSG00000083535			23352	protein-coding gene	gene with protein product	"""progesterone-induced blocking factor 1"""	607532	"""chromosome 13 open reading frame 24"""	C13orf24		11935316	Standard	NM_006346		Approved	CEP90	uc001vjc.3	Q8WXW3	OTTHUMG00000017071	ENST00000326291.6:c.615G>T	13.37:g.73372107G>T	ENSP00000317144:p.Lys205Asn						p.K205N	NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN		GBM - Glioblastoma multiforme(99;0.000664)	5	953	+		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)	205					O95664|Q6U9V2|Q6UG50|Q86V07|Q96SF4	Missense_Mutation	SNP	ENST00000326291.6	37	c.615G>T	CCDS31991.1	.	.	.	.	.	.	.	.	.	.	G	9.622	1.134136	0.21123	.	.	ENSG00000083535	ENST00000326291;ENST00000538949	T	0.07216	3.21	5.31	5.31	0.75309	.	0.237069	0.49305	D	0.000157	T	0.16085	0.0387	L	0.50919	1.6	0.49483	D	0.999791	D;D	0.56746	0.977;0.959	P;P	0.55923	0.787;0.714	T	0.02431	-1.1160	10	0.23302	T	0.38	-13.6008	12.3471	0.55126	0.0773:0.0:0.9227:0.0	.	205;205	Q8WXW3;Q4G0R1	PIBF1_HUMAN;.	N	205	ENSP00000317144:K205N	ENSP00000317144:K205N	K	+	3	2	PIBF1	72270108	0.944000	0.32072	0.981000	0.43875	0.175000	0.22909	1.664000	0.37439	2.486000	0.83907	0.650000	0.86243	AAG		0.353	PIBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045255.1	NM_006346		57	87	1	0	7.71302e-15	1	7.99247e-15	57	87				
ANKRD1	27063	broad.mit.edu	37	10	92675632	92675632	+	Silent	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr10:92675632G>C	ENST00000371697.3	-	7	905	c.657C>G	c.(655-657)ctC>ctG	p.L219L		NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN	ankyrin repeat domain 1 (cardiac muscle)	219					cardiac muscle tissue morphogenesis (GO:0055008)|cellular lipid metabolic process (GO:0044255)|cellular response to drug (GO:0035690)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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 projection development (GO:0010976)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muscle stretch (GO:0035994)|sarcomere organization (GO:0045214)|skeletal muscle cell differentiation (GO:0035914)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I band (GO:0031674)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|p53 binding (GO:0002039)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|titin binding (GO:0031432)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				GCGCTGTGCTGAGCAACTGGA	0.557																																						ENST00000371697.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27						c.(655-657)ctC>ctG		ankyrin repeat domain 1 (cardiac muscle)							36.0	32.0	34.0					10																	92675632		2203	4300	6503	SO:0001819	synonymous_variant	27063				cellular lipid metabolic process|defense response|signal transduction		DNA binding	g.chr10:92675632G>C	X83703	CCDS7412.1	10q23.33	2014-09-17			ENSG00000148677	ENSG00000148677		"""Ankyrin repeat domain containing"""	15819	protein-coding gene	gene with protein product		609599				7730328	Standard	NM_014391		Approved	C-193, ALRP, CARP, CVARP, MCARP	uc001khe.1	Q15327	OTTHUMG00000018734	ENST00000371697.3:c.657C>G	10.37:g.92675632G>C							p.L219L	NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN			7	905	-		Colorectal(252;0.0475)	219					Q96LE7	Silent	SNP	ENST00000371697.3	37	c.657C>G	CCDS7412.1																																																																																				0.557	ANKRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049357.1	NM_014391		11	20	0	0	0	1	0	11	20				
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T	ANKRD36C_ENST00000295246.5_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	634							ion channel inhibitor activity (GO:0008200)	p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.I634T(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1900-1902)aTa>aCa		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593000A>G	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1901T>C	2.37:g.96593000A>G	ENSP00000403302:p.Ile634Thr						p.I634T							28	1985	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1901T>C		.	.	.	.	.	.	.	.	.	.	a	7.838	0.721224	0.15372	.	.	ENSG00000174501	ENST00000456556	T	0.77229	-1.08	0.578	-1.16	0.09678	.	.	.	.	.	T	0.70718	0.3256	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.56153	-0.8026	6	0.08381	T	0.77	.	.	.	.	.	.	.	.	T	634	ENSP00000403302:I634T	ENSP00000403302:I634T	I	-	2	0	AC073995.2	95956727	0.016000	0.18221	0.004000	0.12327	0.101000	0.19017	0.588000	0.23924	-0.580000	0.05944	0.163000	0.16589	ATA		0.338	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		3	55	0	0	0	1	0	3	55				
KRT40	125115	broad.mit.edu	37	17	39137332	39137332	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr17:39137332G>C	ENST00000398486.2	-	6	919	c.759C>G	c.(757-759)gaC>gaG	p.D253E	KRT40_ENST00000377755.4_Missense_Mutation_p.D253E	NM_182497.3	NP_872303.2	Q6A162	K1C40_HUMAN	keratin 40	253	Coil 2.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				CCCTGTTGAGGTCAAGGGTGG	0.537																																						ENST00000377755.4																			0				endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(757-759)gaC>gaG		keratin 40							137.0	145.0	143.0					17																	39137332		2062	4208	6270	SO:0001583	missense	125115					intermediate filament	structural molecule activity	g.chr17:39137332G>C	AK093919	CCDS42320.1	17q21.2	2013-01-16			ENSG00000204889	ENSG00000204889		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	26707	protein-coding gene	gene with protein product						16831889	Standard	NM_182497		Approved	FLJ36600, KA36	uc010cxh.1	Q6A162	OTTHUMG00000133596	ENST00000398486.2:c.759C>G	17.37:g.39137332G>C	ENSP00000381500:p.Asp253Glu					KRT40_ENST00000398486.2_Missense_Mutation_p.D253E	p.D253E			Q6A162	K1C40_HUMAN			4	793	-		Breast(137;0.00043)	253			Coil 2.|Rod.		Q6IFU5	Missense_Mutation	SNP	ENST00000398486.2	37	c.759C>G	CCDS42320.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.718815	0.89205	.	.	ENSG00000204889	ENST00000377755;ENST00000398486	D;D	0.90676	-2.71;-2.71	5.4	3.39	0.38822	Filament (1);	0.000000	0.35525	N	0.003149	D	0.95862	0.8653	M	0.93016	3.37	0.43808	D	0.996368	D	0.89917	1.0	D	0.97110	1.0	D	0.96259	0.9189	10	0.87932	D	0	.	11.9484	0.52940	0.1494:0.0:0.8506:0.0	.	253	Q6A162	K1C40_HUMAN	E	253	ENSP00000366984:D253E;ENSP00000381500:D253E	ENSP00000366984:D253E	D	-	3	2	KRT40	36390858	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.072000	0.57563	1.413000	0.46997	0.655000	0.94253	GAC		0.537	KRT40-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257701.3	NM_182497		63	95	0	0	0	1	0	63	95				
ARHGAP39	80728	broad.mit.edu	37	8	145758701	145758701	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr8:145758701C>T	ENST00000276826.5	-	7	2805	c.2604G>A	c.(2602-2604)aaG>aaA	p.K868K	ARHGAP39_ENST00000540274.1_Silent_p.K868K|ARHGAP39_ENST00000377307.2_Silent_p.K899K			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	868	MyTH4. {ECO:0000255|PROSITE- ProRule:PRU00359}.				axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						CGTTGGGCTTCTTCAGCCCCT	0.632																																						ENST00000276826.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(2602-2604)aaG>aaA		Rho GTPase activating protein 39							58.0	50.0	53.0					8																	145758701		2201	4300	6501	SO:0001819	synonymous_variant	80728				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	g.chr8:145758701C>T		CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"""Rho GTPase activating proteins"""	29351	protein-coding gene	gene with protein product	"""RhoGAP93B homolog (Drosophila)"", ""crossGAP homolog (Drosophila)"""	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.2604G>A	8.37:g.145758701C>T						ARHGAP39_ENST00000540274.1_Silent_p.K868K|ARHGAP39_ENST00000377307.2_Silent_p.K899K	p.K868K			Q9C0H5	RHG39_HUMAN			7	2805	-			868			MyTH4.		B4E1I1	Silent	SNP	ENST00000276826.5	37	c.2604G>A																																																																																					0.632	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1			25	37	0	0	0	1	0	25	37				
UTP20	27340	broad.mit.edu	37	12	101679386	101679386	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:101679386G>C	ENST00000261637.4	+	3	339	c.165G>C	c.(163-165)tgG>tgC	p.W55C		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	55					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TGCTGAAATGGAGAGAATTAA	0.343																																						ENST00000261637.4																			0				NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(163-165)tgG>tgC		UTP20, small subunit (SSU) processome component, homolog (yeast)							131.0	130.0	130.0					12																	101679386		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101679386G>C	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.165G>C	12.37:g.101679386G>C	ENSP00000261637:p.Trp55Cys						p.W55C	NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN			3	339	+			55					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.165G>C	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.645526	0.67358	.	.	ENSG00000120800	ENST00000261637	T	0.50813	0.73	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.73721	0.3623	M	0.90198	3.095	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79692	-0.1697	10	0.87932	D	0	-8.3137	14.551	0.68068	0.0:0.0:0.8531:0.1469	.	55	O75691	UTP20_HUMAN	C	55	ENSP00000261637:W55C	ENSP00000261637:W55C	W	+	3	0	UTP20	100203517	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.664000	0.83830	2.500000	0.84329	0.650000	0.86243	TGG		0.343	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		26	49	0	0	0	1	0	26	49				
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		899	Substitution - Missense(899)	p.E545K(881)|p.E545Q(18)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1633-1635)Gag>Aag		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936091G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545K	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1790	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1633G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			53	28	0	0	0	1	0	53	28				
ZNF562	54811	broad.mit.edu	37	19	9763909	9763909	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:9763909G>C	ENST00000448622.1	-	6	1159	c.997C>G	c.(997-999)Caa>Gaa	p.Q333E	ZNF562_ENST00000453792.2_Missense_Mutation_p.Q264E|ZNF562_ENST00000453372.2_Missense_Mutation_p.Q333E|ZNF562_ENST00000537617.1_Missense_Mutation_p.Q217E|ZNF562_ENST00000541032.1_Missense_Mutation_p.Q296E|ZNF562_ENST00000590155.1_Missense_Mutation_p.Q332E|ZNF562_ENST00000293648.4_Missense_Mutation_p.Q261E	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN	zinc finger protein 562	333					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						CTTACATGTTGAGTAAGGTGA	0.403																																						ENST00000448622.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(997-999)Caa>Gaa		zinc finger protein 562							163.0	150.0	155.0					19																	9763909		2203	4300	6503	SO:0001583	missense	54811				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9763909G>C	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.997C>G	19.37:g.9763909G>C	ENSP00000411784:p.Gln333Glu					ZNF562_ENST00000541032.1_Missense_Mutation_p.Q296E|ZNF562_ENST00000453372.2_Missense_Mutation_p.Q333E|ZNF562_ENST00000590155.1_Missense_Mutation_p.Q332E|ZNF562_ENST00000293648.4_Missense_Mutation_p.Q261E|ZNF562_ENST00000453792.2_Missense_Mutation_p.Q264E|ZNF562_ENST00000537617.1_Missense_Mutation_p.Q217E	p.Q333E	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN			6	1159	-			333					Q32MN2|Q9NXS5	Missense_Mutation	SNP	ENST00000448622.1	37	c.997C>G	CCDS45956.1	.	.	.	.	.	.	.	.	.	.	G	0.054	-1.240802	0.01493	.	.	ENSG00000171466	ENST00000453372;ENST00000448622;ENST00000293648;ENST00000541032;ENST00000453792;ENST00000537617	T;T;T;T;T;T	0.06608	3.28;3.28;3.28;3.28;3.28;3.28	1.63	-2.85	0.05734	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01835	0.0058	N	0.04203	-0.255	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.001;0.0;0.001;0.001	T	0.43940	-0.9360	9	0.02654	T	1	.	1.4819	0.02438	0.1858:0.2549:0.4005:0.1588	.	217;332;296;333;261	F5H1B4;B4DMG0;B4DZP9;Q6V9R5;Q6V9R5-2	.;.;.;ZN562_HUMAN;.	E	333;333;261;296;264;217	ENSP00000410734:Q333E;ENSP00000411784:Q333E;ENSP00000293648:Q261E;ENSP00000442614:Q296E;ENSP00000440451:Q264E;ENSP00000445816:Q217E	ENSP00000293648:Q261E	Q	-	1	0	ZNF562	9624909	0.000000	0.05858	0.002000	0.10522	0.827000	0.46813	-12.950000	0.00001	-0.598000	0.05806	0.306000	0.20318	CAA		0.403	ZNF562-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450239.1	NM_017656		37	74	0	0	0	1	0	37	74				
POLG	5428	broad.mit.edu	37	15	89873462	89873462	+	Nonsense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr15:89873462C>T	ENST00000268124.5	-	3	1038	c.705G>A	c.(703-705)tgG>tgA	p.W235*	POLG_ENST00000525806.1_5'Flank|POLG_ENST00000442287.2_Nonsense_Mutation_p.W235*	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	235					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			GCTGGCTGGTCCAAGAGTAAC	0.617								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)	ENST00000268124.5																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33						c.(703-705)tgG>tgA	DNA polymerases (catalytic subunits)	polymerase (DNA directed), gamma							32.0	33.0	33.0					15																	89873462		2200	4299	6499	SO:0001587	stop_gained	5428				base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	g.chr15:89873462C>T	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"""DNA polymerases"""	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.705G>A	15.37:g.89873462C>T	ENSP00000268124:p.Trp235*					POLG_ENST00000442287.2_Nonsense_Mutation_p.W235*	p.W235*	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	STAD - Stomach adenocarcinoma(125;0.165)		3	1038	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		235					Q8NFM2|Q92515	Nonsense_Mutation	SNP	ENST00000268124.5	37	c.705G>A	CCDS10350.1	.	.	.	.	.	.	.	.	.	.	C	41	8.998524	0.99031	.	.	ENSG00000140521	ENST00000268124;ENST00000442287	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-13.5666	19.9416	0.97165	0.0:1.0:0.0:0.0	.	.	.	.	X	235	.	ENSP00000268124:W235X	W	-	3	0	POLG	87674466	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.705000	0.84606	2.797000	0.96272	0.655000	0.94253	TGG		0.617	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	NM_002693		20	51	0	0	0	1	0	20	51				
IGHV1-46	28465	broad.mit.edu	37	14	106967404	106967404	+	RNA	SNP	C	C	G	rs369447991		TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr14:106967404C>G	ENST00000390622.2	-	0	350									immunoglobulin heavy variable 1-46																		TGGAAAAAATCCCTTCCTCAG	0.547																																						ENST00000390622.2																			0															C		0,3802		0,0,1901	92.0	95.0	94.0			-4.8	0.0	14		94	1,8253		0,1,4126	no	intergenic				0,1,6027	GG,GC,CC		0.0121,0.0,0.0083			106967404	1,12055	1901	4127	6028			28465							g.chr14:106967404C>G	X92343		14q32.33	2012-02-08			ENSG00000211962	ENSG00000211962		"""Immunoglobulins / IGH locus"""	5554	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151963		14.37:g.106967404C>G														0	350	-									RNA	SNP	ENST00000390622.2	37																																																																																						0.547	IGHV1-46-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324609.1	NG_001019		54	74	0	0	0	1	0	54	74				
JAKMIP2	9832	broad.mit.edu	37	5	147020328	147020328	+	Nonsense_Mutation	SNP	G	G	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr5:147020328G>T	ENST00000265272.5	-	9	1807	c.1340C>A	c.(1339-1341)tCa>tAa	p.S447*	JAKMIP2_ENST00000507386.1_Nonsense_Mutation_p.S447*|JAKMIP2_ENST00000333010.6_Nonsense_Mutation_p.S405*	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	447						Golgi apparatus (GO:0005794)				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCATGGATGATGTCTCTGA	0.428																																						ENST00000265272.5																			0				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64						c.(1339-1341)tCa>tAa		janus kinase and microtubule interacting protein 2							152.0	129.0	137.0					5																	147020328		2203	4300	6503	SO:0001587	stop_gained	9832					Golgi apparatus		g.chr5:147020328G>T	AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.1340C>A	5.37:g.147020328G>T	ENSP00000265272:p.Ser447*					JAKMIP2_ENST00000333010.6_Nonsense_Mutation_p.S405*|JAKMIP2_ENST00000507386.1_Nonsense_Mutation_p.S447*	p.S447*	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		9	1807	-			447					A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Nonsense_Mutation	SNP	ENST00000265272.5	37	c.1340C>A	CCDS4285.1	.	.	.	.	.	.	.	.	.	.	G	44	10.713006	0.99455	.	.	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000333010;ENST00000539401	.	.	.	5.85	5.85	0.93711	.	0.057047	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.5471	0.99284	0.0:0.0:1.0:0.0	.	.	.	.	X	447;447;405;447	.	ENSP00000265272:S447X	S	-	2	0	JAKMIP2	147000521	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.363000	0.97131	2.941000	0.99782	0.655000	0.94253	TCA		0.428	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	NM_014790		27	28	1	0	4.72057e-08	1	4.82173e-08	27	28				
PIK3C2A	5286	broad.mit.edu	37	11	17191186	17191186	+	Nonsense_Mutation	SNP	C	C	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:17191186C>A	ENST00000265970.7	-	1	102	c.103G>T	c.(103-105)Gaa>Taa	p.E35*	PIK3C2A_ENST00000540361.1_Intron|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	35	Interaction with clathrin; sufficient to induce clathrin assemby.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						GCCTCTGCTTCCATCTGTAAT	0.423																																						ENST00000265970.7																			0				central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(103-105)Gaa>Taa		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	Phosphatidylserine(DB00144)						200.0	193.0	195.0					11																	17191186		2200	4293	6493	SO:0001587	stop_gained	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17191186C>A	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.103G>T	11.37:g.17191186C>A	ENSP00000265970:p.Glu35*					PIK3C2A_ENST00000540361.1_Intron|PIK3C2A_ENST00000531428.1_Intron	p.E35*	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN			1	102	-			35			Interaction with clathrin.		B0LPH2|B4E2G4|Q14CQ9	Nonsense_Mutation	SNP	ENST00000265970.7	37	c.103G>T	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.471012	0.84533	.	.	ENSG00000011405	ENST00000265970;ENST00000544896;ENST00000532035	.	.	.	5.23	5.23	0.72850	.	0.162701	0.53938	D	0.000045	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.9493	18.7951	0.91991	0.0:1.0:0.0:0.0	.	.	.	.	X	35	.	ENSP00000265970:E35X	E	-	1	0	PIK3C2A	17147762	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.129000	0.77225	2.447000	0.82792	0.484000	0.47621	GAA		0.423	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		65	102	1	0	1.1362e-29	1	1.19688e-29	65	102				
ZNF365	22891	broad.mit.edu	37	10	64415248	64415248	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr10:64415248C>T	ENST00000395251.1	+	4	582	c.248C>T	c.(247-249)tCa>tTa	p.S83L	ZNF365_ENST00000395249.1_Intron|AC067751.1_ENST00000579246.1_RNA|ZNF365_ENST00000410046.3_Intron	NM_199452.3	NP_955524	Q70YC4	TALAN_HUMAN	zinc finger protein 365	83										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					TCAGGTAATTCATCAGATCTG	0.527																																						ENST00000395251.1																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(247-249)tCa>tTa		zinc finger protein 365							145.0	114.0	124.0					10																	64415248		2203	4300	6503	SO:0001583	missense	22891							g.chr10:64415248C>T	AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"""Zinc fingers, C2H2-type"""	18194	protein-coding gene	gene with protein product	"""Talanin"""	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395251.1:c.248C>T	10.37:g.64415248C>T	ENSP00000378672:p.Ser83Leu					ZNF365_ENST00000395249.1_Intron|ZNF365_ENST00000410046.3_Intron	p.S83L	NM_199452.3	NP_955524.3	Q70YC4	TALAN_HUMAN			4	582	+	Prostate(12;0.0297)|all_hematologic(501;0.228)		83						Missense_Mutation	SNP	ENST00000395251.1	37	c.248C>T	CCDS7265.1	.	.	.	.	.	.	.	.	.	.	C	12.50	1.956546	0.34565	.	.	ENSG00000138311	ENST00000395251	T	0.54479	0.57	4.75	3.84	0.44239	.	.	.	.	.	T	0.31420	0.0796	N	0.08118	0	0.27825	N	0.94164	P	0.46142	0.873	B	0.40101	0.319	T	0.11012	-1.0605	9	0.87932	D	0	.	8.1967	0.31400	0.0:0.8895:0.0:0.1105	.	83	Q70YC4	TALAN_HUMAN	L	83	ENSP00000378672:S83L	ENSP00000378672:S83L	S	+	2	0	ZNF365	64085254	0.005000	0.15991	0.008000	0.14137	0.026000	0.11368	0.891000	0.28309	1.311000	0.45024	0.655000	0.94253	TCA		0.527	ZNF365-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277036.1	NM_014951		31	60	0	0	0	1	0	31	60				
NRP2	8828	broad.mit.edu	37	2	206659508	206659508	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:206659508C>T	ENST00000357785.5	+	17	2538	c.2507C>T	c.(2506-2508)tCt>tTt	p.S836F	NRP2_ENST00000540178.1_Missense_Mutation_p.S836F|NRP2_ENST00000412873.2_Missense_Mutation_p.S819F|NRP2_ENST00000360409.3_Missense_Mutation_p.S841F|NRP2_ENST00000540841.1_Missense_Mutation_p.S819F			Q99435	NELL2_HUMAN	neuropilin 2	0						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						AGCAATTCTTCTTCTGCAACC	0.527																																						ENST00000360409.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						c.(2521-2523)tCt>tTt		neuropilin 2							89.0	84.0	86.0					2																	206659508		2203	4300	6503	SO:0001583	missense	8828				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	g.chr2:206659508C>T	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.2507C>T	2.37:g.206659508C>T	ENSP00000350432:p.Ser836Phe					NRP2_ENST00000540178.1_Missense_Mutation_p.S836F|NRP2_ENST00000540841.1_Missense_Mutation_p.S819F|NRP2_ENST00000357785.5_Missense_Mutation_p.S836F|NRP2_ENST00000412873.2_Missense_Mutation_p.S819F	p.S841F	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN			17	3313	+			841					B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000357785.5	37	c.2522C>T	CCDS46496.1	.	.	.	.	.	.	.	.	.	.	C	9.993	1.231318	0.22626	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000357785;ENST00000412873	D;D;D;D;D	0.88046	-2.26;-2.29;-2.24;-2.32;-2.33	5.93	5.93	0.95920	.	0.390692	0.26840	N	0.022232	T	0.72977	0.3528	N	0.08118	0	0.80722	D	1	B;B;P	0.37015	0.003;0.001;0.578	B;B;B	0.31290	0.003;0.004;0.127	T	0.76653	-0.2880	10	0.66056	D	0.02	-18.9415	11.2704	0.49136	0.0:0.8915:0.0:0.1085	.	819;836;841	O60462-2;O60462-3;O60462	.;.;NRP2_HUMAN	F	841;836;819;836;819	ENSP00000353582:S841F;ENSP00000439658:S836F;ENSP00000439261:S819F;ENSP00000350432:S836F;ENSP00000407626:S819F	ENSP00000350432:S836F	S	+	2	0	NRP2	206367753	0.730000	0.28100	0.982000	0.44146	0.167000	0.22549	4.644000	0.61397	2.826000	0.97356	0.655000	0.94253	TCT		0.527	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1			51	77	0	0	0	1	0	51	77				
KIAA0408	9729	broad.mit.edu	37	6	127767753	127767753	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:127767753C>T	ENST00000483725.3	-	5	2047	c.1711G>A	c.(1711-1713)Gag>Aag	p.E571K	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	571										endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		GTTGCTGTCTCATAGGTTTTC	0.463																																						ENST00000483725.3																			0				endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28						c.(1711-1713)Gag>Aag		KIAA0408							106.0	96.0	99.0					6																	127767753		2203	4300	6503	SO:0001583	missense	9729						protein binding	g.chr6:127767753C>T	AB007868	CCDS34531.1	6q22.33	2012-11-29			ENSG00000189367	ENSG00000189367			21636	protein-coding gene	gene with protein product							Standard	NM_014702		Approved		uc011ebs.2	Q6ZU52	OTTHUMG00000166439	ENST00000483725.3:c.1711G>A	6.37:g.127767753C>T	ENSP00000435150:p.Glu571Lys					SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	p.E571K	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN		GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)	5	2047	-			571					B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Missense_Mutation	SNP	ENST00000483725.3	37	c.1711G>A	CCDS34531.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.608084	0.66558	.	.	ENSG00000189367	ENST00000483725	T	0.26810	1.71	5.23	3.46	0.39613	.	0.275715	0.26217	U	0.025660	T	0.20577	0.0495	M	0.65498	2.005	0.45852	D	0.998719	D	0.55605	0.972	P	0.47075	0.536	T	0.02975	-1.1087	10	0.87932	D	0	-3.2389	11.3149	0.49386	0.0:0.853:0.0:0.147	.	571	Q6ZU52	K0408_HUMAN	K	571	ENSP00000435150:E571K	ENSP00000435150:E571K	E	-	1	0	KIAA0408	127809446	1.000000	0.71417	0.830000	0.32933	0.379000	0.30106	3.953000	0.56699	0.602000	0.29896	0.655000	0.94253	GAG		0.463	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042145.3	NM_014702		31	39	0	0	0	1	0	31	39				
SENP5	205564	broad.mit.edu	37	3	196612250	196612250	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:196612250C>G	ENST00000323460.5	+	2	447	c.198C>G	c.(196-198)atC>atG	p.I66M	SENP5_ENST00000445299.2_Missense_Mutation_p.I66M|SENP5_ENST00000419026.1_Intron	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	66					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		CTCTTCAAATCCAGAAAACGT	0.413																																					Ovarian(47;891 1095 11174 13858 51271)	ENST00000323460.5																			0				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32						c.(196-198)atC>atG		SUMO1/sentrin specific peptidase 5							86.0	84.0	85.0					3																	196612250		2203	4300	6503	SO:0001583	missense	205564				cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity	g.chr3:196612250C>G	BC030705	CCDS3322.1	3q29	2005-08-17	2005-08-17		ENSG00000119231	ENSG00000119231			28407	protein-coding gene	gene with protein product		612845	"""SUMO1/sentrin specific protease 5"""			12477932	Standard	NM_152699		Approved	MGC27076	uc003fwz.4	Q96HI0	OTTHUMG00000155527	ENST00000323460.5:c.198C>G	3.37:g.196612250C>G	ENSP00000327197:p.Ile66Met					SENP5_ENST00000445299.2_Missense_Mutation_p.I66M|SENP5_ENST00000419026.1_Intron	p.I66M	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)	2	447	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		66					B4DY82|Q96SA5	Missense_Mutation	SNP	ENST00000323460.5	37	c.198C>G	CCDS3322.1	.	.	.	.	.	.	.	.	.	.	C	8.039	0.763389	0.15914	.	.	ENSG00000119231	ENST00000323460;ENST00000445299	T;T	0.27256	2.02;1.68	5.18	3.39	0.38822	.	0.437080	0.23409	N	0.048482	T	0.22322	0.0538	N	0.24115	0.695	0.80722	D	1	B;P	0.51933	0.232;0.949	B;P	0.49752	0.206;0.621	T	0.02257	-1.1187	10	0.87932	D	0	-0.1082	7.6795	0.28505	0.0:0.7366:0.0:0.2634	.	66;66	B4DY82;Q96HI0	.;SENP5_HUMAN	M	66	ENSP00000327197:I66M;ENSP00000390231:I66M	ENSP00000327197:I66M	I	+	3	3	SENP5	198096647	0.990000	0.36364	0.939000	0.37840	0.032000	0.12392	0.411000	0.21115	0.841000	0.35020	0.655000	0.94253	ATC		0.413	SENP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340524.1	NM_152699		39	118	0	0	0	1	0	39	118				
HSPE1	3336	broad.mit.edu	37	2	198367797	198367797	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:198367797G>C	ENST00000233893.5	+	3	646	c.203G>C	c.(202-204)gGa>gCa	p.G68A	HSPD1_ENST00000544407.1_5'Flank|HSPE1_ENST00000465573.1_3'UTR|HSPD1_ENST00000345042.2_5'Flank|HSPE1-MOB4_ENST00000604458.1_Intron|HSPE1_ENST00000409468.1_Missense_Mutation_p.G68A|HSPE1_ENST00000409729.1_Missense_Mutation_p.G13A	NM_002157.2	NP_002148.1	P61604	CH10_HUMAN	heat shock 10kDa protein 1	68					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|osteoblast differentiation (GO:0001649)|protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			lung(1)	1			Epithelial(96;0.225)			GTGAAAGTTGGAGATAAAGTT	0.343																																						ENST00000233893.5																			0				lung(1)	1						c.(202-204)gGa>gCa		heat shock 10kDa protein 1							142.0	154.0	150.0					2																	198367797		2203	4300	6503	SO:0001583	missense	3336							g.chr2:198367797G>C	AF109872	CCDS2320.1	2q33.1	2013-10-17	2013-10-17		ENSG00000115541	ENSG00000115541		"""Heat Shock Proteins / Chaperonins"""	5269	protein-coding gene	gene with protein product	"""chaperonin 10"""	600141	"""heat shock 10kD protein 1 (chaperonin 10)"""			7914093, 7698325	Standard	NM_002157		Approved	CPN10, GROES		P61604	OTTHUMG00000132749	ENST00000233893.5:c.203G>C	2.37:g.198367797G>C	ENSP00000233893:p.Gly68Ala					HSPE1_ENST00000465573.1_3'UTR|HSPE1_ENST00000409729.1_Missense_Mutation_p.G13A|MOB4_ENST00000604458.1_Intron|HSPE1_ENST00000409468.1_Missense_Mutation_p.G68A	p.G68A	NM_002157.2	NP_002148.1			Epithelial(96;0.225)		3	646	+								O95421|Q04984|Q53X54|Q9UDH0	Missense_Mutation	SNP	ENST00000233893.5	37	c.203G>C	CCDS2320.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.630727	0.87660	.	.	ENSG00000115541	ENST00000233893;ENST00000409729;ENST00000409468	.	.	.	5.1	5.1	0.69264	GroES-like (1);	0.000000	0.85682	U	0.000000	D	0.89494	0.6731	H	0.96633	3.855	0.80722	D	1	D	0.56035	0.974	D	0.65573	0.936	D	0.92979	0.6404	9	0.87932	D	0	-23.7852	18.8646	0.92287	0.0:0.0:1.0:0.0	.	68	P61604	CH10_HUMAN	A	68;13;68	.	ENSP00000233893:G68A	G	+	2	0	HSPE1	198076042	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.265000	0.95647	2.512000	0.84698	0.561000	0.74099	GGA		0.343	HSPE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256112.1	NM_002157		10	113	0	0	0	1	0	10	113				
DNTT	1791	broad.mit.edu	37	10	98097935	98097935	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr10:98097935C>T	ENST00000371174.2	+	11	1586	c.1484C>T	c.(1483-1485)gCg>gTg	p.A495V	DNTT_ENST00000419175.1_Missense_Mutation_p.A494V			P04053	TDT_HUMAN	DNA nucleotidylexotransferase	495	Mediates interaction with DNTTIP2.				DNA modification (GO:0006304)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA nucleotidylexotransferase activity (GO:0003912)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		GAAATTTTTGCGCATCTGGGA	0.333																																						ENST00000419175.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(1480-1482)gCg>gTg		DNA nucleotidylexotransferase							119.0	118.0	119.0					10																	98097935		2203	4300	6503	SO:0001583	missense	1791				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	g.chr10:98097935C>T	AB046378	CCDS7447.1	10q23-q24	2013-05-21	2013-05-21		ENSG00000107447	ENSG00000107447	2.7.7.31	"""DNA polymerases"""	2983	protein-coding gene	gene with protein product	"""Terminal deoxynucleotidyltransferase"""	187410	"""deoxynucleotidyltransferase, terminal"""				Standard	NM_004088		Approved	TDT	uc001kmf.3	P04053	OTTHUMG00000018832	ENST00000371174.2:c.1484C>T	10.37:g.98097935C>T	ENSP00000360216:p.Ala495Val					DNTT_ENST00000371174.2_Missense_Mutation_p.A495V	p.A494V	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	P04053	TDT_HUMAN		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)	11	1651	+		Colorectal(252;0.0815)|all_hematologic(284;0.224)	495			Mediates interaction with DNTTIP2.		Q53FH1|Q5W103|Q96E50	Missense_Mutation	SNP	ENST00000371174.2	37	c.1481C>T	CCDS7447.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.821842	0.50633	.	.	ENSG00000107447	ENST00000419175;ENST00000371174	T;T	0.47528	0.84;0.84	5.37	5.37	0.77165	DNA-directed DNA polymerase X (1);	0.146062	0.47093	D	0.000248	T	0.43612	0.1255	M	0.85197	2.74	0.38160	D	0.938996	P;P	0.48640	0.913;0.859	B;B	0.28784	0.094;0.043	T	0.57154	-0.7860	10	0.30854	T	0.27	-0.4285	11.9763	0.53094	0.1731:0.8269:0.0:0.0	.	494;495	P04053-2;P04053	.;TDT_HUMAN	V	494;495	ENSP00000401169:A494V;ENSP00000360216:A495V	ENSP00000360216:A495V	A	+	2	0	DNTT	98087925	0.997000	0.39634	1.000000	0.80357	0.946000	0.59487	2.398000	0.44486	2.679000	0.91253	0.655000	0.94253	GCG		0.333	DNTT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049607.1	NM_004088		4	94	0	0	0	1	0	4	94				
SPEG	10290	broad.mit.edu	37	2	220337794	220337794	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:220337794G>A	ENST00000312358.7	+	16	4255	c.4123G>A	c.(4123-4125)Gag>Aag	p.E1375K	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1375	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		ACCCCCTTCTGAGCCTGTGCA	0.672																																						ENST00000312358.7																			0				breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(4123-4125)Gag>Aag		SPEG complex locus							35.0	40.0	38.0					2																	220337794		2059	4210	6269	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220337794G>A	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.4123G>A	2.37:g.220337794G>A	ENSP00000311684:p.Glu1375Lys					SPEG_ENST00000485813.1_3'UTR	p.E1375K	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	16	4255	+		Renal(207;0.0183)	1375			Fibronectin type-III 1.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.4123G>A	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	G	18.87	3.716016	0.68844	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.53857	0.6	5.11	5.11	0.69529	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.40222	N	0.001154	T	0.57548	0.2061	L	0.49699	1.58	0.80722	D	1	D	0.57257	0.979	P	0.49999	0.628	T	0.61691	-0.7011	10	0.59425	D	0.04	.	16.3445	0.83118	0.0:0.0:1.0:0.0	.	1375	Q15772	SPEG_HUMAN	K	1375	ENSP00000311684:E1375K	ENSP00000265327:E1375K	E	+	1	0	SPEG	220046038	1.000000	0.71417	0.766000	0.31476	0.422000	0.31414	7.483000	0.81158	2.375000	0.81037	0.561000	0.74099	GAG		0.672	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		34	33	0	0	0	1	0	34	33				
LOC101927079	101927079	broad.mit.edu	37	15	22332570	22332570	+	RNA	SNP	T	T	C	rs551210093		TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr15:22332570T>C	ENST00000558896.1	+	0	377																											CCCATGCTCATCTGCTCCAAT	0.398																																						ENST00000558896.1																			0																																																			101927079							g.chr15:22332570T>C																													15.37:g.22332570T>C														0	377	+									RNA	SNP	ENST00000558896.1	37																																																																																						0.398	RP11-69H14.6-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000417625.1			4	179	0	0	0	1	0	4	179				
ZFYVE16	9765	broad.mit.edu	37	5	79741145	79741145	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr5:79741145T>C	ENST00000338008.5	+	6	2825	c.2645T>C	c.(2644-2646)gTt>gCt	p.V882A	ZFYVE16_ENST00000505560.1_Missense_Mutation_p.V882A|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.V882A	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	882					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)		AATGGTGAAGTTGCAGATACA	0.358																																					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.(2644-2646)gTt>gCt		zinc finger, FYVE domain containing 16							129.0	122.0	124.0					5																	79741145		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.chr5:79741145T>C	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.2645T>C	5.37:g.79741145T>C	ENSP00000337159:p.Val882Ala					ZFYVE16_ENST00000505560.1_Missense_Mutation_p.V882A|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.V882A	p.V882A	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)	6	2825	+		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)	882					O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	ENST00000338008.5	37	c.2645T>C	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.530903	0.85706	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.46451	0.87;0.87;0.87	6.17	6.17	0.99709	.	0.000000	0.56097	D	0.000036	T	0.53351	0.1791	L	0.55834	1.745	0.40074	D	0.976054	P	0.45283	0.855	P	0.51355	0.667	T	0.56050	-0.8043	10	0.72032	D	0.01	-22.0539	16.4837	0.84171	0.0:0.0:0.0:1.0	.	882	Q7Z3T8	ZFY16_HUMAN	A	882	ENSP00000337159:V882A;ENSP00000423663:V882A;ENSP00000426848:V882A	ENSP00000337159:V882A	V	+	2	0	ZFYVE16	79776901	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.243000	0.51392	2.371000	0.80710	0.533000	0.62120	GTT		0.358	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	NM_014733		36	9	0	0	0	1	0	36	9				
CERK	64781	broad.mit.edu	37	22	47095252	47095252	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr22:47095252C>T	ENST00000216264.8	-	8	1013	c.901G>A	c.(901-903)Gag>Aag	p.E301K	CERK_ENST00000541677.1_Missense_Mutation_p.E103K	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	301					ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lipid phosphorylation (GO:0046834)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)			cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CGTTTCTTCTCACTGTCCTTG	0.562																																						ENST00000216264.8																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20						c.(901-903)Gag>Aag		ceramide kinase							234.0	169.0	191.0					22																	47095252		2203	4300	6503	SO:0001583	missense	64781				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding	g.chr22:47095252C>T	AB079066	CCDS14077.1	22q13.31	2008-06-10			ENSG00000100422	ENSG00000100422			19256	protein-coding gene	gene with protein product		610307				11956206, 11258795	Standard	NM_022766		Approved	hCERK, FLJ23239, dA59H18.3, DKFZp434E0211, FLJ21430, KIAA1646, LK4, dA59H18.2	uc003bia.3	Q8TCT0	OTTHUMG00000150395	ENST00000216264.8:c.901G>A	22.37:g.47095252C>T	ENSP00000216264:p.Glu301Lys					CERK_ENST00000541677.1_Missense_Mutation_p.E103K	p.E301K	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)	8	1013	-		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)	301					A0JNT4|A8K611|Q6NX59|Q9BYB3|Q9UGE5	Missense_Mutation	SNP	ENST00000216264.8	37	c.901G>A	CCDS14077.1	.	.	.	.	.	.	.	.	.	.	c	25.6	4.651031	0.88056	.	.	ENSG00000100422	ENST00000216264;ENST00000541677	T;T	0.54675	0.56;0.56	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.79046	0.4380	M	0.92077	3.27	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	D	0.84864	0.0821	10	0.87932	D	0	-22.093	17.0797	0.86595	0.0:1.0:0.0:0.0	.	301	Q8TCT0	CERK1_HUMAN	K	301;103	ENSP00000216264:E301K;ENSP00000438659:E103K	ENSP00000216264:E301K	E	-	1	0	CERK	45473916	1.000000	0.71417	0.998000	0.56505	0.686000	0.39977	5.373000	0.66162	2.370000	0.80446	0.655000	0.94253	GAG		0.562	CERK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317924.2	NM_022766		133	119	0	0	0	1	0	133	119				
UBA1	7317	broad.mit.edu	37	X	47069517	47069517	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chrX:47069517G>C	ENST00000335972.6	+	18	2377	c.2194G>C	c.(2194-2196)Gac>Cac	p.D732H	UBA1_ENST00000377351.4_Missense_Mutation_p.D732H|UBA1_ENST00000377269.3_Missense_Mutation_p.D180H	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	732					cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTTCCCTCCTGACCAGGTAAT	0.597																																						ENST00000335972.6																			0				breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(2194-2196)Gac>Cac		ubiquitin-like modifier activating enzyme 1							48.0	42.0	44.0					X																	47069517		2203	4300	6503	SO:0001583	missense	7317				cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity	g.chrX:47069517G>C	AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	6.3.2.19	"""Ubiquitin-like modifier activating enzymes"""	12469	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog (yeast)"", ""POC20 centriolar protein homolog (Chlamydomonas)"""	314370	"""ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)"", ""ubiquitin-activating enzyme E1"""	A1S9T, GXP1, UBE1		1845793	Standard	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.2194G>C	X.37:g.47069517G>C	ENSP00000338413:p.Asp732His					UBA1_ENST00000377351.4_Missense_Mutation_p.D732H|UBA1_ENST00000377269.3_Missense_Mutation_p.D180H	p.D732H	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN			18	2377	+			732					Q5JRR8|Q96E13	Missense_Mutation	SNP	ENST00000335972.6	37	c.2194G>C	CCDS14275.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.213979	0.58452	.	.	ENSG00000130985	ENST00000377351;ENST00000335972;ENST00000377269	T;T;T	0.75260	-0.92;-0.92;-0.92	4.6	2.82	0.32997	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);	0.212467	0.47455	D	0.000225	D	0.84933	0.5582	M	0.90977	3.165	0.58432	D	0.999993	D;P	0.63880	0.993;0.901	D;P	0.63192	0.912;0.756	D	0.83535	0.0093	10	0.87932	D	0	-14.0417	6.1393	0.20251	0.3251:0.0:0.6749:0.0	.	180;732	Q5JRR6;P22314	.;UBA1_HUMAN	H	732;732;180	ENSP00000366568:D732H;ENSP00000338413:D732H;ENSP00000366481:D180H	ENSP00000338413:D732H	D	+	1	0	UBA1	46954461	0.999000	0.42202	0.639000	0.29394	0.989000	0.77384	2.958000	0.49145	0.506000	0.28125	0.529000	0.55759	GAC		0.597	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056389.1	NM_003334		30	16	0	0	0	1	0	30	16				
REV1	51455	broad.mit.edu	37	2	100029249	100029249	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:100029249C>T	ENST00000258428.3	-	13	2344	c.2116G>A	c.(2116-2118)Gaa>Aaa	p.E706K	REV1_ENST00000393445.3_Missense_Mutation_p.E705K|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	706					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTTTCCTTTTCAGTTCGAACT	0.388								Direct reversal of damage																														ENST00000258428.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2116-2118)Gaa>Aaa	Direct reversal of damage	REV1, polymerase (DNA directed)							128.0	117.0	121.0					2																	100029249		2203	4300	6503	SO:0001583	missense	51455				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	g.chr2:100029249C>T	AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"""DNA polymerases"""	14060	protein-coding gene	gene with protein product		606134	"""REV1 (yeast homolog)- like"", ""REV1-like (yeast)"", ""REV1 homolog (S. cerevisiae)"""	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.2116G>A	2.37:g.100029249C>T	ENSP00000258428:p.Glu706Lys					REV1_ENST00000393445.3_Missense_Mutation_p.E705K|REV1_ENST00000465835.1_5'UTR	p.E706K	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN			13	2344	-			706					O95941|Q53SI7|Q9C0J4|Q9NUP2	Missense_Mutation	SNP	ENST00000258428.3	37	c.2116G>A	CCDS2045.1	.	.	.	.	.	.	.	.	.	.	C	34	5.412921	0.96072	.	.	ENSG00000135945	ENST00000393445;ENST00000258428	T;T	0.33654	1.4;1.4	5.46	5.46	0.80206	DNA polymerase, Y-family, little finger domain (1);	0.000000	0.85682	D	0.000000	T	0.62024	0.2394	M	0.70903	2.155	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.996;0.999	T	0.62714	-0.6796	10	0.54805	T	0.06	.	19.3712	0.94488	0.0:1.0:0.0:0.0	.	706;705	Q9UBZ9;Q9UBZ9-2	REV1_HUMAN;.	K	705;706	ENSP00000377091:E705K;ENSP00000258428:E706K	ENSP00000258428:E706K	E	-	1	0	REV1	99395681	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.149000	0.77396	2.563000	0.86464	0.650000	0.86243	GAA		0.388	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	NM_016316		35	37	0	0	0	1	0	35	37				
DUSP27	92235	broad.mit.edu	37	1	167097674	167097674	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:167097674G>C	ENST00000361200.2	+	6	3472	c.3306G>C	c.(3304-3306)gaG>gaC	p.E1102D	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.E1102D|DUSP27_ENST00000271385.5_Missense_Mutation_p.E1102D			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1102					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GAGAGAAAGAGAGGACAGAAA	0.488																																						ENST00000361200.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						c.(3304-3306)gaG>gaC		dual specificity phosphatase 27 (putative)							42.0	39.0	40.0					1																	167097674		2203	4300	6503	SO:0001583	missense	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167097674G>C	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.3306G>C	1.37:g.167097674G>C	ENSP00000354483:p.Glu1102Asp					DUSP27_ENST00000443333.1_Missense_Mutation_p.E1102D|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.E1102D	p.E1102D			Q5VZP5	DUS27_HUMAN			6	3472	+			1102					A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	c.3306G>C	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.196396	0.38806	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03772	3.81;3.81;3.81	5.4	3.16	0.36331	.	0.125717	0.35936	N	0.002899	T	0.03305	0.0096	M	0.65975	2.015	0.27636	N	0.947887	P	0.43633	0.813	B	0.40165	0.321	T	0.13791	-1.0496	10	0.72032	D	0.01	-19.9334	13.1655	0.59569	0.1514:0.0:0.8486:0.0	.	1102	Q5VZP5	DUS27_HUMAN	D	1102	ENSP00000354483:E1102D;ENSP00000271385:E1102D;ENSP00000404874:E1102D	ENSP00000271385:E1102D	E	+	3	2	DUSP27	165364298	1.000000	0.71417	0.966000	0.40874	0.956000	0.61745	1.624000	0.37018	1.270000	0.44297	0.549000	0.68633	GAG		0.488	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		12	48	0	0	0	1	0	12	48				
SPATA31A6	389730	broad.mit.edu	37	9	43627757	43627757	+	Silent	SNP	A	A	G	rs200803614	byFrequency	TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:43627757A>G	ENST00000332857.6	-	4	958	c.930T>C	c.(928-930)tgT>tgC	p.C310C	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	310					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CTTCCATCTGACAGGTCTCTG	0.532													A|||	7	0.00139776	0.0	0.0029	5008	,	,		14909	0.0		0.004	False		,,,				2504	0.001					ENST00000332857.6																			0											c.(928-930)tgT>tgC		SPATA31 subfamily A, member 6							1.0	1.0	1.0					9																	43627757		300	906	1206	SO:0001819	synonymous_variant	389730							g.chr9:43627757A>G		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.930T>C	9.37:g.43627757A>G							p.C310C	NM_001145196.1	NP_001138668.1					4	958	-									Silent	SNP	ENST00000332857.6	37	c.930T>C	CCDS47973.1																																																																																				0.532	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		5	176	0	0	0	1	0	5	176				
LRRTM4	80059	broad.mit.edu	37	2	77745701	77745701	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:77745701G>C	ENST00000409093.1	-	3	1630	c.1294C>G	c.(1294-1296)Ctc>Gtc	p.L432V	LRRTM4_ENST00000409884.1_Missense_Mutation_p.L432V|LRRTM4_ENST00000409911.1_Missense_Mutation_p.L433V|LRRTM4_ENST00000409088.3_Missense_Mutation_p.L432V|LRRTM4_ENST00000409282.1_Missense_Mutation_p.L433V			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	432					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GAGAGAAAGAGAGCCACACTC	0.478																																						ENST00000409088.3																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64						c.(1294-1296)Ctc>Gtc		leucine rich repeat transmembrane neuronal 4							74.0	75.0	75.0					2																	77745701		1974	4169	6143	SO:0001583	missense	80059					integral to membrane		g.chr2:77745701G>C	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.1294C>G	2.37:g.77745701G>C	ENSP00000386357:p.Leu432Val					LRRTM4_ENST00000409884.1_Missense_Mutation_p.L432V|LRRTM4_ENST00000409282.1_Missense_Mutation_p.L433V|LRRTM4_ENST00000409093.1_Missense_Mutation_p.L432V|LRRTM4_ENST00000409911.1_Missense_Mutation_p.L433V	p.L432V	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	1708	-			432					Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	c.1294C>G	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	G	17.47	3.398077	0.62177	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.88607	0.6482	M	0.78637	2.42	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.91635	0.997;0.999;0.997	D	0.89151	0.3523	10	0.66056	D	0.02	.	18.3564	0.90358	0.0:0.0:1.0:0.0	.	433;432;432	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	V	433;432;432;432;433	ENSP00000387228:L433V;ENSP00000387297:L432V;ENSP00000386357:L432V;ENSP00000386236:L432V;ENSP00000386286:L433V	ENSP00000386236:L432V	L	-	1	0	LRRTM4	77599209	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.670000	0.90874	0.655000	0.94253	CTC		0.478	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		9	87	0	0	0	1	0	9	87				
TMOD1	7111	broad.mit.edu	37	9	100328171	100328171	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:100328171G>A	ENST00000259365.4	+	7	873	c.660G>A	c.(658-660)ctG>ctA	p.L220L	TMOD1_ENST00000375175.1_Silent_p.L93L|TMOD1_ENST00000395211.2_Silent_p.L220L	NM_003275.3	NP_003266.1	P28289	TMOD1_HUMAN	tropomodulin 1	220					adult locomotory behavior (GO:0008344)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)	cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|membrane (GO:0016020)|myofibril (GO:0030016)				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		CAGAAGCCCTGAAAGAAAACT	0.507																																						ENST00000395211.2																			0				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11						c.(658-660)ctG>ctA		tropomodulin 1							197.0	197.0	197.0					9																	100328171		2203	4300	6503	SO:0001819	synonymous_variant	7111				muscle filament sliding	cytosol	actin binding	g.chr9:100328171G>A		CCDS6726.1	9q22	2008-07-21		2003-03-21	ENSG00000136842	ENSG00000136842			11871	protein-coding gene	gene with protein product		190930		D9S57E, TMOD		1370827, 8661028	Standard	NM_003275		Approved	ETMOD	uc004axl.2	P28289	OTTHUMG00000020325	ENST00000259365.4:c.660G>A	9.37:g.100328171G>A						TMOD1_ENST00000375175.1_Silent_p.L93L|TMOD1_ENST00000259365.3_Silent_p.L220L	p.L220L	NM_001166116.1	NP_001159588.1	P28289	TMOD1_HUMAN		STAD - Stomach adenocarcinoma(157;0.105)	7	796	+		Acute lymphoblastic leukemia(62;0.154)	220					B2RB77|Q5T7W3|Q9BUF1	Silent	SNP	ENST00000259365.4	37	c.660G>A	CCDS6726.1																																																																																				0.507	TMOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053320.2	NM_003275		15	185	0	0	0	1	0	15	185				
CCDC178	374864	broad.mit.edu	37	18	30926252	30926252	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr18:30926252C>T	ENST00000383096.3	-	9	763	c.581G>A	c.(580-582)aGa>aAa	p.R194K	CCDC178_ENST00000402325.1_Missense_Mutation_p.R194K|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000300227.8_Missense_Mutation_p.R194K|CCDC178_ENST00000406524.2_Missense_Mutation_p.R194K|CCDC178_ENST00000583930.1_Missense_Mutation_p.R194K|CCDC178_ENST00000403303.1_Missense_Mutation_p.R194K|CCDC178_ENST00000579947.1_Missense_Mutation_p.R194K			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	194																	CATATTCTTTCTTGATCTCTG	0.383																																						ENST00000383096.3																			0											c.(580-582)aGa>aAa		coiled-coil domain containing 178							116.0	114.0	115.0					18																	30926252		2203	4300	6503	SO:0001583	missense	374864							g.chr18:30926252C>T	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.581G>A	18.37:g.30926252C>T	ENSP00000372576:p.Arg194Lys					CCDC178_ENST00000300227.8_Missense_Mutation_p.R194K|CCDC178_ENST00000579947.1_Missense_Mutation_p.R194K|CCDC178_ENST00000402325.1_Missense_Mutation_p.R194K|CCDC178_ENST00000403303.1_Missense_Mutation_p.R194K|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000583930.1_Missense_Mutation_p.R194K|CCDC178_ENST00000406524.2_Missense_Mutation_p.R194K	p.R194K							9	763	-								A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	ENST00000383096.3	37	c.581G>A	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	C	8.814	0.935978	0.18206	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325;ENST00000399177	T;T;T;T;T;T	0.57436	1.78;1.78;1.83;1.79;1.83;0.4	5.59	5.59	0.84812	.	.	.	.	.	T	0.65004	0.2650	L	0.45137	1.4	0.22728	N	0.998806	D;P;P;P	0.76494	0.999;0.918;0.918;0.918	D;P;P;P	0.80764	0.994;0.852;0.852;0.852	T	0.56792	-0.7920	9	0.22706	T	0.39	-25.4092	16.5129	0.84290	0.0:1.0:0.0:0.0	.	194;194;194;194	F8W7A7;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;CR034_HUMAN	K	194	ENSP00000385591:R194K;ENSP00000372576:R194K;ENSP00000300227:R194K;ENSP00000385867:R194K;ENSP00000385234:R194K;ENSP00000382130:R194K	ENSP00000300227:R194K	R	-	2	0	C18orf34	29180250	1.000000	0.71417	0.530000	0.27963	0.042000	0.13812	3.093000	0.50217	2.636000	0.89361	0.557000	0.71058	AGA		0.383	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995		15	58	0	0	0	1	0	15	58				
CFAP61	26074	broad.mit.edu	37	20	20257901	20257901	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr20:20257901C>T	ENST00000245957.5	+	22	2671	c.2595C>T	c.(2593-2595)ctC>ctT	p.L865L	C20orf26_ENST00000377309.2_Silent_p.L221L	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		865										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		GCATCCACCTCGTGCAGCCCC	0.582																																						ENST00000245957.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77						c.(2593-2595)ctC>ctT		chromosome 20 open reading frame 26							31.0	38.0	36.0					20																	20257901		2202	4298	6500	SO:0001819	synonymous_variant	26074							g.chr20:20257901C>T																												ENST00000245957.5:c.2595C>T	20.37:g.20257901C>T						C20orf26_ENST00000377309.2_Silent_p.L221L	p.L865L	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	22	2671	+			865					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Silent	SNP	ENST00000245957.5	37	c.2595C>T	CCDS33447.1																																																																																				0.582	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			34	44	0	0	0	1	0	34	44				
HIPK1	204851	broad.mit.edu	37	1	114512633	114512633	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:114512633C>G	ENST00000369558.1	+	14	3059	c.2827C>G	c.(2827-2829)Cca>Gca	p.P943A	HIPK1_ENST00000369553.1_Missense_Mutation_p.P549A|HIPK1_ENST00000340480.4_Missense_Mutation_p.P569A|HIPK1_ENST00000406344.1_Missense_Mutation_p.P549A|HIPK1_ENST00000369561.4_Missense_Mutation_p.P909A|HIPK1_ENST00000369559.4_Missense_Mutation_p.P943A|HIPK1_ENST00000426820.2_Missense_Mutation_p.P943A|HIPK1_ENST00000369554.2_Missense_Mutation_p.P898A|HIPK1_ENST00000369555.2_Missense_Mutation_p.P898A			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	943	Interaction with TP53.|Required for localization to nuclear speckles. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAATGATTCTCCAGACTCTGA	0.438																																						ENST00000369558.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39						c.(2827-2829)Cca>Gca		homeodomain interacting protein kinase 1							195.0	204.0	201.0					1																	114512633		2203	4300	6503	SO:0001583	missense	204851				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:114512633C>G	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.2827C>G	1.37:g.114512633C>G	ENSP00000358571:p.Pro943Ala					HIPK1_ENST00000369554.2_Missense_Mutation_p.P898A|HIPK1_ENST00000369555.2_Missense_Mutation_p.P898A|HIPK1_ENST00000340480.4_Missense_Mutation_p.P569A|HIPK1_ENST00000426820.2_Missense_Mutation_p.P943A|HIPK1_ENST00000369559.4_Missense_Mutation_p.P943A|HIPK1_ENST00000406344.1_Missense_Mutation_p.P549A|HIPK1_ENST00000369561.4_Missense_Mutation_p.P909A|HIPK1_ENST00000369553.1_Missense_Mutation_p.P549A	p.P943A			Q86Z02	HIPK1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	14	3059	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	943			Interaction with TP53.|Required for localization to nuclear speckles (By similarity).		A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Missense_Mutation	SNP	ENST00000369558.1	37	c.2827C>G	CCDS867.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.084383|5.084383	0.94100|0.94100	.|.	.|.	ENSG00000163349|ENSG00000163349	ENST00000426820;ENST00000369559;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000369561;ENST00000340480;ENST00000369553;ENST00000406344|ENST00000361587	T;T;T;T;T;T;T;T;T;T|T	0.24538|0.27104	1.85;1.85;1.85;1.85;1.85;1.85;1.85;1.85;1.85;1.85|1.69	6.04|6.04	6.04|6.04	0.98038|0.98038	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.42765|0.42765	0.1217|0.1217	M|M	0.66297|0.66297	2.02|2.02	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.76494|.	0.999;0.992;0.993;0.996|.	D;D;D;D|.	0.77557|.	0.99;0.917;0.971;0.987|.	T|T	0.22103|0.22103	-1.0226|-1.0226	10|7	0.56958|0.87932	D|D	0.05|0	.|.	20.5792|20.5792	0.99380|0.99380	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	235;549;943;943|.	E9PCF6;Q86Z02-4;Q86Z02;Q86Z02-2|.	.;.;HIPK1_HUMAN;.|.	A|C	1014;943;943;898;898;943;909;569;549;549|223	ENSP00000407442:P1014A;ENSP00000358572:P943A;ENSP00000409673:P943A;ENSP00000358567:P898A;ENSP00000358568:P898A;ENSP00000358571:P943A;ENSP00000358574:P909A;ENSP00000340956:P569A;ENSP00000358566:P549A;ENSP00000384960:P549A|ENSP00000355191:S223C	ENSP00000340956:P569A|ENSP00000355191:S223C	P|S	+|+	1|2	0|0	HIPK1|HIPK1	114314156|114314156	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.184000|7.184000	0.77705|0.77705	2.873000|2.873000	0.98535|0.98535	0.561000|0.561000	0.74099|0.74099	CCA|TCC		0.438	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268		58	123	0	0	0	1	0	58	123				
NKX6-1	4825	broad.mit.edu	37	4	85414537	85414537	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:85414537C>G	ENST00000295886.4	-	3	1230	c.1009G>C	c.(1009-1011)Gag>Cag	p.E337Q	NKX6-1_ENST00000515820.2_Missense_Mutation_p.E63Q	NM_006168.2	NP_006159.2	P78426	NKX61_HUMAN	NK6 homeobox 1	337	Involved in DNA-binding. {ECO:0000250}.				cell proliferation (GO:0008283)|cellular response to cytokine stimulus (GO:0071345)|cellular response to peptide hormone stimulus (GO:0071375)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|negative regulation of glial cell differentiation (GO:0045686)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|organ morphogenesis (GO:0009887)|pancreas development (GO:0031016)|positive regulation of glial cell differentiation (GO:0045687)|positive regulation of insulin secretion (GO:0032024)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of axon extension (GO:0030516)|regulation of neuron migration (GO:2001222)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to drug (GO:0042493)|response to nicotine (GO:0035094)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	15		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.0013)		GTGATTTTCTCGTCGTCCGAG	0.617																																						ENST00000295886.4																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	15						c.(1009-1011)Gag>Cag		NK6 homeobox 1							138.0	128.0	131.0					4																	85414537		2203	4300	6503	SO:0001583	missense	4825				detection of glucose|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|type B pancreatic cell maturation	nucleus		g.chr4:85414537C>G	AH007313	CCDS3607.1	4q21.33	2012-03-09	2007-07-09	2002-10-04	ENSG00000163623	ENSG00000163623		"""Homeoboxes / ANTP class : NKL subclass"""	7839	protein-coding gene	gene with protein product		602563	"""NK homeobox (Drosophila), family 6, A"", ""NK6 transcription factor related, locus 1 (Drosophila)"""	NKX6A		9119408	Standard	NM_006168		Approved	Nkx6.1	uc003hpa.1	P78426	OTTHUMG00000130426	ENST00000295886.4:c.1009G>C	4.37:g.85414537C>G	ENSP00000295886:p.Glu337Gln					NKX6-1_ENST00000515820.2_Missense_Mutation_p.E63Q	p.E337Q	NM_006168.2	NP_006159.2	P78426	NKX61_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0013)	3	1230	-		Hepatocellular(203;0.114)	337			Involved in DNA-binding (By similarity).			Missense_Mutation	SNP	ENST00000295886.4	37	c.1009G>C	CCDS3607.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.197135	0.58126	.	.	ENSG00000163623	ENST00000295886	T	0.57107	0.42	4.27	4.27	0.50696	.	0.000000	0.85682	D	0.000000	T	0.71753	0.3377	M	0.76574	2.34	0.58432	D	0.999999	D	0.69078	0.997	D	0.74348	0.983	T	0.76503	-0.2935	10	0.66056	D	0.02	-16.9714	16.5039	0.84264	0.0:1.0:0.0:0.0	.	337	P78426	NKX61_HUMAN	Q	337	ENSP00000295886:E337Q	ENSP00000295886:E337Q	E	-	1	0	NKX6-1	85633561	1.000000	0.71417	1.000000	0.80357	0.265000	0.26407	7.444000	0.80532	2.217000	0.71921	0.467000	0.42956	GAG		0.617	NKX6-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252814.2	NM_006168		58	80	0	0	0	1	0	58	80				
TMEM132C	92293	broad.mit.edu	37	12	128899623	128899623	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:128899623G>A	ENST00000435159.2	+	2	432	c.432G>A	c.(430-432)cgG>cgA	p.R144R		NM_001136103.2	NP_001129575.2	Q8N3T6	T132C_HUMAN	transmembrane protein 132C	144						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						ACCTGAGCCGGCCCAAAGTGC	0.493																																						ENST00000435159.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						c.(430-432)cgG>cgA		transmembrane protein 132C							23.0	22.0	23.0					12																	128899623		692	1591	2283	SO:0001819	synonymous_variant	92293					integral to membrane		g.chr12:128899623G>A	AK126715		12q24.32	2014-06-13				ENSG00000181234			25436	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 152"""						Standard	NM_001136103		Approved	DKFZp761O2018, PPP1R152	uc021rgn.1	Q8N3T6		ENST00000435159.2:c.432G>A	12.37:g.128899623G>A							p.R144R	NM_001136103.2	NP_001129575.2	Q8N3T6	T132C_HUMAN			2	432	+			144					Q69YX8	Silent	SNP	ENST00000435159.2	37	c.432G>A																																																																																					0.493	TMEM132C-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_044062		3	24	0	0	0	1	0	3	24				
OR2L13	284521	broad.mit.edu	37	1	248262837	248262837	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:248262837C>G	ENST00000358120.2	+	2	305	c.160C>G	c.(160-162)Ctc>Gtc	p.L54V	OR2L13_ENST00000366478.2_Missense_Mutation_p.L54V			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	54						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			GGATCCTCGTCTCCACACACC	0.507																																						ENST00000366478.2																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59						c.(160-162)Ctc>Gtc		olfactory receptor, family 2, subfamily L, member 13							240.0	221.0	228.0					1																	248262837		2203	4300	6503	SO:0001583	missense	284521				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	g.chr1:248262837C>G	BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.160C>G	1.37:g.248262837C>G	ENSP00000350836:p.Leu54Val					OR2L13_ENST00000358120.2_Missense_Mutation_p.L54V	p.L54V	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0132)		3	497	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		54					Q5VUR5	Missense_Mutation	SNP	ENST00000358120.2	37	c.160C>G	CCDS1637.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.282322	0.40394	.	.	ENSG00000196071	ENST00000366478;ENST00000358120	T;T	0.14022	2.54;2.54	4.07	3.16	0.36331	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38837	N	0.001554	T	0.48241	0.1489	H	0.97365	3.99	0.28544	N	0.911977	D	0.69078	0.997	D	0.78314	0.991	T	0.55186	-0.8180	10	0.87932	D	0	.	9.0346	0.36280	0.0:0.8938:0.0:0.1062	.	54	Q8N349	OR2LD_HUMAN	V	54	ENSP00000355434:L54V;ENSP00000350836:L54V	ENSP00000350836:L54V	L	+	1	0	OR2L13	246329460	0.970000	0.33590	0.006000	0.13384	0.094000	0.18550	2.509000	0.45459	0.912000	0.36772	0.650000	0.86243	CTC		0.507	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911		8	156	0	0	0	1	0	8	156				
RASGRF1	5923	broad.mit.edu	37	15	79292205	79292205	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr15:79292205C>T	ENST00000419573.3	-	18	2948	c.2674G>A	c.(2674-2676)Gaa>Aaa	p.E892K	RASGRF1_ENST00000558480.2_Missense_Mutation_p.E876K|RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000394745.3_Missense_Mutation_p.E108K	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	892					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TTGTCCAGTTCACGACAGGAG	0.577																																						ENST00000419573.3																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2674-2676)Gaa>Aaa		Ras protein-specific guanine nucleotide-releasing factor 1							129.0	112.0	118.0					15																	79292205		2196	4293	6489	SO:0001583	missense	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79292205C>T	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.2674G>A	15.37:g.79292205C>T	ENSP00000405963:p.Glu892Lys					RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000394745.3_Missense_Mutation_p.E108K|RASGRF1_ENST00000558480.2_Missense_Mutation_p.E876K	p.E892K	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN			18	2948	-			894					F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	c.2674G>A	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.616694	0.46736	.	.	ENSG00000058335	ENST00000419573;ENST00000394741;ENST00000394745	T;T	0.70749	-0.51;-0.51	4.34	4.34	0.51931	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (1);	1.838300	0.03335	N	0.193927	T	0.67487	0.2898	L	0.44542	1.39	0.58432	D	0.999998	B;B;B;B	0.26002	0.139;0.007;0.004;0.007	B;B;B;B	0.21360	0.034;0.004;0.004;0.01	T	0.31724	-0.9933	10	0.25751	T	0.34	.	14.3634	0.66789	0.0:1.0:0.0:0.0	.	288;876;894;876	B7Z6Z6;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	K	892;876;108	ENSP00000405963:E892K;ENSP00000378228:E108K	ENSP00000378224:E876K	E	-	1	0	RASGRF1	77079260	0.993000	0.37304	0.496000	0.27539	0.649000	0.38597	6.873000	0.75541	2.236000	0.73375	0.591000	0.81541	GAA		0.577	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		52	110	0	0	0	1	0	52	110				
NRG3	10718	broad.mit.edu	37	10	84733592	84733592	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr10:84733592G>C	ENST00000404547.1	+	7	1333	c.1333G>C	c.(1333-1335)Gag>Cag	p.E445Q	NRG3_ENST00000372141.2_Missense_Mutation_p.E445Q|NRG3_ENST00000537893.1_Missense_Mutation_p.E95Q|NRG3_ENST00000404576.2_Missense_Mutation_p.E249Q|NRG3_ENST00000545131.1_Missense_Mutation_p.E95Q|NRG3_ENST00000372142.2_Missense_Mutation_p.E224Q|NRG3_ENST00000556918.1_Missense_Mutation_p.E275Q			P56975	NRG3_HUMAN	neuregulin 3	445					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GAAAATGATGGAGTCAAGTTT	0.488																																						ENST00000372142.2																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(670-672)Gag>Cag		neuregulin 3							137.0	117.0	124.0					10																	84733592		2203	4300	6503	SO:0001583	missense	10718				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr10:84733592G>C	AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.1333G>C	10.37:g.84733592G>C	ENSP00000384796:p.Glu445Gln					NRG3_ENST00000537893.1_Missense_Mutation_p.E95Q|NRG3_ENST00000545131.1_Missense_Mutation_p.E95Q|NRG3_ENST00000404547.1_Missense_Mutation_p.E445Q|NRG3_ENST00000556918.1_Missense_Mutation_p.E275Q|NRG3_ENST00000404576.2_Missense_Mutation_p.E249Q|NRG3_ENST00000372141.2_Missense_Mutation_p.E445Q	p.E224Q	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN		GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)	8	944	+			445			Ser/Thr-rich.		A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	ENST00000404547.1	37	c.670G>C	CCDS31233.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.633724	0.87660	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287;ENST00000372142;ENST00000404576;ENST00000556918;ENST00000545131;ENST00000537893	T;T;T;T;T;T;T	0.62105	0.77;0.96;0.05;0.05;0.05;0.05;0.05	6.06	6.06	0.98353	.	0.205362	0.33346	N	0.005007	T	0.76256	0.3962	L	0.58101	1.795	0.47276	D	0.999372	D;D;D;D	0.76494	0.998;0.996;0.999;0.998	D;D;D;D	0.65684	0.937;0.922;0.935;0.937	T	0.76735	-0.2850	10	0.87932	D	0	-17.4593	18.1336	0.89610	0.0:0.0:1.0:0.0	.	444;445;224;445	B9EGV5;P56975;P56975-3;P56975-4	.;NRG3_HUMAN;.;.	Q	445;445;444;224;249;275;95;95	ENSP00000361214:E445Q;ENSP00000384796:E445Q;ENSP00000361215:E224Q;ENSP00000385804:E249Q;ENSP00000451376:E275Q;ENSP00000441201:E95Q;ENSP00000440377:E95Q	ENSP00000361214:E445Q	E	+	1	0	NRG3	84723572	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.363000	0.73082	2.880000	0.98712	0.650000	0.86243	GAG		0.488	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086		26	31	0	0	0	1	0	26	31				
TIAM2	26230	broad.mit.edu	37	6	155561820	155561820	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:155561820G>A	ENST00000461783.3	+	18	4598	c.3325G>A	c.(3325-3327)Gac>Aac	p.D1109N	TIAM2_ENST00000528391.2_Missense_Mutation_p.D445N|TIAM2_ENST00000456144.1_Missense_Mutation_p.D1109N|TIAM2_ENST00000360366.4_Missense_Mutation_p.D1133N|TIAM2_ENST00000275246.7_Missense_Mutation_p.D34N|TIAM2_ENST00000318981.5_Missense_Mutation_p.D1109N|TIAM2_ENST00000367174.2_Missense_Mutation_p.D485N|TIAM2_ENST00000529824.2_Missense_Mutation_p.D1109N|TIAM2_ENST00000456877.2_Missense_Mutation_p.D421N			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1109	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GGAGCTTGTGGACACAGAGAA	0.562																																						ENST00000461783.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(3325-3327)Gac>Aac		T-cell lymphoma invasion and metastasis 2							51.0	50.0	50.0					6																	155561820		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155561820G>A		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.3325G>A	6.37:g.155561820G>A	ENSP00000437188:p.Asp1109Asn					TIAM2_ENST00000367174.2_Missense_Mutation_p.D485N|TIAM2_ENST00000318981.5_Missense_Mutation_p.D1109N|TIAM2_ENST00000360366.4_Missense_Mutation_p.D1133N|TIAM2_ENST00000456144.1_Missense_Mutation_p.D1109N|TIAM2_ENST00000528391.2_Missense_Mutation_p.D445N|TIAM2_ENST00000456877.2_Missense_Mutation_p.D421N|TIAM2_ENST00000275246.7_Missense_Mutation_p.D34N|TIAM2_ENST00000529824.2_Missense_Mutation_p.D1109N	p.D1109N			Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	18	4598	+		Ovarian(120;0.196)	1109			DH.		B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.3325G>A	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	G	35	5.471250	0.96274	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391;ENST00000275246;ENST00000462408	T;T;T;T;T;T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05	5.09	5.09	0.68999	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.65512	0.2698	L	0.39692	1.235	0.58432	D	0.999994	P;D;D;D	0.89917	0.933;1.0;1.0;0.989	P;D;D;D	0.91635	0.842;0.999;0.999;0.969	T	0.64698	-0.6346	10	0.38643	T	0.18	.	16.6758	0.85278	0.0:0.0:1.0:0.0	.	445;1109;1133;1109	E9PKT1;Q8IVF5-2;Q8IVF5-5;Q8IVF5	.;.;.;TIAM2_HUMAN	N	1109;1355;1109;1109;1109;485;1133;1109;421;445;34;47	ENSP00000437188:D1109N;ENSP00000434901:D1109N;ENSP00000407746:D1109N;ENSP00000327315:D1109N;ENSP00000356142:D485N;ENSP00000353528:D1133N;ENSP00000433348:D1109N;ENSP00000407183:D421N;ENSP00000435335:D445N;ENSP00000275246:D34N;ENSP00000431269:D47N	ENSP00000275246:D34N	D	+	1	0	TIAM2	155603512	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	9.251000	0.95483	2.362000	0.80069	0.491000	0.48974	GAC		0.562	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		43	44	0	0	0	1	0	43	44				
LRRC4C	57689	broad.mit.edu	37	11	40137439	40137439	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:40137439C>A	ENST00000278198.2	-	2	2367	c.404G>T	c.(403-405)cGt>cTt	p.R135L	LRRC4C_ENST00000530763.1_Missense_Mutation_p.R135L|LRRC4C_ENST00000528697.1_Missense_Mutation_p.R135L|LRRC4C_ENST00000527150.1_Missense_Mutation_p.R135L			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	135					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GGTAGTAAGACGATTGTCAAA	0.428																																						ENST00000278198.2																			0				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86						c.(403-405)cGt>cTt		leucine rich repeat containing 4C							69.0	71.0	70.0					11																	40137439		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40137439C>A	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.404G>T	11.37:g.40137439C>A	ENSP00000278198:p.Arg135Leu					LRRC4C_ENST00000530763.1_Missense_Mutation_p.R135L|LRRC4C_ENST00000528697.1_Missense_Mutation_p.R135L|LRRC4C_ENST00000527150.1_Missense_Mutation_p.R135L	p.R135L			Q9HCJ2	LRC4C_HUMAN			2	2367	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	135					A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.404G>T	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735496	0.69189	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	D;D;D;D	0.91464	-2.85;-2.85;-2.85;-2.85	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.93400	0.7895	L	0.45352	1.415	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.92293	0.5843	10	0.38643	T	0.18	.	18.8821	0.92360	0.0:1.0:0.0:0.0	.	135	Q9HCJ2	LRC4C_HUMAN	L	135	ENSP00000278198:R135L;ENSP00000436976:R135L;ENSP00000437132:R135L;ENSP00000434761:R135L	ENSP00000278198:R135L	R	-	2	0	LRRC4C	40094015	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	2.706000	0.92434	0.585000	0.79938	CGT		0.428	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		23	41	1	0	1.10513e-12	1	1.13694e-12	23	41				
RGPD3	653489	broad.mit.edu	37	2	107041152	107041152	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:107041152C>T	ENST00000409886.3	-	20	3358	c.3271G>A	c.(3271-3273)Gag>Aag	p.E1091K	RGPD3_ENST00000304514.7_Missense_Mutation_p.E1091K	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1091	RanBD1 1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CCATTGACCTCGTTTTTGAGA	0.393																																						ENST00000409886.3																			0				breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(3271-3273)Gag>Aag		RANBP2-like and GRIP domain containing 3							21.0	16.0	17.0					2																	107041152		692	1591	2283	SO:0001583	missense	653489				intracellular transport		binding	g.chr2:107041152C>T		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.3271G>A	2.37:g.107041152C>T	ENSP00000386588:p.Glu1091Lys					RGPD3_ENST00000304514.7_Missense_Mutation_p.E1091K	p.E1091K	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			20	3358	-			1091			RanBD1 1.		B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	c.3271G>A	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	0.058	-1.230534	0.01518	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.37235	1.21;1.21	2.35	2.35	0.29111	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.15825	0.0381	N	0.00408	-1.53	0.23227	N	0.998084	D	0.57571	0.98	P	0.56216	0.794	T	0.09952	-1.0651	9	0.06236	T	0.91	-35.1005	10.4115	0.44296	0.0:1.0:0.0:0.0	.	1091	A6NKT7	RGPD3_HUMAN	K	1091;849;1091	ENSP00000386588:E1091K;ENSP00000303659:E1091K	ENSP00000303659:E1091K	E	-	1	0	RGPD3	106407584	1.000000	0.71417	0.998000	0.56505	0.243000	0.25628	2.190000	0.42630	1.314000	0.45095	0.186000	0.17326	GAG		0.393	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		31	430	0	0	0	1	0	31	430				
DNAJB4	11080	broad.mit.edu	37	1	78479023	78479023	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:78479023C>T	ENST00000370763.5	+	2	757	c.500C>T	c.(499-501)tCa>tTa	p.S167L	DNAJB4_ENST00000487931.1_3'UTR|GIPC2_ENST00000476882.1_Intron	NM_007034.3	NP_008965.2	Q9UDY4	DNJB4_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 4	167					protein folding (GO:0006457)|response to heat (GO:0009408)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chaperone binding (GO:0051087)|unfolded protein binding (GO:0051082)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						CTTAGAGTATCACTTGAAGAG	0.418																																						ENST00000370763.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(499-501)tCa>tTa		DnaJ (Hsp40) homolog, subfamily B, member 4							107.0	109.0	108.0					1																	78479023		2203	4300	6503	SO:0001583	missense	11080				protein folding|response to heat|response to unfolded protein	cytoplasm|plasma membrane	heat shock protein binding|unfolded protein binding	g.chr1:78479023C>T	U40992	CCDS684.1	1p31.1	2011-09-02			ENSG00000162616	ENSG00000162616		"""Heat shock proteins / DNAJ (HSP40)"""	14886	protein-coding gene	gene with protein product		611327				9546042, 11147971	Standard	NM_007034		Approved	HLJ1	uc001dij.3	Q9UDY4	OTTHUMG00000040905	ENST00000370763.5:c.500C>T	1.37:g.78479023C>T	ENSP00000359799:p.Ser167Leu					GIPC2_ENST00000476882.1_Intron|DNAJB4_ENST00000487931.1_3'UTR	p.S167L	NM_007034.3	NP_008965.2	Q9UDY4	DNJB4_HUMAN			2	757	+			167					B2R824|Q13431	Missense_Mutation	SNP	ENST00000370763.5	37	c.500C>T	CCDS684.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.310901	0.81358	.	.	ENSG00000162616	ENST00000426517;ENST00000370763	T;T	0.69435	-0.4;0.67	5.58	5.58	0.84498	HSP40/DnaJ peptide-binding (1);	0.060703	0.64402	D	0.000002	D	0.84800	0.5552	M	0.93594	3.435	0.80722	D	1	D	0.71674	0.998	D	0.65773	0.938	D	0.88376	0.2998	10	0.87932	D	0	.	19.6468	0.95779	0.0:1.0:0.0:0.0	.	167	Q9UDY4	DNJB4_HUMAN	L	167	ENSP00000399494:S167L;ENSP00000359799:S167L	ENSP00000359799:S167L	S	+	2	0	DNAJB4	78251611	1.000000	0.71417	0.980000	0.43619	0.734000	0.41952	6.003000	0.70701	2.610000	0.88304	0.650000	0.86243	TCA		0.418	DNAJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098248.3			43	75	0	0	0	1	0	43	75				
HGS	9146	broad.mit.edu	37	17	79662834	79662834	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr17:79662834G>A	ENST00000329138.4	+	15	1333	c.1198G>A	c.(1198-1200)Gag>Aag	p.E400K		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	400	Interaction with SNX1. {ECO:0000250}.		E -> D (in dbSNP:rs34868130).		endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane invagination (GO:0010324)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of gene expression (GO:0010628)|protein localization to membrane (GO:0072657)|protein targeting to lysosome (GO:0006622)|regulation of protein catabolic process (GO:0042176)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|secretory granule (GO:0030141)	metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			CCACAATGGCGAGTCTGAGGA	0.642																																						ENST00000329138.4																			0				endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(1198-1200)Gag>Aag		hepatocyte growth factor-regulated tyrosine kinase substrate							70.0	57.0	62.0					17																	79662834		2203	4300	6503	SO:0001583	missense	9146				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding	g.chr17:79662834G>A	D84064	CCDS11784.1	17q25	2009-04-29				ENSG00000185359		"""Zinc fingers, FYVE domain containing"""	4897	protein-coding gene	gene with protein product		604375				9407053, 9630564	Standard	NM_004712		Approved	Hrs, ZFYVE8, Vps27	uc002kbg.3	O14964		ENST00000329138.4:c.1198G>A	17.37:g.79662834G>A	ENSP00000331201:p.Glu400Lys						p.E400K	NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		15	1333	+	all_neural(118;0.0878)|all_lung(278;0.23)		400		E -> D (in dbSNP:rs34868130).	Interaction with SNX1 (By similarity).		Q9NR36	Missense_Mutation	SNP	ENST00000329138.4	37	c.1198G>A	CCDS11784.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.479493	0.63849	.	.	ENSG00000185359	ENST00000329138;ENST00000442335	T	0.41400	1.0	5.16	5.16	0.70880	.	0.603441	0.17692	N	0.165223	T	0.46889	0.1416	M	0.68317	2.08	0.80722	D	1	B	0.16603	0.018	B	0.20577	0.03	T	0.44329	-0.9335	10	0.54805	T	0.06	-14.9253	17.602	0.88028	0.0:0.0:1.0:0.0	.	400	O14964	HGS_HUMAN	K	400	ENSP00000331201:E400K	ENSP00000331201:E400K	E	+	1	0	HGS	77273239	1.000000	0.71417	0.994000	0.49952	0.376000	0.30014	9.146000	0.94640	2.403000	0.81681	0.467000	0.42956	GAG		0.642	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440541.1	NM_004712		6	110	0	0	0	1	0	6	110				
TTN	7273	broad.mit.edu	37	2	179615276	179615276	+	Intron	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:179615276C>T	ENST00000591111.1	-	45	10585				TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.E3951K			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTGAGATTCAATTTCTTGA	0.353																																						ENST00000360870.5																			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.(11851-11853)Gaa>Aaa		titin							35.0	35.0	35.0					2																	179615276		2203	4295	6498	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179615276C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+2574G>A	2.37:g.179615276C>T						TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	p.E3951K	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	12073	-			9768					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.11851G>A		.	.	.	.	.	.	.	.	.	.	C	5.776	0.327461	0.10956	.	.	ENSG00000155657	ENST00000360870	T	0.64260	-0.09	5.55	4.66	0.58398	.	.	.	.	.	T	0.49864	0.1582	L	0.42529	1.33	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.40421	-0.9564	9	0.13470	T	0.59	.	10.6054	0.45392	0.0:0.7878:0.1352:0.077	.	3951	Q8WZ42-6	.	K	3951	ENSP00000354117:E3951K	ENSP00000354117:E3951K	E	-	1	0	TTN	179323521	0.950000	0.32346	0.998000	0.56505	0.496000	0.33645	1.746000	0.38288	1.458000	0.47871	-0.176000	0.13171	GAA		0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		10	11	0	0	0	1	0	10	11				
SRRM2	23524	broad.mit.edu	37	16	2814238	2814238	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:2814238G>A	ENST00000301740.8	+	11	4258	c.3709G>A	c.(3709-3711)Gag>Aag	p.E1237K		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1237	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CCAAGATGAAGAGTTAATGGA	0.443																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(3709-3711)Gag>Aag		serine/arginine repetitive matrix 2							112.0	119.0	116.0					16																	2814238		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2814238G>A	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.3709G>A	16.37:g.2814238G>A	ENSP00000301740:p.Glu1237Lys						p.E1237K	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			11	4258	+			1237			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.3709G>A	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	9.874	1.199869	0.22121	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.23754	1.89	6.17	5.22	0.72569	.	0.257904	0.27618	N	0.018570	T	0.15046	0.0363	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.13764	-1.0497	10	0.48119	T	0.1	-2.2594	8.8102	0.34963	0.0782:0.1505:0.7712:0.0	.	1237	Q9UQ35	SRRM2_HUMAN	K	1237;1237;489	ENSP00000301740:E1237K	ENSP00000301740:E1237K	E	+	1	0	SRRM2	2754239	0.172000	0.23043	0.835000	0.33067	0.948000	0.59901	2.129000	0.42055	1.631000	0.50456	0.655000	0.94253	GAG		0.443	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			21	258	0	0	0	1	0	21	258				
VARS2	57176	broad.mit.edu	37	6	30891224	30891224	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:30891224C>T	ENST00000321897.5	+	24	3040	c.2408C>T	c.(2407-2409)tCg>tTg	p.S803L	VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000542001.1_Missense_Mutation_p.S663L|VARS2_ENST00000416670.2_Missense_Mutation_p.S803L|VARS2_ENST00000541562.1_Missense_Mutation_p.S833L			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	803					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						CGAGAGCTCTCGCTCGTCACT	0.627																																						ENST00000321897.5																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						c.(2407-2409)tCg>tTg		valyl-tRNA synthetase 2, mitochondrial							75.0	68.0	70.0					6																	30891224		1510	2707	4217	SO:0001583	missense	57176				valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity	g.chr6:30891224C>T	AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	21642	protein-coding gene	gene with protein product	"""valine tRNA ligase 2, mitochondrial"""	612802	"""valyl-tRNA synthetase 2-like"", ""valyl-tRNA synthetase like"", ""valyl-tRNA synthetase 2, mitochondrial (putative)"""	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.2408C>T	6.37:g.30891224C>T	ENSP00000316092:p.Ser803Leu					VARS2_ENST00000541562.1_Missense_Mutation_p.S833L|VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000416670.2_Missense_Mutation_p.S803L|VARS2_ENST00000542001.1_Missense_Mutation_p.S663L	p.S803L			Q5ST30	SYVM_HUMAN			24	3040	+			803					A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Missense_Mutation	SNP	ENST00000321897.5	37	c.2408C>T	CCDS34387.1	.	.	.	.	.	.	.	.	.	.	c	6.125	0.391228	0.11581	.	.	ENSG00000137411	ENST00000321897;ENST00000416670;ENST00000542001;ENST00000541562	T;T;T;T	0.15139	2.45;2.45;2.45;2.45	5.37	5.37	0.77165	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class I, anticodon-binding (1);Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.327254	0.32343	N	0.006240	T	0.06872	0.0175	L	0.56769	1.78	0.20563	N	0.99989	P;P;P;B	0.46142	0.873;0.535;0.701;0.139	B;B;B;B	0.40228	0.241;0.323;0.216;0.042	T	0.30592	-0.9973	10	0.09084	T	0.74	-0.2048	11.9778	0.53103	0.1732:0.8268:0.0:0.0	.	241;801;833;803	Q5ST30-2;B7ZL25;F5GXJ0;Q5ST30	.;.;.;SYVM_HUMAN	L	803;803;663;833	ENSP00000316092:S803L;ENSP00000394802:S803L;ENSP00000438200:S663L;ENSP00000441000:S833L	ENSP00000316092:S803L	S	+	2	0	VARS2	30999203	0.065000	0.20965	0.013000	0.15412	0.013000	0.08279	3.237000	0.51344	2.683000	0.91414	0.558000	0.71614	TCG		0.627	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	NM_020442		39	39	0	0	0	1	0	39	39				
ROR2	4920	broad.mit.edu	37	9	94486339	94486339	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:94486339G>T	ENST00000375708.3	-	9	2635	c.2437C>A	c.(2437-2439)Ccc>Acc	p.P813T	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	813	Pro-rich.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TGCGGCGGGGGCACCATGGGT	0.652																																						ENST00000375708.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(2437-2439)Ccc>Acc		receptor tyrosine kinase-like orphan receptor 2							39.0	48.0	45.0					9																	94486339		2203	4300	6503	SO:0001583	missense	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94486339G>T	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.2437C>A	9.37:g.94486339G>T	ENSP00000364860:p.Pro813Thr					ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR	p.P813T	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN			9	2635	-			813			Pro-rich.		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	ENST00000375708.3	37	c.2437C>A	CCDS6691.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.854086	0.51270	.	.	ENSG00000169071	ENST00000375708	T	0.78364	-1.17	4.52	4.52	0.55395	.	0.000000	0.41938	D	0.000792	T	0.68842	0.3045	L	0.34521	1.04	0.48830	D	0.999716	P	0.38922	0.651	B	0.35931	0.214	T	0.71457	-0.4587	10	0.40728	T	0.16	.	17.4667	0.87634	0.0:0.0:1.0:0.0	.	813	Q01974	ROR2_HUMAN	T	813	ENSP00000364860:P813T	ENSP00000364860:P813T	P	-	1	0	ROR2	93526160	1.000000	0.71417	1.000000	0.80357	0.596000	0.36781	5.390000	0.66261	2.345000	0.79718	0.462000	0.41574	CCC		0.652	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			34	91	1	0	6.29468e-14	1	6.51096e-14	34	91				
IGHV3-38	28429	broad.mit.edu	37	14	106866600	106866600	+	RNA	SNP	C	C	G	rs572862683	byFrequency	TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr14:106866600C>G	ENST00000390618.2	-	0	231									immunoglobulin heavy variable 3-38 (non-functional)																		CAGCTCATCTCATTGCTACTG	0.587																																						ENST00000390618.2																			0																				186.0	137.0	153.0					14																	106866600		2148	4238	6386			28429							g.chr14:106866600C>G	M99669		14q32.33	2012-02-08	2008-08-22		ENSG00000211958	ENSG00000211958		"""Immunoglobulins / IGH locus"""	5601	other	immunoglobulin gene			"""immunoglobulin heavy variable 3-38"""				Standard	NG_001019		Approved				OTTHUMG00000152093		14.37:g.106866600C>G														0	231	-									RNA	SNP	ENST00000390618.2	37																																																																																						0.587	IGHV3-38-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325190.1	NG_001019		125	187	0	0	0	1	0	125	187				
USP33	23032	broad.mit.edu	37	1	78163136	78163136	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:78163136C>G	ENST00000370793.1	-	25	3041	c.2695G>C	c.(2695-2697)Gaa>Caa	p.E899Q	USP33_ENST00000370794.3_Missense_Mutation_p.E868Q|USP33_ENST00000357428.1_Missense_Mutation_p.E899Q	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	899	DUSP 2. {ECO:0000255|PROSITE- ProRule:PRU00613}.				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						CATGTTTCTTCAGAAATCTGG	0.388																																					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.(2695-2697)Gaa>Caa		ubiquitin specific peptidase 33							78.0	85.0	83.0					1																	78163136		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.chr1:78163136C>G	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.2695G>C	1.37:g.78163136C>G	ENSP00000359829:p.Glu899Gln					USP33_ENST00000357428.1_Missense_Mutation_p.E899Q|USP33_ENST00000370794.3_Missense_Mutation_p.E868Q	p.E899Q	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN			25	3041	-			899			DUSP 2.		Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Missense_Mutation	SNP	ENST00000370793.1	37	c.2695G>C	CCDS678.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.881341	0.91740	.	.	ENSG00000077254	ENST00000370794;ENST00000370793;ENST00000357428	T;T;T	0.12147	2.72;2.71;2.71	5.0	5.0	0.66597	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (3);	0.000000	0.85682	D	0.000000	T	0.18002	0.0432	L	0.39566	1.225	0.80722	D	1	P	0.51240	0.943	P	0.60415	0.874	T	0.01172	-1.1429	10	0.35671	T	0.21	.	18.6967	0.91603	0.0:1.0:0.0:0.0	.	899	Q8TEY7	UBP33_HUMAN	Q	868;899;899	ENSP00000359830:E868Q;ENSP00000359829:E899Q;ENSP00000350009:E899Q	ENSP00000350009:E899Q	E	-	1	0	USP33	77935724	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.366000	0.79548	2.486000	0.83907	0.650000	0.86243	GAA		0.388	USP33-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026923.2	NM_015017		10	112	0	0	0	1	0	10	112				
FANCM	57697	broad.mit.edu	37	14	45633749	45633749	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr14:45633749C>T	ENST00000267430.5	+	10	1854	c.1769C>T	c.(1768-1770)tCt>tTt	p.S590F	FANCM_ENST00000556036.1_Missense_Mutation_p.S590F|FANCM_ENST00000542564.2_Missense_Mutation_p.S564F	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	590	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						ATTATCCTTTCTGAAGGACGA	0.398								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000267430.5																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						c.(1768-1770)tCt>tTt	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M							55.0	49.0	51.0					14																	45633749		2203	4300	6503	SO:0001583	missense	57697	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45633749C>T	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.1769C>T	14.37:g.45633749C>T	ENSP00000267430:p.Ser590Phe					FANCM_ENST00000556036.1_Missense_Mutation_p.S590F|FANCM_ENST00000542564.2_Missense_Mutation_p.S564F	p.S590F	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN			10	1854	+			590			Helicase C-terminal.		B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	c.1769C>T	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.077098	0.55753	.	.	ENSG00000187790	ENST00000556036;ENST00000267430;ENST00000542564	T;T;T	0.05139	3.49;3.49;3.49	5.94	5.94	0.96194	Helicase, C-terminal (1);	0.638165	0.16614	N	0.206795	T	0.16257	0.0391	M	0.70787	2.145	0.32296	N	0.565597	P;P;P	0.41393	0.459;0.748;0.659	B;B;P	0.46585	0.212;0.308;0.521	T	0.01367	-1.1373	10	0.72032	D	0.01	.	15.4432	0.75204	0.0:0.8616:0.1384:0.0	.	564;590;590	B2RTQ9;Q8IYD8;Q8IYD8-2	.;FANCM_HUMAN;.	F	590;590;564	ENSP00000450596:S590F;ENSP00000267430:S590F;ENSP00000442493:S564F	ENSP00000267430:S590F	S	+	2	0	FANCM	44703499	0.643000	0.27269	0.995000	0.50966	0.981000	0.71138	5.685000	0.68204	2.816000	0.96949	0.561000	0.74099	TCT		0.398	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		11	20	0	0	0	1	0	11	20				
PHKG1	5260	broad.mit.edu	37	7	56148918	56148918	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr7:56148918C>G	ENST00000297373.2	-	10	1187	c.993G>C	c.(991-993)gaG>gaC	p.E331D	PHKG1_ENST00000537360.1_Missense_Mutation_p.E277D|PHKG1_ENST00000452681.2_Missense_Mutation_p.E363D|PHKG1_ENST00000489604.1_5'Flank	NM_001258460.1|NM_006213.4	NP_001245389.1|NP_006204.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)	331					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|tau-protein kinase activity (GO:0050321)			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GGATGACGATCTCCCGGGTCA	0.642																																					Melanoma(184;580 2064 5329 24177 35303)	ENST00000452681.2																			0				endometrium(1)|large_intestine(1)|lung(5)	7						c.(1087-1089)gaG>gaC		phosphorylase kinase, gamma 1 (muscle)							51.0	46.0	47.0					7																	56148918		2203	4300	6503	SO:0001583	missense	5260				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity	g.chr7:56148918C>G	X80590	CCDS5525.1, CCDS59057.1	7p11.2	2009-07-10			ENSG00000164776	ENSG00000164776	2.7.11.19		8930	protein-coding gene	gene with protein product		172470		PHKG		8530014	Standard	NM_001258459		Approved		uc011kdb.2	Q16816	OTTHUMG00000023869	ENST00000297373.2:c.993G>C	7.37:g.56148918C>G	ENSP00000297373:p.Glu331Asp					PHKG1_ENST00000297373.2_Missense_Mutation_p.E331D|PHKG1_ENST00000537360.1_Missense_Mutation_p.E277D	p.E363D	NM_001258459.1	NP_001245388.1	Q16816	PHKG1_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		11	1238	-	Breast(14;0.214)		331			Calmodulin-binding (domain-C).		B7Z1D0|F5H2S1|Q75LP5	Missense_Mutation	SNP	ENST00000297373.2	37	c.1089G>C	CCDS5525.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.265341	0.40095	.	.	ENSG00000164776	ENST00000452681;ENST00000537360;ENST00000297373	T;T;T	0.31769	1.48;1.48;1.48	5.02	3.06	0.35304	Protein kinase-like domain (1);	0.087995	0.48286	D	0.000188	T	0.21387	0.0515	L	0.41236	1.265	0.58432	D	0.999992	B;B;B;B	0.10296	0.002;0.001;0.003;0.001	B;B;B;B	0.12156	0.003;0.003;0.007;0.002	T	0.04781	-1.0927	10	0.12430	T	0.62	-43.8393	9.767	0.40567	0.0:0.7819:0.1399:0.0782	.	277;322;363;331	B7Z5U3;B7Z6U2;F5H2S1;Q16816	.;.;.;PHKG1_HUMAN	D	363;277;331	ENSP00000445440:E363D;ENSP00000441528:E277D;ENSP00000297373:E331D	ENSP00000297373:E331D	E	-	3	2	PHKG1	56116412	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.162000	0.42367	1.239000	0.43787	0.563000	0.77884	GAG		0.642	PHKG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251587.1	NM_006213		24	54	0	0	0	1	0	24	54				
PPP1CC	5501	broad.mit.edu	37	12	111168434	111168434	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:111168434G>A	ENST00000335007.5	-	3	508	c.318C>T	c.(316-318)ctC>ctT	p.L106L	PPP1CC_ENST00000550991.1_Silent_p.L106L|PPP1CC_ENST00000546933.1_Silent_p.L115L|PPP1CC_ENST00000551676.1_Silent_p.L106L|PPP1CC_ENST00000340766.5_Silent_p.L106L|PPP1CC_ENST00000551690.1_5'Flank	NM_002710.3	NP_002701.1	P36873	PP1G_HUMAN	protein phosphatase 1, catalytic subunit, gamma isozyme	106					cell division (GO:0051301)|circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|glycogen metabolic process (GO:0005977)|mitotic cell cycle (GO:0000278)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron differentiation (GO:0030182)|protein dephosphorylation (GO:0006470)|regulation of circadian rhythm (GO:0042752)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)|triglyceride catabolic process (GO:0019433)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)|PTW/PP1 phosphatase complex (GO:0072357)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|large_intestine(2)|lung(3)	6						AGGCCAGTAAGAGGCAGATCG	0.418																																						ENST00000335007.5																			0				central_nervous_system(1)|large_intestine(2)|lung(3)	6						c.(316-318)ctC>ctT		protein phosphatase 1, catalytic subunit, gamma isozyme							80.0	80.0	80.0					12																	111168434		2203	4300	6503	SO:0001819	synonymous_variant	5501				cell division|glycogen metabolic process|mitotic prometaphase|triglyceride catabolic process	cleavage furrow|condensed chromosome kinetochore|cytosol|midbody|MLL5-L complex|nuclear speck|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|protein binding|protein kinase binding|protein serine/threonine phosphatase activity	g.chr12:111168434G>A		CCDS9150.1, CCDS58279.1	12q24.1-q24.2	2013-01-17	2010-03-05		ENSG00000186298	ENSG00000186298	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9283	protein-coding gene	gene with protein product		176914	"""protein phosphatase 1, catalytic subunit, gamma isoform"""				Standard	NM_002710		Approved	PP1C, PP1gamma	uc021rdx.1	P36873	OTTHUMG00000169531	ENST00000335007.5:c.318C>T	12.37:g.111168434G>A						PPP1CC_ENST00000340766.5_Silent_p.L106L|PPP1CC_ENST00000551676.1_Silent_p.L106L|PPP1CC_ENST00000550991.1_Silent_p.L106L|PPP1CC_ENST00000546933.1_Silent_p.L115L	p.L106L	NM_002710.3	NP_002701.1	P36873	PP1G_HUMAN			3	508	-			106						Silent	SNP	ENST00000335007.5	37	c.318C>T	CCDS9150.1																																																																																				0.418	PPP1CC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404659.1			29	49	0	0	0	1	0	29	49				
ISX	91464	broad.mit.edu	37	22	35463264	35463264	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr22:35463264G>A	ENST00000308700.6	+	1	1136	c.184G>A	c.(184-186)Gcc>Acc	p.A62T	ISX_ENST00000404699.2_Missense_Mutation_p.A62T|RP1-272J12.1_ENST00000448318.4_RNA	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	62					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin A metabolic process (GO:1901738)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						AGAAGCTGCGGCCTCAGGCTC	0.572																																						ENST00000308700.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						c.(184-186)Gcc>Acc		intestine-specific homeobox							30.0	33.0	32.0					22																	35463264		2195	4296	6491	SO:0001583	missense	91464					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:35463264G>A	AK025181	CCDS33640.1	22q12.3	2011-06-20			ENSG00000175329	ENSG00000175329		"""Homeoboxes / PRD class"""	28084	protein-coding gene	gene with protein product		612019					Standard	NM_001008494		Approved	RAXLX	uc003anj.3	Q2M1V0	OTTHUMG00000150962	ENST00000308700.6:c.184G>A	22.37:g.35463264G>A	ENSP00000311492:p.Ala62Thr					ISX_ENST00000404699.2_Missense_Mutation_p.A62T|RP1-272J12.1_ENST00000448318.4_RNA	p.A62T	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN			1	1136	+			62					Q68DJ5	Missense_Mutation	SNP	ENST00000308700.6	37	c.184G>A	CCDS33640.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.477093	0.26511	.	.	ENSG00000175329	ENST00000308700;ENST00000404699	D;D	0.89810	-2.57;-2.57	4.9	1.57	0.23409	Homeodomain-related (1);	0.632219	0.14057	N	0.344281	T	0.74764	0.3759	N	0.19112	0.55	0.09310	N	1	B	0.32302	0.363	B	0.28232	0.087	T	0.60647	-0.7222	10	0.13853	T	0.58	.	5.2655	0.15597	0.1916:0.1678:0.6406:0.0	.	62	Q2M1V0	ISX_HUMAN	T	62	ENSP00000311492:A62T;ENSP00000386037:A62T	ENSP00000311492:A62T	A	+	1	0	ISX	33793264	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.720000	0.25896	0.466000	0.27193	0.655000	0.94253	GCC		0.572	ISX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320662.1	NM_001008494		10	24	0	0	0	1	0	10	24				
ECI2	10455	broad.mit.edu	37	6	4128056	4128056	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:4128056C>T	ENST00000380118.3	-	5	547	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	C6orf201_ENST00000380175.4_Intron|ECI2_ENST00000465828.1_Missense_Mutation_p.E141K|ECI2_ENST00000380125.2_Missense_Mutation_p.E141K|C6orf201_ENST00000333388.5_Intron|ECI2_ENST00000361538.2_Missense_Mutation_p.E141K|ECI2_ENST00000413766.2_Missense_Mutation_p.E4K			O75521	ECI2_HUMAN	enoyl-CoA delta isomerase 2	171	ECH-like.				fatty acid catabolic process (GO:0009062)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	dodecenoyl-CoA delta-isomerase activity (GO:0004165)|fatty-acyl-CoA binding (GO:0000062)|receptor binding (GO:0005102)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						CGCATAATTTCATGATACATC	0.378																																						ENST00000465828.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						c.(421-423)Gaa>Aaa		enoyl-CoA delta isomerase 2							126.0	128.0	127.0					6																	4128056		2203	4300	6503	SO:0001583	missense	10455				fatty acid metabolic process	mitochondrion|peroxisomal matrix	dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding	g.chr6:4128056C>T	AF069301	CCDS4490.1, CCDS43420.1, CCDS43420.2	6p24.3	2011-03-15	2011-03-15	2011-03-15	ENSG00000198721	ENSG00000198721			14601	protein-coding gene	gene with protein product	"""acyl-Coenzyme A binding domain containing 2"", "" Hepatocellular carcinoma-associated antigen 88"""	608024	"""peroxisomal D3,D2-enoyl-CoA isomerase"""	PECI		10419495	Standard	NM_206836		Approved	ACBD2, DRS1, HCA88	uc003mwf.3	O75521	OTTHUMG00000014158	ENST00000380118.3:c.511G>A	6.37:g.4128056C>T	ENSP00000369461:p.Glu171Lys					ECI2_ENST00000413766.2_Missense_Mutation_p.E4K|C6orf201_ENST00000333388.5_Intron|ECI2_ENST00000380125.2_Missense_Mutation_p.E141K|ECI2_ENST00000361538.2_Missense_Mutation_p.E141K|ECI2_ENST00000380118.3_Missense_Mutation_p.E171K|C6orf201_ENST00000380175.4_Intron	p.E141K			O75521	ECI2_HUMAN			5	706	-			171					Q5JYK5|Q5JYK7|Q7L124|Q8N0X0|Q9BUE9|Q9H0T9|Q9NQH1|Q9NYH7|Q9UN55	Missense_Mutation	SNP	ENST00000380118.3	37	c.421G>A	CCDS43420.2	.	.	.	.	.	.	.	.	.	.	C	22.1	4.242359	0.79912	.	.	ENSG00000198721	ENST00000380118;ENST00000380125;ENST00000413766;ENST00000361538;ENST00000465828;ENST00000495548	T;T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07;0.68	5.86	5.86	0.93980	Crotonase, core (1);	0.397452	0.31897	N	0.006896	D	0.87958	0.6309	M	0.89904	3.07	0.58432	D	0.999999	D	0.57257	0.979	P	0.61201	0.885	D	0.87592	0.2491	10	0.44086	T	0.13	.	18.7657	0.91871	0.0:1.0:0.0:0.0	.	171	O75521	ECI2_HUMAN	K	171;141;4;141;141;218	ENSP00000369461:E171K;ENSP00000369468:E141K;ENSP00000406969:E4K;ENSP00000354737:E141K;ENSP00000420309:E141K;ENSP00000417459:E218K	ENSP00000354737:E141K	E	-	1	0	ECI2	4073055	1.000000	0.71417	0.116000	0.21606	0.301000	0.27625	6.454000	0.73493	2.776000	0.95493	0.655000	0.94253	GAA		0.378	ECI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039716.4	NM_006117		52	94	0	0	0	1	0	52	94				
ARHGEF19	128272	broad.mit.edu	37	1	16532755	16532755	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:16532755G>A	ENST00000270747.3	-	7	1354	c.1218C>T	c.(1216-1218)gcC>gcT	p.A406A	ARHGEF19_ENST00000478117.1_5'UTR	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	406	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)		GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|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;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		CGCTCAGCTCGGCAGAGCCTA	0.612																																						ENST00000270747.3																			0				cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12						c.(1216-1218)gcC>gcT		Rho guanine nucleotide exchange factor (GEF) 19							34.0	31.0	32.0					1																	16532755		2203	4296	6499	SO:0001819	synonymous_variant	128272				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr1:16532755G>A	BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"""Rho guanine nucleotide exchange factors"""	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.1218C>T	1.37:g.16532755G>A						ARHGEF19_ENST00000421561.1_Silent_p.A406A|ARHGEF19_ENST00000478117.1_5'UTR	p.A406A	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)	7	1354	-		Colorectal(325;0.000147)|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;0.0646)	406			DH.		A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Silent	SNP	ENST00000270747.3	37	c.1218C>T	CCDS170.1	.	.	.	.	.	.	.	.	.	.	G	9.930	1.214690	0.22289	.	.	ENSG00000142632	ENST00000449495	.	.	.	4.85	-8.32	0.00996	.	.	.	.	.	T	0.33644	0.0870	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46091	-0.9216	4	.	.	.	.	1.9765	0.03417	0.3748:0.3394:0.1492:0.1366	.	.	.	.	L	95	.	.	P	-	2	0	ARHGEF19	16405342	0.000000	0.05858	0.051000	0.19133	0.947000	0.59692	-1.130000	0.03241	-0.770000	0.04614	-0.266000	0.10368	CCG		0.612	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006289.1	NM_153213		4	13	0	0	0	1	0	4	13				
FIGN	55137	broad.mit.edu	37	2	164466821	164466821	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:164466821C>T	ENST00000333129.3	-	3	1835	c.1521G>A	c.(1519-1521)ttG>ttA	p.L507L	FIGN_ENST00000482917.1_5'Flank|FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	507					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CGTCTGACCTCAACACTGGCC	0.507																																						ENST00000333129.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						c.(1519-1521)ttG>ttA		fidgetin							113.0	104.0	107.0					2																	164466821		2003	4190	6193	SO:0001819	synonymous_variant	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164466821C>T	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.1521G>A	2.37:g.164466821C>T						FIGN_ENST00000409634.1_Intron	p.L507L	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN			3	1835	-			507					B3KWM0|Q9H6M5|Q9NVZ9	Silent	SNP	ENST00000333129.3	37	c.1521G>A	CCDS2221.2																																																																																				0.507	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		10	99	0	0	0	1	0	10	99				
CADPS2	93664	broad.mit.edu	37	7	122130254	122130254	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr7:122130254C>T	ENST00000449022.2	-	11	1752	c.1733G>A	c.(1732-1734)aGa>aAa	p.R578K	CADPS2_ENST00000313070.7_Missense_Mutation_p.R578K|CADPS2_ENST00000412584.2_Missense_Mutation_p.R578K|CADPS2_ENST00000476131.1_5'Flank|CADPS2_ENST00000334010.7_Missense_Mutation_p.R578K	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	578	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CCATAATATTCTGTCCTGTTC	0.413																																						ENST00000334010.7																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						c.(1732-1734)aGa>aAa		Ca++-dependent secretion activator 2							155.0	151.0	153.0					7																	122130254		1896	4121	6017	SO:0001583	missense	93664				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	g.chr7:122130254C>T		CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.1733G>A	7.37:g.122130254C>T	ENSP00000398481:p.Arg578Lys					CADPS2_ENST00000313070.7_Missense_Mutation_p.R578K|CADPS2_ENST00000449022.2_Missense_Mutation_p.R578K|CADPS2_ENST00000412584.2_Missense_Mutation_p.R578K	p.R578K	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN			11	2154	-			578			PH.		A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	ENST00000449022.2	37	c.1733G>A	CCDS55158.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.243409	0.79912	.	.	ENSG00000081803	ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022	T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02	5.25	5.25	0.73442	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.87720	0.6248	M	0.65498	2.005	0.80722	D	1	P;B;P	0.47910	0.886;0.214;0.902	P;B;D	0.74674	0.897;0.246;0.984	D	0.88279	0.2935	10	0.66056	D	0.02	-18.1722	18.8508	0.92227	0.0:1.0:0.0:0.0	.	578;578;578	Q86UW7-2;Q86UW7;Q86UW7-3	.;CAPS2_HUMAN;.	K	578;578;578;545;578;578	ENSP00000325581:R578K;ENSP00000333940:R578K;ENSP00000400401:R578K;ENSP00000398481:R578K	ENSP00000325581:R578K	R	-	2	0	CADPS2	121917490	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.718000	0.84743	2.446000	0.82766	0.491000	0.48974	AGA		0.413	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954		11	137	0	0	0	1	0	11	137				
FGD2	221472	broad.mit.edu	37	6	36976630	36976630	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:36976630G>A	ENST00000274963.8	+	2	260	c.89G>A	c.(88-90)aGa>aAa	p.R30K		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	30					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						GCAGCACCCAGAGGCCAGAGG	0.627																																						ENST00000274963.8																			0				central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						c.(88-90)aGa>aAa		FYVE, RhoGEF and PH domain containing 2							49.0	55.0	53.0					6																	36976630		2203	4300	6503	SO:0001583	missense	221472				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr6:36976630G>A	AK097230	CCDS4829.1	6p21.2	2013-01-10	2004-08-24		ENSG00000146192	ENSG00000146192		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3664	protein-coding gene	gene with protein product		605091	"""FGD1 family, member 2"""			10458911	Standard	NM_173558		Approved	ZFYVE4	uc010jwp.1	Q7Z6J4	OTTHUMG00000014616	ENST00000274963.8:c.89G>A	6.37:g.36976630G>A	ENSP00000274963:p.Arg30Lys						p.R30K	NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN			2	260	+			30					Q5T8I1|Q6P6A8|Q6ZNL5|Q8IZ32|Q8N868|Q9H7M2	Missense_Mutation	SNP	ENST00000274963.8	37	c.89G>A	CCDS4829.1	.	.	.	.	.	.	.	.	.	.	G	9.825	1.186762	0.21870	.	.	ENSG00000146192	ENST00000274963	T	0.57436	0.4	5.25	-1.84	0.07809	.	1.047870	0.07504	N	0.907654	T	0.13500	0.0327	L	0.27053	0.805	0.09310	N	1	B;B;B	0.10296	0.001;0.0;0.003	B;B;B	0.06405	0.002;0.0;0.002	T	0.23332	-1.0191	10	0.17369	T	0.5	0.0261	6.1525	0.20320	0.4397:0.1311:0.4292:0.0	.	30;30;30	B4DV77;Q7Z6J4;F8WEZ2	.;FGD2_HUMAN;.	K	30	ENSP00000274963:R30K	ENSP00000274963:R30K	R	+	2	0	FGD2	37084608	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	0.249000	0.18216	-0.274000	0.09232	0.561000	0.74099	AGA		0.627	FGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040398.2	NM_173558		33	94	0	0	0	1	0	33	94				
CLCA4	22802	broad.mit.edu	37	1	87040226	87040226	+	Missense_Mutation	SNP	G	G	A	rs201791111	byFrequency	TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:87040226G>A	ENST00000370563.3	+	10	1513	c.1471G>A	c.(1471-1473)Gaa>Aaa	p.E491K	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	491					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		TAAACAGCTCGAAAGTAAGGG	0.343													G|||	3	0.000599042	0.0008	0.0	5008	,	,		21022	0.0		0.001	False		,,,				2504	0.001					ENST00000370563.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						c.(1471-1473)Gaa>Aaa		chloride channel accessory 4							60.0	55.0	57.0					1																	87040226		1857	4116	5973	SO:0001583	missense	22802					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:87040226G>A	AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"""chloride channel, calcium activated, family member 4"", ""chloride channel regulator 4"""			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.1471G>A	1.37:g.87040226G>A	ENSP00000359594:p.Glu491Lys					RP4-651E10.4_ENST00000456587.1_RNA	p.E491K	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN		all cancers(265;0.0202)|Epithelial(280;0.0404)	10	1513	+		Lung NSC(277;0.238)	491					A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Missense_Mutation	SNP	ENST00000370563.3	37	c.1471G>A	CCDS41355.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	25.7	4.661716	0.88154	.	.	ENSG00000016602	ENST00000370563	T	0.36520	1.25	5.88	5.88	0.94601	Domain of unknown function DUF1973 (1);	0.000000	0.85682	D	0.000000	T	0.62502	0.2433	M	0.87269	2.87	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.74023	0.952;0.982	T	0.67317	-0.5701	10	0.72032	D	0.01	-41.8825	19.8331	0.96643	0.0:0.0:1.0:0.0	.	43;491	Q9NXP1;Q14CN2	.;CLCA4_HUMAN	K	491	ENSP00000359594:E491K	ENSP00000359594:E491K	E	+	1	0	CLCA4	86812814	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	5.462000	0.66707	2.779000	0.95612	0.650000	0.86243	GAA		0.343	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1	NM_012128		21	43	0	0	0	1	0	21	43				
ABCC8	6833	broad.mit.edu	37	11	17474681	17474681	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:17474681C>G	ENST00000389817.3	-	7	1229	c.1161G>C	c.(1159-1161)ttG>ttC	p.L387F	ABCC8_ENST00000302539.4_Missense_Mutation_p.L387F			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	387	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	TTGCTCCTCTCAAGTTAATTC	0.408																																						ENST00000302539.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(1159-1161)ttG>ttC		ATP-binding cassette, sub-family C (CFTR/MRP), member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						131.0	126.0	128.0					11																	17474681		2200	4293	6493	SO:0001583	missense	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17474681C>G	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.1161G>C	11.37:g.17474681C>G	ENSP00000374467:p.Leu387Phe					ABCC8_ENST00000389817.3_Missense_Mutation_p.L387F	p.L387F	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	7	1286	-			387			ABC transmembrane type-1 1.		A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	c.1161G>C	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.662806	0.47572	.	.	ENSG00000006071	ENST00000389817;ENST00000302539;ENST00000379493	D;D	0.91124	-2.79;-2.79	5.67	3.47	0.39725	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.64402	D	0.000003	D	0.90120	0.6913	M	0.77486	2.375	0.53688	D	0.999973	B;B	0.16603	0.018;0.003	B;B	0.25506	0.061;0.016	D	0.88172	0.2865	10	0.44086	T	0.13	.	13.4263	0.61028	0.0:0.8507:0.0:0.1493	.	386;387	B7Z4N0;Q09428	.;ABCC8_HUMAN	F	387;387;401	ENSP00000374467:L387F;ENSP00000303960:L387F	ENSP00000303960:L387F	L	-	3	2	ABCC8	17431257	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.267000	0.33050	1.391000	0.46566	0.655000	0.94253	TTG		0.408	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		36	65	0	0	0	1	0	36	65				
DCHS2	54798	broad.mit.edu	37	4	155226327	155226327	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:155226327C>G	ENST00000357232.4	-	16	3951	c.3952G>C	c.(3952-3954)Gag>Cag	p.E1318Q		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1318	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GAATTTATCTCGAATAATTCA	0.368																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(3952-3954)Gag>Cag		dachsous cadherin-related 2							43.0	44.0	44.0					4																	155226327		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155226327C>G	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.3952G>C	4.37:g.155226327C>G	ENSP00000349768:p.Glu1318Gln						p.E1318Q	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	16	3951	-	all_hematologic(180;0.208)	Renal(120;0.0854)	1318			Cadherin 11.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.3952G>C	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	c	0.076	-1.193168	0.01607	.	.	ENSG00000197410	ENST00000357232	T	0.53206	0.63	6.03	-8.94	0.00768	Cadherin (4);Cadherin-like (1);	1.153500	0.06271	N	0.695581	T	0.27313	0.0670	N	0.20807	0.61	0.34526	D	0.70871	B	0.06786	0.001	B	0.15870	0.014	T	0.21484	-1.0244	10	0.13108	T	0.6	.	13.495	0.61421	0.0:0.0878:0.4526:0.4597	.	1318	Q6V1P9	PCD23_HUMAN	Q	1318	ENSP00000349768:E1318Q	ENSP00000349768:E1318Q	E	-	1	0	DCHS2	155445777	0.022000	0.18835	0.002000	0.10522	0.013000	0.08279	-0.768000	0.04715	-1.572000	0.01661	-1.832000	0.00591	GAG		0.368	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		11	20	0	0	0	1	0	11	20				
MPP3	4356	broad.mit.edu	37	17	41903172	41903172	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr17:41903172G>A	ENST00000398389.4	-	9	726	c.561C>T	c.(559-561)aaC>aaT	p.N187N	MPP3_ENST00000398393.1_Silent_p.N212N	NM_001932.4	NP_001923.2	Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	187	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	guanylate kinase activity (GO:0004385)			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		CTGCGATCCCGTTCACTTCTC	0.607																																						ENST00000398393.1																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26						c.(634-636)aaC>aaT		membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)							81.0	86.0	84.0					17																	41903172		2099	4216	6315	SO:0001819	synonymous_variant	4356				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity	g.chr17:41903172G>A		CCDS42344.1	17q12-q21	2008-07-18			ENSG00000161647	ENSG00000161647			7221	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 3"", ""discs, large (Drosophila) homolog 3"", ""membrane protein palmitoylated 3"""	601114		DLG3		8824795	Standard	NR_003562		Approved		uc002iei.4	Q13368	OTTHUMG00000133838	ENST00000398389.4:c.561C>T	17.37:g.41903172G>A						MPP3_ENST00000398389.4_Silent_p.N187N	p.N212N			Q13368	MPP3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.119)	7	896	-		Breast(137;0.00394)	187			PDZ.		B2R7N0|D3DX47|Q4GX05|Q6PGR3|Q86SV1	Silent	SNP	ENST00000398389.4	37	c.636C>T	CCDS42344.1																																																																																				0.607	MPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258371.1	NM_001932		25	47	0	0	0	1	0	25	47				
KMT2D	8085	broad.mit.edu	37	12	49433935	49433935	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:49433935G>A	ENST00000301067.7	-	31	7617	c.7618C>T	c.(7618-7620)Cag>Tag	p.Q2540*	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2540	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CCTACTGCCTGAGGGAAAGTG	0.642																																						ENST00000301067.7																			0											c.(7618-7620)Cag>Tag		lysine (K)-specific methyltransferase 2D							27.0	29.0	29.0					12																	49433935		1919	4128	6047	SO:0001587	stop_gained	8085							g.chr12:49433935G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.7618C>T	12.37:g.49433935G>A	ENSP00000301067:p.Gln2540*						p.Q2540*	NM_003482.3	NP_003473.3					31	7617	-								O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	c.7618C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	47	13.692856	0.99757	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.21	5.21	0.72293	.	0.000000	0.35466	N	0.003185	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.9117	0.88936	0.0:0.0:1.0:0.0	.	.	.	.	X	2540	.	ENSP00000301067:Q2540X	Q	-	1	0	MLL2	47720202	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.168000	0.58216	2.596000	0.87737	0.591000	0.81541	CAG		0.642	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			22	36	0	0	0	1	0	22	36				
KIF22	3835	broad.mit.edu	37	16	29809785	29809785	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:29809785G>A	ENST00000160827.4	+	3	397	c.357G>A	c.(355-357)caG>caA	p.Q119Q	KIF22_ENST00000561482.1_Silent_p.Q51Q|KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000400751.5_Silent_p.Q51Q|KIF22_ENST00000569382.2_Silent_p.Q51Q	NM_001256269.1|NM_007317.2	NP_001243198.1|NP_015556.1	Q14807	KIF22_HUMAN	kinesin family member 22	119	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA repair (GO:0006281)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						TGGAAGGGCAGAATGCCAGTG	0.542																																						ENST00000561482.1																			0				endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						c.(151-153)caG>caA		kinesin family member 22							123.0	107.0	113.0					16																	29809785		2197	4300	6497	SO:0001819	synonymous_variant	3835				blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding	g.chr16:29809785G>A	D38751	CCDS10653.1, CCDS58444.1	16p11.2	2008-03-03	2003-01-09	2003-01-10	ENSG00000079616	ENSG00000079616		"""Kinesins"""	6391	protein-coding gene	gene with protein product		603213	"""kinesin-like 4"""	KNSL4		8599929, 11416179	Standard	NM_007317		Approved	Kid, OBP-1, OBP-2	uc002dts.4	Q14807	OTTHUMG00000097771	ENST00000160827.4:c.357G>A	16.37:g.29809785G>A						KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000400751.5_Silent_p.Q51Q|KIF22_ENST00000569382.2_Silent_p.Q51Q|KIF22_ENST00000160827.4_Silent_p.Q119Q	p.Q51Q	NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN			3	790	+			119			Kinesin-motor.		B2R5M0|B7Z265|O60845|O94814|Q53F58|Q9BT46	Silent	SNP	ENST00000160827.4	37	c.153G>A	CCDS10653.1																																																																																				0.542	KIF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215012.2			10	136	0	0	0	1	0	10	136				
PLEKHA6	22874	broad.mit.edu	37	1	204214770	204214770	+	Missense_Mutation	SNP	G	G	A	rs377093823		TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:204214770G>A	ENST00000272203.3	-	14	2321	c.2005C>T	c.(2005-2007)Cgg>Tgg	p.R669W	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.R689W	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	669										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			TCCGTGCCCCGGGAGGGGTTG	0.597																																						ENST00000272203.3																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(2005-2007)Cgg>Tgg		pleckstrin homology domain containing, family A member 6		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	110.0	95.0	100.0		2005	4.2	1.0	1		100	0,8600		0,0,4300	no	missense	PLEKHA6	NM_014935.2	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	669/1049	204214770	1,13005	2203	4300	6503	SO:0001583	missense	22874							g.chr1:204214770G>A	AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"""Pleckstrin homology (PH) domain containing"""	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.2005C>T	1.37:g.204214770G>A	ENSP00000272203:p.Arg669Trp					PLEKHA6_ENST00000414478.1_Missense_Mutation_p.R689W	p.R669W	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)		14	2321	-	all_cancers(21;0.0222)|Breast(84;0.179)		669					A7MD51|Q5VTI6	Missense_Mutation	SNP	ENST00000272203.3	37	c.2005C>T	CCDS1444.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.514966	0.85389	2.27E-4	0.0	ENSG00000143850	ENST00000272203;ENST00000414478	T;T	0.35789	1.29;1.29	5.13	4.18	0.49190	.	0.419237	0.24156	N	0.041039	T	0.42268	0.1195	M	0.73962	2.25	0.54753	D	0.999981	D	0.61697	0.99	B	0.43623	0.425	T	0.54510	-0.8283	10	0.66056	D	0.02	-16.8998	14.6452	0.68756	0.0:0.0:0.854:0.146	.	669	Q9Y2H5	PKHA6_HUMAN	W	669;689	ENSP00000272203:R669W;ENSP00000402046:R689W	ENSP00000272203:R669W	R	-	1	2	PLEKHA6	202481393	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.086000	0.57664	2.406000	0.81754	0.563000	0.77884	CGG		0.597	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935		5	99	0	0	0	1	0	5	99				
PSG7	5676	broad.mit.edu	37	19	43430805	43430805	+	RNA	SNP	G	G	C	rs373637874		TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:43430805G>C	ENST00000406070.2	-	0	869				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				GGTGAAGGTTGAGACATCCTT	0.488																																						ENST00000446844.3																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)							310.0	297.0	301.0					19																	43430805		2201	4299	6500			5676				female pregnancy	extracellular region		g.chr19:43430805G>C			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43430805G>C						PSG7_ENST00000406070.2_RNA				Q13046	PSG7_HUMAN			0	862	-		Prostate(69;0.00682)						Q15232	RNA	SNP	ENST00000406070.2	37																																																																																						0.488	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		10	405	0	0	0	1	0	10	405				
SUV39H1	6839	broad.mit.edu	37	X	48558860	48558860	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chrX:48558860G>A	ENST00000376687.3	+	3	734	c.544G>A	c.(544-546)Gag>Aag	p.E182K	SUV39H1_ENST00000453214.2_Intron|AF196970.3_ENST00000416061.1_RNA|SUV39H1_ENST00000337852.6_Missense_Mutation_p.E193K	NM_003173.2	NP_003164.1	O43463	SUV91_HUMAN	suppressor of variegation 3-9 homolog 1 (Drosophila)	182	Pre-SET. {ECO:0000255|PROSITE- ProRule:PRU00157}.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chromatin organization (GO:0006325)|chromatin silencing at rDNA (GO:0000183)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin silencing complex (GO:0005677)|chromosome, centromeric region (GO:0000775)|condensed nuclear chromosome (GO:0000794)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|rDNA heterochromatin (GO:0033553)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|protein N-terminus binding (GO:0047485)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						TGTGGGCTGCGAGTGCCAGGA	0.637																																						ENST00000376687.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(544-546)Gag>Aag		suppressor of variegation 3-9 homolog 1 (Drosophila)							61.0	46.0	51.0					X																	48558860		2203	4300	6503	SO:0001583	missense	6839				cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding	g.chrX:48558860G>A	AF019968	CCDS14304.1, CCDS65252.1	Xp11.23	2011-07-01	2001-11-28		ENSG00000101945	ENSG00000101945		"""Chromatin-modifying enzymes / K-methyltransferases"""	11479	protein-coding gene	gene with protein product		300254	"""suppressor of variegation 3-9 (Drosophila) homolog 1"""	SUV39H		10202156	Standard	NM_001282166		Approved	KMT1A	uc004dkn.3	O43463	OTTHUMG00000022701	ENST00000376687.3:c.544G>A	X.37:g.48558860G>A	ENSP00000365877:p.Glu182Lys					AF196970.3_ENST00000416061.1_RNA|SUV39H1_ENST00000453214.2_Intron|SUV39H1_ENST00000337852.6_Missense_Mutation_p.E193K	p.E182K	NM_003173.2	NP_003164.1	O43463	SUV91_HUMAN			3	734	+			182			Pre-SET.		B2R6E8|B4DST0|Q53G60|Q6FHK6	Missense_Mutation	SNP	ENST00000376687.3	37	c.544G>A	CCDS14304.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.776378	0.49786	.	.	ENSG00000101945	ENST00000337852;ENST00000376687;ENST00000448548;ENST00000422496	D;D	0.89746	-2.56;-2.56	4.93	4.93	0.64822	Pre-SET zinc-binding sub-group (1);Pre-SET domain (2);	0.058471	0.64402	D	0.000002	T	0.80849	0.4702	L	0.35487	1.065	0.80722	D	1	B;B	0.24368	0.048;0.102	B;B	0.24269	0.052;0.052	T	0.74051	-0.3789	10	0.18710	T	0.47	.	8.4486	0.32858	0.1091:0.0:0.8909:0.0	.	193;182	B4DST0;O43463	.;SUV91_HUMAN	K	193;182;180;40	ENSP00000337976:E193K;ENSP00000365877:E182K	ENSP00000337976:E193K	E	+	1	0	SUV39H1	48443804	1.000000	0.71417	0.940000	0.37924	0.970000	0.65996	6.767000	0.74975	2.018000	0.59344	0.502000	0.49764	GAG		0.637	SUV39H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058909.1	NM_003173		36	10	0	0	0	1	0	36	10				
XIST	7503	broad.mit.edu	37	X	73065478	73065478	+	lincRNA	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chrX:73065478G>A	ENST00000429829.1	-	0	7110					NR_001564.2				X inactive specific transcript (non-protein coding)																		AAGGGCATCTGAGAGTAGGAC	0.443																																						ENST00000429829.1																			0																				145.0	129.0	134.0					X																	73065478		876	1991	2867			7503							g.chrX:73065478G>A	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73065478G>A								NR_001564.2						0	7110	-									RNA	SNP	ENST00000429829.1	37																																																																																						0.443	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		9	64	0	0	0	1	0	9	64				
PARP9	83666	broad.mit.edu	37	3	122247306	122247306	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:122247306C>G	ENST00000360356.2	-	11	2697	c.2470G>C	c.(2470-2472)Gaa>Caa	p.E824Q	PARP9_ENST00000471785.1_Missense_Mutation_p.E789Q|PARP9_ENST00000492382.1_Missense_Mutation_p.E369Q|PARP9_ENST00000477522.2_Missense_Mutation_p.E789Q	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	824	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				cell migration (GO:0016477)|double-strand break repair (GO:0006302)|regulation of response to interferon-gamma (GO:0060330)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		TGTACATATTCCTGGGTGCAT	0.463																																						ENST00000360356.2																			0				endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34						c.(2470-2472)Gaa>Caa		poly (ADP-ribose) polymerase family, member 9							140.0	120.0	127.0					3																	122247306		2203	4300	6503	SO:0001583	missense	83666				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr3:122247306C>G	AF307339	CCDS3014.1, CCDS54633.1, CCDS54634.1	3q13-q21	2010-02-16			ENSG00000138496	ENSG00000138496		"""Poly (ADP-ribose) polymerases"""	24118	protein-coding gene	gene with protein product		612065				11110709	Standard	NM_031458		Approved	BAL, BAL1	uc003efi.3	Q8IXQ6	OTTHUMG00000159522	ENST00000360356.2:c.2470G>C	3.37:g.122247306C>G	ENSP00000353512:p.Glu824Gln					PARP9_ENST00000492382.1_Missense_Mutation_p.E369Q|PARP9_ENST00000477522.2_Missense_Mutation_p.E789Q|PARP9_ENST00000471785.1_Missense_Mutation_p.E789Q	p.E824Q	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN		GBM - Glioblastoma multiforme(114;0.0519)	11	2697	-			824			PARP catalytic.		A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Missense_Mutation	SNP	ENST00000360356.2	37	c.2470G>C	CCDS3014.1	.	.	.	.	.	.	.	.	.	.	C	11.32	1.603780	0.28534	.	.	ENSG00000138496	ENST00000360356;ENST00000492382;ENST00000477522;ENST00000471785;ENST00000452457	T;T;T;T	0.10099	3.25;2.91;3.1;3.1	4.77	2.0	0.26442	Poly(ADP-ribose) polymerase, catalytic domain (1);	0.691455	0.12743	N	0.442902	T	0.05135	0.0137	N	0.08118	0	0.09310	N	0.999999	B;B;B	0.16166	0.009;0.016;0.016	B;B;B	0.20384	0.013;0.029;0.029	T	0.45086	-0.9285	10	0.16896	T	0.51	.	8.1955	0.31394	0.0:0.7294:0.0:0.2706	.	824;369;789	Q8IXQ6;G5E9U8;Q8IXQ6-2	PARP9_HUMAN;.;.	Q	824;369;789;789;747	ENSP00000353512:E824Q;ENSP00000417664:E369Q;ENSP00000419506:E789Q;ENSP00000419001:E789Q	ENSP00000353512:E824Q	E	-	1	0	PARP9	123729996	0.180000	0.23148	0.024000	0.17045	0.007000	0.05969	0.132000	0.15891	0.728000	0.32382	0.655000	0.94253	GAA		0.463	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355957.1	NM_031458		93	69	0	0	0	1	0	93	69				
PCNX	22990	broad.mit.edu	37	14	71478220	71478220	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr14:71478220C>G	ENST00000304743.2	+	10	3178	c.2732C>G	c.(2731-2733)tCt>tGt	p.S911C	PCNX_ENST00000439984.3_Missense_Mutation_p.S805C|PCNX_ENST00000238570.5_Missense_Mutation_p.S911C	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	911						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GACACAGATTCTCATGTATCC	0.289																																						ENST00000304743.2																			0				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87						c.(2731-2733)tCt>tGt		pecanex homolog (Drosophila)							104.0	96.0	99.0					14																	71478220		2200	4298	6498	SO:0001583	missense	22990					integral to membrane		g.chr14:71478220C>G	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.2732C>G	14.37:g.71478220C>G	ENSP00000304192:p.Ser911Cys					PCNX_ENST00000238570.5_Missense_Mutation_p.S911C|PCNX_ENST00000439984.3_Missense_Mutation_p.S805C	p.S911C	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	10	3178	+			911					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.2732C>G	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.747344	0.69533	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	T;T;T	0.31247	1.5;1.5;2.72	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.55321	0.1913	M	0.62723	1.935	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79784	0.993;0.993	T	0.54768	-0.8244	10	0.56958	D	0.05	.	19.2783	0.94040	0.0:1.0:0.0:0.0	.	805;911	B2RTR6;Q96RV3	.;PCX1_HUMAN	C	911;911;805	ENSP00000304192:S911C;ENSP00000238570:S911C;ENSP00000396617:S805C	ENSP00000238570:S911C	S	+	2	0	PCNX	70547973	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.215000	0.77966	2.556000	0.86216	0.650000	0.86243	TCT		0.289	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		5	37	0	0	0	1	0	5	37				
MAP4K1	11184	broad.mit.edu	37	19	39108020	39108020	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:39108020G>A	ENST00000591517.1	-	3	250	c.222C>T	c.(220-222)atC>atT	p.I74I	MAP4K1_ENST00000589130.1_Silent_p.I70I|MAP4K1_ENST00000396857.2_Silent_p.I74I|EIF3K_ENST00000592558.1_5'Flank|EIF3K_ENST00000248342.4_5'Flank|MAP4K1_ENST00000586296.1_Silent_p.I74I|EIF3K_ENST00000588934.1_5'Flank|EIF3K_ENST00000538434.1_5'Flank|EIF3K_ENST00000545173.2_5'Flank|EIF3K_ENST00000593149.1_5'Flank	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	74	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGTAGGCCACGATGTTGGCGT	0.557																																						ENST00000591517.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44						c.(220-222)atC>atT		mitogen-activated protein kinase kinase kinase kinase 1							79.0	83.0	81.0					19																	39108020		1961	4141	6102	SO:0001819	synonymous_variant	11184				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity	g.chr19:39108020G>A	U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6863	protein-coding gene	gene with protein product	"""hematopoietic progenitor kinase 1"""	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.222C>T	19.37:g.39108020G>A						MAP4K1_ENST00000589130.1_Silent_p.I70I|MAP4K1_ENST00000586296.1_Silent_p.I74I|MAP4K1_ENST00000396857.2_Silent_p.I74I	p.I74I	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)		3	250	-	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		74			Protein kinase.			Silent	SNP	ENST00000591517.1	37	c.222C>T	CCDS59385.1																																																																																				0.557	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1	NM_001042600		29	58	0	0	0	1	0	29	58				
MAGEA10	4109	broad.mit.edu	37	X	151303324	151303324	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chrX:151303324C>T	ENST00000370323.4	-	4	1085	c.769G>A	c.(769-771)Gat>Aat	p.D257N	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Missense_Mutation_p.D257N	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	257	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TCCATCCCATCATACAGCCCC	0.527																																						ENST00000370323.4																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(769-771)Gat>Aat		melanoma antigen family A, 10							86.0	80.0	82.0					X																	151303324		2203	4300	6503	SO:0001583	missense	4109							g.chrX:151303324C>T		CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"""MAGE-10 antigen"", ""melanoma-associated antigen 10"", ""cancer/testis antigen family 1, member 10"""	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.769G>A	X.37:g.151303324C>T	ENSP00000359347:p.Asp257Asn					MAGEA10_ENST00000244096.3_Missense_Mutation_p.D257N|RP11-1007I13.4_ENST00000509345.2_RNA	p.D257N	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN			4	1085	-	Acute lymphoblastic leukemia(192;6.56e-05)		257			MAGE.			Missense_Mutation	SNP	ENST00000370323.4	37	c.769G>A	CCDS14705.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.231608	0.39399	.	.	ENSG00000124260	ENST00000370323;ENST00000244096	T;T	0.05025	3.51;3.51	2.6	-4.24	0.03777	.	0.718917	0.13053	N	0.417544	T	0.09512	0.0234	M	0.78049	2.395	0.09310	N	1	B	0.31519	0.327	B	0.35470	0.203	T	0.17745	-1.0359	10	0.19590	T	0.45	.	12.9871	0.58598	0.0:0.2424:0.7576:0.0	.	257	P43363	MAGAA_HUMAN	N	257	ENSP00000359347:D257N;ENSP00000244096:D257N	ENSP00000244096:D257N	D	-	1	0	MAGEA10	151053980	0.000000	0.05858	0.000000	0.03702	0.610000	0.37248	-1.064000	0.03461	-1.146000	0.02854	0.292000	0.19580	GAT		0.527	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060916.3	NM_021048		65	28	0	0	0	1	0	65	28				
HEATR5B	54497	broad.mit.edu	37	2	37287853	37287853	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:37287853G>A	ENST00000233099.5	-	12	1815	c.1720C>T	c.(1720-1722)Ctg>Ttg	p.L574L	HEATR5B_ENST00000354531.2_Silent_p.L574L	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	574						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				ATCTTGGGCAGATGGTAACGA	0.428																																						ENST00000233099.5																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77						c.(1720-1722)Ctg>Ttg		HEAT repeat containing 5B							108.0	98.0	101.0					2																	37287853		2203	4300	6503	SO:0001819	synonymous_variant	54497						binding	g.chr2:37287853G>A	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.1720C>T	2.37:g.37287853G>A						HEATR5B_ENST00000354531.2_Silent_p.L574L	p.L574L	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN			12	1815	-		all_hematologic(82;0.21)	574					B5MDU8|Q7Z3B2|Q9NVL7	Silent	SNP	ENST00000233099.5	37	c.1720C>T	CCDS33181.1																																																																																				0.428	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		59	57	0	0	0	1	0	59	57				
KLK2	3817	broad.mit.edu	37	19	51381741	51381741	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:51381741G>A	ENST00000325321.3	+	5	937	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K	KLK2_ENST00000391810.2_Missense_Mutation_p.E136K|KLK2_ENST00000358049.4_3'UTR			P20151	KLK2_HUMAN	kallikrein-related peptidase 2	238	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)		KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		TGCCCTGCCTGAAAAGCCTGC	0.557			T	ETV4	prostate																																	ENST00000325321.3				Dom	yes		19	19q13.41	3817	T	kallikrein-related peptidase 2			E	ETV4		prostate	KLK2/ETV1(3)|KLK2/ETV4(2)	0				large_intestine(3)|lung(6)|ovary(1)|skin(1)	11						c.(712-714)Gaa>Aaa		kallikrein-related peptidase 2							200.0	191.0	194.0					19																	51381741		2203	4300	6503	SO:0001583	missense	3817				proteolysis		serine-type endopeptidase activity	g.chr19:51381741G>A	M18157	CCDS12808.1, CCDS42597.1, CCDS58675.1	19q13.33	2008-02-05	2006-10-27				3.4.21.35	"""Kallikreins"""	6363	protein-coding gene	gene with protein product		147960	"""kallikrein 2, prostatic"""			2468530, 16800724, 16800723	Standard	NM_005551		Approved		uc002ptv.3	P20151		ENST00000325321.3:c.712G>A	19.37:g.51381741G>A	ENSP00000313581:p.Glu238Lys					KLK2_ENST00000391810.2_Missense_Mutation_p.E136K|KLK2_ENST00000358049.4_3'UTR	p.E238K			P20151	KLK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)	5	937	+		all_neural(266;0.026)	238			Peptidase S1.		B4DU93|B4DUB0|F5H8L3|Q15946|Q9UJZ9	Missense_Mutation	SNP	ENST00000325321.3	37	c.712G>A	CCDS12808.1	.	.	.	.	.	.	.	.	.	.	G	9.437	1.087132	0.20390	.	.	ENSG00000167751	ENST00000325321;ENST00000391810	D;D	0.88277	-2.36;-2.36	3.54	-7.07	0.01563	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	2.064530	0.02546	N	0.095146	T	0.77579	0.4151	N	0.16903	0.455	0.09310	N	1	B;B	0.14805	0.011;0.001	B;B	0.16289	0.015;0.005	T	0.65504	-0.6152	10	0.42905	T	0.14	.	6.034	0.19697	0.3116:0.3691:0.3193:0.0	.	221;238	B4DU77;P20151	.;KLK2_HUMAN	K	238;136	ENSP00000313581:E238K;ENSP00000375686:E136K	ENSP00000313581:E238K	E	+	1	0	KLK2	56073553	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.293000	0.02770	-1.681000	0.01448	-0.302000	0.09304	GAA		0.557	KLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464438.3	NM_005551.3		103	184	0	0	0	1	0	103	184				
ZNF182	7569	broad.mit.edu	37	X	47836981	47836981	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chrX:47836981C>A	ENST00000396965.1	-	7	855	c.505G>T	c.(505-507)Gat>Tat	p.D169Y	ZNF182_ENST00000305127.6_Missense_Mutation_p.D169Y|ZNF182_ENST00000376943.3_Missense_Mutation_p.D150Y	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	169					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)			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						TCTAAATTATCTACCATATTA	0.323																																						ENST00000396965.1																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						c.(505-507)Gat>Tat		zinc finger protein 182							70.0	65.0	67.0					X																	47836981		2203	4300	6503	SO:0001583	missense	7569				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:47836981C>A	AK122874, R98366	CCDS35235.1, CCDS35236.1	Xp11.23	2013-01-08	2006-05-10	2006-05-10	ENSG00000147118	ENSG00000147118		"""Zinc fingers, C2H2-type"", ""-"""	13001	protein-coding gene	gene with protein product		314993	"""zinc finger protein 182 (HHZ150)"", ""zinc finger protein 21 (KOX 14)"""	ZNF21		8088786, 2014798, 8914609	Standard	NM_001178099		Approved	KOX14, HHZ150, Zfp182	uc004dit.3	P17025	OTTHUMG00000021460	ENST00000396965.1:c.505G>T	X.37:g.47836981C>A	ENSP00000380165:p.Asp169Tyr					ZNF182_ENST00000305127.6_Missense_Mutation_p.D169Y|ZNF182_ENST00000376943.3_Missense_Mutation_p.D150Y	p.D169Y	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN			7	855	-			169					A2IDD7|Q3KP67|Q96QH7	Missense_Mutation	SNP	ENST00000396965.1	37	c.505G>T	CCDS35236.1	.	.	.	.	.	.	.	.	.	.	C	1.660	-0.511789	0.04200	.	.	ENSG00000147118	ENST00000376943;ENST00000396965;ENST00000305127	T;T;T	0.06933	3.24;3.24;3.24	3.73	3.73	0.42828	.	.	.	.	.	T	0.08626	0.0214	N	0.12182	0.205	0.34439	D	0.699426	B;D;P	0.76494	0.057;0.999;0.94	B;D;P	0.72982	0.032;0.979;0.459	T	0.18053	-1.0349	9	0.02654	T	1	.	6.3374	0.21304	0.0:0.8661:0.0:0.1339	.	149;150;169	B4DRM0;Q96QH7;P17025	.;.;ZN182_HUMAN	Y	150;169;169	ENSP00000366142:D150Y;ENSP00000380165:D169Y;ENSP00000306351:D169Y	ENSP00000306351:D169Y	D	-	1	0	ZNF182	47721925	0.000000	0.05858	1.000000	0.80357	0.948000	0.59901	-0.006000	0.12833	2.123000	0.65237	0.523000	0.50628	GAT		0.323	ZNF182-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277055.1	NM_006962		20	14	1	0	8.34094e-07	1	8.45925e-07	20	14				
ZNF74	7625	broad.mit.edu	37	22	20760525	20760525	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr22:20760525C>T	ENST00000400451.2	+	5	1716	c.1202C>T	c.(1201-1203)tCa>tTa	p.S401L	ZNF74_ENST00000356671.5_Missense_Mutation_p.S401L|ZNF74_ENST00000403682.3_3'UTR|ZNF74_ENST00000357502.5_3'UTR|ZNF74_ENST00000405993.1_Missense_Mutation_p.S369L	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	401					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			ACCTGCCACTCATCCCTCACC	0.637																																						ENST00000400451.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(1201-1203)tCa>tTa		zinc finger protein 74							44.0	58.0	53.0					22																	20760525		2202	4300	6502	SO:0001583	missense	7625				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr22:20760525C>T	X71623	CCDS42982.1, CCDS58794.1	22q11.2	2013-01-08	2006-05-12		ENSG00000185252	ENSG00000185252		"""Zinc fingers, C2H2-type"", ""-"""	13144	protein-coding gene	gene with protein product		194548	"""zinc finger protein 74 (Cos52)"""			1639391, 10591208	Standard	NM_003426		Approved	Cos52, Zfp520, ZNF520	uc010gsm.4	Q16587	OTTHUMG00000150687	ENST00000400451.2:c.1202C>T	22.37:g.20760525C>T	ENSP00000383301:p.Ser401Leu					ZNF74_ENST00000357502.5_3'UTR|ZNF74_ENST00000356671.5_Missense_Mutation_p.S401L|ZNF74_ENST00000403682.3_3'UTR|ZNF74_ENST00000405993.1_Missense_Mutation_p.S369L	p.S401L	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		5	1716	+	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	401					B5MCE3|B7Z5Y2|Q6IBV2|Q6PJP1|Q9UC04|Q9UF05|Q9UF06|Q9UF07	Missense_Mutation	SNP	ENST00000400451.2	37	c.1202C>T	CCDS42982.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.567727	0.65651	.	.	ENSG00000185252	ENST00000400451;ENST00000356671;ENST00000405993	T;T;T	0.07908	3.15;3.15;3.15	3.97	3.97	0.46021	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.259072	0.20546	N	0.090213	T	0.17916	0.0430	M	0.73753	2.245	0.23791	N	0.996833	D	0.54207	0.965	P	0.48598	0.583	T	0.04481	-1.0948	10	0.72032	D	0.01	-14.8036	14.3492	0.66688	0.0:1.0:0.0:0.0	.	401	Q16587	ZNF74_HUMAN	L	401;401;369	ENSP00000383301:S401L;ENSP00000349098:S401L;ENSP00000385855:S369L	ENSP00000349098:S401L	S	+	2	0	ZNF74	19090525	0.000000	0.05858	0.937000	0.37676	0.906000	0.53458	0.648000	0.24828	2.506000	0.84524	0.655000	0.94253	TCA		0.637	ZNF74-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319648.2	NM_003426		6	135	0	0	0	1	0	6	135				
FBXL2	25827	broad.mit.edu	37	3	33425659	33425659	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:33425659A>G	ENST00000484457.1	+	14	1221	c.1130A>G	c.(1129-1131)cAg>cGg	p.Q377R	FBXL2_ENST00000507198.1_Missense_Mutation_p.Q309R|FBXL2_ENST00000538181.1_Missense_Mutation_p.Q293R|FBXL2_ENST00000446237.3_Missense_Mutation_p.Q118R|FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000538892.1_Missense_Mutation_p.Q309R|FBXL2_ENST00000542085.1_Missense_Mutation_p.Q87R	NM_012157.3	NP_036289.3			F-box and leucine-rich repeat protein 2											endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						TACGACTGCCAGCAGGTTACC	0.567																																						ENST00000484457.1																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						c.(1129-1131)cAg>cGg		F-box and leucine-rich repeat protein 2							60.0	54.0	56.0					3																	33425659		2203	4300	6503	SO:0001583	missense	25827				interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity	g.chr3:33425659A>G	AF174589	CCDS2658.1, CCDS54560.1	3p22.3	2011-06-09			ENSG00000153558	ENSG00000153558		"""F-boxes / Leucine-rich repeats"""	13598	protein-coding gene	gene with protein product		605652				10508920, 10531035	Standard	NM_012157		Approved	FBL2, FBL3	uc003cfp.3	Q9UKC9	OTTHUMG00000130745	ENST00000484457.1:c.1130A>G	3.37:g.33425659A>G	ENSP00000417601:p.Gln377Arg					FBXL2_ENST00000542085.1_Missense_Mutation_p.Q87R|FBXL2_ENST00000538892.1_Missense_Mutation_p.Q309R|FBXL2_ENST00000538181.1_Missense_Mutation_p.Q293R|FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000446237.3_Missense_Mutation_p.Q118R|FBXL2_ENST00000507198.1_Missense_Mutation_p.Q309R	p.Q377R	NM_012157.3	NP_036289.3	Q9UKC9	FBXL2_HUMAN			14	1221	+			377						Missense_Mutation	SNP	ENST00000484457.1	37	c.1130A>G	CCDS2658.1	.	.	.	.	.	.	.	.	.	.	A	16.72	3.202671	0.58234	.	.	ENSG00000153558	ENST00000484457;ENST00000538892;ENST00000538181;ENST00000446237;ENST00000507198;ENST00000542085	T;T;T;T;T;T	0.30981	1.93;1.93;1.93;1.51;1.93;1.93	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.31606	0.0802	L	0.39245	1.2	0.80722	D	1	P;P;B	0.49783	0.928;0.928;0.35	P;P;B	0.46975	0.533;0.533;0.275	T	0.02860	-1.1101	10	0.27785	T	0.31	.	15.0323	0.71717	1.0:0.0:0.0:0.0	.	293;272;377	B4E1B8;B4DMM3;Q9UKC9	.;.;FBXL2_HUMAN	R	377;309;293;118;309;87	ENSP00000417601:Q377R;ENSP00000441228:Q309R;ENSP00000440794:Q293R;ENSP00000389251:Q118R;ENSP00000426163:Q309R;ENSP00000445039:Q87R	ENSP00000389251:Q118R	Q	+	2	0	FBXL2	33400663	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	9.231000	0.95317	2.085000	0.62840	0.460000	0.39030	CAG		0.567	FBXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253245.2	NM_012157		43	64	0	0	0	1	0	43	64				
STK24	8428	broad.mit.edu	37	13	99127078	99127078	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr13:99127078C>T	ENST00000376547.3	-	5	775	c.630G>A	c.(628-630)tcG>tcA	p.S210S	STK24_ENST00000539966.1_Silent_p.S179S|STK24_ENST00000397517.2_Silent_p.S198S	NM_003576.3	NP_003567.2	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24	210	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of cell migration (GO:0030336)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of axon regeneration (GO:0048679)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CCCTCACCTTCGAGTCATAGG	0.587																																						ENST00000397517.2																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17						c.(592-594)tcG>tcA		serine/threonine kinase 24							84.0	91.0	89.0					13																	99127078		2203	4300	6503	SO:0001819	synonymous_variant	8428				cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr13:99127078C>T	AF024636	CCDS9488.1, CCDS32001.1, CCDS66573.1	13q31.2-q32.3	2010-06-25	2010-06-25		ENSG00000102572	ENSG00000102572			11403	protein-coding gene	gene with protein product	"""STE20-like kinase 3"", ""sterile 20-like kinase 3"""	604984	"""serine/threonine kinase 24 (Ste20, yeast homolog)"""			9353338, 10644707	Standard	NM_003576		Approved	MST-3, MST3, MST3B, STK3, STE20	uc001vnn.1	Q9Y6E0	OTTHUMG00000017250	ENST00000376547.3:c.630G>A	13.37:g.99127078C>T						STK24_ENST00000376547.3_Silent_p.S210S|STK24_ENST00000539966.1_Silent_p.S179S	p.S198S	NM_001032296.2	NP_001027467.2	Q9Y6E0	STK24_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		5	670	-	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		210			Protein kinase.		O14840|Q5JV92	Silent	SNP	ENST00000376547.3	37	c.594G>A	CCDS9488.1	.	.	.	.	.	.	.	.	.	.	C	5.729	0.319014	0.10845	.	.	ENSG00000102572	ENST00000444574	.	.	.	5.24	-10.5	0.00291	.	.	.	.	.	T	0.58075	0.2097	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.75494	-0.3298	4	.	.	.	.	13.7261	0.62759	0.0:0.0637:0.4927:0.4436	.	.	.	.	K	116	.	.	E	-	1	0	STK24	97925079	0.071000	0.21146	0.044000	0.18714	0.599000	0.36880	-0.692000	0.05127	-4.173000	0.00067	-2.260000	0.00280	GAA		0.587	STK24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045549.2	NM_003576		63	128	0	0	0	1	0	63	128				
ACTL7A	10881	broad.mit.edu	37	9	111624686	111624686	+	Silent	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:111624686C>G	ENST00000333999.3	+	1	84	c.84C>G	c.(82-84)ctC>ctG	p.L28L		NM_006687.2	NP_006678.1	Q9Y615	ACL7A_HUMAN	actin-like 7A	28						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|male germ cell nucleus (GO:0001673)|motile cilium (GO:0031514)|nucleus (GO:0005634)|protein complex (GO:0043234)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CACAGGCCCTCCAGACTGCCT	0.617																																					Esophageal Squamous(177;1480 3591 17554)	ENST00000333999.3																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(82-84)ctC>ctG		actin-like 7A							35.0	43.0	40.0					9																	111624686		2203	4300	6503	SO:0001819	synonymous_variant	10881					cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton	g.chr9:111624686C>G	BC014610	CCDS6772.1	9q31	2008-02-05			ENSG00000187003	ENSG00000187003			161	protein-coding gene	gene with protein product		604303				10373328	Standard	NM_006687		Approved		uc004bdj.1	Q9Y615	OTTHUMG00000020461	ENST00000333999.3:c.84C>G	9.37:g.111624686C>G							p.L28L	NM_006687.2	NP_006678.1	Q9Y615	ACL7A_HUMAN			1	84	+			28					B2RC83|Q5JSV0	Silent	SNP	ENST00000333999.3	37	c.84C>G	CCDS6772.1																																																																																				0.617	ACTL7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053570.1	NM_006687		8	87	0	0	0	1	0	8	87				
MYRF	745	broad.mit.edu	37	11	61548799	61548799	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:61548799C>T	ENST00000278836.5	+	21	2858	c.2762C>T	c.(2761-2763)tCa>tTa	p.S921L	MYRF_ENST00000389602.4_Missense_Mutation_p.S312L|MYRF_ENST00000265460.5_Missense_Mutation_p.S886L|TMEM258_ENST00000535042.1_Intron	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	921					central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										accaaccGCTCAGGTAAGGCT	0.597																																						ENST00000278836.5																			0											c.(2761-2763)tCa>tTa		myelin regulatory factor							66.0	63.0	64.0					11																	61548799		2202	4299	6501	SO:0001583	missense	745							g.chr11:61548799C>T		CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.2762C>T	11.37:g.61548799C>T	ENSP00000278836:p.Ser921Leu					MYRF_ENST00000265460.5_Missense_Mutation_p.S886L|MYRF_ENST00000389602.4_Missense_Mutation_p.S312L|TMEM258_ENST00000535042.1_Intron	p.S921L	NM_001127392.1	NP_001120864.1					21	2858	+								O43582|Q9P1Q6	Missense_Mutation	SNP	ENST00000278836.5	37	c.2762C>T	CCDS44622.1	.	.	.	.	.	.	.	.	.	.	C	11.86	1.763889	0.31228	.	.	ENSG00000124920	ENST00000278836;ENST00000265460;ENST00000389602	T;T;T	0.32515	1.49;1.45;1.48	4.44	4.44	0.53790	.	0.737520	0.13022	N	0.420034	T	0.23249	0.0562	N	0.19112	0.55	0.80722	D	1	B;B;B	0.27450	0.124;0.161;0.179	B;B;B	0.27380	0.05;0.079;0.077	T	0.09796	-1.0658	10	0.72032	D	0.01	-5.4497	13.2961	0.60298	0.0:1.0:0.0:0.0	.	312;886;921	B4DHB2;Q9Y2G1-2;Q9Y2G1	.;.;MRF_HUMAN	L	921;886;312	ENSP00000278836:S921L;ENSP00000265460:S886L;ENSP00000374253:S312L	ENSP00000265460:S886L	S	+	2	0	C11orf9	61305375	0.998000	0.40836	1.000000	0.80357	0.057000	0.15508	2.357000	0.44125	2.415000	0.81967	0.561000	0.74099	TCA		0.597	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279		48	73	0	0	0	1	0	48	73				
CEP63	80254	broad.mit.edu	37	3	134265047	134265047	+	Silent	SNP	C	C	G	rs200936751		TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:134265047C>G	ENST00000337090.3	+	8	1019	c.846C>G	c.(844-846)ctC>ctG	p.L282L	CEP63_ENST00000354446.3_Silent_p.L282L|CEP63_ENST00000513612.2_Silent_p.L282L|CEP63_ENST00000606977.1_Silent_p.L282L|CEP63_ENST00000383229.3_Silent_p.L282L|CEP63_ENST00000332047.5_Silent_p.L282L			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	282					centriole replication (GO:0007099)|DNA damage checkpoint (GO:0000077)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|signal transduction in response to DNA damage (GO:0042770)|spindle assembly (GO:0051225)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|spindle pole (GO:0000922)				kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AAGAAAATCTCATACATGAGG	0.328																																						ENST00000337090.3																			0				kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(844-846)ctC>ctG		centrosomal protein 63kDa							78.0	82.0	81.0					3																	134265047		2203	4300	6503	SO:0001819	synonymous_variant	80254				cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding	g.chr3:134265047C>G	AK056465	CCDS3086.1, CCDS43152.1, CCDS43153.1, CCDS43154.1	3q22.1	2014-02-20			ENSG00000182923	ENSG00000182923			25815	protein-coding gene	gene with protein product		614724				14654843, 24240477	Standard	NM_001042383		Approved	FLJ13386	uc003eqo.1	Q96MT8	OTTHUMG00000159725	ENST00000337090.3:c.846C>G	3.37:g.134265047C>G						CEP63_ENST00000513612.2_Silent_p.L282L|CEP63_ENST00000383229.3_Silent_p.L282L|CEP63_ENST00000354446.3_Silent_p.L282L|CEP63_ENST00000332047.5_Silent_p.L282L|CEP63_ENST00000606977.1_Silent_p.L282L	p.L282L			Q96MT8	CEP63_HUMAN			8	1019	+			282					D3DND8|D3DND9|D3DNE0|Q96CR0|Q9H8F5|Q9H8N0	Silent	SNP	ENST00000337090.3	37	c.846C>G	CCDS3086.1	.	.	.	.	.	.	.	.	.	.	C	1.304	-0.603954	0.03717	.	.	ENSG00000182923	ENST00000504929	.	.	.	6.1	3.31	0.37934	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0035	8.0583	0.30619	0.0:0.7312:0.1307:0.1381	.	.	.	.	X	17	.	.	S	+	2	0	CEP63	135747737	0.990000	0.36364	0.826000	0.32828	0.194000	0.23727	0.079000	0.14782	0.438000	0.26450	0.650000	0.86243	TCA		0.328	CEP63-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000470139.1	NM_025180		75	57	0	0	0	1	0	75	57				
ZNF365	22891	broad.mit.edu	37	10	64415251	64415251	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr10:64415251C>T	ENST00000395251.1	+	4	585	c.251C>T	c.(250-252)tCa>tTa	p.S84L	ZNF365_ENST00000395249.1_Intron|AC067751.1_ENST00000579246.1_RNA|ZNF365_ENST00000410046.3_Intron	NM_199452.3	NP_955524	Q70YC4	TALAN_HUMAN	zinc finger protein 365	84										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					GGTAATTCATCAGATCTGGAA	0.527																																						ENST00000395251.1																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(250-252)tCa>tTa		zinc finger protein 365							145.0	114.0	124.0					10																	64415251		2203	4300	6503	SO:0001583	missense	22891							g.chr10:64415251C>T	AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"""Zinc fingers, C2H2-type"""	18194	protein-coding gene	gene with protein product	"""Talanin"""	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395251.1:c.251C>T	10.37:g.64415251C>T	ENSP00000378672:p.Ser84Leu					ZNF365_ENST00000395249.1_Intron|ZNF365_ENST00000410046.3_Intron	p.S84L	NM_199452.3	NP_955524.3	Q70YC4	TALAN_HUMAN			4	585	+	Prostate(12;0.0297)|all_hematologic(501;0.228)		84						Missense_Mutation	SNP	ENST00000395251.1	37	c.251C>T	CCDS7265.1	.	.	.	.	.	.	.	.	.	.	C	10.78	1.446517	0.25987	.	.	ENSG00000138311	ENST00000395251	T	0.54479	0.57	4.75	-9.51	0.00581	.	.	.	.	.	T	0.23330	0.0564	N	0.08118	0	0.09310	N	0.999996	B	0.02656	0.0	B	0.04013	0.001	T	0.35943	-0.9768	9	0.87932	D	0	.	3.435	0.07442	0.0879:0.2913:0.3495:0.2713	.	84	Q70YC4	TALAN_HUMAN	L	84	ENSP00000378672:S84L	ENSP00000378672:S84L	S	+	2	0	ZNF365	64085257	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-2.007000	0.01457	-3.166000	0.00226	-1.267000	0.01435	TCA		0.527	ZNF365-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277036.1	NM_014951		28	58	0	0	0	1	0	28	58				
NFE2L2	4780	broad.mit.edu	37	2	178098810	178098810	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:178098810C>T	ENST00000397062.3	-	2	789	c.235G>A	c.(235-237)Gag>Aag	p.E79K	NFE2L2_ENST00000397063.4_Missense_Mutation_p.E63K|NFE2L2_ENST00000423513.1_Missense_Mutation_p.E63K|NFE2L2_ENST00000446151.2_Missense_Mutation_p.E63K|NFE2L2_ENST00000464747.1_Missense_Mutation_p.E63K	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	79					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E79K(10)|p.E79Q(10)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCACCTGTCTCTTCATCTAGT	0.443			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												ENST00000397062.3				Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			"""NSCLC, HNSCC"""		20	Substitution - Missense(20)	p.E79K(10)|p.E79Q(10)	lung(13)|oesophagus(4)|upper_aerodigestive_tract(1)|urinary_tract(1)|cervix(1)	central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158						c.(235-237)Gag>Aag		nuclear factor, erythroid 2-like 2							147.0	146.0	146.0					2																	178098810		1899	4107	6006	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178098810C>T		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.235G>A	2.37:g.178098810C>T	ENSP00000380252:p.Glu79Lys	HNSCC(56;0.16)				NFE2L2_ENST00000397063.4_Missense_Mutation_p.E63K|NFE2L2_ENST00000464747.1_Missense_Mutation_p.E63K|NFE2L2_ENST00000446151.2_Missense_Mutation_p.E63K|NFE2L2_ENST00000423513.1_Missense_Mutation_p.E63K	p.E79K	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		2	789	-			79					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.235G>A	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936470	0.73442	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48;1.48	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.64271	0.2583	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;1.0;1.0	D;D;D;D	0.85130	0.996;0.985;0.997;0.996	T	0.68700	-0.5339	10	0.72032	D	0.01	.	19.9976	0.97389	0.0:1.0:0.0:0.0	.	63;63;63;79	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	K	63;79;63;63;63;63;63	ENSP00000380253:E63K;ENSP00000380252:E79K;ENSP00000411575:E63K;ENSP00000391590:E63K;ENSP00000400073:E63K;ENSP00000412191:E63K;ENSP00000410015:E63K	ENSP00000380252:E79K	E	-	1	0	NFE2L2	177807056	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.298000	0.78815	2.737000	0.93849	0.563000	0.77884	GAG		0.443	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		6	55	0	0	0	1	0	6	55				
FGFR3	2261	broad.mit.edu	37	4	1803568	1803568	+	Missense_Mutation	SNP	C	C	G	rs121913483		TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:1803568C>G	ENST00000260795.2	+	6	848	c.746C>G	c.(745-747)tCc>tGc	p.S249C	FGFR3_ENST00000340107.4_Missense_Mutation_p.S249C|FGFR3_ENST00000412135.2_Missense_Mutation_p.S249C|FGFR3_ENST00000352904.1_Missense_Mutation_p.S249C|FGFR3_ENST00000481110.2_Missense_Mutation_p.S249C|FGFR3_ENST00000440486.2_Missense_Mutation_p.S249C|FGFR3_ENST00000474521.1_3'UTR			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	249			S -> C (in KERSEB, bladder cancer, cervical cancer and TD1). {ECO:0000269|PubMed:10360402, ECO:0000269|PubMed:10471491, ECO:0000269|PubMed:15772091, ECO:0000269|PubMed:8589699, ECO:0000269|PubMed:8845844}.		alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)	p.S249C(1204)|p.R248_S249del(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	ACAGAGCGCTCCCCGCACCGG	0.736		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome																													ENST00000340107.4		1		Dom	yes		4	4p16.3	2261	"""Mis, T"""	fibroblast growth factor receptor 3	yes	"""Hypochondroplasia, Thanatophoric dysplasia"""	"""L, E"""	"""IGH@, ETV6"""		"""bladder, MM, T-cell lymphoma"""		1205	Substitution - Missense(1204)|Deletion - In frame(1)	p.S249C(1204)|p.R248_S249del(1)	urinary_tract(1168)|skin(27)|cervix(5)|lung(4)|upper_aerodigestive_tract(1)	NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091	GRCh37	CM950470	FGFR3	M	rs121913483	c.(745-747)tCc>tGc		fibroblast growth factor receptor 3	Palifermin(DB00039)						13.0	16.0	15.0					4																	1803568		2180	4267	6447	SO:0001583	missense	2261	Saethre-Chotzen syndrome;Muenke syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	g.chr4:1803568C>G	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3690	protein-coding gene	gene with protein product		134934	"""achondroplasia, thanatophoric dwarfism"""	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.746C>G	4.37:g.1803568C>G	ENSP00000260795:p.Ser249Cys					FGFR3_ENST00000352904.1_Missense_Mutation_p.S249C|FGFR3_ENST00000260795.2_Missense_Mutation_p.S249C|FGFR3_ENST00000481110.2_Missense_Mutation_p.S249C|FGFR3_ENST00000440486.2_Missense_Mutation_p.S249C|FGFR3_ENST00000412135.2_Missense_Mutation_p.S249C|FGFR3_ENST00000474521.1_3'UTR	p.S249C	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		7	1002	+		Breast(71;0.212)|all_epithelial(65;0.241)	249		S -> C (in KERSEB, bladder cancer, cervical cancer and TD1).			D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Missense_Mutation	SNP	ENST00000260795.2	37	c.746C>G	CCDS3353.1	.	.	.	.	.	.	.	.	.	.	c	18.75	3.690127	0.68271	.	.	ENSG00000068078	ENST00000481110;ENST00000340107;ENST00000440486;ENST00000412135;ENST00000260795;ENST00000352904;ENST00000507588	D;T;T;T;T;T;T	0.82081	-1.57;-1.35;-1.33;-1.33;-1.33;-1.33;-1.32	3.94	3.94	0.45596	.	0.000000	0.85682	D	0.000000	D	0.92808	0.7713	M	0.92412	3.305	0.30597	A	0.239052	D;D;D;D;D;D	0.89917	0.998;0.997;1.0;1.0;1.0;1.0	P;D;D;D;D;D	0.80764	0.906;0.978;0.983;0.994;0.968;0.993	D	0.94822	0.7988	9	0.72032	D	0.01	.	16.2883	0.82736	0.0:1.0:0.0:0.0	.	212;249;249;249;249;249	Q8NI15;P22607-2;P22607-4;P22607-3;P22607;F8W9L4	.;.;.;.;FGFR3_HUMAN;.	C	249;249;249;249;249;249;69	ENSP00000420533:S249C;ENSP00000339824:S249C;ENSP00000414914:S249C;ENSP00000412903:S249C;ENSP00000260795:S249C;ENSP00000231803:S249C;ENSP00000427289:S69C	ENSP00000260795:S249C	S	+	2	0	FGFR3	1773366	1.000000	0.71417	1.000000	0.80357	0.445000	0.32107	7.424000	0.80242	1.903000	0.55091	0.436000	0.28706	TCC		0.736	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2	NM_000142		9	18	0	0	0	1	0	9	18				
LPHN1	22859	broad.mit.edu	37	19	14277832	14277832	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:14277832C>T	ENST00000340736.6	-	5	702	c.405G>A	c.(403-405)caG>caA	p.Q135Q	CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000361434.3_Intron|LPHN1_ENST00000591528.1_5'UTR|CTB-55O6.12_ENST00000588387.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	135					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTTTACCTTTCTGCTCCACTT	0.393																																						ENST00000340736.6																			0				central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(403-405)caG>caA		latrophilin 1							209.0	186.0	194.0					19																	14277832		2203	4300	6503	SO:0001819	synonymous_variant	22859				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr19:14277832C>T	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"""-"", ""GPCR / Class B : Orphans"""	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.405G>A	19.37:g.14277832C>T						CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000361434.3_Intron|LPHN1_ENST00000591528.1_5'UTR|CTB-55O6.12_ENST00000588387.1_RNA	p.Q135Q	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN			5	702	-			135					Q96IE7|Q9BU07|Q9HAR3	Silent	SNP	ENST00000340736.6	37	c.405G>A	CCDS32928.1																																																																																				0.393	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		20	43	0	0	0	1	0	20	43				
CHD9	80205	broad.mit.edu	37	16	53262993	53262993	+	Missense_Mutation	SNP	G	G	C	rs371787563		TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:53262993G>C	ENST00000398510.3	+	7	2354	c.2267G>C	c.(2266-2268)aGa>aCa	p.R756T	CHD9_ENST00000566029.1_Missense_Mutation_p.R756T|CHD9_ENST00000564845.1_Missense_Mutation_p.R756T|CHD9_ENST00000447540.1_Missense_Mutation_p.R756T			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	756	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CAAGCACAAAGAGCACATTTT	0.333																																						ENST00000566029.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(2266-2268)aGa>aCa		chromodomain helicase DNA binding protein 9		G	THR/ARG	0,3616		0,0,1808	32.0	29.0	30.0		2267	5.4	1.0	16		30	1,8135		0,1,4067	no	missense	CHD9	NM_025134.4	71	0,1,5875	CC,CG,GG		0.0123,0.0,0.0085	benign	756/2882	53262993	1,11751	1808	4068	5876	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53262993G>C	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.2267G>C	16.37:g.53262993G>C	ENSP00000381522:p.Arg756Thr					CHD9_ENST00000447540.1_Missense_Mutation_p.R756T|CHD9_ENST00000398510.3_Missense_Mutation_p.R756T|CHD9_ENST00000564845.1_Missense_Mutation_p.R756T	p.R756T			Q3L8U1	CHD9_HUMAN			8	2476	+		all_cancers(37;0.0212)	756			Chromo 1.		B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.2267G>C		.	.	.	.	.	.	.	.	.	.	G	13.39	2.222212	0.39300	0.0	1.23E-4	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	D;D	0.86865	-2.1;-2.18	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000009	D	0.82518	0.5054	N	0.16478	0.41	0.53688	D	0.999971	B;B;P;P	0.50819	0.0;0.057;0.9;0.939	B;B;B;P	0.48677	0.002;0.054;0.382;0.586	T	0.79645	-0.1717	10	0.13853	T	0.58	-16.6159	19.0948	0.93246	0.0:0.0:1.0:0.0	.	282;756;756;756	B4DR07;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	T	756;756;282	ENSP00000396345:R756T;ENSP00000381522:R756T	ENSP00000219084:R282T	R	+	2	0	CHD9	51820494	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.894000	0.87336	2.498000	0.84270	0.460000	0.39030	AGA		0.333	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		5	9	0	0	0	1	0	5	9				
CCDC93	54520	broad.mit.edu	37	2	118715997	118715997	+	Missense_Mutation	SNP	G	G	A	rs200247512		TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:118715997G>A	ENST00000376300.2	-	12	1086	c.949C>T	c.(949-951)Cgg>Tgg	p.R317W	CCDC93_ENST00000319432.5_Missense_Mutation_p.R316W|CCDC93_ENST00000460781.1_5'UTR	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	317								p.R317G(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						ATGACTTTCCGGCGATGTAGC	0.398																																						ENST00000376300.2																			2	Substitution - Missense(2)	p.R317G(2)	prostate(1)|breast(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						c.(949-951)Cgg>Tgg		coiled-coil domain containing 93							125.0	109.0	114.0					2																	118715997		2203	4300	6503	SO:0001583	missense	54520							g.chr2:118715997G>A	BC028609	CCDS2121.2	2q14.1	2008-02-05			ENSG00000125633	ENSG00000125633			25611	protein-coding gene	gene with protein product						12477932	Standard	NM_019044		Approved	FLJ10996	uc002tlj.3	Q567U6	OTTHUMG00000058517	ENST00000376300.2:c.949C>T	2.37:g.118715997G>A	ENSP00000365477:p.Arg317Trp					CCDC93_ENST00000319432.5_Missense_Mutation_p.R316W|CCDC93_ENST00000460781.1_5'UTR	p.R317W	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN			12	1086	-			317					A8K3V7|Q4LE78|Q53TJ2|Q8TBX5|Q9H6R5|Q9NV15	Missense_Mutation	SNP	ENST00000376300.2	37	c.949C>T	CCDS2121.2	.	.	.	.	.	.	.	.	.	.	G	15.46	2.839064	0.51057	.	.	ENSG00000125633	ENST00000376300;ENST00000319432	T;T	0.24723	1.84;1.85	5.33	5.33	0.75918	.	0.124524	0.51477	D	0.000096	T	0.46112	0.1376	L	0.53249	1.67	0.38116	D	0.937714	D	0.89917	1.0	D	0.79784	0.993	T	0.46624	-0.9178	10	0.87932	D	0	-1.4156	14.4662	0.67485	0.0:0.0:1.0:0.0	.	317	Q567U6	CCD93_HUMAN	W	317;316	ENSP00000365477:R317W;ENSP00000324135:R316W	ENSP00000324135:R316W	R	-	1	2	CCDC93	118432467	0.989000	0.36119	0.989000	0.46669	0.138000	0.21146	2.782000	0.47758	2.789000	0.95967	0.558000	0.71614	CGG		0.398	CCDC93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000129615.1	NM_019044		6	59	0	0	0	1	0	6	59				
CAMSAP1	157922	broad.mit.edu	37	9	138712793	138712793	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:138712793G>A	ENST00000389532.4	-	11	3778	c.3714C>T	c.(3712-3714)ctC>ctT	p.L1238L	CAMSAP1_ENST00000312405.6_Silent_p.L960L|CAMSAP1_ENST00000409386.3_Silent_p.L1249L|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1238					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TCAGGTCGGAGAGGTCCACTT	0.642																																						ENST00000389532.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47						c.(3712-3714)ctC>ctT		calmodulin regulated spectrin-associated protein 1							43.0	41.0	42.0					9																	138712793		2203	4300	6503	SO:0001819	synonymous_variant	157922					cytoplasm|microtubule		g.chr9:138712793G>A	AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.3714C>T	9.37:g.138712793G>A						CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Silent_p.L960L|CAMSAP1_ENST00000409386.3_Silent_p.L1249L	p.L1238L	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	11	3778	-			1238					A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Silent	SNP	ENST00000389532.4	37	c.3714C>T	CCDS35176.2																																																																																				0.642	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		34	47	0	0	0	1	0	34	47				
NKX2-2	4821	broad.mit.edu	37	20	21492988	21492988	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr20:21492988C>G	ENST00000377142.4	-	2	751	c.395G>C	c.(394-396)cGa>cCa	p.R132P	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	132					astrocyte differentiation (GO:0048708)|brain development (GO:0007420)|digestive tract development (GO:0048565)|endocrine pancreas development (GO:0031018)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|oligodendrocyte development (GO:0014003)|optic nerve development (GO:0021554)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell fate commitment (GO:0003327)|ventral spinal cord interneuron fate determination (GO:0060580)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|core promoter proximal region DNA binding (GO:0001159)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GAAAAGCACTCGCCGCTTTCG	0.682																																						ENST00000377142.4																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(394-396)cGa>cCa		NK2 homeobox 2							18.0	20.0	19.0					20																	21492988		2202	4299	6501	SO:0001583	missense	4821				brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity	g.chr20:21492988C>G	AF019415	CCDS13145.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125820	ENSG00000125820		"""Homeoboxes / ANTP class : NKL subclass"""	7835	protein-coding gene	gene with protein product		604612	"""NK-2 (Drosophila) homolog B"", ""NK2 transcription factor related, locus 2 (Drosophila)"""	NKX2B		9703340, 1346742	Standard	NM_002509		Approved	NKX2.2	uc002wsi.3	O95096	OTTHUMG00000170524	ENST00000377142.4:c.395G>C	20.37:g.21492988C>G	ENSP00000366347:p.Arg132Pro						p.R132P	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN			2	751	-			132						Missense_Mutation	SNP	ENST00000377142.4	37	c.395G>C	CCDS13145.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.902113	0.92035	.	.	ENSG00000125820	ENST00000377142	D	0.99176	-5.52	4.92	4.92	0.64577	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99585	0.9850	H	0.97415	4	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97672	1.0167	10	0.87932	D	0	.	17.7093	0.88317	0.0:1.0:0.0:0.0	.	132	O95096	NKX22_HUMAN	P	132	ENSP00000366347:R132P	ENSP00000366347:R132P	R	-	2	0	NKX2-2	21440988	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.752000	0.85141	2.255000	0.74692	0.462000	0.41574	CGA		0.682	NKX2-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078278.9			3	33	0	0	0	1	0	3	33				
KCNH3	23416	broad.mit.edu	37	12	49951477	49951477	+	Nonsense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:49951477C>G	ENST00000257981.6	+	15	3253	c.2993C>G	c.(2992-2994)tCa>tGa	p.S998*	MCRS1_ENST00000547182.1_5'Flank	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	998	Pro-rich.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						ACCTCCACCTCAGACTCAGAG	0.692																																						ENST00000257981.6																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(2992-2994)tCa>tGa		potassium voltage-gated channel, subfamily H (eag-related), member 3							40.0	43.0	42.0					12																	49951477		2203	4300	6503	SO:0001587	stop_gained	23416				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	g.chr12:49951477C>G	AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.2993C>G	12.37:g.49951477C>G	ENSP00000257981:p.Ser998*						p.S998*	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN			15	3253	+			998			Pro-rich.		Q9UQ06	Nonsense_Mutation	SNP	ENST00000257981.6	37	c.2993C>G	CCDS8786.1	.	.	.	.	.	.	.	.	.	.	C	40	8.283968	0.98742	.	.	ENSG00000135519	ENST00000257981	.	.	.	5.02	5.02	0.67125	.	0.000000	0.37136	N	0.002229	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	13.7179	0.62710	0.0:1.0:0.0:0.0	.	.	.	.	X	998	.	ENSP00000257981:S998X	S	+	2	0	KCNH3	48237744	0.885000	0.30320	1.000000	0.80357	0.990000	0.78478	2.225000	0.42954	2.607000	0.88179	0.561000	0.74099	TCA		0.692	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	NM_012284		45	77	0	0	0	1	0	45	77				
CNIH2	254263	broad.mit.edu	37	11	66049742	66049742	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:66049742G>C	ENST00000311445.6	+	2	352	c.94G>C	c.(94-96)Gat>Cat	p.D32H	CNIH2_ENST00000528852.1_Missense_Mutation_p.D32H|YIF1A_ENST00000526497.1_5'Flank|CNIH2_ENST00000530519.1_3'UTR	NM_182553.2	NP_872359.1	Q6PI25	CNIH2_HUMAN	cornichon family AMPA receptor auxiliary protein 2	32					intracellular signal transduction (GO:0035556)|localization within membrane (GO:0051668)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of membrane potential (GO:0042391)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5						CATAGCCTTTGATGAGCTGCG	0.592																																						ENST00000528852.1																			0				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(94-96)Gat>Cat		cornichon family AMPA receptor auxiliary protein 2							76.0	70.0	72.0					11																	66049742		2200	4295	6495	SO:0001583	missense	254263				intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|dendritic spine|endoplasmic reticulum membrane|postsynaptic density|postsynaptic membrane	protein binding	g.chr11:66049742G>C	BC047953	CCDS8131.1	11q13.2	2013-08-28	2013-08-28		ENSG00000174871	ENSG00000174871			28744	protein-coding gene	gene with protein product		611288	"""cornichon homolog 2 (Drosophila)"""			12477932	Standard	NM_182553		Approved	MGC50896, Cnil, CNIH-2	uc001ohi.2	Q6PI25	OTTHUMG00000166919	ENST00000311445.6:c.94G>C	11.37:g.66049742G>C	ENSP00000310003:p.Asp32His					CNIH2_ENST00000311445.6_Missense_Mutation_p.D32H|CNIH2_ENST00000530519.1_3'UTR	p.D32H			Q6PI25	CNIH2_HUMAN			2	361	+			32						Missense_Mutation	SNP	ENST00000311445.6	37	c.94G>C	CCDS8131.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548111	0.65311	.	.	ENSG00000174871	ENST00000528852;ENST00000311445	T;T	0.45276	0.9;0.9	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.71316	0.3325	M	0.88031	2.925	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.76846	-0.2808	10	0.72032	D	0.01	-17.3843	18.1857	0.89792	0.0:0.0:1.0:0.0	.	32;32	Q6PI25;E9PS15	CNIH2_HUMAN;.	H	32	ENSP00000432177:D32H;ENSP00000310003:D32H	ENSP00000310003:D32H	D	+	1	0	CNIH2	65806318	1.000000	0.71417	1.000000	0.80357	0.509000	0.34042	6.953000	0.75995	2.659000	0.90383	0.563000	0.77884	GAT		0.592	CNIH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000391892.1	NM_182553		37	55	0	0	0	1	0	37	55				
KLHL1	57626	broad.mit.edu	37	13	70281924	70281924	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr13:70281924C>T	ENST00000377844.4	-	10	2779	c.2020G>A	c.(2020-2022)Gat>Aat	p.D674N	KLHL1_ENST00000545028.1_Missense_Mutation_p.D481N	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	674					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GTTTTGGGATCATATCTAAAA	0.368																																						ENST00000377844.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						c.(2020-2022)Gat>Aat		kelch-like family member 1							89.0	77.0	81.0					13																	70281924		2203	4299	6502	SO:0001583	missense	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70281924C>T	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.2020G>A	13.37:g.70281924C>T	ENSP00000367075:p.Asp674Asn					KLHL1_ENST00000545028.1_Missense_Mutation_p.D481N	p.D674N	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	10	2779	-		Breast(118;0.000162)	674					A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	37	c.2020G>A	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.308282	0.81247	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	D;D	0.86769	-2.17;-2.17	5.43	5.43	0.79202	Galactose oxidase, beta-propeller (1);	0.000000	0.64402	D	0.000006	D	0.90369	0.6986	L	0.38953	1.18	0.58432	D	0.999998	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.951	D	0.87576	0.2481	10	0.25106	T	0.35	.	19.6195	0.95650	0.0:1.0:0.0:0.0	.	674;674	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	N	674;481	ENSP00000367075:D674N;ENSP00000439602:D481N	ENSP00000367075:D674N	D	-	1	0	KLHL1	69179925	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.587000	0.82613	2.710000	0.92621	0.650000	0.86243	GAT		0.368	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		22	36	0	0	0	1	0	22	36				
DNAH10	196385	broad.mit.edu	37	12	124416584	124416584	+	Missense_Mutation	SNP	C	C	T	rs571838240		TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:124416584C>T	ENST00000409039.3	+	75	12896	c.12871C>T	c.(12871-12873)Cct>Tct	p.P4291S	DNAH10_ENST00000538983.1_3'UTR|DNAH10OS_ENST00000514254.2_Intron|CCDC92_ENST00000544798.1_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4291					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AAGGCTTGCTCCTGACACCTT	0.507																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(12871-12873)Cct>Tct		dynein, axonemal, heavy chain 10							95.0	99.0	97.0					12																	124416584		1970	4150	6120	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124416584C>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.12871C>T	12.37:g.124416584C>T	ENSP00000386770:p.Pro4291Ser					CCDC92_ENST00000544798.1_Intron|DNAH10OS_ENST00000514254.2_Intron|DNAH10_ENST00000538983.1_3'UTR	p.P4291S	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	75	12896	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		4291					C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.12871C>T	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	C	21.2	4.116373	0.77323	.	.	ENSG00000197653	ENST00000409039	T	0.08193	3.12	5.13	5.13	0.70059	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.29223	0.0727	M	0.71206	2.165	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	T	0.00827	-1.1550	10	0.52906	T	0.07	.	18.5666	0.91119	0.0:1.0:0.0:0.0	.	4291	Q8IVF4	DYH10_HUMAN	S	4291	ENSP00000386770:P4291S	ENSP00000386770:P4291S	P	+	1	0	DNAH10	122982537	1.000000	0.71417	0.996000	0.52242	0.470000	0.32858	6.047000	0.71038	2.551000	0.86045	0.563000	0.77884	CCT		0.507	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			47	61	0	0	0	1	0	47	61				
GIGYF2	26058	broad.mit.edu	37	2	233677127	233677127	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:233677127C>T	ENST00000409547.1	+	20	2344	c.2033C>T	c.(2032-2034)tCa>tTa	p.S678L	GIGYF2_ENST00000409480.1_Missense_Mutation_p.S700L|GIGYF2_ENST00000409451.3_Missense_Mutation_p.S699L|GIGYF2_ENST00000373566.3_Missense_Mutation_p.S700L|GIGYF2_ENST00000409196.3_Missense_Mutation_p.S672L|GIGYF2_ENST00000373563.4_Missense_Mutation_p.S678L|GIGYF2_ENST00000452341.2_Missense_Mutation_p.S509L	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	678	Gln-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		ATCATTCCCTCAGTAACTAGG	0.373																																						ENST00000373566.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63						c.(2098-2100)tCa>tTa		GRB10 interacting GYF protein 2							86.0	82.0	83.0					2																	233677127		2203	4300	6503	SO:0001583	missense	26058				cell death		protein binding	g.chr2:233677127C>T	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.2033C>T	2.37:g.233677127C>T	ENSP00000386537:p.Ser678Leu					GIGYF2_ENST00000409451.3_Missense_Mutation_p.S699L|GIGYF2_ENST00000373563.4_Missense_Mutation_p.S678L|GIGYF2_ENST00000409196.3_Missense_Mutation_p.S672L|GIGYF2_ENST00000409547.1_Missense_Mutation_p.S678L|GIGYF2_ENST00000452341.2_Missense_Mutation_p.S509L|GIGYF2_ENST00000409480.1_Missense_Mutation_p.S700L	p.S700L			Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	19	2296	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	678			Gln-rich.		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Missense_Mutation	SNP	ENST00000409547.1	37	c.2099C>T	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.823447	0.90873	.	.	ENSG00000204120	ENST00000373566;ENST00000414511;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000535418;ENST00000423659;ENST00000409196;ENST00000409451;ENST00000440945;ENST00000452341	T;T;T;T;T;T;T;T;T	0.75050	-0.79;-0.77;-0.79;-0.77;-0.87;-0.77;-0.79;-0.9;-0.64	5.28	5.28	0.74379	.	0.140222	0.49916	D	0.000130	T	0.81004	0.4733	M	0.61703	1.905	0.39289	D	0.964695	D;D;B;P	0.58970	0.98;0.984;0.18;0.956	P;P;B;P	0.53861	0.736;0.632;0.111;0.549	T	0.81265	-0.1011	10	0.37606	T	0.19	-1.7543	18.9136	0.92496	0.0:1.0:0.0:0.0	.	509;699;678;672	E9PC50;A6H8W4;Q6Y7W6;E9PBB0	.;.;PERQ2_HUMAN;.	L	700;621;678;700;678;678;621;672;699;672;509	ENSP00000362667:S700L;ENSP00000362664:S678L;ENSP00000386765:S700L;ENSP00000386537:S678L;ENSP00000404195:S621L;ENSP00000387070:S672L;ENSP00000387170:S699L;ENSP00000410297:S672L;ENSP00000411505:S509L	ENSP00000362664:S678L	S	+	2	0	GIGYF2	233385371	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.145000	0.77365	2.469000	0.83416	0.655000	0.94253	TCA		0.373	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		4	51	0	0	0	1	0	4	51				
APP	351	broad.mit.edu	37	21	27326976	27326976	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr21:27326976C>G	ENST00000346798.3	-	13	1648	c.1615G>C	c.(1615-1617)Gag>Cag	p.E539Q	APP_ENST00000358918.3_Missense_Mutation_p.E539Q|APP_ENST00000440126.3_Missense_Mutation_p.E515Q|APP_ENST00000448388.2_Missense_Mutation_p.E429Q|APP_ENST00000354192.3_Missense_Mutation_p.E408Q|APP_ENST00000439274.2_Missense_Mutation_p.E483Q|APP_ENST00000357903.3_Missense_Mutation_p.E520Q|APP_ENST00000359726.3_Missense_Mutation_p.E483Q|APP_ENST00000348990.5_Missense_Mutation_p.E464Q	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	539	Collagen-binding.				adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				TTCATGCGCTCATAAATCACA	0.458																																						ENST00000358918.3																			0				endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1615-1617)Gag>Cag		amyloid beta (A4) precursor protein							106.0	82.0	90.0					21																	27326976		2203	4300	6503	SO:0001583	missense	351				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity	g.chr21:27326976C>G	M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"""Endogenous ligands"""	620	protein-coding gene	gene with protein product	"""peptidase nexin-II"""	104760	"""Alzheimer disease"""	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.1615G>C	21.37:g.27326976C>G	ENSP00000284981:p.Glu539Gln					APP_ENST00000346798.3_Missense_Mutation_p.E539Q|APP_ENST00000359726.3_Missense_Mutation_p.E483Q|APP_ENST00000448388.2_Missense_Mutation_p.E429Q|APP_ENST00000439274.2_Missense_Mutation_p.E483Q|APP_ENST00000440126.3_Missense_Mutation_p.E515Q|APP_ENST00000348990.5_Missense_Mutation_p.E464Q|APP_ENST00000357903.3_Missense_Mutation_p.E520Q|APP_ENST00000354192.3_Missense_Mutation_p.E408Q	p.E539Q	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN			13	1814	-		Breast(209;0.00295)	539			Collagen-binding.		B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	Missense_Mutation	SNP	ENST00000346798.3	37	c.1615G>C	CCDS13576.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.184476|5.184476	0.94885|0.94885	.|.	.|.	ENSG00000142192|ENSG00000142192	ENST00000346798;ENST00000354192;ENST00000348990;ENST00000357903;ENST00000358918;ENST00000359726;ENST00000448388;ENST00000440126;ENST00000439274;ENST00000456209|ENST00000448850	T;T;T;T;T;T;T;T;T;T|.	0.50001|.	0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76|.	5.52|5.52	5.52|5.52	0.82312|0.82312	Amyloidogenic glycoprotein, E2 domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.75737|.	0.3890|.	M|M	0.73217|0.73217	2.22|2.22	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D|.	0.71674|.	0.998;0.997;0.992;0.998;0.99;0.99;0.993|.	D;D;D;D;D;D;D|.	0.72338|.	0.956;0.956;0.977;0.926;0.961;0.961;0.943|.	T|.	0.73824|.	-0.3861|.	10|.	0.87932|.	D|.	0|.	-31.6398|-31.6398	18.1776|18.1776	0.89766|0.89766	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	429;483;515;408;464;520;539|.	E9PEV0;E9PG40;B4DII8;P05067-10;P05067-4;P05067-8;P05067|.	.;.;.;.;.;.;A4_HUMAN|.	Q|S	539;408;464;520;539;483;429;515;483;126|441	ENSP00000284981:E539Q;ENSP00000346129:E408Q;ENSP00000345463:E464Q;ENSP00000350578:E520Q;ENSP00000351796:E539Q;ENSP00000352760:E483Q;ENSP00000388538:E429Q;ENSP00000387483:E515Q;ENSP00000398879:E483Q;ENSP00000397795:E126Q|.	ENSP00000284981:E539Q|.	E|X	-|-	1|2	0|2	APP|APP	26248847|26248847	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.989000|0.989000	0.77384|0.77384	7.278000|7.278000	0.78587|0.78587	2.878000|2.878000	0.98634|0.98634	0.650000|0.650000	0.86243|0.86243	GAG|TGA		0.458	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171340.1	NM_000484		13	20	0	0	0	1	0	13	20				
KRT75	9119	broad.mit.edu	37	12	52818532	52818532	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:52818532G>A	ENST00000252245.5	-	9	1645	c.1425C>T	c.(1423-1425)gtC>gtT	p.V475V	RP11-1020M18.10_ENST00000548135.1_RNA	NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	475	Tail.				hematopoietic progenitor cell differentiation (GO:0002244)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		GAGTAGAGGTGACCACAGCTG	0.617																																						ENST00000252245.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28						c.(1423-1425)gtC>gtT		keratin 75							55.0	57.0	56.0					12																	52818532		2203	4300	6503	SO:0001819	synonymous_variant	9119					keratin filament	structural molecule activity	g.chr12:52818532G>A	Y19212	CCDS8827.1	12q13.13	2013-06-25			ENSG00000170454	ENSG00000170454		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24431	protein-coding gene	gene with protein product		609025				9856802, 10692104, 16831889	Standard	NM_004693		Approved	K6HF	uc001saj.2	O95678	OTTHUMG00000169592	ENST00000252245.5:c.1425C>T	12.37:g.52818532G>A						RP11-1020M18.10_ENST00000548135.1_RNA	p.V475V	NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.192)	9	1645	-			475			Tail.		B4DQU4|Q9NSA9	Silent	SNP	ENST00000252245.5	37	c.1425C>T	CCDS8827.1																																																																																				0.617	KRT75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404968.1	NM_004693		10	183	0	0	0	1	0	10	183				
SCN11A	11280	broad.mit.edu	37	3	38912184	38912184	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:38912184C>G	ENST00000302328.3	-	22	4009	c.3811G>C	c.(3811-3813)Gag>Cag	p.E1271Q	SCN11A_ENST00000456224.3_Missense_Mutation_p.E1233Q|SCN11A_ENST00000450244.1_Missense_Mutation_p.E1271Q|SCN11A_ENST00000444237.2_Missense_Mutation_p.E1271Q	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1271					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGACTCACCTCTGTGGAATCA	0.418																																						ENST00000302328.3																			0				NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119						c.(3811-3813)Gag>Cag		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)						104.0	96.0	99.0					3																	38912184		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38912184C>G	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.3811G>C	3.37:g.38912184C>G	ENSP00000307599:p.Glu1271Gln					SCN11A_ENST00000456224.3_Missense_Mutation_p.E1233Q|SCN11A_ENST00000450244.1_Missense_Mutation_p.E1271Q|SCN11A_ENST00000444237.2_Missense_Mutation_p.E1271Q	p.E1271Q	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	22	4009	-			1271					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.3811G>C	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	C	7.081	0.570320	0.13560	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.96265	-3.96;-3.96;-3.91;-3.9	4.55	2.7	0.31948	Ion transport (1);	0.429079	0.24156	N	0.041036	D	0.93090	0.7800	L	0.58810	1.83	0.25684	N	0.985766	B	0.20052	0.041	B	0.22152	0.038	D	0.85181	0.1004	10	0.34782	T	0.22	.	5.953	0.19257	0.0:0.6062:0.1457:0.2481	.	1271	Q9UI33	SCNBA_HUMAN	Q	1271;1271;1233;1271	ENSP00000307599:E1271Q;ENSP00000400945:E1271Q;ENSP00000416757:E1233Q;ENSP00000408028:E1271Q	ENSP00000307599:E1271Q	E	-	1	0	SCN11A	38887188	0.000000	0.05858	0.021000	0.16686	0.219000	0.24729	0.014000	0.13333	1.028000	0.39785	0.491000	0.48974	GAG		0.418	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		23	38	0	0	0	1	0	23	38				
TEX15	56154	broad.mit.edu	37	8	30702870	30702870	+	Missense_Mutation	SNP	T	T	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr8:30702870T>G	ENST00000256246.2	-	1	3738	c.3664A>C	c.(3664-3666)Agt>Cgt	p.S1222R		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1222					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GCGTCACAACTGTTTTCTTTA	0.284																																						ENST00000256246.2																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(3664-3666)Agt>Cgt		testis expressed 15							36.0	36.0	36.0					8																	30702870		2202	4296	6498	SO:0001583	missense	56154							g.chr8:30702870T>G	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.3664A>C	8.37:g.30702870T>G	ENSP00000256246:p.Ser1222Arg						p.S1222R	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	3738	-			1222						Missense_Mutation	SNP	ENST00000256246.2	37	c.3664A>C	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	T	2.636	-0.285231	0.05605	.	.	ENSG00000133863	ENST00000256246	T	0.22945	1.93	4.97	-0.568	0.11760	.	1.307980	0.04944	N	0.459044	T	0.19644	0.0472	L	0.34521	1.04	0.09310	N	1	B	0.22003	0.063	B	0.21917	0.037	T	0.38757	-0.9646	10	0.87932	D	0	.	4.8234	0.13403	0.309:0.0:0.3186:0.3724	.	1222	Q9BXT5	TEX15_HUMAN	R	1222	ENSP00000256246:S1222R	ENSP00000256246:S1222R	S	-	1	0	TEX15	30822412	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.104000	0.10923	0.279000	0.22186	0.533000	0.62120	AGT		0.284	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			13	12	0	0	0	1	0	13	12				
CYP4F12	66002	broad.mit.edu	37	19	15807254	15807254	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:15807254C>T	ENST00000550308.1	+	12	1709	c.1329C>T	c.(1327-1329)ttC>ttT	p.F443F	CYP4F12_ENST00000324632.10_Silent_p.F443F	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	443					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	ACGACCCCTTCCGCTTTGACC	0.557																																						ENST00000550308.1																			0				NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						c.(1327-1329)ttC>ttT		cytochrome P450, family 4, subfamily F, polypeptide 12							118.0	114.0	115.0					19																	15807254		2202	4300	6502	SO:0001819	synonymous_variant	66002							g.chr19:15807254C>T	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.1329C>T	19.37:g.15807254C>T						CYP4F12_ENST00000324632.9_Silent_p.F443F	p.F443F	NM_023944.3	NP_076433.3					12	1709	+	Acute lymphoblastic leukemia(2;0.0367)							E7ET51|O60389|Q5JPJ7|Q9HCS1	Silent	SNP	ENST00000550308.1	37	c.1329C>T	CCDS42517.1																																																																																				0.557	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			79	141	0	0	0	1	0	79	141				
ADAM23	8745	broad.mit.edu	37	2	207427003	207427003	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:207427003C>T	ENST00000264377.3	+	13	1659	c.1331C>T	c.(1330-1332)tCt>tTt	p.S444F	ADAM23_ENST00000374415.3_Missense_Mutation_p.S444F|ADAM23_ENST00000374416.1_Missense_Mutation_p.S444F	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	444	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TGGGAACCTTCTAGCAGAAAG	0.393																																					Melanoma(194;1127 2130 19620 24042 27855)	ENST00000264377.3																			0				NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51						c.(1330-1332)tCt>tTt		ADAM metallopeptidase domain 23							188.0	184.0	185.0					2																	207427003		2203	4300	6503	SO:0001583	missense	8745				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr2:207427003C>T	AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"""ADAM metallopeptidase domain containing"""	202	protein-coding gene	gene with protein product		603710	"""a disintegrin and metalloproteinase domain 23"""			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.1331C>T	2.37:g.207427003C>T	ENSP00000264377:p.Ser444Phe					ADAM23_ENST00000374416.1_Missense_Mutation_p.S444F|ADAM23_ENST00000374415.3_Missense_Mutation_p.S444F	p.S444F	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)	13	1659	+			444			Peptidase M12B.		A2RU59	Missense_Mutation	SNP	ENST00000264377.3	37	c.1331C>T	CCDS2369.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.064956	0.76187	.	.	ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000431817;ENST00000374415	T;T;T	0.64085	-0.08;-0.08;-0.08	5.83	5.83	0.93111	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.107759	0.42053	D	0.000776	T	0.62060	0.2397	N	0.22421	0.69	0.49389	D	0.999782	B	0.33919	0.432	P	0.46940	0.532	T	0.63673	-0.6584	10	0.56958	D	0.05	.	16.3852	0.83502	0.0:0.8685:0.1315:0.0	.	444	O75077	ADA23_HUMAN	F	444;444;338;444	ENSP00000264377:S444F;ENSP00000363537:S444F;ENSP00000363536:S444F	ENSP00000264377:S444F	S	+	2	0	ADAM23	207135248	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.421000	0.59848	2.770000	0.95276	0.655000	0.94253	TCT		0.393	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	NM_003812		99	161	0	0	0	1	0	99	161				
SMARCAL1	50485	broad.mit.edu	37	2	217293450	217293450	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:217293450G>A	ENST00000357276.4	+	7	1609	c.1279G>A	c.(1279-1281)Gaa>Aaa	p.E427K	SMARCAL1_ENST00000479008.1_3'UTR|SMARCAL1_ENST00000358207.5_Missense_Mutation_p.E427K	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	427					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		AGACCTTTCTGAAGTGGACCC	0.522									Schimke Immuno-Osseous Dysplasia																													ENST00000357276.4																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42						c.(1279-1281)Gaa>Aaa		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1							164.0	147.0	153.0					2																	217293450		2203	4300	6503	SO:0001583	missense	50485	Schimke Immuno-Osseous Dysplasia	Familial Cancer Database	SIOD	chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity	g.chr2:217293450G>A	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"""HepA-related protein"", ""ATP-driven annealing helicase"""	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.1279G>A	2.37:g.217293450G>A	ENSP00000349823:p.Glu427Lys					SMARCAL1_ENST00000358207.5_Missense_Mutation_p.E427K|SMARCAL1_ENST00000479008.1_3'UTR	p.E427K	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)	7	1609	+		Renal(323;0.0458)	427					A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Missense_Mutation	SNP	ENST00000357276.4	37	c.1279G>A	CCDS2403.1	.	.	.	.	.	.	.	.	.	.	G	6.529	0.465858	0.12402	.	.	ENSG00000138375	ENST00000357276;ENST00000358207;ENST00000427645;ENST00000392128	D;D;T;D	0.93488	-3.23;-3.23;1.58;-3.23	6.07	1.93	0.25924	.	1.087090	0.06742	N	0.778460	D	0.82444	0.5038	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.69544	-0.5117	10	0.07325	T	0.83	-0.0921	5.8291	0.18570	0.2255:0.2456:0.5289:0.0	.	427	Q9NZC9	SMAL1_HUMAN	K	427;427;309;291	ENSP00000349823:E427K;ENSP00000350940:E427K;ENSP00000392997:E309K;ENSP00000375974:E291K	ENSP00000349823:E427K	E	+	1	0	SMARCAL1	217001695	0.000000	0.05858	0.084000	0.20598	0.921000	0.55340	0.510000	0.22723	0.338000	0.23692	-0.176000	0.13171	GAA		0.522	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2			62	107	0	0	0	1	0	62	107				
SSPO	23145	broad.mit.edu	37	7	149529910	149529910	+	RNA	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr7:149529910G>A	ENST00000378016.2	+	0	15327							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TAGACCCGGAGAGCCCTGTGC	0.642																																						ENST00000378016.2																			0													SCO-spondin							39.0	47.0	44.0					7																	149529910		2046	4209	6255			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149529910G>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149529910G>A										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	15327	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.642	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				31	51	0	0	0	1	0	31	51				
GLIS3	169792	broad.mit.edu	37	9	3879429	3879429	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:3879429C>G	ENST00000324333.10	-	7	2023	c.1830G>C	c.(1828-1830)gaG>gaC	p.E610D	GLIS3_ENST00000461870.1_5'UTR|RP11-252M18.3_ENST00000422150.1_RNA|GLIS3_ENST00000381971.3_Missense_Mutation_p.E765D	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	610					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.E610E(1)|p.E765E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GGCCTTACCTCTCAGCTCCTG	0.517																																						ENST00000324333.10																			2	Substitution - coding silent(2)	p.E610E(1)|p.E765E(1)	lung(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26						c.(1828-1830)gaG>gaC		GLIS family zinc finger 3							106.0	100.0	102.0					9																	3879429		2203	4300	6503	SO:0001583	missense	169792				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding	g.chr9:3879429C>G	BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"""Zinc fingers, C2H2-type"""	28510	protein-coding gene	gene with protein product		610192	"""zinc finger protein 515"""	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.1830G>C	9.37:g.3879429C>G	ENSP00000325494:p.Glu610Asp					GLIS3_ENST00000381971.3_Missense_Mutation_p.E765D|GLIS3_ENST00000461870.1_5'UTR	p.E610D	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)	7	2023	-		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)	610					B1AL19|Q1PHK5	Missense_Mutation	SNP	ENST00000324333.10	37	c.1830G>C	CCDS6451.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.875858	0.33162	.	.	ENSG00000107249	ENST00000324333;ENST00000381971	T;T	0.52526	0.66;0.66	5.77	3.72	0.42706	.	0.232232	0.28343	N	0.015684	T	0.30727	0.0774	N	0.17082	0.46	0.23063	N	0.998356	D;B;B;B	0.60575	0.988;0.002;0.01;0.022	P;B;B;B	0.50659	0.647;0.003;0.006;0.011	T	0.27434	-1.0074	10	0.02654	T	1	.	6.1777	0.20453	0.3278:0.5686:0.0:0.1036	.	205;278;765;610	Q59FQ6;Q1PHK3;Q8NEA6-2;Q8NEA6	.;.;.;GLIS3_HUMAN	D	610;765	ENSP00000325494:E610D;ENSP00000371398:E765D	ENSP00000325494:E610D	E	-	3	2	GLIS3	3869429	0.999000	0.42202	1.000000	0.80357	0.985000	0.73830	0.378000	0.20569	1.456000	0.47831	-0.127000	0.14921	GAG		0.517	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	NM_152629		7	99	0	0	0	1	0	7	99				
FRAS1	80144	broad.mit.edu	37	4	79362387	79362387	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:79362387G>A	ENST00000325942.6	+	41	6041	c.5601G>A	c.(5599-5601)caG>caA	p.Q1867Q	FRAS1_ENST00000264895.6_Silent_p.Q1867Q	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1867					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACAACCTCCAGAGAGATGCCA	0.423																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(5599-5601)caG>caA		Fraser syndrome 1							96.0	88.0	91.0					4																	79362387		1901	4120	6021	SO:0001819	synonymous_variant	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79362387G>A	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.5601G>A	4.37:g.79362387G>A						FRAS1_ENST00000325942.6_Silent_p.Q1867Q	p.Q1867Q	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			41	6041	+			1866					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000325942.6	37	c.5601G>A	CCDS54772.1	.	.	.	.	.	.	.	.	.	.	G	7.982	0.751297	0.15778	.	.	ENSG00000138759	ENST00000510944;ENST00000512123	.	.	.	6.08	3.42	0.39159	.	.	.	.	.	T	0.39036	0.1063	.	.	.	0.22240	N	0.999267	.	.	.	.	.	.	T	0.21177	-1.0253	4	.	.	.	.	10.448	0.44505	0.2597:0.0:0.7403:0.0	.	.	.	.	K	317;96	.	.	E	+	1	0	FRAS1	79581411	0.441000	0.25626	0.966000	0.40874	0.970000	0.65996	1.069000	0.30641	0.888000	0.36160	0.591000	0.81541	GAG		0.423	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			11	25	0	0	0	1	0	11	25				
MAP3K13	9175	broad.mit.edu	37	3	185183554	185183554	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:185183554G>C	ENST00000265026.3	+	9	1742	c.1408G>C	c.(1408-1410)Gaa>Caa	p.E470Q	MAP3K13_ENST00000535426.1_Missense_Mutation_p.E326Q|MAP3K13_ENST00000443863.1_Missense_Mutation_p.E326Q|MAP3K13_ENST00000446828.1_Missense_Mutation_p.E263Q|MAP3K13_ENST00000424227.1_Missense_Mutation_p.E470Q	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13											NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GGATATTCGTGAACACTATGA	0.468																																						ENST00000265026.3																			0				NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(1408-1410)Gaa>Caa		mitogen-activated protein kinase kinase kinase 13							137.0	143.0	141.0					3																	185183554		2203	4300	6503	SO:0001583	missense	9175				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr3:185183554G>C	BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.1408G>C	3.37:g.185183554G>C	ENSP00000265026:p.Glu470Gln					MAP3K13_ENST00000535426.1_Missense_Mutation_p.E326Q|MAP3K13_ENST00000424227.1_Missense_Mutation_p.E470Q|MAP3K13_ENST00000446828.1_Missense_Mutation_p.E263Q|MAP3K13_ENST00000443863.1_Missense_Mutation_p.E326Q	p.E470Q	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		9	1742	+	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		470						Missense_Mutation	SNP	ENST00000265026.3	37	c.1408G>C	CCDS3270.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.227298	0.58668	.	.	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026;ENST00000420577	T;T;T;T;T;T	0.78481	-1.18;-1.15;-1.06;-1.06;-1.15;-0.93	5.03	5.03	0.67393	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.78923	0.4360	L	0.38838	1.175	0.80722	D	1	P;P;P	0.44877	0.845;0.705;0.76	P;P;P	0.50970	0.655;0.521;0.54	T	0.78760	-0.2078	10	0.41790	T	0.15	.	18.4037	0.90526	0.0:0.0:1.0:0.0	.	326;263;470	O43283-4;O43283-5;O43283	.;.;M3K13_HUMAN	Q	263;470;326;326;470;215	ENSP00000411483:E263Q;ENSP00000399910:E470Q;ENSP00000409325:E326Q;ENSP00000439257:E326Q;ENSP00000265026:E470Q;ENSP00000415712:E215Q	ENSP00000265026:E470Q	E	+	1	0	MAP3K13	186666248	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.771000	0.98977	2.345000	0.79718	0.655000	0.94253	GAA		0.468	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721		9	269	0	0	0	1	0	9	269				
HVCN1	84329	broad.mit.edu	37	12	111098987	111098987	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:111098987G>A	ENST00000356742.5	-	3	1041	c.288C>T	c.(286-288)ttC>ttT	p.F96F	HVCN1_ENST00000242607.8_Silent_p.F96F|HVCN1_ENST00000548312.1_Silent_p.F96F|HVCN1_ENST00000439744.2_Silent_p.F76F			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	96					cellular response to pH (GO:0071467)|cellular response to zinc ion (GO:0071294)|multicellular organism reproduction (GO:0032504)|proton transport (GO:0015992)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	voltage-gated cation channel activity (GO:0022843)|voltage-gated proton channel activity (GO:0030171)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						TGTGGGAGCTGAACAGTTTCC	0.667																																						ENST00000356742.5																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						c.(286-288)ttC>ttT		hydrogen voltage-gated channel 1							55.0	60.0	58.0					12																	111098987		2203	4300	6503	SO:0001819	synonymous_variant	84329				response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity	g.chr12:111098987G>A	BC007277	CCDS31900.1, CCDS58278.1	12q24.11	2011-12-09	2006-03-24	2006-03-24	ENSG00000122986	ENSG00000122986		"""Voltage-gated ion channels / Hydrogen voltage-gated channel"""	28240	protein-coding gene	gene with protein product	"""voltage sensor domain-only protein"""	611227				20961760, 16556803, 18356202, 22020278	Standard	NM_032369		Approved	MGC15619, Hv1, VSOP	uc001trs.2	Q96D96		ENST00000356742.5:c.288C>T	12.37:g.111098987G>A						HVCN1_ENST00000548312.1_Silent_p.F96F|HVCN1_ENST00000439744.2_Silent_p.F76F|HVCN1_ENST00000242607.8_Silent_p.F96F	p.F96F			Q96D96	HVCN1_HUMAN			3	1041	-			96					A8MQ37|B4DEB3|F8WCH5|Q6UW11|Q96IS5	Silent	SNP	ENST00000356742.5	37	c.288C>T	CCDS31900.1																																																																																				0.667	HVCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404653.1	NM_032369		46	124	0	0	0	1	0	46	124				
NCOA5	57727	broad.mit.edu	37	20	44697275	44697275	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr20:44697275C>T	ENST00000290231.6	-	4	532	c.368G>A	c.(367-369)aGa>aAa	p.R123K		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	123	Arg/Asp-rich (mixed charge).|Transcription repression.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				AGAGCCTTCTCTCCTGAAAAG	0.383																																						ENST00000290231.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(367-369)aGa>aAa		nuclear receptor coactivator 5							91.0	93.0	92.0					20																	44697275		2203	4300	6503	SO:0001583	missense	57727				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding	g.chr20:44697275C>T		CCDS13392.1	20q12-q13.12	2008-07-02			ENSG00000124160	ENSG00000124160			15909	protein-coding gene	gene with protein product	"""coactivator independent of AF-2"""					11780052, 11113208	Standard	XM_005260474		Approved	bA465L10.6, CIA	uc002xre.3	Q9HCD5	OTTHUMG00000032639	ENST00000290231.6:c.368G>A	20.37:g.44697275C>T	ENSP00000290231:p.Arg123Lys						p.R123K	NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN			4	532	-		Myeloproliferative disorder(115;0.0122)	123			Arg/Asp-rich (mixed charge).|Transcription repression.		B2RTV9|E1P5R0|Q6HA99|Q9H1F2|Q9H2T2|Q9H4Y9	Missense_Mutation	SNP	ENST00000290231.6	37	c.368G>A	CCDS13392.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.387868	0.61956	.	.	ENSG00000124160	ENST00000290231;ENST00000372291	T	0.51817	0.69	4.75	4.75	0.60458	.	0.101169	0.64402	D	0.000002	T	0.46386	0.1390	L	0.51422	1.61	0.33063	D	0.53439	P;B	0.45715	0.865;0.307	B;B	0.42112	0.376;0.036	T	0.62520	-0.6837	10	0.48119	T	0.1	0.0048	16.5208	0.84315	0.0:1.0:0.0:0.0	.	123;18	Q9HCD5;Q5JY17	NCOA5_HUMAN;.	K	123;18	ENSP00000290231:R123K	ENSP00000290231:R123K	R	-	2	0	NCOA5	44130682	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.495000	0.73665	2.475000	0.83589	0.650000	0.86243	AGA		0.383	NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079559.1	NM_020967		6	81	0	0	0	1	0	6	81				
NSD1	64324	broad.mit.edu	37	5	176710792	176710792	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr5:176710792G>A	ENST00000439151.2	+	20	6059	c.6014G>A	c.(6013-6015)cGa>cAa	p.R2005Q	NSD1_ENST00000354179.4_Missense_Mutation_p.R1736Q|NSD1_ENST00000361032.4_Missense_Mutation_p.R1902Q|NSD1_ENST00000347982.4_Missense_Mutation_p.R1736Q	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2005	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.		R -> Q (in SOTOS1; strongly reduced enzyme activity). {ECO:0000269|PubMed:12464997}.		gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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)|Epithelial(233;0.198)	Kidney(146;0.235)		TTCTAGGACCGAATCATTGAT	0.418			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	GRCh37	CM030080	NSD1	M		c.(6013-6015)cGa>cAa		nuclear receptor binding SET domain protein 1							105.0	101.0	103.0					5																	176710792		2203	4300	6503	SO:0001583	missense	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176710792G>A	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.6014G>A	5.37:g.176710792G>A	ENSP00000395929:p.Arg2005Gln	HNSCC(47;0.14)				NSD1_ENST00000361032.4_Missense_Mutation_p.R1902Q|NSD1_ENST00000354179.4_Missense_Mutation_p.R1736Q|NSD1_ENST00000347982.4_Missense_Mutation_p.R1736Q	p.R2005Q	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	20	6059	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	2005		R -> Q (in SOTOSS; strongly reduced enzyme activity).	SET.		Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.6014G>A	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	36	5.761185	0.96906	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48	5.42	5.42	0.78866	SET domain (3);	0.000000	0.51477	D	0.000085	D	0.94305	0.8170	M	0.72624	2.21	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.94447	0.7664	10	0.87932	D	0	.	19.5951	0.95533	0.0:0.0:1.0:0.0	.	1736;2005	Q96L73-2;Q96L73	.;NSD1_HUMAN	Q	1736;2005;1736;1902	ENSP00000346111:R1736Q;ENSP00000395929:R2005Q;ENSP00000343209:R1736Q;ENSP00000354310:R1902Q	ENSP00000343209:R1736Q	R	+	2	0	NSD1	176643398	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.814000	0.99346	2.705000	0.92388	0.591000	0.81541	CGA		0.418	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		38	27	0	0	0	1	0	38	27				
DHDDS	79947	broad.mit.edu	37	1	26769239	26769239	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:26769239G>C	ENST00000236342.7	+	4	291	c.198G>C	c.(196-198)ttG>ttC	p.L66F	DHDDS_ENST00000531955.1_3'UTR|DHDDS_ENST00000360009.2_Missense_Mutation_p.L66F|DHDDS_ENST00000374185.3_Missense_Mutation_p.L66F|DHDDS_ENST00000427245.2_Missense_Mutation_p.L66F|DHDDS_ENST00000526219.1_Missense_Mutation_p.L66F|DHDDS_ENST00000525682.2_Missense_Mutation_p.L66F			Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase	66					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	transferase activity, transferring alkyl or aryl (other than methyl) groups (GO:0016765)			breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	15		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)		GGTGGTGTTTGAACCTGGGCA	0.512																																						ENST00000360009.2																			0				breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	15						c.(196-198)ttG>ttC		dehydrodolichyl diphosphate synthase							158.0	152.0	154.0					1																	26769239		2203	4300	6503	SO:0001583	missense	79947						protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups	g.chr1:26769239G>C	AK023164	CCDS281.1, CCDS282.1, CCDS57984.1, CCDS57983.1	1p35.3	2014-01-28			ENSG00000117682	ENSG00000117682			20603	protein-coding gene	gene with protein product		608172				12591616	Standard	NM_024887		Approved	HDS, FLJ13102, DS, RP59	uc001bmk.3	Q86SQ9	OTTHUMG00000003554	ENST00000236342.7:c.198G>C	1.37:g.26769239G>C	ENSP00000236342:p.Leu66Phe					DHDDS_ENST00000427245.2_Missense_Mutation_p.L66F|DHDDS_ENST00000526219.1_Missense_Mutation_p.L66F|DHDDS_ENST00000525682.2_Missense_Mutation_p.L66F|DHDDS_ENST00000236342.7_Missense_Mutation_p.L66F|DHDDS_ENST00000374185.3_Missense_Mutation_p.L66F|DHDDS_ENST00000531955.1_3'UTR	p.L66F	NM_024887.3|NM_205861.2	NP_079163.2|NP_995583.1	Q86SQ9	DHDDS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)	4	275	+		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	66					B7Z4B9|B7ZB20|D3DPK7|D3DPK8|D3DPK9|E9KL43|Q5T0A4|Q8NE90|Q9BTG5|Q9BTK3|Q9H905	Missense_Mutation	SNP	ENST00000236342.7	37	c.198G>C	CCDS282.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.656422	0.67586	.	.	ENSG00000117682	ENST00000374190;ENST00000427245;ENST00000525682;ENST00000236342;ENST00000526219;ENST00000374185;ENST00000360009;ENST00000533087;ENST00000531312;ENST00000525165;ENST00000525326;ENST00000525546;ENST00000436153;ENST00000430232	T;T;T;T;T;T;T;T;T;T;T;T	0.56444	0.46;0.46;0.46;0.46;0.46;0.46;0.46;0.46;0.46;0.46;0.46;0.46	5.92	5.01	0.66863	.	0.255981	0.39834	N	0.001254	T	0.57799	0.2078	L	0.49571	1.57	0.51012	D	0.999904	P;D;B;B	0.62365	0.526;0.991;0.018;0.014	B;P;B;B	0.62560	0.178;0.904;0.081;0.049	T	0.55451	-0.8139	10	0.10902	T	0.67	-20.512	9.4285	0.38595	0.2188:0.0:0.7812:0.0	.	66;66;66;66	B7Z4B9;Q86SQ9-3;Q86SQ9;Q86SQ9-2	.;.;DHDDS_HUMAN;.	F	34;66;66;66;66;66;66;66;66;66;66;66;66;66	ENSP00000399177:L66F;ENSP00000434984:L66F;ENSP00000236342:L66F;ENSP00000434219:L66F;ENSP00000363300:L66F;ENSP00000353104:L66F;ENSP00000436119:L66F;ENSP00000436764:L66F;ENSP00000434185:L66F;ENSP00000431407:L66F;ENSP00000433976:L66F;ENSP00000397584:L66F	ENSP00000236342:L66F	L	+	3	2	DHDDS	26641826	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.217000	0.42880	1.513000	0.48852	0.655000	0.94253	TTG		0.512	DHDDS-011	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392504.1	NM_024887		17	179	0	0	0	1	0	17	179				
NELL1	4745	broad.mit.edu	37	11	21556037	21556037	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:21556037C>T	ENST00000357134.5	+	16	1915	c.1763C>T	c.(1762-1764)tCa>tTa	p.S588L	NELL1_ENST00000325319.5_Missense_Mutation_p.S531L|NELL1_ENST00000532434.1_Intron|NELL1_ENST00000298925.5_Missense_Mutation_p.S616L|NELL1_ENST00000529218.1_3'UTR	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	588					cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GGGACCTATTCACTGTCCGGG	0.542																																						ENST00000298925.5																			0				NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						c.(1846-1848)tCa>tTa		NEL-like 1 (chicken)							173.0	142.0	153.0					11																	21556037		2203	4300	6503	SO:0001583	missense	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:21556037C>T	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.1763C>T	11.37:g.21556037C>T	ENSP00000349654:p.Ser588Leu					NELL1_ENST00000532434.1_Intron|NELL1_ENST00000357134.5_Missense_Mutation_p.S588L|NELL1_ENST00000325319.5_Missense_Mutation_p.S531L|NELL1_ENST00000529218.1_3'UTR	p.S616L			Q92832	NELL1_HUMAN			17	2000	+			588			EGF-like 6; calcium-binding (Potential).		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	37	c.1847C>T	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.243448	0.58995	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319	T;T;T	0.80393	-1.37;-1.33;-1.25	5.74	5.74	0.90152	EGF-like calcium-binding (1);	0.127673	0.36519	N	0.002548	T	0.71888	0.3393	N	0.16602	0.42	0.39498	D	0.968159	B;B;B	0.22541	0.058;0.034;0.071	B;B;B	0.22152	0.022;0.01;0.038	T	0.67902	-0.5550	10	0.51188	T	0.08	-10.3152	19.9077	0.97014	0.0:1.0:0.0:0.0	.	531;616;588	F5H6I3;B3KXR2;Q92832	.;.;NELL1_HUMAN	L	616;588;531	ENSP00000298925:S616L;ENSP00000349654:S588L;ENSP00000317837:S531L	ENSP00000298925:S616L	S	+	2	0	NELL1	21512613	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.290000	0.51755	2.714000	0.92807	0.585000	0.79938	TCA		0.542	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		37	60	0	0	0	1	0	37	60				
KANTR	102723508	broad.mit.edu	37	X	53172528	53172528	+	lincRNA	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chrX:53172528G>A	ENST00000604849.1	+	0	1091				AL139396.1_ENST00000578198.1_RNA																							GGATCTTCATGAGGTAGTTGG	0.592																																						ENST00000604849.1																			0																																																			102723508							g.chrX:53172528G>A																													X.37:g.53172528G>A														0	1091	+									RNA	SNP	ENST00000604849.1	37																																																																																						0.592	RP11-258C19.5-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000468382.1			25	3	0	0	0	1	0	25	3				
DST	667	broad.mit.edu	37	6	56347540	56347540	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:56347540C>G	ENST00000361203.3	-	84	20390	c.20383G>C	c.(20383-20385)Gag>Cag	p.E6795Q	DST_ENST00000370788.2_Missense_Mutation_p.E4709Q|DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Missense_Mutation_p.E6906Q|DST_ENST00000370754.5_Missense_Mutation_p.E7084Q|DST_ENST00000446842.2_Missense_Mutation_p.E6580Q|DST_ENST00000421834.2_Missense_Mutation_p.E4818Q|DST_ENST00000244364.6_Missense_Mutation_p.E4492Q			Q03001	DYST_HUMAN	dystonin	6796					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CACACGGTCTCCCAGCGTGTG	0.517																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(21250-21252)Gag>Cag		dystonin							88.0	85.0	86.0					6																	56347540		1933	4145	6078	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56347540C>G	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.20383G>C	6.37:g.56347540C>G	ENSP00000354508:p.Glu6795Gln					DST_ENST00000361203.3_Missense_Mutation_p.E6795Q|DST_ENST00000421834.2_Missense_Mutation_p.E4818Q|DST_ENST00000244364.6_Missense_Mutation_p.E4492Q|DST_ENST00000446842.2_Missense_Mutation_p.E6580Q|DST_ENST00000370788.2_Missense_Mutation_p.E4709Q|DST_ENST00000370769.4_Missense_Mutation_p.E6906Q|DST_ENST00000312431.6_3'UTR	p.E7084Q			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		89	21249	-	Lung NSC(77;0.103)		6904					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.21250G>C		.	.	.	.	.	.	.	.	.	.	C	24.3	4.518889	0.85495	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25;1.25;1.25	5.76	5.76	0.90799	.	0.000000	0.56097	D	0.000039	T	0.52725	0.1752	M	0.65975	2.015	0.30798	N	0.740163	D;D;D;D;D	0.89917	0.98;1.0;0.999;0.983;0.987	P;D;D;P;P	0.79108	0.893;0.992;0.968;0.812;0.886	T	0.29731	-1.0002	9	0.31617	T	0.26	.	20.3431	0.98773	0.0:1.0:0.0:0.0	.	4818;6906;7084;6904;4492	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	Q	4492;7084;6906;4818;6580;4709;6795	ENSP00000244364:E4492Q;ENSP00000359790:E7084Q;ENSP00000359805:E6906Q;ENSP00000400883:E4818Q;ENSP00000393645:E6580Q;ENSP00000359824:E4709Q;ENSP00000354508:E6795Q	ENSP00000244364:E4492Q	E	-	1	0	DST	56455499	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.750000	0.85110	2.880000	0.98712	0.650000	0.86243	GAG		0.517	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		40	62	0	0	0	1	0	40	62				
MAP3K13	9175	broad.mit.edu	37	3	185183641	185183641	+	Nonsense_Mutation	SNP	G	G	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:185183641G>T	ENST00000265026.3	+	9	1829	c.1495G>T	c.(1495-1497)Gag>Tag	p.E499*	MAP3K13_ENST00000535426.1_Nonsense_Mutation_p.E355*|MAP3K13_ENST00000443863.1_Nonsense_Mutation_p.E355*|MAP3K13_ENST00000446828.1_Nonsense_Mutation_p.E292*|MAP3K13_ENST00000424227.1_Nonsense_Mutation_p.E499*	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13											NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GCGGGAGAAGGAGCTCATTAA	0.438																																						ENST00000265026.3																			0				NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(1495-1497)Gag>Tag		mitogen-activated protein kinase kinase kinase 13							101.0	101.0	101.0					3																	185183641		2203	4300	6503	SO:0001587	stop_gained	9175				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr3:185183641G>T	BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.1495G>T	3.37:g.185183641G>T	ENSP00000265026:p.Glu499*					MAP3K13_ENST00000535426.1_Nonsense_Mutation_p.E355*|MAP3K13_ENST00000424227.1_Nonsense_Mutation_p.E499*|MAP3K13_ENST00000446828.1_Nonsense_Mutation_p.E292*|MAP3K13_ENST00000443863.1_Nonsense_Mutation_p.E355*	p.E499*	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		9	1829	+	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		499			Leucine-zipper 2.			Nonsense_Mutation	SNP	ENST00000265026.3	37	c.1495G>T	CCDS3270.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.049199	0.75846	.	.	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026;ENST00000420577	.	.	.	4.97	4.97	0.65823	.	0.060063	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	18.2585	0.90025	0.0:0.0:1.0:0.0	.	.	.	.	X	292;499;355;355;499;244	.	ENSP00000265026:E499X	E	+	1	0	MAP3K13	186666335	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.771000	0.98977	2.309000	0.77851	0.655000	0.94253	GAG		0.438	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721		5	157	1	0	0.014758	1	0.0147838	5	157				
VRTN	55237	broad.mit.edu	37	14	74824856	74824856	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr14:74824856C>T	ENST00000256362.4	+	2	1611	c.1370C>T	c.(1369-1371)tCt>tTt	p.S457F		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	457					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CCAGCCCTCTCTGCTGCTGGG	0.592																																						ENST00000256362.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(1369-1371)tCt>tTt		vertebrae development associated							36.0	39.0	38.0					14																	74824856		2202	4300	6502	SO:0001583	missense	55237				transposition, DNA-mediated		DNA binding|transposase activity	g.chr14:74824856C>T	AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 115"", ""vertebrae development homolog (pig)"""	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.1370C>T	14.37:g.74824856C>T	ENSP00000256362:p.Ser457Phe						p.S457F	NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN			2	1611	+			457					Q9NVC7	Missense_Mutation	SNP	ENST00000256362.4	37	c.1370C>T	CCDS9830.1	.	.	.	.	.	.	.	.	.	.	C	9.930	1.214656	0.22289	.	.	ENSG00000133980	ENST00000256362	T	0.50001	0.76	4.27	-1.2	0.09554	.	2.047540	0.02845	N	0.128444	T	0.29223	0.0727	N	0.19112	0.55	0.09310	N	1	B	0.26318	0.146	B	0.21917	0.037	T	0.14504	-1.0470	10	0.62326	D	0.03	-3.4417	0.1633	0.00105	0.2655:0.2063:0.2613:0.2669	.	457	Q9H8Y1	VRTN_HUMAN	F	457	ENSP00000256362:S457F	ENSP00000256362:S457F	S	+	2	0	VRTN	73894609	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.173000	0.09854	-0.493000	0.06678	0.491000	0.48974	TCT		0.592	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228		42	70	0	0	0	1	0	42	70				
HIVEP1	3096	broad.mit.edu	37	6	12122536	12122536	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:12122536C>T	ENST00000379388.2	+	4	2840	c.2508C>T	c.(2506-2508)atC>atT	p.I836I		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	836					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GTTTACCTATCACAAGAAGTA	0.413																																						ENST00000379388.2																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90						c.(2506-2508)atC>atT		human immunodeficiency virus type I enhancer binding protein 1							149.0	138.0	141.0					6																	12122536		1895	4125	6020	SO:0001819	synonymous_variant	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12122536C>T	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.2508C>T	6.37:g.12122536C>T							p.I836I	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN			4	2840	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	836					B2RTU3|Q14122|Q5MPB1|Q5VW60	Silent	SNP	ENST00000379388.2	37	c.2508C>T	CCDS43426.1																																																																																				0.413	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		56	91	0	0	0	1	0	56	91				
MYO15A	51168	broad.mit.edu	37	17	18061115	18061115	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr17:18061115C>T	ENST00000205890.5	+	51	9206	c.8868C>T	c.(8866-8868)ttC>ttT	p.F2956F	MYO15A_ENST00000451725.2_5'Flank|MYO15A_ENST00000418233.3_Silent_p.F220F	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2956	Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCCCCGACTTCCTGCAGCTGC	0.716																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(8866-8868)ttC>ttT		myosin XVA							14.0	16.0	15.0					17																	18061115		1839	4042	5881	SO:0001819	synonymous_variant	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18061115C>T	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.8868C>T	17.37:g.18061115C>T						MYO15A_ENST00000418233.3_Silent_p.F220F	p.F2956F	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			51	9206	+	all_neural(463;0.228)		2956			Tail.		B4DFC7	Silent	SNP	ENST00000205890.5	37	c.8868C>T	CCDS42271.1																																																																																				0.716	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		20	39	0	0	0	1	0	20	39				
SLC6A10P	386757	broad.mit.edu	37	16	32890622	32890622	+	RNA	SNP	T	T	G	rs200656321		TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:32890622T>G	ENST00000330048.5	-	0	3176					NR_003083.2				solute carrier family 6 (neurotransmitter transporter), member 10, pseudogene																		CGTTGGTGTTTTTGTAGACCA	0.617																																						ENST00000330048.5																			0																																																			386757							g.chr16:32890622T>G	U41163		16p11.2	2013-07-19	2013-07-19	2013-07-19	ENSG00000214617	ENSG00000214617		"""Solute carriers"""	11043	pseudogene	pseudogene	"""creatine transporter-2"""		"""solute carrier family 6 (neurotransmitter transporter, creatine), member 10"""	SLC6A10		9154116	Standard	NR_003083		Approved	CT-2	uc002edh.1		OTTHUMG00000132481		16.37:g.32890622T>G								NR_003083.2						0	3176	-									RNA	SNP	ENST00000330048.5	37																																																																																						0.617	SLC6A10P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432081.2			3	25	0	0	0	1	0	3	25				
FAM217A	222826	broad.mit.edu	37	6	4073712	4073712	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:4073712C>T	ENST00000274673.3	-	5	592	c.189G>A	c.(187-189)ctG>ctA	p.L63L	FAM217A_ENST00000380188.2_5'UTR|snoU13_ENST00000516859.1_RNA	NM_173563.2	NP_775834.2	Q8IXS0	F217A_HUMAN	family with sequence similarity 217, member A	63																	GTTCTAGCATCAGTTGCTCCA	0.318																																						ENST00000274673.3																			0											c.(187-189)ctG>ctA		family with sequence similarity 217, member A							79.0	80.0	80.0					6																	4073712		2203	4299	6502	SO:0001819	synonymous_variant	222826							g.chr6:4073712C>T	BC039349	CCDS4489.1	6p25.1	2012-02-07	2012-02-07	2012-02-07	ENSG00000145975	ENSG00000145975			21362	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 146"""	C6orf146			Standard	NM_173563		Approved	MGC43581	uc003mvx.3	Q8IXS0	OTTHUMG00000014159	ENST00000274673.3:c.189G>A	6.37:g.4073712C>T						FAM217A_ENST00000380188.2_5'UTR	p.L63L	NM_173563.2	NP_775834.2	Q8IXS0	CF146_HUMAN			5	592	-			63					Q5JYK1	Silent	SNP	ENST00000274673.3	37	c.189G>A	CCDS4489.1																																																																																				0.318	FAM217A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352577.2	NM_173563		21	37	0	0	0	1	0	21	37				
IPO4	79711	broad.mit.edu	37	14	24649654	24649654	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr14:24649654G>A	ENST00000354464.6	-	30	3416	c.3240C>T	c.(3238-3240)ctC>ctT	p.L1080L	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	1080					DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		CAGTCTAGGAGAGGCCCAGTA	0.567																																						ENST00000354464.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33						c.(3238-3240)ctC>ctT		importin 4							31.0	34.0	33.0					14																	24649654		2001	4151	6152	SO:0001819	synonymous_variant	79711				intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr14:24649654G>A	AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"""Importins"""	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801	ENST00000354464.6:c.3240C>T	14.37:g.24649654G>A						RP11-468E2.2_ENST00000561419.1_3'UTR	p.L1080L	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN		GBM - Glioblastoma multiforme(265;0.0087)	30	3416	-			1080					B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Silent	SNP	ENST00000354464.6	37	c.3240C>T	CCDS9616.1																																																																																				0.567	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4	NM_024658		15	22	0	0	0	1	0	15	22				
OIT3	170392	broad.mit.edu	37	10	74673202	74673202	+	Silent	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr10:74673202C>G	ENST00000334011.5	+	6	1145	c.927C>G	c.(925-927)ctC>ctG	p.L309L		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	309	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					TCTTCTCTCTCAAGACATGTG	0.562																																					Colon(7;19 345 13446 17537)	ENST00000334011.5																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35						c.(925-927)ctC>ctG		oncoprotein induced transcript 3							123.0	101.0	109.0					10																	74673202		2203	4300	6503	SO:0001819	synonymous_variant	170392					nuclear envelope	calcium ion binding	g.chr10:74673202C>G		CCDS7318.1	10q22.2-q22.3	2004-04-21			ENSG00000138315	ENSG00000138315			29953	protein-coding gene	gene with protein product		609330				12975309, 12939600	Standard	NM_152635		Approved	LZP, FLJ39116	uc001jte.1	Q8WWZ8	OTTHUMG00000018444	ENST00000334011.5:c.927C>G	10.37:g.74673202C>G							p.L309L	NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN			6	1145	+	Prostate(51;0.0198)		309			ZP.		A0AVP3|Q8N1M8	Silent	SNP	ENST00000334011.5	37	c.927C>G	CCDS7318.1																																																																																				0.562	OIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048596.1	NM_152635		6	119	0	0	0	1	0	6	119				
NCSTN	23385	broad.mit.edu	37	1	160326073	160326073	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:160326073C>G	ENST00000294785.5	+	14	1700	c.1575C>G	c.(1573-1575)ttC>ttG	p.F525L	NCSTN_ENST00000535857.1_Missense_Mutation_p.F387L|NCSTN_ENST00000392212.4_Missense_Mutation_p.F505L|NCSTN_ENST00000368063.1_Missense_Mutation_p.F505L|NCSTN_ENST00000368065.4_Missense_Mutation_p.F267L|NCSTN_ENST00000459963.1_3'UTR	NM_015331.2	NP_056146.1	Q92542	NICA_HUMAN	nicastrin	525					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)|proteolysis (GO:0006508)|T cell proliferation (GO:0042098)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCTATGGGTTCCTGATTAAAG	0.498																																						ENST00000368063.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34						c.(1513-1515)ttC>ttG		nicastrin							115.0	107.0	110.0					1																	160326073		2203	4300	6503	SO:0001583	missense	23385				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding	g.chr1:160326073C>G	AF240468	CCDS1203.1	1q22-q23	2014-09-17			ENSG00000162736	ENSG00000162736			17091	protein-coding gene	gene with protein product		605254				9039502, 10993067	Standard	XM_005245053		Approved	KIAA0253, APH2	uc001fvx.3	Q92542	OTTHUMG00000033110	ENST00000294785.5:c.1575C>G	1.37:g.160326073C>G	ENSP00000294785:p.Phe525Leu					NCSTN_ENST00000459963.1_3'UTR|NCSTN_ENST00000392212.4_Missense_Mutation_p.F505L|NCSTN_ENST00000368065.4_Missense_Mutation_p.F267L|NCSTN_ENST00000535857.1_Missense_Mutation_p.F387L|NCSTN_ENST00000294785.5_Missense_Mutation_p.F525L	p.F505L			Q92542	NICA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		15	1795	+	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		525					Q5T207|Q5T208|Q86VV5	Missense_Mutation	SNP	ENST00000294785.5	37	c.1515C>G	CCDS1203.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.80|17.80	3.477263|3.477263	0.63849|0.63849	.|.	.|.	ENSG00000162736|ENSG00000162736	ENST00000294785;ENST00000368063;ENST00000535857;ENST00000368067;ENST00000392212;ENST00000368065|ENST00000435149	T;T;T;T|.	0.80909|.	-1.43;-1.43;-0.42;-1.43|.	5.55|5.55	2.45|2.45	0.29901|0.29901	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61211|0.61211	0.2329|0.2329	M|M	0.83953|0.83953	2.67|2.67	0.58432|0.58432	D|D	0.999993|0.999993	D;D;D|.	0.62365|.	0.991;0.991;0.985|.	P;P;P|.	0.62435|.	0.902;0.894;0.729|.	T|T	0.61676|0.61676	-0.7014|-0.7014	10|5	0.12430|.	T|.	0.62|.	-23.529|-23.529	7.7523|7.7523	0.28904|0.28904	0.0:0.5364:0.0:0.4636|0.0:0.5364:0.0:0.4636	.|.	387;505;525|.	F6Y097;Q92542-2;Q92542|.	.;.;NICA_HUMAN|.	L|C	525;505;387;232;505;267|202	ENSP00000294785:F525L;ENSP00000357042:F505L;ENSP00000442605:F387L;ENSP00000376047:F505L|.	ENSP00000294785:F525L|.	F|S	+|+	3|2	2|0	NCSTN|NCSTN	158592697|158592697	0.985000|0.985000	0.35326|0.35326	1.000000|1.000000	0.80357|0.80357	0.767000|0.767000	0.43475|0.43475	0.134000|0.134000	0.15932|0.15932	0.210000|0.210000	0.20664|0.20664	-1.000000|-1.000000	0.02509|0.02509	TTC|TCC		0.498	NCSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080622.1	NM_015331		21	37	0	0	0	1	0	21	37				
SRRM2	23524	broad.mit.edu	37	16	2814810	2814810	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:2814810G>A	ENST00000301740.8	+	11	4830	c.4281G>A	c.(4279-4281)atG>atA	p.M1427I		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1427	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CTCCTGAAATGAAAGATGGTT	0.502																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(4279-4281)atG>atA		serine/arginine repetitive matrix 2							134.0	132.0	133.0					16																	2814810		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2814810G>A	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.4281G>A	16.37:g.2814810G>A	ENSP00000301740:p.Met1427Ile						p.M1427I	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			11	4830	+			1427			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.4281G>A	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	7.975	0.749947	0.15778	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.20881	2.04	6.17	3.01	0.34805	.	0.391146	0.21884	N	0.067681	T	0.09949	0.0244	N	0.14661	0.345	0.20926	N	0.999829	B	0.09022	0.002	B	0.04013	0.001	T	0.24657	-1.0154	10	0.25751	T	0.34	0.0	4.8399	0.13485	0.2108:0.2273:0.5618:0.0	.	1427	Q9UQ35	SRRM2_HUMAN	I	1427;1427;679	ENSP00000301740:M1427I	ENSP00000301740:M1427I	M	+	3	0	SRRM2	2754811	0.950000	0.32346	1.000000	0.80357	0.996000	0.88848	0.921000	0.28718	0.878000	0.35920	0.655000	0.94253	ATG		0.502	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			16	222	0	0	0	1	0	16	222				
ADAMTSL4	54507	broad.mit.edu	37	1	150528772	150528772	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:150528772G>A	ENST00000369038.2	+	7	1707	c.1506G>A	c.(1504-1506)aaG>aaA	p.K502K	ADAMTSL4_ENST00000271643.4_Silent_p.K502K|ADAMTSL4_ENST00000369041.5_Silent_p.K502K|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369039.5_Silent_p.K525K			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	502					apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCTATCAGAAGATCTTGTGGA	0.617																																						ENST00000271643.4																			0				breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32						c.(1504-1506)aaG>aaA		ADAMTS-like 4							56.0	64.0	61.0					1																	150528772		2203	4300	6503	SO:0001819	synonymous_variant	54507				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	g.chr1:150528772G>A	BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.1506G>A	1.37:g.150528772G>A						ADAMTSL4_ENST00000369041.5_Silent_p.K502K|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369038.2_Silent_p.K502K|ADAMTSL4_ENST00000369039.5_Silent_p.K525K	p.K502K	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		9	1742	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		502					B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Silent	SNP	ENST00000369038.2	37	c.1506G>A	CCDS955.1	.	.	.	.	.	.	.	.	.	.	G	7.059	0.565958	0.13560	.	.	ENSG00000143382	ENST00000407995	.	.	.	4.72	2.84	0.33178	.	.	.	.	.	T	0.40347	0.1113	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27739	-1.0065	4	.	.	.	.	6.6872	0.23152	0.2905:0.0:0.7095:0.0	.	.	.	.	K	41	.	.	R	+	2	0	ADAMTSL4	148795396	1.000000	0.71417	1.000000	0.80357	0.701000	0.40568	1.788000	0.38714	0.596000	0.29794	0.462000	0.41574	AGA		0.617	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032		14	158	0	0	0	1	0	14	158				
CTSF	8722	broad.mit.edu	37	11	66332090	66332090	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:66332090G>A	ENST00000310325.5	-	11	1369	c.1260C>T	c.(1258-1260)ctC>ctT	p.L420L	ACTN3_ENST00000513398.1_RNA|ACTN3_ENST00000502692.1_RNA|CTSF_ENST00000533168.1_5'Flank	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	420					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						AGAGGGGCCGGAGAGGGCGGG	0.622																																						ENST00000310325.5																			0				endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(1258-1260)ctC>ctT		cathepsin F							23.0	26.0	25.0					11																	66332090		2198	4293	6491	SO:0001819	synonymous_variant	8722				proteolysis	lysosome	cysteine-type endopeptidase activity	g.chr11:66332090G>A	AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"""Cathepsins"""	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090	ENST00000310325.5:c.1260C>T	11.37:g.66332090G>A							p.L420L	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN			11	1369	-			420					B2R964|O95240|Q9NSU4|Q9UKQ5	Silent	SNP	ENST00000310325.5	37	c.1260C>T	CCDS8144.1	.	.	.	.	.	.	.	.	.	.	G	9.618	1.133124	0.21041	.	.	ENSG00000174080	ENST00000524994	.	.	.	4.32	-0.00267	0.14029	.	.	.	.	.	T	0.44222	0.1283	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23904	-1.0175	4	.	.	.	.	3.9325	0.09292	0.1001:0.3554:0.4157:0.1288	.	.	.	.	S	268	.	.	P	-	1	0	CTSF	66088666	0.913000	0.31002	0.972000	0.41901	0.964000	0.63967	0.076000	0.14712	0.088000	0.17205	0.462000	0.41574	CCG		0.622	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393047.1	NM_003793		6	26	0	0	0	1	0	6	26				
HVCN1	84329	broad.mit.edu	37	12	111098971	111098971	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:111098971G>A	ENST00000356742.5	-	3	1057	c.304C>T	c.(304-306)Cag>Tag	p.Q102*	HVCN1_ENST00000242607.8_Nonsense_Mutation_p.Q102*|HVCN1_ENST00000548312.1_Nonsense_Mutation_p.Q102*|HVCN1_ENST00000439744.2_Nonsense_Mutation_p.Q82*			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	102					cellular response to pH (GO:0071467)|cellular response to zinc ion (GO:0071294)|multicellular organism reproduction (GO:0032504)|proton transport (GO:0015992)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	voltage-gated cation channel activity (GO:0022843)|voltage-gated proton channel activity (GO:0030171)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						CCACCTACCTGAAACCTGTGG	0.657																																						ENST00000356742.5																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						c.(304-306)Cag>Tag		hydrogen voltage-gated channel 1							53.0	58.0	56.0					12																	111098971		2202	4298	6500	SO:0001587	stop_gained	84329				response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity	g.chr12:111098971G>A	BC007277	CCDS31900.1, CCDS58278.1	12q24.11	2011-12-09	2006-03-24	2006-03-24	ENSG00000122986	ENSG00000122986		"""Voltage-gated ion channels / Hydrogen voltage-gated channel"""	28240	protein-coding gene	gene with protein product	"""voltage sensor domain-only protein"""	611227				20961760, 16556803, 18356202, 22020278	Standard	NM_032369		Approved	MGC15619, Hv1, VSOP	uc001trs.2	Q96D96		ENST00000356742.5:c.304C>T	12.37:g.111098971G>A	ENSP00000349181:p.Gln102*					HVCN1_ENST00000548312.1_Nonsense_Mutation_p.Q102*|HVCN1_ENST00000439744.2_Nonsense_Mutation_p.Q82*|HVCN1_ENST00000242607.8_Nonsense_Mutation_p.Q102*	p.Q102*			Q96D96	HVCN1_HUMAN			3	1057	-			102					A8MQ37|B4DEB3|F8WCH5|Q6UW11|Q96IS5	Nonsense_Mutation	SNP	ENST00000356742.5	37	c.304C>T	CCDS31900.1	.	.	.	.	.	.	.	.	.	.	g	22.3	4.276550	0.80580	.	.	ENSG00000122986	ENST00000548312;ENST00000242607;ENST00000356742;ENST00000439744	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-52.532	19.3988	0.94619	0.0:0.0:1.0:0.0	.	.	.	.	X	102;102;102;82	.	ENSP00000242607:Q102X	Q	-	1	0	HVCN1	109583354	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	7.897000	0.87356	2.822000	0.97130	0.558000	0.71614	CAG		0.657	HVCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404653.1	NM_032369		45	132	0	0	0	1	0	45	132				
TRBV6-4	28603	broad.mit.edu	37	7	142250855	142250855	+	RNA	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr7:142250855G>A	ENST00000390360.3	-	0	212									T cell receptor beta variable 6-4																		AATAATGGATGAGCCTTAGCC	0.483																																						ENST00000390360.3																			0																				128.0	122.0	124.0					7																	142250855		1970	4164	6134			28603							g.chr7:142250855G>A	X61653		7q34	2012-02-07			ENSG00000211713	ENSG00000211713		"""T cell receptors / TRB locus"""	12229	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV64, TCRBV13S5, TCRBV6S4			OTTHUMG00000158533		7.37:g.142250855G>A														0	212	-									RNA	SNP	ENST00000390360.3	37																																																																																						0.483	TRBV6-4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351239.2	NG_001333		29	42	0	0	0	1	0	29	42				
FBXW7	55294	broad.mit.edu	37	4	153247366	153247366	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:153247366C>T	ENST00000281708.4	-	10	2665	c.1436G>A	c.(1435-1437)cGa>cAa	p.R479Q	FBXW7_ENST00000263981.5_Missense_Mutation_p.R399Q|FBXW7_ENST00000393956.3_Missense_Mutation_p.R303Q|FBXW7_ENST00000603548.1_Missense_Mutation_p.R479Q|FBXW7_ENST00000603841.1_Missense_Mutation_p.R479Q|FBXW7_ENST00000296555.5_Missense_Mutation_p.R361Q	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	479					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R479Q(29)|p.R479L(5)|p.R399Q(3)|p.R479P(2)|p.R240L(1)|p.R361P(1)|p.R399P(1)|p.?(1)|p.R361Q(1)|p.R399L(1)|p.R240Q(1)|p.R240P(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AGTGGCATCTCGAGAACCGCT	0.403			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"""Mis, N, D, F"""	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			"""colorectal, endometrial, T-ALL"""		47	Substitution - Missense(46)|Unknown(1)	p.R479Q(29)|p.R479L(5)|p.R399Q(3)|p.R479P(2)|p.R240L(1)|p.R361P(1)|p.R399P(1)|p.?(1)|p.R361Q(1)|p.R399L(1)|p.R240Q(1)|p.R240P(1)	haematopoietic_and_lymphoid_tissue(16)|large_intestine(9)|endometrium(7)|urinary_tract(5)|upper_aerodigestive_tract(4)|lung(4)|stomach(1)|kidney(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1435-1437)cGa>cAa		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							85.0	80.0	82.0					4																	153247366		2203	4299	6502	SO:0001583	missense	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153247366C>T	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1436G>A	4.37:g.153247366C>T	ENSP00000281708:p.Arg479Gln					FBXW7_ENST00000603548.1_Missense_Mutation_p.R479Q|FBXW7_ENST00000393956.3_Missense_Mutation_p.R303Q|FBXW7_ENST00000263981.5_Missense_Mutation_p.R399Q|FBXW7_ENST00000296555.5_Missense_Mutation_p.R361Q|FBXW7_ENST00000603841.1_Missense_Mutation_p.R479Q	p.R479Q	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			10	2665	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	479					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1436G>A	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	C	33	5.283775	0.95489	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.72	5.72	0.89469	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.50222	0.1603	N	0.12527	0.23	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.56529	-0.7964	10	0.56958	D	0.05	-12.7081	20.2406	0.98372	0.0:1.0:0.0:0.0	.	303;479;361;399	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	Q	479;361;399;303	ENSP00000281708:R479Q;ENSP00000296555:R361Q;ENSP00000263981:R399Q;ENSP00000377528:R303Q	ENSP00000263981:R399Q	R	-	2	0	FBXW7	153466816	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.715000	0.84713	2.857000	0.98124	0.650000	0.86243	CGA		0.403	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			5	101	0	0	0	1	0	5	101				
SYNE2	23224	broad.mit.edu	37	14	64656897	64656897	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr14:64656897G>A	ENST00000344113.4	+	99	18192	c.17980G>A	c.(17980-17982)Gac>Aac	p.D5994N	SYNE2_ENST00000394768.2_Missense_Mutation_p.D2379N|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.D2628N|SYNE2_ENST00000358025.3_Missense_Mutation_p.D5994N|SYNE2_ENST00000357395.3_Missense_Mutation_p.D2379N|SYNE2_ENST00000554584.1_Missense_Mutation_p.D5857N	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5994					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGAGATCGATGACAAGCTCAA	0.388																																						ENST00000357395.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(7135-7137)Gac>Aac		spectrin repeat containing, nuclear envelope 2							137.0	116.0	123.0					14																	64656897		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64656897G>A	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.17980G>A	14.37:g.64656897G>A	ENSP00000341781:p.Asp5994Asn					SYNE2_ENST00000554584.1_Missense_Mutation_p.D5857N|SYNE2_ENST00000358025.3_Missense_Mutation_p.D5994N|SYNE2_ENST00000344113.4_Missense_Mutation_p.D5994N|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.D2379N|SYNE2_ENST00000555002.1_Missense_Mutation_p.D2628N	p.D2379N			Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	100	18279	+			5994					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.7135G>A	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.381902	0.24944	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.57107	1.33;1.33;1.33;0.42;1.33;1.33	5.56	5.56	0.83823	.	0.127194	0.33895	N	0.004445	T	0.41971	0.1182	N	0.19112	0.55	0.80722	D	1	B;B;B;B;P	0.35242	0.171;0.046;0.041;0.107;0.492	B;B;B;B;B	0.38562	0.124;0.038;0.013;0.094;0.276	T	0.46624	-0.9178	10	0.87932	D	0	.	12.8033	0.57598	0.0748:0.0:0.9252:0.0	.	2379;382;5857;5994;5994	Q8WXH0-7;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;SYNE2_HUMAN;.	N	5994;2379;5994;5857;5863;2628;2379	ENSP00000350719:D5994N;ENSP00000349969:D2379N;ENSP00000341781:D5994N;ENSP00000452570:D5857N;ENSP00000450831:D2628N;ENSP00000378249:D2379N	ENSP00000261678:D5863N	D	+	1	0	SYNE2	63726650	0.999000	0.42202	0.993000	0.49108	0.598000	0.36846	2.739000	0.47409	2.614000	0.88457	0.555000	0.69702	GAC		0.388	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		42	43	0	0	0	1	0	42	43				
KIF21B	23046	broad.mit.edu	37	1	200944633	200944633	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:200944633G>A	ENST00000422435.2	-	33	4924	c.4608C>T	c.(4606-4608)ctC>ctT	p.L1536L	KIF21B_ENST00000360529.5_Silent_p.L1523L|KIF21B_ENST00000332129.2_Silent_p.L1523L|KIF21B_ENST00000461742.2_Silent_p.L1536L	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	1536					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CCACCTGGATGAGCTCCTGCT	0.602																																						ENST00000332129.2																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						c.(4567-4569)ctC>ctT		kinesin family member 21B							128.0	108.0	115.0					1																	200944633		2203	4300	6503	SO:0001819	synonymous_variant	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200944633G>A	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.4608C>T	1.37:g.200944633G>A						KIF21B_ENST00000461742.2_Silent_p.L1536L|KIF21B_ENST00000422435.2_Silent_p.L1536L|KIF21B_ENST00000360529.5_Silent_p.L1523L	p.L1523L	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN			32	4885	-			1536					B2RP62|B7ZMI0|Q5T4J3	Silent	SNP	ENST00000422435.2	37	c.4569C>T	CCDS58056.1																																																																																				0.602	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		32	61	0	0	0	1	0	32	61				
TAF3	83860	broad.mit.edu	37	10	8006971	8006971	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr10:8006971C>T	ENST00000344293.5	+	3	1704	c.1498C>T	c.(1498-1500)Ccc>Tcc	p.P500S		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	500					maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						AGTGTCTCCTCCCACTCCCGA	0.458																																						ENST00000344293.5																			0				NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						c.(1498-1500)Ccc>Tcc		TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa							92.0	90.0	91.0					10																	8006971		1899	4111	6010	SO:0001583	missense	83860				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding	g.chr10:8006971C>T	AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"""Zinc fingers, PHD-type"""	17303	protein-coding gene	gene with protein product		606576	"""TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"""			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.1498C>T	10.37:g.8006971C>T	ENSP00000340271:p.Pro500Ser						p.P500S	NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN			3	1704	+			500					Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Missense_Mutation	SNP	ENST00000344293.5	37	c.1498C>T	CCDS41487.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.441973	0.63067	.	.	ENSG00000165632	ENST00000344293	T	0.25085	1.82	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000003	T	0.40473	0.1118	L	0.47016	1.485	0.80722	D	1	D	0.56746	0.977	P	0.54460	0.753	T	0.03887	-1.0995	10	0.51188	T	0.08	-15.6358	20.0989	0.97860	0.0:1.0:0.0:0.0	.	500	Q5VWG9	TAF3_HUMAN	S	500	ENSP00000340271:P500S	ENSP00000340271:P500S	P	+	1	0	TAF3	8046977	1.000000	0.71417	1.000000	0.80357	0.383000	0.30230	7.244000	0.78228	2.764000	0.94973	0.650000	0.86243	CCC		0.458	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	NM_031923		51	75	0	0	0	1	0	51	75				
TTN	7273	broad.mit.edu	37	2	179451406	179451406	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:179451406C>G	ENST00000591111.1	-	258	59523	c.59299G>C	c.(59299-59301)Gaa>Caa	p.E19767Q	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E12343Q|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E12468Q|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E21408Q|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E12535Q|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E18840Q			Q8WZ42	TITIN_HUMAN	titin	19767	Fibronectin type-III 43. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCTGCTCTTCTTCTCTGTAA	0.458																																						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.(64222-64224)Gaa>Caa		titin							174.0	170.0	171.0					2																	179451406		1972	4186	6158	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179451406C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.59299G>C	2.37:g.179451406C>G	ENSP00000465570:p.Glu19767Gln					TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E12535Q|TTN_ENST00000359218.5_Missense_Mutation_p.E12468Q|TTN_ENST00000342992.6_Missense_Mutation_p.E18840Q|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E19767Q|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E12343Q|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA	p.E21408Q	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)		308	64446	-			19767			Fibronectin type-III 55.		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.64222G>C		.	.	.	.	.	.	.	.	.	.	C	22.7	4.327910	0.81690	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	6.07	6.07	0.98685	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.64394	0.2594	L	0.49640	1.575	0.53688	D	0.999972	D;D;D;D	0.54772	0.968;0.968;0.968;0.968	P;P;P;P	0.56960	0.81;0.81;0.81;0.81	T	0.64753	-0.6333	9	0.87932	D	0	.	17.5216	0.87789	0.0:0.8766:0.1234:0.0	.	12343;12468;12535;19767	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	18840;12343;12535;12468;12341	ENSP00000343764:E18840Q;ENSP00000434586:E12343Q;ENSP00000340554:E12535Q;ENSP00000352154:E12468Q	ENSP00000340554:E12535Q	E	-	1	0	TTN	179159652	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.073000	0.71245	2.884000	0.98904	0.655000	0.94253	GAA		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		48	78	0	0	0	1	0	48	78				
ZSCAN22	342945	broad.mit.edu	37	19	58850485	58850485	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:58850485G>A	ENST00000329665.4	+	3	1416	c.1269G>A	c.(1267-1269)ctG>ctA	p.L423L		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	423					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)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		GCTCAGCCCTGATCCGACATC	0.577																																						ENST00000329665.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16						c.(1267-1269)ctG>ctA		zinc finger and SCAN domain containing 22							84.0	79.0	81.0					19																	58850485		2203	4300	6503	SO:0001819	synonymous_variant	342945				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58850485G>A	M20675	CCDS12975.1	19q13.43	2013-01-08	2006-09-20	2006-09-20				"""-"", ""Zinc fingers, C2H2-type"""	4929	protein-coding gene	gene with protein product	"""oncogene HKR2"""	165260	"""zinc finger protein 50"", ""GLI-Kruppel family member HKR2"""	ZNF50, HKR2		2850480, 1505991	Standard	NM_181846		Approved		uc002qsc.2	P10073		ENST00000329665.4:c.1269G>A	19.37:g.58850485G>A							p.L423L	NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)	3	1416	+		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	423					Q15922|Q7Z3L8	Silent	SNP	ENST00000329665.4	37	c.1269G>A	CCDS12975.1																																																																																				0.577	ZSCAN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466765.1	NM_181846		50	98	0	0	0	1	0	50	98				
TBC1D3P5	440419	broad.mit.edu	37	17	25758271	25758271	+	RNA	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr17:25758271C>T	ENST00000586223.1	+	0	2705					NR_033892.1				TBC1 domain family, member 3 pseudogene 5																		GCTTCCACCTCGGGGCCTTGG	0.567											OREG0024258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000586223.1																			0																																																			440419							g.chr17:25758271C>T			17q11.1	2014-03-20			ENSG00000266433	ENSG00000266433			43567	pseudogene	pseudogene							Standard	NR_033892		Approved		uc002gzg.3		OTTHUMG00000179156		17.37:g.25758271C>T			OREG0024258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	781			NR_033892.1						0	2705	+									RNA	SNP	ENST00000586223.1	37																																																																																						0.567	TBC1D3P5-003	KNOWN	non_canonical_TEC|basic	processed_transcript	pseudogene	OTTHUMT00000451073.1	NR_033892		16	18	0	0	0	1	0	16	18				
FAM133A	286499	broad.mit.edu	37	X	92964593	92964593	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chrX:92964593G>A	ENST00000355813.5	+	4	701	c.175G>A	c.(175-177)Gct>Act	p.A59T	FAM133A_ENST00000322139.4_Missense_Mutation_p.A59T|FAM133A_ENST00000538690.1_Missense_Mutation_p.A59T|FAM133A_ENST00000332647.4_Missense_Mutation_p.A59T	NM_001171109.1|NM_173698.2	NP_001164580.1|NP_775969.1	Q8N9E0	F133A_HUMAN	family with sequence similarity 133, member A	59	Lys-rich.									breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						AAAAGCATTAGCTGAATTTGA	0.323																																						ENST00000538690.1																			0				breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						c.(175-177)Gct>Act		family with sequence similarity 133, member A							29.0	30.0	30.0					X																	92964593		2181	4270	6451	SO:0001583	missense	286499							g.chrX:92964593G>A	AK094978	CCDS14466.1	Xq21.32	2010-05-04			ENSG00000179083	ENSG00000179083			26748	protein-coding gene	gene with protein product	"""cancer/testis antigen 115"""						Standard	NM_173698		Approved	RP1-32F7.2, FLJ37659, CT115	uc022bzv.1	Q8N9E0	OTTHUMG00000021975	ENST00000355813.5:c.175G>A	X.37:g.92964593G>A	ENSP00000348067:p.Ala59Thr					FAM133A_ENST00000355813.5_Missense_Mutation_p.A59T|FAM133A_ENST00000322139.4_Missense_Mutation_p.A59T|FAM133A_ENST00000332647.4_Missense_Mutation_p.A59T	p.A59T	NM_001171110.1	NP_001164581.1	Q8N9E0	F133A_HUMAN			5	736	+			59			Lys-rich.			Missense_Mutation	SNP	ENST00000355813.5	37	c.175G>A	CCDS14466.1	.	.	.	.	.	.	.	.	.	.	g	16.76	3.211276	0.58343	.	.	ENSG00000179083	ENST00000538690;ENST00000355813;ENST00000322139;ENST00000332647	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	3.2	2.32	0.28847	.	0.056188	0.64402	N	0.000001	T	0.37598	0.1009	M	0.79475	2.455	0.25527	N	0.98731	B	0.30709	0.291	B	0.23852	0.049	T	0.41574	-0.9501	10	0.72032	D	0.01	-3.8387	5.2839	0.15690	0.1621:0.0:0.8379:0.0	.	59	Q8N9E0	F133A_HUMAN	T	59	ENSP00000441389:A59T;ENSP00000348067:A59T;ENSP00000318974:A59T;ENSP00000362169:A59T	ENSP00000318974:A59T	A	+	1	0	FAM133A	92851249	1.000000	0.71417	0.983000	0.44433	0.881000	0.50899	3.738000	0.55067	0.732000	0.32470	0.597000	0.82753	GCT		0.323	FAM133A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057452.1	NM_173698		5	16	0	0	0	1	0	5	16				
PLXNB2	23654	broad.mit.edu	37	22	50719804	50719804	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr22:50719804G>T	ENST00000449103.1	-	22	3787	c.3647C>A	c.(3646-3648)tCt>tAt	p.S1216Y	PLXNB2_ENST00000359337.4_Missense_Mutation_p.S1216Y|PLXNB2_ENST00000496720.1_5'Flank			O15031	PLXB2_HUMAN	plexin B2	1216					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|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)		GCAGTAGACAGACACCGCGAT	0.697																																						ENST00000449103.1																			0				breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(3646-3648)tCt>tAt		plexin B2							27.0	39.0	35.0					22																	50719804		2187	4278	6465	SO:0001583	missense	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50719804G>T		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.3647C>A	22.37:g.50719804G>T	ENSP00000409171:p.Ser1216Tyr					PLXNB2_ENST00000359337.4_Missense_Mutation_p.S1216Y	p.S1216Y			O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	22	3787	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1216					A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	c.3647C>A	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.765225	0.49574	.	.	ENSG00000196576	ENST00000449103;ENST00000359337	T;T	0.03386	3.95;3.95	4.71	3.62	0.41486	.	0.000000	0.56097	D	0.000023	T	0.12689	0.0308	L	0.55481	1.735	0.38568	D	0.949887	D	0.76494	0.999	D	0.67103	0.949	T	0.02691	-1.1123	10	0.66056	D	0.02	.	14.2405	0.65954	0.0:0.1501:0.8499:0.0	.	1216	O15031	PLXB2_HUMAN	Y	1216	ENSP00000409171:S1216Y;ENSP00000352288:S1216Y	ENSP00000352288:S1216Y	S	-	2	0	PLXNB2	49061931	1.000000	0.71417	0.966000	0.40874	0.244000	0.25665	5.246000	0.65411	2.163000	0.67991	0.561000	0.74099	TCT		0.697	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		37	36	1	0	2.87052e-16	1	2.99624e-16	37	36				
PAX8	7849	broad.mit.edu	37	2	114004387	114004387	+	Nonsense_Mutation	SNP	G	G	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:114004387G>T	ENST00000429538.3	-	3	329	c.135C>A	c.(133-135)tgC>tgA	p.C45*	AC016683.6_ENST00000553869.2_RNA|AC016683.6_ENST00000333145.5_RNA|PAX8_ENST00000397647.3_Nonsense_Mutation_p.C45*|PAX8_ENST00000348715.5_Nonsense_Mutation_p.C45*|AC016683.6_ENST00000422956.2_RNA|PAX8_ENST00000263334.5_Nonsense_Mutation_p.C45*|PAX8_ENST00000263335.7_Nonsense_Mutation_p.C45*|AC016683.6_ENST00000445745.1_RNA|AC016683.6_ENST00000556070.1_RNA|AC016683.6_ENST00000451179.1_RNA|AC016683.6_ENST00000436293.2_RNA	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	45	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				anatomical structure morphogenesis (GO:0009653)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular response to gonadotropin stimulus (GO:0071371)|central nervous system development (GO:0007417)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesonephros development (GO:0001823)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric nephron tubule formation (GO:0072289)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|otic vesicle development (GO:0071599)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|regulation of apoptotic process (GO:0042981)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of thyroid-stimulating hormone secretion (GO:2000612)|thyroid gland development (GO:0030878)|thyroid-stimulating hormone signaling pathway (GO:0038194)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid-stimulating hormone receptor activity (GO:0004996)|transcription regulatory region DNA binding (GO:0044212)		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						GAGAGATGTCGCAGGGCCTTA	0.642			T	PPARG	follicular thyroid		Thyroid dysgenesis																														Ovarian(188;7 2067 9084 29802 29892)	ENST00000429538.3				Dom	yes		2	2q12-q14	7849	T	paired box gene 8	yes	Thyroid dysgenesis	E	PPARG		follicular thyroid	PAX8/PPARG(117)	0				breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						c.(133-135)tgC>tgA		paired box 8							55.0	62.0	59.0					2																	114004387		2154	4291	6445	SO:0001587	stop_gained	7849				branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity	g.chr2:114004387G>T	X69699	CCDS42735.1, CCDS42736.1, CCDS46398.1, CCDS46399.1	2q13	2011-06-20	2007-07-12		ENSG00000125618	ENSG00000125618		"""Paired boxes"", ""Homeoboxes / PRD class"""	8622	protein-coding gene	gene with protein product		167415	"""paired box gene 8"""			8431641, 7981748	Standard	NM_003466		Approved		uc010yxt.2	Q06710	OTTHUMG00000128529	ENST00000429538.3:c.135C>A	2.37:g.114004387G>T	ENSP00000395498:p.Cys45*					AC016683.6_ENST00000436293.2_RNA|AC016683.6_ENST00000333145.5_RNA|PAX8_ENST00000397647.3_Nonsense_Mutation_p.C45*|PAX8_ENST00000348715.5_Nonsense_Mutation_p.C45*|PAX8_ENST00000263334.5_Nonsense_Mutation_p.C45*|AC016683.6_ENST00000556070.1_RNA|AC016683.6_ENST00000451179.1_RNA|AC016683.6_ENST00000553869.2_RNA|AC016683.6_ENST00000445745.1_RNA|AC016683.6_ENST00000422956.1_RNA|PAX8_ENST00000263335.7_Nonsense_Mutation_p.C45*	p.C45*	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN			3	329	-			45			Paired.		Q09155|Q16337|Q16338|Q16339|Q4ZG35|Q96J49	Nonsense_Mutation	SNP	ENST00000429538.3	37	c.135C>A	CCDS46398.1	.	.	.	.	.	.	.	.	.	.	G	17.47	3.397340	0.62177	.	.	ENSG00000125618	ENST00000263335;ENST00000397647;ENST00000348715;ENST00000429538;ENST00000263334	.	.	.	5.31	-8.44	0.00950	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.9778	0.71289	0.7881:0.0:0.2119:0.0	.	.	.	.	X	45	.	ENSP00000263334:C45X	C	-	3	2	PAX8	113720857	0.119000	0.22226	0.867000	0.34043	0.877000	0.50540	-0.443000	0.06862	-1.488000	0.01847	-1.021000	0.02439	TGC		0.642	PAX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250353.5			6	94	1	0	8.12818e-05	1	8.21435e-05	6	94				
ABTB2	25841	broad.mit.edu	37	11	34174075	34174075	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:34174075C>T	ENST00000435224.2	-	17	3361	c.2937G>A	c.(2935-2937)atG>atA	p.M979I	ABTB2_ENST00000298992.2_Missense_Mutation_p.M793I	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	979					cellular response to toxic substance (GO:0097237)	nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				GTAGGGCCTTCATGTGCTTGA	0.597																																						ENST00000435224.2																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(2935-2937)atG>atA		ankyrin repeat and BTB (POZ) domain containing 2							58.0	53.0	54.0					11																	34174075		2202	4298	6500	SO:0001583	missense	25841						DNA binding	g.chr11:34174075C>T	AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.2937G>A	11.37:g.34174075C>T	ENSP00000410157:p.Met979Ile					ABTB2_ENST00000298992.2_Missense_Mutation_p.M793I	p.M979I	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN			17	3361	-		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)	793					A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Missense_Mutation	SNP	ENST00000435224.2	37	c.2937G>A	CCDS7890.2	.	.	.	.	.	.	.	.	.	.	C	28.7	4.943610	0.92593	.	.	ENSG00000166016	ENST00000435224;ENST00000298992	T;T	0.60548	0.18;0.18	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.63838	0.2545	M	0.69358	2.11	0.80722	D	1	D	0.56521	0.976	P	0.47206	0.541	T	0.71490	-0.4577	10	0.72032	D	0.01	-15.3626	17.6434	0.88143	0.0:1.0:0.0:0.0	.	793	Q8N961	ABTB2_HUMAN	I	979;793	ENSP00000410157:M979I;ENSP00000298992:M793I	ENSP00000298992:M793I	M	-	3	0	ABTB2	34130651	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.487000	0.81328	2.156000	0.67533	0.462000	0.41574	ATG		0.597	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388703.3	NM_145804		14	88	0	0	0	1	0	14	88				
ZNF592	9640	broad.mit.edu	37	15	85345272	85345272	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr15:85345272C>T	ENST00000560079.2	+	11	3740	c.3452C>T	c.(3451-3453)tCc>tTc	p.S1151F	ZNF592_ENST00000299927.3_Missense_Mutation_p.S1151F	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	1151					cell death (GO:0008219)|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(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GTGGACAGCTCCACAGCCCAA	0.552																																						ENST00000299927.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40						c.(3451-3453)tCc>tTc		zinc finger protein 592							64.0	55.0	58.0					15																	85345272		2203	4299	6502	SO:0001583	missense	9640				cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:85345272C>T	D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"""Zinc fingers, C2H2-type"""	28986	protein-coding gene	gene with protein product		613624	"""spinocerebellar ataxia, autosomal recessive 5"""	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.3452C>T	15.37:g.85345272C>T	ENSP00000452877:p.Ser1151Phe					ZNF592_ENST00000560079.2_Missense_Mutation_p.S1151F	p.S1151F			Q92610	ZN592_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		8	3474	+			1151					Q2M1T2|Q504Y9	Missense_Mutation	SNP	ENST00000560079.2	37	c.3452C>T	CCDS32317.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.544587	0.65198	.	.	ENSG00000166716	ENST00000299927	T	0.00646	6.0	5.62	5.62	0.85841	.	0.336296	0.36409	N	0.002616	T	0.02380	0.0073	L	0.43923	1.385	0.42019	D	0.990975	D	0.76494	0.999	D	0.71656	0.974	T	0.64571	-0.6376	10	0.72032	D	0.01	-26.1201	17.1568	0.86793	0.0:1.0:0.0:0.0	.	1151	Q92610	ZN592_HUMAN	F	1151	ENSP00000299927:S1151F	ENSP00000299927:S1151F	S	+	2	0	ZNF592	83146276	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.345000	0.33953	2.648000	0.89879	0.655000	0.94253	TCC		0.552	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	NM_014630		21	42	0	0	0	1	0	21	42				
PIBF1	10464	broad.mit.edu	37	13	73369684	73369684	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr13:73369684G>A	ENST00000326291.6	+	4	879	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	181						centrosome (GO:0005813)				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		TTCTATTCCTGAATATGTATC	0.299																																						ENST00000326291.6																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24						c.(541-543)Gaa>Aaa		progesterone immunomodulatory binding factor 1							47.0	50.0	49.0					13																	73369684		2203	4298	6501	SO:0001583	missense	10464					centrosome		g.chr13:73369684G>A	AF330046	CCDS31991.1	13q21.33	2014-02-20	2007-10-17	2007-10-17	ENSG00000083535	ENSG00000083535			23352	protein-coding gene	gene with protein product	"""progesterone-induced blocking factor 1"""	607532	"""chromosome 13 open reading frame 24"""	C13orf24		11935316	Standard	NM_006346		Approved	CEP90	uc001vjc.3	Q8WXW3	OTTHUMG00000017071	ENST00000326291.6:c.541G>A	13.37:g.73369684G>A	ENSP00000317144:p.Glu181Lys						p.E181K	NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN		GBM - Glioblastoma multiforme(99;0.000664)	4	879	+		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)	181					O95664|Q6U9V2|Q6UG50|Q86V07|Q96SF4	Missense_Mutation	SNP	ENST00000326291.6	37	c.541G>A	CCDS31991.1	.	.	.	.	.	.	.	.	.	.	G	33	5.198853	0.94997	.	.	ENSG00000083535	ENST00000326291;ENST00000538949	T	0.07216	3.21	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.32102	0.0818	M	0.73598	2.24	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.80764	0.994;0.994	T	0.00972	-1.1495	10	0.62326	D	0.03	-21.4367	19.8603	0.96781	0.0:0.0:1.0:0.0	.	181;181	Q8WXW3;Q4G0R1	PIBF1_HUMAN;.	K	181	ENSP00000317144:E181K	ENSP00000317144:E181K	E	+	1	0	PIBF1	72267685	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.703000	0.91344	2.681000	0.91329	0.655000	0.94253	GAA		0.299	PIBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045255.1	NM_006346		20	31	0	0	0	1	0	20	31				
ZNF23	7571	broad.mit.edu	37	16	71483728	71483728	+	Nonsense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:71483728G>C	ENST00000393539.2	-	6	1013	c.200C>G	c.(199-201)tCa>tGa	p.S67*	ZNF23_ENST00000564528.1_Nonsense_Mutation_p.S9*|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000358700.2_3'UTR|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000357254.4_Nonsense_Mutation_p.S67*|ZNF23_ENST00000417828.1_Nonsense_Mutation_p.S67*|ZNF23_ENST00000428724.2_Nonsense_Mutation_p.S9*|ZNF23_ENST00000497160.1_3'UTR	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	67					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)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		AAGTTCAAATGATACATTCTC	0.338																																						ENST00000393539.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29						c.(199-201)tCa>tGa		zinc finger protein 23							70.0	70.0	70.0					16																	71483728		2198	4300	6498	SO:0001587	stop_gained	7571				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:71483728G>C	X52347	CCDS10900.1	16q22.2	2013-03-28	2012-07-12		ENSG00000167377	ENSG00000167377		"""Zinc fingers, C2H2-type"""	13023	protein-coding gene	gene with protein product		194527	"""zinc finger protein 359"""	ZNF359			Standard	NM_145911		Approved	KOX16, Zfp612, ZNF612	uc002faf.3	P17027	OTTHUMG00000176797	ENST00000393539.2:c.200C>G	16.37:g.71483728G>C	ENSP00000377171:p.Ser67*					ZNF23_ENST00000564528.1_Nonsense_Mutation_p.S9*|ZNF23_ENST00000417828.1_Nonsense_Mutation_p.S67*|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000357254.4_Nonsense_Mutation_p.S67*|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000428724.2_Nonsense_Mutation_p.S9*|AC010547.9_ENST00000561908.1_3'UTR|RP11-510M2.10_ENST00000576258.1_RNA	p.S67*	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0686)	6	1013	-		Ovarian(137;0.00768)	67					Q8NDP5|Q96IT3|Q9UG42	Nonsense_Mutation	SNP	ENST00000393539.2	37	c.200C>G	CCDS10900.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.871493	0.72065	.	.	ENSG00000167377	ENST00000393539;ENST00000357254;ENST00000417828;ENST00000428724;ENST00000539742	.	.	.	4.16	0.512	0.16994	.	0.214474	0.23868	N	0.043767	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	-0.039	7.3869	0.26888	0.376:0.0:0.624:0.0	.	.	.	.	X	67;67;67;9;9	.	ENSP00000349796:S67X	S	-	2	0	ZNF23	70041229	0.000000	0.05858	0.459000	0.27081	0.205000	0.24178	0.322000	0.19576	0.147000	0.19030	-0.136000	0.14681	TCA		0.338	ZNF23-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268985.23	NM_145911		39	57	0	0	0	1	0	39	57				
CINP	51550	broad.mit.edu	37	14	102816325	102816325	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr14:102816325C>G	ENST00000216756.6	-	4	407	c.367G>C	c.(367-369)Gaa>Caa	p.E123Q	CINP_ENST00000560326.1_5'Flank|CINP_ENST00000536961.2_Missense_Mutation_p.E138Q|CINP_ENST00000541568.2_Intron	NM_032630.2	NP_116019.1	Q9BW66	CINP_HUMAN	cyclin-dependent kinase 2 interacting protein	123					cell cycle (GO:0007049)|cell division (GO:0051301)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	nucleus (GO:0005634)				large_intestine(2)|lung(2)	4						TGGTAGTTTTCTAGTTCACAA	0.388																																						ENST00000216756.6																			0				large_intestine(2)|lung(2)	4						c.(367-369)Gaa>Caa		cyclin-dependent kinase 2 interacting protein							133.0	129.0	131.0					14																	102816325		2203	4300	6503	SO:0001583	missense	51550				cell cycle|cell division|DNA repair|DNA replication	nucleus	protein binding	g.chr14:102816325C>G	AK056112, AF228148, AF228149	CCDS9972.1	14q32.33	2010-02-17			ENSG00000100865	ENSG00000100865			23789	protein-coding gene	gene with protein product		613362				16082200	Standard	NM_032630		Approved	MGC849	uc021sea.1	Q9BW66		ENST00000216756.6:c.367G>C	14.37:g.102816325C>G	ENSP00000216756:p.Glu123Gln					CINP_ENST00000541568.2_Intron|CINP_ENST00000536961.2_Missense_Mutation_p.E138Q	p.E123Q	NM_032630.2	NP_116019.1	Q9BW66	CINP_HUMAN			4	407	-			123					F5H7P3|F5H8A7|Q9NPF9	Missense_Mutation	SNP	ENST00000216756.6	37	c.367G>C	CCDS9972.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.048838	0.93740	.	.	ENSG00000100865	ENST00000216756;ENST00000536961	T;T	0.52754	0.68;0.65	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.61035	0.2315	L	0.59436	1.845	0.80722	D	1	D	0.56521	0.976	P	0.54060	0.741	T	0.59080	-0.7521	10	0.51188	T	0.08	-24.8866	20.2822	0.98520	0.0:1.0:0.0:0.0	.	123	Q9BW66	CINP_HUMAN	Q	123;138	ENSP00000216756:E123Q;ENSP00000442057:E138Q	ENSP00000216756:E123Q	E	-	1	0	CINP	101886078	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	6.137000	0.71710	2.806000	0.96561	0.655000	0.94253	GAA		0.388	CINP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415055.1	NM_032630		17	40	0	0	0	1	0	17	40				
DSC3	1825	broad.mit.edu	37	18	28604361	28604361	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr18:28604361G>C	ENST00000360428.4	-	6	809	c.729C>G	c.(727-729)ttC>ttG	p.F243L	DSC3_ENST00000434452.1_Missense_Mutation_p.F243L	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	243	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TTGCTTCTGTGAAAACAGGGT	0.373																																						ENST00000434452.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(727-729)ttC>ttG		desmocollin 3							74.0	80.0	78.0					18																	28604361		2203	4300	6503	SO:0001583	missense	1825				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	g.chr18:28604361G>C	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"""Cadherins / Major cadherins"""	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.729C>G	18.37:g.28604361G>C	ENSP00000353608:p.Phe243Leu					DSC3_ENST00000360428.4_Missense_Mutation_p.F243L	p.F243L	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)		6	883	-			243			Cadherin 1.		A6NN35|Q14200|Q9HAZ9	Missense_Mutation	SNP	ENST00000360428.4	37	c.729C>G	CCDS32810.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.557825	0.45590	.	.	ENSG00000134762	ENST00000360428;ENST00000434452	T;T	0.78707	-1.2;-1.2	4.94	1.07	0.20283	Cadherin (3);Cadherin-like (1);	0.000000	0.34314	N	0.004072	D	0.84897	0.5574	H	0.94808	3.585	0.53005	D	0.999969	P;P	0.49696	0.895;0.927	P;P	0.50934	0.557;0.654	D	0.83707	0.0185	10	0.87932	D	0	.	7.4786	0.27391	0.4664:0.0:0.5336:0.0	.	243;243	Q14574;Q14574-2	DSC3_HUMAN;.	L	243	ENSP00000353608:F243L;ENSP00000392068:F243L	ENSP00000353608:F243L	F	-	3	2	DSC3	26858359	1.000000	0.71417	0.900000	0.35374	0.418000	0.31294	1.138000	0.31491	0.069000	0.16605	-0.140000	0.14226	TTC		0.373	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423		16	43	0	0	0	1	0	16	43				
LINC00969	440993	broad.mit.edu	37	3	195400799	195400799	+	lincRNA	SNP	G	G	A	rs7635172		TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:195400799G>A	ENST00000445430.1	+	0	1395									long intergenic non-protein coding RNA 969																		CAAACTCGCTGTTGGACCTGG	0.597																																						ENST00000445430.1																			0																																																			440993							g.chr3:195400799G>A	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400799G>A														0	1395	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.597	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			5	51	0	0	0	1	0	5	51				
TEP1	7011	broad.mit.edu	37	14	20836610	20836610	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr14:20836610G>T	ENST00000262715.5	-	55	7910	c.7870C>A	c.(7870-7872)Ctg>Atg	p.L2624M	TEP1_ENST00000556935.1_Missense_Mutation_p.L2516M	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2624					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)	p.L2624M(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TCCCAATTCAGAAAGTACACA	0.493																																						ENST00000262715.5																			1	Substitution - Missense(1)	p.L2624M(1)	NS(1)	NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(7870-7872)Ctg>Atg		telomerase-associated protein 1							82.0	74.0	77.0					14																	20836610		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20836610G>T		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.7870C>A	14.37:g.20836610G>T	ENSP00000262715:p.Leu2624Met					TEP1_ENST00000556935.1_Missense_Mutation_p.L2516M	p.L2624M	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	55	7910	-	all_cancers(95;0.00123)	all_lung(585;0.235)	2624					A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.7870C>A	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.078028	0.55753	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.37235	1.21;1.21	5.81	1.93	0.25924	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.64402	D	0.000011	T	0.42921	0.1224	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.33420	-0.9869	10	0.72032	D	0.01	-12.4782	8.8738	0.35332	0.3023:0.0:0.6977:0.0	.	2516;2624	G3V5X7;Q99973	.;TEP1_HUMAN	M	2624;2616;2516	ENSP00000262715:L2624M;ENSP00000452574:L2516M	ENSP00000262715:L2624M	L	-	1	2	TEP1	19906450	0.802000	0.28943	1.000000	0.80357	0.549000	0.35272	0.107000	0.15375	0.805000	0.34159	0.591000	0.81541	CTG		0.493	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		30	68	1	0	3.99451e-17	1	4.17707e-17	30	68				
TMEM39A	55254	broad.mit.edu	37	3	119176976	119176976	+	Silent	SNP	A	A	G	rs199875500		TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:119176976A>G	ENST00000319172.5	-	3	645	c.225T>C	c.(223-225)ttT>ttC	p.F75F	TMEM39A_ENST00000486159.1_5'UTR	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	75						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		AAAGGAATTCAAAGAGTAGGC	0.433																																						ENST00000319172.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13						c.(223-225)ttT>ttC		transmembrane protein 39A							139.0	141.0	140.0					3																	119176976		2203	4300	6503	SO:0001819	synonymous_variant	55254					integral to membrane		g.chr3:119176976A>G	BC021277	CCDS2987.1	3q13.33	2005-01-10			ENSG00000176142	ENSG00000176142			25600	protein-coding gene	gene with protein product						12477932	Standard	NM_018266		Approved	FLJ10902	uc003eck.2	Q9NV64	OTTHUMG00000159361	ENST00000319172.5:c.225T>C	3.37:g.119176976A>G						TMEM39A_ENST00000486159.1_5'UTR	p.F75F	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN		GBM - Glioblastoma multiforme(114;0.244)	3	645	-			75					D3DN80|Q53FN4|Q53GI1|Q6PKB5	Silent	SNP	ENST00000319172.5	37	c.225T>C	CCDS2987.1																																																																																				0.433	TMEM39A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354941.3	NM_018266		41	167	0	0	0	1	0	41	167				
FRAS1	80144	broad.mit.edu	37	4	79297016	79297016	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:79297016C>G	ENST00000325942.6	+	26	3715	c.3275C>G	c.(3274-3276)tCt>tGt	p.S1092C	FRAS1_ENST00000264895.6_Missense_Mutation_p.S1092C	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1092					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GTCCACACCTCTAATGAAACA	0.448																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(3274-3276)tCt>tGt		Fraser syndrome 1							148.0	138.0	141.0					4																	79297016		1946	4139	6085	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79297016C>G	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.3275C>G	4.37:g.79297016C>G	ENSP00000326330:p.Ser1092Cys					FRAS1_ENST00000325942.6_Missense_Mutation_p.S1092C	p.S1092C	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			26	3715	+			1091					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	c.3275C>G	CCDS54772.1	.	.	.	.	.	.	.	.	.	.	C	6.318	0.426730	0.11987	.	.	ENSG00000138759	ENST00000325942;ENST00000264895	T;T	0.76316	-1.01;-1.01	4.74	2.61	0.31194	.	0.653399	0.14677	N	0.304981	T	0.72471	0.3464	M	0.67700	2.07	0.09310	N	0.999998	P;D	0.61697	0.94;0.99	P;P	0.46049	0.502;0.502	T	0.67142	-0.5745	10	0.59425	D	0.04	.	1.1958	0.01874	0.2182:0.4413:0.1448:0.1956	.	1092;1092	E9PHH6;A2RRR8	.;.	C	1092	ENSP00000326330:S1092C;ENSP00000264895:S1092C	ENSP00000264895:S1092C	S	+	2	0	FRAS1	79516040	0.102000	0.21896	0.898000	0.35279	0.029000	0.11900	0.390000	0.20768	1.105000	0.41606	0.563000	0.77884	TCT		0.448	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			10	24	0	0	0	1	0	10	24				
NKAPL	222698	broad.mit.edu	37	6	28228324	28228324	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:28228324T>C	ENST00000343684.3	+	1	1227	c.1175T>C	c.(1174-1176)gTg>gCg	p.V392A	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	392										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						CGAGAGATGGTGCACAAAAAG	0.373																																						ENST00000343684.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(1174-1176)gTg>gCg		NFKB activating protein-like							75.0	71.0	73.0					6																	28228324		2203	4300	6503	SO:0001583	missense	222698							g.chr6:28228324T>C	BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 194"""	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.1175T>C	6.37:g.28228324T>C	ENSP00000345716:p.Val392Ala						p.V392A	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN			1	1227	+			392					Q3MIV1|Q9H4Q7	Missense_Mutation	SNP	ENST00000343684.3	37	c.1175T>C	CCDS34353.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.134151	0.77662	.	.	ENSG00000189134	ENST00000343684	T	0.25414	1.8	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.40743	0.1129	M	0.75615	2.305	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.41610	-0.9499	10	0.87932	D	0	-14.6756	12.3316	0.55043	0.0:0.0:0.0:1.0	.	392	Q5M9Q1	NKAPL_HUMAN	A	392	ENSP00000345716:V392A	ENSP00000345716:V392A	V	+	2	0	NKAPL	28336303	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.689000	0.84165	2.073000	0.62155	0.533000	0.62120	GTG		0.373	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040185.1			17	37	0	0	0	1	0	17	37				
SYT1	6857	broad.mit.edu	37	12	79837863	79837863	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:79837863G>A	ENST00000261205.4	+	10	1596	c.939G>A	c.(937-939)gtG>gtA	p.V313V	SYT1_ENST00000552744.1_Silent_p.V313V|RP1-78O14.1_ENST00000550268.1_lincRNA|SYT1_ENST00000457153.2_Silent_p.V310V|SYT1_ENST00000393240.3_Silent_p.V313V	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	313	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000305}.				calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|detection of calcium ion (GO:0005513)|glutamate secretion (GO:0014047)|neurotransmitter secretion (GO:0007269)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of vesicle fusion (GO:0031340)|protein homooligomerization (GO:0051260)|regulation of exocytosis (GO:0017157)|regulation of regulated secretory pathway (GO:1903305)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking (GO:0048278)	cell junction (GO:0030054)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|endocytic vesicle membrane (GO:0030666)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol binding (GO:0005545)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						ATCCTTATGTGAAGATTCATC	0.338																																						ENST00000261205.4																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						c.(937-939)gtG>gtA		synaptotagmin I							98.0	92.0	94.0					12																	79837863		2203	4300	6503	SO:0001819	synonymous_variant	6857				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity	g.chr12:79837863G>A		CCDS9017.1	12q21.2	2013-09-20			ENSG00000067715	ENSG00000067715		"""Synaptotagmins"""	11509	protein-coding gene	gene with protein product		185605		SYT, SVP65		1840599	Standard	NM_001135805		Approved	P65	uc001syv.3	P21579	OTTHUMG00000134326	ENST00000261205.4:c.939G>A	12.37:g.79837863G>A						SYT1_ENST00000393240.3_Silent_p.V313V|RP1-78O14.1_ENST00000550268.1_lincRNA|SYT1_ENST00000457153.2_Silent_p.V310V|SYT1_ENST00000552744.1_Silent_p.V313V	p.V313V	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN			10	1596	+			313			C2 2.|Phospholipid binding (Probable).		Q6AI31	Silent	SNP	ENST00000261205.4	37	c.939G>A	CCDS9017.1																																																																																				0.338	SYT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259415.1	NM_005639		4	70	0	0	0	1	0	4	70				
LRRC4B	94030	broad.mit.edu	37	19	51021537	51021537	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:51021537C>G	ENST00000599957.1	-	3	1630	c.1433G>C	c.(1432-1434)gGa>gCa	p.G478A	LRRC4B_ENST00000389201.3_Missense_Mutation_p.G478A			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	478	Gly-rich.				positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		actgccccctccaacaccacc	0.746																																						ENST00000599957.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30						c.(1432-1434)gGa>gCa		leucine rich repeat containing 4B							6.0	8.0	8.0					19																	51021537		1735	3905	5640	SO:0001583	missense	94030					cell junction|integral to membrane|presynaptic membrane		g.chr19:51021537C>G	BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"""Immunoglobulin superfamily / I-set domain containing"", ""Endogenous ligands"""	25042	protein-coding gene	gene with protein product	"""netrin-G3 ligand"""		"""leucine-rich repeats and immunoglobulin-like domains 4"""	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.1433G>C	19.37:g.51021537C>G	ENSP00000471502:p.Gly478Ala					LRRC4B_ENST00000389201.3_Missense_Mutation_p.G478A	p.G478A			Q9NT99	LRC4B_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)	3	1630	-		all_neural(266;0.131)	478			Gly-rich.		Q3ZCQ4|Q58F20	Missense_Mutation	SNP	ENST00000599957.1	37	c.1433G>C	CCDS42595.1	.	.	.	.	.	.	.	.	.	.	C	0.568	-0.842500	0.02671	.	.	ENSG00000131409	ENST00000389201	T	0.57907	0.37	2.32	-0.274	0.12910	.	.	.	.	.	T	0.25531	0.0621	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24368	-1.0162	9	0.07482	T	0.82	.	8.5957	0.33714	0.0:0.4066:0.5934:0.0	.	478	Q9NT99	LRC4B_HUMAN	A	478	ENSP00000373853:G478A	ENSP00000373853:G478A	G	-	2	0	LRRC4B	55713349	0.916000	0.31088	0.018000	0.16275	0.834000	0.47266	0.000000	0.12993	0.033000	0.15463	0.462000	0.41574	GGA		0.746	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	NM_001080457		3	9	0	0	0	1	0	3	9				
AHNAK2	113146	broad.mit.edu	37	14	105419452	105419452	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr14:105419452T>C	ENST00000333244.5	-	7	2455	c.2336A>G	c.(2335-2337)gAc>gGc	p.D779G	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	779						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCCTTTCAGGTCCAGCTTGGG	0.632																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(2335-2337)gAc>gGc		AHNAK nucleoprotein 2							113.0	126.0	122.0					14																	105419452		1860	4092	5952	SO:0001583	missense	113146					nucleus		g.chr14:105419452T>C	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.2336A>G	14.37:g.105419452T>C	ENSP00000353114:p.Asp779Gly					AHNAK2_ENST00000557457.1_Intron	p.D779G	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	2455	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	779					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.2336A>G	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	t	11.74	1.728623	0.30593	.	.	ENSG00000185567	ENST00000333244	T	0.01406	4.93	2.76	2.76	0.32466	.	.	.	.	.	T	0.08358	0.0208	M	0.91510	3.215	0.09310	N	0.999998	D	0.60160	0.987	P	0.59012	0.85	T	0.05852	-1.0860	9	0.49607	T	0.09	.	10.5525	0.45097	0.0:0.0:0.0:1.0	.	779	Q8IVF2	AHNK2_HUMAN	G	779	ENSP00000353114:D779G	ENSP00000353114:D779G	D	-	2	0	AHNAK2	104490497	0.085000	0.21516	0.168000	0.22838	0.145000	0.21501	2.242000	0.43106	1.129000	0.42072	0.397000	0.26171	GAC		0.632	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		116	230	0	0	0	1	0	116	230				
NR3C2	4306	broad.mit.edu	37	4	149356782	149356782	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:149356782G>C	ENST00000358102.3	-	2	1593	c.1231C>G	c.(1231-1233)Cta>Gta	p.L411V	NR3C2_ENST00000355292.3_Missense_Mutation_p.L411V|NR3C2_ENST00000511528.1_Missense_Mutation_p.L411V|NR3C2_ENST00000344721.4_Missense_Mutation_p.L411V|NR3C2_ENST00000512865.1_Missense_Mutation_p.L411V	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	411	Modulating.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	TTTCCTCCTAGACATGAGCTG	0.403																																					Melanoma(27;428 957 40335 51025 51111)	ENST00000355292.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(1231-1233)Cta>Gta		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						87.0	91.0	89.0					4																	149356782		2203	4300	6503	SO:0001583	missense	4306				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149356782G>C	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.1231C>G	4.37:g.149356782G>C	ENSP00000350815:p.Leu411Val					NR3C2_ENST00000358102.3_Missense_Mutation_p.L411V|NR3C2_ENST00000344721.4_Missense_Mutation_p.L411V|NR3C2_ENST00000512865.1_Missense_Mutation_p.L411V|NR3C2_ENST00000511528.1_Missense_Mutation_p.L411V|NR3C2_ENST00000342437.4_Missense_Mutation_p.L411V	p.L411V			P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	2	1593	-	all_hematologic(180;0.151)		411			Modulating.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Missense_Mutation	SNP	ENST00000358102.3	37	c.1231C>G	CCDS3772.1	.	.	.	.	.	.	.	.	.	.	G	8.450	0.852753	0.17106	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000512865;ENST00000544252;ENST00000342437;ENST00000511528	D;D;D;D;D;D	0.93307	-3.19;-3.2;-3.19;-2.83;-2.78;-3.2	5.16	4.33	0.51752	.	0.141721	0.49916	D	0.000130	D	0.85948	0.5816	L	0.27053	0.805	0.43255	D	0.995187	B;B	0.33883	0.214;0.43	B;B	0.33799	0.087;0.17	T	0.80910	-0.1171	9	.	.	.	.	6.5549	0.22454	0.1546:0.0:0.6908:0.1546	.	411;411	B0ZBF5;B0ZBF6	.;.	V	411	ENSP00000341390:L411V;ENSP00000347441:L411V;ENSP00000350815:L411V;ENSP00000423510:L411V;ENSP00000343907:L411V;ENSP00000421481:L411V	.	L	-	1	2	NR3C2	149576232	1.000000	0.71417	0.995000	0.50966	0.968000	0.65278	1.814000	0.38972	1.311000	0.45024	-0.137000	0.14449	CTA		0.403	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			8	110	0	0	0	1	0	8	110				
PTGFRN	5738	broad.mit.edu	37	1	117527432	117527432	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:117527432C>T	ENST00000393203.2	+	8	2445	c.2298C>T	c.(2296-2298)ctC>ctT	p.L766L		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	766	Ig-like C2-type 6.				lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		AGAGCGACCTCAGCCTGGAGC	0.592																																						ENST00000393203.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(2296-2298)ctC>ctT		prostaglandin F2 receptor inhibitor							217.0	169.0	185.0					1																	117527432		2203	4300	6503	SO:0001819	synonymous_variant	5738					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding	g.chr1:117527432C>T	AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9601	protein-coding gene	gene with protein product		601204	"""prostaglandin F2 receptor negative regulator"""			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.2298C>T	1.37:g.117527432C>T							p.L766L	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)	8	2445	+	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)	766			Ig-like C2-type 6.		Q5VVU9|Q8N2K6	Silent	SNP	ENST00000393203.2	37	c.2298C>T	CCDS890.1																																																																																				0.592	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033271.1	NM_020440		65	107	0	0	0	1	0	65	107				
WWC2	80014	broad.mit.edu	37	4	184210761	184210761	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:184210761G>C	ENST00000403733.3	+	21	3556	c.3357G>C	c.(3355-3357)caG>caC	p.Q1119H	WWC2_ENST00000504005.1_Missense_Mutation_p.Q801H|WWC2_ENST00000448232.2_Missense_Mutation_p.Q1143H|WWC2_ENST00000513834.1_Missense_Mutation_p.Q1070H|WWC2_ENST00000508747.1_Missense_Mutation_p.Q247H	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	1119					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		AGAGGTTCCAGAGGCTTCTGA	0.557																																						ENST00000403733.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32						c.(3355-3357)caG>caC		WW and C2 domain containing 2							58.0	59.0	59.0					4																	184210761		2203	4300	6503	SO:0001583	missense	80014							g.chr4:184210761G>C	BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"""WW, C2 and coiled-coil domain containing"""	24148	protein-coding gene	gene with protein product			"""WW, C2 and coiled-coil domain containing 2"""			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685	ENST00000403733.3:c.3357G>C	4.37:g.184210761G>C	ENSP00000384222:p.Gln1119His					WWC2_ENST00000504005.1_Missense_Mutation_p.Q801H|WWC2_ENST00000448232.2_Missense_Mutation_p.Q1143H|WWC2_ENST00000513834.1_Missense_Mutation_p.Q1070H|WWC2_ENST00000508747.1_Missense_Mutation_p.Q247H	p.Q1119H	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)	21	3556	+		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)	1119					Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	Missense_Mutation	SNP	ENST00000403733.3	37	c.3357G>C	CCDS34109.2	.	.	.	.	.	.	.	.	.	.	G	15.72	2.917787	0.52546	.	.	ENSG00000151718	ENST00000403733;ENST00000513834;ENST00000448232;ENST00000504005;ENST00000508747	T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97	5.27	4.43	0.53597	.	0.000000	0.64402	D	0.000010	T	0.61862	0.2381	M	0.74881	2.28	0.80722	D	1	D;D;D;D	0.76494	0.999;0.997;0.999;0.999	D;D;D;D	0.81914	0.995;0.959;0.98;0.98	T	0.65763	-0.6089	10	0.87932	D	0	-21.2179	10.8303	0.46656	0.1495:0.0:0.8505:0.0	.	1143;1119;247;1070	Q6AWC2-6;Q6AWC2;Q6AWC2-7;Q6AWC2-4	.;WWC2_HUMAN;.;.	H	1119;1070;1143;801;247	ENSP00000384222:Q1119H;ENSP00000425054:Q1070H;ENSP00000398577:Q1143H;ENSP00000427569:Q801H;ENSP00000420835:Q247H	ENSP00000384222:Q1119H	Q	+	3	2	WWC2	184447755	0.998000	0.40836	1.000000	0.80357	0.670000	0.39368	0.439000	0.21575	1.453000	0.47775	0.655000	0.94253	CAG		0.557	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319608.1	NM_024949		40	64	0	0	0	1	0	40	64				
NCKAP5	344148	broad.mit.edu	37	2	133542579	133542579	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:133542579G>A	ENST00000409261.1	-	14	2178	c.1805C>T	c.(1804-1806)tCa>tTa	p.S602L	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.S602L|NCKAP5_ENST00000473859.1_5'Flank	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	602										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						TGACACGTCTGAAGGACTTTT	0.507																																						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.(1804-1806)tCa>tTa		NCK-associated protein 5							70.0	71.0	71.0					2																	133542579		1968	4159	6127	SO:0001583	missense	344148						protein binding	g.chr2:133542579G>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.1805C>T	2.37:g.133542579G>A	ENSP00000387128:p.Ser602Leu					NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.S602L|NCKAP5_ENST00000409213.1_Intron	p.S602L	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN			14	2178	-			602					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.1805C>T	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	g	20.1	3.933624	0.73442	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.46819	0.86;0.86	5.64	5.64	0.86602	.	0.000000	0.29410	U	0.012230	T	0.59155	0.2173	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.68039	0.955	T	0.59925	-0.7362	10	0.87932	D	0	.	18.0682	0.89397	0.0:0.0:1.0:0.0	.	602	O14513	NCKP5_HUMAN	L	602	ENSP00000387128:S602L;ENSP00000380603:S602L	ENSP00000380603:S602L	S	-	2	0	NCKAP5	133259049	1.000000	0.71417	0.991000	0.47740	0.909000	0.53808	3.990000	0.56965	2.937000	0.99478	0.651000	0.88453	TCA		0.507	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		4	66	0	0	0	1	0	4	66				
PHF14	9678	broad.mit.edu	37	7	11209061	11209061	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr7:11209061G>A	ENST00000445996.2	+	17	2455	c.1936G>A	c.(1936-1938)Gaa>Aaa	p.E646K	PHF14_ENST00000469407.1_3'UTR			O94880	PHF14_HUMAN	PHD finger protein 14	639					lung alveolus development (GO:0048286)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		AAATGAAGCTGAAAGAAAAAA	0.274																																						ENST00000445996.2																			0				NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35						c.(1936-1938)Gaa>Aaa		PHD finger protein 14							24.0	23.0	23.0					7																	11209061		1780	4020	5800	SO:0001583	missense	9678						zinc ion binding	g.chr7:11209061G>A	AB018326	CCDS47542.1	7p21.3	2013-01-28			ENSG00000106443	ENSG00000106443		"""Zinc fingers, PHD-type"""	22203	protein-coding gene	gene with protein product						9872452	Standard	NM_014660		Approved	KIAA0783	uc003sry.2	O94880	OTTHUMG00000150463	ENST00000445996.2:c.1936G>A	7.37:g.11209061G>A	ENSP00000403907:p.Glu646Lys					PHF14_ENST00000469407.1_3'UTR	p.E646K			O94880	PHF14_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.205)	17	2455	+			789					A7MCZ3|B4DI82	Missense_Mutation	SNP	ENST00000445996.2	37	c.1936G>A		.	.	.	.	.	.	.	.	.	.	G	14.33	2.503006	0.44558	.	.	ENSG00000106443	ENST00000445996	T	0.70164	-0.46	6.17	6.17	0.99709	.	0.273740	0.34555	N	0.003873	T	0.50820	0.1638	.	.	.	0.39550	D	0.968953	B;P	0.43750	0.135;0.816	B;B	0.36464	0.06;0.225	T	0.51942	-0.8641	9	0.09590	T	0.72	.	19.0599	0.93085	0.0:0.0:1.0:0.0	.	646;931	O94880-2;A8MSQ1	.;.	K	646	ENSP00000403907:E646K	ENSP00000403907:E646K	E	+	1	0	PHF14	11175586	0.998000	0.40836	0.996000	0.52242	0.949000	0.60115	2.496000	0.45346	2.941000	0.99782	0.655000	0.94253	GAA		0.274	PHF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014660		8	13	0	0	0	1	0	8	13				
OR56A3	390083	broad.mit.edu	37	11	5969316	5969316	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:5969316C>T	ENST00000329564.6	+	1	747	c.740C>T	c.(739-741)tCc>tTc	p.S247F		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	247						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACATGTGGCTCCCACTTCATG	0.522																																						ENST00000329564.6																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(739-741)tCc>tTc		olfactory receptor, family 56, subfamily A, member 3							241.0	231.0	235.0					11																	5969316		2192	4295	6487	SO:0001583	missense	390083				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5969316C>T		CCDS41614.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184478	ENSG00000184478		"""GPCR / Class A : Olfactory receptors"""	14786	protein-coding gene	gene with protein product				OR56A6, OR56A3P			Standard	NM_001003443		Approved		uc010qzt.2	Q8NH54	OTTHUMG00000165373	ENST00000329564.6:c.740C>T	11.37:g.5969316C>T	ENSP00000331572:p.Ser247Phe						p.S247F	NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	747	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	247					A6NN77|Q6IFF7	Missense_Mutation	SNP	ENST00000329564.6	37	c.740C>T	CCDS41614.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.137717	0.77775	.	.	ENSG00000184478	ENST00000329564	T	0.39056	1.1	5.13	5.13	0.70059	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000022	T	0.76147	0.3947	H	0.96111	3.77	0.48040	D	0.999576	D	0.89917	1.0	D	0.97110	1.0	D	0.84121	0.0406	10	0.87932	D	0	-44.2321	17.393	0.87437	0.0:1.0:0.0:0.0	.	247	Q8NH54	O56A3_HUMAN	F	247	ENSP00000331572:S247F	ENSP00000331572:S247F	S	+	2	0	OR56A3	5925892	0.675000	0.27558	1.000000	0.80357	0.806000	0.45545	6.991000	0.76232	2.687000	0.91594	0.650000	0.86243	TCC		0.522	OR56A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383753.1	NM_001003443		116	155	0	0	0	1	0	116	155				
GPAT2	150763	broad.mit.edu	37	2	96690236	96690236	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:96690236G>A	ENST00000434632.1	-	16	2067	c.1608C>T	c.(1606-1608)ctC>ctT	p.L536L	FAHD2CP_ENST00000607780.1_RNA|GPAT2_ENST00000359548.4_Silent_p.L536L|GPAT2_ENST00000453542.1_Silent_p.L465L|GPAT2_ENST00000377137.3_Silent_p.L536L			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	536					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerol-3-phosphate metabolic process (GO:0006072)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						CCAGGTGTGTGAGGCCTGGGC	0.667																																						ENST00000434632.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						c.(1606-1608)ctC>ctT		glycerol-3-phosphate acyltransferase 2, mitochondrial							53.0	59.0	57.0					2																	96690236		2157	4237	6394	SO:0001819	synonymous_variant	150763				glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr2:96690236G>A	BC042847	CCDS42714.1	2q11.2	2010-05-04			ENSG00000186281	ENSG00000186281			27168	protein-coding gene	gene with protein product	"""cancer/testis antigen 123"""					12477932	Standard	NM_207328		Approved	CT123	uc010yuf.1	Q6NUI2	OTTHUMG00000155208	ENST00000434632.1:c.1608C>T	2.37:g.96690236G>A						GPAT2_ENST00000453542.1_Silent_p.L465L|GPAT2_ENST00000377137.3_Silent_p.L536L|GPAT2_ENST00000359548.4_Silent_p.L536L	p.L536L			Q6NUI2	GPAT2_HUMAN			16	2067	-			536					Q6P2E4|Q6ZNI3|Q6ZNI5|Q6ZWJ4	Silent	SNP	ENST00000434632.1	37	c.1608C>T	CCDS42714.1																																																																																				0.667	GPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338786.1	NM_207328		50	92	0	0	0	1	0	50	92				
HIST1H2AE	3012	broad.mit.edu	37	6	26217594	26217594	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:26217594G>A	ENST00000303910.2	+	1	430	c.392G>A	c.(391-393)tGa>tAa	p.*131*	HIST1H2BG_ENST00000244601.3_5'Flank	NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	0						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				AAGGGCAAGTGAAATGATTAC	0.527																																						ENST00000303910.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10						c.(391-393)tGa>tAa		histone cluster 1, H2ae							44.0	45.0	44.0					6																	26217594		2203	4299	6502	SO:0001819	synonymous_variant	3012				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26217594G>A	M60752	CCDS4595.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000168274	ENSG00000277075		"""Histones / Replication-dependent"""	4724	protein-coding gene	gene with protein product		602786	"""H2A histone family, member A"", ""histone 1, H2ae"""	H2AFA		9119399, 1916825, 12408966	Standard	NM_021052		Approved	H2A/a, H2A.1	uc003nha.1	P04908	OTTHUMG00000014440	ENST00000303910.2:c.392G>A	6.37:g.26217594G>A							p.*131*	NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN			1	430	+		all_hematologic(11;0.196)	0					P28001|Q76P63	Silent	SNP	ENST00000303910.2	37	c.392G>A	CCDS4595.1																																																																																				0.527	HIST1H2AE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040103.1	NM_021052		17	50	0	0	0	1	0	17	50				
COL12A1	1303	broad.mit.edu	37	6	75818864	75818864	+	Nonsense_Mutation	SNP	G	G	C	rs375966663		TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:75818864G>C	ENST00000322507.8	-	52	8279	c.7970C>G	c.(7969-7971)tCa>tGa	p.S2657*	COL12A1_ENST00000483888.2_Nonsense_Mutation_p.S2657*|COL12A1_ENST00000345356.6_Nonsense_Mutation_p.S1493*|COL12A1_ENST00000416123.2_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2657	Laminin G-like.|Nonhelical region (NC3).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AACACTTTTTGAGGTCACTAC	0.274																																						ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(7969-7971)tCa>tGa		collagen, type XII, alpha 1							62.0	57.0	58.0					6																	75818864		1792	4066	5858	SO:0001587	stop_gained	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75818864G>C	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.7970C>G	6.37:g.75818864G>C	ENSP00000325146:p.Ser2657*					COL12A1_ENST00000345356.6_Nonsense_Mutation_p.S1493*|COL12A1_ENST00000416123.2_Intron|COL12A1_ENST00000483888.2_Nonsense_Mutation_p.S2657*	p.S2657*	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			52	8279	-			2657			Nonhelical region (NC3).|TSP N-terminal.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Nonsense_Mutation	SNP	ENST00000322507.8	37	c.7970C>G	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	G	51	17.829555	0.99894	.	.	ENSG00000111799	ENST00000322507;ENST00000425443;ENST00000345356;ENST00000483888	.	.	.	5.75	5.75	0.90469	.	0.206543	0.43260	D	0.000584	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	19.9468	0.97185	0.0:0.0:1.0:0.0	.	.	.	.	X	2657;295;1493;2657	.	ENSP00000325146:S2657X	S	-	2	0	COL12A1	75875584	1.000000	0.71417	0.996000	0.52242	0.671000	0.39405	9.209000	0.95087	2.714000	0.92807	0.650000	0.86243	TCA		0.274	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		24	23	0	0	0	1	0	24	23				
SPATA31A6	389730	broad.mit.edu	37	9	43627758	43627758	+	Missense_Mutation	SNP	C	C	T	rs200771177	byFrequency	TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:43627758C>T	ENST00000332857.6	-	4	957	c.929G>A	c.(928-930)tGt>tAt	p.C310Y	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	310					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TTCCATCTGACAGGTCTCTGG	0.537													C|||	15	0.00299521	0.0	0.0043	5008	,	,		14600	0.002		0.004	False		,,,				2504	0.0061					ENST00000332857.6																			0											c.(928-930)tGt>tAt		SPATA31 subfamily A, member 6							1.0	1.0	1.0					9																	43627758		313	930	1243	SO:0001583	missense	389730							g.chr9:43627758C>T		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.929G>A	9.37:g.43627758C>T	ENSP00000329825:p.Cys310Tyr						p.C310Y	NM_001145196.1	NP_001138668.1					4	957	-									Missense_Mutation	SNP	ENST00000332857.6	37	c.929G>A	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.277648	0.00254	.	.	ENSG00000185775	ENST00000332857	T	0.03635	3.86	1.91	0.992	0.19819	.	3.231580	0.01630	N	0.023486	T	0.01661	0.0053	N	0.14661	0.345	0.09310	N	1	P	0.43788	0.817	B	0.26693	0.072	T	0.42155	-0.9468	10	0.02654	T	1	.	4.3835	0.11305	0.0:0.7957:0.0:0.2043	.	310	Q5VVP1	F75A6_HUMAN	Y	310	ENSP00000329825:C310Y	ENSP00000329825:C310Y	C	-	2	0	FAM75A6	43567754	0.001000	0.12720	0.003000	0.11579	0.018000	0.09664	0.183000	0.16919	0.371000	0.24564	0.449000	0.29647	TGT		0.537	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		6	177	0	0	0	1	0	6	177				
RP11-159L20.2	0	broad.mit.edu	37	14	31291049	31291049	+	RNA	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr14:31291049G>C	ENST00000554665.1	-	0	208																											TGCAGTTTTAGAGGCTTTGTT	0.343																																						ENST00000554665.1																			0																																																			0							g.chr14:31291049G>C																													14.37:g.31291049G>C														0	208	-									RNA	SNP	ENST00000554665.1	37																																																																																						0.343	RP11-159L20.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000409699.1			3	25	0	0	0	1	0	3	25				
LRRC37B	114659	broad.mit.edu	37	17	30349810	30349810	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr17:30349810G>C	ENST00000341671.7	+	1	1650	c.1645G>C	c.(1645-1647)Gag>Cag	p.E549Q	LRRC37B_ENST00000327564.7_Missense_Mutation_p.E576Q|LRRC37B_ENST00000584368.1_Missense_Mutation_p.E561Q|LRRC37B_ENST00000394713.3_Missense_Mutation_p.E549Q|LRRC37B_ENST00000581786.1_3'UTR|LRRC37B_ENST00000543378.2_Missense_Mutation_p.E467Q	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	549						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				GCCTGTGCCAGAGCCCGACAC	0.537																																						ENST00000327564.7																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29						c.(1726-1728)Gag>Cag		leucine rich repeat containing 37B							88.0	92.0	90.0					17																	30349810		2200	4297	6497	SO:0001583	missense	114659					integral to membrane		g.chr17:30349810G>C	AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"""KIAA0563-related"""					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.1645G>C	17.37:g.30349810G>C	ENSP00000340519:p.Glu549Gln					LRRC37B_ENST00000543378.2_Missense_Mutation_p.E467Q|LRRC37B_ENST00000341671.7_Missense_Mutation_p.E549Q|LRRC37B_ENST00000394713.3_Missense_Mutation_p.E549Q|LRRC37B_ENST00000581786.1_3'UTR|LRRC37B_ENST00000584368.1_Missense_Mutation_p.E561Q	p.E576Q			Q96QE4	LR37B_HUMAN			1	1787	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)	549					Q17RC9|Q5YKG6	Missense_Mutation	SNP	ENST00000341671.7	37	c.1726G>C	CCDS32609.1	.	.	.	.	.	.	.	.	.	.	N	12.78	2.039239	0.35989	.	.	ENSG00000185158	ENST00000543378;ENST00000327564;ENST00000394713;ENST00000341671	T;T;T;T	0.66638	-0.16;-0.22;0.87;-0.21	1.79	1.79	0.24919	.	.	.	.	.	T	0.71082	0.3298	M	0.65498	2.005	0.09310	N	1	D;P	0.60575	0.988;0.813	P;B	0.58577	0.841;0.106	T	0.58070	-0.7701	9	0.22109	T	0.4	.	7.0848	0.25252	0.0:0.0:1.0:0.0	.	549;549	Q17RC9;Q96QE4	.;LR37B_HUMAN	Q	467;576;549;549	ENSP00000443345:E467Q;ENSP00000332536:E576Q;ENSP00000378202:E549Q;ENSP00000340519:E549Q	ENSP00000332536:E576Q	E	+	1	0	LRRC37B	27373923	0.008000	0.16893	0.167000	0.22817	0.040000	0.13550	1.118000	0.31246	1.312000	0.45043	0.299000	0.19835	GAG		0.537	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446508.1	NM_052888		79	118	0	0	0	1	0	79	118				
TJP1	7082	broad.mit.edu	37	15	30092859	30092859	+	Missense_Mutation	SNP	G	G	A	rs375824999		TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr15:30092859G>A	ENST00000346128.6	-	2	548	c.74C>T	c.(73-75)aCg>aTg	p.T25M	TJP1_ENST00000495972.2_Missense_Mutation_p.T25M|TJP1_ENST00000400011.2_Missense_Mutation_p.T29M|TJP1_ENST00000545208.2_Missense_Mutation_p.T25M|TJP1_ENST00000356107.6_Missense_Mutation_p.T25M	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	25	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		CCTGTGAAGCGTCACTGTATG	0.383																																					Melanoma(77;681 1843 6309 6570)	ENST00000346128.6																			0				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68						c.(73-75)aCg>aTg		tight junction protein 1		G	MET/THR,MET/THR	0,3856		0,0,1928	198.0	179.0	185.0		74,74	5.8	1.0	15		185	1,8275		0,1,4137	no	missense,missense	TJP1	NM_003257.3,NM_175610.2	81,81	0,1,6065	AA,AG,GG		0.0121,0.0,0.0082	probably-damaging,probably-damaging	25/1749,25/1669	30092859	1,12131	1928	4138	6066	SO:0001583	missense	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:30092859G>A		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.74C>T	15.37:g.30092859G>A	ENSP00000281537:p.Thr25Met					TJP1_ENST00000356107.6_Missense_Mutation_p.T25M|TJP1_ENST00000495972.2_Missense_Mutation_p.T25M|TJP1_ENST00000545208.2_Missense_Mutation_p.T25M|TJP1_ENST00000400011.2_Missense_Mutation_p.T29M	p.T25M	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	2	548	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	25			PDZ 1.		B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	37	c.74C>T	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550785	0.86127	0.0	1.21E-4	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.76	5.76	0.90799	PDZ/DHR/GLGF (3);	0.000000	0.85682	D	0.000000	T	0.66877	0.2834	M	0.91406	3.205	0.80722	D	1	D;D;D;D	0.89917	0.997;0.997;0.997;1.0	P;P;P;D	0.87578	0.908;0.852;0.908;0.998	T	0.72168	-0.4372	9	.	.	.	.	20.3242	0.98691	0.0:0.0:1.0:0.0	.	18;25;25;29	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	M	25;29;25;25;25	ENSP00000281537:T25M;ENSP00000382890:T29M;ENSP00000441202:T25M;ENSP00000348416:T25M	.	T	-	2	0	TJP1	27880151	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	8.137000	0.89612	2.882000	0.98803	0.655000	0.94253	ACG		0.383	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		26	48	0	0	0	1	0	26	48				
MICAL3	57553	broad.mit.edu	37	22	18293498	18293498	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr22:18293498C>G	ENST00000441493.2	-	28	5879	c.5527G>C	c.(5527-5529)Gag>Cag	p.E1843Q	MICAL3_ENST00000580469.1_5'UTR|XXbac-B461K10.4_ENST00000476405.1_RNA	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1843					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TTAAGCTCCTCCTGCTTGGCC	0.582																																						ENST00000441493.2																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.(5527-5529)Gag>Cag		microtubule associated monooxygenase, calponin and LIM domain containing 3							87.0	93.0	91.0					22																	18293498		2185	4280	6465	SO:0001583	missense	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18293498C>G	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.5527G>C	22.37:g.18293498C>G	ENSP00000416015:p.Glu1843Gln					MICAL3_ENST00000580469.1_5'UTR|XXbac-B461K10.4_ENST00000476405.1_RNA	p.E1843Q	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	28	5879	-		all_epithelial(15;0.198)	1843					B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	ENST00000441493.2	37	c.5527G>C	CCDS46659.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.62|15.62	2.886913|2.886913	0.52014|0.52014	.|.	.|.	ENSG00000093100|ENSG00000093100	ENST00000441493|ENST00000252134	T|.	0.65364|.	-0.15|.	4.81|4.81	4.81|4.81	0.61882|0.61882	.|.	0.132141|.	0.52532|.	D|.	0.000076|.	T|T	0.58694|0.58694	0.2140|0.2140	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	D|.	0.71674|.	0.998|.	D|.	0.77557|.	0.99|.	T|T	0.55335|0.55335	-0.8157|-0.8157	10|5	0.66056|.	D|.	0.02|.	.|.	17.8904|17.8904	0.88870|0.88870	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1843|.	Q7RTP6|.	MICA3_HUMAN|.	Q|S	1843|824	ENSP00000416015:E1843Q|.	ENSP00000416015:E1843Q|.	E|R	-|-	1|3	0|2	XXbac-B461K10.4|XXbac-B461K10.4	16673498|16673498	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.973000|0.973000	0.67179|0.67179	7.818000|7.818000	0.86416|0.86416	2.215000|2.215000	0.71742|0.71742	0.462000|0.462000	0.41574|0.41574	GAG|AGG		0.582	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			37	51	0	0	0	1	0	37	51				
ADAMTSL4	54507	broad.mit.edu	37	1	150529627	150529627	+	Splice_Site	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:150529627G>C	ENST00000369038.2	+	10	2064	c.1863G>C	c.(1861-1863)gaG>gaC	p.E621D	ADAMTSL4_ENST00000271643.4_Splice_Site_p.E621D|ADAMTSL4_ENST00000369041.5_Splice_Site_p.E621D|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369039.5_Splice_Site_p.E644D			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	621	Pro-rich. {ECO:0000255}.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CCTGCACAGAGATTCTGAGGG	0.692																																						ENST00000271643.4																			0				breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32						c.e12-1		ADAMTS-like 4							20.0	25.0	23.0					1																	150529627		2194	4292	6486	SO:0001630	splice_region_variant	54507				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	g.chr1:150529627G>C	BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.1862-1G>C	1.37:g.150529627G>C						ADAMTSL4_ENST00000369041.5_Splice_Site_p.E621_splice|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369038.2_Splice_Site_p.E621_splice|ADAMTSL4_ENST00000369039.5_Splice_Site_p.E644_splice	p.E621_splice	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		12	2099	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		621			Pro-rich.		B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Splice_Site	SNP	ENST00000369038.2	37	c.1861_splice	CCDS955.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.606336	0.46527	.	.	ENSG00000143382	ENST00000369041;ENST00000271643;ENST00000407995;ENST00000369039;ENST00000369038	T;T;T;T	0.63913	0.03;-0.07;0.22;-0.07	5.05	4.14	0.48551	.	.	.	.	.	T	0.28101	0.0693	L	0.38531	1.155	0.28640	N	0.907212	P;B;B	0.36249	0.545;0.255;0.372	B;B;B	0.35770	0.098;0.104;0.21	T	0.06625	-1.0816	9	0.13470	T	0.59	.	9.2818	0.37733	0.097:0.0:0.903:0.0	.	644;621;621	F8WAD0;Q6UY14;Q6UY14-2	.;ATL4_HUMAN;.	D	621;621;159;644;621	ENSP00000358037:E621D;ENSP00000271643:E621D;ENSP00000358035:E644D;ENSP00000358034:E621D	ENSP00000271643:E621D	E	+	3	2	ADAMTSL4	148796251	0.993000	0.37304	0.998000	0.56505	0.976000	0.68499	1.054000	0.30455	1.366000	0.46076	0.655000	0.94253	GAG		0.692	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032	Missense_Mutation	9	75	0	0	0	1	0	9	75				
LAMA5	3911	broad.mit.edu	37	20	60886121	60886121	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr20:60886121C>T	ENST00000252999.3	-	74	10184	c.10118G>A	c.(10117-10119)cGa>cAa	p.R3373Q	LAMA5_ENST00000492698.1_5'Flank	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3373	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			TCGGGAGCTTCGCGGGAGGAC	0.682																																						ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(10117-10119)cGa>cAa		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						19.0	20.0	20.0					20																	60886121		2192	4289	6481	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60886121C>T	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.10118G>A	20.37:g.60886121C>T	ENSP00000252999:p.Arg3373Gln						p.R3373Q	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		74	10184	-	Breast(26;1.57e-08)		3373			Laminin G-like 4.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.10118G>A	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	c	13.35	2.211889	0.39102	.	.	ENSG00000130702	ENST00000252999	T	0.78707	-1.2	4.69	-9.39	0.00619	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.679611	0.13892	N	0.355574	T	0.57417	0.2052	L	0.46157	1.445	0.09310	N	0.999999	B	0.25743	0.133	B	0.19946	0.027	T	0.34601	-0.9822	10	0.23302	T	0.38	.	4.3508	0.11155	0.0961:0.1455:0.1901:0.5683	.	3373	O15230	LAMA5_HUMAN	Q	3373	ENSP00000252999:R3373Q	ENSP00000252999:R3373Q	R	-	2	0	LAMA5	60319516	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-4.279000	0.00261	-2.579000	0.00463	-0.348000	0.07805	CGA		0.682	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		18	25	0	0	0	1	0	18	25				
ABTB2	25841	broad.mit.edu	37	11	34175833	34175833	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:34175833C>T	ENST00000435224.2	-	16	3283	c.2859G>A	c.(2857-2859)gtG>gtA	p.V953V	ABTB2_ENST00000298992.2_Silent_p.V767V	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	953					cellular response to toxic substance (GO:0097237)	nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				TGTAGGTGTTCACGGCACTCT	0.632																																						ENST00000435224.2																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(2857-2859)gtG>gtA		ankyrin repeat and BTB (POZ) domain containing 2							113.0	80.0	91.0					11																	34175833		2202	4298	6500	SO:0001819	synonymous_variant	25841						DNA binding	g.chr11:34175833C>T	AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.2859G>A	11.37:g.34175833C>T						ABTB2_ENST00000298992.2_Silent_p.V767V	p.V953V	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN			16	3283	-		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)	767					A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Silent	SNP	ENST00000435224.2	37	c.2859G>A	CCDS7890.2																																																																																				0.632	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388703.3	NM_145804		8	106	0	0	0	1	0	8	106				
ZNF300	91975	broad.mit.edu	37	5	150276386	150276386	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr5:150276386C>G	ENST00000274599.5	-	6	835	c.415G>C	c.(415-417)Gag>Cag	p.E139Q	ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000394226.2_Missense_Mutation_p.E139Q|ZNF300_ENST00000446148.2_Missense_Mutation_p.E155Q|ZNF300_ENST00000418587.2_Missense_Mutation_p.E103Q	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	139					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)			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCTTGATTCTCTAGAAATCTC	0.403																																						ENST00000446148.2																			0				endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27						c.(463-465)Gag>Cag		zinc finger protein 300							118.0	116.0	117.0					5																	150276386		2201	4300	6501	SO:0001583	missense	91975				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:150276386C>G	AF395541	CCDS4311.2, CCDS54939.1, CCDS54940.1	5q33.1	2013-01-08			ENSG00000145908	ENSG00000145908		"""Zinc fingers, C2H2-type"", ""-"""	13091	protein-coding gene	gene with protein product		612429				14746915	Standard	NM_052860		Approved		uc021yfx.1	Q96RE9	OTTHUMG00000130076	ENST00000274599.5:c.415G>C	5.37:g.150276386C>G	ENSP00000274599:p.Glu139Gln					ZNF300_ENST00000394226.2_Missense_Mutation_p.E139Q|ZNF300_ENST00000418587.2_Missense_Mutation_p.E103Q|ZNF300_ENST00000274599.5_Missense_Mutation_p.E139Q|ZNF300_ENST00000427179.1_3'UTR	p.E155Q	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	890	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	139					A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	Missense_Mutation	SNP	ENST00000274599.5	37	c.463G>C	CCDS4311.2	.	.	.	.	.	.	.	.	.	.	C	0.677	-0.799696	0.02841	.	.	ENSG00000145908	ENST00000446148;ENST00000274599;ENST00000418587;ENST00000394226	T;T;T;T	0.08896	3.12;3.12;3.04;3.12	2.71	1.8	0.24995	.	.	.	.	.	T	0.06280	0.0162	L	0.38175	1.15	0.09310	N	0.999991	B	0.24186	0.099	B	0.22601	0.04	T	0.43393	-0.9394	9	0.14252	T	0.57	.	7.1532	0.25622	0.0:0.8483:0.0:0.1517	.	139	Q96RE9	ZN300_HUMAN	Q	155;139;103;139	ENSP00000397178:E155Q;ENSP00000274599:E139Q;ENSP00000392593:E103Q;ENSP00000377773:E139Q	ENSP00000274599:E139Q	E	-	1	0	ZNF300	150256579	0.000000	0.05858	0.066000	0.19879	0.018000	0.09664	-0.123000	0.10611	0.669000	0.31146	0.557000	0.71058	GAG		0.403	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_052860		44	48	0	0	0	1	0	44	48				
UBAP2	55833	broad.mit.edu	37	9	33933498	33933498	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:33933498G>A	ENST00000379238.1	-	18	2215	c.2098C>T	c.(2098-2100)Cag>Tag	p.Q700*	UBAP2_ENST00000379239.4_Nonsense_Mutation_p.Q433*|UBAP2_ENST00000539807.1_Nonsense_Mutation_p.Q455*|UBAP2_ENST00000449054.1_Nonsense_Mutation_p.Q700*|SNORD121B_ENST00000458838.1_RNA|UBAP2_ENST00000418786.2_Nonsense_Mutation_p.Q647*|UBAP2_ENST00000360802.1_Nonsense_Mutation_p.Q700*					ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		CTGCTAAGCTGAGAGAGAGGG	0.587																																						ENST00000379238.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32						c.(2098-2100)Cag>Tag		ubiquitin associated protein 2							80.0	67.0	71.0					9																	33933498		2203	4300	6503	SO:0001587	stop_gained	55833							g.chr9:33933498G>A	AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.2098C>T	9.37:g.33933498G>A	ENSP00000368540:p.Gln700*					UBAP2_ENST00000449054.1_Nonsense_Mutation_p.Q700*|UBAP2_ENST00000379239.4_Nonsense_Mutation_p.Q433*|UBAP2_ENST00000418786.2_Nonsense_Mutation_p.Q647*|UBAP2_ENST00000539807.1_Nonsense_Mutation_p.Q455*|UBAP2_ENST00000360802.1_Nonsense_Mutation_p.Q700*	p.Q700*			Q5T6F2	UBAP2_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)	18	2215	-			700						Nonsense_Mutation	SNP	ENST00000379238.1	37	c.2098C>T	CCDS6547.1	.	.	.	.	.	.	.	.	.	.	G	38	6.734023	0.97796	.	.	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379239;ENST00000539807;ENST00000351580;ENST00000418786	.	.	.	5.54	5.54	0.83059	.	0.255720	0.41097	D	0.000951	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-7.015	19.4757	0.94987	0.0:0.0:1.0:0.0	.	.	.	.	X	700;700;700;609;433;455;136;647	.	ENSP00000259602:Q136X	Q	-	1	0	UBAP2	33923498	1.000000	0.71417	1.000000	0.80357	0.491000	0.33493	3.926000	0.56491	2.613000	0.88420	0.313000	0.20887	CAG		0.587	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1	NM_018449		22	37	0	0	0	1	0	22	37				
C1QTNF9B	387911	broad.mit.edu	37	13	24465587	24465587	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr13:24465587C>T	ENST00000382140.2	-	5	903	c.843G>A	c.(841-843)gtG>gtA	p.V281V	C1QTNF9B_ENST00000382137.3_Silent_p.V281V|C1QTNF9B-AS1_ENST00000382133.4_RNA|MIPEP_ENST00000382172.3_5'Flank|C1QTNF9B-AS1_ENST00000417034.1_RNA|MIPEP_ENST00000469167.1_5'Flank|C1QTNF9B_ENST00000556521.1_5'UTR|C1QTNF9B_ENST00000382145.1_3'UTR|C1QTNF9B-AS1_ENST00000435039.2_RNA			B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	281	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					collagen trimer (GO:0005581)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						CCTCAGAGCTCACGTAAGCAT	0.498																																						ENST00000382137.3																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						c.(841-843)gtG>gtA		C1q and tumor necrosis factor related protein 9B							119.0	105.0	110.0					13																	24465587		2183	4279	6462	SO:0001819	synonymous_variant	387911					collagen		g.chr13:24465587C>T	BC110413	CCDS31947.1	13q12.12	2011-05-08			ENSG00000205863	ENSG00000205863			34072	protein-coding gene	gene with protein product		614148				17544811	Standard	NM_001007537		Approved	CTRP9B	uc010tcv.1	B2RNN3	OTTHUMG00000016570	ENST00000382140.2:c.843G>A	13.37:g.24465587C>T						C1QTNF9B_ENST00000382145.1_3'UTR|C1QTNF9B_ENST00000556521.1_5'UTR|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B_ENST00000382140.2_Silent_p.V281V	p.V281V	NM_001007537.1	NP_001007538.1	B2RNN3	C1T9B_HUMAN			3	911	-			281			C1q.		A2A3T6|B9EH31|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Silent	SNP	ENST00000382140.2	37	c.843G>A	CCDS31947.1																																																																																				0.498	C1QTNF9B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044162.3	NM_001007537		11	59	0	0	0	1	0	11	59				
CGNL1	84952	broad.mit.edu	37	15	57730201	57730201	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr15:57730201G>A	ENST00000281282.5	+	2	82	c.4G>A	c.(4-6)Gag>Aag	p.E2K		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	2	Head.					myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GTGAACCATGGAGCTGTATTT	0.423																																						ENST00000281282.5																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60						c.(4-6)Gag>Aag		cingulin-like 1							243.0	258.0	253.0					15																	57730201		2192	4292	6484	SO:0001583	missense	84952					myosin complex|tight junction	motor activity	g.chr15:57730201G>A	AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.4G>A	15.37:g.57730201G>A	ENSP00000281282:p.Glu2Lys						p.E2K	NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN		all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)	2	82	+			2			Head.		Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	ENST00000281282.5	37	c.4G>A	CCDS10161.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.668887	0.88348	.	.	ENSG00000128849	ENST00000281282	D	0.81659	-1.52	4.71	4.71	0.59529	.	0.000000	0.43747	D	0.000523	D	0.87873	0.6287	L	0.60455	1.87	0.36920	D	0.891329	D	0.69078	0.997	D	0.75020	0.985	D	0.90962	0.4813	10	0.87932	D	0	-29.0948	17.8631	0.88787	0.0:0.0:1.0:0.0	.	2	Q0VF96	CGNL1_HUMAN	K	2	ENSP00000281282:E2K	ENSP00000281282:E2K	E	+	1	0	CGNL1	55517493	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.546000	0.73887	2.443000	0.82685	0.561000	0.74099	GAG		0.423	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866		156	287	0	0	0	1	0	156	287				
ERLIN2	11160	broad.mit.edu	37	8	37602323	37602323	+	Intron	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr8:37602323G>C	ENST00000276461.5	+	6	491				ERLIN2_ENST00000519638.1_Intron|ERLIN2_ENST00000335171.6_Intron|ERLIN2_ENST00000397228.2_Intron|ERLIN2_ENST00000523887.1_Missense_Mutation_p.G178A|ERLIN2_ENST00000523107.1_Missense_Mutation_p.G178A|ERLIN2_ENST00000518586.1_Missense_Mutation_p.G178A	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2						cell death (GO:0008219)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)				NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GTCACTTATGGACAGGAAATG	0.522																																						ENST00000518586.1																			0				NS(1)|large_intestine(1)|lung(5)	7						c.(532-534)gGa>gCa		ER lipid raft associated 2																																				SO:0001627	intron_variant	11160				ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding	g.chr8:37602323G>C	AY358108	CCDS6095.1, CCDS34879.1	8p11.2	2012-11-23	2007-01-26	2007-01-26	ENSG00000147475	ENSG00000147475			1356	protein-coding gene	gene with protein product		611605	"""chromosome 8 open reading frame 2"", ""SPFH domain family, member 2"""	C8orf2, SPFH2, Erlin-2		10449903, 15897872, 16835267	Standard	NM_007175		Approved	NET32, SPG18	uc003xke.4	O94905	OTTHUMG00000164005	ENST00000276461.5:c.424+109G>C	8.37:g.37602323G>C						ERLIN2_ENST00000519638.1_Intron|ERLIN2_ENST00000335171.6_Intron|ERLIN2_ENST00000397228.2_Intron|ERLIN2_ENST00000523887.1_Missense_Mutation_p.G178A|ERLIN2_ENST00000276461.5_Intron|ERLIN2_ENST00000523107.1_Missense_Mutation_p.G178A	p.G178A			O94905	ERLN2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		6	875	+		Lung NSC(58;0.174)	171			Interaction with ERLIN1.		A0JLQ1|A8K5S9|B4DM38|D3DSW0|Q6NW21|Q86VS6|Q86W49	Missense_Mutation	SNP	ENST00000276461.5	37	c.533G>C	CCDS6095.1	.	.	.	.	.	.	.	.	.	.	G	5.642	0.303147	0.10678	.	.	ENSG00000147475	ENST00000523887;ENST00000518586	T;T	0.66995	-0.24;-0.24	3.09	-0.446	0.12238	.	.	.	.	.	T	0.44623	0.1302	.	.	.	0.09310	N	1	B	0.13594	0.008	B	0.16289	0.015	T	0.20638	-1.0269	7	.	.	.	.	4.0046	0.09595	0.1451:0.0:0.2765:0.5783	.	178	O94905-3	.	A	178	ENSP00000429903:G178A;ENSP00000427847:G178A	.	G	+	2	0	ERLIN2	37721481	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	0.166000	0.16583	-0.245000	0.09625	0.460000	0.39030	GGA		0.522	ERLIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376712.2	NM_007175		11	12	0	0	0	1	0	11	12				
SACS	26278	broad.mit.edu	37	13	23929020	23929020	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr13:23929020G>A	ENST00000382292.3	-	7	2004	c.1731C>T	c.(1729-1731)ttC>ttT	p.F577F	SACS_ENST00000476776.1_5'UTR|SACS_ENST00000402364.1_5'UTR|SACS_ENST00000382298.3_Silent_p.F577F			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	577					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)		CAAGTTCTGAGAAGTACACCT	0.463																																						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.(1729-1731)ttC>ttT		spastic ataxia of Charlevoix-Saguenay (sacsin)							101.0	96.0	98.0					13																	23929020		2203	4300	6503	SO:0001819	synonymous_variant	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.chr13:23929020G>A	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.1731C>T	13.37:g.23929020G>A						SACS_ENST00000382292.3_Silent_p.F577F|SACS_ENST00000476776.1_5'UTR|SACS_ENST00000402364.1_5'UTR	p.F577F	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)	8	2319	-		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)	577					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP	ENST00000382292.3	37	c.1731C>T	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	G	7.964	0.747664	0.15710	.	.	ENSG00000151835	ENST00000455470	.	.	.	5.74	4.02	0.46733	.	.	.	.	.	T	0.61299	0.2336	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57751	-0.7757	4	.	.	.	.	10.4189	0.44338	0.2247:0.0:0.7753:0.0	.	.	.	.	F	477	.	.	L	-	1	0	SACS	22827020	1.000000	0.71417	0.973000	0.42090	0.900000	0.52787	3.703000	0.54808	0.904000	0.36572	0.561000	0.74099	CTC		0.463	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		45	88	0	0	0	1	0	45	88				
ZSCAN16	80345	broad.mit.edu	37	6	28097584	28097584	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:28097584C>T	ENST00000340487.4	+	4	1052	c.903C>T	c.(901-903)ttC>ttT	p.F301F	ZSCAN16-AS1_ENST00000602810.1_RNA|ZSCAN16-AS1_ENST00000600652.1_RNA	NM_025231.1	NP_079507.1	Q9H4T2	ZSC16_HUMAN	zinc finger and SCAN domain containing 16	301					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)			large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GGAAAGACTTCAGTGGGCGCA	0.448																																						ENST00000340487.4																			0				large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(901-903)ttC>ttT		zinc finger and SCAN domain containing 16							61.0	58.0	59.0					6																	28097584		2203	4300	6503	SO:0001819	synonymous_variant	80345				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28097584C>T	AK025844	CCDS4644.1	6p21.33	2013-01-08	2007-02-20	2007-02-20	ENSG00000196812	ENSG00000196812		"""-"", ""Zinc fingers, C2H2-type"""	20813	protein-coding gene	gene with protein product			"""zinc finger protein 392"", ""zinc finger protein 435"""	ZNF392, ZNF435			Standard	NM_025231		Approved	FLJ22191, dJ265C24.3	uc003nkm.3	Q9H4T2	OTTHUMG00000014509	ENST00000340487.4:c.903C>T	6.37:g.28097584C>T						RP1-265C24.9_ENST00000600652.1_RNA|RP1-265C24.9_ENST00000602810.1_RNA	p.F301F	NM_025231.1	NP_079507.1	Q9H4T2	ZSC16_HUMAN			4	1052	+			301					Q9H6K2	Silent	SNP	ENST00000340487.4	37	c.903C>T	CCDS4644.1																																																																																				0.448	ZSCAN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040177.1	NM_025231		25	53	0	0	0	1	0	25	53				
IRX1	79192	broad.mit.edu	37	5	3599488	3599488	+	Silent	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr5:3599488C>G	ENST00000302006.3	+	2	478	c.426C>G	c.(424-426)ctC>ctG	p.L142L	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	142					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CCAGCACGCTCAAGGCCTGGC	0.637																																						ENST00000302006.3																			0				biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(424-426)ctC>ctG		iroquois homeobox 1							122.0	99.0	107.0					5																	3599488		2203	4300	6503	SO:0001819	synonymous_variant	79192					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:3599488C>G	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.426C>G	5.37:g.3599488C>G						CTD-2012M11.3_ENST00000559410.1_RNA	p.L142L	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN			2	478	+			142					Q7Z2F8|Q8N312	Silent	SNP	ENST00000302006.3	37	c.426C>G	CCDS34132.1																																																																																				0.637	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337		39	63	0	0	0	1	0	39	63				
CLDN16	10686	broad.mit.edu	37	3	190106165	190106165	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:190106165C>T	ENST00000264734.2	+	1	505	c.257C>T	c.(256-258)tCt>tTt	p.S86F	CLDN16_ENST00000456423.1_Missense_Mutation_p.S86F|CLDN16_ENST00000468220.1_Intron	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	86					calcium-independent cell-cell adhesion (GO:0016338)|cellular metal ion homeostasis (GO:0006875)|excretion (GO:0007588)|magnesium ion transport (GO:0015693)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|structural molecule activity (GO:0005198)			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		GCCTTTTTCTCTGCTGGGTTT	0.502																																						ENST00000264734.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19						c.(256-258)tCt>tTt		claudin 16							309.0	279.0	289.0					3																	190106165		2203	4300	6503	SO:0001583	missense	10686				calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity	g.chr3:190106165C>T	AF152101	CCDS3296.1	3q28	2008-12-10			ENSG00000113946	ENSG00000113946		"""Claudins"""	2037	protein-coding gene	gene with protein product	"""paracellin-1"", ""hypomagnesemia 3, with hypercalciuria and nephrocalcinosis"""	603959				10390358	Standard	NM_006580		Approved	PCLN1, HOMG3	uc003fsi.3	Q9Y5I7	OTTHUMG00000156215	ENST00000264734.2:c.257C>T	3.37:g.190106165C>T	ENSP00000264734:p.Ser86Phe					CLDN16_ENST00000456423.1_Missense_Mutation_p.S86F|CLDN16_ENST00000468220.1_Intron	p.S86F	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)	1	505	+	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		86						Missense_Mutation	SNP	ENST00000264734.2	37	c.257C>T	CCDS3296.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.669248	0.67814	.	.	ENSG00000113946	ENST00000264734;ENST00000456423	D;D	0.94897	-2.47;-3.55	5.91	5.91	0.95273	.	0.000000	0.64402	D	0.000001	D	0.96962	0.9008	M	0.73598	2.24	0.46113	D	0.998877	D;D	0.89917	0.999;1.0	D;D	0.91635	0.943;0.999	D	0.97089	0.9789	10	0.87932	D	0	-4.0143	15.7957	0.78409	0.0:1.0:0.0:0.0	.	86;86	A0SDD8;Q9Y5I7	.;CLD16_HUMAN	F	86	ENSP00000264734:S86F;ENSP00000414136:S86F	ENSP00000264734:S86F	S	+	2	0	CLDN16	191588859	0.999000	0.42202	0.966000	0.40874	0.786000	0.44442	5.322000	0.65852	2.805000	0.96524	0.460000	0.39030	TCT		0.502	CLDN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343519.1	NM_006580		224	132	0	0	0	1	0	224	132				
CYP1B1	1545	broad.mit.edu	37	2	38302190	38302190	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:38302190G>A	ENST00000260630.3	-	2	743	c.342C>T	c.(340-342)ttC>ttT	p.F114F	CYP1B1_ENST00000494864.1_Intron|CYP1B1-AS1_ENST00000431999.1_RNA|CYP1B1-AS1_ENST00000589303.1_RNA|CYP1B1_ENST00000407341.1_Silent_p.F114F	NM_000104.3	NP_000095	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	114					angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|blood vessel morphogenesis (GO:0048514)|cell adhesion (GO:0007155)|cellular aromatic compound metabolic process (GO:0006725)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to organic cyclic compound (GO:0071407)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell-cell adhesion (GO:0071603)|epoxygenase P450 pathway (GO:0019373)|estrogen metabolic process (GO:0008210)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|membrane lipid catabolic process (GO:0046466)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nitric oxide biosynthetic process (GO:0006809)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to toxic substance (GO:0009636)|retinal blood vessel morphogenesis (GO:0061304)|retinal metabolic process (GO:0042574)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|toxin metabolic process (GO:0009404)|trabecular meshwork development (GO:0002930)|visual perception (GO:0007601)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Biotin(DB00121)|Caffeine(DB00201)|Clozapine(DB00363)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Flutamide(DB00499)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Melatonin(DB01065)|Mitoxantrone(DB01204)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Primaquine(DB01087)|Procarbazine(DB01168)|Progesterone(DB00396)|Propofol(DB00818)|Tamoxifen(DB00675)|Testosterone(DB00624)|Theophylline(DB00277)	GCCGGTCGGCGAAGGCCGAGC	0.697																																						ENST00000260630.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13						c.(340-342)ttC>ttT		cytochrome P450, family 1, subfamily B, polypeptide 1	Estrone(DB00655)						6.0	6.0	6.0					2																	38302190		2027	4034	6061	SO:0001819	synonymous_variant	1545				visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr2:38302190G>A	U56438	CCDS1793.1	2p22.2	2008-02-05	2003-01-14		ENSG00000138061	ENSG00000138061		"""Cytochrome P450s"""	2597	protein-coding gene	gene with protein product		601771	"""cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile)"""	GLC3A		8175734, 15128046	Standard	NM_000104		Approved	CP1B	uc002rqo.2	Q16678	OTTHUMG00000100970	ENST00000260630.3:c.342C>T	2.37:g.38302190G>A						CYP1B1_ENST00000494864.1_Intron|CYP1B1_ENST00000407341.1_Silent_p.F114F	p.F114F	NM_000104.3	NP_000095.2	Q16678	CP1B1_HUMAN			2	743	-		all_hematologic(82;0.21)	114					Q5TZW8|Q93089|Q9H316	Silent	SNP	ENST00000260630.3	37	c.342C>T	CCDS1793.1																																																																																				0.697	CYP1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218580.3	NM_000104		7	18	0	0	0	1	0	7	18				
SLC2A4	6517	broad.mit.edu	37	17	7187884	7187884	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr17:7187884G>C	ENST00000317370.8	+	7	1076	c.808G>C	c.(808-810)Gag>Cag	p.E270Q	SLC2A4_ENST00000571308.1_Missense_Mutation_p.E270Q|RP1-4G17.2_ENST00000576271.1_RNA|SLC2A4_ENST00000424875.2_Missense_Mutation_p.E260Q	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	270					amylopectin biosynthetic process (GO:0010021)|brown fat cell differentiation (GO:0050873)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|cellular response to osmotic stress (GO:0071470)|glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|membrane organization (GO:0061024)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|endomembrane system (GO:0012505)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|insulin-responsive compartment (GO:0032593)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|trans-Golgi network transport vesicle (GO:0030140)|vesicle membrane (GO:0012506)	D-glucose transmembrane transporter activity (GO:0055056)|glucose transmembrane transporter activity (GO:0005355)			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						GCTGGAGCGTGAGCGGCCACT	0.637																																						ENST00000317370.8																			0				breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						c.(808-810)Gag>Cag		solute carrier family 2 (facilitated glucose transporter), member 4							45.0	49.0	47.0					17																	7187884		2203	4300	6503	SO:0001583	missense	6517				carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding	g.chr17:7187884G>C	M20747	CCDS11097.1	17p13	2013-05-22			ENSG00000181856	ENSG00000181856		"""Solute carriers"""	11009	protein-coding gene	gene with protein product		138190		GLUT4			Standard	NM_001042		Approved		uc002gfp.3	P14672	OTTHUMG00000102181	ENST00000317370.8:c.808G>C	17.37:g.7187884G>C	ENSP00000320935:p.Glu270Gln					SLC2A4_ENST00000424875.2_Missense_Mutation_p.E260Q|SLC2A4_ENST00000571308.1_Missense_Mutation_p.E270Q	p.E270Q	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN			7	1076	+			270					Q05BQ3|Q14CX2	Missense_Mutation	SNP	ENST00000317370.8	37	c.808G>C	CCDS11097.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.388083	0.61956	.	.	ENSG00000181856	ENST00000317370;ENST00000424875	T;T	0.75154	-0.91;-0.91	4.73	3.74	0.42951	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.73505	0.3595	L	0.60957	1.885	0.50467	D	0.999871	P;P	0.42757	0.789;0.783	P;B	0.46419	0.516;0.142	T	0.71307	-0.4632	10	0.33940	T	0.23	.	11.2909	0.49250	0.0:0.3576:0.6424:0.0	.	270;260	P14672;F5H081	GTR4_HUMAN;.	Q	270;260	ENSP00000320935:E270Q;ENSP00000396887:E260Q	ENSP00000320935:E270Q	E	+	1	0	SLC2A4	7128608	1.000000	0.71417	0.961000	0.40146	0.956000	0.61745	5.344000	0.65981	1.191000	0.43056	0.655000	0.94253	GAG		0.637	SLC2A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220031.3			42	100	0	0	0	1	0	42	100				
ATP2C1	27032	broad.mit.edu	37	3	130720094	130720094	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:130720094C>T	ENST00000510168.1	+	28	3210	c.2660C>T	c.(2659-2661)tCa>tTa	p.S887L	ATP2C1_ENST00000513801.1_Missense_Mutation_p.S871L|ATP2C1_ENST00000504381.1_Missense_Mutation_p.S832L|ATP2C1_ENST00000393221.4_Missense_Mutation_p.S921L|ATP2C1_ENST00000428331.2_Missense_Mutation_p.S887L|ATP2C1_ENST00000507488.2_Missense_Mutation_p.S871L|ATP2C1_ENST00000422190.2_Missense_Mutation_p.S887L|ATP2C1_ENST00000359644.3_Missense_Mutation_p.S887L|ATP2C1_ENST00000504948.1_Missense_Mutation_p.S871L|ATP2C1_ENST00000505330.1_Missense_Mutation_p.S871L|ATP2C1_ENST00000508532.1_Missense_Mutation_p.S887L|ATP2C1_ENST00000533801.2_Missense_Mutation_p.S882L|ATP2C1_ENST00000328560.8_Intron			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	887					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CTCACCTCATCAGTGTGCATA	0.363									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)	ENST00000510168.1																			0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39	GRCh37	CM032195	ATP2C1	M		c.(2659-2661)tCa>tTa		ATPase, Ca++ transporting, type 2C, member 1	Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)						145.0	136.0	139.0					3																	130720094		2203	4300	6503	SO:0001583	missense	27032	Hailey-Hailey disease	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity	g.chr3:130720094C>T	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"""ATPases / P-type"""	13211	protein-coding gene	gene with protein product	"""secretory pathway Ca2+/Mn2+ ATPase 1"", ""calcium-transporting ATPase type 2C member 1"""	604384	"""benign chronic pemphigus (Hailey-Hailey disease)"""	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.2660C>T	3.37:g.130720094C>T	ENSP00000427461:p.Ser887Leu					ATP2C1_ENST00000505330.1_Missense_Mutation_p.S871L|ATP2C1_ENST00000328560.8_Intron|ATP2C1_ENST00000513801.1_Missense_Mutation_p.S871L|ATP2C1_ENST00000393221.4_Missense_Mutation_p.S921L|ATP2C1_ENST00000504381.1_Missense_Mutation_p.S832L|ATP2C1_ENST00000508532.1_Missense_Mutation_p.S887L|ATP2C1_ENST00000533801.2_Missense_Mutation_p.S882L|ATP2C1_ENST00000504948.1_Missense_Mutation_p.S871L|ATP2C1_ENST00000507488.2_Missense_Mutation_p.S871L|ATP2C1_ENST00000422190.2_Missense_Mutation_p.S887L|ATP2C1_ENST00000428331.2_Missense_Mutation_p.S887L|ATP2C1_ENST00000359644.3_Missense_Mutation_p.S887L	p.S887L			P98194	AT2C1_HUMAN			28	3210	+			887					B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Missense_Mutation	SNP	ENST00000510168.1	37	c.2660C>T	CCDS46914.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.7|21.7	4.186083|4.186083	0.78789|0.78789	.|.	.|.	ENSG00000017260|ENSG00000017260	ENST00000504612|ENST00000505330;ENST00000504381;ENST00000507488;ENST00000393221;ENST00000533801;ENST00000510168;ENST00000508532;ENST00000504948;ENST00000513801;ENST00000428331;ENST00000359644;ENST00000422190;ENST00000347421	.|D;D;D;D;D;D;D;D;D;D;D;D	.|0.95103	.|-3.61;-3.61;-3.61;-3.61;-3.61;-3.61;-3.61;-3.61;-3.61;-3.61;-3.61;-3.61	6.06|6.06	6.06|6.06	0.98353|0.98353	.|ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.93390	.|0.7892	L|L	0.45581|0.45581	1.43|1.43	0.80722|0.80722	D|D	1|1	.|P;B;P;P;P;P	.|0.41848	.|0.72;0.337;0.763;0.72;0.763;0.763	.|B;B;P;B;P;B	.|0.48571	.|0.333;0.346;0.582;0.333;0.582;0.33	.|D	.|0.89861	.|0.4016	.|10	.|0.02654	.|T	.|1	.|.	18.8203|18.8203	0.92094|0.92094	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|921;882;921;887;921;887	.|G3XAH8;B4DSW3;B4E2Q0;P98194-5;B7Z3X9;P98194	.|.;.;.;.;.;AT2C1_HUMAN	X|L	841|871;832;871;921;882;887;887;871;871;887;887;887;886	.|ENSP00000423774:S871L;ENSP00000425320:S832L;ENSP00000421326:S871L;ENSP00000376914:S921L;ENSP00000432956:S882L;ENSP00000427461:S887L;ENSP00000424783:S887L;ENSP00000423330:S871L;ENSP00000422872:S871L;ENSP00000395809:S887L;ENSP00000352665:S887L;ENSP00000402677:S887L	.|ENSP00000306816:S886L	Q|S	+|+	1|2	0|0	ATP2C1|ATP2C1	132202784|132202784	1.000000|1.000000	0.71417|0.71417	0.906000|0.906000	0.35671|0.35671	0.993000|0.993000	0.82548|0.82548	7.536000|7.536000	0.82023|0.82023	2.880000|2.880000	0.98712|0.98712	0.650000|0.650000	0.86243|0.86243	CAG|TCA		0.363	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356648.2	NM_001001486		15	64	0	0	0	1	0	15	64				
ZNF112	7771	broad.mit.edu	37	19	44833397	44833397	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:44833397C>A	ENST00000337401.4	-	5	1019	c.931G>T	c.(931-933)Gat>Tat	p.D311Y	ZNF112_ENST00000536500.1_Missense_Mutation_p.D328Y|ZNF112_ENST00000354340.4_Missense_Mutation_p.D305Y	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	311					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TCAATATCATCTTCTCTCTCA	0.383																																						ENST00000354340.4																			0											c.(913-915)Gat>Tat		zinc finger protein 112							96.0	87.0	90.0					19																	44833397		2203	4300	6503	SO:0001583	missense	7665							g.chr19:44833397C>A	AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"""Zinc fingers, C2H2-type"""	12892	protein-coding gene	gene with protein product		603994	"""zinc finger protein 112 homolog (mouse)"", ""zinc finger protein 228"""	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.931G>T	19.37:g.44833397C>A	ENSP00000337081:p.Asp311Tyr					ZNF112_ENST00000536500.1_Missense_Mutation_p.D328Y|ZNF112_ENST00000337401.4_Missense_Mutation_p.D311Y	p.D305Y	NM_013380.3	NP_037512.3					4	964	-								A4FU53|Q9HCA7	Missense_Mutation	SNP	ENST00000337401.4	37	c.913G>T	CCDS54276.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.564057	0.65651	.	.	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	T;T;T	0.06142	3.34;3.35;3.36	3.6	3.6	0.41247	.	0.466254	0.15933	N	0.237585	T	0.18173	0.0436	M	0.68317	2.08	0.21184	N	0.999767	D;D;D	0.65815	0.992;0.995;0.992	P;P;P	0.57548	0.67;0.823;0.67	T	0.01488	-1.1342	10	0.87932	D	0	-3.3404	13.5516	0.61736	0.0:1.0:0.0:0.0	.	310;328;311	B4DYT4;F5GWS7;Q9UJU3	.;.;ZF112_HUMAN	Y	311;311;305;328;310	ENSP00000337081:D311Y;ENSP00000346305:D305Y;ENSP00000441990:D328Y	ENSP00000253426:D310Y	D	-	1	0	ZNF285	49525237	0.006000	0.16342	0.057000	0.19452	0.439000	0.31926	1.431000	0.34925	2.350000	0.79820	0.561000	0.74099	GAT		0.383	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380		19	36	1	0	2.39187e-15	1	2.48303e-15	19	36				
OLFM3	118427	broad.mit.edu	37	1	102290692	102290692	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:102290692G>A	ENST00000338858.5	-	4	541	c.542C>T	c.(541-543)tCt>tTt	p.S181F	OLFM3_ENST00000536598.1_Missense_Mutation_p.S86F|OLFM3_ENST00000370103.4_Missense_Mutation_p.S161F|OLFM3_ENST00000359814.3_Missense_Mutation_p.S181F|OLFM3_ENST00000462354.1_5'UTR			Q96PB7	NOE3_HUMAN	olfactomedin 3	181					eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		GAGGACAGCAGACAGATTCCT	0.468																																						ENST00000370103.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43						c.(481-483)tCt>tTt		olfactomedin 3							155.0	139.0	145.0					1																	102290692		2203	4300	6503	SO:0001583	missense	118427					extracellular region		g.chr1:102290692G>A	AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"""optimedin"""	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.542C>T	1.37:g.102290692G>A	ENSP00000345192:p.Ser181Phe					OLFM3_ENST00000359814.3_Missense_Mutation_p.S181F|OLFM3_ENST00000338858.5_Missense_Mutation_p.S181F|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_Missense_Mutation_p.S86F	p.S161F	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)	4	695	-		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)	181					Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Missense_Mutation	SNP	ENST00000338858.5	37	c.482C>T		.	.	.	.	.	.	.	.	.	.	G	20.7	4.036160	0.75617	.	.	ENSG00000118733	ENST00000424771;ENST00000370103;ENST00000338858;ENST00000536598;ENST00000359814	D;D;T;T	0.89196	-2.47;-2.48;-0.85;0.14	5.91	5.91	0.95273	.	0.051877	0.85682	D	0.000000	D	0.91140	0.7210	M	0.61703	1.905	0.58432	D	0.999995	P;P	0.45715	0.865;0.61	P;B	0.52909	0.713;0.352	D	0.91167	0.4965	10	0.72032	D	0.01	.	20.2963	0.98556	0.0:0.0:1.0:0.0	.	161;181	Q5T3V6;Q96PB7	.;NOE3_HUMAN	F	32;161;181;86;181	ENSP00000359121:S161F;ENSP00000345192:S181F;ENSP00000443471:S86F;ENSP00000352867:S181F	ENSP00000345192:S181F	S	-	2	0	OLFM3	102063280	1.000000	0.71417	0.999000	0.59377	0.712000	0.41017	9.848000	0.99507	2.813000	0.96785	0.655000	0.94253	TCT		0.468	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000030142.1			4	40	0	0	0	1	0	4	40				
PEX11G	92960	broad.mit.edu	37	19	7542149	7542149	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:7542149G>A	ENST00000221480.1	-	5	673	c.665C>T	c.(664-666)tCa>tTa	p.S222L	PEX11G_ENST00000599519.1_5'UTR|PEX11G_ENST00000593942.1_Missense_Mutation_p.S152L	NM_001270539.1|NM_080662.3	NP_001257468.1|NP_542393.1	Q96HA9	PX11C_HUMAN	peroxisomal biogenesis factor 11 gamma	222					peroxisome fission (GO:0016559)|regulation of peroxisome size (GO:0044375)	integral component of peroxisomal membrane (GO:0005779)|intrinsic component of peroxisomal membrane (GO:0031231)|peroxisome (GO:0005777)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(1)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	7						GCTGAGGATTGAGGAGATGGT	0.721																																						ENST00000593942.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	7						c.(454-456)tCa>tTa		peroxisomal biogenesis factor 11 gamma							13.0	17.0	15.0					19																	7542149		2173	4263	6436	SO:0001583	missense	92960					integral to membrane|peroxisomal membrane		g.chr19:7542149G>A	BC008780	CCDS12178.1	19p13.2	2008-02-05				ENSG00000104883			20208	protein-coding gene	gene with protein product		607583				12417726	Standard	NM_080662		Approved		uc002mgk.2	Q96HA9		ENST00000221480.1:c.665C>T	19.37:g.7542149G>A	ENSP00000221480:p.Ser222Leu					PEX11G_ENST00000599519.1_5'UTR|PEX11G_ENST00000221480.1_Missense_Mutation_p.S222L	p.S152L			Q96HA9	PX11C_HUMAN			7	957	-			222					Q8NDM0	Missense_Mutation	SNP	ENST00000221480.1	37	c.455C>T	CCDS12178.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.958490	0.74016	.	.	ENSG00000104883	ENST00000221480	T	0.68479	-0.33	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.84028	0.5382	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.87037	0.2138	10	0.87932	D	0	-23.9411	16.2364	0.82377	0.0:0.0:1.0:0.0	.	222	Q96HA9	PX11C_HUMAN	L	222	ENSP00000221480:S222L	ENSP00000221480:S222L	S	-	2	0	PEX11G	7448149	1.000000	0.71417	0.920000	0.36463	0.145000	0.21501	8.906000	0.92626	2.405000	0.81733	0.563000	0.77884	TCA		0.721	PEX11G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458965.1	NM_080662		5	11	0	0	0	1	0	5	11				
ACTR8	93973	broad.mit.edu	37	3	53905447	53905447	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:53905447G>A	ENST00000335754.3	-	11	1479	c.1379C>T	c.(1378-1380)tCt>tTt	p.S460F	ACTR8_ENST00000488802.1_5'Flank|ACTR8_ENST00000482349.1_Missense_Mutation_p.S349F|ACTR8_ENST00000231909.7_Missense_Mutation_p.S165F	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	460					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	ATP binding (GO:0005524)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		TGGAAGATCAGAGGACTGGCC	0.507																																						ENST00000335754.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19						c.(1378-1380)tCt>tTt		ARP8 actin-related protein 8 homolog (yeast)							81.0	83.0	83.0					3																	53905447		2203	4300	6503	SO:0001583	missense	93973				cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding	g.chr3:53905447G>A		CCDS2875.1	3p21.31	2011-07-06	2001-11-28		ENSG00000113812	ENSG00000113812		"""INO80 complex subunits"""	14672	protein-coding gene	gene with protein product	"""INO80 complex subunit N"""		"""ARP8 (actin-related protein 8, yeast) homolog"""			18163988, 16230350	Standard	NM_022899		Approved	INO80N	uc003dhd.3	Q9H981	OTTHUMG00000158279	ENST00000335754.3:c.1379C>T	3.37:g.53905447G>A	ENSP00000336842:p.Ser460Phe					ACTR8_ENST00000482349.1_Missense_Mutation_p.S349F|ACTR8_ENST00000231909.7_Missense_Mutation_p.S165F	p.S460F	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)	11	1479	-			460					B3KSW7|Q8N566|Q9H663	Missense_Mutation	SNP	ENST00000335754.3	37	c.1379C>T	CCDS2875.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.342511	0.61073	.	.	ENSG00000113812	ENST00000335754;ENST00000482349;ENST00000231909	D;D;D	0.97186	-4.04;-4.15;-4.28	5.93	5.93	0.95920	.	0.201512	0.45606	D	0.000344	D	0.92974	0.7764	N	0.12182	0.205	0.45718	D	0.998625	P;B	0.42941	0.794;0.073	B;B	0.38428	0.273;0.082	D	0.93790	0.7091	10	0.62326	D	0.03	-19.2136	18.5214	0.90954	0.0:0.0:1.0:0.0	.	460;165	Q9H981;Q9H981-3	ARP8_HUMAN;.	F	460;349;165	ENSP00000336842:S460F;ENSP00000419429:S349F;ENSP00000231909:S165F	ENSP00000231909:S165F	S	-	2	0	ACTR8	53880487	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.760000	0.74939	2.814000	0.96858	0.655000	0.94253	TCT		0.507	ACTR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350562.2	NM_022899		49	46	0	0	0	1	0	49	46				
ANKRD30A	91074	broad.mit.edu	37	10	37506723	37506723	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr10:37506723G>A	ENST00000602533.1	+	33	3115	c.3016G>A	c.(3016-3018)Gag>Aag	p.E1006K	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.E1125K|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E1006K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1062					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GCATAGGAAAGAGTTAGAAGT	0.323																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(3373-3375)Gag>Aag		ankyrin repeat domain 30A							70.0	70.0	70.0					10																	37506723		1817	4061	5878	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37506723G>A	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.3016G>A	10.37:g.37506723G>A	ENSP00000473551:p.Glu1006Lys					ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E1006K|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E1006K	p.E1125K			Q9BXX3	AN30A_HUMAN			39	3472	+			1100					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.3373G>A		.	.	.	.	.	.	.	.	.	.	g	10.10	1.257084	0.22965	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.17691	2.26;2.26	2.78	0.817	0.18773	.	.	.	.	.	T	0.10981	0.0268	N	0.17764	0.52	0.09310	N	1	B	0.27286	0.174	B	0.34093	0.175	T	0.39742	-0.9599	9	0.32370	T	0.25	.	5.5738	0.17212	0.1257:0.2017:0.6726:0.0	.	1062	Q9BXX3	AN30A_HUMAN	K	1006;1125	ENSP00000354432:E1006K;ENSP00000363792:E1125K	ENSP00000354432:E1006K	E	+	1	0	ANKRD30A	37546729	0.978000	0.34361	0.001000	0.08648	0.001000	0.01503	0.759000	0.26461	-0.023000	0.13963	-0.359000	0.07587	GAG		0.323	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		6	57	0	0	0	1	0	6	57				
USP9X	8239	broad.mit.edu	37	X	41088907	41088907	+	Nonsense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chrX:41088907C>T	ENST00000324545.8	+	43	7939	c.7306C>T	c.(7306-7308)Cag>Tag	p.Q2436*	USP9X_ENST00000378308.2_Nonsense_Mutation_p.Q2436*	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	2436					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)	p.Q2429*(1)|p.Q2436*(1)		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						TGGCAATCCTCAGTACACTTA	0.428																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			2	Substitution - Nonsense(2)	p.Q2429*(1)|p.Q2436*(1)	lung(2)	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.(7306-7308)Cag>Tag		ubiquitin specific peptidase 9, X-linked							100.0	99.0	99.0					X																	41088907		2202	4300	6502	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:41088907C>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.7306C>T	X.37:g.41088907C>T	ENSP00000316357:p.Gln2436*					USP9X_ENST00000378308.2_Nonsense_Mutation_p.Q2436*	p.Q2436*	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			43	7939	+			2436					O75550|Q8WWT3|Q8WX12	Nonsense_Mutation	SNP	ENST00000324545.8	37	c.7306C>T	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	C	52	19.321124	0.99918	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	18.6846	0.91559	0.0:1.0:0.0:0.0	.	.	.	.	X	2436	.	ENSP00000316357:Q2436X	Q	+	1	0	USP9X	40973851	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	7.398000	0.79919	2.356000	0.79943	0.600000	0.82982	CAG		0.428	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		42	16	0	0	0	1	0	42	16				
SNAPC3	6619	broad.mit.edu	37	9	15457957	15457957	+	Splice_Site	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:15457957G>C	ENST00000380821.3	+	8	1156		c.e8-1			NM_001039697.1	NP_001034786.1	Q92966	SNPC3_HUMAN	small nuclear RNA activating complex, polypeptide 3, 50kDa						gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription (GO:0009301)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|large_intestine(6)|lung(2)	12				GBM - Glioblastoma multiforme(50;2.15e-06)		ACGAACAAAAGGCTTGTGCAT	0.333																																						ENST00000380821.3																			0				breast(1)|endometrium(3)|large_intestine(6)|lung(2)	12						c.e8-1		small nuclear RNA activating complex, polypeptide 3, 50kDa							137.0	126.0	130.0					9																	15457957		2203	4300	6503	SO:0001630	splice_region_variant	6619				regulation of transcription, DNA-dependent|snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|protein binding	g.chr9:15457957G>C	U71300	CCDS6478.1	9p22.3	2008-07-21	2002-08-29		ENSG00000164975	ENSG00000164975			11136	protein-coding gene	gene with protein product		602348	"""small nuclear RNA activating complex, polypeptide 3, 50kD"""			9003788	Standard	XR_428427		Approved	SNAP50, PTFbeta, MGC33124, MGC132011	uc003zlt.3	Q92966	OTTHUMG00000019583	ENST00000380821.3:c.981-1G>C	9.37:g.15457957G>C								NM_001039697.1	NP_001034786.1	Q92966	SNPC3_HUMAN		GBM - Glioblastoma multiforme(50;2.15e-06)	8	1156	+								D3DRI8|Q2VPI6|Q5T285	Splice_Site	SNP	ENST00000380821.3	37		CCDS6478.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.235700	0.79800	.	.	ENSG00000164975	ENST00000380821	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6616	0.91473	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SNAPC3	15447957	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	8.765000	0.91724	2.430000	0.82344	0.561000	0.74099	.		0.333	SNAPC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051763.2	NM_001039697	Intron	35	38	0	0	0	1	0	35	38				
NOL8	55035	broad.mit.edu	37	9	95062203	95062203	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:95062203C>T	ENST00000535387.1	-	12	3156	c.3157G>A	c.(3157-3159)Gaa>Aaa	p.E1053K	NOL8_ENST00000358855.4_Missense_Mutation_p.E1023K|NOL8_ENST00000545558.1_Missense_Mutation_p.E1091K|NOL8_ENST00000542053.1_Missense_Mutation_p.E1023K|NOL8_ENST00000442668.2_Missense_Mutation_p.E1091K					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TCTGTTTCTTCAGTAACATCT	0.378																																						ENST00000545558.1																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						c.(3271-3273)Gaa>Aaa		nucleolar protein 8							240.0	230.0	233.0					9																	95062203		1847	4089	5936	SO:0001583	missense	55035				DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding	g.chr9:95062203C>T	AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"""RNA binding motif (RRM) containing"""	23387	protein-coding gene	gene with protein product		611534	"""chromosome 9 open reading frame 34"""	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.3157G>A	9.37:g.95062203C>T	ENSP00000441300:p.Glu1053Lys					NOL8_ENST00000535387.1_Missense_Mutation_p.E1053K|NOL8_ENST00000542053.1_Missense_Mutation_p.E1023K|NOL8_ENST00000442668.2_Missense_Mutation_p.E1091K|NOL8_ENST00000358855.4_Missense_Mutation_p.E1023K	p.E1091K			Q76FK4	NOL8_HUMAN			14	3763	-			1091						Missense_Mutation	SNP	ENST00000535387.1	37	c.3271G>A	CCDS47993.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.046829	0.75846	.	.	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053	T;T;T;T;T	0.17854	2.25;2.28;2.25;2.52;2.28	5.22	4.32	0.51571	.	0.188150	0.45867	D	0.000323	T	0.13157	0.0319	L	0.28115	0.83	0.53005	D	0.999965	B;B	0.23735	0.008;0.09	B;B	0.25506	0.024;0.061	T	0.05886	-1.0858	10	0.59425	D	0.04	-29.8456	10.8503	0.46767	0.0:0.796:0.1309:0.0732	.	1023;1091	Q76FK4-2;Q76FK4	.;NOL8_HUMAN	K	1091;1055;1023;1091;1053;1023	ENSP00000401177:E1091K;ENSP00000351723:E1023K;ENSP00000441140:E1091K;ENSP00000441300:E1053K;ENSP00000440709:E1023K	ENSP00000351723:E1023K	E	-	1	0	NOL8	94102024	0.827000	0.29292	0.991000	0.47740	0.910000	0.53928	0.884000	0.28214	1.529000	0.49120	-0.143000	0.13931	GAA		0.378	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2	NM_017948		8	273	0	0	0	1	0	8	273				
ABCA3	21	broad.mit.edu	37	16	2338038	2338038	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:2338038C>T	ENST00000301732.5	-	21	3693	c.2993G>A	c.(2992-2994)cGc>cAc	p.R998H	ABCA3_ENST00000382381.3_Missense_Mutation_p.R940H	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	998					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	GAGCACCTCGCGGGGCTCCTG	0.667																																						ENST00000301732.5																			0				breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70						c.(2992-2994)cGc>cAc		ATP-binding cassette, sub-family A (ABC1), member 3							26.0	26.0	26.0					16																	2338038		2198	4300	6498	SO:0001583	missense	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2338038C>T	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.2993G>A	16.37:g.2338038C>T	ENSP00000301732:p.Arg998His					ABCA3_ENST00000382381.3_Missense_Mutation_p.R940H	p.R998H	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN			21	3693	-		Ovarian(90;0.17)	998					B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	37	c.2993G>A	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	C	3.510	-0.100026	0.07010	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D	0.87412	-2.25	5.27	3.34	0.38264	.	0.403914	0.27159	N	0.020642	T	0.73674	0.3617	L	0.37630	1.12	0.09310	N	1	B;B	0.30033	0.266;0.132	B;B	0.22386	0.039;0.022	T	0.56511	-0.7967	10	0.09843	T	0.71	.	4.1012	0.10014	0.1629:0.5876:0.0:0.2495	.	1002;998	Q4LE27;Q99758	.;ABCA3_HUMAN	H	998;1002	ENSP00000301732:R998H	ENSP00000301732:R998H	R	-	2	0	ABCA3	2278039	0.011000	0.17503	0.095000	0.20976	0.756000	0.42949	0.540000	0.23191	0.803000	0.34113	0.655000	0.94253	CGC		0.667	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		19	27	0	0	0	1	0	19	27				
MYO9B	4650	broad.mit.edu	37	19	17316865	17316865	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:17316865G>C	ENST00000594824.1	+	32	5308	c.5161G>C	c.(5161-5163)Gaa>Caa	p.E1721Q	MYO9B_ENST00000595618.1_Missense_Mutation_p.E1721Q|CTD-3032J10.3_ENST00000601929.1_RNA|MYO9B_ENST00000397274.2_Missense_Mutation_p.E1721Q			Q13459	MYO9B_HUMAN	myosin IXB	1721	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.|Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GAAGCTCCTGGAACACGTGGA	0.672																																						ENST00000595618.1																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						c.(5161-5163)Gaa>Caa		myosin IXB							38.0	45.0	43.0					19																	17316865		2147	4252	6399	SO:0001583	missense	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17316865G>C		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.5161G>C	19.37:g.17316865G>C	ENSP00000471367:p.Glu1721Gln					MYO9B_ENST00000397274.2_Missense_Mutation_p.E1721Q|MYO9B_ENST00000594824.1_Missense_Mutation_p.E1721Q	p.E1721Q	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN			32	5313	+			1721			Rho-GAP.|Tail.		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37	c.5161G>C		.	.	.	.	.	.	.	.	.	.	G	18.11	3.551798	0.65311	.	.	ENSG00000099331	ENST00000397274;ENST00000319396	T	0.20738	2.05	4.84	4.84	0.62591	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.56097	D	0.000029	T	0.36991	0.0987	L	0.41415	1.275	0.41386	D	0.987582	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.87578	0.997;0.997;0.998	T	0.04065	-1.0980	10	0.23302	T	0.38	.	17.2969	0.87172	0.0:0.0:1.0:0.0	.	1721;1721;1727	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	Q	1721;66	ENSP00000380444:E1721Q	ENSP00000314032:E66Q	E	+	1	0	MYO9B	17177865	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.341000	0.65964	2.399000	0.81585	0.561000	0.74099	GAA		0.672	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			30	43	0	0	0	1	0	30	43				
SERPINB3	6317	broad.mit.edu	37	18	61328439	61328439	+	Silent	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr18:61328439G>C	ENST00000283752.5	-	2	155	c.12C>G	c.(10-12)ctC>ctG	p.L4L	SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Silent_p.L4L	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	4					negative regulation of catalytic activity (GO:0043086)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)|virus receptor activity (GO:0001618)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TGGCTTCACTGAGTGAATTCA	0.393																																						ENST00000283752.5																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						c.(10-12)ctC>ctG		serpin peptidase inhibitor, clade B (ovalbumin), member 3							211.0	194.0	200.0					18																	61328439		2203	4300	6503	SO:0001819	synonymous_variant	6317				regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61328439G>C	U19568	CCDS11987.1	18q21.3	2014-02-18	2005-08-18		ENSG00000057149	ENSG00000057149		"""Serine (or cysteine) peptidase inhibitors"""	10569	protein-coding gene	gene with protein product		600517	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 3"""	SCC, SCCA1		7724531, 24172014	Standard	NM_006919		Approved	T4-A, HsT1196	uc002lji.3	P29508	OTTHUMG00000060403	ENST00000283752.5:c.12C>G	18.37:g.61328439G>C						SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Silent_p.L4L	p.L4L	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN			2	155	-			4					A6NDM2|B2RBT5|B3W5Y6|Q53H28|Q53YB5|Q86VF3|Q86W04|Q8IWL4|Q8IXI3|Q96J21|Q9BYF8	Silent	SNP	ENST00000283752.5	37	c.12C>G	CCDS11987.1																																																																																				0.393	SERPINB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133791.1	NM_006919		77	133	0	0	0	1	0	77	133				
PRKACB	5567	broad.mit.edu	37	1	84649756	84649756	+	Nonsense_Mutation	SNP	G	G	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:84649756G>T	ENST00000370689.2	+	4	538	c.274G>T	c.(274-276)Gag>Tag	p.E92*	PRKACB_ENST00000394839.2_Intron|PRKACB_ENST00000370680.1_Nonsense_Mutation_p.E98*|PRKACB_ENST00000394838.2_Nonsense_Mutation_p.E99*|PRKACB_ENST00000470673.1_3'UTR|PRKACB_ENST00000370685.3_Nonsense_Mutation_p.E139*|PRKACB_ENST00000370688.3_Nonsense_Mutation_p.E92*|PRKACB_ENST00000370682.3_Nonsense_Mutation_p.E96*	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta	92	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of protein processing (GO:0070613)|response to clozapine (GO:0097338)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|magnesium ion binding (GO:0000287)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		TACTTTGAATGAGAAAAGAAT	0.264																																						ENST00000370689.2																			0				breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16						c.(274-276)Gag>Tag		protein kinase, cAMP-dependent, catalytic, beta							68.0	75.0	73.0					1																	84649756		2202	4279	6481	SO:0001587	stop_gained	5567				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding	g.chr1:84649756G>T	BC035058	CCDS691.1, CCDS692.1, CCDS693.1, CCDS55610.1, CCDS55611.1, CCDS72812.1, CCDS72813.1, CCDS72814.1, CCDS72815.1, CCDS72816.1	1p36.1	2012-10-02			ENSG00000142875	ENSG00000142875	2.7.11.1		9381	protein-coding gene	gene with protein product		176892					Standard	XM_005271016		Approved	PKACb	uc001djl.3	P22694	OTTHUMG00000009975	ENST00000370689.2:c.274G>T	1.37:g.84649756G>T	ENSP00000359723:p.Glu92*					PRKACB_ENST00000370688.3_Nonsense_Mutation_p.E92*|PRKACB_ENST00000370680.1_Nonsense_Mutation_p.E98*|PRKACB_ENST00000370685.3_Nonsense_Mutation_p.E139*|PRKACB_ENST00000370682.3_Nonsense_Mutation_p.E96*|PRKACB_ENST00000394838.2_Nonsense_Mutation_p.E99*|PRKACB_ENST00000470673.1_3'UTR|PRKACB_ENST00000394839.2_Intron	p.E92*	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN		all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)	4	538	+			92			Protein kinase.		B1APG4|B4DKB0|B4E2Q1|Q14VH1|Q59GC0|Q5BNE9|Q5BNF0|Q5BNF1|Q5BNF2|Q5BNF3|Q5CZ92|Q5T1K3|Q7Z3M1|Q8IYR5|Q8IZQ0|Q96B09	Nonsense_Mutation	SNP	ENST00000370689.2	37	c.274G>T	CCDS691.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.738823	0.89573	.	.	ENSG00000142875	ENST00000370689;ENST00000370688;ENST00000370685;ENST00000446538;ENST00000370684;ENST00000436133;ENST00000394838;ENST00000370682;ENST00000370679;ENST00000432111;ENST00000450730;ENST00000370680;ENST00000413538;ENST00000417530;ENST00000370681	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-20.4196	19.6704	0.95910	0.0:0.0:1.0:0.0	.	.	.	.	X	92;92;139;99;80;96;99;96;98;88;95;98;87;79;54	.	ENSP00000359713:E98X	E	+	1	0	PRKACB	84422344	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.342000	0.97044	2.641000	0.89580	0.650000	0.86243	GAG		0.264	PRKACB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027641.1	NM_182948		25	39	1	0	2.48779e-11	1	2.55021e-11	25	39				
SMPD3	55512	broad.mit.edu	37	16	68405623	68405623	+	Silent	SNP	G	G	A	rs369737564		TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:68405623G>A	ENST00000219334.5	-	3	1065	c.462C>T	c.(460-462)atC>atT	p.I154I	SMPD3_ENST00000568373.1_Silent_p.I154I|SMPD3_ENST00000563226.1_Silent_p.I154I|SMPD3_ENST00000566009.1_5'Flank	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	154					cell cycle (GO:0007049)|glycosphingolipid metabolic process (GO:0006687)|hematopoietic progenitor cell differentiation (GO:0002244)|peptide hormone secretion (GO:0030072)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	Golgi cis cisterna (GO:0000137)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	TTCTCTGCCCGATCTCCTTGG	0.592													g|||	1	0.000199681	0.0	0.0	5008	,	,		15551	0.0		0.0	False		,,,				2504	0.001					ENST00000219334.5																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(460-462)atC>atT		sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	Phosphatidylserine(DB00144)	T		1,4395		0,1,2197	27.0	33.0	31.0		462	-4.6	1.0	16		31	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SMPD3	NM_018667.3		0,2,6496	AA,AG,GG		0.0116,0.0227,0.0154		154/656	68405623	2,12994	2198	4300	6498	SO:0001819	synonymous_variant	55512				cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity	g.chr16:68405623G>A	AJ250460	CCDS10867.1	16q22.1	2008-02-05			ENSG00000103056	ENSG00000103056			14240	protein-coding gene	gene with protein product		605777				10823942	Standard	NM_018667		Approved	NSMASE2	uc002ewa.3	Q9NY59	OTTHUMG00000137559	ENST00000219334.5:c.462C>T	16.37:g.68405623G>A						SMPD3_ENST00000568373.1_Silent_p.I154I|SMPD3_ENST00000563226.1_Silent_p.I154I	p.I154I	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	3	1065	-		Ovarian(137;0.0563)	154					B7ZL82|Q2M1S8	Silent	SNP	ENST00000219334.5	37	c.462C>T	CCDS10867.1																																																																																				0.592	SMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268895.3	NM_018667		11	30	0	0	0	1	0	11	30				
METTL21C	196541	broad.mit.edu	37	13	103338598	103338598	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr13:103338598G>A	ENST00000267273.6	-	4	583	c.578C>T	c.(577-579)tCa>tTa	p.S193L		NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN	methyltransferase like 21C	193					peptidyl-lysine methylation (GO:0018022)|protein methylation (GO:0006479)	nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)			breast(1)|large_intestine(3)|lung(2)|skin(1)	7						GACCACATCTGAGGCTAGGAC	0.493																																						ENST00000267273.6																			0				breast(1)|large_intestine(3)|lung(2)|skin(1)	7						c.(577-579)tCa>tTa		methyltransferase like 21C							124.0	118.0	120.0					13																	103338598		2203	4300	6503	SO:0001583	missense	196541						methyltransferase activity	g.chr13:103338598G>A		CCDS32003.1	13q33.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000139780	ENSG00000139780			33717	protein-coding gene	gene with protein product		615259	"""chromosome 13 open reading frame 39"""	C13orf39			Standard	NM_001010977		Approved	LOC196541	uc001vpj.4	Q5VZV1	OTTHUMG00000017304	ENST00000267273.6:c.578C>T	13.37:g.103338598G>A	ENSP00000267273:p.Ser193Leu						p.S193L	NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN			4	583	-			193						Missense_Mutation	SNP	ENST00000267273.6	37	c.578C>T	CCDS32003.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.580958	0.65992	.	.	ENSG00000139780	ENST00000267273	T	0.08984	3.03	5.68	4.78	0.61160	.	0.282630	0.39985	N	0.001207	T	0.19525	0.0469	M	0.80847	2.515	0.39158	D	0.962349	P	0.39352	0.669	B	0.43838	0.433	T	0.02190	-1.1198	10	0.87932	D	0	-3.1724	16.071	0.80936	0.0:0.2387:0.7613:0.0	.	193	Q5VZV1	MT21C_HUMAN	L	193	ENSP00000267273:S193L	ENSP00000267273:S193L	S	-	2	0	METTL21C	102136599	1.000000	0.71417	0.846000	0.33378	0.419000	0.31324	5.000000	0.63940	2.691000	0.91804	0.650000	0.86243	TCA		0.493	METTL21C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045682.2	NM_001010977		23	42	0	0	0	1	0	23	42				
UTS2B	257313	broad.mit.edu	37	3	190993061	190993061	+	Missense_Mutation	SNP	G	G	A	rs200863229		TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:190993061G>A	ENST00000340524.5	-	8	1100	c.314C>T	c.(313-315)tCt>tTt	p.S105F	UTS2B_ENST00000427544.2_Missense_Mutation_p.S105F	NM_198152.3	NP_937795.2	Q765I0	UTS2B_HUMAN	urotensin 2B	105					regulation of blood pressure (GO:0008217)|regulation of vasodilation (GO:0042312)	extracellular region (GO:0005576)											AGGATGAGAAGAGAATAGACC	0.353													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18207	0.0		0.0	False		,,,				2504	0.0					ENST00000340524.5																			0											c.(313-315)tCt>tTt		urotensin 2B		G	PHE/SER	1,4405	2.1+/-5.4	0,1,2202	181.0	182.0	181.0		314	2.8	0.2	3		181	0,8600		0,0,4300	no	missense	UTS2D	NM_198152.3	155	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	105/120	190993061	1,13005	2203	4300	6503	SO:0001583	missense	257313							g.chr3:190993061G>A	AB116021	CCDS3300.1	3q28	2013-02-28	2013-02-28	2013-02-28	ENSG00000188958	ENSG00000188958		"""Endogenous ligands"""	30894	protein-coding gene	gene with protein product	"""prepro-URP"""		"""urotensin 2 domain containing"""	UTS2D		14550283	Standard	NM_198152		Approved	URP, U2B	uc003fsu.3	Q765I0	OTTHUMG00000156192	ENST00000340524.5:c.314C>T	3.37:g.190993061G>A	ENSP00000340526:p.Ser105Phe					UTS2B_ENST00000427544.2_Missense_Mutation_p.S105F	p.S105F	NM_198152.3	NP_937795.2					8	1100	-								B3KQY8|D3DNW1|Q2M1Z2	Missense_Mutation	SNP	ENST00000340524.5	37	c.314C>T	CCDS3300.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	9.427	1.084539	0.20309	2.27E-4	0.0	ENSG00000188958	ENST00000340524;ENST00000427544	T;T	0.49139	0.79;0.79	4.78	2.83	0.33086	.	0.458777	0.18426	N	0.141585	T	0.52853	0.1760	M	0.61703	1.905	0.09310	N	1	D	0.60160	0.987	P	0.55260	0.772	T	0.43294	-0.9400	10	0.72032	D	0.01	-6.3096	5.7229	0.17996	0.2426:0.0:0.7574:0.0	.	105	Q765I0	UTS2B_HUMAN	F	105	ENSP00000340526:S105F;ENSP00000398761:S105F	ENSP00000340526:S105F	S	-	2	0	UTS2D	192475755	0.030000	0.19436	0.166000	0.22797	0.025000	0.11179	1.277000	0.33167	1.235000	0.43724	0.591000	0.81541	TCT		0.353	UTS2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343353.1	NM_198152		51	177	0	0	0	1	0	51	177				
MYOM2	9172	broad.mit.edu	37	8	2054045	2054045	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr8:2054045C>T	ENST00000262113.4	+	22	2889	c.2748C>T	c.(2746-2748)atC>atT	p.I916I	MYOM2_ENST00000523438.1_Silent_p.I341I	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	916	Ig-like C2-type 3.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CCAAGGAAATCAGTGCTGGTG	0.502																																						ENST00000262113.4																			0				autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104						c.(2746-2748)atC>atT		myomesin 2							133.0	119.0	124.0					8																	2054045		2203	4300	6503	SO:0001819	synonymous_variant	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2054045C>T		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.2748C>T	8.37:g.2054045C>T						MYOM2_ENST00000523438.1_Silent_p.I341I	p.I916I	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	22	2889	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	916			Ig-like C2-type 3.		Q7Z3Y2	Silent	SNP	ENST00000262113.4	37	c.2748C>T	CCDS5957.1																																																																																				0.502	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		38	60	0	0	0	1	0	38	60				
CAMTA1	23261	broad.mit.edu	37	1	7797459	7797459	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:7797459C>T	ENST00000303635.7	+	15	3694	c.3487C>T	c.(3487-3489)Ctg>Ttg	p.L1163L	CAMTA1_ENST00000439411.2_Silent_p.L1163L	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1163					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		AGCAGAGTGTCTGGAGCACCT	0.577			T	WWTR1	epitheliod hemangioendothelioma																																	ENST00000303635.7				Dom	yes		1	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1			M	WWTR1		epitheliod hemangioendothelioma		0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85						c.(3487-3489)Ctg>Ttg		calmodulin binding transcription activator 1							80.0	80.0	80.0					1																	7797459		2203	4300	6503	SO:0001819	synonymous_variant	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7797459C>T	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.3487C>T	1.37:g.7797459C>T						CAMTA1_ENST00000439411.2_Silent_p.L1163L	p.L1163L	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	15	3694	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	1163					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Silent	SNP	ENST00000303635.7	37	c.3487C>T	CCDS30576.1																																																																																				0.577	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		60	81	0	0	0	1	0	60	81				
TMEM2	23670	broad.mit.edu	37	9	74360459	74360459	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:74360459C>T	ENST00000377044.4	-	4	1048	c.509G>A	c.(508-510)aGa>aAa	p.R170K	TMEM2_ENST00000377066.5_Missense_Mutation_p.R170K	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	170	G8. {ECO:0000255|PROSITE- ProRule:PRU00817}.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		AGTAATATTTCTGGATCCATC	0.423																																						ENST00000377044.4																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56						c.(508-510)aGa>aAa		transmembrane protein 2							83.0	91.0	88.0					9																	74360459		2203	4300	6503	SO:0001583	missense	23670					integral to membrane		g.chr9:74360459C>T		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.509G>A	9.37:g.74360459C>T	ENSP00000366243:p.Arg170Lys					TMEM2_ENST00000377066.5_Missense_Mutation_p.R170K	p.R170K	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	4	1048	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	170			G8.		A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	c.509G>A	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.876408	0.33162	.	.	ENSG00000135048	ENST00000377044;ENST00000377066	D;D	0.89485	-2.52;-2.52	5.87	4.96	0.65561	G8 domain (2);	0.184300	0.64402	N	0.000013	T	0.70343	0.3213	N	0.02685	-0.53	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.65405	-0.6176	10	0.06365	T	0.9	.	9.8204	0.40878	0.0:0.7798:0.0:0.2202	.	170;170	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	K	170	ENSP00000366243:R170K;ENSP00000366266:R170K	ENSP00000366243:R170K	R	-	2	0	TMEM2	73550279	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.655000	0.37345	1.596000	0.50062	0.655000	0.94253	AGA		0.423	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		22	67	0	0	0	1	0	22	67				
ABCC10	89845	broad.mit.edu	37	6	43403588	43403588	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:43403588C>T	ENST00000372530.4	+	5	1923	c.1708C>T	c.(1708-1710)Cgg>Tgg	p.R570W	ABCC10_ENST00000244533.3_Missense_Mutation_p.R527W	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	570					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	GTCCTTGGACCGGATCCAGCT	0.567																																						ENST00000244533.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(1579-1581)Cgg>Tgg		ATP-binding cassette, sub-family C (CFTR/MRP), member 10							114.0	102.0	106.0					6																	43403588		2203	4300	6503	SO:0001583	missense	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43403588C>T	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.1708C>T	6.37:g.43403588C>T	ENSP00000361608:p.Arg570Trp					ABCC10_ENST00000372530.4_Missense_Mutation_p.R570W	p.R527W	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		3	1938	+	all_lung(25;0.00536)		570			ABC transmembrane type-1 1.		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	c.1579C>T	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.392994	0.83011	.	.	ENSG00000124574	ENST00000372515;ENST00000372530;ENST00000244533	D;D;D	0.97279	-4.32;-3.98;-3.98	5.3	5.3	0.74995	ABC transporter, transmembrane domain, type 1 (1);	0.072532	0.56097	D	0.000025	D	0.99111	0.9694	H	0.97051	3.93	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99331	1.0909	10	0.87932	D	0	-36.0171	18.9723	0.92719	0.0:1.0:0.0:0.0	.	527;570	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	W	126;570;527	ENSP00000361593:R126W;ENSP00000361608:R570W;ENSP00000244533:R527W	ENSP00000244533:R527W	R	+	1	2	ABCC10	43511566	0.999000	0.42202	1.000000	0.80357	0.982000	0.71751	3.776000	0.55356	2.492000	0.84095	0.462000	0.41574	CGG		0.567	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		63	91	0	0	0	1	0	63	91				
MTBP	27085	broad.mit.edu	37	8	121468867	121468867	+	Nonsense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr8:121468867C>G	ENST00000305949.1	+	7	749	c.704C>G	c.(703-705)tCa>tGa	p.S235*		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	MDM2 binding protein	235					cell cycle arrest (GO:0007050)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cell proliferation (GO:0008285)|protein localization to kinetochore (GO:0034501)|traversing start control point of mitotic cell cycle (GO:0007089)	chromatin (GO:0000785)|kinetochore (GO:0000776)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			GTTATTGACTCAAAGGAATTA	0.313																																						ENST00000305949.1																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30						c.(703-705)tCa>tGa		Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa							98.0	113.0	108.0					8																	121468867		2203	4291	6494	SO:0001587	stop_gained	27085				cell cycle arrest			g.chr8:121468867C>G		CCDS6333.1	8q24.1-q24.2	2014-03-03	2014-03-03		ENSG00000172167	ENSG00000172167			7417	protein-coding gene	gene with protein product		605927	"""MDM2 (mouse double minute 2)-binding protein, 104kD"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa"""			10906133, 11060448	Standard	NM_022045		Approved		uc003ypc.2	Q96DY7	OTTHUMG00000165040	ENST00000305949.1:c.704C>G	8.37:g.121468867C>G	ENSP00000303398:p.Ser235*						p.S235*	NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		7	749	+	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		235					B4DUR5|Q9HA89	Nonsense_Mutation	SNP	ENST00000305949.1	37	c.704C>G	CCDS6333.1	.	.	.	.	.	.	.	.	.	.	C	32	5.176486	0.94846	.	.	ENSG00000172167	ENST00000305949	.	.	.	5.56	5.56	0.83823	.	0.758167	0.12485	N	0.464771	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-0.4752	13.2533	0.60064	0.0:0.9177:0.0:0.0823	.	.	.	.	X	235	.	ENSP00000303398:S235X	S	+	2	0	MTBP	121538048	0.518000	0.26234	0.999000	0.59377	0.986000	0.74619	1.348000	0.33987	2.624000	0.88883	0.453000	0.30009	TCA		0.313	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381530.1	NM_022045		45	104	0	0	0	1	0	45	104				
SBDS	51119	broad.mit.edu	37	7	66456169	66456169	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr7:66456169C>T	ENST00000246868.2	-	4	762	c.579G>A	c.(577-579)ctG>ctA	p.L193L		NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome	193					bone marrow development (GO:0048539)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|inner cell mass cell proliferation (GO:0001833)|leukocyte chemotaxis (GO:0030595)|mature ribosome assembly (GO:0042256)|mitotic spindle stabilization (GO:0043148)|ribosomal large subunit biogenesis (GO:0042273)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|rRNA binding (GO:0019843)			cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						TGACCTTGATCAGTGGCTTGA	0.368			Gene Conversion			"""AML, MDS"""			Shwachman-Diamond syndrome																													ENST00000246868.2			yes	Rec		Schwachman-Diamond syndrome	7	7q11	51119	Gene Conversion	Shwachman-Bodian-Diamond syndrome protein			L		"""AML, MDS"""			0				cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						c.(577-579)ctG>ctA		Shwachman-Bodian-Diamond syndrome							150.0	125.0	134.0					7																	66456169		2203	4300	6503	SO:0001819	synonymous_variant	51119	Shwachman-Diamond syndrome	Familial Cancer Database	Shwachman syndrome, Shwachman-Bodian syndrome, Congenital Lipomatosis of the Pancreas	bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|ribosome binding|rRNA binding	g.chr7:66456169C>T	AF151855	CCDS5537.1	7q11.22	2014-09-17			ENSG00000126524	ENSG00000126524			19440	protein-coding gene	gene with protein product		607444				12496757	Standard	NM_016038		Approved	CGI-97, FLJ10917, SDS, SWDS	uc003tvm.1	Q9Y3A5	OTTHUMG00000023165	ENST00000246868.2:c.579G>A	7.37:g.66456169C>T							p.L193L	NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN			4	762	-			193					A8K0P4|Q96FX0|Q9NV53	Silent	SNP	ENST00000246868.2	37	c.579G>A	CCDS5537.1																																																																																				0.368	SBDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251746.2	NM_016038		14	27	0	0	0	1	0	14	27				
SH3GLB2	56904	broad.mit.edu	37	9	131772411	131772411	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:131772411G>C	ENST00000372564.3	-	8	871	c.726C>G	c.(724-726)atC>atG	p.I242M	SH3GLB2_ENST00000417224.1_Missense_Mutation_p.I242M|SH3GLB2_ENST00000416629.1_Missense_Mutation_p.I221M|SH3GLB2_ENST00000372559.1_Missense_Mutation_p.I242M|SH3GLB2_ENST00000372554.4_Missense_Mutation_p.I246M	NM_020145.2	NP_064530.1	Q9NR46	SHLB2_HUMAN	SH3-domain GRB2-like endophilin B2	242	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.					cytoplasm (GO:0005737)				NS(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)	12						GAGTGCTACTGATTCCCTCCA	0.627																																						ENST00000372564.3																			0				NS(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)	12						c.(724-726)atC>atG		SH3-domain GRB2-like endophilin B2							100.0	92.0	94.0					9																	131772411		2203	4300	6503	SO:0001583	missense	56904				filopodium assembly|signal transduction	cytoplasm|nucleus	cytoskeletal adaptor activity|SH3 domain binding	g.chr9:131772411G>C	AF257319	CCDS6916.1, CCDS69680.1	9q34	2008-02-05	2001-12-04		ENSG00000148341	ENSG00000148341			10834	protein-coding gene	gene with protein product		609288	"""SH3-domain, GRB2-like, endophilin B2"""			11161816	Standard	NM_020145		Approved	KIAA1848	uc004bwv.3	Q9NR46	OTTHUMG00000020769	ENST00000372564.3:c.726C>G	9.37:g.131772411G>C	ENSP00000361645:p.Ile242Met					SH3GLB2_ENST00000372554.4_Missense_Mutation_p.I246M|SH3GLB2_ENST00000417224.1_Missense_Mutation_p.I242M|SH3GLB2_ENST00000416629.1_Missense_Mutation_p.I221M|SH3GLB2_ENST00000372559.1_Missense_Mutation_p.I242M	p.I242M	NM_020145.2	NP_064530.1	Q9NR46	SHLB2_HUMAN			8	871	-			242			BAR.		A6NC47|A8MPS4|Q8WY61|Q96JH9	Missense_Mutation	SNP	ENST00000372564.3	37	c.726C>G	CCDS6916.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.612273	0.66672	.	.	ENSG00000148341	ENST00000372564;ENST00000372559;ENST00000543311;ENST00000372554;ENST00000417224;ENST00000416629	T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23	5.58	2.6	0.31112	BAR (3);	0.000000	0.85682	D	0.000000	T	0.77239	0.4101	M	0.84326	2.69	0.58432	D	0.999995	D;D	0.71674	0.998;0.971	D;P	0.64776	0.929;0.795	T	0.77180	-0.2682	10	0.59425	D	0.04	-8.3233	6.144	0.20275	0.1483:0.0:0.5935:0.2582	.	246;242	Q9NR46-2;Q9NR46	.;SHLB2_HUMAN	M	242;242;246;246;242;221	ENSP00000361645:I242M;ENSP00000361640:I242M;ENSP00000361634:I246M;ENSP00000402566:I242M;ENSP00000388282:I221M	ENSP00000361634:I246M	I	-	3	3	SH3GLB2	130812232	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	2.326000	0.43849	1.361000	0.45981	0.650000	0.86243	ATC		0.627	SH3GLB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054535.2			27	59	0	0	0	1	0	27	59				
NDUFS5	4725	broad.mit.edu	37	1	39500167	39500167	+	Nonstop_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:39500167G>C	ENST00000372969.3	+	3	407	c.320G>C	c.(319-321)tGa>tCa	p.*107S	NDUFS5_ENST00000372967.3_Nonstop_Mutation_p.*107S	NM_004552.2	NP_004543.1	O43920	NDUS5_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase)	0					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|mitochondrial respiratory chain complex I assembly (GO:0032981)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|kidney(1)|large_intestine(2)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.93e-18)			CCTCGGCCCTGAACAGAGCAG	0.507																																						ENST00000372969.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|upper_aerodigestive_tract(1)	5						c.(319-321)tGa>tCa		NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase)	NADH(DB00157)						48.0	45.0	46.0					1																	39500167		2203	4300	6503	SO:0001578	stop_lost	4725				mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr1:39500167G>C	AF047434	CCDS434.1	1p34.2-p33	2011-07-04	2002-08-29		ENSG00000168653	ENSG00000168653		"""Mitochondrial respiratory chain complex / Complex I"""	7712	protein-coding gene	gene with protein product	"""complex I 51kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 5"""	603847	"""NADH dehydrogenase (ubiquinone) Fe-S protein 5 (15kD) (NADH-coenzyme Q reductase)"""			9763677, 9653160	Standard	NM_004552		Approved	CI-15k	uc001ccy.3	O43920	OTTHUMG00000007497	ENST00000372969.3:c.320G>C	1.37:g.39500167G>C	ENSP00000362060:p.*107Serext*10					NDUFS5_ENST00000372967.3_Nonstop_Mutation_p.*107S	p.*107S	NM_004552.2	NP_004543.1	O43920	NDUS5_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.93e-18)		3	407	+	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	0						Nonstop_Mutation	SNP	ENST00000372969.3	37	c.320G>C	CCDS434.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.543303	0.45280	.	.	ENSG00000168653	ENST00000372969;ENST00000372967	.	.	.	5.83	4.92	0.64577	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.8086	0.29217	0.0813:0.0:0.7583:0.1603	.	.	.	.	S	107	.	.	X	+	2	2	NDUFS5	39272754	1.000000	0.71417	1.000000	0.80357	0.626000	0.37791	1.913000	0.39956	1.489000	0.48450	0.650000	0.86243	TGA		0.507	NDUFS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019688.1	NM_004552		33	47	0	0	0	1	0	33	47				
MYOM1	8736	broad.mit.edu	37	18	3116425	3116425	+	Silent	SNP	C	C	T	rs367633441		TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr18:3116425C>T	ENST00000356443.4	-	21	3540	c.3207G>A	c.(3205-3207)ccG>ccA	p.P1069P	MYOM1_ENST00000261606.7_Silent_p.P973P|MYOM1_ENST00000400569.3_Silent_p.P1069P	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1069	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AACCAGTGACCGGAGTCCGCC	0.542																																						ENST00000400569.3																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(3205-3207)ccG>ccA		myomesin 1		C	,	10,3782		0,10,1886	49.0	49.0	49.0		3207,2919	-10.6	0.1	18		49	0,8238		0,0,4119	no	coding-synonymous,coding-synonymous	MYOM1	NM_003803.3,NM_019856.1	,	0,10,6005	TT,TC,CC		0.0,0.2637,0.0831	,	1069/1686,973/1590	3116425	10,12020	1896	4119	6015	SO:0001819	synonymous_variant	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3116425C>T	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.3207G>A	18.37:g.3116425C>T						MYOM1_ENST00000356443.4_Silent_p.P1069P|MYOM1_ENST00000261606.7_Silent_p.P973P	p.P1069P			P52179	MYOM1_HUMAN			21	3540	-			1069			Fibronectin type-III 5.		Q14BD6|Q6H969|Q6ZUU0	Silent	SNP	ENST00000356443.4	37	c.3207G>A	CCDS45824.1																																																																																				0.542	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		5	45	0	0	0	1	0	5	45				
ABTB2	25841	broad.mit.edu	37	11	34182628	34182628	+	Splice_Site	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:34182628C>G	ENST00000435224.2	-	11	2643	c.2219G>C	c.(2218-2220)gGa>gCa	p.G740A	ABTB2_ENST00000298992.2_Splice_Site_p.G554A	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	740					cellular response to toxic substance (GO:0097237)	nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				CCAGGGGACTCCTGGTCCAGG	0.647																																						ENST00000435224.2																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.e11-1		ankyrin repeat and BTB (POZ) domain containing 2							44.0	37.0	39.0					11																	34182628		2202	4297	6499	SO:0001630	splice_region_variant	25841						DNA binding	g.chr11:34182628C>G	AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.2219-1G>C	11.37:g.34182628C>G						ABTB2_ENST00000298992.2_Splice_Site_p.G554_splice	p.G740_splice	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN			11	2643	-		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)	554					A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Splice_Site	SNP	ENST00000435224.2	37	c.2218_splice	CCDS7890.2	.	.	.	.	.	.	.	.	.	.	C	36	5.846097	0.97016	.	.	ENSG00000166016	ENST00000435224;ENST00000298992	T;T	0.67171	-0.24;-0.25	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.82834	0.5123	M	0.81497	2.545	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	D	0.85532	0.1210	10	0.87932	D	0	.	18.6197	0.91317	0.0:1.0:0.0:0.0	.	554	Q8N961	ABTB2_HUMAN	A	740;554	ENSP00000410157:G740A;ENSP00000298992:G554A	ENSP00000298992:G554A	G	-	2	0	ABTB2	34139204	1.000000	0.71417	0.978000	0.43139	0.706000	0.40770	6.089000	0.71384	2.401000	0.81631	0.561000	0.74099	GGA		0.647	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388703.3	NM_145804	Missense_Mutation	11	73	0	0	0	1	0	11	73				
ACTG1P17	283693	broad.mit.edu	37	15	83394962	83394962	+	RNA	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr15:83394962C>G	ENST00000560958.1	-	0	1324				AC105339.2_ENST00000577648.1_RNA	NR_036446.1																						ATTCCAGTTTCCTAAGGCTAG	0.473																																						ENST00000560958.1																			0																																																			283693							g.chr15:83394962C>G																													15.37:g.83394962C>G								NR_036446.1						0	1324	-									RNA	SNP	ENST00000560958.1	37																																																																																						0.473	RP11-752G15.9-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000418414.1			3	3	0	0	0	1	0	3	3				
GUCY1B3	2983	broad.mit.edu	37	4	156710944	156710944	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:156710944G>C	ENST00000264424.8	+	5	458	c.376G>C	c.(376-378)Gaa>Caa	p.E126Q	GUCY1B3_ENST00000505764.1_Missense_Mutation_p.E106Q|GUCY1B3_ENST00000507146.1_Missense_Mutation_p.E58Q|GUCY1B3_ENST00000505154.1_Missense_Mutation_p.E58Q|GUCY1B3_ENST00000502959.1_Missense_Mutation_p.E148Q|GUCY1B3_ENST00000503520.1_Missense_Mutation_p.E126Q|GUCY1B3_ENST00000513437.1_Missense_Mutation_p.E58Q	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	126					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)	cytoplasm (GO:0005737)|guanylate cyclase complex, soluble (GO:0008074)|intracellular membrane-bounded organelle (GO:0043231)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		CACTGATGCAGAAAAGGGCAA	0.468																																						ENST00000264424.8																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(376-378)Gaa>Caa		guanylate cyclase 1, soluble, beta 3							147.0	141.0	143.0					4																	156710944		1949	4143	6092	SO:0001583	missense	2983				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity	g.chr4:156710944G>C	AF020340	CCDS47154.1, CCDS75203.1	4q31.3-q33	2008-03-18			ENSG00000061918	ENSG00000061918	4.6.1.2		4687	protein-coding gene	gene with protein product		139397		GUC1B3		1352257	Standard	XM_005262959		Approved	GC-SB3, GC-S-beta-1	uc003ipc.3	Q02153	OTTHUMG00000161698	ENST00000264424.8:c.376G>C	4.37:g.156710944G>C	ENSP00000264424:p.Glu126Gln					GUCY1B3_ENST00000513437.1_Missense_Mutation_p.E58Q|GUCY1B3_ENST00000503520.1_Missense_Mutation_p.E126Q|GUCY1B3_ENST00000505154.1_Missense_Mutation_p.E58Q|GUCY1B3_ENST00000502959.1_Missense_Mutation_p.E148Q|GUCY1B3_ENST00000505764.1_Missense_Mutation_p.E106Q|GUCY1B3_ENST00000507146.1_Missense_Mutation_p.E58Q	p.E126Q	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN		COAD - Colon adenocarcinoma(41;0.148)	5	458	+	all_hematologic(180;0.24)	Renal(120;0.0854)	126					B7Z426|Q86WY5	Missense_Mutation	SNP	ENST00000264424.8	37	c.376G>C	CCDS47154.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.077900	0.36662	.	.	ENSG00000061918	ENST00000505154;ENST00000502959;ENST00000505764;ENST00000507146;ENST00000264424;ENST00000503520;ENST00000513437	T;T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94;0.94	5.71	5.71	0.89125	Heme-NO binding (1);NO signalling/Golgi transport  ligand-binding domain (1);	0.097634	0.64402	D	0.000002	T	0.43897	0.1268	L	0.45352	1.415	0.47862	D	0.99953	B;B;B;B;B	0.26902	0.137;0.163;0.013;0.113;0.015	B;B;B;B;B	0.35413	0.097;0.202;0.016;0.054;0.048	T	0.18999	-1.0319	10	0.25751	T	0.34	.	19.8579	0.96771	0.0:0.0:1.0:0.0	.	106;148;58;126;126	B7Z426;E9PCN2;D6RC99;Q02153-2;Q02153	.;.;.;.;GCYB1_HUMAN	Q	58;148;106;58;126;126;58	ENSP00000427226:E58Q;ENSP00000426786:E148Q;ENSP00000426319:E106Q;ENSP00000422313:E58Q;ENSP00000264424:E126Q;ENSP00000420842:E126Q;ENSP00000425065:E58Q	ENSP00000264424:E126Q	E	+	1	0	GUCY1B3	156930394	1.000000	0.71417	0.144000	0.22314	0.989000	0.77384	7.803000	0.85983	2.687000	0.91594	0.655000	0.94253	GAA		0.468	GUCY1B3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365770.2			40	90	0	0	0	1	0	40	90				
OR10G7	390265	broad.mit.edu	37	11	123908941	123908941	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:123908941G>A	ENST00000330487.5	-	1	776	c.768C>T	c.(766-768)ttC>ttT	p.F256F		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	256						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TCAGGTAAATGAAAAGACCAG	0.567																																						ENST00000330487.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47						c.(766-768)ttC>ttT		olfactory receptor, family 10, subfamily G, member 7							94.0	83.0	86.0					11																	123908941		2200	4299	6499	SO:0001819	synonymous_variant	390265				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123908941G>A	AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"""GPCR / Class A : Olfactory receptors"""	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.768C>T	11.37:g.123908941G>A							p.F256F	NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	776	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	256					Q6IFE8	Silent	SNP	ENST00000330487.5	37	c.768C>T	CCDS31705.1																																																																																				0.567	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	NM_001004463		8	45	0	0	0	1	0	8	45				
E2F3	1871	broad.mit.edu	37	6	20488383	20488383	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:20488383G>C	ENST00000346618.3	+	6	1105	c.1039G>C	c.(1039-1041)Gag>Cag	p.E347Q	E2F3_ENST00000535432.1_Missense_Mutation_p.E216Q	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	347					mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			AGGGCCCATTGAGGTTTACTT	0.403																																						ENST00000346618.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(1039-1041)Gag>Cag		E2F transcription factor 3							100.0	99.0	100.0					6																	20488383		2203	4300	6503	SO:0001583	missense	1871				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:20488383G>C	Y10479	CCDS4545.1, CCDS58999.1	6p22	2008-08-29			ENSG00000112242	ENSG00000112242			3115	protein-coding gene	gene with protein product		600427				8246996	Standard	NM_001949		Approved		uc003nda.2	O00716	OTTHUMG00000016389	ENST00000346618.3:c.1039G>C	6.37:g.20488383G>C	ENSP00000262904:p.Glu347Gln					E2F3_ENST00000535432.1_Missense_Mutation_p.E216Q	p.E347Q	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)		6	1105	+	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		347					Q15000|Q68DT0|Q9BZ44	Missense_Mutation	SNP	ENST00000346618.3	37	c.1039G>C	CCDS4545.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.991957	0.93167	.	.	ENSG00000112242	ENST00000346618;ENST00000535432	D;D	0.86030	-2.06;-2.06	5.76	5.76	0.90799	.	0.052506	0.85682	D	0.000000	D	0.88858	0.6551	L	0.59436	1.845	0.80722	D	1	D	0.57257	0.979	P	0.60415	0.874	D	0.88057	0.2791	10	0.52906	T	0.07	.	19.9624	0.97256	0.0:0.0:1.0:0.0	.	347	O00716	E2F3_HUMAN	Q	347;216	ENSP00000262904:E347Q;ENSP00000443418:E216Q	ENSP00000262904:E347Q	E	+	1	0	E2F3	20596362	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.950000	0.93019	2.733000	0.93635	0.555000	0.69702	GAG		0.403	E2F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043828.1			54	69	0	0	0	1	0	54	69				
C2CD3	26005	broad.mit.edu	37	11	73872581	73872581	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:73872581C>T	ENST00000334126.7	-	3	572	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	C2CD3_ENST00000313663.7_Missense_Mutation_p.E116K|C2CD3_ENST00000539061.1_Missense_Mutation_p.E116K			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	116					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GTGATTACTTCCAGCACCAGC	0.363																																						ENST00000334126.7																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64						c.(346-348)Gaa>Aaa		C2 calcium-dependent domain containing 3							123.0	121.0	122.0					11																	73872581		2200	4293	6493	SO:0001583	missense	26005					centrosome		g.chr11:73872581C>T	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.346G>A	11.37:g.73872581C>T	ENSP00000334379:p.Glu116Lys					C2CD3_ENST00000313663.7_Missense_Mutation_p.E116K|C2CD3_ENST00000539061.1_Missense_Mutation_p.E116K	p.E116K			Q4AC94	C2CD3_HUMAN			3	572	-	Breast(11;4.16e-06)		116					C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37	c.346G>A		.	.	.	.	.	.	.	.	.	.	C	26.5	4.746338	0.89663	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000289350;ENST00000539061;ENST00000535954	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	5.81	5.81	0.92471	.	0.116034	0.56097	D	0.000024	T	0.79598	0.4473	M	0.64997	1.995	0.49483	D	0.999796	P;P	0.48694	0.914;0.825	B;B	0.43990	0.427;0.438	T	0.82141	-0.0604	10	0.72032	D	0.01	-5.1666	18.851	0.92230	0.0:1.0:0.0:0.0	.	116;116	Q4AC94;Q4AC94-1	C2CD3_HUMAN;.	K	116;116;116;116;116;158	ENSP00000334379:E116K;ENSP00000323339:E116K;ENSP00000445933:E116K;ENSP00000439343:E158K	ENSP00000289350:E116K	E	-	1	0	C2CD3	73550229	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.454000	0.73493	2.747000	0.94245	0.650000	0.86243	GAA		0.363	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		51	33	0	0	0	1	0	51	33				
ECH1	1891	broad.mit.edu	37	19	39321782	39321782	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:39321782C>G	ENST00000221418.4	-	3	517	c.285G>C	c.(283-285)aaG>aaC	p.K95N	ECH1_ENST00000597805.1_5'UTR|AC104534.3_ENST00000594769.1_Missense_Mutation_p.R265T	NM_001398.2	NP_001389.2	Q13011	ECH1_HUMAN	enoyl CoA hydratase 1, peroxisomal	95					fatty acid beta-oxidation (GO:0006635)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	isomerase activity (GO:0016853)|receptor binding (GO:0005102)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	6	all_cancers(60;9.36e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			CTCTCGAAATCTTGTTGAAGC	0.537																																						ENST00000221418.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	6						c.(283-285)aaG>aaC		enoyl CoA hydratase 1, peroxisomal							136.0	121.0	126.0					19																	39321782		2203	4300	6503	SO:0001583	missense	1891							g.chr19:39321782C>G	U16660	CCDS33014.1	19q13.1	2010-04-30	2010-04-30			ENSG00000104823			3149	protein-coding gene	gene with protein product		600696	"""enoyl Coenzyme A hydratase 1, peroxisomal"""			7558027	Standard	XM_005258610		Approved	HPXEL		Q13011		ENST00000221418.4:c.285G>C	19.37:g.39321782C>G	ENSP00000221418:p.Lys95Asn					AC104534.3_ENST00000594769.1_Missense_Mutation_p.R265T|ECH1_ENST00000597805.1_5'UTR	p.K95N	NM_001398.2	NP_001389.2			Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)		3	517	-	all_cancers(60;9.36e-06)|Ovarian(47;0.0454)							A8K745|Q8WVX0|Q96EZ9	Missense_Mutation	SNP	ENST00000221418.4	37	c.285G>C	CCDS33014.1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.784799	0.31593	.	.	ENSG00000104823	ENST00000221418	T	0.69040	-0.37	5.73	4.68	0.58851	Crotonase, core (1);	0.217349	0.43747	D	0.000535	T	0.74397	0.3711	L	0.49455	1.56	0.45477	D	0.998447	D;D	0.89917	1.0;0.957	D;P	0.80764	0.994;0.688	T	0.70684	-0.4804	10	0.22706	T	0.39	.	12.2557	0.54623	0.0:0.9193:0.0:0.0807	.	95;95	B4DVS4;Q13011	.;ECH1_HUMAN	N	95	ENSP00000221418:K95N	ENSP00000221418:K95N	K	-	3	2	ECH1	44013622	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	0.807000	0.27140	1.407000	0.46875	0.655000	0.94253	AAG		0.537	ECH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462650.1			50	71	0	0	0	1	0	50	71				
EPHA2	1969	broad.mit.edu	37	1	16475433	16475433	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:16475433C>T	ENST00000358432.5	-	3	417	c.263G>A	c.(262-264)cGa>cAa	p.R88Q	EPHA2_ENST00000461614.1_5'UTR	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	88	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.|Mediates interaction with CLDN4.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	AGCCTCTCCTCGGTACACCCA	0.532																																						ENST00000358432.5																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(262-264)cGa>cAa		EPH receptor A2	Dasatinib(DB01254)						111.0	94.0	99.0					1																	16475433		2203	4300	6503	SO:0001583	missense	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16475433C>T	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.263G>A	1.37:g.16475433C>T	ENSP00000351209:p.Arg88Gln					EPHA2_ENST00000461614.1_5'UTR	p.R88Q	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	3	417	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	88					B5A968|Q8N3Z2	Missense_Mutation	SNP	ENST00000358432.5	37	c.263G>A	CCDS169.1	.	.	.	.	.	.	.	.	.	.	C	31	5.095720	0.94197	.	.	ENSG00000142627	ENST00000358432	T	0.11604	2.76	5.35	5.35	0.76521	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.53938	D	0.000041	T	0.42921	0.1224	M	0.91140	3.18	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	T	0.53143	-0.8480	10	0.72032	D	0.01	.	16.5455	0.84444	0.0:1.0:0.0:0.0	.	88;88	B5A968;P29317	.;EPHA2_HUMAN	Q	88	ENSP00000351209:R88Q	ENSP00000351209:R88Q	R	-	2	0	EPHA2	16348020	1.000000	0.71417	0.949000	0.38748	0.697000	0.40408	7.814000	0.86154	2.503000	0.84419	0.561000	0.74099	CGA		0.532	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431		6	123	0	0	0	1	0	6	123				
WIPF2	147179	broad.mit.edu	37	17	38416863	38416863	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr17:38416863G>A	ENST00000323571.4	+	3	380	c.140G>A	c.(139-141)gGg>gAg	p.G47E	WIPF2_ENST00000585043.1_Missense_Mutation_p.G47E|WIPF2_ENST00000583130.1_Missense_Mutation_p.G47E|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000394103.3_Missense_Mutation_p.G47E|WIPF2_ENST00000536600.1_Missense_Mutation_p.G47E	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	47	WH2. {ECO:0000255|PROSITE- ProRule:PRU00406}.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						ATTTGCAAAGGGACCAAGCTG	0.517										HNSCC(43;0.11)																												ENST00000323571.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						c.(139-141)gGg>gAg		WAS/WASL interacting protein family, member 2							121.0	99.0	107.0					17																	38416863		2203	4300	6503	SO:0001583	missense	147179					cytoplasm|cytoskeleton	actin binding	g.chr17:38416863G>A	BC025965	CCDS11364.1	17q21.2	2006-10-12			ENSG00000171475	ENSG00000171475			30923	protein-coding gene	gene with protein product		609692				12213210, 11829459	Standard	XM_005257083		Approved	WICH, WIRE	uc002hug.1	Q8TF74	OTTHUMG00000133331	ENST00000323571.4:c.140G>A	17.37:g.38416863G>A	ENSP00000320924:p.Gly47Glu	HNSCC(43;0.11)				WIPF2_ENST00000536600.1_Missense_Mutation_p.G47E|WIPF2_ENST00000585043.1_Missense_Mutation_p.G47E|WIPF2_ENST00000394103.3_Missense_Mutation_p.G47E|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000583130.1_Missense_Mutation_p.G47E	p.G47E	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN			3	380	+			47			WH2.		A8K0L3|Q658J8|Q71RE1|Q8TE44	Missense_Mutation	SNP	ENST00000323571.4	37	c.140G>A	CCDS11364.1	.	.	.	.	.	.	.	.	.	.	G	34	5.401712	0.96030	.	.	ENSG00000171475	ENST00000323571;ENST00000394103;ENST00000536600	T;T;T	0.75050	-0.9;-0.9;-0.9	5.65	5.65	0.86999	Actin-binding WH2 (2);	0.000000	0.85682	D	0.000000	D	0.90683	0.7077	H	0.94385	3.53	0.41508	D	0.988323	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.92875	0.6318	10	0.87932	D	0	-10.3432	19.7151	0.96113	0.0:0.0:1.0:0.0	.	47;47	A8MWR2;Q8TF74	.;WIPF2_HUMAN	E	47	ENSP00000320924:G47E;ENSP00000377663:G47E;ENSP00000439175:G47E	ENSP00000320924:G47E	G	+	2	0	WIPF2	35670389	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.851000	0.92205	2.662000	0.90505	0.484000	0.47621	GGG		0.517	WIPF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257157.2	NM_133264		36	90	0	0	0	1	0	36	90				
CLDN12	9069	broad.mit.edu	37	7	90042712	90042712	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr7:90042712C>T	ENST00000287916.4	+	3	1009	c.722C>T	c.(721-723)tCa>tTa	p.S241L	CTB-13L3.1_ENST00000480135.1_RNA|CLDN12_ENST00000394605.2_Missense_Mutation_p.S241L|CLDN12_ENST00000535571.1_Missense_Mutation_p.S241L	NM_001185073.2|NM_012129.4	NP_001172002.1|NP_036261.1	P56749	CLD12_HUMAN	claudin 12	241					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			breast(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)	15						CCAGTAGTTTCACACACCACT	0.423																																						ENST00000535571.1																			0				breast(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)	15						c.(721-723)tCa>tTa		claudin 12							94.0	90.0	92.0					7																	90042712		2202	4292	6494	SO:0001583	missense	9069				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr7:90042712C>T	AJ250713	CCDS5618.1	7q21	2008-07-18			ENSG00000157224	ENSG00000157224		"""Claudins"""	2034	protein-coding gene	gene with protein product		611232					Standard	NM_001185072		Approved		uc003ukr.3	P56749	OTTHUMG00000156612	ENST00000287916.4:c.722C>T	7.37:g.90042712C>T	ENSP00000287916:p.Ser241Leu					CLDN12_ENST00000287916.4_Missense_Mutation_p.S241L|CLDN12_ENST00000394605.2_Missense_Mutation_p.S241L	p.S241L	NM_001185072.2	NP_001172001.1	P56749	CLD12_HUMAN			2	1031	+			241					D6W5Q4|Q7LDZ0	Missense_Mutation	SNP	ENST00000287916.4	37	c.722C>T	CCDS5618.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.175056	0.57692	.	.	ENSG00000157224	ENST00000496677;ENST00000287916;ENST00000535571;ENST00000394605	T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87	5.55	4.63	0.57726	.	0.113510	0.64402	D	0.000014	T	0.57242	0.2040	N	0.08118	0	0.37879	D	0.930337	B	0.28291	0.206	B	0.25140	0.058	T	0.64296	-0.6441	10	0.72032	D	0.01	-10.1908	16.6312	0.85033	0.0:0.8707:0.1293:0.0	.	241	P56749	CLD12_HUMAN	L	241	ENSP00000419053:S241L;ENSP00000287916:S241L;ENSP00000443476:S241L;ENSP00000378103:S241L	ENSP00000287916:S241L	S	+	2	0	CLDN12	89880648	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	3.346000	0.52190	2.885000	0.99019	0.655000	0.94253	TCA		0.423	CLDN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059221.1	NM_012129		50	84	0	0	0	1	0	50	84				
FILIP1L	11259	broad.mit.edu	37	3	99567229	99567229	+	Silent	SNP	G	G	A	rs191265397		TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:99567229G>A	ENST00000354552.3	-	5	3761	c.3291C>T	c.(3289-3291)aaC>aaT	p.N1097N	FILIP1L_ENST00000487087.1_Silent_p.N673N|FILIP1L_ENST00000383694.2_Silent_p.N857N|FILIP1L_ENST00000331335.5_Silent_p.N1097N|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000471562.1_Silent_p.N857N	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	1097						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TTAGTGCCCCGTTAATTAAGC	0.453																																						ENST00000331335.5																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(3289-3291)aaC>aaT		filamin A interacting protein 1-like							321.0	316.0	317.0					3																	99567229		2013	4181	6194	SO:0001819	synonymous_variant	11259					cytoplasm|membrane|myosin complex|nucleus		g.chr3:99567229G>A		CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"""downregulated in ovarian cancer 1"", ""GPBP-interacting protein of 130 kDa"""	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.3291C>T	3.37:g.99567229G>A						FILIP1L_ENST00000471562.1_Silent_p.N857N|FILIP1L_ENST00000354552.3_Silent_p.N1097N|FILIP1L_ENST00000487087.1_Silent_p.N673N|FILIP1L_ENST00000383694.2_Silent_p.N857N|FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000496116.1_Intron|CMSS1_ENST00000421999.2_Intron	p.N1097N	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN			5	3761	-			1097					B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Silent	SNP	ENST00000354552.3	37	c.3291C>T	CCDS43117.1																																																																																				0.453	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	NM_014890		13	253	0	0	0	1	0	13	253				
KIF22	3835	broad.mit.edu	37	16	29810702	29810702	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:29810702G>C	ENST00000160827.4	+	6	917	c.877G>C	c.(877-879)Gag>Cag	p.E293Q	KIF22_ENST00000561482.1_Missense_Mutation_p.E225Q|KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000400751.5_Missense_Mutation_p.E225Q|KIF22_ENST00000569382.2_Missense_Mutation_p.E225Q|KIF22_ENST00000563263.1_3'UTR	NM_001256269.1|NM_007317.2	NP_001243198.1|NP_015556.1	Q14807	KIF22_HUMAN	kinesin family member 22	293	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA repair (GO:0006281)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						TCGGCTAAAAGAGAGTGGAGC	0.562																																						ENST00000561482.1																			0				endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						c.(673-675)Gag>Cag		kinesin family member 22							85.0	82.0	83.0					16																	29810702		2197	4300	6497	SO:0001583	missense	3835				blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding	g.chr16:29810702G>C	D38751	CCDS10653.1, CCDS58444.1	16p11.2	2008-03-03	2003-01-09	2003-01-10	ENSG00000079616	ENSG00000079616		"""Kinesins"""	6391	protein-coding gene	gene with protein product		603213	"""kinesin-like 4"""	KNSL4		8599929, 11416179	Standard	NM_007317		Approved	Kid, OBP-1, OBP-2	uc002dts.4	Q14807	OTTHUMG00000097771	ENST00000160827.4:c.877G>C	16.37:g.29810702G>C	ENSP00000160827:p.Glu293Gln					KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000400751.5_Missense_Mutation_p.E225Q|KIF22_ENST00000563263.1_3'UTR|KIF22_ENST00000569382.2_Missense_Mutation_p.E225Q|KIF22_ENST00000160827.4_Missense_Mutation_p.E293Q	p.E225Q	NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN			6	1310	+			293			Kinesin-motor.		B2R5M0|B7Z265|O60845|O94814|Q53F58|Q9BT46	Missense_Mutation	SNP	ENST00000160827.4	37	c.673G>C	CCDS10653.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.536599	0.85812	.	.	ENSG00000079616	ENST00000160827;ENST00000400751	D;D	0.85088	-1.94;-1.94	5.82	5.82	0.92795	Kinesin, motor domain (4);	.	.	.	.	D	0.94532	0.8239	M	0.93978	3.48	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95392	0.8482	9	0.87932	D	0	.	17.5712	0.87934	0.0:0.0:1.0:0.0	.	225;293	B7Z265;Q14807	.;KIF22_HUMAN	Q	293;225	ENSP00000160827:E293Q;ENSP00000383562:E225Q	ENSP00000160827:E293Q	E	+	1	0	KIF22	29718203	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	8.557000	0.90700	2.750000	0.94351	0.561000	0.74099	GAG		0.562	KIF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215012.2			11	81	0	0	0	1	0	11	81				
CCDC178	374864	broad.mit.edu	37	18	30926233	30926233	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr18:30926233C>T	ENST00000383096.3	-	9	782	c.600G>A	c.(598-600)atG>atA	p.M200I	CCDC178_ENST00000402325.1_Missense_Mutation_p.M200I|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000300227.8_Missense_Mutation_p.M200I|CCDC178_ENST00000406524.2_Missense_Mutation_p.M200I|CCDC178_ENST00000583930.1_Missense_Mutation_p.M200I|CCDC178_ENST00000403303.1_Missense_Mutation_p.M200I|CCDC178_ENST00000579947.1_Missense_Mutation_p.M200I			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	200																	AGTCAATTTTCATGTTAATCA	0.383																																						ENST00000383096.3																			0											c.(598-600)atG>atA		coiled-coil domain containing 178							115.0	115.0	115.0					18																	30926233		2203	4300	6503	SO:0001583	missense	374864							g.chr18:30926233C>T	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.600G>A	18.37:g.30926233C>T	ENSP00000372576:p.Met200Ile					CCDC178_ENST00000300227.8_Missense_Mutation_p.M200I|CCDC178_ENST00000579947.1_Missense_Mutation_p.M200I|CCDC178_ENST00000402325.1_Missense_Mutation_p.M200I|CCDC178_ENST00000403303.1_Missense_Mutation_p.M200I|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000583930.1_Missense_Mutation_p.M200I|CCDC178_ENST00000406524.2_Missense_Mutation_p.M200I	p.M200I							9	782	-								A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	ENST00000383096.3	37	c.600G>A	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	C	1.367	-0.587261	0.03799	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325;ENST00000399177	T;T;T;T;T;T	0.46819	2.44;2.44;2.44;2.44;2.44;0.86	5.59	1.78	0.24846	.	.	.	.	.	T	0.36552	0.0971	L	0.46157	1.445	0.09310	N	1	B;B;B;B	0.19200	0.032;0.034;0.02;0.02	B;B;B;B	0.21151	0.033;0.013;0.008;0.008	T	0.29852	-0.9998	9	0.39692	T	0.17	0.3788	4.2991	0.10916	0.1485:0.5319:0.0:0.3195	.	200;200;200;200	F8W7A7;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;CR034_HUMAN	I	200	ENSP00000385591:M200I;ENSP00000372576:M200I;ENSP00000300227:M200I;ENSP00000385867:M200I;ENSP00000385234:M200I;ENSP00000382130:M200I	ENSP00000300227:M200I	M	-	3	0	C18orf34	29180231	0.005000	0.15991	0.069000	0.20011	0.133000	0.20885	-0.143000	0.10296	0.041000	0.15688	-0.262000	0.10625	ATG		0.383	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995		16	62	0	0	0	1	0	16	62				
ACP7	390928	broad.mit.edu	37	19	39591819	39591819	+	Silent	SNP	C	C	T	rs548565452	byFrequency	TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:39591819C>T	ENST00000331256.5	+	9	1219	c.945C>T	c.(943-945)taC>taT	p.Y315Y	PAPL_ENST00000594229.1_Missense_Mutation_p.T274M	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN		315						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)|metal ion binding (GO:0046872)										GCAAGCTGTACGGGTTGGAGG	0.597													C|||	2	0.000399361	0.0	0.0	5008	,	,		14868	0.0		0.0	False		,,,				2504	0.002					ENST00000594229.1																			0											c.(820-822)aCg>aTg									57.0	51.0	53.0					19																	39591819		2203	4300	6503	SO:0001819	synonymous_variant	390928					extracellular region	acid phosphatase activity|metal ion binding	g.chr19:39591819C>T																												ENST00000331256.5:c.945C>T	19.37:g.39591819C>T						PAPL_ENST00000331256.5_Silent_p.Y315Y	p.T274M			Q6ZNF0	PAPL_HUMAN			7	855	+			0					B2RN68	Missense_Mutation	SNP	ENST00000331256.5	37	c.821C>T	CCDS33018.1																																																																																				0.597	PAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463810.1			15	26	0	0	0	1	0	15	26				
CEP350	9857	broad.mit.edu	37	1	180063194	180063194	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:180063194C>T	ENST00000367607.3	+	34	8372	c.7954C>T	c.(7954-7956)Cac>Tac	p.H2652Y	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2652					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AGCCCATGTTCACCAGCAGTC	0.403																																						ENST00000367607.3																			0				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(7954-7956)Cac>Tac		centrosomal protein 350kDa							44.0	45.0	45.0					1																	180063194		2203	4300	6503	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:180063194C>T	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.7954C>T	1.37:g.180063194C>T	ENSP00000356579:p.His2652Tyr					CEP350_ENST00000490141.1_3'UTR	p.H2652Y	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN			34	8372	+			2652					O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.7954C>T	CCDS1336.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.663|7.663	0.685393|0.685393	0.14973|0.14973	.|.	.|.	ENSG00000135837|ENSG00000135837	ENST00000367607;ENST00000417046|ENST00000429851	T|.	0.57107|.	0.42|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.153645|.	0.30510|.	N|.	0.009467|.	T|T	0.53769|0.53769	0.1817|0.1817	L|L	0.51422|0.51422	1.61|1.61	0.28404|0.28404	N|N	0.918512|0.918512	B;B|.	0.31730|.	0.337;0.337|.	B;B|.	0.29176|.	0.099;0.099|.	T|T	0.50550|0.50550	-0.8815|-0.8815	9|5	.|.	.|.	.|.	.|.	15.1687|15.1687	0.72850|0.72850	0.0:0.8592:0.1407:0.0|0.0:0.8592:0.1407:0.0	.|.	2652;2652|.	E7EU22;Q5VT06|.	.;CE350_HUMAN|.	Y|L	2652;116|826	ENSP00000356579:H2652Y|.	.|.	H|S	+|+	1|2	0|0	CEP350|CEP350	178329817|178329817	0.066000|0.066000	0.20996|0.20996	0.906000|0.906000	0.35671|0.35671	0.971000|0.971000	0.66376|0.66376	0.372000|0.372000	0.20467|0.20467	2.639000|2.639000	0.89480|0.89480	0.591000|0.591000	0.81541|0.81541	CAC|TCA		0.403	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		15	23	0	0	0	1	0	15	23				
MUC5B	727897	broad.mit.edu	37	11	1268886	1268886	+	Silent	SNP	C	C	T	rs368451919	byFrequency	TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:1268886C>T	ENST00000529681.1	+	31	10834	c.10776C>T	c.(10774-10776)ggC>ggT	p.G3592G	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.G3595G	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3592	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)		GGCCCTCTGGCGGGGACTTTG	0.682													-|||	2	0.000399361	0.0	0.0029	5008	,	,		13044	0.0		0.0	False		,,,				2504	0.0					ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(10783-10785)ggC>ggT		mucin 5B, oligomeric mucus/gel-forming		C		0,3564		0,0,1782	11.0	16.0	15.0		10776	-7.9	0.0	11		15	4,7974		0,4,3985	no	coding-synonymous	MUC5B	NM_002458.2		0,4,5767	TT,TC,CC		0.0501,0.0,0.0347		3592/5763	1268886	4,11538	1782	3989	5771	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1268886C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.10776C>T	11.37:g.1268886C>T						RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.G3592G	p.G3595G			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	10843	+		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)	3592	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.10785C>T	CCDS44515.2																																																																																				0.682	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		37	33	0	0	0	1	0	37	33				
SRRM2	23524	broad.mit.edu	37	16	2814872	2814872	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:2814872G>C	ENST00000301740.8	+	11	4892	c.4343G>C	c.(4342-4344)aGa>aCa	p.R1448T		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1448	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CCAGGACTTAGAGATGGGTCT	0.493																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(4342-4344)aGa>aCa		serine/arginine repetitive matrix 2							89.0	91.0	91.0					16																	2814872		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2814872G>C	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.4343G>C	16.37:g.2814872G>C	ENSP00000301740:p.Arg1448Thr						p.R1448T	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			11	4892	+			1448			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.4343G>C	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	10.44	1.351575	0.24512	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.27890	1.64	5.82	4.78	0.61160	.	0.096756	0.46442	D	0.000292	T	0.17238	0.0414	L	0.29908	0.895	0.28373	N	0.919891	B	0.33694	0.421	B	0.24848	0.056	T	0.14144	-1.0483	10	0.66056	D	0.02	-13.522	4.311	0.10971	0.1275:0.0:0.6447:0.2277	.	1448	Q9UQ35	SRRM2_HUMAN	T	1448;1448;700	ENSP00000301740:R1448T	ENSP00000301740:R1448T	R	+	2	0	SRRM2	2754873	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.890000	0.48609	2.767000	0.95098	0.655000	0.94253	AGA		0.493	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			8	184	0	0	0	1	0	8	184				
ADAMTS3	9508	broad.mit.edu	37	4	73148854	73148854	+	Nonstop_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:73148854C>G	ENST00000286657.4	-	22	3653	c.3617G>C	c.(3616-3618)tGa>tCa	p.*1206S		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	0					collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTCACTTTCTCATCTTTCTAA	0.413																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(3616-3618)tGa>tCa		ADAM metallopeptidase with thrombospondin type 1 motif, 3							101.0	95.0	97.0					4																	73148854		2203	4300	6503	SO:0001578	stop_lost	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73148854C>G	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.3617G>C	4.37:g.73148854C>G							p.*1206S	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		22	3653	-			0					A1L3U9|Q9BXZ8	Nonstop_Mutation	SNP	ENST00000286657.4	37	c.3617G>C	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	C	8.119	0.780469	0.16120	.	.	ENSG00000156140	ENST00000286657	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0119	0.97458	0.0:1.0:0.0:0.0	.	.	.	.	S	1206	.	.	X	-	2	2	ADAMTS3	73367718	1.000000	0.71417	1.000000	0.80357	0.114000	0.19823	4.089000	0.57685	2.733000	0.93635	0.591000	0.81541	TGA		0.413	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			6	76	0	0	0	1	0	6	76				
ZCCHC9	84240	broad.mit.edu	37	5	80604854	80604854	+	Missense_Mutation	SNP	G	G	A	rs148607166		TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr5:80604854G>A	ENST00000254037.2	+	3	3780	c.625G>A	c.(625-627)Gat>Aat	p.D209N	ZCCHC9_ENST00000438268.2_Missense_Mutation_p.D209N|ZCCHC9_ENST00000407610.3_Missense_Mutation_p.D209N|ZCCHC9_ENST00000380199.5_Missense_Mutation_p.D209N|ZCCHC9_ENST00000506458.1_3'UTR			Q8N567	ZCHC9_HUMAN	zinc finger, CCHC domain containing 9	209					negative regulation of phosphatase activity (GO:0010923)		poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)		ACTCTATGCTGATGGTAAGTA	0.373													G|||	1	0.000199681	0.0	0.0	5008	,	,		15941	0.0		0.001	False		,,,				2504	0.0					ENST00000254037.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13						c.(625-627)Gat>Aat		zinc finger, CCHC domain containing 9							105.0	93.0	97.0					5																	80604854		2203	4300	6503	SO:0001583	missense	84240						nucleic acid binding|zinc ion binding	g.chr5:80604854G>A	BC014841	CCDS4054.1	5q14.1	2013-01-09			ENSG00000131732	ENSG00000131732		"""Zinc fingers, CCHC domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25424	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 41"""					12477932	Standard	NM_032280		Approved	DKFZp761J139, PPP1R41	uc003khi.3	Q8N567	OTTHUMG00000119014	ENST00000254037.2:c.625G>A	5.37:g.80604854G>A	ENSP00000254037:p.Asp209Asn					ZCCHC9_ENST00000506458.1_3'UTR|ZCCHC9_ENST00000438268.2_Missense_Mutation_p.D209N|ZCCHC9_ENST00000380199.5_Missense_Mutation_p.D209N|ZCCHC9_ENST00000407610.3_Missense_Mutation_p.D209N	p.D209N			Q8N567	ZCHC9_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)	3	3780	+		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)	209					B2RAE7|Q9H027	Missense_Mutation	SNP	ENST00000254037.2	37	c.625G>A	CCDS4054.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	12.96	2.093215	0.36952	.	.	ENSG00000131732	ENST00000254037;ENST00000407610;ENST00000380199;ENST00000438268	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.82	5.82	0.92795	Zinc finger, CCHC retroviral-type (1);	0.188511	0.56097	D	0.000032	T	0.25680	0.0625	N	0.12182	0.205	0.37769	D	0.926627	B	0.23316	0.083	B	0.17979	0.02	T	0.15925	-1.0420	10	0.13108	T	0.6	-23.8199	16.0148	0.80430	0.0:0.1345:0.8655:0.0	.	209	Q8N567	ZCHC9_HUMAN	N	209	ENSP00000254037:D209N;ENSP00000385047:D209N;ENSP00000369546:D209N;ENSP00000412637:D209N	ENSP00000254037:D209N	D	+	1	0	ZCCHC9	80640610	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.856000	0.62932	2.760000	0.94817	0.655000	0.94253	GAT		0.373	ZCCHC9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239213.1	NM_032280		24	17	0	0	0	1	0	24	17				
FZD6	8323	broad.mit.edu	37	8	104342132	104342132	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr8:104342132G>A	ENST00000358755.4	+	6	2108	c.1791G>A	c.(1789-1791)atG>atA	p.M597I	FZD6_ENST00000522566.1_Missense_Mutation_p.M597I|FZD6_ENST00000540287.1_Missense_Mutation_p.M292I|FZD6_ENST00000523739.1_Missense_Mutation_p.M565I	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled class receptor 6	597					angiogenesis (GO:0001525)|axonogenesis (GO:0007409)|cell proliferation in midbrain (GO:0033278)|embryonic nail plate morphogenesis (GO:0035880)|establishment of planar polarity (GO:0001736)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|platelet activation (GO:0030168)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			AAACATCAATGAGAGAGGTGA	0.498																																						ENST00000358755.4																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(1789-1791)atG>atA		frizzled family receptor 6							77.0	65.0	69.0					8																	104342132		2203	4300	6503	SO:0001583	missense	8323				angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr8:104342132G>A	AB012911	CCDS6298.1, CCDS55268.1	8q22.3-q23.1	2014-01-29	2014-01-29		ENSG00000164930	ENSG00000164930		"""GPCR / Class F : Frizzled receptors"""	4044	protein-coding gene	gene with protein product		603409	"""frizzled (Drosophila) homolog 6"", ""frizzled homolog 6 (Drosophila)"", ""frizzled 6, seven transmembrane spanning receptor"", ""frizzled family receptor 6"""			9480858, 14747478	Standard	NM_003506		Approved	Hfz6	uc003ylh.3	O60353	OTTHUMG00000164840	ENST00000358755.4:c.1791G>A	8.37:g.104342132G>A	ENSP00000351605:p.Met597Ile					FZD6_ENST00000540287.1_Missense_Mutation_p.M292I|FZD6_ENST00000523739.1_Missense_Mutation_p.M565I|FZD6_ENST00000522566.1_Missense_Mutation_p.M597I	p.M597I	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)		6	2108	+			597					B4DRN0|Q6N0A5|Q6P9C3|Q8WXR9	Missense_Mutation	SNP	ENST00000358755.4	37	c.1791G>A	CCDS6298.1	.	.	.	.	.	.	.	.	.	.	G	8.328	0.825896	0.16749	.	.	ENSG00000164930	ENST00000522566;ENST00000358755;ENST00000523739;ENST00000540287;ENST00000539487	T;T;T;T	0.74842	-0.85;-0.85;-0.88;-0.8	5.4	2.57	0.30868	.	0.962489	0.08690	N	0.908104	T	0.49847	0.1581	N	0.08118	0	0.24957	N	0.991757	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.36040	-0.9764	10	0.19590	T	0.45	.	3.8363	0.08896	0.1422:0.1308:0.5917:0.1353	.	542;292;597	B4E236;F5H831;O60353	.;.;FZD6_HUMAN	I	597;597;565;292;542	ENSP00000429055:M597I;ENSP00000351605:M597I;ENSP00000429528:M565I;ENSP00000443757:M292I	ENSP00000351605:M597I	M	+	3	0	FZD6	104411308	1.000000	0.71417	0.983000	0.44433	0.469000	0.32828	1.485000	0.35519	0.739000	0.32628	0.561000	0.74099	ATG		0.498	FZD6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380560.1	NM_003506		21	53	0	0	0	1	0	21	53				
AVPI1	60370	broad.mit.edu	37	10	99439458	99439458	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr10:99439458C>G	ENST00000370626.3	-	2	772	c.205G>C	c.(205-207)Gag>Cag	p.E69Q		NM_021732.2	NP_068378.2	Q5T686	AVPI1_HUMAN	arginine vasopressin-induced 1	69					activation of MAPK activity (GO:0000187)|cell cycle (GO:0007049)					breast(1)|endometrium(1)|large_intestine(2)|skin(1)	5		Colorectal(252;0.162)		Epithelial(162;8.37e-11)|all cancers(201;7.94e-09)		TTGAGGGCCTCAGCCACACGG	0.642																																						ENST00000370626.3																			0				breast(1)|endometrium(1)|large_intestine(2)|skin(1)	5						c.(205-207)Gag>Cag		arginine vasopressin-induced 1							42.0	33.0	36.0					10																	99439458		2203	4300	6503	SO:0001583	missense	60370				cell cycle			g.chr10:99439458C>G	AF131791	CCDS7470.1	10q24.2	2004-04-05			ENSG00000119986	ENSG00000119986			30898	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_021732		Approved	VIP32, PP5395, VIT32	uc001koi.2	Q5T686	OTTHUMG00000018864	ENST00000370626.3:c.205G>C	10.37:g.99439458C>G	ENSP00000359660:p.Glu69Gln						p.E69Q	NM_021732.2	NP_068378.2	Q5T686	AVPI1_HUMAN		Epithelial(162;8.37e-11)|all cancers(201;7.94e-09)	2	772	-		Colorectal(252;0.162)	69					Q53G32|Q9H2R9|Q9HBN9	Missense_Mutation	SNP	ENST00000370626.3	37	c.205G>C	CCDS7470.1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.278897	0.40294	.	.	ENSG00000119986	ENST00000370626	T	0.30981	1.51	5.09	3.25	0.37280	.	.	.	.	.	T	0.19005	0.0456	N	0.25647	0.755	0.22531	N	0.999016	B	0.24823	0.112	B	0.23852	0.049	T	0.27400	-1.0075	9	0.18276	T	0.48	10.8841	6.9845	0.24721	0.0:0.6985:0.1434:0.1582	.	69	Q5T686	AVPI1_HUMAN	Q	69	ENSP00000359660:E69Q	ENSP00000359660:E69Q	E	-	1	0	AVPI1	99429448	0.718000	0.27976	0.538000	0.28064	0.963000	0.63663	0.961000	0.29267	0.736000	0.32559	0.561000	0.74099	GAG		0.642	AVPI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049736.1	NM_021732		3	52	0	0	0	1	0	3	52				
ABCC5	10057	broad.mit.edu	37	3	183679424	183679424	+	Nonsense_Mutation	SNP	C	C	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:183679424C>A	ENST00000334444.6	-	16	2494	c.2254G>T	c.(2254-2256)Gaa>Taa	p.E752*	ABCC5_ENST00000265586.6_Nonsense_Mutation_p.E752*	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	752	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	AAGATCACTTCATCACAGTCA	0.388																																						ENST00000334444.6																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(2254-2256)Gaa>Taa		ATP-binding cassette, sub-family C (CFTR/MRP), member 5							123.0	120.0	121.0					3																	183679424		1953	4156	6109	SO:0001587	stop_gained	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183679424C>A	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.2254G>T	3.37:g.183679424C>A	ENSP00000333926:p.Glu752*					ABCC5_ENST00000265586.6_Nonsense_Mutation_p.E752*	p.E752*	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		16	2494	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		752			ABC transporter 1.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Nonsense_Mutation	SNP	ENST00000334444.6	37	c.2254G>T	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	C	37	6.198464	0.97367	.	.	ENSG00000114770	ENST00000334444;ENST00000382495;ENST00000265586	.	.	.	5.51	2.49	0.30216	.	0.343776	0.33834	N	0.004513	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-10.186	12.6393	0.56700	0.0:0.6999:0.2333:0.0669	.	.	.	.	X	752;688;752	.	ENSP00000265586:E752X	E	-	1	0	ABCC5	185162118	1.000000	0.71417	0.978000	0.43139	0.639000	0.38242	1.966000	0.40481	0.678000	0.31325	0.591000	0.81541	GAA		0.388	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		106	67	1	0	1.76042e-48	1	1.86474e-48	106	67				
CST3	1471	broad.mit.edu	37	20	23615922	23615922	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr20:23615922C>T	ENST00000398411.1	-	2	408	c.326G>A	c.(325-327)tGc>tAc	p.C109Y	CST3_ENST00000398409.1_Missense_Mutation_p.C109Y|CST3_ENST00000376925.3_Missense_Mutation_p.C109Y|RP11-218C14.8_ENST00000602977.1_lincRNA			P01034	CYTC_HUMAN	cystatin C	109					apoptotic process (GO:0006915)|brain development (GO:0007420)|cell activation (GO:0001775)|cellular response to hydrogen peroxide (GO:0070301)|circadian sleep/wake cycle, REM sleep (GO:0042747)|defense response (GO:0006952)|embryo implantation (GO:0007566)|extracellular fibril organization (GO:0043206)|eye development (GO:0001654)|negative regulation of blood vessel remodeling (GO:0060313)|negative regulation of cell death (GO:0060548)|negative regulation of collagen catabolic process (GO:0010711)|negative regulation of elastin catabolic process (GO:0060311)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extracellular matrix disassembly (GO:0010716)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|regulation of programmed cell death (GO:0043067)|regulation of tissue remodeling (GO:0034103)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient levels (GO:0031667)|response to toxic substance (GO:0009636)|salivary gland development (GO:0007431)|Sertoli cell development (GO:0060009)	basement membrane (GO:0005604)|cell projection (GO:0042995)|contractile fiber (GO:0043292)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	beta-amyloid binding (GO:0001540)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|protease binding (GO:0002020)			large_intestine(2)|lung(1)|ovary(1)	4	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					ATGGAAGGGGCAGTTGTCCAA	0.542																																						ENST00000398411.1																			0				large_intestine(2)|lung(1)|ovary(1)	4						c.(325-327)tGc>tAc		cystatin C							218.0	171.0	187.0					20																	23615922		2203	4300	6503	SO:0001583	missense	1471				defense response|fibril organization|negative regulation of blood vessel remodeling|negative regulation of collagen catabolic process|negative regulation of elastin catabolic process|negative regulation of extracellular matrix disassembly	extracellular space	beta-amyloid binding|cysteine-type endopeptidase inhibitor activity|protease binding	g.chr20:23615922C>T		CCDS13158.1	20p11.2	2008-04-15	2008-04-15		ENSG00000101439	ENSG00000101439			2475	protein-coding gene	gene with protein product		604312	"""cystatin C (amyloid angiopathy and cerebral hemorrhage)"""			8486384	Standard	NM_000099		Approved		uc002wtn.1	P01034	OTTHUMG00000032080	ENST00000398411.1:c.326G>A	20.37:g.23615922C>T	ENSP00000381448:p.Cys109Tyr					CST3_ENST00000398409.1_Missense_Mutation_p.C109Y|CST3_ENST00000376925.3_Missense_Mutation_p.C109Y	p.C109Y			P01034	CYTC_HUMAN			2	408	-	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)		109					B2R5J9|D3DW42|Q6FGW9	Missense_Mutation	SNP	ENST00000398411.1	37	c.326G>A	CCDS13158.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.958885	0.53400	.	.	ENSG00000101439	ENST00000398411;ENST00000376925;ENST00000398409	D;D;D	0.89415	-2.51;-2.51;-2.51	4.08	4.08	0.47627	Proteinase inhibitor I25, cystatin (2);	0.000000	0.85682	U	0.000000	D	0.96009	0.8700	H	0.96916	3.905	0.53688	D	0.999972	D	0.89917	1.0	D	0.97110	1.0	D	0.96755	0.9557	10	0.87932	D	0	.	12.1373	0.53979	0.0:1.0:0.0:0.0	.	109	P01034	CYTC_HUMAN	Y	109	ENSP00000381448:C109Y;ENSP00000366124:C109Y;ENSP00000381446:C109Y	ENSP00000366124:C109Y	C	-	2	0	CST3	23563922	1.000000	0.71417	0.802000	0.32245	0.658000	0.38924	3.570000	0.53834	1.988000	0.58038	0.484000	0.47621	TGC		0.542	CST3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256831.1	NM_000099		13	44	0	0	0	1	0	13	44				
CTNNAL1	8727	broad.mit.edu	37	9	111745477	111745477	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:111745477C>G	ENST00000325551.4	-	6	934	c.848G>C	c.(847-849)gGa>gCa	p.G283A	CTNNAL1_ENST00000374595.4_Missense_Mutation_p.G283A|CTNNAL1_ENST00000325580.6_Missense_Mutation_p.G283A	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	283					cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		GTCAGTCTCTCCATTCGGTTT	0.318																																						ENST00000374595.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25						c.(847-849)gGa>gCa		catenin (cadherin-associated protein), alpha-like 1							133.0	121.0	125.0					9																	111745477		2202	4300	6502	SO:0001583	missense	8727				cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity	g.chr9:111745477C>G	AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"""alpha-catulin"", ""alpha2-catulin"""	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.848G>C	9.37:g.111745477C>G	ENSP00000320434:p.Gly283Ala					CTNNAL1_ENST00000325551.4_Missense_Mutation_p.G283A|CTNNAL1_ENST00000325580.6_Missense_Mutation_p.G283A	p.G283A			Q9UBT7	CTNL1_HUMAN		STAD - Stomach adenocarcinoma(157;0.0768)	6	927	-			283					B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Missense_Mutation	SNP	ENST00000325551.4	37	c.848G>C	CCDS6775.1	.	.	.	.	.	.	.	.	.	.	C	9.871	1.198923	0.22121	.	.	ENSG00000119326	ENST00000374595;ENST00000325551;ENST00000325580	T;T;T	0.27402	1.69;1.83;1.67	5.91	4.96	0.65561	.	0.097482	0.64402	D	0.000001	T	0.24736	0.0600	L	0.36672	1.1	0.80722	D	1	B;P;B;B	0.51537	0.284;0.946;0.005;0.284	B;B;B;B	0.43155	0.119;0.41;0.013;0.119	T	0.01697	-1.1293	10	0.12103	T	0.63	-11.7788	14.282	0.66219	0.0:0.8502:0.1498:0.0	.	283;283;283;283	B2RBI4;Q9UBT7-3;Q9UBT7-2;Q9UBT7	.;.;.;CTNL1_HUMAN	A	283	ENSP00000363723:G283A;ENSP00000320434:G283A;ENSP00000323351:G283A	ENSP00000320434:G283A	G	-	2	0	CTNNAL1	110785298	1.000000	0.71417	0.989000	0.46669	0.956000	0.61745	4.813000	0.62620	2.804000	0.96469	0.650000	0.86243	GGA		0.318	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053577.1	NM_003798		17	32	0	0	0	1	0	17	32				
EPS8	2059	broad.mit.edu	37	12	15794688	15794688	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:15794688C>T	ENST00000281172.5	-	16	2081	c.1645G>A	c.(1645-1647)Gag>Aag	p.E549K	EPS8_ENST00000543523.1_Missense_Mutation_p.E549K|EPS8_ENST00000542903.1_Missense_Mutation_p.E289K|EPS8_ENST00000540613.1_Missense_Mutation_p.E289K|EPS8_ENST00000543612.1_Missense_Mutation_p.E549K	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	549	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		ACCGAGAGCTCACTGTTGTTC	0.274																																						ENST00000281172.5																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(1645-1647)Gag>Aag		epidermal growth factor receptor pathway substrate 8							127.0	122.0	124.0					12																	15794688		2203	4300	6503	SO:0001583	missense	2059				cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity	g.chr12:15794688C>T	U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491			3420	protein-coding gene	gene with protein product		600206				8084614	Standard	NM_004447		Approved		uc001rdb.3	Q12929		ENST00000281172.5:c.1645G>A	12.37:g.15794688C>T	ENSP00000281172:p.Glu549Lys					EPS8_ENST00000543612.1_Missense_Mutation_p.E549K|EPS8_ENST00000540613.1_Missense_Mutation_p.E289K|EPS8_ENST00000543523.1_Missense_Mutation_p.E549K|EPS8_ENST00000542903.1_Missense_Mutation_p.E289K	p.E549K	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)	16	2081	-		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)	549			SH3.		A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Missense_Mutation	SNP	ENST00000281172.5	37	c.1645G>A	CCDS31753.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.897696	0.91962	.	.	ENSG00000151491	ENST00000543523;ENST00000281172;ENST00000543612;ENST00000540613;ENST00000542903;ENST00000543223	T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17	4.92	4.92	0.64577	Src homology-3 domain (4);	0.129696	0.56097	D	0.000021	D	0.86108	0.5854	H	0.96269	3.795	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	D	0.90630	0.4566	10	0.87932	D	0	-26.0894	18.3284	0.90261	0.0:1.0:0.0:0.0	.	549	Q12929	EPS8_HUMAN	K	549;549;549;289;289;549	ENSP00000441867:E549K;ENSP00000281172:E549K;ENSP00000442388:E549K;ENSP00000441888:E289K;ENSP00000437806:E289K	ENSP00000281172:E549K	E	-	1	0	EPS8	15685955	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.466000	0.73543	2.583000	0.87209	0.650000	0.86243	GAG		0.274	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401093.1			4	53	0	0	0	1	0	4	53				
MXRA5	25878	broad.mit.edu	37	X	3228714	3228714	+	Missense_Mutation	SNP	C	C	G	rs372219810		TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chrX:3228714C>G	ENST00000217939.6	-	7	7684	c.7530G>C	c.(7528-7530)aaG>aaC	p.K2510N		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2510	Ig-like C2-type 9.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CGGAGTCGCTCTTCCTCAAAC	0.572																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(7528-7530)aaG>aaC		matrix-remodelling associated 5							18.0	15.0	16.0					X																	3228714		2183	4229	6412	SO:0001583	missense	25878					extracellular region		g.chrX:3228714C>G	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.7530G>C	X.37:g.3228714C>G	ENSP00000217939:p.Lys2510Asn						p.K2510N	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			7	7684	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2510			Ig-like C2-type 9.		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.7530G>C	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	C	8.430	0.848498	0.17034	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.01629	4.72	3.86	1.92	0.25849	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.382752	0.18767	U	0.131703	T	0.04003	0.0112	L	0.58810	1.83	0.22266	N	0.999248	D	0.59767	0.986	P	0.57009	0.811	T	0.40478	-0.9561	10	0.22706	T	0.39	.	5.4807	0.16721	0.0:0.6521:0.1602:0.1877	.	2510	Q9NR99	MXRA5_HUMAN	N	2510	ENSP00000217939:K2510N	ENSP00000217939:K2510N	K	-	3	2	MXRA5	3238714	0.006000	0.16342	0.073000	0.20177	0.046000	0.14306	-0.005000	0.12855	0.453000	0.26858	0.597000	0.82753	AAG		0.572	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		18	5	0	0	0	1	0	18	5				
TLK2	11011	broad.mit.edu	37	17	60689781	60689781	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr17:60689781G>A	ENST00000326270.9	+	23	2442	c.2174G>A	c.(2173-2175)cGa>cAa	p.R725Q	TLK2_ENST00000582809.1_Missense_Mutation_p.R554Q|TLK2_ENST00000542523.1_Missense_Mutation_p.R671Q|TLK2_ENST00000343388.7_Missense_Mutation_p.R671Q|TLK2_ENST00000346027.5_Missense_Mutation_p.R703Q	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	725	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|negative regulation of autophagy (GO:0010507)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	intermediate filament (GO:0005882)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						TTGGCCTACCGAAAGGAGGAC	0.537																																						ENST00000582809.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						c.(1660-1662)cGa>cAa		tousled-like kinase 2							95.0	82.0	86.0					17																	60689781		2203	4300	6503	SO:0001583	missense	11011				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:60689781G>A	AB004884	CCDS11633.1, CCDS45753.1, CCDS62283.1	17q23	2008-07-18							11842	protein-coding gene	gene with protein product		608439				9427565, 10523312	Standard	NM_006852		Approved	PKU-ALPHA, MGC44450	uc002izz.4	Q86UE8		ENST00000326270.9:c.2174G>A	17.37:g.60689781G>A	ENSP00000316512:p.Arg725Gln					TLK2_ENST00000343388.7_Missense_Mutation_p.R671Q|TLK2_ENST00000542523.1_Missense_Mutation_p.R671Q|TLK2_ENST00000346027.5_Missense_Mutation_p.R703Q|TLK2_ENST00000326270.9_Missense_Mutation_p.R725Q	p.R554Q			Q86UE8	TLK2_HUMAN			23	2364	+			725			Protein kinase.		D3DU07|Q9UKI7|Q9Y4F7	Missense_Mutation	SNP	ENST00000326270.9	37	c.1661G>A		.	.	.	.	.	.	.	.	.	.	G	17.69	3.451611	0.63290	.	.	ENSG00000146872	ENST00000346027;ENST00000343388;ENST00000326270;ENST00000542523	T;T;T;T	0.20069	2.1;2.1;2.1;2.1	5.56	4.56	0.56223	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.057633	0.64402	D	0.000001	T	0.12008	0.0292	N	0.12527	0.23	0.80722	D	1	P;B;B;B	0.35959	0.53;0.305;0.191;0.228	B;B;B;B	0.28784	0.086;0.056;0.056;0.094	T	0.12243	-1.0555	10	0.87932	D	0	.	14.9516	0.71080	0.0:0.0:0.8571:0.1429	.	725;671;703;703	Q86UE8;Q86UE8-3;Q86UE8-2;D3DU05	TLK2_HUMAN;.;.;.	Q	703;671;725;671	ENSP00000275780:R703Q;ENSP00000340800:R671Q;ENSP00000316512:R725Q;ENSP00000442311:R671Q	ENSP00000316512:R725Q	R	+	2	0	TLK2	58043513	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.614000	0.88457	0.561000	0.74099	CGA		0.537	TLK2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000445140.1	NM_006852		28	108	0	0	0	1	0	28	108				
POLR2C	5432	broad.mit.edu	37	16	57504952	57504952	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:57504952C>T	ENST00000219252.5	+	9	1087	c.749C>T	c.(748-750)tCa>tTa	p.S250L		NM_032940.2	NP_116558.1	P19387	RPB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide C, 33kDa	250					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	10						TCAGCCCTCTCAGGATTGAAG	0.478																																						ENST00000219252.5																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	10						c.(748-750)tCa>tTa		polymerase (RNA) II (DNA directed) polypeptide C, 33kDa							123.0	114.0	117.0					16																	57504952		2198	4300	6498	SO:0001583	missense	5432				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity	g.chr16:57504952C>T		CCDS10782.1	16q13-q21	2013-01-21	2002-08-29		ENSG00000102978	ENSG00000102978		"""RNA polymerase subunits"""	9189	protein-coding gene	gene with protein product	"""RNA polymerase II subunit 3"""	180663	"""polymerase (RNA) II (DNA directed) polypeptide C (33kD)"""			8034326	Standard	NM_032940		Approved	RPB3	uc002elt.1	P19387	OTTHUMG00000133464	ENST00000219252.5:c.749C>T	16.37:g.57504952C>T	ENSP00000219252:p.Ser250Leu						p.S250L	NM_032940.2	NP_116558.1	P19387	RPB3_HUMAN			9	1087	+			250					O15161	Missense_Mutation	SNP	ENST00000219252.5	37	c.749C>T	CCDS10782.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.574651	0.65878	.	.	ENSG00000102978	ENST00000219252	D	0.82619	-1.63	5.59	5.59	0.84812	DNA-directed RNA polymerase, RpoA/D/Rpb3-type (1);DNA-directed RNA polymerase, dimerisation (1);DNA-directed RNA polymerase, RBP11-like (1);	0.155778	0.64402	D	0.000017	T	0.79969	0.4538	L	0.37630	1.12	0.58432	D	0.999999	B	0.28971	0.229	B	0.34038	0.174	T	0.77008	-0.2747	10	0.45353	T	0.12	.	18.5726	0.91142	0.0:1.0:0.0:0.0	.	250	P19387	RPB3_HUMAN	L	250	ENSP00000219252:S250L	ENSP00000219252:S250L	S	+	2	0	POLR2C	56062453	1.000000	0.71417	0.879000	0.34478	0.727000	0.41649	7.397000	0.79903	2.619000	0.88677	0.655000	0.94253	TCA		0.478	POLR2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257340.3	NM_032940		50	58	0	0	0	1	0	50	58				
AP3B1	8546	broad.mit.edu	37	5	77298846	77298846	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr5:77298846C>T	ENST00000255194.6	-	27	3340	c.3165G>A	c.(3163-3165)ttG>ttA	p.L1055L	AP3B1_ENST00000519295.1_Silent_p.L1006L	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	1055					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		TGACTAGCATCAATGACCCAC	0.448									Hermansky-Pudlak syndrome																													ENST00000255194.6																			0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39						c.(3163-3165)ttG>ttA		adaptor-related protein complex 3, beta 1 subunit							123.0	119.0	120.0					5																	77298846		2203	4300	6503	SO:0001819	synonymous_variant	8546	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity	g.chr5:77298846C>T	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.3165G>A	5.37:g.77298846C>T						AP3B1_ENST00000519295.1_Silent_p.L1006L	p.L1055L	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)	27	3340	-		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)	1055					E5RJ68|O00580|Q7Z393|Q9HD66	Silent	SNP	ENST00000255194.6	37	c.3165G>A	CCDS4041.1																																																																																				0.448	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2			42	23	0	0	0	1	0	42	23				
TRAP1	10131	broad.mit.edu	37	16	3727505	3727505	+	Nonsense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:3727505G>C	ENST00000246957.5	-	6	786	c.698C>G	c.(697-699)tCa>tGa	p.S233*	TRAP1_ENST00000573872.1_5'UTR|TRAP1_ENST00000575671.1_Nonsense_Mutation_p.S24*|TRAP1_ENST00000538171.1_Nonsense_Mutation_p.S180*	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	233					chaperone-mediated protein folding (GO:0061077)|negative regulation of cellular respiration (GO:1901856)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to stress (GO:0006950)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|tumor necrosis factor receptor binding (GO:0005164)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				TCACCCATCTGAAAGCCACTG	0.552																																						ENST00000575671.1																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(70-72)tCa>tGa		TNF receptor-associated protein 1							69.0	65.0	66.0					16																	3727505		2197	4300	6497	SO:0001587	stop_gained	10131				cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding	g.chr16:3727505G>C	AF154108	CCDS10508.1, CCDS61824.1	16p13.3	2011-09-02			ENSG00000126602	ENSG00000126602		"""Heat shock proteins / HSPC"""	16264	protein-coding gene	gene with protein product		606219				10652318, 7876093	Standard	NM_016292		Approved	HSP75, HSP90L	uc002cvt.4	Q12931	OTTHUMG00000129427	ENST00000246957.5:c.698C>G	16.37:g.3727505G>C	ENSP00000246957:p.Ser233*					TRAP1_ENST00000538171.1_Nonsense_Mutation_p.S180*|TRAP1_ENST00000246957.5_Nonsense_Mutation_p.S233*|TRAP1_ENST00000573872.1_5'UTR	p.S24*			Q12931	TRAP1_HUMAN			1	800	-		Ovarian(90;0.0261)	233					B4DR68|D3DUC8|F5H897|O43642|O75235|Q9UHL5	Nonsense_Mutation	SNP	ENST00000246957.5	37	c.71C>G	CCDS10508.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.821020	0.50633	.	.	ENSG00000126602	ENST00000246957;ENST00000538171	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.0632	19.1034	0.93283	0.0:0.0:1.0:0.0	.	.	.	.	X	233;180	.	ENSP00000246957:S233X	S	-	2	0	TRAP1	3667506	1.000000	0.71417	0.793000	0.32043	0.097000	0.18754	9.342000	0.97044	2.750000	0.94351	0.655000	0.94253	TCA		0.552	TRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251586.2	NM_016292		4	126	0	0	0	1	0	4	126				
PCDHB15	56121	broad.mit.edu	37	5	140626769	140626769	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr5:140626769G>A	ENST00000231173.3	+	1	1623	c.1623G>A	c.(1621-1623)ctG>ctA	p.L541L		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	541	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCCGGCGCTGAGCAGCGAGG	0.692																																						ENST00000231173.3																			0				NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61						c.(1621-1623)ctG>ctA									42.0	52.0	48.0					5																	140626769		2203	4299	6502	SO:0001819	synonymous_variant	56121				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140626769G>A	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.1623G>A	5.37:g.140626769G>A							p.L541L	NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1623	+			541			Cadherin 5.		Q8IUX5	Silent	SNP	ENST00000231173.3	37	c.1623G>A	CCDS4257.1																																																																																				0.692	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		64	34	0	0	0	1	0	64	34				
GUCY1B3	2983	broad.mit.edu	37	4	156710980	156710980	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:156710980G>C	ENST00000264424.8	+	5	494	c.412G>C	c.(412-414)Gag>Cag	p.E138Q	GUCY1B3_ENST00000505764.1_Missense_Mutation_p.E118Q|GUCY1B3_ENST00000507146.1_Missense_Mutation_p.E70Q|GUCY1B3_ENST00000505154.1_Missense_Mutation_p.E70Q|GUCY1B3_ENST00000502959.1_Missense_Mutation_p.E160Q|GUCY1B3_ENST00000503520.1_Missense_Mutation_p.E138Q|GUCY1B3_ENST00000513437.1_Missense_Mutation_p.E70Q	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	138					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)	cytoplasm (GO:0005737)|guanylate cyclase complex, soluble (GO:0008074)|intracellular membrane-bounded organelle (GO:0043231)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		CTACTACTCAGAGAGAGAAGG	0.453																																						ENST00000264424.8																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(412-414)Gag>Cag		guanylate cyclase 1, soluble, beta 3							167.0	158.0	161.0					4																	156710980		1935	4147	6082	SO:0001583	missense	2983				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity	g.chr4:156710980G>C	AF020340	CCDS47154.1, CCDS75203.1	4q31.3-q33	2008-03-18			ENSG00000061918	ENSG00000061918	4.6.1.2		4687	protein-coding gene	gene with protein product		139397		GUC1B3		1352257	Standard	XM_005262959		Approved	GC-SB3, GC-S-beta-1	uc003ipc.3	Q02153	OTTHUMG00000161698	ENST00000264424.8:c.412G>C	4.37:g.156710980G>C	ENSP00000264424:p.Glu138Gln					GUCY1B3_ENST00000513437.1_Missense_Mutation_p.E70Q|GUCY1B3_ENST00000503520.1_Missense_Mutation_p.E138Q|GUCY1B3_ENST00000505154.1_Missense_Mutation_p.E70Q|GUCY1B3_ENST00000502959.1_Missense_Mutation_p.E160Q|GUCY1B3_ENST00000505764.1_Missense_Mutation_p.E118Q|GUCY1B3_ENST00000507146.1_Missense_Mutation_p.E70Q	p.E138Q	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN		COAD - Colon adenocarcinoma(41;0.148)	5	494	+	all_hematologic(180;0.24)	Renal(120;0.0854)	138					B7Z426|Q86WY5	Missense_Mutation	SNP	ENST00000264424.8	37	c.412G>C	CCDS47154.1	.	.	.	.	.	.	.	.	.	.	G	31	5.098618	0.94197	.	.	ENSG00000061918	ENST00000505154;ENST00000502959;ENST00000505764;ENST00000507146;ENST00000264424;ENST00000503520;ENST00000513437	T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92	5.97	5.97	0.96955	Heme-NO binding (1);NO signalling/Golgi transport  ligand-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.61702	0.2368	M	0.61703	1.905	0.58432	D	0.999999	P;D;P;D;P	0.65815	0.938;0.986;0.629;0.995;0.786	P;D;P;D;P	0.66497	0.785;0.944;0.542;0.911;0.634	T	0.50338	-0.8840	10	0.22109	T	0.4	.	20.4387	0.99107	0.0:0.0:1.0:0.0	.	118;160;70;138;138	B7Z426;E9PCN2;D6RC99;Q02153-2;Q02153	.;.;.;.;GCYB1_HUMAN	Q	70;160;118;70;138;138;70	ENSP00000427226:E70Q;ENSP00000426786:E160Q;ENSP00000426319:E118Q;ENSP00000422313:E70Q;ENSP00000264424:E138Q;ENSP00000420842:E138Q;ENSP00000425065:E70Q	ENSP00000264424:E138Q	E	+	1	0	GUCY1B3	156930430	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	9.793000	0.99091	2.836000	0.97738	0.655000	0.94253	GAG		0.453	GUCY1B3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365770.2			40	89	0	0	0	1	0	40	89				
SERPINA9	327657	broad.mit.edu	37	14	94935850	94935850	+	Missense_Mutation	SNP	T	T	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr14:94935850T>G	ENST00000380365.3	-	2	406	c.328A>C	c.(328-330)Atc>Ctc	p.I110L	SERPINA9_ENST00000337425.5_Missense_Mutation_p.I128L|SERPINA9_ENST00000539349.1_5'Flank|SERPINA9_ENST00000448305.2_Missense_Mutation_p.I30L|SERPINA9_ENST00000298845.7_Intron|SERPINA9_ENST00000424550.2_Intron|SERPINA9_ENST00000546329.1_Missense_Mutation_p.I92L			Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	110					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		CCCTGGTGGATGGCAGACTCT	0.577																																						ENST00000337425.5																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21						c.(382-384)Atc>Ctc		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9							111.0	116.0	114.0					14																	94935850		2129	4246	6375	SO:0001583	missense	327657				regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	g.chr14:94935850T>G	AY185497	CCDS41982.1, CCDS41983.1, CCDS61542.1	14q32.1	2014-02-18	2005-08-18		ENSG00000170054	ENSG00000170054		"""Serine (or cysteine) peptidase inhibitors"""	15995	protein-coding gene	gene with protein product		615677	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9"""			24172014	Standard	NM_175739		Approved	CENTERIN, SERPINA11b, GCET1	uc001ydf.3	Q86WD7	OTTHUMG00000167710	ENST00000380365.3:c.328A>C	14.37:g.94935850T>G	ENSP00000369723:p.Ile110Leu					SERPINA9_ENST00000424550.2_Intron|SERPINA9_ENST00000298845.7_Intron|SERPINA9_ENST00000546329.1_Missense_Mutation_p.I92L|SERPINA9_ENST00000448305.2_Missense_Mutation_p.I30L|SERPINA9_ENST00000380365.3_Missense_Mutation_p.I110L	p.I128L	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)	2	456	-		all_cancers(154;0.0691)|all_epithelial(191;0.233)	110					B4DVH4|B9ZVX3|Q2T9J2|Q6UWP9|Q86WD4|Q86WD5|Q86WD6|Q86YP6|Q86YP7	Missense_Mutation	SNP	ENST00000380365.3	37	c.382A>C		.	.	.	.	.	.	.	.	.	.	T	1.940	-0.443900	0.04604	.	.	ENSG00000170054	ENST00000448305;ENST00000337425;ENST00000380365;ENST00000546329	D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77	4.12	1.69	0.24217	Serpin domain (3);	0.312951	0.25055	N	0.033498	D	0.85526	0.5717	L	0.50993	1.605	0.09310	N	0.999999	B;B;B;B	0.25206	0.078;0.12;0.011;0.009	B;P;B;B	0.50136	0.4;0.632;0.292;0.216	T	0.79344	-0.1842	10	0.52906	T	0.07	.	8.4681	0.32969	0.0:0.2455:0.0:0.7545	.	92;110;30;128	Q86WD7-4;Q86WD7;Q86WD7-6;Q86WD7-7	.;SPA9_HUMAN;.;.	L	30;128;110;92	ENSP00000414092:I30L;ENSP00000337133:I128L;ENSP00000369723:I110L;ENSP00000445476:I92L	ENSP00000337133:I128L	I	-	1	0	SERPINA9	94005603	0.965000	0.33210	0.410000	0.26471	0.176000	0.22953	1.735000	0.38176	0.122000	0.18314	0.379000	0.24179	ATC		0.577	SERPINA9-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395803.2	NM_175739		71	88	0	0	0	1	0	71	88				
CACNG8	59283	broad.mit.edu	37	19	54485522	54485522	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:54485522G>A	ENST00000270458.2	+	4	800	c.697G>A	c.(697-699)Gag>Aag	p.E233K	MIR935_ENST00000401179.1_RNA	NM_031895.5	NP_114101	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	233					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		GCGCAGCCGCGAGGCGCACTG	0.687																																						ENST00000270458.2																			0				kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13						c.(697-699)Gag>Aag		calcium channel, voltage-dependent, gamma subunit 8							28.0	22.0	24.0					19																	54485522		2195	4295	6490	SO:0001583	missense	59283				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54485522G>A	AF288388	CCDS33104.1	19q13.4	2008-05-02			ENSG00000142408	ENSG00000142408		"""Calcium channel subunits"""	13628	protein-coding gene	gene with protein product		606900				11170751	Standard	NM_031895		Approved		uc002qcs.2	Q8WXS5	OTTHUMG00000064908	ENST00000270458.2:c.697G>A	19.37:g.54485522G>A	ENSP00000270458:p.Glu233Lys						p.E233K	NM_031895.5	NP_114101.4	Q8WXS5	CCG8_HUMAN		GBM - Glioblastoma multiforme(134;0.162)	4	800	+	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)		233					Q9BXT0|Q9BY23	Missense_Mutation	SNP	ENST00000270458.2	37	c.697G>A	CCDS33104.1	.	.	.	.	.	.	.	.	.	.	.	20.3	3.968872	0.74131	.	.	ENSG00000142408	ENST00000270458	T	0.49432	0.78	1.82	1.82	0.25136	.	0.077548	0.49305	U	0.000149	T	0.49881	0.1583	L	0.35644	1.08	0.34343	D	0.689016	D	0.89917	1.0	P	0.60789	0.879	T	0.61773	-0.6994	9	0.56958	D	0.05	.	9.2411	0.37498	0.0:0.0:1.0:0.0	.	233	Q8WXS5	CCG8_HUMAN	K	233	ENSP00000270458:E233K	ENSP00000270458:E233K	E	+	1	0	CACNG8	59177334	0.980000	0.34600	1.000000	0.80357	0.985000	0.73830	1.468000	0.35332	0.998000	0.38996	0.281000	0.19383	GAG		0.687	CACNG8-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139361.3			7	20	0	0	0	1	0	7	20				
PVRL3	25945	broad.mit.edu	37	3	110830990	110830990	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:110830990G>C	ENST00000485303.1	+	2	549	c.274G>C	c.(274-276)Gag>Cag	p.E92Q	PVRL3_ENST00000319792.3_Missense_Mutation_p.E92Q|PVRL3_ENST00000488016.1_3'UTR|PVRL3_ENST00000493615.1_Missense_Mutation_p.E69Q	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	92	Ig-like V-type.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|fertilization (GO:0009566)|homophilic cell adhesion (GO:0007156)|lens morphogenesis in camera-type eye (GO:0002089)|retina morphogenesis in camera-type eye (GO:0060042)|single organismal cell-cell adhesion (GO:0016337)	apical junction complex (GO:0043296)|cell-cell adherens junction (GO:0005913)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	cell adhesion molecule binding (GO:0050839)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						GATTTCATGGGAGAAGATACA	0.373																																						ENST00000485303.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						c.(274-276)Gag>Cag		poliovirus receptor-related 3							80.0	76.0	77.0					3																	110830990		2203	4300	6503	SO:0001583	missense	25945				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity	g.chr3:110830990G>C	AF282874	CCDS2957.1, CCDS58842.1, CCDS58843.1	3q13	2013-01-29			ENSG00000177707	ENSG00000177707		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17664	protein-coding gene	gene with protein product		607147				11024295	Standard	NM_015480		Approved	nectin-3, PPR3, PVRR3, DKFZP566B0846, CDw113, CD113	uc003dxt.2	Q9NQS3	OTTHUMG00000159239	ENST00000485303.1:c.274G>C	3.37:g.110830990G>C	ENSP00000418070:p.Glu92Gln					PVRL3_ENST00000493615.1_Missense_Mutation_p.E69Q|PVRL3_ENST00000488016.1_3'UTR|PVRL3_ENST00000319792.3_Missense_Mutation_p.E92Q	p.E92Q	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN			2	549	+			92			Ig-like V-type.		E9PFR0|Q6NVZ3|Q8NC05|Q8WVU4|Q9BVA9|Q9Y412	Missense_Mutation	SNP	ENST00000485303.1	37	c.274G>C	CCDS2957.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.38|15.38	2.817090|2.817090	0.50633|0.50633	.|.	.|.	ENSG00000177707|ENSG00000177707	ENST00000461477;ENST00000485303;ENST00000319792;ENST00000493615;ENST00000481766|ENST00000486596	T;T;T;T;T|.	0.65916|.	-0.18;-0.18;-0.18;-0.18;-0.18|.	5.84|5.84	5.84|5.84	0.93424|0.93424	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.51770|0.51770	0.1694|0.1694	N|N	0.17082|0.17082	0.46|0.46	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.56968|.	0.961;0.978|.	P;D|.	0.68765|.	0.819;0.96|.	T|T	0.44997|0.44997	-0.9291|-0.9291	10|5	0.09084|.	T|.	0.74|.	.|.	17.649|17.649	0.88157|0.88157	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	69;92|.	E9PFR0;Q9NQS3|.	.;PVRL3_HUMAN|.	Q|A	45;92;92;69;77|91	ENSP00000418327:E45Q;ENSP00000418070:E92Q;ENSP00000321514:E92Q;ENSP00000420579:E69Q;ENSP00000420479:E77Q|.	ENSP00000321514:E92Q|.	E|G	+|+	1|2	0|0	PVRL3|PVRL3	112313680|112313680	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.517000|8.517000	0.90555|0.90555	2.760000|2.760000	0.94817|0.94817	0.655000|0.655000	0.94253|0.94253	GAG|GGA		0.373	PVRL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354045.1	NM_015480		33	86	0	0	0	1	0	33	86				
VCPIP1	80124	broad.mit.edu	37	8	67578020	67578020	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr8:67578020C>T	ENST00000310421.4	-	1	1432	c.1174G>A	c.(1174-1176)Gaa>Aaa	p.E392K	C8orf44_ENST00000519561.1_5'Flank|C8orf44-SGK3_ENST00000519289.1_5'Flank|C8orf44_ENST00000521889.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	392					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			CCATCCTCTTCAAGTTTTATG	0.413																																					NSCLC(179;265 2915 6144 43644)	ENST00000310421.4																			0				breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1174-1176)Gaa>Aaa		valosin containing protein (p97)/p47 complex interacting protein 1							122.0	120.0	121.0					8																	67578020		2203	4300	6503	SO:0001583	missense	80124				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	g.chr8:67578020C>T	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.1174G>A	8.37:g.67578020C>T	ENSP00000309031:p.Glu392Lys						p.E392K	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		1	1432	-		Lung NSC(129;0.142)|all_lung(136;0.227)	392					Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	ENST00000310421.4	37	c.1174G>A	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.071309	0.55646	.	.	ENSG00000175073	ENST00000310421	T	0.35421	1.31	5.61	5.61	0.85477	.	0.049442	0.85682	D	0.000000	T	0.35885	0.0947	L	0.34521	1.04	0.80722	D	1	P	0.46987	0.888	P	0.44561	0.453	T	0.03524	-1.1028	10	0.34782	T	0.22	-13.1032	19.6397	0.95753	0.0:1.0:0.0:0.0	.	392	Q96JH7	VCIP1_HUMAN	K	392	ENSP00000309031:E392K	ENSP00000309031:E392K	E	-	1	0	VCPIP1	67740574	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.632000	0.89209	0.655000	0.94253	GAA		0.413	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			5	205	0	0	0	1	0	5	205				
PLEC	5339	broad.mit.edu	37	8	144992778	144992778	+	Silent	SNP	C	C	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr8:144992778C>A	ENST00000322810.4	-	32	11791	c.11622G>T	c.(11620-11622)gtG>gtT	p.V3874V	PLEC_ENST00000345136.3_Silent_p.V3737V|PLEC_ENST00000354589.3_Silent_p.V3737V|PLEC_ENST00000357649.2_Silent_p.V3741V|PLEC_ENST00000356346.3_Silent_p.V3723V|PLEC_ENST00000398774.2_Silent_p.V3705V|PLEC_ENST00000527096.1_Silent_p.V3760V|PLEC_ENST00000354958.2_Silent_p.V3715V|PLEC_ENST00000436759.2_Silent_p.V3764V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3874	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCTCCCCCTTCACCGGGTCCA	0.687																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(11620-11622)gtG>gtT		plectin							18.0	22.0	21.0					8																	144992778		1899	3977	5876	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144992778C>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.11622G>T	8.37:g.144992778C>A						PLEC_ENST00000436759.2_Silent_p.V3764V|PLEC_ENST00000354589.3_Silent_p.V3737V|PLEC_ENST00000356346.3_Silent_p.V3723V|PLEC_ENST00000398774.2_Silent_p.V3705V|PLEC_ENST00000345136.3_Silent_p.V3737V|PLEC_ENST00000357649.2_Silent_p.V3741V|PLEC_ENST00000354958.2_Silent_p.V3715V|PLEC_ENST00000527096.1_Silent_p.V3760V	p.V3874V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	11791	-			3874			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.11622G>T	CCDS43772.1																																																																																				0.687	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		27	48	1	0	8.24728e-16	1	8.57718e-16	27	48				
BPIFB4	149954	broad.mit.edu	37	20	31692652	31692652	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr20:31692652G>A	ENST00000375483.3	+	14	1717	c.1717G>A	c.(1717-1719)Gac>Aac	p.D573N	BPIFB4_ENST00000494121.1_3'UTR	NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	573						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										GAAGATTTTTGACCTGGCATT	0.592																																						ENST00000375483.3																			0											c.(1717-1719)Gac>Aac		BPI fold containing family B, member 4							143.0	119.0	127.0					20																	31692652		2203	4300	6503	SO:0001583	missense	149954					cytoplasm|extracellular region	lipid binding	g.chr20:31692652G>A	AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"""BPI fold containing"""	16179	protein-coding gene	gene with protein product		615718	"""chromosome 20 open reading frame 186"""	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.1717G>A	20.37:g.31692652G>A	ENSP00000364632:p.Asp573Asn					BPIFB4_ENST00000494121.1_3'UTR	p.D573N	NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN			14	1717	+			573					Q5TDX6	Missense_Mutation	SNP	ENST00000375483.3	37	c.1717G>A	CCDS13213.2	.	.	.	.	.	.	.	.	.	.	G	9.258	1.042486	0.19748	.	.	ENSG00000186191	ENST00000375483	T	0.08458	3.09	4.51	2.55	0.30701	.	0.276491	0.31061	N	0.008325	T	0.05960	0.0155	L	0.33485	1.01	0.27996	N	0.935454	B	0.11235	0.004	B	0.12156	0.007	T	0.36432	-0.9748	10	0.19147	T	0.46	-28.0359	7.5257	0.27653	0.1999:0.0:0.8001:0.0	.	573	P59827	BPIB4_HUMAN	N	573	ENSP00000364632:D573N	ENSP00000364632:D573N	D	+	1	0	BPIFB4	31156313	0.927000	0.31430	0.757000	0.31301	0.725000	0.41563	1.797000	0.38804	0.638000	0.30545	-0.254000	0.11334	GAC		0.592	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	NM_182519		21	49	0	0	0	1	0	21	49				
TTN	7273	broad.mit.edu	37	2	179429333	179429333	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:179429333G>A	ENST00000591111.1	-	276	76827	c.76603C>T	c.(76603-76605)Cgc>Tgc	p.R25535C	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R18111C|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R18236C|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R27176C|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R18303C|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R24608C			Q8WZ42	TITIN_HUMAN	titin	25535	Fibronectin type-III 86. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTTCAGGGCGACCAGGTGGG	0.408																																						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.(81526-81528)Cgc>Tgc		titin							63.0	61.0	61.0					2																	179429333		1936	4144	6080	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179429333G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.76603C>T	2.37:g.179429333G>A	ENSP00000465570:p.Arg25535Cys					TTN_ENST00000342175.6_Missense_Mutation_p.R18303C|TTN_ENST00000359218.5_Missense_Mutation_p.R18236C|TTN_ENST00000342992.6_Missense_Mutation_p.R24608C|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R25535C|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R18111C|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA	p.R27176C	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)		326	81750	-			25535			Ig-like 129.		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.81526C>T		.	.	.	.	.	.	.	.	.	.	G	12.64	1.997845	0.35226	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	5.93	5.93	0.95920	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69771	0.3148	M	0.64260	1.97	0.53005	D	0.999967	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	P;P;P;P	0.60609	0.877;0.877;0.877;0.877	T	0.70586	-0.4831	9	0.87932	D	0	.	20.3226	0.98684	0.0:0.0:1.0:0.0	.	18111;18236;18303;25535	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	24608;18111;18303;18236;18109	ENSP00000343764:R24608C;ENSP00000434586:R18111C;ENSP00000340554:R18303C;ENSP00000352154:R18236C	ENSP00000340554:R18303C	R	-	1	0	TTN	179137579	0.995000	0.38212	1.000000	0.80357	0.999000	0.98932	2.418000	0.44662	2.805000	0.96524	0.650000	0.86243	CGC		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		19	20	0	0	0	1	0	19	20				
KLF3	51274	broad.mit.edu	37	4	38698797	38698797	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:38698797C>G	ENST00000261438.5	+	6	1256	c.951C>G	c.(949-951)atC>atG	p.I317M		NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	317					cellular response to peptide (GO:1901653)|multicellular organismal development (GO:0007275)|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)			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						ATACTGGAATCAAACCTTTCC	0.488																																						ENST00000261438.5																			0				endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						c.(949-951)atC>atG		Kruppel-like factor 3 (basic)							197.0	175.0	182.0					4																	38698797		2203	4300	6503	SO:0001583	missense	51274				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:38698797C>G	AF285837	CCDS3444.1	4p16.1-p15.2	2013-01-08			ENSG00000109787	ENSG00000109787		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	16516	protein-coding gene	gene with protein product	"""basic Kruppel-like factor"""	609392				18391014	Standard	NM_016531		Approved	BKLF	uc003gth.4	P57682	OTTHUMG00000097821	ENST00000261438.5:c.951C>G	4.37:g.38698797C>G	ENSP00000261438:p.Ile317Met						p.I317M	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN			6	1256	+			317					Q6PIR1|Q86TN0|Q9P2X6	Missense_Mutation	SNP	ENST00000261438.5	37	c.951C>G	CCDS3444.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.338387	0.60963	.	.	ENSG00000109787	ENST00000261438	T	0.17528	2.27	5.83	3.8	0.43715	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.17874	0.0429	N	0.20986	0.625	0.80722	D	1	P	0.48998	0.918	P	0.49853	0.624	T	0.02625	-1.1132	10	0.46703	T	0.11	.	13.6015	0.62022	0.0:0.854:0.0:0.146	.	317	P57682	KLF3_HUMAN	M	317	ENSP00000261438:I317M	ENSP00000261438:I317M	I	+	3	3	KLF3	38375192	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.036000	0.41165	1.481000	0.48307	0.650000	0.86243	ATC		0.488	KLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215093.2			74	121	0	0	0	1	0	74	121				
VEPH1	79674	broad.mit.edu	37	3	157131748	157131748	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:157131748C>T	ENST00000362010.2	-	6	1135	c.828G>A	c.(826-828)ctG>ctA	p.L276L	VEPH1_ENST00000392832.2_Silent_p.L276L|VEPH1_ENST00000392833.2_Silent_p.L276L|VEPH1_ENST00000469007.1_5'UTR|VEPH1_ENST00000543418.1_Silent_p.L276L	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	276						plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			CAATCTCTTTCAGCATTGGAA	0.433																																						ENST00000362010.2																			0				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(826-828)ctG>ctA		ventricular zone expressed PH domain-containing 1							156.0	159.0	158.0					3																	157131748		2203	4300	6503	SO:0001819	synonymous_variant	79674					plasma membrane		g.chr3:157131748C>T	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.828G>A	3.37:g.157131748C>T						VEPH1_ENST00000392832.2_Silent_p.L276L|VEPH1_ENST00000392833.2_Silent_p.L276L|VEPH1_ENST00000543418.1_Silent_p.L276L|VEPH1_ENST00000469007.1_5'UTR	p.L276L	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		6	1135	-			276					D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Silent	SNP	ENST00000362010.2	37	c.828G>A	CCDS3179.1																																																																																				0.433	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621		123	72	0	0	0	1	0	123	72				
NCOR2	9612	broad.mit.edu	37	12	124882689	124882689	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:124882689C>G	ENST00000405201.1	-	16	1852	c.1852G>C	c.(1852-1854)Gaa>Caa	p.E618Q	NCOR2_ENST00000397355.1_Missense_Mutation_p.E618Q|NCOR2_ENST00000404621.1_Missense_Mutation_p.E617Q|NCOR2_ENST00000429285.2_Missense_Mutation_p.E617Q|NCOR2_ENST00000404121.2_Missense_Mutation_p.E188Q|NCOR2_ENST00000356219.3_Missense_Mutation_p.E618Q			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	618	SANT 2. {ECO:0000255|PROSITE- ProRule:PRU00624}.				cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TCCATTTCTTCTTCTGTCCAG	0.557																																						ENST00000356219.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1852-1854)Gaa>Caa		nuclear receptor corepressor 2							175.0	202.0	193.0					12																	124882689		1995	4166	6161	SO:0001583	missense	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124882689C>G	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.1852G>C	12.37:g.124882689C>G	ENSP00000384018:p.Glu618Gln					NCOR2_ENST00000404621.1_Missense_Mutation_p.E617Q|NCOR2_ENST00000405201.1_Missense_Mutation_p.E618Q|NCOR2_ENST00000397355.1_Missense_Mutation_p.E618Q|NCOR2_ENST00000404121.2_Missense_Mutation_p.E188Q|NCOR2_ENST00000429285.2_Missense_Mutation_p.E617Q	p.E618Q	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	17	2007	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		618			SANT 2.		O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	c.1852G>C	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	C	13.63	2.294782	0.40594	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285;ENST00000458234	T;T;T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11;0.11;0.11	4.91	4.91	0.64330	.	0.275088	0.33327	N	0.005025	T	0.72851	0.3512	L	0.56199	1.76	0.46927	D	0.999254	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.87578	0.998;0.998;0.996	T	0.76181	-0.3053	10	0.87932	D	0	-18.5246	17.7087	0.88316	0.0:1.0:0.0:0.0	.	617;618;618	C9J0Q5;C9J239;C9JFD3	.;.;.	Q	618;617;618;618;618;188;617;618	ENSP00000384018:E618Q;ENSP00000384202:E617Q;ENSP00000348551:E618Q;ENSP00000380513:E618Q;ENSP00000385618:E188Q;ENSP00000400281:E617Q;ENSP00000402808:E618Q	ENSP00000348551:E618Q	E	-	1	0	NCOR2	123448642	1.000000	0.71417	0.675000	0.29917	0.722000	0.41435	6.657000	0.74402	2.282000	0.76494	0.591000	0.81541	GAA		0.557	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		33	84	0	0	0	1	0	33	84				
HPS5	11234	broad.mit.edu	37	11	18301483	18301483	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:18301483C>G	ENST00000349215.3	-	23	3613	c.3336G>C	c.(3334-3336)ttG>ttC	p.L1112F	HPS5_ENST00000438420.2_Missense_Mutation_p.L998F|HPS5_ENST00000396253.3_Missense_Mutation_p.L998F|HPS5_ENST00000537258.1_Nonstop_Mutation_p.*264S|HPS5_ENST00000352460.3_5'Flank	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	1112					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TGCTTTGTATCAAGGCCCTGA	0.383									Hermansky-Pudlak syndrome																													ENST00000537258.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(790-792)tGa>tCa		Hermansky-Pudlak syndrome 5							81.0	78.0	79.0					11																	18301483		2199	4293	6492	SO:0001583	missense	11234	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol		g.chr11:18301483C>G	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.3336G>C	11.37:g.18301483C>G	ENSP00000265967:p.Leu1112Phe					HPS5_ENST00000396253.3_Missense_Mutation_p.L998F|HPS5_ENST00000438420.2_Missense_Mutation_p.L998F|HPS5_ENST00000349215.3_Missense_Mutation_p.L1112F	p.*264S			Q9UPZ3	HPS5_HUMAN			6	956	-			0					A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Nonstop_Mutation	SNP	ENST00000349215.3	37	c.791G>C	CCDS7836.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.89|15.89	2.967017|2.967017	0.53507|0.53507	.|.	.|.	ENSG00000110756|ENSG00000110756	ENST00000396253;ENST00000438420;ENST00000349215|ENST00000537258	T;T;T|.	0.63913|.	-0.07;-0.07;-0.07|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.065710|.	0.64402|.	D|.	0.000006|.	T|.	0.69088|.	0.3072|.	L|L	0.55481|0.55481	1.735|1.735	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.74023|.	0.982|.	T|.	0.66416|.	-0.5929|.	10|.	0.87932|.	D|.	0|.	.|.	15.0033|15.0033	0.71492|0.71492	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1112|.	Q9UPZ3|.	HPS5_HUMAN|.	F|S	998;998;1112|264	ENSP00000379552:L998F;ENSP00000399590:L998F;ENSP00000265967:L1112F|.	ENSP00000265967:L1112F|.	L|X	-|-	3|2	2|2	HPS5|HPS5	18258059|18258059	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.922000|0.922000	0.55478|0.55478	2.374000|2.374000	0.44274|0.44274	2.600000|2.600000	0.87896|0.87896	0.561000|0.561000	0.74099|0.74099	TTG|TGA		0.383	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1	NM_181507		5	54	0	0	0	1	0	5	54				
CLK2	1196	broad.mit.edu	37	1	155239404	155239404	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:155239404C>T	ENST00000368361.4	-	3	589	c.274G>A	c.(274-276)Gac>Aac	p.D92N	CLK2_ENST00000497188.1_5'Flank|CLK2_ENST00000355560.4_Missense_Mutation_p.D91N|CLK2_ENST00000361168.5_Missense_Mutation_p.D92N|CLK2_ENST00000536801.1_Missense_Mutation_p.D92N			P49760	CLK2_HUMAN	CDC-like kinase 2	92					negative regulation of gluconeogenesis (GO:0045721)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)|response to ionizing radiation (GO:0010212)|response to retinoic acid (GO:0032526)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TAGTCTGTGTCATAGTAGGCA	0.572								Other conserved DNA damage response genes																														ENST00000368361.4																			0				endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22						c.(274-276)Gac>Aac	Other conserved DNA damage response genes	CDC-like kinase 2							163.0	146.0	152.0					1																	155239404		2203	4300	6503	SO:0001583	missense	1196					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:155239404C>T	L29218	CCDS1107.1, CCDS72939.1	1q21	2008-05-02			ENSG00000176444	ENSG00000176444		"""CDC-like kinases"""	2069	protein-coding gene	gene with protein product		602989				7990150, 9856501	Standard	XM_005244876		Approved	clk2	uc001fjw.3	P49760	OTTHUMG00000035873	ENST00000368361.4:c.274G>A	1.37:g.155239404C>T	ENSP00000357345:p.Asp92Asn					CLK2_ENST00000361168.5_Missense_Mutation_p.D92N|CLK2_ENST00000536801.1_Missense_Mutation_p.D92N|CLK2_ENST00000355560.4_Missense_Mutation_p.D91N	p.D92N			P49760	CLK2_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		3	589	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		92					B1AVS9|B5MBX6|Q96CQ0	Missense_Mutation	SNP	ENST00000368361.4	37	c.274G>A		.	.	.	.	.	.	.	.	.	.	.	13.20	2.165339	0.38217	.	.	ENSG00000176444	ENST00000361168;ENST00000368361;ENST00000355560;ENST00000536801	T;T;T;T	0.53423	0.62;0.63;0.64;0.63	4.91	4.91	0.64330	.	0.335724	0.35124	N	0.003425	T	0.19327	0.0464	N	0.19112	0.55	0.39713	D	0.97136	B;B	0.18310	0.016;0.027	B;B	0.19391	0.011;0.025	T	0.05007	-1.0912	10	0.16896	T	0.51	.	16.8876	0.86079	0.0:1.0:0.0:0.0	.	92;92	P49760;P49760-3	CLK2_HUMAN;.	N	92;92;91;92	ENSP00000354856:D92N;ENSP00000357345:D92N;ENSP00000347759:D91N;ENSP00000441023:D92N	ENSP00000347759:D91N	D	-	1	0	CLK2	153506028	1.000000	0.71417	0.576000	0.28549	0.946000	0.59487	4.548000	0.60718	2.566000	0.86566	0.650000	0.86243	GAC		0.572	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000087391.1	NM_003993		29	219	0	0	0	1	0	29	219				
ANKRD30A	91074	broad.mit.edu	37	10	37506719	37506719	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr10:37506719G>A	ENST00000602533.1	+	33	3111	c.3012G>A	c.(3010-3012)agG>agA	p.R1004R	ANKRD30A_ENST00000374660.1_Silent_p.R1123R|ANKRD30A_ENST00000361713.1_Silent_p.R1004R			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1060					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AGCAGCATAGGAAAGAGTTAG	0.333																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(3367-3369)agG>agA		ankyrin repeat domain 30A							70.0	70.0	70.0					10																	37506719		1816	4061	5877	SO:0001819	synonymous_variant	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37506719G>A	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.3012G>A	10.37:g.37506719G>A						ANKRD30A_ENST00000361713.1_Silent_p.R1004R|ANKRD30A_ENST00000602533.1_Silent_p.R1004R	p.R1123R			Q9BXX3	AN30A_HUMAN			39	3468	+			1100					Q5W025	Silent	SNP	ENST00000602533.1	37	c.3369G>A																																																																																					0.333	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		6	55	0	0	0	1	0	6	55				
TTN	7273	broad.mit.edu	37	2	179614673	179614673	+	Intron	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:179614673C>T	ENST00000591111.1	-	45	10585				TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.D4152N			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTAGTAATATCAGACAAAAAT	0.368																																						ENST00000360870.5																			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.(12454-12456)Gat>Aat		titin							78.0	83.0	81.0					2																	179614673		2203	4297	6500	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179614673C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+3177G>A	2.37:g.179614673C>T						TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	p.D4152N	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	12676	-			3497					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.12454G>A		.	.	.	.	.	.	.	.	.	.	C	26.4	4.738299	0.89573	.	.	ENSG00000155657	ENST00000360870	T	0.58652	0.32	5.11	5.11	0.69529	.	.	.	.	.	T	0.63827	0.2544	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.69479	0.964	T	0.56667	-0.7941	9	0.19147	T	0.46	.	19.4297	0.94759	0.0:1.0:0.0:0.0	.	4152	Q8WZ42-6	.	N	4152	ENSP00000354117:D4152N	ENSP00000354117:D4152N	D	-	1	0	TTN	179322918	1.000000	0.71417	0.952000	0.39060	0.574000	0.36063	7.460000	0.80816	2.765000	0.95021	0.655000	0.94253	GAT		0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		17	36	0	0	0	1	0	17	36				
LILRA6	79168	broad.mit.edu	37	19	54744365	54744365	+	Missense_Mutation	SNP	C	C	T	rs376065709		TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:54744365C>T	ENST00000396365.2	-	6	1082	c.1043G>A	c.(1042-1044)cGg>cAg	p.R348Q	LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000419410.2_Missense_Mutation_p.R348Q|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000245621.5_Missense_Mutation_p.R348Q	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	348	Ig-like C2-type 2.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AAAATAACCCCGTGACTGACA	0.547													.|||	1	0.000199681	0.0008	0.0	5008	,	,		17825	0.0		0.0	False		,,,				2504	0.0					ENST00000419410.2																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38						c.(1042-1044)cGg>cAg		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6		T	GLN/ARG	0,4010		0,0,2005	68.0	92.0	84.0		1043	-3.7	0.0	19		84	1,8385		0,1,4192	no	missense	LILRA6	NM_024318.2	43	0,1,6197	TT,TC,CC		0.0119,0.0,0.0081		348/482	54744365	1,12395	2005	4193	6198	SO:0001583	missense	79168							g.chr19:54744365C>T	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15495	protein-coding gene	gene with protein product			"""leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"""	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.1043G>A	19.37:g.54744365C>T	ENSP00000379651:p.Arg348Gln					LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000245621.5_Missense_Mutation_p.R348Q|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000396365.2_Missense_Mutation_p.R348Q|LILRA6_ENST00000391735.3_3'UTR	p.R348Q						GBM - Glioblastoma multiforme(193;0.105)	6	1044	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)								Missense_Mutation	SNP	ENST00000396365.2	37	c.1043G>A	CCDS42610.1	.	.	.	.	.	.	.	.	.	.	T	0.005	-2.146820	0.00328	0.0	1.19E-4	ENSG00000244482	ENST00000419410;ENST00000421123;ENST00000396365;ENST00000245621	T;T;T	0.03035	4.07;4.07;4.07	1.86	-3.72	0.04411	Immunoglobulin subtype (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	3.978030	0.00550	N	0.000242	T	0.01156	0.0038	N	0.03016	-0.435	0.09310	N	1	B;P;B	0.47841	0.025;0.901;0.014	B;B;B	0.30943	0.007;0.122;0.04	T	0.46414	-0.9193	10	0.09338	T	0.73	.	3.3272	0.07071	0.4072:0.2286:0.0:0.3642	.	348;348;348	C9JFH3;Q6PI73;D3YTC4	.;LIRA6_HUMAN;.	Q	348	ENSP00000411227:R348Q;ENSP00000379651:R348Q;ENSP00000245621:R348Q	ENSP00000245621:R348Q	R	-	2	0	LILRA6	59436177	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-4.355000	0.00247	-3.280000	0.00197	-1.051000	0.02340	CGG		0.547	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318		53	69	0	0	0	1	0	53	69				
CD302	9936	broad.mit.edu	37	2	160639928	160639928	+	Silent	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:160639928G>C	ENST00000259053.4	-	2	163	c.120C>G	c.(118-120)ctC>ctG	p.L40L	CD302_ENST00000480212.1_5'UTR|LY75_ENST00000554112.1_Silent_p.L1681L|LY75_ENST00000553424.1_Silent_p.L1625L|CD302_ENST00000429078.2_Silent_p.L40L|LY75-CD302_ENST00000504764.1_Silent_p.L1681L|LY75-CD302_ENST00000505052.1_Silent_p.L1625L	NM_001198764.1|NM_014880.4	NP_001185693.1|NP_055695.2	Q8IX05	CD302_HUMAN	CD302 molecule	40	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				phagocytosis (GO:0006909)	cell cortex (GO:0005938)|filopodium (GO:0030175)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						TGGCTTCTTGGAGAAAAATGT	0.333																																						ENST00000504764.1																			0											c.(5041-5043)ctC>ctG									131.0	132.0	131.0					2																	160639928		2203	4300	6503	SO:0001819	synonymous_variant	100526664				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding	g.chr2:160639928G>C	AY314007	CCDS33308.1, CCDS56139.1, CCDS74595.1	2q24.2	2011-08-30	2006-03-28		ENSG00000241399	ENSG00000241399		"""CD molecules"", ""C-type lectin domain containing"""	30843	protein-coding gene	gene with protein product	"""C-type lectin domain family 13, member A"""	612246	"""CD302 antigen"""			7584026, 7584028	Standard	NM_014880		Approved	DCL-1, KIAA0022, BIMLEC, CLEC13A		Q8IX05	OTTHUMG00000154080	ENST00000259053.4:c.120C>G	2.37:g.160639928G>C						CD302_ENST00000429078.2_Silent_p.L40L|LY75_ENST00000554112.1_Silent_p.L1681L|LY75_ENST00000553424.1_Silent_p.L1625L|CD302_ENST00000480212.1_5'UTR|CD302_ENST00000259053.4_Silent_p.L40L|LY75-CD302_ENST00000505052.1_Silent_p.L1625L	p.L1681L	NM_001198759.1	NP_001185688.1	O60449	LY75_HUMAN			35	5070	-			1550					A8K5G4|B4E2T9|Q15009	Silent	SNP	ENST00000259053.4	37	c.5043C>G	CCDS33308.1																																																																																				0.333	CD302-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333760.1	NM_014880		10	62	0	0	0	1	0	10	62				
FCER1G	2207	broad.mit.edu	37	1	161188709	161188709	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:161188709G>A	ENST00000289902.1	+	5	262	c.237G>A	c.(235-237)ctG>ctA	p.L79L	FCER1G_ENST00000367992.3_Intron|FCER1G_ENST00000490414.1_3'UTR|AL590714.1_ENST00000594609.1_5'Flank	NM_004106.1	NP_004097.1	P30273	FCERG_HUMAN	Fc fragment of IgE, high affinity I, receptor for; gamma polypeptide	79	ITAM. {ECO:0000255|PROSITE- ProRule:PRU00379}.				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 II (GO:0019886)|blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|mast cell activation (GO:0045576)|negative regulation of mast cell apoptotic process (GO:0033026)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|phagocytosis, engulfment (GO:0006911)|platelet activation (GO:0030168)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of mast cell cytokine production (GO:0032765)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of phagocytosis (GO:0050766)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I hypersensitivity (GO:0001812)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation of type III hypersensitivity (GO:0001805)|protein localization to plasma membrane (GO:0072659)|regulation of platelet activation (GO:0010543)|serotonin secretion by platelet (GO:0002554)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|Fc-epsilon receptor I complex (GO:0032998)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	IgE receptor activity (GO:0019767)			endometrium(1)|lung(5)	6	all_cancers(52;1.35e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Benzylpenicilloyl Polylysine(DB00895)	ACGAGACTCTGAAGCATGAGA	0.532																																						ENST00000289902.1																			0				endometrium(1)|lung(5)	6						c.(235-237)ctG>ctA		Fc fragment of IgE, high affinity I, receptor for; gamma polypeptide	Benzylpenicilloyl Polylysine(DB00895)						125.0	126.0	126.0					1																	161188709		2203	4300	6503	SO:0001819	synonymous_variant	2207				platelet activation	integral to plasma membrane		g.chr1:161188709G>A		CCDS1225.1	1q23	2008-02-05			ENSG00000158869	ENSG00000158869			3611	protein-coding gene	gene with protein product		147139				2138619	Standard	NM_004106		Approved		uc001fyz.1	P30273	OTTHUMG00000034343	ENST00000289902.1:c.237G>A	1.37:g.161188709G>A						FCER1G_ENST00000367992.3_Intron|FCER1G_ENST00000490414.1_3'UTR	p.L79L	NM_004106.1	NP_004097.1	P30273	FCERG_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		5	262	+	all_cancers(52;1.35e-17)|all_hematologic(112;0.093)		79			ITAM.		Q5VTW4	Silent	SNP	ENST00000289902.1	37	c.237G>A	CCDS1225.1																																																																																				0.532	FCER1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083012.1	NM_004106		52	81	0	0	0	1	0	52	81				
SBNO1	55206	broad.mit.edu	37	12	123812020	123812020	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:123812020G>A	ENST00000602398.1	-	13	1772	c.1645C>T	c.(1645-1647)Ctt>Ttt	p.L549F	SBNO1_ENST00000267176.4_Missense_Mutation_p.L548F|SBNO1_ENST00000602750.1_Missense_Mutation_p.L548F|SBNO1_ENST00000420886.2_Missense_Mutation_p.L549F			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	549					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TGAGAAAGAAGAACTTCCTCA	0.358																																						ENST00000420886.2																			0				NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62						c.(1645-1647)Ctt>Ttt		strawberry notch homolog 1 (Drosophila)							66.0	65.0	65.0					12																	123812020		2203	4300	6503	SO:0001583	missense	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123812020G>A	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.1645C>T	12.37:g.123812020G>A	ENSP00000473665:p.Leu549Phe					SBNO1_ENST00000267176.4_Missense_Mutation_p.L548F|SBNO1_ENST00000602750.1_Missense_Mutation_p.L548F|SBNO1_ENST00000602398.1_Missense_Mutation_p.L549F	p.L549F	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	12	1644	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		549					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	c.1645C>T	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.033501	0.54896	.	.	ENSG00000139697	ENST00000420886;ENST00000267176;ENST00000442601	T;T	0.30714	1.52;1.52	6.04	6.04	0.98038	.	0.060025	0.64402	D	0.000001	T	0.31389	0.0795	L	0.29908	0.895	0.54753	D	0.999989	B;B;P	0.52692	0.009;0.004;0.955	B;B;B	0.44085	0.027;0.003;0.44	T	0.02683	-1.1124	10	0.59425	D	0.04	-24.1519	20.5792	0.99380	0.0:0.0:1.0:0.0	.	549;548;547	A3KN83;A3KN83-2;A3KN83-3	SBNO1_HUMAN;.;.	F	549;548;548	ENSP00000387361:L549F;ENSP00000267176:L548F	ENSP00000267176:L548F	L	-	1	0	SBNO1	122377973	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.988000	0.88194	2.873000	0.98535	0.561000	0.74099	CTT		0.358	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		4	58	0	0	0	1	0	4	58				
CTNNA3	29119	broad.mit.edu	37	10	68979540	68979540	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr10:68979540G>A	ENST00000433211.2	-	6	842	c.668C>T	c.(667-669)tCa>tTa	p.S223L	CTNNA3_ENST00000545309.1_Missense_Mutation_p.S223L|CTNNA3_ENST00000373744.4_Missense_Mutation_p.S223L	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CAAACAAGCTGAACAAATTGA	0.413																																						ENST00000433211.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						c.(667-669)tCa>tTa		catenin (cadherin-associated protein), alpha 3							103.0	102.0	102.0					10																	68979540		2203	4300	6503	SO:0001583	missense	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:68979540G>A	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.668C>T	10.37:g.68979540G>A	ENSP00000389714:p.Ser223Leu					CTNNA3_ENST00000373744.4_Missense_Mutation_p.S223L|CTNNA3_ENST00000545309.1_Missense_Mutation_p.S223L	p.S223L	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN			6	842	-			223						Missense_Mutation	SNP	ENST00000433211.2	37	c.668C>T	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995063	0.74703	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000545309	T;T;T	0.36699	1.24;1.24;1.24	5.42	5.42	0.78866	.	0.163980	0.28712	N	0.014392	T	0.28400	0.0702	N	0.19112	0.55	0.28898	N	0.893458	P;P;B;B	0.38300	0.626;0.626;0.002;0.44	B;B;B;B	0.40782	0.34;0.34;0.021;0.096	T	0.21895	-1.0232	10	0.51188	T	0.08	-2.7068	13.0099	0.58725	0.0:0.0:0.8383:0.1617	.	223;223;223;223	A8K141;F2Z2R0;Q9UI47-2;Q9UI47	.;.;.;CTNA3_HUMAN	L	223	ENSP00000389714:S223L;ENSP00000362849:S223L;ENSP00000441444:S223L	ENSP00000362849:S223L	S	-	2	0	CTNNA3	68649546	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.377000	0.59562	2.541000	0.85698	0.591000	0.81541	TCA		0.413	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		8	92	0	0	0	1	0	8	92				
GLI1	2735	broad.mit.edu	37	12	57865022	57865022	+	Silent	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:57865022C>G	ENST00000228682.2	+	12	2590	c.2499C>G	c.(2497-2499)ctC>ctG	p.L833L	GLI1_ENST00000543426.1_Silent_p.L705L|GLI1_ENST00000546141.1_Silent_p.L792L	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	833					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CACCCTGCCTCAATGCCCACC	0.592																																					Pancreas(157;841 1936 10503 41495 50368)	ENST00000228682.2																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(2497-2499)ctC>ctG		GLI family zinc finger 1							68.0	77.0	74.0					12																	57865022		2203	4300	6503	SO:0001819	synonymous_variant	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57865022C>G		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.2499C>G	12.37:g.57865022C>G						GLI1_ENST00000543426.1_Silent_p.L705L|GLI1_ENST00000546141.1_Silent_p.L792L	p.L833L	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		12	2590	+			833					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Silent	SNP	ENST00000228682.2	37	c.2499C>G	CCDS8940.1																																																																																				0.592	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		12	128	0	0	0	1	0	12	128				
NBR1	4077	broad.mit.edu	37	17	41342660	41342660	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr17:41342660G>A	ENST00000422280.1	+	9	1189	c.730G>A	c.(730-732)Gaa>Aaa	p.E244K	NBR1_ENST00000589872.1_Missense_Mutation_p.E244K|NBR1_ENST00000542611.1_Missense_Mutation_p.E223K|NBR1_ENST00000389312.4_Missense_Mutation_p.E244K|NBR1_ENST00000341165.6_Missense_Mutation_p.E244K|NBR1_ENST00000590996.1_Missense_Mutation_p.E244K	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	244					macroautophagy (GO:0016236)|negative regulation of osteoblast differentiation (GO:0045668)|protein oligomerization (GO:0051259)|regulation of bone mineralization (GO:0030500)|regulation of stress-activated MAPK cascade (GO:0032872)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	mitogen-activated protein kinase binding (GO:0051019)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		TGAAGATTGTGAAGCAGGGCC	0.488																																						ENST00000422280.1																			0				NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24						c.(730-732)Gaa>Aaa		neighbor of BRCA1 gene 1							99.0	90.0	93.0					17																	41342660		1938	4144	6082	SO:0001583	missense	4077				macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding	g.chr17:41342660G>A	X76952	CCDS45694.1	17q21.31	2008-02-01	2005-02-15	2005-02-16		ENSG00000188554			6746	protein-coding gene	gene with protein product		166945	"""membrane component, chromosome 17, surface marker 2 (ovarian carcinoma antigen CA125)"""	M17S2		8069304	Standard	XM_006721903		Approved	CA125, KIAA0049, 1A1-3B	uc010whv.2	Q14596		ENST00000422280.1:c.730G>A	17.37:g.41342660G>A	ENSP00000411250:p.Glu244Lys					NBR1_ENST00000590996.1_Missense_Mutation_p.E244K|NBR1_ENST00000589872.1_Missense_Mutation_p.E244K|NBR1_ENST00000542611.1_Missense_Mutation_p.E223K|NBR1_ENST00000341165.6_Missense_Mutation_p.E244K|NBR1_ENST00000389312.4_Missense_Mutation_p.E244K	p.E244K	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0934)	9	1189	+		Breast(137;0.00086)	244					Q13173|Q15026|Q5J7Q8|Q96GB6|Q9NRF7	Missense_Mutation	SNP	ENST00000422280.1	37	c.730G>A	CCDS45694.1	.	.	.	.	.	.	.	.	.	.	G	32	5.155140	0.94686	.	.	ENSG00000188554	ENST00000422280;ENST00000542611;ENST00000341165;ENST00000389312;ENST00000389311	D;D;D;D	0.91068	-2.78;-2.78;-2.78;-2.78	5.96	5.96	0.96718	Zinc finger, ZZ-type (3);	0.123184	0.64402	D	0.000007	D	0.95642	0.8583	M	0.78801	2.425	0.44862	D	0.997879	D;D;D;D	0.89917	1.0;1.0;0.984;1.0	D;D;P;D	0.97110	1.0;1.0;0.853;1.0	D	0.95186	0.8304	10	0.66056	D	0.02	-16.6037	20.422	0.99049	0.0:0.0:1.0:0.0	.	244;223;244;244	A8K1U0;B7Z5R6;Q14596-2;Q14596	.;.;.;NBR1_HUMAN	K	244;223;244;244;244	ENSP00000411250:E244K;ENSP00000437545:E223K;ENSP00000343479:E244K;ENSP00000373963:E244K	ENSP00000343479:E244K	E	+	1	0	NBR1	38596186	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.744000	0.74854	2.832000	0.97577	0.655000	0.94253	GAA		0.488	NBR1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453461.1	NM_005899		13	14	0	0	0	1	0	13	14				
KRT76	51350	broad.mit.edu	37	12	53169247	53169247	+	Nonsense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:53169247G>C	ENST00000332411.2	-	2	793	c.740C>G	c.(739-741)tCa>tGa	p.S247*		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	247	Coil 1B.|Rod.				cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCCTAGAAGTGAATCTAGCTG	0.542																																						ENST00000332411.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(739-741)tCa>tGa		keratin 76							143.0	145.0	144.0					12																	53169247		2203	4300	6503	SO:0001587	stop_gained	51350				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53169247G>C	M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.740C>G	12.37:g.53169247G>C	ENSP00000330101:p.Ser247*						p.S247*	NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN			2	793	-			247			Coil 1B.|Rod.		B4DRR3|Q7Z795	Nonsense_Mutation	SNP	ENST00000332411.2	37	c.740C>G	CCDS8838.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.182808	0.38511	.	.	ENSG00000185069	ENST00000332411	.	.	.	4.56	-5.81	0.02340	.	1.359770	0.05429	N	0.545522	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	4.8142	0.13358	0.1806:0.1633:0.5661:0.09	.	.	.	.	X	247	.	ENSP00000330101:S247X	S	-	2	0	KRT76	51455514	0.000000	0.05858	0.001000	0.08648	0.207000	0.24258	-2.178000	0.01260	-0.850000	0.04152	0.462000	0.41574	TCA		0.542	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405928.1	NM_015848		97	159	0	0	0	1	0	97	159				
DENND4A	10260	broad.mit.edu	37	15	65983235	65983235	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr15:65983235C>T	ENST00000431932.2	-	22	3773	c.3565G>A	c.(3565-3567)Gaa>Aaa	p.E1189K	DENND4A_ENST00000567323.1_5'Flank|DENND4A_ENST00000443035.3_Missense_Mutation_p.E1232K	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1189	Poly-Glu.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						CTATCATCTTCATCCTCCTCC	0.403																																						ENST00000443035.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(3694-3696)Gaa>Aaa		DENN/MADD domain containing 4A							79.0	75.0	76.0					15																	65983235		1974	4156	6130	SO:0001583	missense	10260				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr15:65983235C>T	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.3565G>A	15.37:g.65983235C>T	ENSP00000396830:p.Glu1189Lys					DENND4A_ENST00000431932.2_Missense_Mutation_p.E1189K	p.E1232K	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN			23	3909	-			1189					E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	ENST00000431932.2	37	c.3694G>A	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.149132	0.37923	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.05139	3.5;3.49	5.22	4.29	0.51040	.	1.432640	0.03926	N	0.284500	T	0.10337	0.0253	L	0.51422	1.61	0.33673	D	0.611177	B;B	0.18741	0.001;0.03	B;B	0.18561	0.002;0.022	T	0.16837	-1.0389	10	0.56958	D	0.05	.	10.2699	0.43477	0.0:0.9036:0.0:0.0964	.	1232;1189	E7EPL3;Q7Z401	.;MYCPP_HUMAN	K	1232;1189	ENSP00000391167:E1232K;ENSP00000396830:E1189K	ENSP00000396830:E1189K	E	-	1	0	DENND4A	63770289	0.763000	0.28462	0.927000	0.36925	0.998000	0.95712	1.937000	0.40193	2.617000	0.88574	0.655000	0.94253	GAA		0.403	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848		9	10	0	0	0	1	0	9	10				
OIT3	170392	broad.mit.edu	37	10	74684020	74684020	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr10:74684020G>A	ENST00000334011.5	+	7	1203	c.985G>A	c.(985-987)Gtg>Atg	p.V329M		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	329	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					CAGCAACCTCGTGACAGGTCT	0.552																																					Colon(7;19 345 13446 17537)	ENST00000334011.5																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35						c.(985-987)Gtg>Atg		oncoprotein induced transcript 3							84.0	84.0	84.0					10																	74684020		2203	4300	6503	SO:0001583	missense	170392					nuclear envelope	calcium ion binding	g.chr10:74684020G>A		CCDS7318.1	10q22.2-q22.3	2004-04-21			ENSG00000138315	ENSG00000138315			29953	protein-coding gene	gene with protein product		609330				12975309, 12939600	Standard	NM_152635		Approved	LZP, FLJ39116	uc001jte.1	Q8WWZ8	OTTHUMG00000018444	ENST00000334011.5:c.985G>A	10.37:g.74684020G>A	ENSP00000333900:p.Val329Met						p.V329M	NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN			7	1203	+	Prostate(51;0.0198)		329			ZP.		A0AVP3|Q8N1M8	Missense_Mutation	SNP	ENST00000334011.5	37	c.985G>A	CCDS7318.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.021638	0.75275	.	.	ENSG00000138315	ENST00000334011	D	0.83163	-1.69	5.72	5.72	0.89469	Zona pellucida sperm-binding protein (3);	0.000000	0.51477	D	0.000082	D	0.91372	0.7278	M	0.74881	2.28	0.53688	D	0.999977	D	0.89917	1.0	D	0.91635	0.999	D	0.91326	0.5086	10	0.62326	D	0.03	-20.2615	19.879	0.96888	0.0:0.0:1.0:0.0	.	329	Q8WWZ8	OIT3_HUMAN	M	329	ENSP00000333900:V329M	ENSP00000333900:V329M	V	+	1	0	OIT3	74354026	1.000000	0.71417	0.973000	0.42090	0.747000	0.42532	7.500000	0.81588	2.695000	0.91970	0.655000	0.94253	GTG		0.552	OIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048596.1	NM_152635		13	160	0	0	0	1	0	13	160				
KCND2	3751	broad.mit.edu	37	7	119914796	119914796	+	Missense_Mutation	SNP	G	G	A	rs529186706		TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr7:119914796G>A	ENST00000331113.4	+	1	1075	c.110G>A	c.(109-111)aGg>aAg	p.R37K		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	37					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	GAGAGGAAAAGGACCCAAGAT	0.622													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16833	0.0		0.0	False		,,,				2504	0.0					ENST00000331113.4																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75						c.(109-111)aGg>aAg		potassium voltage-gated channel, Shal-related subfamily, member 2							121.0	135.0	130.0					7																	119914796		2203	4300	6503	SO:0001583	missense	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:119914796G>A	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.110G>A	7.37:g.119914796G>A	ENSP00000333496:p.Arg37Lys						p.R37K	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN			1	1075	+	all_neural(327;0.117)		37					O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	ENST00000331113.4	37	c.110G>A	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.375287	0.42105	.	.	ENSG00000184408	ENST00000331113	D	0.96522	-4.04	5.51	5.51	0.81932	.	0.059979	0.56097	D	0.000022	D	0.91109	0.7201	N	0.11651	0.15	0.44454	D	0.997381	B	0.02656	0.0	B	0.01281	0.0	D	0.86707	0.1933	9	.	.	.	.	19.427	0.94746	0.0:0.0:1.0:0.0	.	37	Q9NZV8	KCND2_HUMAN	K	37	ENSP00000333496:R37K	.	R	+	2	0	KCND2	119702032	0.998000	0.40836	0.998000	0.56505	0.988000	0.76386	4.276000	0.58933	2.603000	0.88011	0.655000	0.94253	AGG		0.622	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		125	248	0	0	0	1	0	125	248				
BCL11B	64919	broad.mit.edu	37	14	99641460	99641460	+	Silent	SNP	A	A	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr14:99641460A>C	ENST00000357195.3	-	4	1722	c.1713T>G	c.(1711-1713)ggT>ggG	p.G571G	BCL11B_ENST00000443726.2_Silent_p.G377G|BCL11B_ENST00000345514.2_Silent_p.G500G	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	571	Gly-rich.				alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		cgggcACCCCACCACCGCCGT	0.706			T	TLX3	T-ALL																																	ENST00000345514.2				Dom	yes		14	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)			L	TLX3		T-ALL		0				NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34						c.(1498-1500)ggT>ggG		B-cell CLL/lymphoma 11B (zinc finger protein)							6.0	8.0	7.0					14																	99641460		2053	3952	6005	SO:0001819	synonymous_variant	64919					nucleus	zinc ion binding	g.chr14:99641460A>C	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"""Zinc fingers, C2H2-type"""	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.1713T>G	14.37:g.99641460A>C						BCL11B_ENST00000357195.3_Silent_p.G571G|BCL11B_ENST00000443726.2_Silent_p.G377G	p.G500G	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	3	1766	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	571					Q9H162	Silent	SNP	ENST00000357195.3	37	c.1500T>G	CCDS9950.1																																																																																				0.706	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		6	4	0	0	0	1	0	6	4				
STX12	23673	broad.mit.edu	37	1	28138698	28138698	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:28138698G>A	ENST00000373943.4	+	6	620	c.495G>A	c.(493-495)caG>caA	p.Q165Q		NM_177424.2	NP_803173.1	Q86Y82	STX12_HUMAN	syntaxin 12	165					cholesterol efflux (GO:0033344)|intracellular protein transport (GO:0006886)|protein stabilization (GO:0050821)|synaptic vesicle exocytosis (GO:0016079)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649)		ACCAGATGCAGAGCCAGGAGG	0.493																																					Ovarian(5;5 342 2097 9488 34083)	ENST00000373943.4																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(3)	8						c.(493-495)caG>caA		syntaxin 12							83.0	71.0	75.0					1																	28138698		2200	4290	6490	SO:0001819	synonymous_variant	23673				cholesterol efflux|intracellular protein transport|protein stabilization|vesicle-mediated transport	Golgi apparatus|integral to membrane|membrane raft|phagocytic vesicle	SNAP receptor activity	g.chr1:28138698G>A	BC046999	CCDS310.1	1p35.3	2008-05-14			ENSG00000117758	ENSG00000117758			11430	protein-coding gene	gene with protein product		606892				9507000	Standard	NM_177424		Approved	STX13, STX14	uc001bou.4	Q86Y82	OTTHUMG00000003730	ENST00000373943.4:c.495G>A	1.37:g.28138698G>A							p.Q165Q	NM_177424.2	NP_803173.1	Q86Y82	STX12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649)	6	620	+		Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	165					B1AJQ7|O95564	Silent	SNP	ENST00000373943.4	37	c.495G>A	CCDS310.1																																																																																				0.493	STX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010519.1	NM_177424		3	5	0	0	0	1	0	3	5				
ITPR3	3710	broad.mit.edu	37	6	33646584	33646584	+	Missense_Mutation	SNP	G	G	C	rs139994078		TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:33646584G>C	ENST00000374316.5	+	31	5000	c.3940G>C	c.(3940-3942)Gtc>Ctc	p.V1314L	ITPR3_ENST00000605930.1_Missense_Mutation_p.V1314L			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1314					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	GGGCAAGTACGTCAAGAAGTG	0.627																																						ENST00000374316.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(3940-3942)Gtc>Ctc		inositol 1,4,5-trisphosphate receptor, type 3							53.0	44.0	47.0					6																	33646584		2203	4300	6503	SO:0001583	missense	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33646584G>C	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.3940G>C	6.37:g.33646584G>C	ENSP00000363435:p.Val1314Leu					ITPR3_ENST00000605930.1_Missense_Mutation_p.V1314L	p.V1314L			Q14573	ITPR3_HUMAN			31	5000	+			1314					Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.3940G>C	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.812278	0.70912	.	.	ENSG00000096433	ENST00000374316	D	0.97114	-4.25	5.18	4.29	0.51040	Intracellular calcium-release channel (1);	0.062063	0.64402	D	0.000004	D	0.93930	0.8057	L	0.29908	0.895	0.42093	D	0.991305	P	0.42409	0.779	P	0.55112	0.769	D	0.93203	0.6593	10	0.48119	T	0.1	-53.6222	6.1583	0.20350	0.15:0.0:0.6952:0.1548	.	1314	Q14573	ITPR3_HUMAN	L	1314	ENSP00000363435:V1314L	ENSP00000363435:V1314L	V	+	1	0	ITPR3	33754562	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.049000	0.49869	1.278000	0.44430	0.561000	0.74099	GTC		0.627	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		15	24	0	0	0	1	0	15	24				
GNL2	29889	broad.mit.edu	37	1	38056446	38056446	+	Splice_Site	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:38056446C>G	ENST00000373062.3	-	4	343	c.245G>C	c.(244-246)gGa>gCa	p.G82A		NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	82					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				ACGTGTGTTTCCTGTTTTACA	0.363																																						ENST00000373062.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30						c.e4-1		guanine nucleotide binding protein-like 2 (nucleolar)							131.0	121.0	124.0					1																	38056446		2203	4300	6503	SO:0001630	splice_region_variant	29889				ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding	g.chr1:38056446C>G	L05425	CCDS421.1	1p34	2008-02-05			ENSG00000134697	ENSG00000134697			29925	protein-coding gene	gene with protein product		609365				8822211	Standard	NM_013285		Approved	Ngp-1, HUMAUANTIG	uc001cbk.3	Q13823	OTTHUMG00000004322	ENST00000373062.3:c.245-1G>C	1.37:g.38056446C>G							p.G82_splice	NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN			4	343	-		Myeloproliferative disorder(586;0.0393)	82					Q9BWN7	Splice_Site	SNP	ENST00000373062.3	37	c.244_splice	CCDS421.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.383215	0.61845	.	.	ENSG00000134697	ENST00000373062	T	0.29397	1.57	5.76	5.76	0.90799	Nucleolar GTPase, NGP1-type (1);	0.103117	0.64402	D	0.000002	T	0.49762	0.1576	L	0.61036	1.89	0.80722	D	1	B;B	0.31581	0.329;0.329	P;P	0.47075	0.536;0.536	T	0.41342	-0.9514	10	0.49607	T	0.09	.	19.9576	0.97228	0.0:1.0:0.0:0.0	.	82;82	Q5T0F3;Q13823	.;NOG2_HUMAN	A	82	ENSP00000362153:G82A	ENSP00000362153:G82A	G	-	2	0	GNL2	37829033	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.055000	0.71103	2.736000	0.93811	0.655000	0.94253	GGA		0.363	GNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012478.1	NM_013285	Missense_Mutation	3	51	0	0	0	1	0	3	51				
PLAG1	5324	broad.mit.edu	37	8	57078869	57078869	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr8:57078869G>A	ENST00000316981.3	-	5	1915	c.1436C>T	c.(1435-1437)tCa>tTa	p.S479L	PLAG1_ENST00000429357.2_Missense_Mutation_p.S479L|PLAG1_ENST00000423799.2_Missense_Mutation_p.S397L	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	479	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Massively activates transcription.				gland morphogenesis (GO:0022612)|multicellular organism growth (GO:0035264)|negative regulation of gene expression (GO:0010629)|organ growth (GO:0035265)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			GAAAGCTGCTGACAGTGAGTG	0.478			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma																																	ENST00000316981.3				Dom	yes		8	8q12	5324	T	pleiomorphic adenoma gene 1			E	"""TCEA1, LIFR, CTNNB1, CHCHD7"""		salivary adenoma	CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	0				breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1435-1437)tCa>tTa		pleiomorphic adenoma gene 1							180.0	181.0	180.0					8																	57078869		2203	4300	6503	SO:0001583	missense	5324					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:57078869G>A	U65002	CCDS6165.1, CCDS47860.1	8q12	2010-07-30				ENSG00000181690		"""Zinc fingers, C2H2-type"""	9045	protein-coding gene	gene with protein product		603026				9268638	Standard	NM_002655		Approved	ZNF912	uc010lyi.3	Q6DJT9		ENST00000316981.3:c.1436C>T	8.37:g.57078869G>A	ENSP00000325546:p.Ser479Leu					PLAG1_ENST00000429357.2_Missense_Mutation_p.S479L|PLAG1_ENST00000423799.2_Missense_Mutation_p.S397L	p.S479L	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	Epithelial(17;0.00179)|all cancers(17;0.0125)		5	1915	-		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	479			Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Massively activates transcription.		B4DLC2|Q59GH8|Q9Y4L2	Missense_Mutation	SNP	ENST00000316981.3	37	c.1436C>T	CCDS6165.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.182763	0.78677	.	.	ENSG00000181690	ENST00000316981;ENST00000423799;ENST00000429357	T;T;T	0.12039	2.72;3.42;2.72	5.88	5.88	0.94601	.	0.062950	0.64402	D	0.000003	T	0.11367	0.0277	L	0.27053	0.805	0.80722	D	1	P	0.43477	0.808	B	0.33295	0.161	T	0.03684	-1.1013	10	0.51188	T	0.08	-15.2027	20.2441	0.98394	0.0:0.0:1.0:0.0	.	479	Q6DJT9	PLAG1_HUMAN	L	479;397;479	ENSP00000325546:S479L;ENSP00000404067:S397L;ENSP00000416537:S479L	ENSP00000325546:S479L	S	-	2	0	PLAG1	57241423	1.000000	0.71417	0.346000	0.25655	0.993000	0.82548	6.928000	0.75846	2.774000	0.95407	0.655000	0.94253	TCA		0.478	PLAG1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378212.1	NM_002655		69	122	0	0	0	1	0	69	122				
ASPM	259266	broad.mit.edu	37	1	197071403	197071403	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:197071403C>T	ENST00000367409.4	-	18	7234	c.6978G>A	c.(6976-6978)atG>atA	p.M2326I	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2326	IQ 22. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTTTCCTTATCATCCATCTTC	0.393																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(6976-6978)atG>atA		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							140.0	132.0	135.0					1																	197071403		2203	4300	6503	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197071403C>T	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.6978G>A	1.37:g.197071403C>T	ENSP00000356379:p.Met2326Ile					ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	p.M2326I	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			18	7234	-			2326			IQ 22.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.6978G>A	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	c	7.460	0.644529	0.14451	.	.	ENSG00000066279	ENST00000367409;ENST00000367406	T	0.70631	-0.5	4.35	-1.18	0.09617	.	0.805472	0.11159	N	0.593241	T	0.67468	0.2896	L	0.35341	1.055	0.18873	N	0.999985	B;B	0.24920	0.114;0.004	P;B	0.48334	0.574;0.017	T	0.65689	-0.6107	10	0.32370	T	0.25	.	4.4435	0.11586	0.1705:0.2398:0.0:0.5896	.	312;2326	E7EQ84;Q8IZT6	.;ASPM_HUMAN	I	2326;312	ENSP00000356379:M2326I	ENSP00000356376:M312I	M	-	3	0	ASPM	195338026	0.000000	0.05858	0.001000	0.08648	0.824000	0.46624	-0.520000	0.06252	-0.084000	0.12595	-0.258000	0.10820	ATG		0.393	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		37	55	0	0	0	1	0	37	55				
TKT	7086	broad.mit.edu	37	3	53263450	53263450	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:53263450C>T	ENST00000462138.1	-	9	1198	c.1110G>A	c.(1108-1110)gtG>gtA	p.V370V	TKT_ENST00000461139.1_5'UTR|TKT_ENST00000423525.2_Silent_p.V370V|TKT_ENST00000423516.1_Silent_p.V378V|TKT_ENST00000296289.6_Silent_p.V323V			P29401	TKT_HUMAN	transketolase	370					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|glyceraldehyde-3-phosphate biosynthetic process (GO:0046166)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|regulation of growth (GO:0040008)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|peroxisome (GO:0005777)|vesicle (GO:0031982)	cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|transketolase activity (GO:0004802)			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)		CCGCGATGCTCACCTGGGGGC	0.612																																					Colon(133;1506 2347 35238 42177)	ENST00000462138.1																			0				endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1108-1110)gtG>gtA		transketolase	Thiamine(DB00152)						25.0	23.0	24.0					3																	53263450		2203	4300	6503	SO:0001819	synonymous_variant	7086				energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity	g.chr3:53263450C>T		CCDS2871.1, CCDS58834.1	3p14.3	2008-07-31	2008-07-31		ENSG00000163931	ENSG00000163931	2.2.1.1		11834	protein-coding gene	gene with protein product	"""Wernicke-Korsakoff syndrome"""	606781				1567394	Standard	NM_001064		Approved		uc011beq.2	P29401	OTTHUMG00000158192	ENST00000462138.1:c.1110G>A	3.37:g.53263450C>T						TKT_ENST00000423525.2_Silent_p.V370V|TKT_ENST00000296289.6_Silent_p.V323V|TKT_ENST00000423516.1_Silent_p.V378V|TKT_ENST00000461139.1_5'UTR	p.V370V			P29401	TKT_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	9	1198	-		Prostate(884;0.0959)	370					A8K089|B4DE31|E7EPA7|Q8TBA3|Q96HH3	Silent	SNP	ENST00000462138.1	37	c.1110G>A	CCDS2871.1																																																																																				0.612	TKT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350356.1			13	4	0	0	0	1	0	13	4				
IRX5	10265	broad.mit.edu	37	16	54965245	54965245	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:54965245C>T	ENST00000394636.4	+	1	472	c.135C>T	c.(133-135)ttC>ttT	p.F45F	IRX5_ENST00000558597.1_5'Flank|CRNDE_ENST00000560208.1_lincRNA|IRX5_ENST00000320990.5_Silent_p.F45F|IRX5_ENST00000560154.1_Silent_p.F45F			P78411	IRX5_HUMAN	iroquois homeobox 5	45					embryonic cranial skeleton morphogenesis (GO:0048701)|gonad development (GO:0008406)|neuron maturation (GO:0042551)|regulation of heart rate (GO:0002027)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|vitamin D binding (GO:0005499)			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						GCTCCGCGTTCTCGCCCTACG	0.736																																						ENST00000394636.4																			0				kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						c.(133-135)ttC>ttT		iroquois homeobox 5							22.0	24.0	23.0					16																	54965245		2196	4296	6492	SO:0001819	synonymous_variant	10265				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding	g.chr16:54965245C>T	U90309	CCDS10751.1, CCDS58462.1	16q12.2	2011-06-20	2007-07-13		ENSG00000176842	ENSG00000176842		"""Homeoboxes / TALE class"""	14361	protein-coding gene	gene with protein product		606195					Standard	NM_005853		Approved	IRX-2a	uc002ehv.3	P78411	OTTHUMG00000133201	ENST00000394636.4:c.135C>T	16.37:g.54965245C>T						IRX5_ENST00000320990.5_Silent_p.F45F|IRX5_ENST00000560154.1_Silent_p.F45F	p.F45F			P78411	IRX5_HUMAN			1	472	+			45					H0YMS7|P78416|Q7Z2E1	Silent	SNP	ENST00000394636.4	37	c.135C>T	CCDS10751.1																																																																																				0.736	IRX5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256911.2			13	42	0	0	0	1	0	13	42				
PM20D1	148811	broad.mit.edu	37	1	205801748	205801748	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:205801748C>T	ENST00000367136.4	-	11	1307	c.1263G>A	c.(1261-1263)ccG>ccA	p.P421P	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	421					negative regulation of neuron death (GO:1901215)|regulation of defense response to virus by host (GO:0050691)|regulation of viral process (GO:0050792)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|peptidase activity (GO:0008233)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			TATTGACTTCCGGGAAGACGG	0.572																																						ENST00000367136.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28						c.(1261-1263)ccG>ccA		peptidase M20 domain containing 1							71.0	64.0	67.0					1																	205801748		2203	4300	6503	SO:0001819	synonymous_variant	148811					extracellular region	metal ion binding|peptidase activity	g.chr1:205801748C>T		CCDS1460.1	1q32.1	2008-02-05			ENSG00000162877	ENSG00000162877			26518	protein-coding gene	gene with protein product							Standard	NM_152491		Approved	FLJ32569, Cps1	uc001hdj.3	Q6GTS8	OTTHUMG00000035999	ENST00000367136.4:c.1263G>A	1.37:g.205801748C>T						PM20D1_ENST00000460624.1_5'UTR	p.P421P	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0252)		11	1307	-	Breast(84;0.201)		421					Q6P4E3|Q96DM4	Silent	SNP	ENST00000367136.4	37	c.1263G>A	CCDS1460.1																																																																																				0.572	PM20D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087736.1	NM_152491		31	64	0	0	0	1	0	31	64				
BCL11A	53335	broad.mit.edu	37	2	60688601	60688601	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:60688601G>A	ENST00000335712.6	-	4	1673	c.1446C>T	c.(1444-1446)aaC>aaT	p.N482N	BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Silent_p.N482N|BCL11A_ENST00000537768.1_Silent_p.N151N|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000538214.1_Silent_p.N448N|BCL11A_ENST00000358510.4_Silent_p.N448N	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	482	Glu-rich.				B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			cctcgtccccgttctccGGGA	0.632			T	IGH@	B-CLL																																	ENST00000335712.6				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59						c.(1444-1446)aaC>aaT		B-cell CLL/lymphoma 11A (zinc finger protein)							18.0	18.0	18.0					2																	60688601		2203	4296	6499	SO:0001819	synonymous_variant	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60688601G>A	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.1446C>T	2.37:g.60688601G>A						BCL11A_ENST00000358510.4_Silent_p.N448N|BCL11A_ENST00000356842.4_Silent_p.N482N|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000537768.1_Silent_p.N151N|BCL11A_ENST00000538214.1_Silent_p.N448N	p.N482N	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	1673	-			482			Glu-rich.		D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Silent	SNP	ENST00000335712.6	37	c.1446C>T	CCDS1862.1																																																																																				0.632	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		7	32	0	0	0	1	0	7	32				
LSM3	27258	broad.mit.edu	37	3	14223081	14223081	+	Nonsense_Mutation	SNP	G	G	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:14223081G>T	ENST00000306024.3	+	2	546	c.43G>T	c.(43-45)Gag>Tag	p.E15*	XPC_ENST00000285021.7_5'Flank	NM_014463.2	NP_055278.1	P62310	LSM3_HUMAN	LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae)	15					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|large_intestine(2)|ovary(1)	4						cAACACTGTAGAGGAGCCCCT	0.408																																						ENST00000306024.3																			0				central_nervous_system(1)|large_intestine(2)|ovary(1)	4						c.(43-45)Gag>Tag		LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae)							124.0	134.0	131.0					3																	14223081		2203	4300	6503	SO:0001587	stop_gained	27258				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	catalytic step 2 spliceosome|cytosol	protein binding|RNA binding	g.chr3:14223081G>T	AF182289	CCDS2619.1	3p25.1	2012-08-15			ENSG00000170860	ENSG00000170860			17874	protein-coding gene	gene with protein product		607283				10369684	Standard	NM_014463		Approved	YLR438C, SMX4, USS2	uc003byn.3	P62310	OTTHUMG00000129838	ENST00000306024.3:c.43G>T	3.37:g.14223081G>T	ENSP00000302160:p.Glu15*						p.E15*	NM_014463.2	NP_055278.1	P62310	LSM3_HUMAN			2	546	+			15					Q6IAH0|Q9Y4Z1	Nonsense_Mutation	SNP	ENST00000306024.3	37	c.43G>T	CCDS2619.1	.	.	.	.	.	.	.	.	.	.	G	42	9.728205	0.99249	.	.	ENSG00000170860	ENST00000306024	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-20.7363	19.0108	0.92872	0.0:0.0:1.0:0.0	.	.	.	.	X	15	.	ENSP00000302160:E15X	E	+	1	0	LSM3	14198085	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.913000	0.92730	2.577000	0.86979	0.655000	0.94253	GAG		0.408	LSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252078.3	NM_014463		10	193	1	0	3.86212e-05	1	3.90997e-05	10	193				
ACTL7A	10881	broad.mit.edu	37	9	111625061	111625061	+	Silent	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:111625061C>G	ENST00000333999.3	+	1	459	c.459C>G	c.(457-459)ctC>ctG	p.L153L		NM_006687.2	NP_006678.1	Q9Y615	ACL7A_HUMAN	actin-like 7A	153						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|male germ cell nucleus (GO:0001673)|motile cilium (GO:0031514)|nucleus (GO:0005634)|protein complex (GO:0043234)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGGAATATCTCTTCCGACAAG	0.507																																					Esophageal Squamous(177;1480 3591 17554)	ENST00000333999.3																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(457-459)ctC>ctG		actin-like 7A							118.0	110.0	113.0					9																	111625061		2203	4300	6503	SO:0001819	synonymous_variant	10881					cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton	g.chr9:111625061C>G	BC014610	CCDS6772.1	9q31	2008-02-05			ENSG00000187003	ENSG00000187003			161	protein-coding gene	gene with protein product		604303				10373328	Standard	NM_006687		Approved		uc004bdj.1	Q9Y615	OTTHUMG00000020461	ENST00000333999.3:c.459C>G	9.37:g.111625061C>G							p.L153L	NM_006687.2	NP_006678.1	Q9Y615	ACL7A_HUMAN			1	459	+			153					B2RC83|Q5JSV0	Silent	SNP	ENST00000333999.3	37	c.459C>G	CCDS6772.1																																																																																				0.507	ACTL7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053570.1	NM_006687		6	77	0	0	0	1	0	6	77				
PKD1	5310	broad.mit.edu	37	16	2160360	2160360	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:2160360G>A	ENST00000262304.4	-	15	5016	c.4808C>T	c.(4807-4809)tCc>tTc	p.S1603F	PKD1_ENST00000423118.1_Missense_Mutation_p.S1603F|RP11-304L19.4_ENST00000568795.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1603	PKD 11. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GGTGCCCACGGAGCGGAAGGT	0.612																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(4807-4809)tCc>tTc		polycystic kidney disease 1 (autosomal dominant)							55.0	56.0	56.0					16																	2160360		2196	4298	6494	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2160360G>A	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.4808C>T	16.37:g.2160360G>A	ENSP00000262304:p.Ser1603Phe					PKD1_ENST00000423118.1_Missense_Mutation_p.S1603F	p.S1603F	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			15	5016	-			1603			PKD 11.		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.4808C>T	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	g	22.6	4.305841	0.81247	.	.	ENSG00000008710	ENST00000262304;ENST00000423118	T;T	0.63913	-0.07;-0.07	5.12	5.12	0.69794	PKD/Chitinase domain (1);Polycystin cation channel (1);PKD domain (4);	0.000000	0.85682	D	0.000000	T	0.72534	0.3472	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.73575	-0.3939	10	0.49607	T	0.09	.	18.5786	0.91163	0.0:0.0:1.0:0.0	.	1603;1603	P98161-3;P98161	.;PKD1_HUMAN	F	1603	ENSP00000262304:S1603F;ENSP00000399501:S1603F	ENSP00000262304:S1603F	S	-	2	0	PKD1	2100361	1.000000	0.71417	0.946000	0.38457	0.890000	0.51754	9.300000	0.96151	2.403000	0.81681	0.550000	0.68814	TCC		0.612	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			10	113	0	0	0	1	0	10	113				
CCL8	6355	broad.mit.edu	37	17	32647355	32647355	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr17:32647355G>A	ENST00000394620.1	+	2	610	c.144G>A	c.(142-144)ctG>ctA	p.L48L		NM_005623.2	NP_005614.2	P80075	CCL8_HUMAN	chemokine (C-C motif) ligand 8	48					calcium ion transport (GO:0006816)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|exocytosis (GO:0006887)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of catalytic activity (GO:0043085)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)|heparin binding (GO:0008201)|phospholipase activator activity (GO:0016004)|protein kinase activity (GO:0004672)			NS(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Ovarian(249;0.0443)|Breast(31;0.151)				TCCAGAGGCTGGAGAGCTACA	0.428																																						ENST00000394620.1																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(1)	4						c.(142-144)ctG>ctA		chemokine (C-C motif) ligand 8							86.0	73.0	77.0					17																	32647355		2203	4300	6503	SO:0001819	synonymous_variant	6355				calcium ion transport|cell-cell signaling|chemotaxis|exocytosis|immune response|inflammatory response|response to virus	extracellular space	chemokine activity|heparin binding|signal transducer activity	g.chr17:32647355G>A	X99886	CCDS11280.1	17q11.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000108700	ENSG00000108700		"""Chemokine ligands"", ""Endogenous ligands"""	10635	protein-coding gene	gene with protein product		602283	"""small inducible cytokine subfamily A (Cys-Cys), member 8 (monocyte chemotactic protein 2)"""	SCYA8		9119400	Standard	NM_005623		Approved	MCP-2, HC14	uc002hib.3	P80075	OTTHUMG00000132883	ENST00000394620.1:c.144G>A	17.37:g.32647355G>A							p.L48L	NM_005623.2	NP_005614.2	P80075	CCL8_HUMAN			2	610	+		Ovarian(249;0.0443)|Breast(31;0.151)	48					A0AV77|P78388	Silent	SNP	ENST00000394620.1	37	c.144G>A	CCDS11280.1																																																																																				0.428	CCL8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256376.2	NM_005623		4	57	0	0	0	1	0	4	57				
TOR1AIP1	26092	broad.mit.edu	37	1	179851877	179851877	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:179851877G>A	ENST00000606911.2	+	1	431	c.240G>A	c.(238-240)ccG>ccA	p.P80P	TOR1AIP1_ENST00000435319.4_De_novo_Start_InFrame|RP11-533E19.7_ENST00000610272.1_lincRNA|TOR1AIP1_ENST00000528443.2_Silent_p.P80P|TOR1AIP1_ENST00000271583.3_Silent_p.P80P			Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1	80					positive regulation of ATPase activity (GO:0032781)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						AAAGGTCCCCGGTGGGAAAAC	0.627																																						ENST00000435319.3																			0				breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						c.(238-240)ccG>ccA		torsin A interacting protein 1							50.0	59.0	56.0					1																	179851877		2203	4300	6503	SO:0001819	synonymous_variant	26092					integral to membrane|nuclear inner membrane		g.chr1:179851877G>A		CCDS1335.1, CCDS65737.1	1q24.2	2008-02-05			ENSG00000143337	ENSG00000143337			29456	protein-coding gene	gene with protein product	"""lamina associated polypeptide 1B"""	614512				12061773, 15767459	Standard	NM_015602		Approved	LAP1B, FLJ13142	uc001gnp.2	Q5JTV8	OTTHUMG00000035257	ENST00000606911.2:c.240G>A	1.37:g.179851877G>A						TOR1AIP1_ENST00000271583.3_Silent_p.P80P	p.P80P	NM_001267578.1|NM_015602.3	NP_001254507.1|NP_056417.2	Q5JTV8	TOIP1_HUMAN			1	431	+			80					A8K630|B0QZ57|Q5JTV6|Q8IZ65|Q9H8Y6|Q9HAJ1|Q9NV52|Q9Y3X5	Silent	SNP	ENST00000606911.2	37	c.240G>A	CCDS1335.1																																																																																				0.627	TOR1AIP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000100313.4	NM_015602		49	62	0	0	0	1	0	49	62				
JAK2	3717	broad.mit.edu	37	9	5044417	5044417	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:5044417G>A	ENST00000381652.3	+	5	859	c.365G>A	c.(364-366)cGt>cAt	p.R122H	JAK2_ENST00000544510.1_De_novo_Start_OutOfFrame|JAK2_ENST00000539801.1_Missense_Mutation_p.R122H	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	122	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Interaction with cytokine/interferon/growth hormone receptors. {ECO:0000250}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	TACTTTCCTCGTTGGTATTGC	0.393		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																													ENST00000544510.1		1		Dom	yes		9	9p24	3717	"""T, Mis, O"""	Janus kinase 2			L	"""ETV6, PCM1, BCR"""		"""ALL, AML, MPD,  CML"""	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	0				breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998								Janus kinase 2							145.0	137.0	140.0					9																	5044417		2203	4300	6503	SO:0001583	missense	3717	Polycythemia Vera, Familial	Familial Cancer Database		actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding	g.chr9:5044417G>A		CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.365G>A	9.37:g.5044417G>A	ENSP00000371067:p.Arg122His					JAK2_ENST00000539801.1_Missense_Mutation_p.R122H|JAK2_ENST00000381652.3_Missense_Mutation_p.R122H				O60674	JAK2_HUMAN		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	0	289	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)						O14636|O75297	Translation_Start_Site	SNP	ENST00000381652.3	37		CCDS6457.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.464871	0.26335	.	.	ENSG00000096968	ENST00000539801;ENST00000381652	T;T	0.41758	0.99;0.99	5.35	4.14	0.48551	Band 4.1 domain (1);FERM domain (1);	0.199460	0.53938	N	0.000058	T	0.14614	0.0353	N	0.00707	-1.245	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.04579	-1.0941	10	0.30854	T	0.27	-4.8228	11.2314	0.48914	0.9268:0.0:0.0732:0.0	.	122	O60674	JAK2_HUMAN	H	122	ENSP00000440387:R122H;ENSP00000371067:R122H	ENSP00000371067:R122H	R	+	2	0	JAK2	5034417	1.000000	0.71417	1.000000	0.80357	0.734000	0.41952	5.729000	0.68538	0.952000	0.37798	-0.290000	0.09829	CGT		0.393	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1			23	51	0	0	0	1	0	23	51				
IFNGR2	3460	broad.mit.edu	37	21	34809153	34809153	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr21:34809153C>G	ENST00000290219.6	+	7	1546	c.898C>G	c.(898-900)Cag>Gag	p.Q300E	IFNGR2_ENST00000381995.1_Missense_Mutation_p.Q319E|IFNGR2_ENST00000405436.1_Missense_Mutation_p.Q221E|TMEM50B_ENST00000468874.2_5'Flank	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	300					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	interferon-gamma receptor activity (GO:0004906)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	AGACCCAACTCAGCCCATCTT	0.403																																						ENST00000290219.6																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13						c.(898-900)Cag>Gag		interferon gamma receptor 2 (interferon gamma transducer 1)	Interferon gamma-1b(DB00033)						84.0	80.0	81.0					21																	34809153		2203	4300	6503	SO:0001583	missense	3460				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity	g.chr21:34809153C>G		CCDS33544.1	21q22.1	2014-09-17			ENSG00000159128	ENSG00000159128		"""Interferons"", ""Fibronectin type III domain containing"""	5440	protein-coding gene	gene with protein product		147569		IFNGT1		3136170	Standard	NM_005534		Approved	AF-1	uc002yrp.4	P38484	OTTHUMG00000065188	ENST00000290219.6:c.898C>G	21.37:g.34809153C>G	ENSP00000290219:p.Gln300Glu					IFNGR2_ENST00000405436.1_Missense_Mutation_p.Q221E|IFNGR2_ENST00000381995.1_Missense_Mutation_p.Q319E	p.Q300E	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN			7	1546	+			300					Q9BTL5	Missense_Mutation	SNP	ENST00000290219.6	37	c.898C>G	CCDS33544.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.307533	0.00240	.	.	ENSG00000159128	ENST00000290219;ENST00000381995;ENST00000405436	T;T;T	0.69040	0.78;0.75;-0.37	4.79	2.81	0.32909	.	0.760977	0.12335	N	0.478043	T	0.56124	0.1964	L	0.50333	1.59	0.27708	N	0.94555	B;B	0.30824	0.158;0.296	B;B	0.19946	0.018;0.027	T	0.46721	-0.9171	10	0.30078	T	0.28	-14.2887	10.8699	0.46877	0.0:0.6281:0.3719:0.0	.	319;300	E7EUY1;P38484	.;INGR2_HUMAN	E	300;319;221	ENSP00000290219:Q300E;ENSP00000371425:Q319E;ENSP00000385044:Q221E	ENSP00000290219:Q300E	Q	+	1	0	IFNGR2	33731023	0.037000	0.19845	0.101000	0.21167	0.148000	0.21650	0.607000	0.24209	1.360000	0.45960	-0.300000	0.09419	CAG		0.403	IFNGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139916.1			17	50	0	0	0	1	0	17	50				
HIVEP3	59269	broad.mit.edu	37	1	42045958	42045958	+	Nonsense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:42045958G>C	ENST00000372583.1	-	4	5396	c.4511C>G	c.(4510-4512)tCa>tGa	p.S1504*	HIVEP3_ENST00000372584.1_Nonsense_Mutation_p.S1504*|HIVEP3_ENST00000429157.2_Nonsense_Mutation_p.S1504*|HIVEP3_ENST00000247584.5_Nonsense_Mutation_p.S1504*|HIVEP3_ENST00000460604.1_5'Flank	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1504					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S1504L(1)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AGATGGATCTGAGGACAGGCT	0.562																																						ENST00000372584.1																			1	Substitution - Missense(1)	p.S1504L(1)	ovary(1)	NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(4510-4512)tCa>tGa		human immunodeficiency virus type I enhancer binding protein 3							95.0	105.0	102.0					1																	42045958		2203	4300	6503	SO:0001587	stop_gained	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42045958G>C	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.4511C>G	1.37:g.42045958G>C	ENSP00000361664:p.Ser1504*					HIVEP3_ENST00000372583.1_Nonsense_Mutation_p.S1504*|HIVEP3_ENST00000429157.2_Nonsense_Mutation_p.S1504*|HIVEP3_ENST00000247584.5_Nonsense_Mutation_p.S1504*	p.S1504*	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			3	5525	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	1504					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Nonsense_Mutation	SNP	ENST00000372583.1	37	c.4511C>G	CCDS463.1	.	.	.	.	.	.	.	.	.	.	G	48	14.000697	0.99774	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	.	.	.	5.37	3.37	0.38596	.	0.709812	0.12291	N	0.482033	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-0.3029	4.3533	0.11165	0.2304:0.3408:0.4287:0.0	.	.	.	.	X	1504	.	ENSP00000247584:S1504X	S	-	2	0	HIVEP3	41818545	0.029000	0.19370	0.256000	0.24389	0.440000	0.31957	1.329000	0.33770	1.504000	0.48704	0.655000	0.94253	TCA		0.562	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		4	77	0	0	0	1	0	4	77				
VAV2	7410	broad.mit.edu	37	9	136643922	136643922	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:136643922C>G	ENST00000371850.3	-	22	1883	c.1852G>C	c.(1852-1854)Gag>Cag	p.E618Q	VAV2_ENST00000406606.3_Missense_Mutation_p.E608Q|VAV2_ENST00000371851.1_Missense_Mutation_p.E608Q	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	618	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		CTCAGCAGCTCAAGCACGTCG	0.672																																						ENST00000371851.1																			0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35						c.(1822-1824)Gag>Cag		vav 2 guanine nucleotide exchange factor							59.0	52.0	54.0					9																	136643922		2203	4300	6503	SO:0001583	missense	7410				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity	g.chr9:136643922C>G		CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12658	protein-coding gene	gene with protein product		600428	"""vav 2 oncogene"""			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.1852G>C	9.37:g.136643922C>G	ENSP00000360916:p.Glu618Gln					VAV2_ENST00000371850.3_Missense_Mutation_p.E618Q|VAV2_ENST00000406606.3_Missense_Mutation_p.E608Q	p.E608Q			P52735	VAV2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)	20	2147	-			618			SH3 1.		A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Missense_Mutation	SNP	ENST00000371850.3	37	c.1822G>C	CCDS48053.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.135044	0.77662	.	.	ENSG00000160293	ENST00000371850;ENST00000371851;ENST00000406606;ENST00000325440	T;T;T	0.08193	3.12;3.12;3.12	4.8	4.8	0.61643	Src homology-3 domain (3);Variant SH3 (1);	0.000000	0.85682	D	0.000000	T	0.22936	0.0554	L	0.49126	1.545	0.80722	D	1	D;P;P	0.59357	0.985;0.911;0.956	D;P;P	0.64595	0.927;0.739;0.896	T	0.00538	-1.1682	10	0.66056	D	0.02	.	16.8547	0.86002	0.0:1.0:0.0:0.0	.	608;618;608	P52735-2;P52735;P52735-3	.;VAV2_HUMAN;.	Q	618;608;608;608	ENSP00000360916:E618Q;ENSP00000360917:E608Q;ENSP00000385362:E608Q	ENSP00000317258:E608Q	E	-	1	0	VAV2	135633743	1.000000	0.71417	0.974000	0.42286	0.576000	0.36127	7.084000	0.76866	2.214000	0.71695	0.561000	0.74099	GAG		0.672	VAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054939.1			30	30	0	0	0	1	0	30	30				
BAG6	7917	broad.mit.edu	37	6	31612823	31612823	+	Silent	SNP	C	C	T	rs572580953		TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:31612823C>T	ENST00000375964.6	-	10	1600	c.1287G>A	c.(1285-1287)ccG>ccA	p.P429P	BAG6_ENST00000470875.1_5'Flank|BAG6_ENST00000211379.5_Silent_p.P423P|BAG6_ENST00000439687.2_Silent_p.P423P|BAG6_ENST00000375976.4_Silent_p.P423P|BAG6_ENST00000362049.6_Silent_p.P423P|BAG6_ENST00000404765.2_Silent_p.P423P	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	429	4 X 29 AA approximate repeats.|Pro-rich.				brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CTGGACCTGGCGGGGGAGCCC	0.632													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14556	0.0		0.0	False		,,,				2504	0.0					ENST00000404765.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						c.(1267-1269)ccG>ccA		BCL2-associated athanogene 6							67.0	85.0	79.0					6																	31612823		1507	2706	4213	SO:0001819	synonymous_variant	7917				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	g.chr6:31612823C>T	M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"""HLA-B associated transcript 3"""	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.1287G>A	6.37:g.31612823C>T						BAG6_ENST00000362049.6_Silent_p.P423P|BAG6_ENST00000375964.6_Silent_p.P429P|BAG6_ENST00000439687.2_Silent_p.P423P|BAG6_ENST00000375976.4_Silent_p.P423P|BAG6_ENST00000211379.5_Silent_p.P423P	p.P423P			P46379	BAG6_HUMAN			10	1558	-			429			4 X 29 AA approximate repeats.|Pro-rich.		A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Silent	SNP	ENST00000375964.6	37	c.1269G>A	CCDS47403.1	.	.	.	.	.	.	.	.	.	.	c	0.015	-1.541362	0.00934	.	.	ENSG00000204463	ENST00000453833	.	.	.	5.19	-10.4	0.00318	.	.	.	.	.	T	0.16471	0.0396	.	.	.	0.41315	D	0.987138	.	.	.	.	.	.	T	0.64901	-0.6298	4	.	.	.	.	2.898	0.05697	0.2978:0.0711:0.3792:0.2519	.	.	.	.	T	84	.	.	A	-	1	0	BAG6	31720802	0.000000	0.05858	0.000000	0.03702	0.375000	0.29983	-4.361000	0.00246	-6.317000	0.00005	-2.948000	0.00085	GCC		0.632	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_080703		69	101	0	0	0	1	0	69	101				
PLCE1	51196	broad.mit.edu	37	10	96081712	96081712	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr10:96081712G>A	ENST00000371380.3	+	29	6632	c.6397G>A	c.(6397-6399)Gag>Aag	p.E2133K	PLCE1_ENST00000371385.3_Missense_Mutation_p.E1825K|PLCE1_ENST00000260766.3_Missense_Mutation_p.E2133K|PLCE1_ENST00000371375.1_Missense_Mutation_p.E1825K|NOC3L_ENST00000543788.1_Intron			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	2133					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CTTGAGCTCAGAGGAGGAGAG	0.408																																						ENST00000260766.3																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(6397-6399)Gag>Aag		phospholipase C, epsilon 1							123.0	121.0	122.0					10																	96081712		1972	4159	6131	SO:0001583	missense	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:96081712G>A		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.6397G>A	10.37:g.96081712G>A	ENSP00000360431:p.Glu2133Lys					PLCE1_ENST00000371375.1_Missense_Mutation_p.E1825K|PLCE1_ENST00000371385.3_Missense_Mutation_p.E1825K|PLCE1_ENST00000371380.2_Missense_Mutation_p.E2133K|NOC3L_ENST00000543788.1_Intron	p.E2133K	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN			30	7031	+		Colorectal(252;0.0458)	2133					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.6397G>A	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.895846	0.91962	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.24723	1.84;1.84;1.85;1.85	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.31136	0.0787	L	0.44542	1.39	0.80722	D	1	P;B;P	0.35107	0.484;0.273;0.484	B;B;B	0.39068	0.289;0.246;0.289	T	0.03212	-1.1060	10	0.59425	D	0.04	.	19.7299	0.96177	0.0:0.0:1.0:0.0	.	2117;1825;2133	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	K	2133;2133;1825;1825	ENSP00000260766:E2133K;ENSP00000360431:E2133K;ENSP00000360438:E1825K;ENSP00000360426:E1825K	ENSP00000260766:E2133K	E	+	1	0	PLCE1	96071702	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.341000	0.97041	2.759000	0.94783	0.650000	0.86243	GAG		0.408	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		26	41	0	0	0	1	0	26	41				
DDX42	11325	broad.mit.edu	37	17	61892949	61892949	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr17:61892949C>T	ENST00000578681.1	+	17	2530	c.1929C>T	c.(1927-1929)ttC>ttT	p.F643F	DDX42_ENST00000389924.2_Silent_p.F643F|DDX42_ENST00000583590.1_Silent_p.F643F|DDX42_ENST00000359353.5_Silent_p.F524F|DDX42_ENST00000457800.2_Silent_p.F643F	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	643					protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						AATCTCGATTCAAAGGAGGGA	0.483																																						ENST00000578681.1																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						c.(1927-1929)ttC>ttT		DEAD (Asp-Glu-Ala-Asp) box helicase 42							112.0	108.0	109.0					17																	61892949		2203	4300	6503	SO:0001819	synonymous_variant	11325				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr17:61892949C>T	BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"""DEAD-boxes"""	18676	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 8"""	613369	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"""			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3		ENST00000578681.1:c.1929C>T	17.37:g.61892949C>T						DDX42_ENST00000359353.5_Silent_p.F524F|DDX42_ENST00000457800.2_Silent_p.F643F|DDX42_ENST00000389924.2_Silent_p.F643F|DDX42_ENST00000583590.1_Silent_p.F643F	p.F643F	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN			17	2530	+			643					A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Silent	SNP	ENST00000578681.1	37	c.1929C>T	CCDS32704.1																																																																																				0.483	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372		53	123	0	0	0	1	0	53	123				
TTN	7273	broad.mit.edu	37	2	179451488	179451488	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:179451488C>G	ENST00000591111.1	-	258	59441	c.59217G>C	c.(59215-59217)aaG>aaC	p.K19739N	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K12315N|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K12440N|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K21380N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K12507N|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K18812N			Q8WZ42	TITIN_HUMAN	titin	19739	Fibronectin type-III 43. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGCACTGTTCTTGGTCATTT	0.448																																						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.(64138-64140)aaG>aaC		titin							227.0	225.0	226.0					2																	179451488		1940	4146	6086	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179451488C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.59217G>C	2.37:g.179451488C>G	ENSP00000465570:p.Lys19739Asn					TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K12507N|TTN_ENST00000359218.5_Missense_Mutation_p.K12440N|TTN_ENST00000342992.6_Missense_Mutation_p.K18812N|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K19739N|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K12315N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA	p.K21380N	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)		308	64364	-			19739			Ig-like 113.		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.64140G>C		.	.	.	.	.	.	.	.	.	.	C	18.37	3.608233	0.66558	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	6.06	5.18	0.71444	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.67813	0.2933	L	0.52905	1.665	0.50632	D	0.999889	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.68907	-0.5285	9	0.87932	D	0	.	14.7878	0.69816	0.0:0.9316:0.0:0.0684	.	12315;12440;12507;19739	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	18812;12315;12507;12440;12313	ENSP00000343764:K18812N;ENSP00000434586:K12315N;ENSP00000340554:K12507N;ENSP00000352154:K12440N	ENSP00000340554:K12507N	K	-	3	2	TTN	179159734	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.014000	0.29950	2.879000	0.98667	0.650000	0.86243	AAG		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		42	106	0	0	0	1	0	42	106				
PPP1R12A	4659	broad.mit.edu	37	12	80182559	80182559	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:80182559C>T	ENST00000450142.2	-	21	2937	c.2671G>A	c.(2671-2673)Gaa>Aaa	p.E891K	PPP1R12A_ENST00000546369.1_Missense_Mutation_p.E804K|PPP1R12A_ENST00000437004.2_Missense_Mutation_p.E891K|PPP1R12A_ENST00000261207.5_Missense_Mutation_p.E891K|PPP1R12A_ENST00000550107.1_Missense_Mutation_p.E835K	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	891					centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)|regulation of nucleocytoplasmic transport (GO:0046822)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|PTW/PP1 phosphatase complex (GO:0072357)	14-3-3 protein binding (GO:0071889)|enzyme inhibitor activity (GO:0004857)|phosphatase regulator activity (GO:0019208)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						GAACTGGTTTCATATCTTCAA	0.343																																						ENST00000450142.2																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						c.(2671-2673)Gaa>Aaa		protein phosphatase 1, regulatory subunit 12A							35.0	33.0	33.0					12																	80182559		1808	4077	5885	SO:0001583	missense	4659					contractile fiber	protein binding|signal transducer activity	g.chr12:80182559C>T	D87930	CCDS44947.1, CCDS44948.1, CCDS58259.1, CCDS58260.1	12q15-q21	2013-01-18	2011-10-04	2001-08-10	ENSG00000058272	ENSG00000058272		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7618	protein-coding gene	gene with protein product	"""myosin phosphatase-targeting subunit 1"", ""myosin binding subunit"""	602021	"""protein phosphatase 1, regulatory (inhibitor) subunit 12A"""	MYPT1		9286714	Standard	NM_002480		Approved	MBS, M130	uc001syz.3	O14974	OTTHUMG00000170100	ENST00000450142.2:c.2671G>A	12.37:g.80182559C>T	ENSP00000389168:p.Glu891Lys					PPP1R12A_ENST00000261207.5_Missense_Mutation_p.E891K|PPP1R12A_ENST00000546369.1_Missense_Mutation_p.E804K|PPP1R12A_ENST00000437004.2_Missense_Mutation_p.E891K|PPP1R12A_ENST00000550107.1_Missense_Mutation_p.E835K	p.E891K	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN			21	2937	-			891					B4DZ09|F8VWB4|Q2NKL4|Q569H0|Q86WU3|Q8NFR6|Q9BYH0	Missense_Mutation	SNP	ENST00000450142.2	37	c.2671G>A	CCDS44947.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.61|16.61	3.172139|3.172139	0.57584|0.57584	.|.	.|.	ENSG00000058272|ENSG00000058272	ENST00000261207;ENST00000546189;ENST00000360825;ENST00000341878;ENST00000312727;ENST00000450142;ENST00000437004;ENST00000546369;ENST00000550107|ENST00000550299	T;T;T;T;T|.	0.37411|.	1.23;1.23;1.28;1.27;1.2|.	5.94|5.94	5.94|5.94	0.96194|0.96194	.|.	0.472364|.	0.26911|.	N|.	0.021869|.	T|T	0.36991|0.36991	0.0987|0.0987	N|N	0.14661|0.14661	0.345|0.345	0.32147|0.32147	N|N	0.584774|0.584774	B;B;B|.	0.19817|.	0.039;0.003;0.023|.	B;B;B|.	0.18561|.	0.022;0.006;0.01|.	T|T	0.42531|0.42531	-0.9446|-0.9446	10|5	0.31617|.	T|.	0.26|.	.|.	13.5527|13.5527	0.61740|0.61740	0.0:0.9293:0.0:0.0707|0.0:0.9293:0.0:0.0707	.|.	891;835;891|.	O14974-2;O14974-3;O14974|.	.;.;MYPT1_HUMAN|.	K|I	891;891;891;835;832;891;891;804;835|73	ENSP00000261207:E891K;ENSP00000389168:E891K;ENSP00000416769:E891K;ENSP00000449514:E804K;ENSP00000446855:E835K|.	ENSP00000261207:E891K|.	E|M	-|-	1|3	0|0	PPP1R12A|PPP1R12A	78706690|78706690	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.935000|0.935000	0.57460|0.57460	4.348000|4.348000	0.59379|0.59379	2.820000|2.820000	0.97059|0.97059	0.650000|0.650000	0.86243|0.86243	GAA|ATG		0.343	PPP1R12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407254.2	NM_002480		5	15	0	0	0	1	0	5	15				
KIF22	3835	broad.mit.edu	37	16	29811305	29811305	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:29811305G>A	ENST00000160827.4	+	8	1256	c.1216G>A	c.(1216-1218)Gag>Aag	p.E406K	KIF22_ENST00000561482.1_Missense_Mutation_p.E338K|KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000400751.5_Missense_Mutation_p.E338K|KIF22_ENST00000569382.2_Missense_Mutation_p.E338K|KIF22_ENST00000563263.1_3'UTR	NM_001256269.1|NM_007317.2	NP_001243198.1|NP_015556.1	Q14807	KIF22_HUMAN	kinesin family member 22	406					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA repair (GO:0006281)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						CCGAGGCCCTGAGGAAGAGGA	0.582																																						ENST00000561482.1																			0				endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						c.(1012-1014)Gag>Aag		kinesin family member 22							65.0	60.0	62.0					16																	29811305		2197	4300	6497	SO:0001583	missense	3835				blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding	g.chr16:29811305G>A	D38751	CCDS10653.1, CCDS58444.1	16p11.2	2008-03-03	2003-01-09	2003-01-10	ENSG00000079616	ENSG00000079616		"""Kinesins"""	6391	protein-coding gene	gene with protein product		603213	"""kinesin-like 4"""	KNSL4		8599929, 11416179	Standard	NM_007317		Approved	Kid, OBP-1, OBP-2	uc002dts.4	Q14807	OTTHUMG00000097771	ENST00000160827.4:c.1216G>A	16.37:g.29811305G>A	ENSP00000160827:p.Glu406Lys					KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000400751.5_Missense_Mutation_p.E338K|KIF22_ENST00000563263.1_3'UTR|KIF22_ENST00000569382.2_Missense_Mutation_p.E338K|KIF22_ENST00000160827.4_Missense_Mutation_p.E406K	p.E338K	NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN			8	1649	+			406					B2R5M0|B7Z265|O60845|O94814|Q53F58|Q9BT46	Missense_Mutation	SNP	ENST00000160827.4	37	c.1012G>A	CCDS10653.1	.	.	.	.	.	.	.	.	.	.	G	10.29	1.309495	0.23821	.	.	ENSG00000079616	ENST00000160827;ENST00000400751	T;T	0.73681	-0.7;-0.77	5.41	5.41	0.78517	.	.	.	.	.	T	0.57607	0.2065	N	0.14661	0.345	0.80722	D	1	B;B	0.20887	0.001;0.049	B;B	0.22386	0.001;0.039	T	0.52786	-0.8529	9	0.14252	T	0.57	.	14.5485	0.68050	0.0:0.0:1.0:0.0	.	338;406	B7Z265;Q14807	.;KIF22_HUMAN	K	406;338	ENSP00000160827:E406K;ENSP00000383562:E338K	ENSP00000160827:E406K	E	+	1	0	KIF22	29718806	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	3.519000	0.53458	2.813000	0.96785	0.650000	0.86243	GAG		0.582	KIF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215012.2			7	90	0	0	0	1	0	7	90				
TBX21	30009	broad.mit.edu	37	17	45820115	45820115	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr17:45820115G>A	ENST00000177694.1	+	2	842	c.631G>A	c.(631-633)Gag>Aag	p.E211K		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	211					cellular response to organic substance (GO:0071310)|lymphocyte migration (GO:0072676)|multicellular organismal development (GO:0007275)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	neuronal cell body (GO:0043025)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						TGGAAAGGCCGAGGGCAGCAT	0.667																																						ENST00000177694.1																			0				NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(631-633)Gag>Aag		T-box 21							28.0	26.0	27.0					17																	45820115		2201	4297	6498	SO:0001583	missense	30009				lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr17:45820115G>A	AF093098	CCDS11514.1	17q21.2	2008-06-23				ENSG00000073861		"""T-boxes"""	11599	protein-coding gene	gene with protein product		604895					Standard	NM_013351		Approved	TBLYM, T-bet	uc002ilv.1	Q9UL17		ENST00000177694.1:c.631G>A	17.37:g.45820115G>A	ENSP00000177694:p.Glu211Lys						p.E211K	NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN			2	842	+			211						Missense_Mutation	SNP	ENST00000177694.1	37	c.631G>A	CCDS11514.1	.	.	.	.	.	.	.	.	.	.	G	36	5.772272	0.96922	.	.	ENSG00000073861	ENST00000177694	D	0.90444	-2.67	5.33	5.33	0.75918	p53-like transcription factor, DNA-binding (1);	0.121633	0.53938	D	0.000046	D	0.96244	0.8775	M	0.90309	3.105	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.96799	0.9588	10	0.87932	D	0	.	18.1534	0.89684	0.0:0.0:1.0:0.0	.	211	Q9UL17	TBX21_HUMAN	K	211	ENSP00000177694:E211K	ENSP00000177694:E211K	E	+	1	0	TBX21	43175114	1.000000	0.71417	0.797000	0.32132	0.977000	0.68977	9.767000	0.98960	2.656000	0.90262	0.561000	0.74099	GAG		0.667	TBX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441365.1	NM_013351		7	6	0	0	0	1	0	7	6				
SRRM2	23524	broad.mit.edu	37	16	2814346	2814346	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:2814346G>A	ENST00000301740.8	+	11	4366	c.3817G>A	c.(3817-3819)Gaa>Aaa	p.E1273K		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1273	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						ATCATCTCCTGAAGTAGAAGA	0.463																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(3817-3819)Gaa>Aaa		serine/arginine repetitive matrix 2							117.0	124.0	122.0					16																	2814346		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2814346G>A	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.3817G>A	16.37:g.2814346G>A	ENSP00000301740:p.Glu1273Lys						p.E1273K	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			11	4366	+			1273			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.3817G>A	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.768971	0.49680	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.36520	1.25	6.17	6.17	0.99709	.	0.083760	0.51477	D	0.000089	T	0.44265	0.1285	L	0.47716	1.5	0.39314	D	0.965138	D	0.62365	0.991	P	0.51266	0.664	T	0.08994	-1.0695	10	0.27082	T	0.32	-7.3886	18.3732	0.90420	0.0:0.0:1.0:0.0	.	1273	Q9UQ35	SRRM2_HUMAN	K	1273;1273;525	ENSP00000301740:E1273K	ENSP00000301740:E1273K	E	+	1	0	SRRM2	2754347	0.916000	0.31088	0.998000	0.56505	0.962000	0.63368	3.611000	0.54132	2.941000	0.99782	0.655000	0.94253	GAA		0.463	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			11	233	0	0	0	1	0	11	233				
CNR2	1269	broad.mit.edu	37	1	24201678	24201678	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:24201678G>A	ENST00000374472.4	-	2	591	c.430C>T	c.(430-432)Ctg>Ttg	p.L144L	CNR2_ENST00000536471.1_Silent_p.L144L	NM_001841.2	NP_001832.1	P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	144					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of action potential (GO:0045759)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|response to amphetamine (GO:0001975)|response to lipopolysaccharide (GO:0032496)|sensory perception of pain (GO:0019233)	dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Dronabinol(DB00470)|Nabilone(DB00486)	CGGGTGAGCAGAGCTTTGTAG	0.592																																						ENST00000536471.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26						c.(430-432)Ctg>Ttg		cannabinoid receptor 2 (macrophage)	Nabilone(DB00486)						99.0	93.0	95.0					1																	24201678		2203	4300	6503	SO:0001819	synonymous_variant	1269				behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity	g.chr1:24201678G>A	X74328	CCDS245.1	1p	2012-08-08			ENSG00000188822	ENSG00000188822		"""GPCR / Class A : Cannabinoid receptors"""	2160	protein-coding gene	gene with protein product		605051					Standard	NM_001841		Approved	CB2	uc001bif.3	P34972	OTTHUMG00000013892	ENST00000374472.4:c.430C>T	1.37:g.24201678G>A						CNR2_ENST00000374472.4_Silent_p.L144L	p.L144L			P34972	CNR2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	3	688	-		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)	144					C6ES44|Q4VBK8|Q5JRH7|Q6B0G7|Q6NSY0	Silent	SNP	ENST00000374472.4	37	c.430C>T	CCDS245.1																																																																																				0.592	CNR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038949.1	NM_001841		12	151	0	0	0	1	0	12	151				
ANKRD33	341405	broad.mit.edu	37	12	52282038	52282038	+	5'UTR	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:52282038G>A	ENST00000340970.4	+	0	38				ANKRD33_ENST00000538991.1_5'UTR|ANKRD33_ENST00000301190.6_Missense_Mutation_p.G23E			Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|skeletal muscle cell differentiation (GO:0035914)	cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		GAGGCATTCGGAGACCCAGTG	0.572																																						ENST00000301190.6																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22						c.(67-69)gGa>gAa		ankyrin repeat domain 33							111.0	102.0	105.0					12																	52282038		2203	4300	6503	SO:0001623	5_prime_UTR_variant	341405							g.chr12:52282038G>A		CCDS8815.1, CCDS44892.1	12q13.13	2013-01-10	2005-01-07	2005-01-07		ENSG00000167612		"""Ankyrin repeat domain containing"""	13788	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 7"""	C12orf7		20026326	Standard	NM_182608		Approved	DKFZp686O1689, PANKY	uc001rzd.3	Q7Z3H0	OTTHUMG00000169506	ENST00000340970.4:c.-334G>A	12.37:g.52282038G>A						ANKRD33_ENST00000538991.1_5'UTR|ANKRD33_ENST00000340970.4_5'UTR	p.G23E	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0969)	1	295	+			0					Q0VAA7|Q5K619|Q5K621|Q5K622|Q5K623|Q5K624|Q6ZUN0	Missense_Mutation	SNP	ENST00000340970.4	37	c.68G>A	CCDS44892.1	.	.	.	.	.	.	.	.	.	.	G	11.43	1.637581	0.29157	.	.	ENSG00000167612	ENST00000301190	T	0.19105	2.17	3.12	1.83	0.25207	.	5.283370	0.01486	N	0.016860	T	0.11110	0.0271	N	0.14661	0.345	0.20489	N	0.999896	P;B	0.38677	0.642;0.218	B;B	0.28139	0.086;0.04	T	0.18023	-1.0350	10	0.33141	T	0.24	.	4.7326	0.12972	0.2524:0.0:0.7476:0.0	.	23;23	F8VTQ6;Q7Z3H0-2	.;.	E	23	ENSP00000301190:G23E	ENSP00000301190:G23E	G	+	2	0	ANKRD33	50568305	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.215000	0.09279	0.581000	0.29539	0.462000	0.41574	GGA		0.572	ANKRD33-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404515.1	NM_182608		59	113	0	0	0	1	0	59	113				
RPSAP58	388524	broad.mit.edu	37	19	24010101	24010101	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:24010101C>G	ENST00000496398.1	+	4	561	c.138C>G	c.(136-138)atC>atG	p.I46M	RP11-255H23.2_ENST00000471224.1_RNA|RPSAP58_ENST00000354585.4_Missense_Mutation_p.I46M|RP11-255H23.4_ENST00000599944.1_lincRNA					ribosomal protein SA pseudogene 58											endometrium(1)|kidney(5)|lung(2)|prostate(1)|urinary_tract(1)	10						GTGATGGCATCTATATCATAA	0.448																																						ENST00000496398.1																			0				endometrium(1)|kidney(5)|lung(2)|prostate(1)|urinary_tract(1)	10						c.(136-138)atC>atG																																						SO:0001583	missense	388524							g.chr19:24010101C>G			19p12	2010-06-16			ENSG00000205246	ENSG00000205246			36809	pseudogene	pseudogene						19123937	Standard	NR_003662		Approved		uc002nrn.3		OTTHUMG00000158122	ENST00000496398.1:c.138C>G	19.37:g.24010101C>G	ENSP00000417240:p.Ile46Met					RP11-255H23.2_ENST00000471224.1_RNA|RP11-255H23.4_ENST00000599944.1_lincRNA|RPSAP58_ENST00000354585.4_Missense_Mutation_p.I46M	p.I46M							4	561	+									Missense_Mutation	SNP	ENST00000496398.1	37	c.138C>G		.	.	.	.	.	.	.	.	.	.	.	11.37	1.620134	0.28801	.	.	ENSG00000205246	ENST00000486528;ENST00000496398;ENST00000354585	T;T;T	0.25912	1.77;1.77;1.77	2.75	2.75	0.32379	.	0.081810	0.48286	U	0.000182	T	0.35770	0.0943	.	.	.	0.30202	N	0.798525	B	0.30973	0.302	P	0.46172	0.506	T	0.44742	-0.9308	9	0.66056	D	0.02	.	11.3955	0.49838	0.0:1.0:0.0:0.0	.	46	A6NE09	.	M	46	ENSP00000420173:I46M;ENSP00000417240:I46M;ENSP00000346598:I46M	ENSP00000346598:I46M	I	+	3	3	RPSAP58	23801941	0.964000	0.33143	1.000000	0.80357	0.987000	0.75469	-0.307000	0.08167	1.596000	0.50062	0.627000	0.83407	ATC		0.448	RPSAP58-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000350238.1	NR_003662		8	19	0	0	0	1	0	8	19				
BRWD1	54014	broad.mit.edu	37	21	40571183	40571183	+	Nonsense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr21:40571183G>C	ENST00000333229.2	-	40	5486	c.5159C>G	c.(5158-5160)tCa>tGa	p.S1720*	BRWD1_ENST00000380800.3_Nonsense_Mutation_p.S1720*|BRWD1_ENST00000342449.3_Nonsense_Mutation_p.S1720*	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1720					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TTCTGACTCTGAGTCTCTGTT	0.398																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000342449.3																			0				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58						c.(5158-5160)tCa>tGa		bromodomain and WD repeat domain containing 1							99.0	91.0	94.0					21																	40571183		2203	4300	6503	SO:0001587	stop_gained	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40571183G>C	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.5159C>G	21.37:g.40571183G>C	ENSP00000330753:p.Ser1720*					BRWD1_ENST00000380800.3_Nonsense_Mutation_p.S1720*|BRWD1_ENST00000333229.2_Nonsense_Mutation_p.S1720*	p.S1720*	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN			40	5237	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	1720					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Nonsense_Mutation	SNP	ENST00000333229.2	37	c.5159C>G	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	G	45	11.286856	0.99542	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	.	.	.	5.51	5.51	0.81932	.	0.000000	0.50627	D	0.000103	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-8.4131	17.6316	0.88109	0.0:0.0:1.0:0.0	.	.	.	.	X	1720	.	ENSP00000330753:S1720X	S	-	2	0	BRWD1	39493053	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	6.275000	0.72594	2.593000	0.87608	0.655000	0.94253	TCA		0.398	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		38	49	0	0	0	1	0	38	49				
NRP1	8829	broad.mit.edu	37	10	33510682	33510682	+	Missense_Mutation	SNP	G	G	A	rs369312020		TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr10:33510682G>A	ENST00000265371.4	-	9	1772	c.1247C>T	c.(1246-1248)tCt>tTt	p.S416F	NRP1_ENST00000374823.5_Missense_Mutation_p.S416F|NRP1_ENST00000432372.2_Missense_Mutation_p.S416F|NRP1_ENST00000395995.1_Missense_Mutation_p.S416F|NRP1_ENST00000374875.1_Missense_Mutation_p.S235F|NRP1_ENST00000374821.5_Missense_Mutation_p.S416F|NRP1_ENST00000374816.3_Missense_Mutation_p.S416F|NRP1_ENST00000374867.2_Missense_Mutation_p.S416F|NRP1_ENST00000374822.4_Missense_Mutation_p.S416F			O14786	NRP1_HUMAN	neuropilin 1	416	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	AAATCTCATAGATATGCCAGT	0.418																																					Melanoma(104;886 1489 44640 45944 51153)	ENST00000265371.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48						c.(1246-1248)tCt>tTt		neuropilin 1	Palifermin(DB00039)|Pegaptanib(DB04895)	G	PHE/SER,PHE/SER,PHE/SER	0,4406		0,0,2203	165.0	158.0	161.0		1247,1247,1247	5.9	0.2	10		161	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	NRP1	NM_001024628.2,NM_001024629.2,NM_003873.5	155,155,155	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	416/645,416/610,416/924	33510682	1,13005	2203	4300	6503	SO:0001583	missense	8829				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity	g.chr10:33510682G>A	AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"""CD molecules"""	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.1247C>T	10.37:g.33510682G>A	ENSP00000265371:p.Ser416Phe					NRP1_ENST00000395995.1_Missense_Mutation_p.S416F|NRP1_ENST00000374816.3_Missense_Mutation_p.S416F|NRP1_ENST00000374821.5_Missense_Mutation_p.S416F|NRP1_ENST00000374822.4_Missense_Mutation_p.S416F|NRP1_ENST00000374823.5_Missense_Mutation_p.S416F|NRP1_ENST00000374867.2_Missense_Mutation_p.S416F	p.S416F			O14786	NRP1_HUMAN			9	1772	-			416			F5/8 type C 1.		B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Missense_Mutation	SNP	ENST00000265371.4	37	c.1247C>T	CCDS7177.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.143156	0.77888	0.0	1.16E-4	ENSG00000099250	ENST00000265371;ENST00000374875;ENST00000374867;ENST00000395995;ENST00000374822;ENST00000374821;ENST00000374823;ENST00000374816;ENST00000432372	D;D;D;D;D;D;D;D;D	0.98234	-4.81;-4.81;-4.81;-4.81;-4.81;-4.81;-4.81;-4.81;-4.81	5.87	5.87	0.94306	Coagulation factor 5/8 C-terminal type domain (4);Galactose-binding domain-like (1);	0.049217	0.85682	D	0.000000	D	0.98909	0.9630	M	0.77486	2.375	0.58432	D	0.999998	D;D;D;D;D;D;D;P;D	0.71674	0.986;0.993;0.993;0.993;0.996;0.998;0.986;0.941;0.971	D;D;D;D;D;D;D;P;P	0.69142	0.962;0.926;0.926;0.943;0.921;0.95;0.962;0.902;0.681	D	0.99675	1.0997	10	0.87932	D	0	-24.0417	20.5827	0.99408	0.0:0.0:1.0:0.0	.	416;416;416;416;416;416;416;235;416	A8K9V7;E7EX60;Q5T7F0;Q5T7F1;O14786-2;Q68DN3;O14786;Q5JWQ6;E9PEP6	.;.;.;.;.;.;NRP1_HUMAN;.;.	F	416;235;416;416;416;416;416;416;89	ENSP00000265371:S416F;ENSP00000364009:S235F;ENSP00000364001:S416F;ENSP00000379317:S416F;ENSP00000363955:S416F;ENSP00000363954:S416F;ENSP00000363956:S416F;ENSP00000363949:S416F;ENSP00000408911:S89F	ENSP00000265371:S416F	S	-	2	0	NRP1	33550688	1.000000	0.71417	0.169000	0.22859	0.799000	0.45148	7.506000	0.81665	2.941000	0.99782	0.655000	0.94253	TCT		0.418	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051203.2			33	68	0	0	0	1	0	33	68				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			650368							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			4	71	0	0	0	1	0	4	71				
CCDC85A	114800	broad.mit.edu	37	2	56419832	56419832	+	Missense_Mutation	SNP	A	A	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:56419832A>T	ENST00000407595.2	+	2	999	c.497A>T	c.(496-498)aAg>aTg	p.K166M	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	166										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ATGGAGCTCAAGGAGCTCTGT	0.587																																						ENST00000407595.2																			0				breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38						c.(496-498)aAg>aTg		coiled-coil domain containing 85A							49.0	56.0	54.0					2																	56419832		2099	4223	6322	SO:0001583	missense	114800							g.chr2:56419832A>T	AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.497A>T	2.37:g.56419832A>T	ENSP00000384040:p.Lys166Met					RP11-482H16.1_ENST00000607540.1_RNA	p.K166M	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		2	999	+			166						Missense_Mutation	SNP	ENST00000407595.2	37	c.497A>T	CCDS46290.1	.	.	.	.	.	.	.	.	.	.	A	18.57	3.652193	0.67472	.	.	ENSG00000055813	ENST00000407595	.	.	.	5.18	5.18	0.71444	.	0.096081	0.64402	D	0.000001	T	0.79353	0.4431	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82532	-0.0410	9	0.87932	D	0	-16.1224	15.0278	0.71682	1.0:0.0:0.0:0.0	.	166	Q96PX6	CC85A_HUMAN	M	166	.	ENSP00000384040:K166M	K	+	2	0	CCDC85A	56273336	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.857000	0.75455	1.947000	0.56498	0.533000	0.62120	AAG		0.587	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1			36	69	0	0	0	1	0	36	69				
ERBB3	2065	broad.mit.edu	37	12	56482389	56482389	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:56482389G>C	ENST00000267101.3	+	8	1377	c.937G>C	c.(937-939)Gat>Cat	p.D313H	ERBB3_ENST00000415288.2_Missense_Mutation_p.D254H|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	313					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GATGGAAGTAGATAAAAATGG	0.483																																						ENST00000267101.3																			0				central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8						c.(937-939)Gat>Cat		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3							180.0	176.0	177.0					12																	56482389		2203	4300	6503	SO:0001583	missense	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56482389G>C	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.937G>C	12.37:g.56482389G>C	ENSP00000267101:p.Asp313His					ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.D254H	p.D313H	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		8	1377	+			313					A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.937G>C	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.172897	0.57584	.	.	ENSG00000065361	ENST00000267101;ENST00000394099;ENST00000415288	D;D	0.84298	-1.83;-1.83	4.96	4.07	0.47477	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.186397	0.36034	N	0.002827	T	0.80711	0.4675	L	0.46741	1.465	0.80722	D	1	B	0.06786	0.001	B	0.11329	0.006	T	0.78170	-0.2308	10	0.87932	D	0	.	12.1501	0.54046	0.0838:0.0:0.9162:0.0	.	313	P21860	ERBB3_HUMAN	H	313;313;254	ENSP00000267101:D313H;ENSP00000408340:D254H	ENSP00000267101:D313H	D	+	1	0	ERBB3	54768656	1.000000	0.71417	0.995000	0.50966	0.755000	0.42902	5.955000	0.70306	1.330000	0.45394	0.563000	0.77884	GAT		0.483	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			81	195	0	0	0	1	0	81	195				
ABCC5	10057	broad.mit.edu	37	3	183681353	183681353	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:183681353C>T	ENST00000334444.6	-	15	2295	c.2055G>A	c.(2053-2055)ctG>ctA	p.L685L	ABCC5_ENST00000265586.6_Silent_p.L685L	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	685	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	GCCCACCGCTCAGGTTGGCTC	0.597																																						ENST00000334444.6																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(2053-2055)ctG>ctA		ATP-binding cassette, sub-family C (CFTR/MRP), member 5							58.0	63.0	61.0					3																	183681353		1999	4178	6177	SO:0001819	synonymous_variant	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183681353C>T	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.2055G>A	3.37:g.183681353C>T						ABCC5_ENST00000265586.6_Silent_p.L685L	p.L685L	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		15	2295	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		685			ABC transporter 1.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Silent	SNP	ENST00000334444.6	37	c.2055G>A	CCDS43176.1																																																																																				0.597	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		86	75	0	0	0	1	0	86	75				
CCDC22	28952	broad.mit.edu	37	X	49104139	49104139	+	Silent	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chrX:49104139C>G	ENST00000376227.3	+	9	1172	c.1002C>G	c.(1000-1002)ctC>ctG	p.L334L		NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN	coiled-coil domain containing 22	334										NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						AACAGGAGCTCGAGTCCCTTC	0.642																																						ENST00000376227.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						c.(1000-1002)ctC>ctG		coiled-coil domain containing 22							38.0	31.0	34.0					X																	49104139		2191	4292	6483	SO:0001819	synonymous_variant	28952							g.chrX:49104139C>G	BC000972	CCDS14322.1	Xp11.23	2008-02-05	2005-07-24	2005-07-24	ENSG00000101997	ENSG00000101997			28909	protein-coding gene	gene with protein product		300859	"""chromosome X open reading frame 37"""	CXorf37		12477932	Standard	NM_014008		Approved	JM1	uc004dnd.2	O60826	OTTHUMG00000024141	ENST00000376227.3:c.1002C>G	X.37:g.49104139C>G							p.L334L	NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN			9	1172	+			334					A8K7G1	Silent	SNP	ENST00000376227.3	37	c.1002C>G	CCDS14322.1																																																																																				0.642	CCDC22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060822.1	NM_014008		9	1	0	0	0	1	0	9	1				
MAP3K13	9175	broad.mit.edu	37	3	185184658	185184658	+	Missense_Mutation	SNP	G	G	A	rs369470313		TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:185184658G>A	ENST00000265026.3	+	10	1884	c.1550G>A	c.(1549-1551)cGa>cAa	p.R517Q	MAP3K13_ENST00000535426.1_Missense_Mutation_p.R373Q|MAP3K13_ENST00000443863.1_Missense_Mutation_p.R373Q|MAP3K13_ENST00000446828.1_Missense_Mutation_p.R310Q|MAP3K13_ENST00000424227.1_Missense_Mutation_p.R517Q	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13											NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			ACCTACAAACGACACCCTGTT	0.488																																						ENST00000265026.3																			0				NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(1549-1551)cGa>cAa		mitogen-activated protein kinase kinase kinase 13		G	GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	162.0	129.0	140.0		1550,929,1550	5.6	1.0	3		140	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	MAP3K13	NM_001242314.1,NM_001242317.1,NM_004721.4	43,43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	517/967,310/760,517/967	185184658	1,13005	2203	4300	6503	SO:0001583	missense	9175				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr3:185184658G>A	BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.1550G>A	3.37:g.185184658G>A	ENSP00000265026:p.Arg517Gln					MAP3K13_ENST00000535426.1_Missense_Mutation_p.R373Q|MAP3K13_ENST00000424227.1_Missense_Mutation_p.R517Q|MAP3K13_ENST00000446828.1_Missense_Mutation_p.R310Q|MAP3K13_ENST00000443863.1_Missense_Mutation_p.R373Q	p.R517Q	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		10	1884	+	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		517		R -> G (in dbSNP:rs56408536).				Missense_Mutation	SNP	ENST00000265026.3	37	c.1550G>A	CCDS3270.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.442081	0.83993	0.0	1.16E-4	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026	T;T;T;T;T	0.19806	2.12;2.12;2.12;2.12;2.12	5.56	5.56	0.83823	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.17323	0.0416	L	0.27053	0.805	0.80722	D	1	P;P;P	0.34934	0.476;0.476;0.474	B;B;B	0.30716	0.119;0.119;0.09	T	0.02991	-1.1085	10	0.31617	T	0.26	.	19.9052	0.97004	0.0:0.0:1.0:0.0	.	373;310;517	O43283-4;O43283-5;O43283	.;.;M3K13_HUMAN	Q	310;517;373;373;517	ENSP00000411483:R310Q;ENSP00000399910:R517Q;ENSP00000409325:R373Q;ENSP00000439257:R373Q;ENSP00000265026:R517Q	ENSP00000265026:R517Q	R	+	2	0	MAP3K13	186667352	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.801000	0.85960	2.776000	0.95493	0.655000	0.94253	CGA		0.488	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721		6	161	0	0	0	1	0	6	161				
INF2	64423	broad.mit.edu	37	14	105173357	105173357	+	Silent	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr14:105173357C>G	ENST00000392634.4	+	7	1066	c.954C>G	c.(952-954)ctC>ctG	p.L318L	INF2_ENST00000330634.7_Silent_p.L318L	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	318	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		TGGAGAGCCTCGTGAACCGGG	0.711																																						ENST00000392634.4																			0				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(952-954)ctC>ctG		inverted formin, FH2 and WH2 domain containing							9.0	12.0	11.0					14																	105173357		1932	4087	6019	SO:0001819	synonymous_variant	64423				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding	g.chr14:105173357C>G	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"""inverted formin 2"""	610982	"""chromosome 14 open reading frame 151"", ""chromosome 14 open reading frame 173"""	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.954C>G	14.37:g.105173357C>G						INF2_ENST00000330634.7_Silent_p.L318L	p.L318L	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)	7	1066	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	318			GBD/FH3.		Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Silent	SNP	ENST00000392634.4	37	c.954C>G	CCDS9989.2																																																																																				0.711	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	NM_022489		7	9	0	0	0	1	0	7	9				
NUP160	23279	broad.mit.edu	37	11	47814401	47814401	+	Silent	SNP	G	G	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:47814401G>T	ENST00000378460.2	-	28	3433	c.3387C>A	c.(3385-3387)ctC>ctA	p.L1129L	NUP160_ENST00000530326.1_Silent_p.L1015L|NUP160_ENST00000528071.1_Silent_p.L1015L	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	1129					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						GTAAACAATTGAGAGCAGCCA	0.468																																						ENST00000378460.2																			0				NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						c.(3385-3387)ctC>ctA		nucleoporin 160kDa							157.0	146.0	149.0					11																	47814401		2201	4298	6499	SO:0001819	synonymous_variant	23279				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr11:47814401G>T	D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"""nucleoporin 160kD"""			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.3387C>A	11.37:g.47814401G>T						NUP160_ENST00000528071.1_Silent_p.L1015L|NUP160_ENST00000530326.1_Silent_p.L1015L	p.L1129L	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN			28	3433	-			1129					B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Silent	SNP	ENST00000378460.2	37	c.3387C>A	CCDS31484.1																																																																																				0.468	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2	NM_015231		75	108	1	0	4.66136e-34	1	4.92847e-34	75	108				
STX2	2054	broad.mit.edu	37	12	131285791	131285791	+	Silent	SNP	G	G	A	rs190226290		TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:131285791G>A	ENST00000392373.2	-	8	676	c.582C>T	c.(580-582)atC>atT	p.I194I	STX2_ENST00000261653.6_Silent_p.I194I	NM_194356.2	NP_919337.1	P32856	STX2_HUMAN	syntaxin 2	194	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				acrosome reaction (GO:0007340)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|intracellular protein transport (GO:0006886)|organ morphogenesis (GO:0009887)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|signal transduction (GO:0007165)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)	calcium-dependent protein binding (GO:0048306)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)		GACGTGACTCGATTTCATTGA	0.368													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20521	0.0		0.0	False		,,,				2504	0.0					ENST00000261653.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16						c.(580-582)atC>atT		syntaxin 2							130.0	114.0	119.0					12																	131285791		2203	4300	6503	SO:0001819	synonymous_variant	2054				acrosome reaction|ectoderm development|intracellular protein transport|organ morphogenesis|signal transduction	basolateral plasma membrane|integral to membrane|microsome|soluble fraction	calcium-dependent protein binding|SNAP receptor activity	g.chr12:131285791G>A	D14582	CCDS9269.1, CCDS9270.1	12q24	2008-02-05	2006-04-25	2006-04-25	ENSG00000111450	ENSG00000111450			3403	protein-coding gene	gene with protein product		132350	"""epimorphin"""	STX2B, STX2C, STX2A, EPIM		8938452, 15943887	Standard	NM_001980		Approved	EPM	uc001uio.4	P32856	OTTHUMG00000168365	ENST00000392373.2:c.582C>T	12.37:g.131285791G>A						STX2_ENST00000392373.2_Silent_p.I194I	p.I194I	NM_001980.3	NP_001971.2	P32856	STX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)	8	748	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		194			t-SNARE coiled-coil homology.		Q86VW8	Silent	SNP	ENST00000392373.2	37	c.582C>T	CCDS9270.1																																																																																				0.368	STX2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399455.2	NM_194356		19	51	0	0	0	1	0	19	51				
SLC26A7	115111	broad.mit.edu	37	8	92346549	92346549	+	Silent	SNP	C	C	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr8:92346549C>A	ENST00000276609.3	+	6	908	c.669C>A	c.(667-669)atC>atA	p.I223I	SLC26A7_ENST00000309536.2_Silent_p.I223I|SLC26A7_ENST00000523719.1_Silent_p.I223I	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7											breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TTGAAAACATCAAGTCTGTGC	0.338																																						ENST00000276609.3																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50						c.(667-669)atC>atA		solute carrier family 26 (anion exchanger), member 7							140.0	131.0	134.0					8																	92346549		2202	4300	6502	SO:0001819	synonymous_variant	115111					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	g.chr8:92346549C>A	AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.669C>A	8.37:g.92346549C>A						SLC26A7_ENST00000523719.1_Silent_p.I223I|SLC26A7_ENST00000309536.2_Silent_p.I223I	p.I223I	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00802)		6	908	+			223						Silent	SNP	ENST00000276609.3	37	c.669C>A	CCDS6254.1	.	.	.	.	.	.	.	.	.	.	C	9.095	1.002606	0.19121	.	.	ENSG00000147606	ENST00000520818	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.922	0.97089	0.0:1.0:0.0:0.0	.	.	.	.	X	91	.	.	S	+	2	0	SLC26A7	92415725	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.586000	0.46119	2.780000	0.95670	0.655000	0.94253	TCA		0.338	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1			23	30	1	0	3.28513e-13	1	3.38575e-13	23	30				
TSSC2	650368	broad.mit.edu	37	11	3427759	3427759	+	RNA	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:3427759C>T	ENST00000529482.1	+	0	876									tumor suppressing subtransferable candidate 2 pseudogene																		TGTCTGCACACGTCCTGCAGT	0.612																																						ENST00000529482.1																			0																																																			650368							g.chr11:3427759C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427759C>T														0	876	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.612	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			4	65	0	0	0	1	0	4	65				
PCMTD1	115294	broad.mit.edu	37	8	52732960	52732960	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr8:52732960G>A	ENST00000360540.5	-	7	1431	c.1025C>T	c.(1024-1026)cCc>cTc	p.P342L	PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_Missense_Mutation_p.P266L|PCMTD1_ENST00000522514.1_Missense_Mutation_p.P342L	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	342						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)	p.P342L(2)		NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				TTCAGGGAGGGGCAGCTTCAT	0.353																																						ENST00000360540.5																			2	Substitution - Missense(2)	p.P342L(2)	prostate(1)|skin(1)	NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37						c.(1024-1026)cCc>cTc		protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1							70.0	68.0	69.0					8																	52732960		2203	4300	6503	SO:0001583	missense	115294					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr8:52732960G>A		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.1025C>T	8.37:g.52732960G>A	ENSP00000353739:p.Pro342Leu					PCMTD1_ENST00000544451.1_Missense_Mutation_p.P266L|PCMTD1_ENST00000522514.1_Missense_Mutation_p.P342L|PCMTD1_ENST00000519559.1_5'UTR	p.P342L	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN			7	1431	-		Lung NSC(129;0.0795)|all_lung(136;0.144)	342					Q96FK9	Missense_Mutation	SNP	ENST00000360540.5	37	c.1025C>T	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.679697	0.88542	.	.	ENSG00000168300	ENST00000360540;ENST00000544451;ENST00000522514	T;T;T	0.71461	0.24;-0.57;0.24	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.84835	0.5560	M	0.71036	2.16	0.80722	D	1	D;D;D	0.89917	0.995;1.0;0.999	P;D;D	0.91635	0.769;0.999;0.981	D	0.84761	0.0762	10	0.87932	D	0	-0.0352	20.6593	0.99626	0.0:0.0:1.0:0.0	.	212;266;342	B4E2B4;F5H1M8;Q96MG8	.;.;PCMD1_HUMAN	L	342;266;342	ENSP00000353739:P342L;ENSP00000444026:P266L;ENSP00000428099:P342L	ENSP00000353739:P342L	P	-	2	0	PCMTD1	52895513	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.903000	0.92573	2.885000	0.99019	0.655000	0.94253	CCC		0.353	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937		4	78	0	0	0	1	0	4	78				
ZNF750	79755	broad.mit.edu	37	17	80789699	80789699	+	Nonsense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr17:80789699G>C	ENST00000269394.3	-	2	1465	c.632C>G	c.(631-633)tCa>tGa	p.S211*	TBCD_ENST00000397466.2_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000539345.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	211					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AAGGAAAGGTGAGCCGGCTTT	0.567																																						ENST00000269394.3																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31						c.(631-633)tCa>tGa		zinc finger protein 750							59.0	61.0	60.0					17																	80789699		2203	4300	6503	SO:0001587	stop_gained	79755					intracellular	zinc ion binding	g.chr17:80789699G>C	AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.632C>G	17.37:g.80789699G>C	ENSP00000269394:p.Ser211*					TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Intron	p.S211*	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)		2	1465	-	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	211					Q9H899	Nonsense_Mutation	SNP	ENST00000269394.3	37	c.632C>G	CCDS11819.1	.	.	.	.	.	.	.	.	.	.	G	42	9.665167	0.99233	.	.	ENSG00000141579	ENST00000269394	.	.	.	4.94	4.94	0.65067	.	0.113632	0.39834	N	0.001241	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.1815	11.5295	0.50599	0.0842:0.0:0.9158:0.0	.	.	.	.	X	211	.	.	S	-	2	0	ZNF750	78382988	0.987000	0.35691	0.202000	0.23494	0.777000	0.43975	4.452000	0.60054	2.668000	0.90789	0.655000	0.94253	TCA		0.567	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2	NM_024702		74	23	0	0	0	1	0	74	23				
SRGAP1	57522	broad.mit.edu	37	12	64437226	64437226	+	Splice_Site	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:64437226G>A	ENST00000355086.3	+	6	1196		c.e6-1		SRGAP1_ENST00000357825.3_Splice_Site|SRGAP1_ENST00000543397.1_Splice_Site|RP11-196H14.2_ENST00000535594.1_RNA	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1						axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CTTCATTCCAGAGACAAGCAA	0.338																																						ENST00000355086.3																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65						c.e6-1		SLIT-ROBO Rho GTPase activating protein 1							68.0	63.0	65.0					12																	64437226		2203	4299	6502	SO:0001630	splice_region_variant	57522				axon guidance	cytosol		g.chr12:64437226G>A	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.673-1G>A	12.37:g.64437226G>A						SRGAP1_ENST00000543397.1_Splice_Site|SRGAP1_ENST00000357825.3_Splice_Site|RP11-196H14.2_ENST00000535594.1_RNA		NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	6	1196	+								Q9H8A3|Q9P2P2	Splice_Site	SNP	ENST00000355086.3	37		CCDS8967.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.154269	0.78114	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9239	0.97097	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SRGAP1	62723493	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.787000	0.99055	2.797000	0.96272	0.563000	0.77884	.		0.338	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1		Intron	22	23	0	0	0	1	0	22	23				
MYO7B	4648	broad.mit.edu	37	2	128341887	128341887	+	Missense_Mutation	SNP	G	G	A	rs371035844		TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:128341887G>A	ENST00000409816.2	+	12	1566	c.1534G>A	c.(1534-1536)Gaa>Aaa	p.E512K	MYO7B_ENST00000389524.4_Missense_Mutation_p.E512K|MYO7B_ENST00000428314.1_Missense_Mutation_p.E512K			Q6PIF6	MYO7B_HUMAN	myosin VIIB	512	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CCTCCTGGACGAAGAAAGCCG	0.602																																						ENST00000389524.4																			0				breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75						c.(1534-1536)Gaa>Aaa		myosin VIIB		G	LYS/GLU	1,4083		0,1,2041	69.0	74.0	73.0		1534	4.6	0.8	2		73	0,8350		0,0,4175	no	missense	MYO7B	NM_001080527.1	56	0,1,6216	AA,AG,GG		0.0,0.0245,0.0080	probably-damaging	512/2117	128341887	1,12433	2042	4175	6217	SO:0001583	missense	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128341887G>A		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.1534G>A	2.37:g.128341887G>A	ENSP00000386461:p.Glu512Lys					MYO7B_ENST00000409816.2_Missense_Mutation_p.E512K|MYO7B_ENST00000428314.1_Missense_Mutation_p.E512K	p.E512K			Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	13	1587	+	Colorectal(110;0.1)		512			Myosin head-like.		Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	c.1534G>A	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.367389	0.82463	2.45E-4	0.0	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	T;T;T	0.80653	-1.4;-1.4;-1.4	4.58	4.58	0.56647	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.93769	0.8008	H	0.98027	4.13	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96088	0.9059	10	0.87932	D	0	.	17.9208	0.88965	0.0:0.0:1.0:0.0	.	512	Q6PIF6	MYO7B_HUMAN	K	512	ENSP00000374175:E512K;ENSP00000415090:E512K;ENSP00000386461:E512K	ENSP00000374175:E512K	E	+	1	0	MYO7B	128058357	1.000000	0.71417	0.780000	0.31762	0.269000	0.26545	9.531000	0.98054	2.541000	0.85698	0.650000	0.86243	GAA		0.602	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		15	87	0	0	0	1	0	15	87				
AGAP11	119385	broad.mit.edu	37	10	88768140	88768140	+	RNA	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr10:88768140G>C	ENST00000444431.1	+	0	2740				RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.10_ENST00000451760.1_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)										ACGAAGAAAAGAAATGGAGGT	0.463																																						ENST00000444431.1																			0													ankyrin repeat and GTPase domain Arf GTPase activating protein 11							114.0	110.0	111.0					10																	88768140		2033	4235	6268			119385				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:88768140G>C			10q23.2	2013-01-11			ENSG00000151303	ENSG00000151303		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	29421	protein-coding gene	gene with protein product						11853319	Standard	NM_133447		Approved	KIAA1975	uc001kee.2	Q8TF27	OTTHUMG00000018667		10.37:g.88768140G>C						RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA				Q8TF27	AGA11_HUMAN			0	2740	+								B9EIP7|D3DWE4	RNA	SNP	ENST00000444431.1	37																																																																																						0.463	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000049193.1	NM_133447		49	76	0	0	0	1	0	49	76				
HRNR	388697	broad.mit.edu	37	1	152195636	152195636	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:152195636C>T	ENST00000368801.2	-	2	169	c.94G>A	c.(94-96)Gag>Aag	p.E32K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	32	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.|S-100-like.				establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTTTCAGCTCTGCCTTGTTC	0.413																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(94-96)Gag>Aag		hornerin							162.0	148.0	153.0					1																	152195636		2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152195636C>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.94G>A	1.37:g.152195636C>T	ENSP00000357791:p.Glu32Lys					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.E32K	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	169	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		32			EF-hand 1.|S-100-like.		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.94G>A	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.724071	0.68959	.	.	ENSG00000197915	ENST00000368801	T	0.25749	1.78	5.4	5.4	0.78164	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	.	.	.	.	T	0.55401	0.1918	H	0.94503	3.545	0.33203	D	0.552468	D	0.89917	1.0	D	0.87578	0.998	T	0.67975	-0.5531	9	0.87932	D	0	.	14.547	0.68038	0.0:1.0:0.0:0.0	.	32	Q86YZ3	HORN_HUMAN	K	32	ENSP00000357791:E32K	ENSP00000357791:E32K	E	-	1	0	HRNR	150462260	0.843000	0.29541	1.000000	0.80357	0.978000	0.69477	1.915000	0.39976	2.818000	0.97014	0.591000	0.81541	GAG		0.413	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		8	90	0	0	0	1	0	8	90				
NAP1L3	4675	broad.mit.edu	37	X	92926978	92926978	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chrX:92926978G>C	ENST00000373079.3	-	1	1589	c.1326C>G	c.(1324-1326)ttC>ttG	p.F442L	FAM133A_ENST00000355813.5_5'Flank|FAM133A_ENST00000322139.4_5'Flank|FAM133A_ENST00000538690.1_5'Flank|NAP1L3_ENST00000475430.2_Missense_Mutation_p.F435L|FAM133A_ENST00000332647.4_5'Flank	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	442					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)		p.F442F(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						GAGGACTAAAGAAGTTGAAGA	0.423																																						ENST00000373079.3																			1	Substitution - coding silent(1)	p.F442F(1)	lung(1)	haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(1324-1326)ttC>ttG		nucleosome assembly protein 1-like 3							78.0	61.0	67.0					X																	92926978		2203	4300	6503	SO:0001583	missense	4675				nucleosome assembly	chromatin assembly complex		g.chrX:92926978G>C		CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.1326C>G	X.37:g.92926978G>C	ENSP00000362171:p.Phe442Leu					NAP1L3_ENST00000475430.1_5'UTR	p.F442L	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN			1	1589	-			442					B2RCM0|O60788	Missense_Mutation	SNP	ENST00000373079.3	37	c.1326C>G	CCDS14465.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.139172	0.56936	.	.	ENSG00000186310	ENST00000373079;ENST00000543136	T	0.58358	0.34	3.42	0.666	0.17901	.	0.050518	0.85682	D	0.000000	T	0.60405	0.2266	M	0.84773	2.715	0.35936	D	0.832871	P	0.38978	0.652	P	0.47299	0.543	T	0.65693	-0.6106	10	0.87932	D	0	.	6.8536	0.24028	0.3547:0.0:0.6453:0.0	.	442	Q99457	NP1L3_HUMAN	L	442;435	ENSP00000362171:F442L	ENSP00000362171:F442L	F	-	3	2	NAP1L3	92813634	1.000000	0.71417	0.799000	0.32177	0.969000	0.65631	1.181000	0.32017	0.016000	0.14998	0.529000	0.55759	TTC		0.423	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057449.1	NM_004538		12	0	0	0	0	1	0	12	0				
FASTKD3	79072	broad.mit.edu	37	5	7868154	7868154	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr5:7868154C>T	ENST00000264669.5	-	2	179	c.43G>A	c.(43-45)Gat>Aat	p.D15N	MTRR_ENST00000264668.2_5'Flank|MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000440940.2_5'Flank|MTRR_ENST00000341013.6_5'Flank	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	15					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ATCTGAAAATCAGATAAACGA	0.348																																						ENST00000264669.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(43-45)Gat>Aat		FAST kinase domains 3							57.0	64.0	62.0					5																	7868154		2203	4300	6503	SO:0001583	missense	79072				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr5:7868154C>T	AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.43G>A	5.37:g.7868154C>T	ENSP00000264669:p.Asp15Asn					MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_Intron	p.D15N	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN			2	179	-			15					Q9BVD3	Missense_Mutation	SNP	ENST00000264669.5	37	c.43G>A	CCDS3873.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.915894	0.33815	.	.	ENSG00000124279	ENST00000264669;ENST00000504695	T;T	0.27104	1.69;1.69	4.75	0.909	0.19332	.	1.108190	0.06793	N	0.787275	T	0.23171	0.0560	L	0.57536	1.79	0.09310	N	1	B	0.14805	0.011	B	0.09377	0.004	T	0.34925	-0.9809	10	0.16420	T	0.52	-6.3911	6.5925	0.22654	0.0:0.4958:0.0:0.5042	.	15	Q14CZ7	FAKD3_HUMAN	N	15	ENSP00000264669:D15N;ENSP00000426008:D15N	ENSP00000264669:D15N	D	-	1	0	FASTKD3	7921154	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.382000	0.20635	0.301000	0.22738	0.655000	0.94253	GAT		0.348	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	NM_024091		32	41	0	0	0	1	0	32	41				
GGH	8836	broad.mit.edu	37	8	63951271	63951271	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr8:63951271C>T	ENST00000260118.6	-	1	459	c.57G>A	c.(55-57)gcG>gcA	p.A19A		NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	19					glutamine metabolic process (GO:0006541)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	exopeptidase activity (GO:0008238)|gamma-glutamyl-peptidase activity (GO:0034722)|omega peptidase activity (GO:0008242)			breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|Methotrexate(DB00563)	GCTCGAGGCTCGCCGCCCCGC	0.701																																						ENST00000260118.6																			0				breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11						c.(55-57)gcG>gcA		gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	Folic Acid(DB00158)|L-Glutamic Acid(DB00142)						14.0	14.0	14.0					8																	63951271		2186	4285	6471	SO:0001819	synonymous_variant	8836				glutamine metabolic process	extracellular space|lysosome|melanosome	gamma-glutamyl-peptidase activity	g.chr8:63951271C>T	U55206	CCDS6177.1	8q12.3	2008-02-05			ENSG00000137563	ENSG00000137563	3.4.19.9		4248	protein-coding gene	gene with protein product		601509				8816764, 10570974	Standard	NM_003878		Approved		uc003xuw.3	Q92820	OTTHUMG00000164365	ENST00000260118.6:c.57G>A	8.37:g.63951271C>T							p.A19A	NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN			1	459	-	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)	19						Silent	SNP	ENST00000260118.6	37	c.57G>A	CCDS6177.1																																																																																				0.701	GGH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378453.1			18	9	0	0	0	1	0	18	9				
BOLA1	51027	broad.mit.edu	37	1	149871805	149871805	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:149871805G>A	ENST00000369153.2	+	3	857	c.193G>A	c.(193-195)Gag>Aag	p.E65K	BOLA1_ENST00000476344.1_3'UTR|BOLA1_ENST00000369150.1_Missense_Mutation_p.E65K|BOLA1_ENST00000369152.5_Missense_Mutation_p.E65K			Q9Y3E2	BOLA1_HUMAN	bolA family member 1	65						extracellular region (GO:0005576)|mitochondrion (GO:0005739)		p.E65K(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	10	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GCCTGGCAGTGAGACTCACTT	0.677																																						ENST00000369153.2																			1	Substitution - Missense(1)	p.E65K(1)	lung(1)	endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	10						c.(193-195)Gag>Aag		bolA family member 1							39.0	36.0	37.0					1																	149871805		2203	4298	6501	SO:0001583	missense	51027					extracellular region	protein binding	g.chr1:149871805G>A	AF151901	CCDS939.1	1q21	2013-09-02	2013-09-02		ENSG00000178096	ENSG00000178096			24263	protein-coding gene	gene with protein product		613181	"""bolA-like 1 (E. coli)"", ""bolA homolog 1 (E. coli)"""			14718656	Standard	NM_016074		Approved	CGI-143	uc001etf.3	Q9Y3E2	OTTHUMG00000012087	ENST00000369153.2:c.193G>A	1.37:g.149871805G>A	ENSP00000358149:p.Glu65Lys					BOLA1_ENST00000369150.1_Missense_Mutation_p.E65K|BOLA1_ENST00000369152.5_Missense_Mutation_p.E65K|BOLA1_ENST00000476344.1_3'UTR	p.E65K			Q9Y3E2	BOLA1_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		3	857	+	Breast(34;0.0124)|all_hematologic(923;0.127)		65					B2R7K2|D3DUZ4|Q5QNY0	Missense_Mutation	SNP	ENST00000369153.2	37	c.193G>A	CCDS939.1	.	.	.	.	.	.	.	.	.	.	G	35	5.575797	0.96553	.	.	ENSG00000178096	ENST00000369153;ENST00000369152;ENST00000369150	T;T;T	0.65178	-0.14;-0.14;-0.14	5.35	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.78648	0.4316	M	0.91663	3.23	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82070	-0.0639	10	0.87932	D	0	0.0065	11.3972	0.49849	0.0881:0.0:0.9119:0.0	.	65	Q9Y3E2	BOLA1_HUMAN	K	65	ENSP00000358149:E65K;ENSP00000358148:E65K;ENSP00000358146:E65K	ENSP00000358146:E65K	E	+	1	0	BOLA1	148138429	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	6.527000	0.73803	2.668000	0.90789	0.462000	0.41574	GAG		0.677	BOLA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033443.2	NM_016074		7	56	0	0	0	1	0	7	56				
DCHS2	54798	broad.mit.edu	37	4	155219431	155219431	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:155219431C>G	ENST00000357232.4	-	18	4669	c.4670G>C	c.(4669-4671)tGt>tCt	p.C1557S		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1557	Cadherin 13. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CTGGATGCTACAGTCTCTGGC	0.438																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(4669-4671)tGt>tCt		dachsous cadherin-related 2							122.0	117.0	118.0					4																	155219431		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155219431C>G	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.4670G>C	4.37:g.155219431C>G	ENSP00000349768:p.Cys1557Ser						p.C1557S	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	18	4669	-	all_hematologic(180;0.208)	Renal(120;0.0854)	1557			Cadherin 13.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.4670G>C	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	5.763	0.325198	0.10900	.	.	ENSG00000197410	ENST00000357232	T	0.47528	0.84	5.72	3.97	0.46021	Cadherin (4);Cadherin-like (1);	0.583811	0.17818	N	0.160957	T	0.25232	0.0613	N	0.16066	0.365	0.80722	D	1	B	0.25850	0.136	B	0.18871	0.023	T	0.04373	-1.0956	10	0.13853	T	0.58	.	7.4674	0.27330	0.1268:0.6846:0.1223:0.0663	.	1557	Q6V1P9	PCD23_HUMAN	S	1557	ENSP00000349768:C1557S	ENSP00000349768:C1557S	C	-	2	0	DCHS2	155438881	0.002000	0.14202	0.444000	0.26895	0.872000	0.50106	0.442000	0.21628	0.861000	0.35504	0.644000	0.83932	TGT		0.438	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		38	91	0	0	0	1	0	38	91				
CACNG4	27092	broad.mit.edu	37	17	65026815	65026815	+	Missense_Mutation	SNP	T	T	C	rs200489504		TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr17:65026815T>C	ENST00000262138.3	+	4	681	c.679T>C	c.(679-681)Tct>Cct	p.S227P	AC005544.1_ENST00000375684.1_5'Flank|RP11-74H8.1_ENST00000579138.1_RNA	NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	227					membrane depolarization (GO:0051899)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			GGCGTCTTCCTCTTCTCCTTA	0.557																																						ENST00000262138.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19						c.(679-681)Tct>Cct		calcium channel, voltage-dependent, gamma subunit 4		T	PRO/SER	0,4406		0,0,2203	81.0	83.0	82.0		679	4.8	1.0	17		82	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CACNG4	NM_014405.3	74	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign	227/328	65026815	1,13005	2203	4300	6503	SO:0001583	missense	27092				membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity	g.chr17:65026815T>C	AH008289	CCDS11667.1	17q24	2006-01-23				ENSG00000075461		"""Calcium channel subunits"""	1408	protein-coding gene	gene with protein product		606404				10613843	Standard	NM_014405		Approved	MGC11138, MGC24983	uc002jft.2	Q9UBN1		ENST00000262138.3:c.679T>C	17.37:g.65026815T>C	ENSP00000262138:p.Ser227Pro						p.S227P	NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	BRCA - Breast invasive adenocarcinoma(6;1.35e-07)		4	681	+	all_cancers(12;9.86e-11)		227					B2RCK0	Missense_Mutation	SNP	ENST00000262138.3	37	c.679T>C	CCDS11667.1	.	.	.	.	.	.	.	.	.	.	T	16.93	3.259180	0.59321	0.0	1.16E-4	ENSG00000075461	ENST00000262138	T	0.57907	0.37	4.84	4.84	0.62591	.	0.195462	0.46145	D	0.000316	T	0.39627	0.1085	L	0.33485	1.01	0.44789	D	0.997799	B	0.12630	0.006	B	0.08055	0.003	T	0.22208	-1.0223	10	0.30854	T	0.27	-18.6101	10.4747	0.44657	0.1544:0.0:0.0:0.8456	.	227	Q9UBN1	CCG4_HUMAN	P	227	ENSP00000262138:S227P	ENSP00000262138:S227P	S	+	1	0	CACNG4	62457277	1.000000	0.71417	0.975000	0.42487	0.976000	0.68499	5.840000	0.69402	1.845000	0.53610	0.454000	0.30748	TCT		0.557	CACNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447036.1	NM_014405		104	87	0	0	0	1	0	104	87				
CEP350	9857	broad.mit.edu	37	1	180062752	180062752	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:180062752G>C	ENST00000367607.3	+	34	7930	c.7512G>C	c.(7510-7512)ttG>ttC	p.L2504F	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2504					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						ATAGGGTGTTGATTGGAAATG	0.428																																						ENST00000367607.3																			0				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(7510-7512)ttG>ttC		centrosomal protein 350kDa							94.0	88.0	90.0					1																	180062752		2203	4300	6503	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:180062752G>C	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.7512G>C	1.37:g.180062752G>C	ENSP00000356579:p.Leu2504Phe					CEP350_ENST00000490141.1_3'UTR	p.L2504F	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN			34	7930	+			2504					O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.7512G>C	CCDS1336.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.79|15.79	2.938168|2.938168	0.52972|0.52972	.|.	.|.	ENSG00000135837|ENSG00000135837	ENST00000429851|ENST00000367607	.|D	.|0.91577	.|-2.87	5.7|5.7	-1.01|-1.01	0.10169|0.10169	.|Cytoskeleton-associated protein, Gly-rich domain (3);	.|0.226743	.|0.18862	.|N	.|0.129105	D|D	0.91771|0.91771	0.7397|0.7397	M|M	0.72353|0.72353	2.195|2.195	0.51233|0.51233	D|D	0.999919|0.999919	.|D;D	.|0.89917	.|1.0;0.999	.|D;D	.|0.97110	.|1.0;0.997	D|D	0.86814|0.86814	0.2000|0.2000	5|9	.|.	.|.	.|.	.|.	1.654|1.654	0.02778|0.02778	0.47:0.1055:0.2315:0.193|0.47:0.1055:0.2315:0.193	.|.	.|2504;2504	.|E7EU22;Q5VT06	.|.;CE350_HUMAN	H|F	679|2504	.|ENSP00000356579:L2504F	.|.	D|L	+|+	1|3	0|2	CEP350|CEP350	178329375|178329375	0.979000|0.979000	0.34478|0.34478	0.989000|0.989000	0.46669|0.46669	0.999000|0.999000	0.98932|0.98932	0.055000|0.055000	0.14229|0.14229	0.004000|0.004000	0.14682|0.14682	0.655000|0.655000	0.94253|0.94253	GAT|TTG		0.428	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		27	40	0	0	0	1	0	27	40				
WIPF2	147179	broad.mit.edu	37	17	38416864	38416864	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr17:38416864G>A	ENST00000323571.4	+	3	381	c.141G>A	c.(139-141)ggG>ggA	p.G47G	WIPF2_ENST00000585043.1_Silent_p.G47G|WIPF2_ENST00000583130.1_Silent_p.G47G|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000394103.3_Silent_p.G47G|WIPF2_ENST00000536600.1_Silent_p.G47G	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	47	WH2. {ECO:0000255|PROSITE- ProRule:PRU00406}.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						TTTGCAAAGGGACCAAGCTGA	0.517										HNSCC(43;0.11)																												ENST00000323571.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						c.(139-141)ggG>ggA		WAS/WASL interacting protein family, member 2							121.0	100.0	107.0					17																	38416864		2203	4300	6503	SO:0001819	synonymous_variant	147179					cytoplasm|cytoskeleton	actin binding	g.chr17:38416864G>A	BC025965	CCDS11364.1	17q21.2	2006-10-12			ENSG00000171475	ENSG00000171475			30923	protein-coding gene	gene with protein product		609692				12213210, 11829459	Standard	XM_005257083		Approved	WICH, WIRE	uc002hug.1	Q8TF74	OTTHUMG00000133331	ENST00000323571.4:c.141G>A	17.37:g.38416864G>A		HNSCC(43;0.11)				WIPF2_ENST00000536600.1_Silent_p.G47G|WIPF2_ENST00000585043.1_Silent_p.G47G|WIPF2_ENST00000394103.3_Silent_p.G47G|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000583130.1_Silent_p.G47G	p.G47G	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN			3	381	+			47			WH2.		A8K0L3|Q658J8|Q71RE1|Q8TE44	Silent	SNP	ENST00000323571.4	37	c.141G>A	CCDS11364.1																																																																																				0.517	WIPF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257157.2	NM_133264		35	92	0	0	0	1	0	35	92				
CEP89	84902	broad.mit.edu	37	19	33370136	33370136	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:33370136G>C	ENST00000305768.5	-	19	2372	c.2284C>G	c.(2284-2286)Cag>Gag	p.Q762E	CTD-2085J24.4_ENST00000586628.2_lincRNA	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	762					cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						AGGTCTGCCTGAGAGACGCCA	0.597																																						ENST00000305768.4																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						c.(2284-2286)Cag>Gag		centrosomal protein 89kDa							123.0	116.0	119.0					19																	33370136		2203	4300	6503	SO:0001583	missense	84902					centrosome|spindle pole		g.chr19:33370136G>C	AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289			25907	protein-coding gene	gene with protein product		615470	"""coiled-coil domain containing 123"""	CCDC123		16395595	Standard	NM_032816		Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.2284C>G	19.37:g.33370136G>C	ENSP00000306105:p.Gln762Glu						p.Q762E	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN			19	2372	-			762					B9EGA6|Q8N5J8	Missense_Mutation	SNP	ENST00000305768.5	37	c.2284C>G	CCDS32987.1	.	.	.	.	.	.	.	.	.	.	G	9.259	1.042764	0.19748	.	.	ENSG00000121289	ENST00000305768	T	0.31769	1.48	4.66	1.1	0.20463	.	1.002150	0.08044	N	0.995599	T	0.24774	0.0601	L	0.47716	1.5	0.09310	N	1	B	0.14438	0.01	B	0.11329	0.006	T	0.30966	-0.9960	10	0.51188	T	0.08	0.0	3.9944	0.09551	0.0948:0.1616:0.5776:0.1661	.	762	Q96ST8	CEP89_HUMAN	E	762	ENSP00000306105:Q762E	ENSP00000306105:Q762E	Q	-	1	0	CEP89	38061976	0.011000	0.17503	0.004000	0.12327	0.007000	0.05969	1.753000	0.38359	1.046000	0.40249	0.561000	0.74099	CAG		0.597	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451300.2	NM_032816		85	116	0	0	0	1	0	85	116				
PLCE1	51196	broad.mit.edu	37	10	96022449	96022449	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr10:96022449G>T	ENST00000371380.3	+	13	4248	c.4013G>T	c.(4012-4014)gGa>gTa	p.G1338V	PLCE1_ENST00000371385.3_Missense_Mutation_p.G1030V|PLCE1_ENST00000260766.3_Missense_Mutation_p.G1338V|PLCE1_ENST00000371375.1_Missense_Mutation_p.G1030V			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1338					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AATTGCCAAGGAGAACACTGC	0.458																																						ENST00000260766.3																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(4012-4014)gGa>gTa		phospholipase C, epsilon 1							166.0	161.0	163.0					10																	96022449		2004	4179	6183	SO:0001583	missense	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:96022449G>T		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.4013G>T	10.37:g.96022449G>T	ENSP00000360431:p.Gly1338Val					PLCE1_ENST00000371375.1_Missense_Mutation_p.G1030V|PLCE1_ENST00000371385.3_Missense_Mutation_p.G1030V|PLCE1_ENST00000371380.2_Missense_Mutation_p.G1338V	p.G1338V	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN			14	4647	+		Colorectal(252;0.0458)	1338					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.4013G>T	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.221636	0.79464	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.19105	2.17;2.17;2.17;2.17	5.76	5.76	0.90799	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);EF-hand-like domain (1);	0.310402	0.31772	N	0.007099	T	0.39886	0.1095	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.976	D;D;D	0.79784	0.993;0.971;0.935	T	0.04855	-1.0922	10	0.51188	T	0.08	.	19.9596	0.97236	0.0:0.0:1.0:0.0	.	1322;1030;1338	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	V	1338;1338;1030;1030	ENSP00000260766:G1338V;ENSP00000360431:G1338V;ENSP00000360438:G1030V;ENSP00000360426:G1030V	ENSP00000260766:G1338V	G	+	2	0	PLCE1	96012439	1.000000	0.71417	0.999000	0.59377	0.819000	0.46315	9.827000	0.99397	2.726000	0.93360	0.655000	0.94253	GGA		0.458	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		14	124	1	0	0.00185496	1	0.00186802	14	124				
CLK2	1196	broad.mit.edu	37	1	155239300	155239300	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:155239300C>T	ENST00000368361.4	-	3	693	c.378G>A	c.(376-378)cgG>cgA	p.R126R	CLK2_ENST00000497188.1_5'Flank|CLK2_ENST00000355560.4_Silent_p.R125R|CLK2_ENST00000361168.5_Silent_p.R126R|CLK2_ENST00000536801.1_Silent_p.R126R			P49760	CLK2_HUMAN	CDC-like kinase 2	126					negative regulation of gluconeogenesis (GO:0045721)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)|response to ionizing radiation (GO:0010212)|response to retinoic acid (GO:0032526)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGCTAAATGTCCGGCTGCGCC	0.597								Other conserved DNA damage response genes																														ENST00000368361.4																			0				endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22						c.(376-378)cgG>cgA	Other conserved DNA damage response genes	CDC-like kinase 2							65.0	60.0	62.0					1																	155239300		2203	4300	6503	SO:0001819	synonymous_variant	1196					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:155239300C>T	L29218	CCDS1107.1, CCDS72939.1	1q21	2008-05-02			ENSG00000176444	ENSG00000176444		"""CDC-like kinases"""	2069	protein-coding gene	gene with protein product		602989				7990150, 9856501	Standard	XM_005244876		Approved	clk2	uc001fjw.3	P49760	OTTHUMG00000035873	ENST00000368361.4:c.378G>A	1.37:g.155239300C>T						CLK2_ENST00000361168.5_Silent_p.R126R|CLK2_ENST00000536801.1_Silent_p.R126R|CLK2_ENST00000355560.4_Silent_p.R125R	p.R126R			P49760	CLK2_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		3	693	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		126					B1AVS9|B5MBX6|Q96CQ0	Silent	SNP	ENST00000368361.4	37	c.378G>A																																																																																					0.597	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000087391.1	NM_003993		12	127	0	0	0	1	0	12	127				
CEACAM6	4680	broad.mit.edu	37	19	42270107	42270107	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:42270107C>T	ENST00000199764.6	+	5	1193	c.975C>T	c.(973-975)ctC>ctT	p.L325L	AC011513.4_ENST00000601409.1_RNA	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	325					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		CTCCTGTCCTCTCAGCTGTGG	0.517																																						ENST00000199764.6																			0				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18						c.(973-975)ctC>ctT		carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)							143.0	124.0	130.0					19																	42270107		2203	4300	6503	SO:0001819	synonymous_variant	4680				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane		g.chr19:42270107C>T	M29541	CCDS12585.1	19q13.1-q13.2	2013-01-29			ENSG00000086548	ENSG00000086548		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1818	protein-coding gene	gene with protein product		163980		NCA			Standard	NM_002483		Approved	CD66c	uc002orm.2	P40199	OTTHUMG00000151064	ENST00000199764.6:c.975C>T	19.37:g.42270107C>T						AC011513.4_ENST00000601409.1_RNA	p.L325L	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)	5	1193	+			325					Q13774|Q14920|Q53XP7	Silent	SNP	ENST00000199764.6	37	c.975C>T	CCDS12585.1																																																																																				0.517	CEACAM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321147.1			7	91	0	0	0	1	0	7	91				
SNX29	92017	broad.mit.edu	37	16	12121228	12121228	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:12121228G>A	ENST00000566228.1	+	4	243	c.174G>A	c.(172-174)aaG>aaA	p.K58K		NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	58	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.					extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						ATGGCTTGAAGAGGAGTCGAG	0.562																																						ENST00000566228.1																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						c.(172-174)aaG>aaA		sorting nexin 29							113.0	106.0	108.0					16																	12121228		2197	4300	6497	SO:0001819	synonymous_variant	92017				cell communication		phosphatidylinositol binding	g.chr16:12121228G>A	AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"""Sorting nexins"""	30542	protein-coding gene	gene with protein product			"""RUN domain containing 2A"""	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.174G>A	16.37:g.12121228G>A							p.K58K	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN			4	243	+			0					B5MDW2|Q8N2X2|Q9HA26	Silent	SNP	ENST00000566228.1	37	c.174G>A	CCDS10553.2																																																																																				0.562	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422622.1			90	151	0	0	0	1	0	90	151				
ANKRD26	22852	broad.mit.edu	37	10	27335406	27335406	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr10:27335406C>G	ENST00000376087.4	-	18	2026	c.1861G>C	c.(1861-1863)Gaa>Caa	p.E621Q	ANKRD26_ENST00000436985.2_Missense_Mutation_p.E637Q|ANKRD26_ENST00000376070.3_Missense_Mutation_p.E178Q	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	620					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						GTCCGTTTTTCTTTTTCAGTG	0.388																																						ENST00000376087.4																			0				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						c.(1861-1863)Gaa>Caa		ankyrin repeat domain 26							131.0	121.0	124.0					10																	27335406		1820	4088	5908	SO:0001583	missense	22852					centrosome		g.chr10:27335406C>G	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.1861G>C	10.37:g.27335406C>G	ENSP00000365255:p.Glu621Gln					ANKRD26_ENST00000376070.3_Missense_Mutation_p.E178Q|ANKRD26_ENST00000436985.2_Missense_Mutation_p.E637Q	p.E621Q	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN			18	2026	-			620					A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	ENST00000376087.4	37	c.1861G>C	CCDS41499.1	.	.	.	.	.	.	.	.	.	.	C	6.658	0.489897	0.12702	.	.	ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985	T;T;T	0.34667	3.78;4.28;1.35	4.28	1.26	0.21427	.	1.536300	0.04164	U	0.323539	T	0.28699	0.0711	L	0.37630	1.12	0.09310	N	1	B;B;B	0.31318	0.015;0.009;0.319	B;B;B	0.28916	0.01;0.005;0.096	T	0.25676	-1.0125	10	0.59425	D	0.04	.	4.4336	0.11540	0.0:0.6047:0.1848:0.2105	.	621;620;637	Q9UPS8-3;Q9UPS8;A1L497	.;ANR26_HUMAN;.	Q	178;621;637	ENSP00000365238:E178Q;ENSP00000365255:E621Q;ENSP00000405112:E637Q	ENSP00000365238:E178Q	E	-	1	0	ANKRD26	27375412	0.001000	0.12720	0.000000	0.03702	0.059000	0.15707	0.375000	0.20518	0.089000	0.17243	0.289000	0.19496	GAA		0.388	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			5	48	0	0	0	1	0	5	48				
EML3	256364	broad.mit.edu	37	11	62373366	62373366	+	Silent	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:62373366C>G	ENST00000394773.2	-	14	2050	c.1743G>C	c.(1741-1743)ctG>ctC	p.L581L	RP11-831H9.3_ENST00000532626.1_RNA|EML3_ENST00000438258.1_5'Flank|EML3_ENST00000529309.1_Silent_p.L581L|EML3_ENST00000531557.1_Silent_p.L364L|EML3_ENST00000494176.2_Silent_p.L553L|EML3_ENST00000278845.4_Silent_p.L582L	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	581						cytoplasm (GO:0005737)|microtubule (GO:0005874)				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GGTCTCCCCTCAGCAATGCAT	0.612																																						ENST00000394773.2																			0				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1741-1743)ctG>ctC		echinoderm microtubule associated protein like 3							82.0	83.0	83.0					11																	62373366		2202	4299	6501	SO:0001819	synonymous_variant	256364					cytoplasm|microtubule	protein binding	g.chr11:62373366C>G	AK093146	CCDS8023.2	11q12.3	2013-01-10			ENSG00000149499	ENSG00000149499		"""WD repeat domain containing"""	26666	protein-coding gene	gene with protein product						15225882, 14744259	Standard	NM_153265		Approved	FLJ35827, ELP95	uc001ntu.1	Q32P44	OTTHUMG00000149817	ENST00000394773.2:c.1743G>C	11.37:g.62373366C>G						EML3_ENST00000531557.1_Silent_p.L364L|EML3_ENST00000494176.2_Silent_p.L553L|EML3_ENST00000529309.1_Silent_p.L581L|EML3_ENST00000278845.4_Silent_p.L582L	p.L581L	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN			14	2050	-			581					Q6ZQW7|Q8NA55	Silent	SNP	ENST00000394773.2	37	c.1743G>C	CCDS8023.2	.	.	.	.	.	.	.	.	.	.	C	8.086	0.773374	0.16051	.	.	ENSG00000149499	ENST00000394776	.	.	.	4.96	4.02	0.46733	.	.	.	.	.	T	0.67636	0.2914	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65651	-0.6116	4	.	.	.	-11.4084	12.9666	0.58488	0.0:0.836:0.164:0.0	.	.	.	.	Q	576	.	.	E	-	1	0	EML3	62129942	0.953000	0.32496	0.998000	0.56505	0.986000	0.74619	0.082000	0.14847	1.039000	0.40074	0.491000	0.48974	GAG		0.612	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313432.1	NM_153265		39	120	0	0	0	1	0	39	120				
ASXL2	55252	broad.mit.edu	37	2	25967008	25967008	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:25967008C>T	ENST00000435504.4	-	13	2491	c.2198G>A	c.(2197-2199)gGa>gAa	p.G733E	ASXL2_ENST00000272341.4_Missense_Mutation_p.G473E|ASXL2_ENST00000336112.4_Missense_Mutation_p.G705E|ASXL2_ENST00000404843.1_Missense_Mutation_p.G473E			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	733	Gly-rich.				adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTTCCAGTTCCTGCCAGTTC	0.592																																						ENST00000435504.4																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33						c.(2197-2199)gGa>gAa		additional sex combs like 2 (Drosophila)							98.0	100.0	99.0					2																	25967008		1999	4178	6177	SO:0001583	missense	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:25967008C>T			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.2198G>A	2.37:g.25967008C>T	ENSP00000391447:p.Gly733Glu					ASXL2_ENST00000272341.4_Missense_Mutation_p.G473E|ASXL2_ENST00000404843.1_Missense_Mutation_p.G473E|ASXL2_ENST00000336112.4_Missense_Mutation_p.G705E	p.G733E			Q76L83	ASXL2_HUMAN			13	2491	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		733			Gly-rich.		Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	ENST00000435504.4	37	c.2198G>A		.	.	.	.	.	.	.	.	.	.	C	19.45	3.829839	0.71258	.	.	ENSG00000143970	ENST00000435504;ENST00000336112;ENST00000404843;ENST00000272341	T;T;T;T	0.18960	2.18;2.18;2.2;2.2	5.84	5.84	0.93424	.	0.207319	0.44097	D	0.000491	T	0.39937	0.1097	L	0.60455	1.87	0.50467	D	0.999876	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	T	0.12218	-1.0556	10	0.02654	T	1	-17.2941	18.7072	0.91643	0.0:1.0:0.0:0.0	.	473;733	Q76L83-2;Q76L83	.;ASXL2_HUMAN	E	733;705;473;473	ENSP00000391447:G733E;ENSP00000337250:G705E;ENSP00000383920:G473E;ENSP00000272341:G473E	ENSP00000272341:G473E	G	-	2	0	ASXL2	25820512	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.131000	0.50515	2.769000	0.95229	0.563000	0.77884	GGA		0.592	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		21	185	0	0	0	1	0	21	185				
ZNF300	91975	broad.mit.edu	37	5	150276465	150276465	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr5:150276465C>T	ENST00000274599.5	-	6	756	c.336G>A	c.(334-336)ctG>ctA	p.L112L	ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000394226.2_Silent_p.L112L|ZNF300_ENST00000446148.2_Silent_p.L128L|ZNF300_ENST00000418587.2_Silent_p.L76L	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	112					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)			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGACTCCTTTCAGTATCTTAT	0.388																																						ENST00000446148.2																			0				endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27						c.(382-384)ctG>ctA		zinc finger protein 300							73.0	69.0	70.0					5																	150276465		2203	4299	6502	SO:0001819	synonymous_variant	91975				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:150276465C>T	AF395541	CCDS4311.2, CCDS54939.1, CCDS54940.1	5q33.1	2013-01-08			ENSG00000145908	ENSG00000145908		"""Zinc fingers, C2H2-type"", ""-"""	13091	protein-coding gene	gene with protein product		612429				14746915	Standard	NM_052860		Approved		uc021yfx.1	Q96RE9	OTTHUMG00000130076	ENST00000274599.5:c.336G>A	5.37:g.150276465C>T						ZNF300_ENST00000394226.2_Silent_p.L112L|ZNF300_ENST00000418587.2_Silent_p.L76L|ZNF300_ENST00000274599.5_Silent_p.L112L|ZNF300_ENST00000427179.1_3'UTR	p.L128L	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	811	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	112					A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	Silent	SNP	ENST00000274599.5	37	c.384G>A	CCDS4311.2																																																																																				0.388	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_052860		15	34	0	0	0	1	0	15	34				
SBNO1	55206	broad.mit.edu	37	12	123810124	123810124	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:123810124G>C	ENST00000602398.1	-	15	2025	c.1898C>G	c.(1897-1899)tCt>tGt	p.S633C	SBNO1_ENST00000267176.4_Missense_Mutation_p.S632C|SBNO1_ENST00000602750.1_Missense_Mutation_p.S632C|SBNO1_ENST00000420886.2_Missense_Mutation_p.S633C			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	633					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TTCTCCTGTAGACTGCAGACC	0.333																																						ENST00000420886.2																			0				NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62						c.(1897-1899)tCt>tGt		strawberry notch homolog 1 (Drosophila)							163.0	171.0	169.0					12																	123810124		2203	4300	6503	SO:0001583	missense	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123810124G>C	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.1898C>G	12.37:g.123810124G>C	ENSP00000473665:p.Ser633Cys					SBNO1_ENST00000267176.4_Missense_Mutation_p.S632C|SBNO1_ENST00000602750.1_Missense_Mutation_p.S632C|SBNO1_ENST00000602398.1_Missense_Mutation_p.S633C	p.S633C	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	14	1897	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		633					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	c.1898C>G	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.798775	0.90538	.	.	ENSG00000139697	ENST00000420886;ENST00000267176;ENST00000442601	T;T	0.36699	1.24;1.24	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.67382	0.2887	M	0.86740	2.835	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.995;0.999;0.995	T	0.73962	-0.3817	10	0.87932	D	0	-15.9057	19.0116	0.92875	0.0:0.0:1.0:0.0	.	633;632;631	A3KN83;A3KN83-2;A3KN83-3	SBNO1_HUMAN;.;.	C	633;632;632	ENSP00000387361:S633C;ENSP00000267176:S632C	ENSP00000267176:S632C	S	-	2	0	SBNO1	122376077	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.795000	0.99099	2.474000	0.83562	0.650000	0.86243	TCT		0.333	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		12	243	0	0	0	1	0	12	243				
EXO5	64789	broad.mit.edu	37	1	40980235	40980235	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:40980235G>C	ENST00000372703.1	+	2	1093	c.19G>C	c.(19-21)Gag>Cag	p.E7Q	RP11-656D10.5_ENST00000453437.1_RNA|EXO5_ENST00000296380.4_Missense_Mutation_p.E7Q|EXO5_ENST00000358527.2_Missense_Mutation_p.E7Q|EXO5_ENST00000471429.1_3'UTR|RP11-656D10.6_ENST00000437060.1_RNA			Q9H790	EXO5_HUMAN	exonuclease 5	7					DNA catabolic process, exonucleolytic (GO:0000738)|interstrand cross-link repair (GO:0036297)	cytosol (GO:0005829)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|single-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008310)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)										GACAAGAGAAGAGGAGACAGT	0.458																																						ENST00000372703.1																			0											c.(19-21)Gag>Cag		exonuclease 5							90.0	100.0	97.0					1																	40980235		2203	4300	6503	SO:0001583	missense	64789							g.chr1:40980235G>C	AK024797	CCDS453.1	1p34.2	2012-11-02	2012-10-30	2012-10-30	ENSG00000164002	ENSG00000164002			26115	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 176"", ""defects in morphology 1 homolog (S. cerevisiae)"""	C1orf176, DEM1		23095756	Standard	NM_022774		Approved	FLJ21144	uc001cfp.3	Q9H790	OTTHUMG00000007305	ENST00000372703.1:c.19G>C	1.37:g.40980235G>C	ENSP00000361788:p.Glu7Gln					EXO5_ENST00000296380.4_Missense_Mutation_p.E7Q|EXO5_ENST00000471429.1_3'UTR|EXO5_ENST00000358527.2_Missense_Mutation_p.E7Q|RP11-656D10.5_ENST00000453437.1_RNA	p.E7Q							2	1093	+								D3DPV4|Q5SWM7|Q5SWM8|Q5SWM9|Q5SWN0|Q5SWN1|Q8WTW9	Missense_Mutation	SNP	ENST00000372703.1	37	c.19G>C	CCDS453.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.772632	0.31411	.	.	ENSG00000164002	ENST00000358527;ENST00000372703;ENST00000420209;ENST00000296380;ENST00000432259;ENST00000418186;ENST00000415550;ENST00000443729;ENST00000419161	T;T;T;T;T;T;T;T	0.55588	1.19;1.19;1.2;1.19;1.19;0.51;1.17;1.17	4.53	3.61	0.41365	.	0.385573	0.22213	N	0.063068	T	0.50034	0.1592	L	0.29908	0.895	0.32365	N	0.556611	D	0.56968	0.978	P	0.55508	0.777	T	0.58329	-0.7655	10	0.44086	T	0.13	-10.7724	8.556	0.33480	0.1032:0.0:0.8968:0.0	.	7	Q9H790	EXO5_HUMAN	Q	7	ENSP00000351328:E7Q;ENSP00000361788:E7Q;ENSP00000398437:E7Q;ENSP00000296380:E7Q;ENSP00000391240:E7Q;ENSP00000413565:E7Q;ENSP00000409715:E7Q;ENSP00000392115:E7Q	ENSP00000296380:E7Q	E	+	1	0	DEM1	40752822	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	2.404000	0.44539	1.506000	0.48736	0.650000	0.86243	GAG		0.458	EXO5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019087.1	NM_022774		11	161	0	0	0	1	0	11	161				
ZNF112	7771	broad.mit.edu	37	19	44833166	44833166	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:44833166C>T	ENST00000337401.4	-	5	1250	c.1162G>A	c.(1162-1164)Gaa>Aaa	p.E388K	ZNF112_ENST00000536500.1_Missense_Mutation_p.E405K|ZNF112_ENST00000354340.4_Missense_Mutation_p.E382K	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	388					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TCCTCATATTCATGGGGTTCA	0.368																																						ENST00000354340.4																			0											c.(1144-1146)Gaa>Aaa		zinc finger protein 112							81.0	76.0	78.0					19																	44833166		2203	4300	6503	SO:0001583	missense	7665							g.chr19:44833166C>T	AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"""Zinc fingers, C2H2-type"""	12892	protein-coding gene	gene with protein product		603994	"""zinc finger protein 112 homolog (mouse)"", ""zinc finger protein 228"""	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.1162G>A	19.37:g.44833166C>T	ENSP00000337081:p.Glu388Lys					ZNF112_ENST00000536500.1_Missense_Mutation_p.E405K|ZNF112_ENST00000337401.4_Missense_Mutation_p.E388K	p.E382K	NM_013380.3	NP_037512.3					4	1195	-								A4FU53|Q9HCA7	Missense_Mutation	SNP	ENST00000337401.4	37	c.1144G>A	CCDS54276.1	.	.	.	.	.	.	.	.	.	.	C	1.505	-0.551112	0.03996	.	.	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	T;T;T	0.06142	3.34;3.36;3.37	4.85	2.72	0.32119	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.226773	0.22527	N	0.058900	T	0.01387	0.0045	N	0.00686	-1.255	0.09310	N	1	B;B;B	0.16802	0.011;0.019;0.011	B;B;B	0.14578	0.005;0.011;0.005	T	0.43458	-0.9390	10	0.09590	T	0.72	-3.1654	1.652	0.02773	0.167:0.4823:0.1625:0.1882	.	387;405;388	B4DYT4;F5GWS7;Q9UJU3	.;.;ZF112_HUMAN	K	388;388;382;405;387	ENSP00000337081:E388K;ENSP00000346305:E382K;ENSP00000441990:E405K	ENSP00000253426:E387K	E	-	1	0	ZNF285	49525006	0.000000	0.05858	0.003000	0.11579	0.750000	0.42670	-1.551000	0.02178	0.738000	0.32606	0.561000	0.74099	GAA		0.368	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380		13	29	0	0	0	1	0	13	29				
TLR4	7099	broad.mit.edu	37	9	120474686	120474686	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:120474686G>A	ENST00000355622.6	+	3	381	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.E54K	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	94					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	CCAGACAATTGAAGATGGGGC	0.388																																						ENST00000355622.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						c.(280-282)Gaa>Aaa		toll-like receptor 4							41.0	41.0	41.0					9																	120474686		2203	4299	6502	SO:0001583	missense	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120474686G>A	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.280G>A	9.37:g.120474686G>A	ENSP00000363089:p.Glu94Lys					TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.E54K	p.E94K	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN			3	381	+			94					A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	c.280G>A	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.474039	0.63737	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.59224	0.31;0.28	5.63	5.63	0.86233	.	0.000000	0.64402	D	0.000003	T	0.64148	0.2572	L	0.41079	1.255	0.54753	D	0.999987	P	0.49253	0.921	P	0.52481	0.7	T	0.66006	-0.6030	10	0.72032	D	0.01	.	19.6898	0.95996	0.0:0.0:1.0:0.0	.	94	O00206	TLR4_HUMAN	K	54;94	ENSP00000377997:E54K;ENSP00000363089:E94K	ENSP00000363089:E94K	E	+	1	0	TLR4	119514507	1.000000	0.71417	0.999000	0.59377	0.058000	0.15608	4.276000	0.58933	2.669000	0.90835	0.655000	0.94253	GAA		0.388	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		19	31	0	0	0	1	0	19	31				
IFRD2	7866	broad.mit.edu	37	3	50326727	50326727	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:50326727C>T	ENST00000429673.2	-	8	1035	c.1036G>A	c.(1036-1038)Gaa>Aaa	p.E346K	IFRD2_ENST00000336089.4_Missense_Mutation_p.E448K|IFRD2_ENST00000436390.1_Missense_Mutation_p.E282K|IFRD2_ENST00000417626.2_Missense_Mutation_p.E282K|IFRD2_ENST00000484043.1_5'Flank			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	346						nucleus (GO:0005634)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GCAATGGTTTCACCGGCAGCG	0.607																																						ENST00000436390.1																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14						c.(844-846)Gaa>Aaa		interferon-related developmental regulator 2							31.0	33.0	32.0					3																	50326727		1983	4167	6150	SO:0001583	missense	7866						binding	g.chr3:50326727C>T	U09585		3p21.3	2008-07-18			ENSG00000214706	ENSG00000214706			5457	protein-coding gene	gene with protein product	"""interferon-related protein"""	602725				9050919	Standard	NM_006764		Approved	SKMc15, SM15, IFNRP	uc011bdp.2	Q12894	OTTHUMG00000156935	ENST00000429673.2:c.1036G>A	3.37:g.50326727C>T	ENSP00000398971:p.Glu346Lys					IFRD2_ENST00000417626.2_Missense_Mutation_p.E282K|IFRD2_ENST00000429673.2_Missense_Mutation_p.E346K|IFRD2_ENST00000336089.4_Missense_Mutation_p.E448K	p.E282K			Q12894	IFRD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	11	1341	-			346					Q9BVB4|Q9UJ88	Missense_Mutation	SNP	ENST00000429673.2	37	c.844G>A	CCDS46831.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.481190	0.84747	.	.	ENSG00000214706	ENST00000417626;ENST00000436390;ENST00000336089;ENST00000429673	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	5.52	5.52	0.82312	Interferon-related developmental regulator, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.82554	0.5062	M	0.89414	3.03	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	D	0.85241	0.1038	10	0.62326	D	0.03	-17.6683	16.9419	0.86220	0.0:1.0:0.0:0.0	.	346;448	Q12894;Q9UJ88	IFRD2_HUMAN;.	K	282;282;448;346	ENSP00000402849:E282K;ENSP00000392316:E282K;ENSP00000336936:E448K;ENSP00000398971:E346K	ENSP00000336936:E448K	E	-	1	0	IFRD2	50301731	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	5.359000	0.66074	2.617000	0.88574	0.655000	0.94253	GAA		0.607	IFRD2-202	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_006764		6	4	0	0	0	1	0	6	4				
IL12A-AS1	101928376	broad.mit.edu	37	3	159820080	159820080	+	RNA	SNP	G	G	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:159820080G>T	ENST00000497452.1	-	0	517									IL12A antisense RNA 1																		GCCTGAAGATGAAGGCCATAC	0.433																																						ENST00000497452.1																			0																																																			101928376							g.chr3:159820080G>T	AK097161		3q25.33	2013-09-02			ENSG00000244040	ENSG00000244040		"""Long non-coding RNAs"""	49094	non-coding RNA	RNA, long non-coding							Standard	NR_108088		Approved				OTTHUMG00000158951		3.37:g.159820080G>T														0	517	-									RNA	SNP	ENST00000497452.1	37																																																																																						0.433	IL12A-AS1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000352647.1			81	65	1	0	3.33186e-49	1	3.53585e-49	81	65				
CREBBP	1387	broad.mit.edu	37	16	3820792	3820792	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:3820792G>A	ENST00000262367.5	-	14	3468	c.2659C>T	c.(2659-2661)Cag>Tag	p.Q887*	CREBBP_ENST00000382070.3_Nonsense_Mutation_p.Q849*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	887					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|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)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.Q887*(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GTTGATGGCTGAGTGGGAGCT	0.642			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"""T, N, F, Mis, O"""	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"""MLL, MORF, RUNXBP2"""		"""ALL, AML, DLBCL, B-NHL """		1	Substitution - Nonsense(1)	p.Q887*(1)	urinary_tract(1)	NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(2659-2661)Cag>Tag		CREB binding protein							83.0	73.0	76.0					16																	3820792		2197	4300	6497	SO:0001587	stop_gained	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3820792G>A	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.2659C>T	16.37:g.3820792G>A	ENSP00000262367:p.Gln887*					CREBBP_ENST00000382070.3_Nonsense_Mutation_p.Q849*	p.Q887*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	14	3468	-		Ovarian(90;0.0266)	887					D3DUC9|O00147|Q16376|Q4LE28	Nonsense_Mutation	SNP	ENST00000262367.5	37	c.2659C>T	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	G	48	14.488944	0.99798	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	.	.	.	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-14.0335	16.4308	0.83841	0.0:0.1312:0.8688:0.0	.	.	.	.	X	887;917;849	.	ENSP00000262367:Q887X	Q	-	1	0	CREBBP	3760793	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	6.943000	0.75934	2.840000	0.97914	0.655000	0.94253	CAG		0.642	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		6	115	0	0	0	1	0	6	115				
C1QTNF9B	387911	broad.mit.edu	37	13	24465865	24465865	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr13:24465865C>G	ENST00000382140.2	-	5	625	c.565G>C	c.(565-567)Gag>Cag	p.E189Q	C1QTNF9B_ENST00000382137.3_Missense_Mutation_p.E189Q|C1QTNF9B-AS1_ENST00000382133.4_RNA|MIPEP_ENST00000382172.3_5'Flank|C1QTNF9B-AS1_ENST00000417034.1_RNA|MIPEP_ENST00000469167.1_5'Flank|C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B_ENST00000382145.1_Intron|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B_ENST00000382057.3_Intron			B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	189	Collagen-like 3.					collagen trimer (GO:0005581)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						TTCCCTTTCTCTCCTCGATCT	0.547																																						ENST00000382137.3																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						c.(565-567)Gag>Cag		C1q and tumor necrosis factor related protein 9B							46.0	51.0	49.0					13																	24465865		2202	4279	6481	SO:0001583	missense	387911					collagen		g.chr13:24465865C>G	BC110413	CCDS31947.1	13q12.12	2011-05-08			ENSG00000205863	ENSG00000205863			34072	protein-coding gene	gene with protein product		614148				17544811	Standard	NM_001007537		Approved	CTRP9B	uc010tcv.1	B2RNN3	OTTHUMG00000016570	ENST00000382140.2:c.565G>C	13.37:g.24465865C>G	ENSP00000371575:p.Glu189Gln					C1QTNF9B_ENST00000382057.3_Intron|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000382145.1_Intron|C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B_ENST00000382140.2_Missense_Mutation_p.E189Q	p.E189Q	NM_001007537.1	NP_001007538.1	B2RNN3	C1T9B_HUMAN			3	633	-			189			Collagen-like 3.		A2A3T6|B9EH31|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Missense_Mutation	SNP	ENST00000382140.2	37	c.565G>C	CCDS31947.1	.	.	.	.	.	.	.	.	.	.	c	13.25	2.179723	0.38511	.	.	ENSG00000205863	ENST00000382137;ENST00000382140	D;D	0.84223	-1.82;-1.82	4.26	4.26	0.50523	.	0.290731	0.38548	N	0.001655	D	0.82857	0.5128	L	0.39898	1.24	0.80722	D	1	D	0.54397	0.966	P	0.49012	0.598	T	0.80082	-0.1531	10	0.15952	T	0.53	.	16.7528	0.85490	0.0:1.0:0.0:0.0	.	189	B2RNN3	C1T9B_HUMAN	Q	189	ENSP00000371572:E189Q;ENSP00000371575:E189Q	ENSP00000371572:E189Q	E	-	1	0	C1QTNF9B	23363865	0.980000	0.34600	0.998000	0.56505	0.852000	0.48524	3.230000	0.51286	1.950000	0.56595	0.456000	0.33151	GAG		0.547	C1QTNF9B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044162.3	NM_001007537		5	48	0	0	0	1	0	5	48				
RGL2	5863	broad.mit.edu	37	6	33263456	33263456	+	Silent	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:33263456G>C	ENST00000497454.1	-	7	1344	c.849C>G	c.(847-849)ctC>ctG	p.L283L	RGL2_ENST00000437840.2_5'UTR|RGL2_ENST00000444031.2_Silent_p.L201L|PFDN6_ENST00000463584.1_Intron	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	283	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						CAGATGGGCAGAGGTGAGAAT	0.572																																						ENST00000497454.1																			0				breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						c.(847-849)ctC>ctG		ral guanine nucleotide dissociation stimulator-like 2							51.0	53.0	52.0					6																	33263456		2203	4300	6503	SO:0001819	synonymous_variant	5863				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr6:33263456G>C		CCDS4774.1	6p21.3	2010-02-17	2004-06-11	2004-06-16	ENSG00000237441	ENSG00000237441			9769	protein-coding gene	gene with protein product		602306	"""RAB2, member RAS oncogene family-like"""	RAB2L		8976381	Standard	NM_001243738		Approved	KE1.5, HKE1.5	uc003odv.3	O15211	OTTHUMG00000031072	ENST00000497454.1:c.849C>G	6.37:g.33263456G>C						RGL2_ENST00000444031.2_Silent_p.L201L|PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000437840.2_5'UTR	p.L283L	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN			7	1344	-			283			Ras-GEF.		B4DG72|Q5STK0|Q9Y3F3	Silent	SNP	ENST00000497454.1	37	c.849C>G	CCDS4774.1																																																																																				0.572	RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076098.2			26	66	0	0	0	1	0	26	66				
FAT2	2196	broad.mit.edu	37	5	150922984	150922984	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr5:150922984G>A	ENST00000261800.5	-	9	7716	c.7704C>T	c.(7702-7704)ttC>ttT	p.F2568F		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2568	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCACCGTGCAGAAGGCTACTC	0.463																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(7702-7704)ttC>ttT		FAT atypical cadherin 2							160.0	163.0	162.0					5																	150922984		2203	4300	6503	SO:0001819	synonymous_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150922984G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.7704C>T	5.37:g.150922984G>A							p.F2568F	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	7716	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	2568			Cadherin 22.		O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	c.7704C>T	CCDS4317.1																																																																																				0.463	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		89	64	0	0	0	1	0	89	64				
DSC1	1823	broad.mit.edu	37	18	28720088	28720088	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr18:28720088C>G	ENST00000257198.5	-	10	1698	c.1437G>C	c.(1435-1437)caG>caC	p.Q479H	DSC1_ENST00000257197.3_Missense_Mutation_p.Q479H|RP11-408H20.2_ENST00000581836.1_RNA	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	479	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CATCTTGACTCTGAATAACTT	0.463																																						ENST00000257197.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(1435-1437)caG>caC		desmocollin 1							95.0	95.0	95.0					18																	28720088		2203	4300	6503	SO:0001583	missense	1823				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	g.chr18:28720088C>G	AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"""Cadherins / Major cadherins"""	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.1437G>C	18.37:g.28720088C>G	ENSP00000257198:p.Gln479His					DSC1_ENST00000257198.5_Missense_Mutation_p.Q479H|RP11-408H20.2_ENST00000581836.1_RNA	p.Q479H	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00778)		10	1698	-			479			Cadherin 4.		Q9HB01	Missense_Mutation	SNP	ENST00000257198.5	37	c.1437G>C	CCDS11894.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.254245	0.39896	.	.	ENSG00000134765	ENST00000257197;ENST00000257198	T;T	0.60920	0.15;0.15	5.83	4.03	0.46877	Cadherin (2);Cadherin-like (1);	0.130904	0.34828	N	0.003643	T	0.61299	0.2336	L	0.41415	1.275	0.09310	N	0.999999	D;D	0.58970	0.984;0.984	P;D	0.64237	0.876;0.923	T	0.51694	-0.8673	10	0.59425	D	0.04	.	6.895	0.24251	0.1391:0.711:0.0:0.1499	.	479;479	Q08554;Q9HB00	DSC1_HUMAN;.	H	479	ENSP00000257197:Q479H;ENSP00000257198:Q479H	ENSP00000257197:Q479H	Q	-	3	2	DSC1	26974086	0.138000	0.22547	0.999000	0.59377	0.576000	0.36127	-0.249000	0.08842	1.472000	0.48140	0.650000	0.86243	CAG		0.463	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421		39	74	0	0	0	1	0	39	74				
CELA3A	10136	broad.mit.edu	37	1	22332233	22332233	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:22332233C>G	ENST00000290122.3	+	4	325	c.306C>G	c.(304-306)atC>atG	p.I102M	RN7SL768P_ENST00000584415.1_RNA|CELA3A_ENST00000374663.1_Missense_Mutation_p.I102M	NM_005747.4	NP_005738.4	P09093	CEL3A_HUMAN	chymotrypsin-like elastase family, member 3A	102	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cholesterol metabolic process (GO:0008203)|digestion (GO:0007586)|proteolysis (GO:0006508)		serine-type endopeptidase activity (GO:0004252)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TGATCCCCATCAACTCTGAGG	0.592											OREG0013211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000290122.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(304-306)atC>atG		chymotrypsin-like elastase family, member 3A							130.0	113.0	119.0					1																	22332233		2197	4300	6497	SO:0001583	missense	10136							g.chr1:22332233C>G	D00306	CCDS220.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000142789	ENSG00000142789			15944	protein-coding gene	gene with protein product	"""protease E"""		"""elastase 3A, pancreatic (protease E)"", ""elastase 3A, pancreatic"""	ELA3A		2826474, 2460440	Standard	NM_005747		Approved	ELA3		P09093	OTTHUMG00000002755	ENST00000290122.3:c.306C>G	1.37:g.22332233C>G	ENSP00000290122:p.Ile102Met		OREG0013211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	755	CELA3A_ENST00000374663.1_Missense_Mutation_p.I102M	p.I102M	NM_005747.4	NP_005738.4					4	325	+								B1AQ53|Q9BRW4	Missense_Mutation	SNP	ENST00000290122.3	37	c.306C>G	CCDS220.1	.	.	.	.	.	.	.	.	.	.	C	12.16	1.855181	0.32791	.	.	ENSG00000142789	ENST00000290122;ENST00000374663;ENST00000374661	D;D	0.93953	-2.56;-3.32	3.68	3.68	0.42216	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.95389	0.8503	M	0.77103	2.36	0.36559	D	0.87229	D;P	0.63880	0.993;0.846	D;P	0.69479	0.964;0.905	D	0.95886	0.8903	9	0.72032	D	0.01	-10.9567	6.9713	0.24650	0.0:0.875:0.0:0.125	.	102;102	B1AQ52;P09093	.;CEL3A_HUMAN	M	102;102;118	ENSP00000290122:I102M;ENSP00000363795:I102M	ENSP00000290122:I102M	I	+	3	3	CELA3A	22204820	0.984000	0.35163	0.986000	0.45419	0.434000	0.31775	0.517000	0.22832	1.886000	0.54624	0.400000	0.26472	ATC		0.592	CELA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007791.1	NM_005747		54	107	0	0	0	1	0	54	107				
GAD1	2571	broad.mit.edu	37	2	171687552	171687552	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:171687552G>C	ENST00000358196.3	+	5	947	c.397G>C	c.(397-399)Gat>Cat	p.D133H	GAD1_ENST00000344257.5_Missense_Mutation_p.D133H|GAD1_ENST00000375272.1_Missense_Mutation_p.D133H|GAD1_ENST00000429023.1_3'UTR	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	133					gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						CAAGACATTTGATCGCTCCAC	0.537																																						ENST00000358196.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						c.(397-399)Gat>Cat		glutamate decarboxylase 1 (brain, 67kDa)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						112.0	96.0	101.0					2																	171687552		2203	4300	6503	SO:0001583	missense	2571				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr2:171687552G>C		CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"""glutamate decarboxylase 1 (brain, 67kD)"""	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.397G>C	2.37:g.171687552G>C	ENSP00000350928:p.Asp133His					GAD1_ENST00000429023.1_3'UTR|GAD1_ENST00000375272.1_Missense_Mutation_p.D133H|GAD1_ENST00000344257.5_Missense_Mutation_p.D133H	p.D133H	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN			5	947	+			133					Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Missense_Mutation	SNP	ENST00000358196.3	37	c.397G>C	CCDS2239.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.989280	0.93106	.	.	ENSG00000128683	ENST00000358196;ENST00000375272;ENST00000344257	T;T;T	0.39787	1.06;1.06;1.06	5.9	5.9	0.94986	Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.67702	0.2921	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	0.993;1.0	P;D	0.68765	0.739;0.96	T	0.69503	-0.5128	10	0.87932	D	0	-20.93	20.2673	0.98463	0.0:0.0:1.0:0.0	.	133;133	Q99259;Q99259-3	DCE1_HUMAN;.	H	133	ENSP00000350928:D133H;ENSP00000364421:D133H;ENSP00000341167:D133H	ENSP00000341167:D133H	D	+	1	0	GAD1	171395798	1.000000	0.71417	0.941000	0.38009	0.986000	0.74619	9.476000	0.97823	2.786000	0.95864	0.643000	0.83706	GAT		0.537	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2			46	57	0	0	0	1	0	46	57				
KIF22	3835	broad.mit.edu	37	16	29808239	29808239	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:29808239G>C	ENST00000160827.4	+	2	136	c.96G>C	c.(94-96)aaG>aaC	p.K32N	KIF22_ENST00000561482.1_5'UTR|KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000400751.5_5'UTR|KIF22_ENST00000569382.2_5'UTR	NM_001256269.1|NM_007317.2	NP_001243198.1|NP_015556.1	Q14807	KIF22_HUMAN	kinesin family member 22	32					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA repair (GO:0006281)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						GGCTAAGCAAGATTGGAGCTA	0.567																																						ENST00000160827.4																			0				endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						c.(94-96)aaG>aaC		kinesin family member 22							104.0	101.0	102.0					16																	29808239		2197	4296	6493	SO:0001583	missense	3835				blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding	g.chr16:29808239G>C	D38751	CCDS10653.1, CCDS58444.1	16p11.2	2008-03-03	2003-01-09	2003-01-10	ENSG00000079616	ENSG00000079616		"""Kinesins"""	6391	protein-coding gene	gene with protein product		603213	"""kinesin-like 4"""	KNSL4		8599929, 11416179	Standard	NM_007317		Approved	Kid, OBP-1, OBP-2	uc002dts.4	Q14807	OTTHUMG00000097771	ENST00000160827.4:c.96G>C	16.37:g.29808239G>C	ENSP00000160827:p.Lys32Asn					KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000561482.1_5'UTR|KIF22_ENST00000400751.5_5'UTR|KIF22_ENST00000569382.2_5'UTR	p.K32N	NM_001256269.1|NM_007317.2	NP_001243198.1|NP_015556.1	Q14807	KIF22_HUMAN			2	136	+			32					B2R5M0|B7Z265|O60845|O94814|Q53F58|Q9BT46	Missense_Mutation	SNP	ENST00000160827.4	37	c.96G>C	CCDS10653.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.979207	0.53827	.	.	ENSG00000079616	ENST00000160827	T	0.73681	-0.77	5.56	3.53	0.40419	.	.	.	.	.	T	0.64649	0.2617	N	0.08118	0	0.80722	D	1	D	0.62365	0.991	P	0.55667	0.781	T	0.65780	-0.6085	9	0.44086	T	0.13	.	9.4671	0.38820	0.1767:0.0:0.8233:0.0	.	32	Q14807	KIF22_HUMAN	N	32	ENSP00000160827:K32N	ENSP00000160827:K32N	K	+	3	2	KIF22	29715740	0.942000	0.31987	0.890000	0.34922	0.536000	0.34869	1.261000	0.32980	1.451000	0.47736	0.655000	0.94253	AAG		0.567	KIF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215012.2			9	170	0	0	0	1	0	9	170				
TRMU	55687	broad.mit.edu	37	22	46746283	46746283	+	Silent	SNP	C	C	T	rs149815191		TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr22:46746283C>T	ENST00000290846.4	+	5	914	c.574C>T	c.(574-576)Ctg>Ttg	p.L192L	TRMU_ENST00000424260.2_3'UTR|TRMU_ENST00000381019.3_Silent_p.L192L	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase	192					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|sulfurtransferase activity (GO:0016783)|tRNA binding (GO:0000049)			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		CATCTTCCCTCTGGGGGGATT	0.488																																						ENST00000290846.4																			0				NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10						c.(574-576)Ctg>Ttg		tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase							83.0	91.0	88.0					22																	46746283		2203	4300	6503	SO:0001819	synonymous_variant	55687					mitochondrion	ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding	g.chr22:46746283C>T	AY062123	CCDS14075.1, CCDS63510.1	22q13	2005-08-11	2005-08-11	2005-08-11	ENSG00000100416	ENSG00000100416	2.1.1.61		25481	protein-coding gene	gene with protein product		610230	"""tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase """	TRMT		14746906	Standard	XM_005261678		Approved	FLJ10140, MTO2	uc003bhp.3	O75648	OTTHUMG00000150424	ENST00000290846.4:c.574C>T	22.37:g.46746283C>T						TRMU_ENST00000381019.3_Silent_p.L192L|TRMU_ENST00000424260.2_3'UTR	p.L192L	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)	5	914	+		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)	192					A8K3U7|Q05C99|Q5W9C8|Q66K31|Q6ICC3|Q9NWC1	Silent	SNP	ENST00000290846.4	37	c.574C>T	CCDS14075.1																																																																																				0.488	TRMU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318042.2	NM_018006		98	103	0	0	0	1	0	98	103				
GLIS3	169792	broad.mit.edu	37	9	3879431	3879431	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:3879431C>G	ENST00000324333.10	-	7	2021	c.1828G>C	c.(1828-1830)Gag>Cag	p.E610Q	GLIS3_ENST00000461870.1_5'UTR|RP11-252M18.3_ENST00000422150.1_RNA|GLIS3_ENST00000381971.3_Missense_Mutation_p.E765Q	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	610					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		CCTTACCTCTCAGCTCCTGCG	0.517																																						ENST00000324333.10																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26						c.(1828-1830)Gag>Cag		GLIS family zinc finger 3							106.0	100.0	102.0					9																	3879431		2203	4300	6503	SO:0001583	missense	169792				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding	g.chr9:3879431C>G	BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"""Zinc fingers, C2H2-type"""	28510	protein-coding gene	gene with protein product		610192	"""zinc finger protein 515"""	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.1828G>C	9.37:g.3879431C>G	ENSP00000325494:p.Glu610Gln					GLIS3_ENST00000381971.3_Missense_Mutation_p.E765Q|GLIS3_ENST00000461870.1_5'UTR	p.E610Q	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)	7	2021	-		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)	610					B1AL19|Q1PHK5	Missense_Mutation	SNP	ENST00000324333.10	37	c.1828G>C	CCDS6451.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.628160	0.66901	.	.	ENSG00000107249	ENST00000324333;ENST00000381971	T;T	0.59224	0.28;0.28	5.77	5.77	0.91146	.	0.232232	0.28343	N	0.015684	T	0.62073	0.2398	L	0.27053	0.805	0.29349	N	0.865446	D;B;P;P	0.56287	0.975;0.421;0.763;0.935	P;B;B;P	0.56343	0.796;0.116;0.293;0.575	T	0.61287	-0.7093	10	0.59425	D	0.04	.	18.7574	0.91837	0.0:1.0:0.0:0.0	.	205;278;765;610	Q59FQ6;Q1PHK3;Q8NEA6-2;Q8NEA6	.;.;.;GLIS3_HUMAN	Q	610;765	ENSP00000325494:E610Q;ENSP00000371398:E765Q	ENSP00000325494:E610Q	E	-	1	0	GLIS3	3869431	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.423000	0.52756	2.729000	0.93468	0.655000	0.94253	GAG		0.517	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	NM_152629		47	58	0	0	0	1	0	47	58				
SBF2	81846	broad.mit.edu	37	11	10013999	10013999	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:10013999C>G	ENST00000256190.8	-	12	1396	c.1259G>C	c.(1258-1260)aGa>aCa	p.R420T	SBF2_ENST00000527019.1_5'Flank	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	420	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		AGGAGGACCTCTTTCTGAAAC	0.368																																						ENST00000256190.8																			0				breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(1258-1260)aGa>aCa		SET binding factor 2							71.0	65.0	67.0					11																	10013999		2201	4294	6495	SO:0001583	missense	81846				myelination	cytoplasm|membrane	phosphatase activity|protein binding	g.chr11:10013999C>G	AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.1259G>C	11.37:g.10013999C>G	ENSP00000256190:p.Arg420Thr						p.R420T	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN		all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)	12	1396	-			420			dDENN.		Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	ENST00000256190.8	37	c.1259G>C	CCDS31427.1	.	.	.	.	.	.	.	.	.	.	C	32	5.106891	0.94292	.	.	ENSG00000133812	ENST00000256190	T	0.55588	0.51	5.58	5.58	0.84498	dDENN (3);	0.000000	0.85682	D	0.000000	T	0.74199	0.3685	M	0.73962	2.25	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.76537	-0.2923	10	0.87932	D	0	.	19.5779	0.95452	0.0:1.0:0.0:0.0	.	420	Q86WG5	MTMRD_HUMAN	T	420	ENSP00000256190:R420T	ENSP00000256190:R420T	R	-	2	0	SBF2	9970575	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.792000	0.85828	2.621000	0.88768	0.563000	0.77884	AGA		0.368	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962		7	32	0	0	0	1	0	7	32				
HNRNPDL	9987	broad.mit.edu	37	4	83350589	83350589	+	Silent	SNP	G	G	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:83350589G>T	ENST00000295470.5	-	1	430	c.255C>A	c.(253-255)ctC>ctA	p.L85L	ENOPH1_ENST00000509635.1_5'Flank|HNRNPDL_ENST00000502762.1_Silent_p.L85L|ENOPH1_ENST00000273920.3_5'Flank|HNRNPDL_ENST00000602300.1_5'UTR|HNRNPDL_ENST00000514511.1_5'Flank|HNRNPDL_ENST00000349655.4_5'UTR	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1	O14979	HNRDL_HUMAN	heterogeneous nuclear ribonucleoprotein D-like	85					regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|single-stranded DNA binding (GO:0003697)										GGCGGCGGAAGAGATCCGGGC	0.731																																						ENST00000295470.5																			0											c.(253-255)ctC>ctA		heterogeneous nuclear ribonucleoprotein D-like							18.0	23.0	22.0					4																	83350589		2190	4293	6483	SO:0001819	synonymous_variant	9987							g.chr4:83350589G>T	D89092	CCDS3593.1, CCDS75153.1	4q21.22	2013-06-12		2013-06-12	ENSG00000152795	ENSG00000152795		"""RNA binding motif (RRM) containing"""	5037	protein-coding gene	gene with protein product		607137		HNRPDL		10072754, 9524220	Standard	NM_001207000		Approved	JKTBP, laAUF1	uc003hmr.3	O14979	OTTHUMG00000130299	ENST00000295470.5:c.255C>A	4.37:g.83350589G>T						HNRNPDL_ENST00000602300.1_5'UTR|HNRNPDL_ENST00000502762.1_Silent_p.L85L|HNRNPDL_ENST00000349655.4_5'UTR	p.L85L	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1					1	430	-								Q6SPF2|Q7KZ74|Q7KZ75|Q96IM0|Q96S43	Silent	SNP	ENST00000295470.5	37	c.255C>A	CCDS3593.1																																																																																				0.731	HNRNPDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252644.1	NM_005463		22	21	1	0	2.37509e-13	1	2.45226e-13	22	21				
NR3C2	4306	broad.mit.edu	37	4	149356742	149356742	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:149356742G>A	ENST00000358102.3	-	2	1633	c.1271C>T	c.(1270-1272)tCa>tTa	p.S424L	NR3C2_ENST00000355292.3_Missense_Mutation_p.S424L|NR3C2_ENST00000511528.1_Missense_Mutation_p.S424L|NR3C2_ENST00000344721.4_Missense_Mutation_p.S424L|NR3C2_ENST00000512865.1_Missense_Mutation_p.S424L	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	424	Modulating.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	TATTGGTACTGAGAATGAAGA	0.388																																					Melanoma(27;428 957 40335 51025 51111)	ENST00000355292.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(1270-1272)tCa>tTa		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						83.0	85.0	84.0					4																	149356742		2203	4300	6503	SO:0001583	missense	4306				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149356742G>A	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.1271C>T	4.37:g.149356742G>A	ENSP00000350815:p.Ser424Leu					NR3C2_ENST00000358102.3_Missense_Mutation_p.S424L|NR3C2_ENST00000344721.4_Missense_Mutation_p.S424L|NR3C2_ENST00000512865.1_Missense_Mutation_p.S424L|NR3C2_ENST00000511528.1_Missense_Mutation_p.S424L|NR3C2_ENST00000342437.4_Missense_Mutation_p.S424L	p.S424L			P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	2	1633	-	all_hematologic(180;0.151)		424			Modulating.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Missense_Mutation	SNP	ENST00000358102.3	37	c.1271C>T	CCDS3772.1	.	.	.	.	.	.	.	.	.	.	G	6.288	0.421175	0.11928	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000512865;ENST00000544252;ENST00000342437;ENST00000511528	D;D;D;D;D;D	0.90385	-2.65;-2.66;-2.65;-2.24;-2.24;-2.66	5.16	5.16	0.70880	.	0.060338	0.64402	D	0.000002	D	0.87513	0.6196	N	0.24115	0.695	0.42614	D	0.993321	P;D	0.53151	0.493;0.958	B;P	0.47528	0.107;0.549	D	0.86680	0.1916	9	.	.	.	.	19.009	0.92865	0.0:0.0:1.0:0.0	.	424;424	B0ZBF5;B0ZBF6	.;.	L	424	ENSP00000341390:S424L;ENSP00000347441:S424L;ENSP00000350815:S424L;ENSP00000423510:S424L;ENSP00000343907:S424L;ENSP00000421481:S424L	.	S	-	2	0	NR3C2	149576192	1.000000	0.71417	0.996000	0.52242	0.392000	0.30506	7.030000	0.76484	2.564000	0.86499	0.655000	0.94253	TCA		0.388	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			8	97	0	0	0	1	0	8	97				
ZNF197	10168	broad.mit.edu	37	3	44684748	44684748	+	Missense_Mutation	SNP	G	G	A	rs376663334		TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:44684748G>A	ENST00000396058.1	+	5	2293	c.2126G>A	c.(2125-2127)cGa>cAa	p.R709Q	RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383745.2_Intron|ZNF197_ENST00000383744.4_Intron|ZNF197_ENST00000344387.4_Missense_Mutation_p.R709Q			O14709	ZN197_HUMAN	zinc finger protein 197	709					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		TATGAATGTCGAGAGTGTGGG	0.408																																						ENST00000396058.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						c.(2125-2127)cGa>cAa		zinc finger protein 197							76.0	83.0	80.0					3																	44684748		2198	4298	6496	SO:0001583	missense	10168				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44684748G>A	AF011573	CCDS2717.1, CCDS33743.1	3p21	2013-01-09	2003-10-07		ENSG00000186448	ENSG00000186448		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12988	protein-coding gene	gene with protein product			"""zinc finger protein 166"""	ZNF166		9380504, 8353497	Standard	XM_005264783		Approved	P18, D3S1363E, ZKSCAN9, ZSCAN41	uc003cnm.3	O14709	OTTHUMG00000133089	ENST00000396058.1:c.2126G>A	3.37:g.44684748G>A	ENSP00000379370:p.Arg709Gln					ZNF197_ENST00000344387.4_Missense_Mutation_p.R709Q|ZNF197_ENST00000383745.2_Intron|ZNF197_ENST00000383744.4_Intron|RP11-944L7.4_ENST00000457331.1_RNA	p.R709Q			O14709	ZN197_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)	5	2293	+			709					B2RAH8|Q86VG0	Missense_Mutation	SNP	ENST00000396058.1	37	c.2126G>A	CCDS2717.1	.	.	.	.	.	.	.	.	.	.	-	3.241	-0.155320	0.06544	.	.	ENSG00000186448	ENST00000344387;ENST00000396058	T;T	0.14391	2.51;2.51	4.39	-0.859	0.10685	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.613210	0.04563	N	0.391946	T	0.05593	0.0147	N	0.03903	-0.33	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.33979	-0.9847	10	0.39692	T	0.17	.	1.5604	0.02593	0.2896:0.2414:0.3465:0.1226	.	709	O14709	ZN197_HUMAN	Q	709	ENSP00000345809:R709Q;ENSP00000379370:R709Q	ENSP00000345809:R709Q	R	+	2	0	ZNF197	44659752	0.000000	0.05858	0.687000	0.30102	0.381000	0.30169	-1.303000	0.02743	-0.289000	0.09038	-1.151000	0.01829	CGA		0.408	ZNF197-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256747.4	NM_006991		43	75	0	0	0	1	0	43	75				
ZNF668	79759	broad.mit.edu	37	16	31073425	31073425	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:31073425G>A	ENST00000538906.1	-	3	1608	c.824C>T	c.(823-825)tCg>tTg	p.S275L	ZNF668_ENST00000426488.2_Missense_Mutation_p.S298L|ZNF668_ENST00000417110.2_Missense_Mutation_p.E205K|ZNF668_ENST00000564456.1_5'Flank|ZNF668_ENST00000535577.1_Missense_Mutation_p.S275L|ZNF668_ENST00000539836.3_Missense_Mutation_p.S298L|ZNF668_ENST00000300849.4_Missense_Mutation_p.S275L|ZNF668_ENST00000394983.2_Missense_Mutation_p.S275L	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	275					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(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CTTCTCCCCCGAGTGCGTGCG	0.687																																					Colon(181;1111 1980 5060 10512 25785)	ENST00000538906.1																			0				breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(823-825)tCg>tTg		zinc finger protein 668							39.0	42.0	41.0					16																	31073425		2197	4297	6494	SO:0001583	missense	79759				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31073425G>A		CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"""Zinc fingers, C2H2-type"""	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.824C>T	16.37:g.31073425G>A	ENSP00000440149:p.Ser275Leu					ZNF668_ENST00000539836.3_Missense_Mutation_p.S298L|ZNF668_ENST00000426488.2_Missense_Mutation_p.S298L|ZNF668_ENST00000535577.1_Missense_Mutation_p.S275L|ZNF668_ENST00000394983.2_Missense_Mutation_p.S275L|ZNF668_ENST00000417110.2_Missense_Mutation_p.E205K|ZNF668_ENST00000300849.4_Missense_Mutation_p.S275L	p.S275L	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN			3	1608	-			275					C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Missense_Mutation	SNP	ENST00000538906.1	37	c.824C>T	CCDS10701.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.6|24.6	4.552641|4.552641	0.86127|0.86127	.|.	.|.	ENSG00000232748|ENSG00000167394	ENST00000417110|ENST00000539836;ENST00000535577;ENST00000538906;ENST00000394983;ENST00000300849	.|T;T;T;T;T	.|0.18960	.|2.18;2.18;2.18;2.18;2.18	5.02|5.02	5.02|5.02	0.67125|0.67125	.|Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.38799|0.38799	0.1054|0.1054	L|L	0.41415|0.41415	1.275|1.275	0.58432|0.58432	D|D	0.999999|0.999999	.|D	.|0.89917	.|1.0	.|D	.|0.72982	.|0.979	T|T	0.15263|0.15263	-1.0443|-1.0443	6|10	0.87932|0.87932	D|D	0|0	-14.9713|-14.9713	17.2644|17.2644	0.87081|0.87081	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|275	.|Q96K58	.|ZN668_HUMAN	K|L	205|298;275;275;275;275	.|ENSP00000442573:S298L;ENSP00000441349:S275L;ENSP00000440149:S275L;ENSP00000378434:S275L;ENSP00000300849:S275L	ENSP00000391989:E205K|ENSP00000300849:S275L	E|S	+|-	1|2	0|0	AC135050.1|ZNF668	30980926|30980926	1.000000|1.000000	0.71417|0.71417	0.942000|0.942000	0.38095|0.38095	0.358000|0.358000	0.29455|0.29455	7.813000|7.813000	0.86123|0.86123	2.584000|2.584000	0.87258|0.87258	0.655000|0.655000	0.94253|0.94253	GAG|TCG		0.687	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2	NM_024706		26	69	0	0	0	1	0	26	69				
MXRA5	25878	broad.mit.edu	37	X	3228540	3228540	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chrX:3228540C>T	ENST00000217939.6	-	7	7858	c.7704G>A	c.(7702-7704)ggG>ggA	p.G2568G		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2568	Ig-like C2-type 10.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTGTCGGGGTCCCCGCGGCAG	0.627																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(7702-7704)ggG>ggA		matrix-remodelling associated 5							24.0	23.0	23.0					X																	3228540		2201	4298	6499	SO:0001819	synonymous_variant	25878					extracellular region		g.chrX:3228540C>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.7704G>A	X.37:g.3228540C>T							p.G2568G	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			7	7858	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2568			Ig-like C2-type 10.		Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	37	c.7704G>A	CCDS14124.1																																																																																				0.627	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		16	2	0	0	0	1	0	16	2				
PACSIN3	29763	broad.mit.edu	37	11	47199930	47199930	+	Silent	SNP	C	C	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:47199930C>A	ENST00000539589.1	-	10	1488	c.1146G>T	c.(1144-1146)ctG>ctT	p.L382L	ARFGAP2_ENST00000395449.3_5'Flank|ARFGAP2_ENST00000426335.2_5'Flank|ARFGAP2_ENST00000524782.1_5'Flank|PACSIN3_ENST00000298838.6_Silent_p.L382L|ARFGAP2_ENST00000419701.2_5'Flank|ARFGAP2_ENST00000319543.6_5'Flank	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in neurons 3	382	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endocytosis (GO:0045806)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|cytoskeletal protein binding (GO:0008092)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						CTCGGAAGCTCAGCTCATCAG	0.582																																						ENST00000539589.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						c.(1144-1146)ctG>ctT		protein kinase C and casein kinase substrate in neurons 3							98.0	87.0	91.0					11																	47199930		2201	4298	6499	SO:0001819	synonymous_variant	29763				endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding	g.chr11:47199930C>A	AF130979	CCDS31481.1	11p12-p11	2008-02-05				ENSG00000165912			8572	protein-coding gene	gene with protein product	"""syndapin III"""	606513				10531379	Standard	NM_016223		Approved	SDPIII	uc001ndx.3	Q9UKS6		ENST00000539589.1:c.1146G>T	11.37:g.47199930C>A						PACSIN3_ENST00000298838.6_Silent_p.L382L	p.L382L	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN			10	1488	-			382			SH3.		A6NH84|Q9H331|Q9NWV9	Silent	SNP	ENST00000539589.1	37	c.1146G>T	CCDS31481.1																																																																																				0.582	PACSIN3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391632.1	NM_016223		42	87	1	0	9.84934e-19	1	1.03373e-18	42	87				
USP34	9736	broad.mit.edu	37	2	61632948	61632948	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:61632948C>G	ENST00000398571.2	-	3	523	c.447G>C	c.(445-447)tgG>tgC	p.W149C		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	149					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CATCTGTACTCCATAAACTAA	0.318																																						ENST00000398571.2																			0				autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(445-447)tgG>tgC		ubiquitin specific peptidase 34							96.0	86.0	89.0					2																	61632948		1805	4075	5880	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61632948C>G	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.447G>C	2.37:g.61632948C>G	ENSP00000381577:p.Trp149Cys						p.W149C	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		3	523	-			149					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.447G>C	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.073263	0.76415	.	.	ENSG00000115464	ENST00000398571	T	0.14144	2.53	6.17	6.17	0.99709	.	0.490071	0.21928	N	0.067066	T	0.40196	0.1107	M	0.68317	2.08	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.02444	-1.1158	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	149	Q70CQ2	UBP34_HUMAN	C	149	ENSP00000381577:W149C	ENSP00000381577:W149C	W	-	3	0	USP34	61486452	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.366000	0.79548	2.941000	0.99782	0.655000	0.94253	TGG		0.318	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			17	34	0	0	0	1	0	17	34				
GRHPR	9380	broad.mit.edu	37	9	37429760	37429760	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:37429760C>T	ENST00000318158.6	+	6	610	c.525C>T	c.(523-525)ttC>ttT	p.F175F	GRHPR_ENST00000607784.1_Silent_p.F175F	NM_012203.1	NP_036335.1	Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase	175					cellular nitrogen compound metabolic process (GO:0034641)|dicarboxylic acid metabolic process (GO:0043648)|excretion (GO:0007588)|glyoxylate metabolic process (GO:0046487)|metabolic process (GO:0008152)|oxidation-reduction process (GO:0055114)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisomal matrix (GO:0005782)	carboxylic acid binding (GO:0031406)|glycerate dehydrogenase activity (GO:0008465)|glyoxylate reductase (NADP) activity (GO:0030267)|hydroxypyruvate reductase activity (GO:0016618)|NAD binding (GO:0051287)|NADPH binding (GO:0070402)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				GBM - Glioblastoma multiforme(29;0.00687)		TGAAACCATTCGGTGTCCAGA	0.557																																						ENST00000607784.1																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(523-525)ttC>ttT		glyoxylate reductase/hydroxypyruvate reductase							102.0	98.0	99.0					9																	37429760		2203	4300	6503	SO:0001819	synonymous_variant	9380				cellular nitrogen compound metabolic process|excretion|glyoxylate metabolic process	peroxisomal matrix	glycerate dehydrogenase activity|glyoxylate reductase (NADP) activity|hydroxypyruvate reductase activity|NAD binding|protein binding	g.chr9:37429760C>T	AF134895	CCDS6609.1	9q12	2012-07-13			ENSG00000137106	ENSG00000137106	1.1.1.79, 1.1.1.81		4570	protein-coding gene	gene with protein product	"""primary hyperoxaluria type 2"""	604296		GLXR		10524214, 10484776	Standard	XM_005251631		Approved	PH2	uc003zzu.1	Q9UBQ7	OTTHUMG00000019914	ENST00000318158.6:c.525C>T	9.37:g.37429760C>T						GRHPR_ENST00000318158.6_Silent_p.F175F	p.F175F			Q9UBQ7	GRHPR_HUMAN		GBM - Glioblastoma multiforme(29;0.00687)	6	530	+			175					Q5T945|Q9H3E9|Q9H636|Q9UKX1	Silent	SNP	ENST00000318158.6	37	c.525C>T	CCDS6609.1																																																																																				0.557	GRHPR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052442.1	NM_012203		60	111	0	0	0	1	0	60	111				
MUC16	94025	broad.mit.edu	37	19	9065168	9065168	+	Silent	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:9065168G>C	ENST00000397910.4	-	3	22481	c.22278C>G	c.(22276-22278)ctC>ctG	p.L7426L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7428	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGCCTGGTGTGAGAAGTGAAG	0.488																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(22276-22278)ctC>ctG		mucin 16, cell surface associated							103.0	98.0	100.0					19																	9065168		2015	4174	6189	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9065168G>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.22278C>G	19.37:g.9065168G>C							p.L7426L	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	22481	-			7428			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.22278C>G	CCDS54212.1																																																																																				0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		6	71	0	0	0	1	0	6	71				
KIAA0319	9856	broad.mit.edu	37	6	24572864	24572864	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:24572864C>T	ENST00000378214.3	-	11	2321	c.1797G>A	c.(1795-1797)ctG>ctA	p.L599L	KIAA0319_ENST00000543707.1_Silent_p.L599L|KIAA0319_ENST00000430948.2_Silent_p.L554L|KIAA0319_ENST00000537886.1_Silent_p.L599L|KIAA0319_ENST00000535378.1_Silent_p.L590L	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	599	PKD 3. {ECO:0000255|PROSITE- ProRule:PRU00151}.				negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CTGTCACCTTCAGCTGAAATG	0.403																																						ENST00000535378.1																			0				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						c.(1768-1770)ctG>ctA		KIAA0319							135.0	114.0	121.0					6																	24572864		2203	4300	6503	SO:0001819	synonymous_variant	9856				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	g.chr6:24572864C>T	AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.1797G>A	6.37:g.24572864C>T						KIAA0319_ENST00000378214.3_Silent_p.L599L|KIAA0319_ENST00000430948.2_Silent_p.L554L|KIAA0319_ENST00000537886.1_Silent_p.L599L|KIAA0319_ENST00000543707.1_Silent_p.L599L	p.L590L	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN			12	2412	-			599			PKD 3.		A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Silent	SNP	ENST00000378214.3	37	c.1770G>A	CCDS34348.1																																																																																				0.403	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		20	57	0	0	0	1	0	20	57				
MRRF	92399	broad.mit.edu	37	9	125042832	125042832	+	Missense_Mutation	SNP	C	C	G	rs565042307		TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:125042832C>G	ENST00000344641.3	+	3	606	c.295C>G	c.(295-297)Ctc>Gtc	p.L99V	MRRF_ENST00000546115.1_Missense_Mutation_p.L99V|MRRF_ENST00000373730.3_Missense_Mutation_p.L99V|MRRF_ENST00000373723.5_Missense_Mutation_p.L99V|MRRF_ENST00000373729.1_Missense_Mutation_p.L55V|MRRF_ENST00000297908.3_Intron|MRRF_ENST00000373724.1_3'UTR|MRRF_ENST00000394315.3_Missense_Mutation_p.L99V	NM_138777.3	NP_620132.1	Q96E11	RRFM_HUMAN	mitochondrial ribosome recycling factor	99					ribosome disassembly (GO:0032790)|translation (GO:0006412)	mitochondrion (GO:0005739)				breast(3)|endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	12						GATAGAAGCTCTCAAGGATAA	0.408																																						ENST00000344641.3																			0				breast(3)|endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	12						c.(295-297)Ctc>Gtc		mitochondrial ribosome recycling factor							103.0	106.0	105.0					9																	125042832		2203	4300	6503	SO:0001583	missense	92399				ribosome disassembly|translation	mitochondrion	sequence-specific DNA binding transcription factor activity	g.chr9:125042832C>G	AA115320	CCDS6840.1, CCDS48013.1, CCDS55336.1	9q32-q34.1	2008-02-05			ENSG00000148187	ENSG00000148187			7234	protein-coding gene	gene with protein product		604602				9838146, 10773675	Standard	NM_001173512		Approved	RRF	uc010mwa.3	Q96E11	OTTHUMG00000020600	ENST00000344641.3:c.295C>G	9.37:g.125042832C>G	ENSP00000343867:p.Leu99Val					MRRF_ENST00000373730.3_Missense_Mutation_p.L99V|MRRF_ENST00000297908.3_Intron|MRRF_ENST00000373728.1_Missense_Mutation_p.L99V|MRRF_ENST00000394315.3_Missense_Mutation_p.L99V|MRRF_ENST00000373727.1_Missense_Mutation_p.L99V|MRRF_ENST00000373723.4_Missense_Mutation_p.L99V|MRRF_ENST00000546115.1_Missense_Mutation_p.L99V|MRRF_ENST00000373729.1_Missense_Mutation_p.L55V	p.L99V	NM_138777.3	NP_620132.1	Q96E11	RRFM_HUMAN			3	606	+			99					A8K6D8|A8K6Z4|B7Z4X5|B7Z6P7|Q5RKT1|Q5T7T0|Q5T7T1|Q5T7T2|Q5T7T3|Q5T7T4|Q5T7T5	Missense_Mutation	SNP	ENST00000344641.3	37	c.295C>G	CCDS6840.1	.	.	.	.	.	.	.	.	.	.	C	19.72	3.880315	0.72294	.	.	ENSG00000148187	ENST00000373723;ENST00000373730;ENST00000546115;ENST00000344641;ENST00000441707;ENST00000373729;ENST00000373727;ENST00000373728;ENST00000373724;ENST00000394315	T;T;T;T;T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71	6.08	6.08	0.98989	Ribosome recycling factor domain (2);	0.000000	0.85682	D	0.000000	T	0.74283	0.3696	M	0.85373	2.75	0.80722	D	1	D;D;P	0.89917	1.0;0.986;0.946	D;P;P	0.85130	0.997;0.77;0.677	T	0.76282	-0.3016	10	0.72032	D	0.01	-8.754	19.6516	0.95815	0.0:1.0:0.0:0.0	.	99;99;99	Q96E11-5;Q96E11-2;Q96E11	.;.;RRFM_HUMAN	V	99;99;99;99;99;55;99;99;55;99	ENSP00000362828:L99V;ENSP00000362835:L99V;ENSP00000445588:L99V;ENSP00000343867:L99V;ENSP00000395072:L99V;ENSP00000362834:L55V;ENSP00000362832:L99V;ENSP00000362833:L99V;ENSP00000362829:L55V;ENSP00000377850:L99V	ENSP00000343867:L99V	L	+	1	0	MRRF	124082653	1.000000	0.71417	0.993000	0.49108	0.857000	0.48899	5.075000	0.64407	2.894000	0.99253	0.655000	0.94253	CTC		0.408	MRRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053914.1	NM_138777		7	69	0	0	0	1	0	7	69				
ATP10D	57205	broad.mit.edu	37	4	47548694	47548694	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:47548694G>C	ENST00000273859.3	+	10	1719	c.1450G>C	c.(1450-1452)Gac>Cac	p.D484H	ATP10D_ENST00000504445.1_Missense_Mutation_p.D469H	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	484					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						AGATTTTATAGACACAGTCAG	0.473																																						ENST00000273859.3																			0				NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						c.(1450-1452)Gac>Cac		ATPase, class V, type 10D							114.0	116.0	115.0					4																	47548694		2203	4300	6503	SO:0001583	missense	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47548694G>C	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.1450G>C	4.37:g.47548694G>C	ENSP00000273859:p.Asp484His					ATP10D_ENST00000504445.1_Missense_Mutation_p.D469H	p.D484H	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN			10	1719	+			484					A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	c.1450G>C	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	G	5.210	0.224210	0.09863	.	.	ENSG00000145246	ENST00000273859;ENST00000504445	T;T	0.38887	1.11;4.01	4.78	4.78	0.61160	HAD-like domain (1);	0.709900	0.14042	N	0.345357	T	0.35307	0.0927	L	0.38175	1.15	0.20563	N	0.999883	B;B	0.15930	0.015;0.004	B;B	0.17979	0.02;0.009	T	0.15292	-1.0442	10	0.42905	T	0.14	-18.5536	12.8001	0.57580	0.0:0.1644:0.8356:0.0	.	484;469	Q9P241;Q6PEW3	AT10D_HUMAN;.	H	484;469	ENSP00000273859:D484H;ENSP00000420909:D469H	ENSP00000273859:D484H	D	+	1	0	ATP10D	47243451	0.279000	0.24239	0.175000	0.22980	0.129000	0.20672	2.446000	0.44908	2.499000	0.84300	0.491000	0.48974	GAC		0.473	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		63	69	0	0	0	1	0	63	69				
DSP	1832	broad.mit.edu	37	6	7582950	7582950	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:7582950A>G	ENST00000379802.3	+	24	5796	c.5455A>G	c.(5455-5457)Atc>Gtc	p.I1819V	DSP_ENST00000418664.2_Missense_Mutation_p.I1220V	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1819	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TCTGGTGAAAATCAAAGTCCT	0.463																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(5455-5457)Atc>Gtc		desmoplakin							116.0	123.0	121.0					6																	7582950		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7582950A>G	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.5455A>G	6.37:g.7582950A>G	ENSP00000369129:p.Ile1819Val					DSP_ENST00000418664.2_Missense_Mutation_p.I1220V	p.I1819V	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	24	5796	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	1819			Central fibrous rod domain.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.5455A>G	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	A	12.25	1.881067	0.33255	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.62105	0.05;0.05	5.21	5.21	0.72293	.	0.101356	0.42964	D	0.000635	T	0.37732	0.1014	L	0.38175	1.15	0.39451	D	0.967405	B;B	0.27380	0.177;0.062	B;B	0.26693	0.072;0.024	T	0.32613	-0.9900	10	0.29301	T	0.29	.	15.1068	0.72326	1.0:0.0:0.0:0.0	.	1267;1819	Q4LE79;P15924	.;DESP_HUMAN	V	1819;1220	ENSP00000369129:I1819V;ENSP00000396591:I1220V	ENSP00000369129:I1819V	I	+	1	0	DSP	7527949	1.000000	0.71417	0.991000	0.47740	0.998000	0.95712	3.810000	0.55613	1.957000	0.56846	0.533000	0.62120	ATC		0.463	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		98	138	0	0	0	1	0	98	138				
RIPPLY2	134701	broad.mit.edu	37	6	84567085	84567085	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:84567085G>A	ENST00000369689.1	+	4	515	c.364G>A	c.(364-366)Gag>Aag	p.E122K	RIPPLY2_ENST00000369687.1_Missense_Mutation_p.E64K|CYB5R4_ENST00000369679.4_5'Flank|CYB5R4_ENST00000369681.5_5'Flank	NM_001009994.1	NP_001009994.1	Q5TAB7	RIPP2_HUMAN	ripply transcriptional repressor 2	122					bone morphogenesis (GO:0060349)|determination of left/right symmetry (GO:0007368)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|post-anal tail morphogenesis (GO:0036342)|regulation of gene expression (GO:0010468)|somite rostral/caudal axis specification (GO:0032525)|somitogenesis (GO:0001756)	nucleus (GO:0005634)				large_intestine(2)|lung(4)|urinary_tract(1)	7						AGATGAAATTGAGGATCTGAC	0.289																																						ENST00000369689.1																			0				large_intestine(2)|lung(4)|urinary_tract(1)	7						c.(364-366)Gag>Aag		ripply transcriptional repressor 2							57.0	63.0	61.0					6																	84567085		2200	4292	6492	SO:0001583	missense	134701				somite rostral/caudal axis specification	nucleus		g.chr6:84567085G>A	BC130460	CCDS34493.1	6q14.2	2013-07-23	2013-07-23	2008-05-07	ENSG00000203877	ENSG00000203877			21390	protein-coding gene	gene with protein product		609891	"""chromosome 6 open reading frame 159"", ""ripply2 homolog (zebrafish)"""	C6orf159			Standard	NM_001009994		Approved	dJ237I15.1	uc003pke.3	Q5TAB7	OTTHUMG00000015117	ENST00000369689.1:c.364G>A	6.37:g.84567085G>A	ENSP00000358703:p.Glu122Lys					RIPPLY2_ENST00000369687.1_Missense_Mutation_p.E64K	p.E122K	NM_001009994.1	NP_001009994.1	Q5TAB7	RIPP2_HUMAN			4	515	+			122					Q5TAB6	Missense_Mutation	SNP	ENST00000369689.1	37	c.364G>A	CCDS34493.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.055727	0.75960	.	.	ENSG00000203877	ENST00000369689;ENST00000369687	.	.	.	5.52	5.52	0.82312	.	0.183599	0.46442	D	0.000284	T	0.60196	0.2250	M	0.69358	2.11	0.53005	D	0.999961	P	0.46142	0.873	P	0.44990	0.466	T	0.62558	-0.6829	9	0.46703	T	0.11	-9.4655	19.6361	0.95733	0.0:0.0:1.0:0.0	.	122	Q5TAB7	RIPP2_HUMAN	K	122;64	.	ENSP00000358701:E64K	E	+	1	0	RIPPLY2	84623804	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	5.631000	0.67812	2.878000	0.98634	0.650000	0.86243	GAG		0.289	RIPPLY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041360.1	NM_001009994		21	46	0	0	0	1	0	21	46				
TGFBR2	7048	broad.mit.edu	37	3	30733072	30733072	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:30733072C>T	ENST00000295754.5	+	7	2067	c.1685C>T	c.(1684-1686)tCc>tTc	p.S562F	TGFBR2_ENST00000359013.4_Missense_Mutation_p.S587F	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	562					activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GAAGACGGCTCCCTAAACACT	0.587																																						ENST00000295754.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						c.(1684-1686)tCc>tTc		transforming growth factor, beta receptor II (70/80kDa)							84.0	86.0	85.0					3																	30733072		2203	4300	6503	SO:0001583	missense	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30733072C>T		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1685C>T	3.37:g.30733072C>T	ENSP00000295754:p.Ser562Phe					TGFBR2_ENST00000359013.4_Missense_Mutation_p.S587F	p.S562F	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN			7	2067	+			562					B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	ENST00000295754.5	37	c.1685C>T	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409313	0.83340	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	D;D	0.86030	-2.03;-2.06	6.16	6.16	0.99307	.	0.475814	0.22606	N	0.057900	D	0.89491	0.6730	L	0.44542	1.39	0.54753	D	0.999981	D;D	0.67145	0.99;0.996	P;P	0.60236	0.827;0.871	D	0.89262	0.3598	10	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	562;587	P37173;D2JYI1	TGFR2_HUMAN;.	F	562;587;392	ENSP00000295754:S562F;ENSP00000351905:S587F	ENSP00000295754:S562F	S	+	2	0	TGFBR2	30708076	1.000000	0.71417	0.994000	0.49952	0.960000	0.62799	5.953000	0.70290	2.937000	0.99478	0.650000	0.86243	TCC		0.587	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			66	73	0	0	0	1	0	66	73				
BMP6	654	broad.mit.edu	37	6	7727793	7727793	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:7727793G>C	ENST00000283147.6	+	1	764	c.605G>C	c.(604-606)aGc>aCc	p.S202T		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	202					BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular response to mechanical stimulus (GO:0071260)|endochondral ossification (GO:0001958)|eye development (GO:0001654)|growth (GO:0040007)|immune response (GO:0006955)|inflammatory response (GO:0006954)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|osteoblast differentiation (GO:0001649)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of bone mineralization (GO:0030501)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to activity (GO:0014823)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to retinoic acid (GO:0032526)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|type B pancreatic cell development (GO:0003323)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)|protein heterodimerization activity (GO:0046982)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					CCACTGACCAGCGCGCAGGAC	0.662																																						ENST00000283147.6																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23						c.(604-606)aGc>aCc		bone morphogenetic protein 6							10.0	12.0	11.0					6																	7727793		1939	3851	5790	SO:0001583	missense	654				BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity	g.chr6:7727793G>C	AF083030	CCDS4503.1	6p24-p23	2014-01-30	2003-10-06		ENSG00000153162	ENSG00000153162		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1073	protein-coding gene	gene with protein product		112266	"""vegetal related growth factor (TGFB-related)"""	VGR		1427904, 1453478	Standard	NM_001718		Approved	VGR1	uc003mxu.4	P22004	OTTHUMG00000014217	ENST00000283147.6:c.605G>C	6.37:g.7727793G>C	ENSP00000283147:p.Ser202Thr						p.S202T	NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN			1	764	+	Ovarian(93;0.0721)		202					Q5TCP3	Missense_Mutation	SNP	ENST00000283147.6	37	c.605G>C	CCDS4503.1	.	.	.	.	.	.	.	.	.	.	G	5.105	0.204996	0.09704	.	.	ENSG00000153162	ENST00000537240;ENST00000283147;ENST00000540959	T	0.73363	-0.74	3.63	2.72	0.32119	Transforming growth factor-beta, N-terminal (1);	0.201927	0.39544	N	0.001332	T	0.43166	0.1235	L	0.28400	0.85	0.42295	D	0.99215	B	0.13594	0.008	B	0.24269	0.052	T	0.29181	-1.0020	10	0.14656	T	0.56	.	12.3525	0.55157	0.0:0.1723:0.8277:0.0	.	202	P22004	BMP6_HUMAN	T	124;202;165	ENSP00000283147:S202T	ENSP00000283147:S202T	S	+	2	0	BMP6	7672792	1.000000	0.71417	0.999000	0.59377	0.062000	0.15995	2.286000	0.43496	0.665000	0.31066	0.455000	0.32223	AGC		0.662	BMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039794.1	NM_001718		21	22	0	0	0	1	0	21	22				
BOD1L1	259282	broad.mit.edu	37	4	13602712	13602712	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:13602712C>T	ENST00000040738.5	-	10	5947	c.5812G>A	c.(5812-5814)Gag>Aag	p.E1938K		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1938						nucleus (GO:0005634)	DNA binding (GO:0003677)										CTTCCTTTCTCTGTGCCACTC	0.463																																						ENST00000040738.5																			0											c.(5812-5814)Gag>Aag		biorientation of chromosomes in cell division 1-like 1							121.0	114.0	116.0					4																	13602712		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13602712C>T	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.5812G>A	4.37:g.13602712C>T	ENSP00000040738:p.Glu1938Lys						p.E1938K	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	5947	-			1938					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.5812G>A	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	C	11.80	1.747342	0.30955	.	.	ENSG00000038219	ENST00000040738	T	0.11930	2.73	5.07	5.07	0.68467	.	0.220622	0.31370	N	0.007774	T	0.12475	0.0303	L	0.34521	1.04	0.40808	D	0.983394	B	0.24043	0.096	B	0.18263	0.021	T	0.08046	-1.0741	10	0.32370	T	0.25	-7.7296	16.6214	0.84931	0.0:1.0:0.0:0.0	.	1938	Q8NFC6	BOD1L_HUMAN	K	1938	ENSP00000040738:E1938K	ENSP00000040738:E1938K	E	-	1	0	BOD1L	13211810	0.081000	0.21417	0.911000	0.35937	0.045000	0.14185	0.818000	0.27295	2.353000	0.79882	0.561000	0.74099	GAG		0.463	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		24	56	0	0	0	1	0	24	56				
ALDH1L2	160428	broad.mit.edu	37	12	105420516	105420516	+	Silent	SNP	G	G	A	rs143634333		TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:105420516G>A	ENST00000258494.9	-	22	2663	c.2523C>T	c.(2521-2523)atC>atT	p.I841I	C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	841	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)	p.I841I(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						ACACTCCATCGATGTCCCTGT	0.368																																						ENST00000258494.9																			1	Substitution - coding silent(1)	p.I841I(1)	large_intestine(1)	breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						c.(2521-2523)atC>atT		aldehyde dehydrogenase 1 family, member L2		G		1,4405	2.1+/-5.4	0,1,2202	161.0	154.0	157.0		2523	3.4	1.0	12	dbSNP_134	157	0,8600		0,0,4300	no	coding-synonymous	ALDH1L2	NM_001034173.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		841/924	105420516	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	160428				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding	g.chr12:105420516G>A	AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"""Aldehyde dehydrogenases"""	26777	protein-coding gene	gene with protein product	"""mitochondrial 10-formyltetrahydrofolate dehydrogenase"""	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.2523C>T	12.37:g.105420516G>A						C12orf45_ENST00000548583.1_Intron	p.I841I	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN			22	2663	-			841			Aldehyde dehydrogenase.		Q3SY68|Q68D62|Q6AI55|Q8N922	Silent	SNP	ENST00000258494.9	37	c.2523C>T	CCDS31891.1																																																																																				0.368	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406098.1	XM_090294		44	154	0	0	0	1	0	44	154				
COL20A1	57642	broad.mit.edu	37	20	61959496	61959496	+	Intron	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr20:61959496G>C	ENST00000358894.6	+	33	3713				COL20A1_ENST00000422202.1_Splice_Site_p.Q1217H|COL20A1_ENST00000326996.6_Intron|COL20A1_ENST00000435874.1_Splice_Site_p.Q1217H	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1						extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CTGCCATTCAGAGTGAGTGAG	0.637																																						ENST00000422202.1																			0				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36						c.e32+1		collagen, type XX, alpha 1							49.0	54.0	52.0					20																	61959496		2166	4258	6424	SO:0001627	intron_variant	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61959496G>C	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.3613+17G>C	20.37:g.61959496G>C						COL20A1_ENST00000358894.6_Intron|COL20A1_ENST00000326996.6_Intron|COL20A1_ENST00000435874.1_Splice_Site_p.Q1217_splice	p.Q1217_splice			Q9P218	COKA1_HUMAN			32	3719	+	all_cancers(38;1.39e-10)		1204					Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Splice_Site	SNP	ENST00000358894.6	37	c.3652_splice	CCDS46628.1	.	.	.	.	.	.	.	.	.	.	G	1.045	-0.677732	0.03378	.	.	ENSG00000101203	ENST00000435874;ENST00000422202;ENST00000415763;ENST00000455906	D;D;D;D	0.91577	-2.22;-2.22;-2.87;-2.74	3.73	2.77	0.32553	.	0.144833	0.46758	U	0.000269	T	0.80481	0.4631	.	.	.	0.21652	N	0.999607	B	0.24823	0.112	B	0.20384	0.029	T	0.64993	-0.6276	8	.	.	.	.	6.1797	0.20463	0.1412:0.0:0.8588:0.0	.	1217	Q9P218-2	.	H	1217;1217;345;200	ENSP00000408690:Q1217H;ENSP00000414753:Q1217H;ENSP00000410799:Q345H;ENSP00000406345:Q200H	.	Q	+	3	2	COL20A1	61429940	1.000000	0.71417	0.986000	0.45419	0.024000	0.10985	1.758000	0.38410	1.622000	0.50330	0.313000	0.20887	CAG		0.637	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882		15	27	0	0	0	1	0	15	27				
TACC2	10579	broad.mit.edu	37	10	123844321	123844321	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr10:123844321C>T	ENST00000369005.1	+	4	2646	c.2306C>T	c.(2305-2307)gCg>gTg	p.A769V	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.A769V|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.A769V|TACC2_ENST00000515603.1_Missense_Mutation_p.A769V|TACC2_ENST00000334433.3_Missense_Mutation_p.A769V	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	769					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GCGTGTGATGCGTCGAGACAG	0.607																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(2305-2307)gCg>gTg		transforming, acidic coiled-coil containing protein 2							59.0	67.0	64.0					10																	123844321		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123844321C>T	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.2306C>T	10.37:g.123844321C>T	ENSP00000358001:p.Ala769Val					TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.A769V|TACC2_ENST00000334433.3_Missense_Mutation_p.A769V|TACC2_ENST00000453444.2_Missense_Mutation_p.A769V|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.A769V	p.A769V	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			4	2646	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	769					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.2306C>T	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	c	14.05	2.420426	0.42918	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.03689	3.9;3.84;3.85;3.9;3.84	5.46	-0.358	0.12575	.	0.935785	0.08765	N	0.897214	T	0.02342	0.0072	L	0.27053	0.805	0.09310	N	1	B;B;B	0.30033	0.266;0.266;0.113	B;B;B	0.18561	0.022;0.013;0.013	T	0.46233	-0.9206	10	0.72032	D	0.01	-0.0075	0.8229	0.01115	0.2614:0.3288:0.2274:0.1824	.	769;769;769	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	V	769;769;769;769;769;759	ENSP00000358001:A769V;ENSP00000424467:A769V;ENSP00000427618:A769V;ENSP00000334280:A769V;ENSP00000395048:A769V	ENSP00000334280:A769V	A	+	2	0	TACC2	123834311	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.852000	0.04308	0.252000	0.21531	-0.215000	0.12644	GCG		0.607	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			63	133	0	0	0	1	0	63	133				
SNX13	23161	broad.mit.edu	37	7	17843204	17843204	+	Splice_Site	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr7:17843204C>G	ENST00000409389.1	-	21	2270		c.e21-1		SNX13_ENST00000428135.3_Splice_Site|SNX13_ENST00000496855.1_Splice_Site			Q9Y5W8	SNX13_HUMAN	sorting nexin 13						intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					AAGTGTCCATCTAAAGGGAAA	0.363																																						ENST00000409389.1																			0				breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.e21-1		sorting nexin 13							71.0	63.0	65.0					7																	17843204		1837	4081	5918	SO:0001630	splice_region_variant	23161				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr7:17843204C>G	AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"""Sorting nexins"""	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.2098-1G>C	7.37:g.17843204C>G						SNX13_ENST00000428135.3_Splice_Site|SNX13_ENST00000496855.1_Splice_Site				Q9Y5W8	SNX13_HUMAN			21	2270	-	Lung NSC(10;0.0261)|all_lung(11;0.0521)							B2RCI9|O94821|Q8WVZ2|Q8WXH8	Splice_Site	SNP	ENST00000409389.1	37			.	.	.	.	.	.	.	.	.	.	C	24.6	4.545178	0.86022	.	.	ENSG00000071189	ENST00000409389;ENST00000428135;ENST00000242044	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3368	0.98748	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SNX13	17809729	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.487000	0.81328	2.805000	0.96524	0.655000	0.94253	.		0.363	SNX13-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000327608.1	NM_015132	Intron	10	9	0	0	0	1	0	10	9				
LHCGR	3973	broad.mit.edu	37	2	48956296	48956296	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:48956296C>G	ENST00000294954.7	-	3	325	c.304G>C	c.(304-306)Gaa>Caa	p.E102Q	LHCGR_ENST00000344775.3_Missense_Mutation_p.E102Q|LHCGR_ENST00000401907.1_Missense_Mutation_p.E102Q|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000405626.1_Missense_Mutation_p.E102Q|LHCGR_ENST00000403273.1_Missense_Mutation_p.E102Q	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	102					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	GCTTACATTTCAGACAAATTG	0.438																																						ENST00000294954.7																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56						c.(304-306)Gaa>Caa		luteinizing hormone/choriogonadotropin receptor	Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)						114.0	113.0	113.0					2																	48956296		2203	4300	6503	SO:0001583	missense	3973				male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	g.chr2:48956296C>G		CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"""GPCR / Class A : Gonadotropin and TSH receptors"""	6585	protein-coding gene	gene with protein product		152790	"""hypergonadotropic hypogonadism"""	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.304G>C	2.37:g.48956296C>G	ENSP00000294954:p.Glu102Gln					LHCGR_ENST00000403273.1_Missense_Mutation_p.E102Q|LHCGR_ENST00000401907.1_Missense_Mutation_p.E102Q|LHCGR_ENST00000344775.3_Missense_Mutation_p.E102Q|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000405626.1_Missense_Mutation_p.E102Q	p.E102Q	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		3	325	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	102					Q14751|Q15996|Q9UEW9	Missense_Mutation	SNP	ENST00000294954.7	37	c.304G>C	CCDS1842.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.279291	0.59758	.	.	ENSG00000138039	ENST00000344775;ENST00000294954;ENST00000405626;ENST00000403273;ENST00000401907;ENST00000428232	D;D;D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81;-1.81;-1.81	5.25	5.25	0.73442	.	0.111915	0.64402	D	0.000013	D	0.87261	0.6133	N	0.25332	0.735	0.51767	D	0.999938	D	0.89917	1.0	D	0.87578	0.998	D	0.85839	0.1396	9	.	.	.	.	16.3366	0.83064	0.0:1.0:0.0:0.0	.	102	P22888	LSHR_HUMAN	Q	102;102;102;102;102;68	ENSP00000344301:E102Q;ENSP00000294954:E102Q;ENSP00000386033:E102Q;ENSP00000385847:E102Q;ENSP00000385406:E102Q;ENSP00000403748:E68Q	.	E	-	1	0	LHCGR	48809800	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.123000	0.64703	2.613000	0.88420	0.655000	0.94253	GAA		0.438	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251364.4	NM_000233.3		12	115	0	0	0	1	0	12	115				
MUC5B	727897	broad.mit.edu	37	11	1253704	1253704	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:1253704C>T	ENST00000529681.1	+	16	1926	c.1868C>T	c.(1867-1869)tCg>tTg	p.S623L	MUC5B_ENST00000447027.1_Missense_Mutation_p.S626L	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	623	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				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)		CACTGGTGCTCGCGCCTGACC	0.667																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(1876-1878)tCg>tTg		mucin 5B, oligomeric mucus/gel-forming							40.0	46.0	44.0					11																	1253704		2107	4219	6326	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1253704C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.1868C>T	11.37:g.1253704C>T	ENSP00000436812:p.Ser623Leu					MUC5B_ENST00000529681.1_Missense_Mutation_p.S623L	p.S626L			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	16	1935	+		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)	623			VWFD 2.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.1877C>T	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	8.991	0.977834	0.18812	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.77620	-1.11;-1.11	4.32	3.35	0.38373	von Willebrand factor, type D domain (1);Uncharacterised domain, cysteine-rich (2);	.	.	.	.	D	0.88407	0.6428	M	0.90650	3.135	0.28254	N	0.92514	P;D;D	0.69078	0.884;0.99;0.997	B;P;P	0.61328	0.256;0.829;0.887	T	0.82327	-0.0512	9	0.87932	D	0	.	13.5859	0.61931	0.0:0.598:0.402:0.0	.	623;1282;626	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	L	623;626;624;659	ENSP00000436812:S623L;ENSP00000415793:S626L	ENSP00000343037:S624L	S	+	2	0	MUC5B	1210280	0.002000	0.14202	0.879000	0.34478	0.164000	0.22412	1.477000	0.35431	1.946000	0.56461	0.462000	0.41574	TCG		0.667	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		9	15	0	0	0	1	0	9	15				
CROCC	9696	broad.mit.edu	37	1	17266458	17266458	+	Missense_Mutation	SNP	G	G	A	rs145642834	byFrequency	TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:17266458G>A	ENST00000375541.5	+	13	1747	c.1678G>A	c.(1678-1680)Gag>Aag	p.E560K	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		TAGCGACAGCGAGAGCGAGCG	0.697																																						ENST00000375541.5																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62						c.(1678-1680)Gag>Aag		ciliary rootlet coiled-coil, rootletin							44.0	42.0	42.0					1																	17266458		2199	4291	6490	SO:0001583	missense	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17266458G>A	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.1678G>A	1.37:g.17266458G>A	ENSP00000364691:p.Glu560Lys					CROCC_ENST00000467938.1_3'UTR	p.E560K	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	13	1747	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	560						Missense_Mutation	SNP	ENST00000375541.5	37	c.1678G>A	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.201264	0.58234	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.17528	2.27	4.89	4.89	0.63831	.	.	.	.	.	T	0.41259	0.1151	M	0.73598	2.24	0.52501	D	0.999959	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.78314	0.976;0.976;0.991	T	0.08472	-1.0720	9	0.28530	T	0.3	.	16.3533	0.83225	0.0:0.0:1.0:0.0	.	423;423;560	A1L0S8;A1L0S9;Q5TZA2	.;.;CROCC_HUMAN	K	560;441	ENSP00000364691:E560K	ENSP00000364691:E560K	E	+	1	0	CROCC	17139045	1.000000	0.71417	0.995000	0.50966	0.113000	0.19764	5.547000	0.67249	2.651000	0.90000	0.561000	0.74099	GAG		0.697	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		36	110	0	0	0	1	0	36	110				
C9orf84	158401	broad.mit.edu	37	9	114490173	114490173	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:114490173G>C	ENST00000318737.4	-	11	1510	c.1382C>G	c.(1381-1383)gCa>gGa	p.A461G	C9orf84_ENST00000394779.3_Missense_Mutation_p.A422G|C9orf84_ENST00000374287.3_Missense_Mutation_p.A461G|C9orf84_ENST00000394777.4_Missense_Mutation_p.A422G	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	461										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTCTTCTTTTGCTGCTCCTTT	0.358																																						ENST00000394779.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1264-1266)gCa>gGa		chromosome 9 open reading frame 84							95.0	95.0	95.0					9																	114490173		2203	4300	6503	SO:0001583	missense	158401							g.chr9:114490173G>C	AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.1382C>G	9.37:g.114490173G>C	ENSP00000322108:p.Ala461Gly					C9orf84_ENST00000374287.3_Missense_Mutation_p.A461G|C9orf84_ENST00000394777.4_Missense_Mutation_p.A422G|C9orf84_ENST00000318737.4_Missense_Mutation_p.A461G	p.A422G	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN			9	1509	-			461					A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	ENST00000318737.4	37	c.1265C>G	CCDS6781.3	.	.	.	.	.	.	.	.	.	.	G	5.319	0.244183	0.10077	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000394778;ENST00000374287;ENST00000318737	T;T;T;T	0.04654	3.58;3.58;3.59;3.59	5.04	-2.11	0.07187	.	1.252540	0.05522	N	0.562295	T	0.02610	0.0079	N	0.14661	0.345	0.09310	N	1	B;B;B	0.27732	0.187;0.187;0.187	B;B;B	0.24155	0.051;0.051;0.051	T	0.45469	-0.9259	10	0.24483	T	0.36	1.5136	2.6591	0.05021	0.0909:0.2439:0.2151:0.4501	.	422;461;422	A6PVK7;Q5VXU9;A2A2V3	.;CI084_HUMAN;.	G	422;422;75;461;461	ENSP00000378259:A422G;ENSP00000378257:A422G;ENSP00000363405:A461G;ENSP00000322108:A461G	ENSP00000322108:A461G	A	-	2	0	C9orf84	113529994	0.002000	0.14202	0.000000	0.03702	0.301000	0.27625	0.112000	0.15479	-0.154000	0.11118	-0.291000	0.09656	GCA		0.358	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521		19	42	0	0	0	1	0	19	42				
RUNDC1	146923	broad.mit.edu	37	17	41143387	41143387	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr17:41143387C>G	ENST00000361677.1	+	5	1508	c.1496C>G	c.(1495-1497)tCc>tGc	p.S499C		NM_173079.2	NP_775102	Q96C34	RUND1_HUMAN	RUN domain containing 1	499	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.									breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		CTCTCCCAGTCCTTCGCCCTT	0.572																																						ENST00000361677.1																			0				breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						c.(1495-1497)tCc>tGc		RUN domain containing 1							68.0	67.0	68.0					17																	41143387		2203	4300	6503	SO:0001583	missense	146923							g.chr17:41143387C>G	AL831813	CCDS11448.1	17q21.31	2004-02-27				ENSG00000198863			25418	protein-coding gene	gene with protein product						12477932	Standard	NM_173079		Approved	DKFZp761H0421	uc002ici.1	Q96C34		ENST00000361677.1:c.1496C>G	17.37:g.41143387C>G	ENSP00000354622:p.Ser499Cys						p.S499C	NM_173079.2	NP_775102.2	Q96C34	RUND1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.161)	5	1508	+		Breast(137;0.00499)	499			RUN.		Q6Y2K8|Q8IXT9|Q8N3W1	Missense_Mutation	SNP	ENST00000361677.1	37	c.1496C>G	CCDS11448.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.384701	0.82792	.	.	ENSG00000198863	ENST00000361677	T	0.28255	1.62	5.02	5.02	0.67125	RUN (2);	0.059953	0.64402	D	0.000002	T	0.59622	0.2207	M	0.83603	2.65	0.80722	D	1	D	0.71674	0.998	D	0.66847	0.947	T	0.66073	-0.6014	10	0.87932	D	0	-13.3226	18.5295	0.90986	0.0:1.0:0.0:0.0	.	499	Q96C34	RUND1_HUMAN	C	499	ENSP00000354622:S499C	ENSP00000354622:S499C	S	+	2	0	RUNDC1	38396913	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.647000	0.83462	2.598000	0.87819	0.655000	0.94253	TCC		0.572	RUNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452464.1	NM_173079		57	87	0	0	0	1	0	57	87				
SSPO	23145	broad.mit.edu	37	7	149484608	149484608	+	RNA	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr7:149484608C>T	ENST00000378016.2	+	0	3531							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCTGGCGCCTCAGCCCCCTCT	0.662																																						ENST00000378016.2																			0													SCO-spondin							21.0	26.0	24.0					7																	149484608		2047	4183	6230			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149484608C>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149484608C>T										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	3531	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.662	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				4	21	0	0	0	1	0	4	21				
HSDL2	84263	broad.mit.edu	37	9	115216390	115216390	+	Silent	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:115216390C>G	ENST00000398805.3	+	9	1190	c.963C>G	c.(961-963)ctC>ctG	p.L321L	HSDL2_ENST00000539114.1_Silent_p.L116L|HSDL2_ENST00000488101.1_3'UTR|HSDL2_ENST00000398803.1_Silent_p.L248L|HSDL2_ENST00000262542.7_Silent_p.L201L	NM_032303.4	NP_115679.2	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	321	SCP2.					membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						AGGACTCTCTCAGTGATGATG	0.408																																						ENST00000398805.3																			0				NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						c.(961-963)ctC>ctG		hydroxysteroid dehydrogenase like 2							158.0	143.0	148.0					9																	115216390		1885	4115	6000	SO:0001819	synonymous_variant	84263					peroxisome	oxidoreductase activity|sterol binding	g.chr9:115216390C>G	AY093428	CCDS43864.1, CCDS56582.1	9q32	2011-09-14			ENSG00000119471	ENSG00000119471		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	18572	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 13C, member 1"""		"""chromosome 9 open reading frame 99"""	C9orf99		12834046, 19027726	Standard	NM_032303		Approved	SDR13C1	uc004bga.2	Q6YN16	OTTHUMG00000020504	ENST00000398805.3:c.963C>G	9.37:g.115216390C>G						HSDL2_ENST00000488101.1_3'UTR|HSDL2_ENST00000262542.7_Silent_p.L201L|HSDL2_ENST00000539114.1_Silent_p.L116L|HSDL2_ENST00000398803.1_Silent_p.L248L	p.L321L	NM_032303.4	NP_115679.2	Q6YN16	HSDL2_HUMAN			9	1190	+			321			SCP2.		A8K1L4|A8K8X1|A8MSV3|Q658M8|Q9BT58	Silent	SNP	ENST00000398805.3	37	c.963C>G	CCDS43864.1																																																																																				0.408	HSDL2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053681.1	NM_032303		44	76	0	0	0	1	0	44	76				
UPF2	26019	broad.mit.edu	37	10	12041914	12041914	+	Silent	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr10:12041914C>G	ENST00000356352.2	-	6	2222	c.1749G>C	c.(1747-1749)ctG>ctC	p.L583L	UPF2_ENST00000397053.2_Silent_p.L583L|UPF2_ENST00000357604.5_Silent_p.L583L			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	583	MIF4G 2.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				CCTTGTCTATCAGATCTCGGT	0.418																																						ENST00000356352.2																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56						c.(1747-1749)ctG>ctC		UPF2 regulator of nonsense transcripts homolog (yeast)							156.0	131.0	140.0					10																	12041914		2203	4300	6503	SO:0001819	synonymous_variant	26019				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding	g.chr10:12041914C>G	AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.1749G>C	10.37:g.12041914C>G						UPF2_ENST00000357604.5_Silent_p.L583L|UPF2_ENST00000397053.2_Silent_p.L583L	p.L583L			Q9HAU5	RENT2_HUMAN			6	2222	-		Renal(717;0.228)	583			MIF4G 2.		A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Silent	SNP	ENST00000356352.2	37	c.1749G>C	CCDS7086.1																																																																																				0.418	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1			25	45	0	0	0	1	0	25	45				
ZC3H15	55854	broad.mit.edu	37	2	187370271	187370271	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:187370271G>C	ENST00000337859.6	+	7	1038	c.811G>C	c.(811-813)Gaa>Caa	p.E271Q	AC018867.2_ENST00000595956.1_5'Flank|ZC3H15_ENST00000544130.1_Missense_Mutation_p.E66Q	NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	zinc finger CCCH-type containing 15	271					cytokine-mediated signaling pathway (GO:0019221)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			TGATAAACTTGAACAAGATAT	0.388																																						ENST00000337859.6																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15						c.(811-813)Gaa>Caa		zinc finger CCCH-type containing 15							115.0	112.0	113.0					2																	187370271		1843	4095	5938	SO:0001583	missense	55854					cytoplasm|nucleolus|plasma membrane	nucleic acid binding|zinc ion binding	g.chr2:187370271G>C		CCDS42791.1	2q32.1	2012-07-05			ENSG00000065548	ENSG00000065548		"""Zinc fingers, CCCH-type domain containing"""	29528	protein-coding gene	gene with protein product	"""likely ortholog of mouse immediate early response, erythropoietin 4"""					10880228	Standard	NM_018471		Approved	LEREPO4	uc002upo.3	Q8WU90	OTTHUMG00000154251	ENST00000337859.6:c.811G>C	2.37:g.187370271G>C	ENSP00000338788:p.Glu271Gln					ZC3H15_ENST00000544130.1_Missense_Mutation_p.E66Q	p.E271Q	NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)		7	1038	+			271					B4DMW2|D3DPG7|Q5QTQ4|Q8WZ06|Q9NUZ3|Q9NZ37|Q9P079	Missense_Mutation	SNP	ENST00000337859.6	37	c.811G>C	CCDS42791.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.804663	0.50315	.	.	ENSG00000065548	ENST00000337859;ENST00000544130;ENST00000536434	T	0.33865	1.39	6.17	5.29	0.74685	.	0.187023	0.56097	D	0.000022	T	0.40619	0.1124	L	0.41356	1.27	0.45161	D	0.998178	D	0.57899	0.981	P	0.51701	0.677	T	0.02132	-1.1208	10	0.25106	T	0.35	-30.4343	15.9972	0.80260	0.065:0.0:0.935:0.0	.	271	Q8WU90	ZC3HF_HUMAN	Q	271;66;271	ENSP00000338788:E271Q	ENSP00000338788:E271Q	E	+	1	0	ZC3H15	187078516	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.026000	0.57232	2.941000	0.99782	0.655000	0.94253	GAA		0.388	ZC3H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334547.2	NM_018471		35	44	0	0	0	1	0	35	44				
STAG3L2	442582	broad.mit.edu	37	7	74301245	74301245	+	RNA	SNP	C	C	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr7:74301245C>A	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						TAGCACGGATCTCAGGAAGGA	0.468																																						ENST00000423186.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5															107.0	94.0	98.0					7																	74301245		2199	4257	6456			442582					nucleus	binding	g.chr7:74301245C>A			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.74301245C>A										P0CL84	ST3L2_HUMAN			0	499	-								A6NMT8|A8K0A1|Q32NE4|Q6NXR2|Q7L5M5|Q7Z5K6	RNA	SNP	ENST00000423186.1	37			.	.	.	.	.	.	.	.	.	.	C	5.560	0.288154	0.10513	.	.	ENSG00000160828	ENST00000457631;ENST00000448772;ENST00000429726	.	.	.	.	.	.	Stromalin conservative domain (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.48767	D	0.000165	T	0.32645	0.0836	.	.	.	0.29433	N	0.859696	B	0.30634	0.288	B	0.38225	0.268	T	0.23655	-1.0182	5	.	.	.	.	3.5811	0.07954	2.0E-4:0.4998:0.4998:2.0E-4	.	20	P0CL84	ST3L2_HUMAN	D	20	.	.	E	-	3	2	STAG3L2	73939181	1.000000	0.71417	0.000000	0.03702	0.000000	0.00434	0.334000	0.19787	-0.000000	0.14550	0.000000	0.15137	GAG		0.468	STAG3L2-002	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000343523.2	NM_001025202		139	286	1	0	7.08505e-72	1	7.53281e-72	139	286				
SLC22A6	9356	broad.mit.edu	37	11	62744281	62744281	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:62744281C>T	ENST00000377871.3	-	10	1943	c.1677G>A	c.(1675-1677)gaG>gaA	p.E559E	SLC22A6_ENST00000458333.2_Silent_p.E502E|SLC22A6_ENST00000360421.4_Silent_p.E546E|SLC22A6_ENST00000421062.2_Silent_p.E515E	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	559					alpha-ketoglutarate transport (GO:0015742)|organic anion transport (GO:0015711)|protein homooligomerization (GO:0051260)|renal tubular secretion (GO:0097254)|response to methotrexate (GO:0031427)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride ion binding (GO:0031404)|inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36					Acetaminophen(DB00316)|Acetazolamide(DB00819)|Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Aminohippurate(DB00345)|Aminophenazone(DB01424)|Amoxicillin(DB01060)|Antipyrine(DB01435)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bromodiphenhydramine(DB01237)|Bumetanide(DB00887)|Captopril(DB01197)|Carbenicillin(DB00578)|Carprofen(DB00821)|Caspofungin(DB00520)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cefotiam(DB00229)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Chloramphenicol(DB00446)|Chlorothiazide(DB00880)|Chlorpropamide(DB00672)|Cidofovir(DB00369)|Cilastatin(DB01597)|Cimetidine(DB00501)|Cinoxacin(DB00827)|Cloxacillin(DB01147)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Cyclothiazide(DB00606)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Didanosine(DB00900)|Diflunisal(DB00861)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Fluorescein(DB00693)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Foscarnet(DB00529)|Furosemide(DB00695)|Ganciclovir(DB01004)|Gentamicin(DB00798)|Glyburide(DB01016)|Hydrochlorothiazide(DB00999)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Losartan(DB00678)|Meclofenamic acid(DB00939)|Methazolamide(DB00703)|Methotrexate(DB00563)|Minocycline(DB01017)|Nafcillin(DB00607)|Nalidixic Acid(DB00779)|Naproxen(DB00788)|Nateglinide(DB00731)|Norfloxacin(DB01059)|Novobiocin(DB01051)|Ofloxacin(DB01165)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piperacillin(DB00319)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Riboflavin(DB00140)|Salicylic acid(DB00936)|Stavudine(DB00649)|Streptomycin(DB01082)|Sulindac(DB00605)|Tenofovir(DB00300)|Tetracycline(DB00759)|Tolbutamide(DB01124)|Tolmetin(DB00500)|Trifluridine(DB00432)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Vancomycin(DB00512)|Zalcitabine(DB00943)|Zidovudine(DB00495)	GTCCATTCTTCTCTTGTGCTG	0.557																																						ENST00000377871.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(1675-1677)gaG>gaA		solute carrier family 22 (organic anion transporter), member 6							159.0	130.0	140.0					11																	62744281		2201	4298	6499	SO:0001819	synonymous_variant	9356				alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding	g.chr11:62744281C>T	AF057039	CCDS8041.1, CCDS31591.1, CCDS44631.1, CCDS44632.1	11q12.3	2013-07-15			ENSG00000197901	ENSG00000197901		"""Solute carriers"""	10970	protein-coding gene	gene with protein product		607582				9762842, 9950961	Standard	NM_004790		Approved	ROAT1, PAHT, OAT1	uc001nwk.3	Q4U2R8	OTTHUMG00000167767	ENST00000377871.3:c.1677G>A	11.37:g.62744281C>T						SLC22A6_ENST00000421062.2_Silent_p.E515E|SLC22A6_ENST00000458333.2_Silent_p.E502E|SLC22A6_ENST00000360421.4_Silent_p.E546E	p.E559E	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN			10	1943	-			559					A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Silent	SNP	ENST00000377871.3	37	c.1677G>A	CCDS31591.1																																																																																				0.557	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396186.1	NM_004790		4	10	0	0	0	1	0	4	10				
AP3D1	8943	broad.mit.edu	37	19	2110168	2110168	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:2110168C>T	ENST00000345016.5	-	26	3276	c.3045G>A	c.(3043-3045)caG>caA	p.Q1015Q	AP3D1_ENST00000356926.4_Silent_p.Q974Q|AP3D1_ENST00000355272.6_Silent_p.Q1077Q|AP3D1_ENST00000350812.6_Silent_p.Q846Q	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	1015					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTTGAGCTTCTGCGCCATGA	0.642																																						ENST00000355272.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(3229-3231)caG>caA		adaptor-related protein complex 3, delta 1 subunit							70.0	71.0	71.0					19																	2110168		2059	4181	6240	SO:0001819	synonymous_variant	8943				eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity	g.chr19:2110168C>T	U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.3045G>A	19.37:g.2110168C>T						AP3D1_ENST00000350812.6_Silent_p.Q846Q|AP3D1_ENST00000356926.4_Silent_p.Q974Q|AP3D1_ENST00000345016.5_Silent_p.Q1015Q	p.Q1077Q	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	28	3437	-		Hepatocellular(1079;0.137)	1015					O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Silent	SNP	ENST00000345016.5	37	c.3231G>A	CCDS42459.1																																																																																				0.642	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1			29	76	0	0	0	1	0	29	76				
AASDH	132949	broad.mit.edu	37	4	57204723	57204723	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:57204723A>G	ENST00000205214.6	-	15	3322	c.3142T>C	c.(3142-3144)Tgg>Cgg	p.W1048R	AASDH_ENST00000451613.1_3'UTR|AASDH_ENST00000434343.2_Missense_Mutation_p.W563R|AASDH_ENST00000513376.1_Missense_Mutation_p.W948R	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	1048					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				TCCAAGATCCACACTTTCCCA	0.433																																						ENST00000205214.6																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(3142-3144)Tgg>Cgg		aminoadipate-semialdehyde dehydrogenase							86.0	80.0	82.0					4																	57204723		2203	4300	6503	SO:0001583	missense	132949				fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding	g.chr4:57204723A>G	AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"""Acyl-CoA synthetase family"""	23993	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 4"""	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.3142T>C	4.37:g.57204723A>G	ENSP00000205214:p.Trp1048Arg					AASDH_ENST00000513376.1_Missense_Mutation_p.W948R|AASDH_ENST00000451613.1_3'UTR|AASDH_ENST00000434343.2_Missense_Mutation_p.W563R	p.W1048R	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN			15	3322	-	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)	1048					A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Missense_Mutation	SNP	ENST00000205214.6	37	c.3142T>C	CCDS3504.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.633518	0.87660	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000434343	T;T;T	0.54071	0.59;0.59;0.59	5.94	5.94	0.96194	Quinonprotein alcohol dehydrogenase-like (2);	0.103719	0.64402	D	0.000001	T	0.71896	0.3394	M	0.72479	2.2	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.74262	-0.3722	10	0.62326	D	0.03	-4.0295	16.4459	0.83932	1.0:0.0:0.0:0.0	.	1048	Q4L235	ACSF4_HUMAN	R	1048;948;563	ENSP00000205214:W1048R;ENSP00000423760:W948R;ENSP00000392158:W563R	ENSP00000205214:W1048R	W	-	1	0	AASDH	56899480	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.532000	0.81985	2.285000	0.76669	0.529000	0.55759	TGG		0.433	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1	NM_181806		34	46	0	0	0	1	0	34	46				
BICD2	23299	broad.mit.edu	37	9	95485048	95485048	+	Missense_Mutation	SNP	C	C	T	rs376208721		TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:95485048C>T	ENST00000375512.3	-	3	563	c.496G>A	c.(496-498)Gac>Aac	p.D166N	BICD2_ENST00000356884.6_Missense_Mutation_p.D166N	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	166					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						TCCTTGATGTCATCCCGCAGG	0.577																																						ENST00000356884.6																			0				cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(496-498)Gac>Aac		bicaudal D homolog 2 (Drosophila)		C	ASN/ASP,ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	112.0	98.0	103.0		496,496	4.8	1.0	9		103	0,8600		0,0,4300	no	missense,missense	BICD2	NM_001003800.1,NM_015250.3	23,23	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	166/856,166/825	95485048	1,13005	2203	4300	6503	SO:0001583	missense	23299				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding	g.chr9:95485048C>T	AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.496G>A	9.37:g.95485048C>T	ENSP00000364662:p.Asp166Asn					BICD2_ENST00000375512.3_Missense_Mutation_p.D166N	p.D166N	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN			3	563	-			166					O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	ENST00000375512.3	37	c.496G>A	CCDS6700.1	.	.	.	.	.	.	.	.	.	.	C	35	5.567522	0.96540	2.27E-4	0.0	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.48201	0.82;0.82	4.83	4.83	0.62350	.	0.051696	0.85682	D	0.000000	T	0.65709	0.2717	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.66308	-0.5956	10	0.48119	T	0.1	-42.0191	15.7894	0.78343	0.0:1.0:0.0:0.0	.	166;166	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	N	166	ENSP00000349351:D166N;ENSP00000364662:D166N	ENSP00000349351:D166N	D	-	1	0	BICD2	94524869	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.714000	0.84703	2.402000	0.81655	0.561000	0.74099	GAC		0.577	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055508.1	NM_015250		20	47	0	0	0	1	0	20	47				
C9orf84	158401	broad.mit.edu	37	9	114490053	114490053	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:114490053G>A	ENST00000318737.4	-	11	1630	c.1502C>T	c.(1501-1503)tCa>tTa	p.S501L	C9orf84_ENST00000394779.3_Missense_Mutation_p.S462L|C9orf84_ENST00000374287.3_Missense_Mutation_p.S501L|C9orf84_ENST00000394777.4_Missense_Mutation_p.S462L	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	501										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTTAATTATTGAAGAGGAAGG	0.328																																						ENST00000394779.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1384-1386)tCa>tTa		chromosome 9 open reading frame 84							130.0	137.0	135.0					9																	114490053		2203	4300	6503	SO:0001583	missense	158401							g.chr9:114490053G>A	AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.1502C>T	9.37:g.114490053G>A	ENSP00000322108:p.Ser501Leu					C9orf84_ENST00000374287.3_Missense_Mutation_p.S501L|C9orf84_ENST00000394777.4_Missense_Mutation_p.S462L|C9orf84_ENST00000318737.4_Missense_Mutation_p.S501L	p.S462L	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN			9	1629	-			501					A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	ENST00000318737.4	37	c.1385C>T	CCDS6781.3	.	.	.	.	.	.	.	.	.	.	G	10.27	1.303042	0.23736	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000394778;ENST00000374287;ENST00000318737	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	5.0	5.0	0.66597	.	0.312739	0.23396	N	0.048628	T	0.51176	0.1659	L	0.32530	0.975	0.24700	N	0.993269	D;B;D	0.61080	0.989;0.301;0.989	P;B;P	0.56563	0.801;0.082;0.801	T	0.45948	-0.9226	10	0.54805	T	0.06	-4.7503	13.6668	0.62401	0.0:0.0:1.0:0.0	.	462;501;462	A6PVK7;Q5VXU9;A2A2V3	.;CI084_HUMAN;.	L	462;462;115;501;501	ENSP00000378259:S462L;ENSP00000378257:S462L;ENSP00000363405:S501L;ENSP00000322108:S501L	ENSP00000322108:S501L	S	-	2	0	C9orf84	113529874	0.993000	0.37304	0.437000	0.26809	0.038000	0.13279	2.432000	0.44784	2.597000	0.87782	0.460000	0.39030	TCA		0.328	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521		39	69	0	0	0	1	0	39	69				
CEP290	80184	broad.mit.edu	37	12	88533332	88533332	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:88533332G>C	ENST00000552810.1	-	4	533	c.190C>G	c.(190-192)Caa>Gaa	p.Q64E	TMTC3_ENST00000266712.6_5'Flank|CEP290_ENST00000309041.7_Missense_Mutation_p.Q64E	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	64					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TCCACTTCTTGAGCTTTCATC	0.299																																						ENST00000552810.1																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						c.(190-192)Caa>Gaa		centrosomal protein 290kDa							75.0	73.0	73.0					12																	88533332		1807	4071	5878	SO:0001583	missense	80184				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	g.chr12:88533332G>C	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.190C>G	12.37:g.88533332G>C	ENSP00000448012:p.Gln64Glu					CEP290_ENST00000309041.7_Missense_Mutation_p.Q64E	p.Q64E	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN			4	533	-			64					Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	ENST00000552810.1	37	c.190C>G	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	G	17.60	3.429474	0.62844	.	.	ENSG00000198707	ENST00000552810;ENST00000309041;ENST00000536998;ENST00000550962;ENST00000552770	T;T;D	0.86164	0.07;0.07;-2.08	5.23	5.23	0.72850	.	0.385935	0.23807	N	0.044373	T	0.79936	0.4532	N	0.24115	0.695	0.80722	D	1	P	0.39022	0.655	B	0.40677	0.337	T	0.77437	-0.2588	10	0.02654	T	1	.	18.8157	0.92076	0.0:0.0:1.0:0.0	.	64	O15078	CE290_HUMAN	E	64;64;64;64;6	ENSP00000448012:Q64E;ENSP00000308021:Q64E;ENSP00000447623:Q64E	ENSP00000308021:Q64E	Q	-	1	0	CEP290	87057463	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.617000	0.67716	2.424000	0.82194	0.655000	0.94253	CAA		0.299	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		9	21	0	0	0	1	0	9	21				
TMCC1	23023	broad.mit.edu	37	3	129546877	129546877	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:129546877C>T	ENST00000393238.3	-	3	685	c.345G>A	c.(343-345)atG>atA	p.M115I	TMCC1_ENST00000426664.2_Start_Codon_SNP_p.M1I	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	115						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						TCCCTCTCTTCATCTTGGGTG	0.547																																						ENST00000393238.3																		PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(343-345)atG>atA		transmembrane and coiled-coil domain family 1							93.0	87.0	89.0					3																	129546877		2203	4300	6503	SO:0001583	missense	23023					integral to membrane		g.chr3:129546877C>T	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.345G>A	3.37:g.129546877C>T	ENSP00000376930:p.Met115Ile					TMCC1_ENST00000426664.2_Start_Codon_SNP_p.M1I	p.M115I	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN			3	685	-			115					A8K5Y3|B4DE04|Q68E06|Q8IXM8	Missense_Mutation	SNP	ENST00000393238.3	37	c.345G>A	CCDS33855.1	.	.	.	.	.	.	.	.	.	.	C	8.796	0.931661	0.18131	.	.	ENSG00000172765	ENST00000393238;ENST00000426664;ENST00000505616;ENST00000513411	T;T;T	0.46063	1.72;1.4;0.88	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.26702	0.0653	N	0.12569	0.235	0.80722	D	1	B	0.21905	0.062	B	0.14023	0.01	T	0.13442	-1.0509	10	0.07644	T	0.81	-24.702	20.1554	0.98111	0.0:1.0:0.0:0.0	.	115	O94876	TMCC1_HUMAN	I	115;1;1;1	ENSP00000376930:M115I;ENSP00000389892:M1I;ENSP00000422544:M1I	ENSP00000376930:M115I	M	-	3	0	TMCC1	131029567	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.591000	0.67536	2.838000	0.97847	0.591000	0.81541	ATG		0.547	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		86	82	0	0	0	1	0	86	82				
TNN	63923	broad.mit.edu	37	1	175116109	175116109	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:175116109C>G	ENST00000239462.4	+	19	3915	c.3802C>G	c.(3802-3804)Cct>Gct	p.P1268A		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1268	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		ATTCTCCATTCCTTACGTGGA	0.517											OREG0013992	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000239462.4																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(3802-3804)Cct>Gct		tenascin N							73.0	72.0	72.0					1																	175116109		2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175116109C>G	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.3802C>G	1.37:g.175116109C>G	ENSP00000239462:p.Pro1268Ala		OREG0013992	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1921		p.P1268A	NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	19	3915	+		Breast(1374;0.000962)	1268			Fibrinogen C-terminal.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.3802C>G	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.341978	0.81911	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.80994	-1.44	5.8	5.8	0.92144	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);	0.159852	0.56097	D	0.000027	D	0.86247	0.5887	L	0.38531	1.155	0.39108	D	0.961412	D	0.57899	0.981	D	0.72338	0.977	D	0.87504	0.2435	10	0.72032	D	0.01	.	19.6456	0.95775	0.0:1.0:0.0:0.0	.	1268	Q9UQP3	TENN_HUMAN	A	1268;1091	ENSP00000239462:P1268A	ENSP00000239462:P1268A	P	+	1	0	TNN	173382732	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.545000	0.60698	2.736000	0.93811	0.579000	0.79373	CCT		0.517	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		6	64	0	0	0	1	0	6	64				
UPF2	26019	broad.mit.edu	37	10	12042009	12042009	+	Splice_Site	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr10:12042009C>T	ENST00000356352.2	-	6	2128		c.e6-1		UPF2_ENST00000397053.2_Splice_Site|UPF2_ENST00000357604.5_Splice_Site			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)						gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TCTTCTTGTTCTAATGTAAAA	0.333																																						ENST00000356352.2																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56						c.e6-1		UPF2 regulator of nonsense transcripts homolog (yeast)							98.0	88.0	92.0					10																	12042009		2203	4300	6503	SO:0001630	splice_region_variant	26019				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding	g.chr10:12042009C>T	AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.1655-1G>A	10.37:g.12042009C>T						UPF2_ENST00000357604.5_Splice_Site|UPF2_ENST00000397053.2_Splice_Site				Q9HAU5	RENT2_HUMAN			6	2128	-		Renal(717;0.228)						A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Splice_Site	SNP	ENST00000356352.2	37		CCDS7086.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.211570	0.79240	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000379172;ENST00000397053;ENST00000313977	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2048	0.89851	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	UPF2	12082015	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.417000	0.80156	2.455000	0.83008	0.462000	0.41574	.		0.333	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1		Intron	26	32	0	0	0	1	0	26	32				
CABP7	164633	broad.mit.edu	37	22	30125495	30125495	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr22:30125495C>T	ENST00000216144.3	+	5	926	c.585C>T	c.(583-585)atC>atT	p.I195I		NM_182527.2	NP_872333.1	Q86V35	CABP7_HUMAN	calcium binding protein 7	195						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)			lung(1)|skin(3)	4			OV - Ovarian serous cystadenocarcinoma(5;0.00442)|Epithelial(10;0.215)|all cancers(5;0.233)			CCTTCGCCATCGCCTTCATCA	0.637																																						ENST00000216144.3																			0				lung(1)|skin(3)	4						c.(583-585)atC>atT		calcium binding protein 7							102.0	86.0	91.0					22																	30125495		2203	4300	6503	SO:0001819	synonymous_variant	164633					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	g.chr22:30125495C>T	BC051805	CCDS13867.1	22q12.2	2013-01-10			ENSG00000100314	ENSG00000100314		"""EF-hand domain containing"""	20834	protein-coding gene	gene with protein product						11785943	Standard	NM_182527		Approved	MGC57793	uc003agl.3	Q86V35	OTTHUMG00000151282	ENST00000216144.3:c.585C>T	22.37:g.30125495C>T							p.I195I	NM_182527.2	NP_872333.1	Q86V35	CABP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00442)|Epithelial(10;0.215)|all cancers(5;0.233)		5	926	+			195						Silent	SNP	ENST00000216144.3	37	c.585C>T	CCDS13867.1																																																																																				0.637	CABP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322080.1	NM_182527		102	99	0	0	0	1	0	102	99				
MAGEA10	4109	broad.mit.edu	37	X	151304050	151304050	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chrX:151304050C>G	ENST00000370323.4	-	4	359	c.43G>C	c.(43-45)Gat>Cat	p.D15H	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Missense_Mutation_p.D15H	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	15						nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GATTGAAGATCTTCTTCAGGC	0.582																																						ENST00000370323.4																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(43-45)Gat>Cat		melanoma antigen family A, 10							85.0	87.0	86.0					X																	151304050		2202	4299	6501	SO:0001583	missense	4109							g.chrX:151304050C>G		CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"""MAGE-10 antigen"", ""melanoma-associated antigen 10"", ""cancer/testis antigen family 1, member 10"""	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.43G>C	X.37:g.151304050C>G	ENSP00000359347:p.Asp15His					MAGEA10_ENST00000244096.3_Missense_Mutation_p.D15H|RP11-1007I13.4_ENST00000509345.2_RNA	p.D15H	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN			4	359	-	Acute lymphoblastic leukemia(192;6.56e-05)		15						Missense_Mutation	SNP	ENST00000370323.4	37	c.43G>C	CCDS14705.1	.	.	.	.	.	.	.	.	.	.	C	7.201	0.593451	0.13875	.	.	ENSG00000124260	ENST00000370323;ENST00000244096;ENST00000444834;ENST00000427322	T;T;T;T	0.04275	3.66;3.66;3.66;3.66	2.54	-0.163	0.13363	Melanoma associated antigen, MAGE, N-terminal (1);	3.441310	0.00763	N	0.001157	T	0.03136	0.0092	N	0.08118	0	0.09310	N	1	B	0.28208	0.203	B	0.31614	0.133	T	0.35226	-0.9797	10	0.32370	T	0.25	.	2.764	0.05315	0.0:0.4567:0.2614:0.2819	.	15	P43363	MAGAA_HUMAN	H	15	ENSP00000359347:D15H;ENSP00000244096:D15H;ENSP00000406161:D15H;ENSP00000391977:D15H	ENSP00000244096:D15H	D	-	1	0	MAGEA10	151054706	0.000000	0.05858	0.000000	0.03702	0.522000	0.34438	-0.150000	0.10189	-0.132000	0.11557	0.292000	0.19580	GAT		0.582	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060916.3	NM_021048		69	38	0	0	0	1	0	69	38				
RNASEL	6041	broad.mit.edu	37	1	182555618	182555618	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:182555618C>T	ENST00000367559.3	-	2	577	c.324G>A	c.(322-324)ctG>ctA	p.L108L	RNASEL_ENST00000444138.1_Silent_p.L108L|RNASEL_ENST00000539397.1_Silent_p.L108L	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	108					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mRNA processing (GO:0006397)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						GGAAAAGTTTCAGCAGCTTCA	0.493																																						ENST00000367559.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						c.(322-324)ctG>ctA		ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)							53.0	53.0	53.0					1																	182555618		2203	4300	6503	SO:0001819	synonymous_variant	6041				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding	g.chr1:182555618C>T	L10381	CCDS1347.1	1q25	2013-01-10			ENSG00000135828	ENSG00000135828	3.1.26.-	"""Ankyrin repeat domain containing"""	10050	protein-coding gene	gene with protein product		180435	"""prostate cancer 1"""	RNS4, PRCA1		7514564	Standard	NM_021133		Approved		uc009wxz.2	Q05823	OTTHUMG00000035213	ENST00000367559.3:c.324G>A	1.37:g.182555618C>T						RNASEL_ENST00000539397.1_Silent_p.L108L|RNASEL_ENST00000444138.1_Silent_p.L108L	p.L108L	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN			2	577	-			108					Q5W0L2|Q6AI46	Silent	SNP	ENST00000367559.3	37	c.324G>A	CCDS1347.1																																																																																				0.493	RNASEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085189.1	NM_021133		20	29	0	0	0	1	0	20	29				
DOCK5	80005	broad.mit.edu	37	8	25191669	25191669	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr8:25191669G>C	ENST00000276440.7	+	21	2193	c.2149G>C	c.(2149-2151)Gaa>Caa	p.E717Q		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	717					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TCCTGTACTTGAAACCTACAT	0.378																																					Pancreas(145;34 1887 3271 10937 30165)	ENST00000276440.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(2149-2151)Gaa>Caa		dedicator of cytokinesis 5							154.0	151.0	152.0					8																	25191669		2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25191669G>C		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.2149G>C	8.37:g.25191669G>C	ENSP00000276440:p.Glu717Gln						p.E717Q	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	21	2193	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	717					B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.2149G>C	CCDS6047.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.112561|5.112561	0.94339|0.94339	.|.	.|.	ENSG00000147459|ENSG00000147459	ENST00000276440|ENST00000444569	T|.	0.20738|.	2.05|.	6.04|6.04	6.04|6.04	0.98038|0.98038	Armadillo-type fold (1);|.	0.103873|.	0.64402|.	D|.	0.000004|.	T|.	0.77505|.	0.4140|.	M|M	0.72576|0.72576	2.205|2.205	0.80722|0.80722	D|D	1|1	D;P;D|.	0.69078|.	0.995;0.866;0.997|.	D;P;D|.	0.66351|.	0.916;0.688;0.943|.	T|.	0.74325|.	-0.3702|.	10|.	0.72032|.	D|.	0.01|.	.|.	20.5792|20.5792	0.99380|0.99380	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	707;492;717|.	D3DSS6;Q68DL4;Q9H7D0|.	.;.;DOCK5_HUMAN|.	Q|S	717|488	ENSP00000276440:E717Q|.	ENSP00000276440:E717Q|.	E|X	+|+	1|2	0|2	DOCK5|DOCK5	25247586|25247586	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.962000|0.962000	0.63368|0.63368	9.869000|9.869000	0.99810|0.99810	2.873000|2.873000	0.98535|0.98535	0.561000|0.561000	0.74099|0.74099	GAA|TGA		0.378	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		7	106	0	0	0	1	0	7	106				
PSPN	5623	broad.mit.edu	37	19	6375832	6375832	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:6375832G>A	ENST00000245810.1	-	1	28	c.29C>T	c.(28-30)tCc>tTc	p.S10F	PSPN_ENST00000597721.1_Missense_Mutation_p.S10F	NM_004158.2	NP_004149.1	O60542	PSPN_HUMAN	persephin	10					axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|central nervous system development (GO:0007417)|nervous system development (GO:0007399)	extracellular space (GO:0005615)	receptor binding (GO:0005102)			lung(1)|ovary(1)|skin(1)	3						GAGCAGCAGGGAGCCCAGCAG	0.642																																						ENST00000597721.1																			0				lung(1)|ovary(1)|skin(1)	3						c.(28-30)tCc>tTc		persephin							40.0	44.0	42.0					19																	6375832		2203	4300	6503	SO:0001583	missense	5623				axon guidance|central nervous system development		growth factor activity	g.chr19:6375832G>A	AF040962	CCDS12164.1	19p13.3	2014-01-30				ENSG00000125650		"""Endogenous ligands"""	9579	protein-coding gene	gene with protein product		602921				10072588	Standard	NM_004158		Approved	PSP	uc010xja.2	O60542		ENST00000245810.1:c.29C>T	19.37:g.6375832G>A	ENSP00000245810:p.Ser10Phe					PSPN_ENST00000245810.1_Missense_Mutation_p.S10F	p.S10F			O60542	PSPN_HUMAN			1	3237	-			10						Missense_Mutation	SNP	ENST00000245810.1	37	c.29C>T	CCDS12164.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.566703	0.28003	.	.	ENSG00000125650	ENST00000545374;ENST00000245810	D	0.88664	-2.41	3.45	-1.96	0.07525	.	1.837040	0.03473	N	0.213884	T	0.76076	0.3937	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.64415	-0.6413	10	0.09590	T	0.72	-6.0633	7.0187	0.24902	0.115:0.5095:0.3756:0.0	.	10	O60542	PSPN_HUMAN	F	10	ENSP00000245810:S10F	ENSP00000245810:S10F	S	-	2	0	PSPN	6326832	0.000000	0.05858	0.006000	0.13384	0.039000	0.13416	-0.747000	0.04823	-0.282000	0.09128	0.313000	0.20887	TCC		0.642	PSPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398032.1	NM_004158		29	45	0	0	0	1	0	29	45				
TMPRSS11F	389208	broad.mit.edu	37	4	68930409	68930409	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:68930409C>T	ENST00000356291.2	-	8	1068	c.1009G>A	c.(1009-1011)Gat>Aat	p.D337N	UBA6-AS1_ENST00000500538.2_RNA|UBA6-AS1_ENST00000499180.2_RNA|UBA6-AS1_ENST00000511571.1_RNA|RP11-35D5.1_ENST00000600441.1_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	337	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						TCACCATCATCTACAATGGAT	0.368																																						ENST00000356291.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						c.(1009-1011)Gat>Aat		transmembrane protease, serine 11F							70.0	70.0	70.0					4																	68930409		2203	4300	6503	SO:0001583	missense	389208				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68930409C>T	AK122625	CCDS3520.1	4q13.2	2010-04-13			ENSG00000198092	ENSG00000198092		"""Serine peptidases / Transmembrane"""	29994	protein-coding gene	gene with protein product							Standard	NM_207407		Approved	FLJ16046	uc003hdt.1	Q6ZWK6	OTTHUMG00000129307	ENST00000356291.2:c.1009G>A	4.37:g.68930409C>T	ENSP00000348639:p.Asp337Asn					RP11-453E17.1_ENST00000511571.1_RNA|RP11-453E17.1_ENST00000500538.2_RNA|RP11-453E17.1_ENST00000499180.2_RNA	p.D337N	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN			8	1068	-			337			Peptidase S1.		A8MXX2	Missense_Mutation	SNP	ENST00000356291.2	37	c.1009G>A	CCDS3520.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.036292	0.35893	.	.	ENSG00000198092	ENST00000356291	D	0.88124	-2.34	5.92	5.92	0.95590	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.090434	0.48286	D	0.000191	D	0.87083	0.6089	N	0.16066	0.365	0.40929	D	0.984372	D	0.76494	0.999	D	0.85130	0.997	D	0.84774	0.0769	10	0.21014	T	0.42	.	15.8344	0.78787	0.0:1.0:0.0:0.0	.	337	Q6ZWK6	TM11F_HUMAN	N	337	ENSP00000348639:D337N	ENSP00000348639:D337N	D	-	1	0	TMPRSS11F	68613004	0.999000	0.42202	1.000000	0.80357	0.927000	0.56198	2.344000	0.44010	2.822000	0.97130	0.650000	0.86243	GAT		0.368	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251439.1	NM_207407		30	41	0	0	0	1	0	30	41				
HELT	391723	broad.mit.edu	37	4	185940936	185940936	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:185940936G>C	ENST00000515777.1	+	3	256	c.168G>C	c.(166-168)gaG>gaC	p.E56D	HELT_ENST00000505610.1_Missense_Mutation_p.E56D|HELT_ENST00000338875.4_Missense_Mutation_p.E141D			A6NFD8	HELT_HUMAN	helt bHLH transcription factor	56	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				central nervous system development (GO:0007417)|GABAergic neuron differentiation in basal ganglia (GO:0021858)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	14		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		AGATCCTCGAGATGACCGTTC	0.642																																						ENST00000338875.4																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	14						c.(421-423)gaG>gaC		helt bHLH transcription factor							30.0	31.0	31.0					4																	185940936		2203	4300	6503	SO:0001583	missense	391723						DNA binding	g.chr4:185940936G>C	BC144567	CCDS75214.1, CCDS75215.1	4q35.1	2014-07-17	2011-09-12		ENSG00000187821	ENSG00000187821		"""Basic helix-loop-helix proteins"""	33783	protein-coding gene	gene with protein product	"""megane bHLH factor"", ""HES-like"""		"""Hey-like transcription factor (zebrafish)"", ""HES/HEY-like transcription factor"""			14764602, 17611227	Standard	XM_005262989		Approved	HESL, HCM1228, Mgn, bHLHb44, MEGANE	uc011ckq.2	A6NFD8	OTTHUMG00000160484	ENST00000515777.1:c.168G>C	4.37:g.185940936G>C	ENSP00000426033:p.Glu56Asp					HELT_ENST00000515777.1_Missense_Mutation_p.E56D|HELT_ENST00000505610.1_Missense_Mutation_p.E56D	p.E141D	NM_001029887.1	NP_001025058.1	A6NFD8	HELT_HUMAN		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	3	423	+		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	141			Helix-loop-helix motif.		B2RTS5|B7ZMI7|B7ZMI8	Missense_Mutation	SNP	ENST00000515777.1	37	c.423G>C		.	.	.	.	.	.	.	.	.	.	G	23.7	4.441918	0.83993	.	.	ENSG00000187821	ENST00000505610;ENST00000515777;ENST00000338875	D;D;D	0.98280	-4.84;-4.84;-4.84	4.89	4.89	0.63831	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.98507	0.9502	L	0.56340	1.77	0.51233	D	0.999918	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.81914	0.995;0.994;0.994	D	0.99870	1.1095	10	0.87932	D	0	.	17.8433	0.88721	0.0:0.0:1.0:0.0	.	141;56;56	A6NFD8;B7ZMI7;A6NFD8-2	HELT_HUMAN;.;.	D	56;56;141	ENSP00000422140:E56D;ENSP00000426033:E56D;ENSP00000343464:E141D	ENSP00000343464:E141D	E	+	3	2	HELT	186177930	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.781000	0.55394	2.551000	0.86045	0.561000	0.74099	GAG		0.642	HELT-002	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000360792.1	NM_001300781		3	53	0	0	0	1	0	3	53				
AFF4	27125	broad.mit.edu	37	5	132270026	132270026	+	Nonsense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr5:132270026G>C	ENST00000265343.5	-	3	1110	c.731C>G	c.(730-732)tCa>tGa	p.S244*	AFF4_ENST00000491831.1_5'UTR|AFF4_ENST00000378595.3_Nonsense_Mutation_p.S244*	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	244	Ser-rich.				spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATTGGACTTTGACATCAATGA	0.507																																					Ovarian(126;889 1733 2942 10745 11605)	ENST00000265343.5																		SEPT8/AFF4(2)	0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43						c.(730-732)tCa>tGa		AF4/FMR2 family, member 4							158.0	147.0	150.0					5																	132270026		2203	4300	6503	SO:0001587	stop_gained	27125				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr5:132270026G>C	AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"""ALL1 fused gene from 5q31"""	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.731C>G	5.37:g.132270026G>C	ENSP00000265343:p.Ser244*					AFF4_ENST00000378595.3_Nonsense_Mutation_p.S244*|AFF4_ENST00000491831.1_5'UTR	p.S244*	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		3	1110	-		all_cancers(142;0.145)|Breast(839;0.198)	244			Ser-rich.		B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Nonsense_Mutation	SNP	ENST00000265343.5	37	c.731C>G	CCDS4164.1	.	.	.	.	.	.	.	.	.	.	G	39	7.682723	0.98431	.	.	ENSG00000072364	ENST00000265343;ENST00000378595	.	.	.	5.57	5.57	0.84162	.	0.179058	0.50627	D	0.000106	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-7.2672	19.5374	0.95260	0.0:0.0:1.0:0.0	.	.	.	.	X	244	.	ENSP00000265343:S244X	S	-	2	0	AFF4	132297925	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.517000	0.98020	2.627000	0.88993	0.557000	0.71058	TCA		0.507	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133049.1	NM_014423		49	22	0	0	0	1	0	49	22				
ABCA7	10347	broad.mit.edu	37	19	1043403	1043403	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:1043403G>A	ENST00000263094.6	+	9	1092	c.861G>A	c.(859-861)ctG>ctA	p.L287L	ABCA7_ENST00000433129.1_Silent_p.L287L|ABCA7_ENST00000435683.2_Silent_p.L149L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	287					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)	p.L287L(1)		NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGACGCCTGAAGCCTCTGA	0.662																																						ENST00000263094.6																			1	Substitution - coding silent(1)	p.L287L(1)	pancreas(1)	NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(859-861)ctG>ctA		ATP-binding cassette, sub-family A (ABC1), member 7							59.0	69.0	66.0					19																	1043403		2203	4300	6503	SO:0001819	synonymous_variant	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1043403G>A	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.861G>A	19.37:g.1043403G>A						ABCA7_ENST00000433129.1_Silent_p.L287L|ABCA7_ENST00000435683.2_Silent_p.L149L	p.L287L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1092	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	287					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	ENST00000263094.6	37	c.861G>A	CCDS12055.1																																																																																				0.662	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		51	109	0	0	0	1	0	51	109				
MAP3K1	4214	broad.mit.edu	37	5	56174863	56174863	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr5:56174863C>G	ENST00000399503.3	+	11	2022	c.2022C>G	c.(2020-2022)atC>atG	p.I674M		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	674					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CGGAAAGAATCAAACTTCAGA	0.393																																						ENST00000399503.3																			0				NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57						c.(2020-2022)atC>atG		mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase							119.0	110.0	113.0					5																	56174863		1875	4117	5992	SO:0001583	missense	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56174863C>G	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.2022C>G	5.37:g.56174863C>G	ENSP00000382423:p.Ile674Met						p.I674M	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	11	2022	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	674						Missense_Mutation	SNP	ENST00000399503.3	37	c.2022C>G	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.101107	0.37048	.	.	ENSG00000095015	ENST00000399503	T	0.66638	-0.22	5.33	1.98	0.26296	.	0.270853	0.34133	N	0.004221	T	0.40322	0.1112	N	0.14661	0.345	0.27818	N	0.941918	B	0.22541	0.071	B	0.16722	0.016	T	0.18053	-1.0349	10	0.45353	T	0.12	.	1.3194	0.02113	0.4135:0.2857:0.1224:0.1784	.	674	Q13233	M3K1_HUMAN	M	674	ENSP00000382423:I674M	ENSP00000382423:I674M	I	+	3	3	MAP3K1	56210620	0.996000	0.38824	1.000000	0.80357	0.990000	0.78478	0.347000	0.20014	0.700000	0.31782	0.563000	0.77884	ATC		0.393	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		13	76	0	0	0	1	0	13	76				
NPRL3	8131	broad.mit.edu	37	16	142715	142715	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:142715G>A	ENST00000399953.3	-	10	1442	c.1040C>T	c.(1039-1041)cCg>cTg	p.P347L	NPRL3_ENST00000405960.3_5'UTR|Z69720.2_ENST00000601483.1_RNA|NPRL3_ENST00000399951.3_Missense_Mutation_p.P168L	NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1	NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1	Q12980	NPRL3_HUMAN	nitrogen permease regulator-like 3 (S. cerevisiae)	347					aorta morphogenesis (GO:0035909)|cardiac muscle tissue development (GO:0048738)|palate development (GO:0060021)|ventricular septum development (GO:0003281)		GTPase activator activity (GO:0005096)			endometrium(1)|large_intestine(3)|ovary(2)	6						CTCGGCCAGCGGGGAGTACCT	0.587																																						ENST00000399953.3																			0				endometrium(1)|large_intestine(3)|ovary(2)	6						c.(1039-1041)cCg>cTg		nitrogen permease regulator-like 3 (S. cerevisiae)							48.0	57.0	54.0					16																	142715		2134	4237	6371	SO:0001583	missense	8131						protein binding	g.chr16:142715G>A		CCDS73794.1, CCDS73795.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000103148	ENSG00000103148			14124	protein-coding gene	gene with protein product	"""conserved gene telomeric to alpha globin cluster"""	600928	"""chromosome 16 open reading frame 35"""	C16orf35		8575760	Standard	NM_001243247		Approved	CGTHBA, RMD11, NPR3, MARE, HS-40	uc002cfr.3	Q12980	OTTHUMG00000047792	ENST00000399953.3:c.1040C>T	16.37:g.142715G>A	ENSP00000382834:p.Pro347Leu					NPRL3_ENST00000405960.3_5'UTR|NPRL3_ENST00000399951.3_Missense_Mutation_p.P168L	p.P347L	NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1	NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1	Q12980	NPRL3_HUMAN			10	1442	-			347					D3DU40|Q1W6H0|Q4TT56|Q92469	Missense_Mutation	SNP	ENST00000399953.3	37	c.1040C>T		.	.	.	.	.	.	.	.	.	.	G	16.42	3.118199	0.56505	.	.	ENSG00000103148	ENST00000399953;ENST00000262313;ENST00000399951	.	.	.	4.87	4.87	0.63330	.	0.155370	0.64402	D	0.000018	T	0.72875	0.3515	.	.	.	0.80722	D	1	B;D;D;P	0.71674	0.254;0.998;0.997;0.95	B;P;P;P	0.60286	0.088;0.845;0.872;0.577	T	0.70077	-0.4971	8	0.27082	T	0.32	-12.6885	16.9339	0.86198	0.0:0.0:1.0:0.0	.	269;322;322;347	B7Z220;Q4TT55;B7Z6Q0;Q12980	.;.;.;NPRL3_HUMAN	L	347;322;168	.	ENSP00000262313:P322L	P	-	2	0	NPRL3	82715	1.000000	0.71417	0.616000	0.29078	0.603000	0.37013	9.699000	0.98703	2.418000	0.82041	0.561000	0.74099	CCG		0.587	NPRL3-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001039476		20	19	0	0	0	1	0	20	19				
MYO9A	4649	broad.mit.edu	37	15	72338475	72338475	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr15:72338475G>C	ENST00000356056.5	-	2	902	c.430C>G	c.(430-432)Caa>Gaa	p.Q144E	MYO9A_ENST00000566885.1_Intron|MYO9A_ENST00000564571.1_Missense_Mutation_p.Q144E|RNU2-65P_ENST00000410162.1_RNA|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.Q144E|MYO9A_ENST00000424560.1_Missense_Mutation_p.Q144E	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	144					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TCTTTCTGTTGAGGCTGTGGA	0.393																																						ENST00000356056.5																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(430-432)Caa>Gaa		myosin IXA							98.0	96.0	97.0					15																	72338475		2199	4297	6496	SO:0001583	missense	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72338475G>C	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.430C>G	15.37:g.72338475G>C	ENSP00000348349:p.Gln144Glu					MYO9A_ENST00000566885.1_Intron|MYO9A_ENST00000424560.1_Missense_Mutation_p.Q144E|MYO9A_ENST00000564571.1_Missense_Mutation_p.Q144E|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.Q144E	p.Q144E	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			2	902	-			144					B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.430C>G	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	g	19.46	3.831820	0.71258	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864;ENST00000446448	T;T;T	0.70631	-0.5;-0.5;-0.5	5.7	5.7	0.88788	Myosin head, motor domain (1);	.	.	.	.	T	0.68247	0.2980	L	0.47190	1.495	0.39810	D	0.972688	B;B;B	0.16802	0.001;0.007;0.019	B;B;B	0.17098	0.003;0.008;0.017	T	0.64071	-0.6493	9	0.49607	T	0.09	.	19.8954	0.96955	0.0:0.0:1.0:0.0	.	144;144;144	B2RTY4-3;B7WP69;B2RTY4	.;.;MYO9A_HUMAN	E	144	ENSP00000348349:Q144E;ENSP00000399162:Q144E;ENSP00000398250:Q144E	ENSP00000261864:Q144E	Q	-	1	0	MYO9A	70125529	1.000000	0.71417	0.963000	0.40424	0.974000	0.67602	6.250000	0.72435	2.698000	0.92095	0.579000	0.79373	CAA		0.393	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		26	84	0	0	0	1	0	26	84				
WSCD1	23302	broad.mit.edu	37	17	5984266	5984266	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr17:5984266G>A	ENST00000574946.1	+	2	678	c.288G>A	c.(286-288)cgG>cgA	p.R96R	WSCD1_ENST00000574232.1_Silent_p.R96R|WSCD1_ENST00000539421.1_Silent_p.R96R|WSCD1_ENST00000317744.5_Silent_p.R96R|WSCD1_ENST00000573634.1_Intron			Q658N2	WSCD1_HUMAN	WSC domain containing 1	96						integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						cccggccccggcccggccccc	0.711																																						ENST00000574946.1																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						c.(286-288)cgG>cgA		WSC domain containing 1							4.0	5.0	4.0					17																	5984266		1966	3897	5863	SO:0001819	synonymous_variant	23302					integral to membrane	sulfotransferase activity	g.chr17:5984266G>A		CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314			29060	protein-coding gene	gene with protein product							Standard	XM_005256572		Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.288G>A	17.37:g.5984266G>A						WSCD1_ENST00000574232.1_Silent_p.R96R|WSCD1_ENST00000573634.1_Intron|WSCD1_ENST00000539421.1_Silent_p.R96R|WSCD1_ENST00000317744.5_Silent_p.R96R	p.R96R			Q658N2	WSCD1_HUMAN			2	678	+			96					A8K0N8|D3DTM3|O60276|Q96G45	Silent	SNP	ENST00000574946.1	37	c.288G>A	CCDS32538.1																																																																																				0.711	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438965.4	NM_015253		8	7	0	0	0	1	0	8	7				
CACNA1F	778	broad.mit.edu	37	X	49070718	49070718	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chrX:49070718C>G	ENST00000376265.2	-	30	3703	c.3642G>C	c.(3640-3642)caG>caC	p.Q1214H	CACNA1F_ENST00000323022.5_Missense_Mutation_p.Q1203H|CACNA1F_ENST00000376251.1_Missense_Mutation_p.Q1149H	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1214					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	AGGGAGCAGTCTGCTCATAGT	0.527																																						ENST00000376265.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85						c.(3640-3642)caG>caC		calcium channel, voltage-dependent, L type, alpha 1F subunit	Verapamil(DB00661)						130.0	98.0	109.0					X																	49070718		2203	4300	6503	SO:0001583	missense	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49070718C>G	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.3642G>C	X.37:g.49070718C>G	ENSP00000365441:p.Gln1214His					CACNA1F_ENST00000376251.1_Missense_Mutation_p.Q1149H|CACNA1F_ENST00000323022.5_Missense_Mutation_p.Q1203H	p.Q1214H	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN			30	3703	-			1214					A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	c.3642G>C	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.450857	0.63290	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.97598	-4.45;-4.45;-4.45	5.48	4.61	0.57282	.	0.107611	0.64402	N	0.000004	D	0.98682	0.9558	M	0.93197	3.39	0.53005	D	0.999962	D;D	0.76494	0.998;0.999	D;D	0.81914	0.994;0.995	D	0.99038	1.0823	10	0.87932	D	0	.	12.2652	0.54674	0.0:0.9141:0.0:0.0859	.	1203;1214	F5CIQ9;O60840	.;CAC1F_HUMAN	H	1149;1203;1214	ENSP00000365427:Q1149H;ENSP00000321618:Q1203H;ENSP00000365441:Q1214H	ENSP00000321618:Q1203H	Q	-	3	2	CACNA1F	48957662	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	4.018000	0.57174	1.075000	0.40932	0.523000	0.50628	CAG		0.527	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		49	18	0	0	0	1	0	49	18				
IGFBP5	3488	broad.mit.edu	37	2	217543630	217543630	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:217543630C>T	ENST00000233813.4	-	2	1259	c.510G>A	c.(508-510)gaG>gaA	p.E170E		NM_000599.3	NP_000590.1	P24593	IBP5_HUMAN	insulin-like growth factor binding protein 5	170					cellular protein metabolic process (GO:0044267)|cellular response to cAMP (GO:0071320)|cellular response to organic cyclic compound (GO:0071407)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hair follicle morphogenesis (GO:0031069)|intracellular signal transduction (GO:0035556)|mammary gland involution (GO:0060056)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|striated muscle cell differentiation (GO:0051146)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|insulin-like growth factor binding protein complex (GO:0016942)	insulin-like growth factor I binding (GO:0031994)			endometrium(1)|large_intestine(3)|lung(1)	5		Renal(323;0.0822)		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGCAGTGTTCTCGGCTCCCC	0.582																																						ENST00000233813.4																			0				endometrium(1)|large_intestine(3)|lung(1)	5						c.(508-510)gaG>gaA		insulin-like growth factor binding protein 5							100.0	94.0	96.0					2																	217543630		2203	4300	6503	SO:0001819	synonymous_variant	3488				negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction		insulin-like growth factor I binding	g.chr2:217543630C>T		CCDS2405.1	2q35	2014-09-16			ENSG00000115461	ENSG00000115461			5474	protein-coding gene	gene with protein product		146734				7511611	Standard	NM_000599		Approved		uc002vgj.4	P24593	OTTHUMG00000133058	ENST00000233813.4:c.510G>A	2.37:g.217543630C>T							p.E170E	NM_000599.3	NP_000590.1	P24593	IBP5_HUMAN		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	1259	-		Renal(323;0.0822)	170					Q5U0A3	Silent	SNP	ENST00000233813.4	37	c.510G>A	CCDS2405.1																																																																																				0.582	IGFBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256674.2	NM_000599		28	50	0	0	0	1	0	28	50				
WDR59	79726	broad.mit.edu	37	16	74921637	74921637	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:74921637G>A	ENST00000262144.6	-	23	2493	c.2363C>T	c.(2362-2364)tCt>tTt	p.S788F		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	788										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						GCAGGAACCAGAAGAGGTAAA	0.478																																						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.(2362-2364)tCt>tTt		WD repeat domain 59							99.0	85.0	89.0					16																	74921637		2198	4300	6498	SO:0001583	missense	79726							g.chr16:74921637G>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.2363C>T	16.37:g.74921637G>A	ENSP00000262144:p.Ser788Phe						p.S788F	NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN			23	2493	-			788					B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Missense_Mutation	SNP	ENST00000262144.6	37	c.2363C>T	CCDS32488.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.108402	0.56291	.	.	ENSG00000103091	ENST00000262144	T	0.69435	-0.4	5.65	5.65	0.86999	.	0.107611	0.64402	D	0.000003	T	0.79052	0.4381	L	0.51422	1.61	0.80722	D	1	D;D	0.69078	0.995;0.997	D;D	0.80764	0.986;0.994	T	0.77566	-0.2540	10	0.46703	T	0.11	-19.4685	19.7273	0.96170	0.0:0.0:1.0:0.0	.	788;233	Q6PJI9;Q6PJI9-4	WDR59_HUMAN;.	F	788	ENSP00000262144:S788F	ENSP00000262144:S788F	S	-	2	0	WDR59	73479138	1.000000	0.71417	0.999000	0.59377	0.675000	0.39556	9.000000	0.93564	2.653000	0.90120	0.650000	0.86243	TCT		0.478	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410601.3	NM_030581		16	39	0	0	0	1	0	16	39				
CYP2D7	1564	broad.mit.edu	37	22	42538841	42538841	+	RNA	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr22:42538841C>G	ENST00000428786.1	-	0	0				CYP2D7P1_ENST00000424775.1_RNA|CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000358097.4_RNA																							AGAAGCGCCTCTGCTCGCGCC	0.697																																						ENST00000424775.1																			0				endometrium(1)	1																																														1564							g.chr22:42538841C>G																													22.37:g.42538841C>G						CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000358097.4_RNA								0	469	-									RNA	SNP	ENST00000428786.1	37			.	.	.	.	.	.	.	.	.	.	C	15.60	2.881901	0.51908	.	.	ENSG00000205702	ENST00000428297;ENST00000381321;ENST00000436260	.	.	.	3.26	3.26	0.37387	.	.	.	.	.	T	0.75117	0.3806	.	.	.	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.70935	0.971;0.954	T	0.77427	-0.2592	7	0.72032	D	0.01	.	10.3623	0.44001	0.0:1.0:0.0:0.0	.	131;41	Q6XP50;F5H167	.;.	H	130;80;41	.	ENSP00000446103:Q80H	Q	-	3	2	CYP2D7P1	40868785	0.989000	0.36119	0.997000	0.53966	0.462000	0.32619	1.262000	0.32992	2.130000	0.65690	0.508000	0.49915	CAG		0.697	RP4-669P10.16-001	KNOWN	basic|exp_conf	sense_intronic	sense_intronic	OTTHUMT00000320534.1			47	48	0	0	0	1	0	47	48				
NLRP12	91662	broad.mit.edu	37	19	54313632	54313632	+	Silent	SNP	C	C	T	rs528087095		TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:54313632C>T	ENST00000324134.6	-	3	1449	c.1281G>A	c.(1279-1281)acG>acA	p.T427T	NLRP12_ENST00000345770.5_Silent_p.T427T|NLRP12_ENST00000535162.1_Silent_p.T427T|NLRP12_ENST00000351894.4_Silent_p.T427T|NLRP12_ENST00000391772.1_Silent_p.T427T|NLRP12_ENST00000354278.3_Silent_p.T427T|NLRP12_ENST00000391775.3_Silent_p.T427T|NLRP12_ENST00000391773.1_Silent_p.T427T	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	427	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TGGTCCTGGACGTCTGTCTCA	0.642													C|||	1	0.000199681	0.0	0.0	5008	,	,		15969	0.001		0.0	False		,,,				2504	0.0					ENST00000324134.6																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80						c.(1279-1281)acG>acA		NLR family, pyrin domain containing 12							90.0	90.0	90.0					19																	54313632		2203	4300	6503	SO:0001819	synonymous_variant	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54313632C>T	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.1281G>A	19.37:g.54313632C>T						NLRP12_ENST00000391772.1_Silent_p.T427T|NLRP12_ENST00000345770.5_Silent_p.T427T|NLRP12_ENST00000351894.4_Silent_p.T427T|NLRP12_ENST00000354278.3_Silent_p.T427T|NLRP12_ENST00000391775.3_Silent_p.T427T|NLRP12_ENST00000535162.1_Silent_p.T427T|NLRP12_ENST00000391773.1_Silent_p.T427T	p.T427T	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	3	1449	-	Ovarian(34;0.19)		427			NACHT.		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Silent	SNP	ENST00000324134.6	37	c.1281G>A	CCDS12864.1																																																																																				0.642	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		108	143	0	0	0	1	0	108	143				
FBXO25	26260	broad.mit.edu	37	8	408518	408518	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr8:408518G>C	ENST00000276326.5	+	8	929	c.810G>C	c.(808-810)aaG>aaC	p.K270N	FBXO25_ENST00000519376.1_3'UTR|FBXO25_ENST00000350302.3_Missense_Mutation_p.K270N|FBXO25_ENST00000352684.2_Missense_Mutation_p.K203N|FBXO25_ENST00000382824.1_Missense_Mutation_p.K203N	NM_183421.1	NP_904357.1	Q8TCJ0	FBX25_HUMAN	F-box protein 25	270	F-box.				protein ubiquitination (GO:0016567)	nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)		AGCTGTGGAAGAAGCTTTGTC	0.517																																						ENST00000352684.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						c.(607-609)aaG>aaC		F-box protein 25							122.0	104.0	110.0					8																	408518		2203	4300	6503	SO:0001583	missense	26260					nucleus|SCF ubiquitin ligase complex	actin binding|ubiquitin-protein ligase activity	g.chr8:408518G>C	AF174605	CCDS5952.1, CCDS5953.1, CCDS5954.1	8p23.3	2007-03-30	2004-06-15		ENSG00000147364	ENSG00000147364		"""F-boxes /  ""other"""""	13596	protein-coding gene	gene with protein product		609098	"""F-box only protein 25"""			10531035, 10531037	Standard	NM_012173		Approved	FBX25	uc003wox.3	Q8TCJ0	OTTHUMG00000090341	ENST00000276326.5:c.810G>C	8.37:g.408518G>C	ENSP00000276326:p.Lys270Asn					FBXO25_ENST00000519376.1_3'UTR|FBXO25_ENST00000350302.3_Missense_Mutation_p.K270N|FBXO25_ENST00000382824.1_Missense_Mutation_p.K203N|FBXO25_ENST00000276326.5_Missense_Mutation_p.K270N	p.K203N	NM_012173.3	NP_036305.2	Q8TCJ0	FBX25_HUMAN		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)	7	1026	+		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)	270					Q6PJ83|Q7Z4V4|Q9UKB8	Missense_Mutation	SNP	ENST00000276326.5	37	c.609G>C	CCDS5953.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.571144	0.45798	.	.	ENSG00000147364	ENST00000350302;ENST00000352684;ENST00000276326;ENST00000447233;ENST00000382824	T;T;T;T	0.28069	1.63;1.63;1.63;1.63	4.32	4.32	0.51571	F-box domain, Skp2-like (1);	0.095538	0.64402	D	0.000001	T	0.40791	0.1131	M	0.68593	2.085	0.54753	D	0.999981	P;P;D	0.58620	0.675;0.953;0.983	B;P;P	0.52646	0.265;0.705;0.705	T	0.37798	-0.9690	10	0.87932	D	0	-9.8	8.5085	0.33201	0.1095:0.0:0.8905:0.0	.	203;270;270	Q8TCJ0-3;Q8TCJ0-2;Q8TCJ0	.;.;FBX25_HUMAN	N	270;203;270;242;203	ENSP00000342077:K270N;ENSP00000341345:K203N;ENSP00000276326:K270N;ENSP00000372274:K203N	ENSP00000276326:K270N	K	+	3	2	FBXO25	398518	1.000000	0.71417	0.939000	0.37840	0.914000	0.54420	2.776000	0.47709	2.089000	0.63090	0.591000	0.81541	AAG		0.517	FBXO25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206710.2	NM_012173		7	75	0	0	0	1	0	7	75				
FRYL	285527	broad.mit.edu	37	4	48559474	48559474	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:48559474G>T	ENST00000503238.1	-	31	4120	c.4121C>A	c.(4120-4122)gCa>gAa	p.A1374E	FRYL_ENST00000507711.1_Missense_Mutation_p.A1374E|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000358350.4_Missense_Mutation_p.A1374E|FRYL_ENST00000537810.1_Missense_Mutation_p.A1374E			O94915	FRYL_HUMAN	FRY-like	1374					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TTTTACCTTTGCTGTCATATA	0.403																																						ENST00000358350.4																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(4120-4122)gCa>gAa		FRY-like							141.0	133.0	136.0					4																	48559474		1854	4115	5969	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48559474G>T	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.4121C>A	4.37:g.48559474G>T	ENSP00000426064:p.Ala1374Glu					FRYL_ENST00000507711.1_Missense_Mutation_p.A1374E|FRYL_ENST00000503238.1_Missense_Mutation_p.A1374E|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.A1374E	p.A1374E	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN			34	4725	-			1374					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.4121C>A	CCDS43227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.094602|5.094602	0.94149|0.94149	.|.	.|.	ENSG00000075539|ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711|ENST00000514617	T;T;T;T|.	0.50548|.	1.69;1.69;1.69;0.74|.	5.87|5.87	5.87|5.87	0.94306|0.94306	Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77961|0.77961	0.4209|0.4209	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	D;P;D;D|.	0.89917|.	0.997;0.741;1.0;0.999|.	D;B;D;D|.	0.79108|.	0.992;0.296;0.986;0.982|.	T|T	0.75758|0.75758	-0.3205|-0.3205	10|5	0.32370|.	T|.	0.25|.	.|.	20.207|20.207	0.98280|0.98280	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1374;205;1374;1374|.	F2Z2S2;Q6ZR29;O94915;F5GX82|.	.;.;FRYL_HUMAN;.|.	E|R	1374|244	ENSP00000426064:A1374E;ENSP00000351113:A1374E;ENSP00000441114:A1374E;ENSP00000421584:A1374E|.	ENSP00000351113:A1374E|.	A|S	-|-	2|3	0|2	FRYL|FRYL	48254231|48254231	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.865000|0.865000	0.49528|0.49528	9.830000|9.830000	0.99415|0.99415	2.765000|2.765000	0.95021|0.95021	0.650000|0.650000	0.86243|0.86243	GCA|AGC		0.403	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			34	76	1	0	5.8336e-16	1	6.078e-16	34	76				
ERCC6L2	375748	broad.mit.edu	37	9	98677984	98677984	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:98677984C>G	ENST00000288985.7	+	5	1161	c.856C>G	c.(856-858)Cat>Gat	p.H286D	ERCC6L2_ENST00000466840.1_3'UTR|ERCC6L2_ENST00000437817.1_Missense_Mutation_p.H97D	NM_001010895.2	NP_001010895.1	Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2	286	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)										GGATGAAGCTCATAGAATCAA	0.373																																						ENST00000288985.7																			0											c.(856-858)Cat>Gat		excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2							101.0	103.0	102.0					9																	98677984		2203	4300	6503	SO:0001583	missense	375748				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding	g.chr9:98677984C>G	BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"""chromosome 9 open reading frame 102"", ""excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"""	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000288985.7:c.856C>G	9.37:g.98677984C>G	ENSP00000288985:p.His286Asp					ERCC6L2_ENST00000437817.1_Missense_Mutation_p.H97D|ERCC6L2_ENST00000466840.1_3'UTR	p.H286D	NM_001010895.2	NP_001010895.1	Q5T890	RAD26_HUMAN			5	1161	+			286			Helicase ATP-binding.		A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	Missense_Mutation	SNP	ENST00000288985.7	37	c.856C>G	CCDS35072.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.757356	0.89843	.	.	ENSG00000182150	ENST00000288985;ENST00000437817	D;D	0.98060	-4.69;-4.69	5.96	5.96	0.96718	DEAD-like helicase (2);DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site (1);SNF2-related (1);	0.000000	0.53938	D	0.000045	D	0.99257	0.9741	H	0.95982	3.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98863	1.0763	10	0.87932	D	0	-24.4135	20.4008	0.98991	0.0:1.0:0.0:0.0	.	97;286	Q5T890-2;Q5T890	.;RAD26_HUMAN	D	286;97	ENSP00000288985:H286D;ENSP00000416286:H97D	ENSP00000288985:H286D	H	+	1	0	C9orf102	97717805	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.999000	0.76283	2.826000	0.97356	0.655000	0.94253	CAT		0.373	ERCC6L2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053247.2	NM_001010895		29	51	0	0	0	1	0	29	51				
ASB15	142685	broad.mit.edu	37	7	123270074	123270074	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr7:123270074C>T	ENST00000451558.1	+	13	2016	c.1495C>T	c.(1495-1497)Cgt>Tgt	p.R499C	ASB15_ENST00000434204.1_Missense_Mutation_p.R499C|ASB15_ENST00000540573.1_Missense_Mutation_p.R499C|ASB15_ENST00000275699.3_Missense_Mutation_p.R499C|ASB15_ENST00000451215.1_Missense_Mutation_p.R499C			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	499					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.R499S(1)		breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						CAGAGTTACTCGTGTACTAAT	0.358																																						ENST00000451558.1																			1	Substitution - Missense(1)	p.R499S(1)	lung(1)	breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						c.(1495-1497)Cgt>Tgt		ankyrin repeat and SOCS box containing 15							145.0	143.0	143.0					7																	123270074		2203	4300	6503	SO:0001583	missense	142685				intracellular signal transduction			g.chr7:123270074C>T	AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809		"""Ankyrin repeat domain containing"""	19767	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 15"""			12076535	Standard	XM_005250149		Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.1495C>T	7.37:g.123270074C>T	ENSP00000397655:p.Arg499Cys					ASB15_ENST00000434204.1_Missense_Mutation_p.R499C|ASB15_ENST00000451215.1_Missense_Mutation_p.R499C|ASB15_ENST00000275699.3_Missense_Mutation_p.R499C|ASB15_ENST00000540573.1_Missense_Mutation_p.R499C	p.R499C			Q8WXK1	ASB15_HUMAN			13	2016	+			499					Q3ZCP3|Q3ZCP5|Q68D37	Missense_Mutation	SNP	ENST00000451558.1	37	c.1495C>T	CCDS34742.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.946112	0.34377	.	.	ENSG00000146809	ENST00000451558;ENST00000434204;ENST00000451215;ENST00000540573;ENST00000275699	T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000002	T	0.63379	0.2506	L	0.60845	1.875	0.35725	D	0.817482	P	0.50617	0.937	B	0.42771	0.397	T	0.75071	-0.3447	10	0.87932	D	0	14.3393	10.4831	0.44706	0.1333:0.7988:0.0:0.0679	.	499	Q8WXK1	ASB15_HUMAN	C	499	ENSP00000397655:R499C;ENSP00000390963:R499C;ENSP00000416433:R499C;ENSP00000438643:R499C;ENSP00000275699:R499C	ENSP00000275699:R499C	R	+	1	0	ASB15	123057310	0.985000	0.35326	0.466000	0.27168	0.051000	0.14879	1.586000	0.36611	2.885000	0.99019	0.655000	0.94253	CGT		0.358	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347493.1			41	90	0	0	0	1	0	41	90				
RBL2	5934	broad.mit.edu	37	16	53488623	53488623	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:53488623G>A	ENST00000262133.6	+	8	1185	c.1048G>A	c.(1048-1050)Gag>Aag	p.E350K	RBL2_ENST00000544545.1_Missense_Mutation_p.E134K|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	350					chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GAATTTAGATGAGCGGATATT	0.423																																						ENST00000262133.6																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1048-1050)Gag>Aag		retinoblastoma-like 2 (p130)							138.0	135.0	136.0					16																	53488623		2198	4300	6498	SO:0001583	missense	5934				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr16:53488623G>A	X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.1048G>A	16.37:g.53488623G>A	ENSP00000262133:p.Glu350Lys					RBL2_ENST00000544545.1_Missense_Mutation_p.E134K|RBL2_ENST00000379935.4_3'UTR	p.E350K	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN			8	1185	+			350					B7Z913|Q15073|Q16084|Q8NE70|Q92812	Missense_Mutation	SNP	ENST00000262133.6	37	c.1048G>A	CCDS10748.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.324569	0.81580	.	.	ENSG00000103479	ENST00000262133;ENST00000544405;ENST00000379935;ENST00000544545	D;D;D	0.97455	-4.39;-3.7;-3.47	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.98673	0.9555	M	0.87827	2.91	0.80722	D	1	D;D;D;D	0.89917	0.993;1.0;1.0;0.997	D;D;D;D	0.97110	0.978;0.994;1.0;0.985	D	0.99636	1.0987	10	0.87932	D	0	-18.2114	19.3959	0.94607	0.0:0.0:1.0:0.0	.	134;350;60;350	B7Z913;Q8NE70;E9PG04;Q08999	.;.;.;RBL2_HUMAN	K	350;276;60;134	ENSP00000262133:E350K;ENSP00000443744:E276K;ENSP00000444685:E134K	ENSP00000262133:E350K	E	+	1	0	RBL2	52046124	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	9.636000	0.98440	2.585000	0.87301	0.555000	0.69702	GAG		0.423	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611		19	51	0	0	0	1	0	19	51				
USP34	9736	broad.mit.edu	37	2	61633028	61633028	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:61633028C>G	ENST00000398571.2	-	3	443	c.367G>C	c.(367-369)Gaa>Caa	p.E123Q		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	123					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.E123K(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GATTTTTTTTCTATTGATTTT	0.343																																						ENST00000398571.2																			1	Substitution - Missense(1)	p.E123K(1)	lung(1)	autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(367-369)Gaa>Caa		ubiquitin specific peptidase 34							133.0	117.0	122.0					2																	61633028		1809	4062	5871	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61633028C>G	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.367G>C	2.37:g.61633028C>G	ENSP00000381577:p.Glu123Gln						p.E123Q	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		3	443	-			123					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.367G>C	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.863113	0.32884	.	.	ENSG00000115464	ENST00000398571	T	0.15139	2.45	6.17	6.17	0.99709	.	0.000000	0.24635	U	0.036852	T	0.10766	0.0263	N	0.12182	0.205	0.33518	D	0.591998	P	0.37466	0.596	B	0.26969	0.075	T	0.11567	-1.0582	10	0.30854	T	0.27	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	123	Q70CQ2	UBP34_HUMAN	Q	123	ENSP00000381577:E123Q	ENSP00000381577:E123Q	E	-	1	0	USP34	61486532	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	4.994000	0.63901	2.941000	0.99782	0.655000	0.94253	GAA		0.343	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			27	42	0	0	0	1	0	27	42				
PPARG	5468	broad.mit.edu	37	3	12447412	12447412	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:12447412G>C	ENST00000287820.6	+	5	772	c.651G>C	c.(649-651)gaG>gaC	p.E217D	PPARG_ENST00000397010.2_Missense_Mutation_p.E189D|PPARG_ENST00000397000.1_Missense_Mutation_p.E189D|PPARG_ENST00000309576.6_Missense_Mutation_p.E189D|PPARG_ENST00000539812.1_Missense_Mutation_p.E187D|PPARG_ENST00000397015.2_Missense_Mutation_p.E189D|PPARG_ENST00000397012.2_Missense_Mutation_p.E189D|PPARG_ENST00000397026.2_Missense_Mutation_p.E195D	NM_015869.4	NP_056953.2	P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	217	Interaction with FAM120B. {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|brown fat cell differentiation (GO:0050873)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|cellular response to lithium ion (GO:0071285)|epithelial cell differentiation (GO:0030855)|fatty acid oxidation (GO:0019395)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|innate immune response (GO:0045087)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|lipoprotein transport (GO:0042953)|long-chain fatty acid transport (GO:0015909)|low-density lipoprotein particle receptor biosynthetic process (GO:0045713)|monocyte differentiation (GO:0030224)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of cell growth (GO:0030308)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ regeneration (GO:0031100)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|placenta development (GO:0001890)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of oligodendrocyte differentiation (GO:0048714)|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 blood pressure (GO:0008217)|regulation of cholesterol transporter activity (GO:0060694)|regulation of transcription involved in cell fate commitment (GO:0060850)|response to caffeine (GO:0031000)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to lipid (GO:0033993)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|arachidonic acid binding (GO:0050544)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|prostaglandin receptor activity (GO:0004955)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Balsalazide(DB01014)|Bezafibrate(DB01393)|Glipizide(DB01067)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Mesalazine(DB00244)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rosiglitazone(DB00412)|Sulfasalazine(DB00795)|Telmisartan(DB00966)	CACAGGCCGAGAAGGAGAAGC	0.512			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""																															ENST00000397026.2				Dom	yes		3	3p25	5468	T	"""peroxisome proliferative activated receptor, gamma"""	yes	"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""	E	PAX8		follicular thyroid	PAX8/PPARG(117)	0				breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20						c.(583-585)gaG>gaC		peroxisome proliferator-activated receptor gamma	Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)						73.0	72.0	72.0					3																	12447412		2203	4300	6503	SO:0001583	missense	5468				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr3:12447412G>C	X90563	CCDS2609.1, CCDS2610.2	3p25	2013-01-16	2006-10-17		ENSG00000132170	ENSG00000132170		"""Nuclear hormone receptors"""	9236	protein-coding gene	gene with protein product		601487	"""peroxisome proliferative activated receptor, gamma"""			7862171, 9750197	Standard	NM_005037		Approved	PPARG1, PPARG2, NR1C3, PPARgamma	uc003bwx.3	P37231	OTTHUMG00000129764	ENST00000287820.6:c.651G>C	3.37:g.12447412G>C	ENSP00000287820:p.Glu217Asp					PPARG_ENST00000397015.2_Missense_Mutation_p.E189D|PPARG_ENST00000309576.6_Missense_Mutation_p.E189D|PPARG_ENST00000397010.2_Missense_Mutation_p.E189D|PPARG_ENST00000397012.2_Missense_Mutation_p.E189D|PPARG_ENST00000539812.1_Missense_Mutation_p.E187D|PPARG_ENST00000287820.6_Missense_Mutation_p.E217D|PPARG_ENST00000397000.1_Missense_Mutation_p.E189D	p.E195D			P37231	PPARG_HUMAN			7	968	+			217					A8K3G6|B5BUA1|O00684|O00710|O14515|Q0QJH8|Q15178|Q15179|Q15180|Q15832|Q86U60|Q96J12	Missense_Mutation	SNP	ENST00000287820.6	37	c.585G>C	CCDS2609.1	.	.	.	.	.	.	.	.	.	.	G	32	5.117304	0.94385	.	.	ENSG00000132170	ENST00000397010;ENST00000309576;ENST00000397015;ENST00000397012;ENST00000397026;ENST00000397000;ENST00000539812;ENST00000287820	D;D;D;D;D;D;D;D	0.96396	-4.0;-4.0;-4.0;-4.0;-4.0;-4.0;-4.0;-4.0	5.81	4.94	0.65067	.	0.043830	0.85682	D	0.000000	D	0.97980	0.9335	M	0.88640	2.97	0.80722	D	1	P;D;P	0.52996	0.953;0.957;0.953	P;P;P	0.58013	0.831;0.76;0.831	D	0.98574	1.0647	10	0.87932	D	0	.	16.3231	0.82958	0.0:0.0:0.8667:0.1333	.	217;203;189	P37231;Q4W4C7;E9PFX5	PPARG_HUMAN;.;.	D	189;189;189;189;195;189;187;217	ENSP00000380205:E189D;ENSP00000312472:E189D;ENSP00000380210:E189D;ENSP00000380207:E189D;ENSP00000380221:E195D;ENSP00000380196:E189D;ENSP00000438940:E187D;ENSP00000287820:E217D	ENSP00000287820:E217D	E	+	3	2	PPARG	12422412	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.189000	0.94928	1.441000	0.47550	0.650000	0.86243	GAG		0.512	PPARG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251979.2	NM_005037		35	74	0	0	0	1	0	35	74				
TTN	7273	broad.mit.edu	37	2	179615417	179615417	+	Intron	SNP	C	C	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:179615417C>A	ENST00000591111.1	-	45	10585				TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.D3904Y			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTCTCAAATCATCCTTTTTT	0.333																																						ENST00000360870.5																			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.(11710-11712)Gat>Tat		titin							65.0	66.0	66.0					2																	179615417		2202	4297	6499	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179615417C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+2433G>T	2.37:g.179615417C>A						TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	p.D3904Y	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	11932	-			9724					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.11710G>T		.	.	.	.	.	.	.	.	.	.	C	15.24	2.775302	0.49786	.	.	ENSG00000155657	ENST00000360870	T	0.60424	0.19	5.55	3.64	0.41730	.	.	.	.	.	T	0.34279	0.0892	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.14023	0.01	T	0.06373	-1.0830	9	0.59425	D	0.04	.	5.6261	0.17482	0.1432:0.6372:0.139:0.0807	.	3904	Q8WZ42-6	.	Y	3904	ENSP00000354117:D3904Y	ENSP00000354117:D3904Y	D	-	1	0	TTN	179323662	0.075000	0.21258	0.055000	0.19348	0.360000	0.29518	1.554000	0.36266	2.767000	0.95098	0.655000	0.94253	GAT		0.333	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		14	24	1	0	7.93312e-07	1	8.05994e-07	14	24				
TNXB	7148	broad.mit.edu	37	6	32017905	32017905	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:32017905C>T	ENST00000375244.3	-	27	9510	c.9309G>A	c.(9307-9309)gcG>gcA	p.A3103A	TNXB_ENST00000375247.2_Silent_p.A3101A			P22105	TENX_HUMAN	tenascin XB	3148					actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCACCCGCACCGCCTTGGGCT	0.637																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(9307-9309)gcG>gcA		tenascin XB							53.0	57.0	56.0					6																	32017905		1186	2499	3685	SO:0001819	synonymous_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32017905C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.9309G>A	6.37:g.32017905C>T						TNXB_ENST00000375247.2_Silent_p.A3101A	p.A3103A			P22105	TENX_HUMAN			27	9510	-			3148					P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37	c.9309G>A																																																																																					0.637	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		33	75	0	0	0	1	0	33	75				
TTN	7273	broad.mit.edu	37	2	179615282	179615282	+	Intron	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:179615282C>T	ENST00000591111.1	-	45	10585				TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.E3949K			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATTCAATTTCTTGAAGAAAT	0.343																																						ENST00000360870.5																			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.(11845-11847)Gaa>Aaa		titin							34.0	34.0	34.0					2																	179615282		2202	4295	6497	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179615282C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+2568G>A	2.37:g.179615282C>T						TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	p.E3949K	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	12067	-			9766					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.11845G>A		.	.	.	.	.	.	.	.	.	.	C	13.01	2.110779	0.37242	.	.	ENSG00000155657	ENST00000360870	T	0.65364	-0.15	5.55	5.55	0.83447	.	.	.	.	.	T	0.50820	0.1638	N	0.20483	0.58	0.80722	D	1	P	0.42692	0.787	B	0.44044	0.439	T	0.46512	-0.9186	9	0.05833	T	0.94	.	19.861	0.96785	0.0:1.0:0.0:0.0	.	3949	Q8WZ42-6	.	K	3949	ENSP00000354117:E3949K	ENSP00000354117:E3949K	E	-	1	0	TTN	179323527	1.000000	0.71417	1.000000	0.80357	0.635000	0.38103	4.222000	0.58580	2.767000	0.95098	0.655000	0.94253	GAA		0.343	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		10	12	0	0	0	1	0	10	12				
IL21R	50615	broad.mit.edu	37	16	27448847	27448847	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:27448847C>T	ENST00000337929.3	+	4	664	c.191C>T	c.(190-192)tCc>tTc	p.S64F	IL21R_ENST00000395754.4_Missense_Mutation_p.S64F|IL21R_ENST00000395755.1_Missense_Mutation_p.S64F|IL21R_ENST00000564089.1_Missense_Mutation_p.S64F	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	64	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						GAGGCCACCTCCTGCAGCCTC	0.587			T	BCL6	NHL																																	ENST00000337929.3				Dom	yes		16	16p11	50615	T	interleukin 21 receptor			L	BCL6		NHL		0				breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						c.(190-192)tCc>tTc		interleukin 21 receptor							115.0	89.0	98.0					16																	27448847		2197	4300	6497	SO:0001583	missense	50615				natural killer cell activation	integral to membrane	interleukin-21 receptor activity	g.chr16:27448847C>T	AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"""Interleukins and interleukin receptors"", ""CD molecules"""	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.191C>T	16.37:g.27448847C>T	ENSP00000338010:p.Ser64Phe					IL21R_ENST00000395754.4_Missense_Mutation_p.S64F|IL21R_ENST00000564089.1_Missense_Mutation_p.S64F|IL21R_ENST00000395755.1_Missense_Mutation_p.S64F	p.S64F	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN			4	664	+			64					A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Missense_Mutation	SNP	ENST00000337929.3	37	c.191C>T	CCDS10630.1	.	.	.	.	.	.	.	.	.	.	C	3.893	-0.023549	0.07634	.	.	ENSG00000103522	ENST00000337929;ENST00000395755;ENST00000395754	D;D;D	0.98028	-4.67;-4.67;-4.67	4.65	1.53	0.23141	Fibronectin, type III (1);	0.579444	0.16690	N	0.203599	D	0.93582	0.7951	L	0.36672	1.1	0.29724	N	0.838391	B	0.14438	0.01	B	0.15484	0.013	D	0.86345	0.1707	10	0.22706	T	0.39	-17.4407	7.11	0.25384	0.0:0.7061:0.0:0.2939	.	64	Q9HBE5	IL21R_HUMAN	F	64	ENSP00000338010:S64F;ENSP00000379104:S64F;ENSP00000379103:S64F	ENSP00000338010:S64F	S	+	2	0	IL21R	27356348	0.998000	0.40836	0.804000	0.32291	0.024000	0.10985	0.967000	0.29344	0.124000	0.18369	0.650000	0.86243	TCC		0.587	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	NM_181078		42	49	0	0	0	1	0	42	49				
OR51T1	401665	broad.mit.edu	37	11	4903513	4903513	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:4903513C>T	ENST00000322049.1	+	1	384	c.384C>T	c.(382-384)atC>atT	p.I128I	MMP26_ENST00000380390.1_Intron|OR51T1_ENST00000380378.1_Silent_p.I155I|MMP26_ENST00000477339.1_Intron			Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	128						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(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCGTGGCTATCTGTAACCCAC	0.488																																						ENST00000380378.1																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(463-465)atC>atT		olfactory receptor, family 51, subfamily T, member 1							151.0	128.0	136.0					11																	4903513		2201	4298	6499	SO:0001819	synonymous_variant	401665				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4903513C>T	BK004283	CCDS31363.1	11p15.4	2012-08-09			ENSG00000176900	ENSG00000176900		"""GPCR / Class A : Olfactory receptors"""	15205	protein-coding gene	gene with protein product							Standard	NM_001004759		Approved		uc010qyp.2	Q8NGJ9	OTTHUMG00000066507	ENST00000322049.1:c.384C>T	11.37:g.4903513C>T						MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR51T1_ENST00000322049.1_Silent_p.I128I	p.I155I	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	465	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	128					Q6IFH9	Silent	SNP	ENST00000322049.1	37	c.465C>T																																																																																					0.488	OR51T1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000142180.1	NM_001004759		11	105	0	0	0	1	0	11	105				
CST9L	128821	broad.mit.edu	37	20	23546622	23546622	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr20:23546622C>T	ENST00000376979.3	-	2	641	c.343G>A	c.(343-345)Gag>Aag	p.E115K		NM_080610.2	NP_542177.1	Q9H4G1	CST9L_HUMAN	cystatin 9-like	115						extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8	Colorectal(13;0.0431)|Lung NSC(19;0.235)					TTGTTCAGCTCTGTGCTTTCT	0.502																																						ENST00000376979.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(343-345)Gag>Aag		cystatin 9-like							267.0	211.0	230.0					20																	23546622		2203	4300	6503	SO:0001583	missense	128821					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23546622C>T		CCDS13157.1	20p11.21	2012-08-14	2008-03-06		ENSG00000101435	ENSG00000101435			16233	protein-coding gene	gene with protein product			"""cystatin 9 (mouse)-like"""			20565543	Standard	NM_080610		Approved	bA218C14.1, CTES7B	uc002wtk.4	Q9H4G1	OTTHUMG00000032073	ENST00000376979.3:c.343G>A	20.37:g.23546622C>T	ENSP00000366178:p.Glu115Lys						p.E115K	NM_080610.2	NP_542177.1	Q9H4G1	CST9L_HUMAN			2	641	-	Colorectal(13;0.0431)|Lung NSC(19;0.235)		115					B2R5A1	Missense_Mutation	SNP	ENST00000376979.3	37	c.343G>A	CCDS13157.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.400481	0.42613	.	.	ENSG00000101435	ENST00000376979	T	0.14022	2.54	1.92	1.92	0.25849	Proteinase inhibitor I25, cystatin (2);	1.375330	0.05097	N	0.486284	T	0.31358	0.0794	M	0.72894	2.215	0.09310	N	1	D	0.67145	0.996	D	0.68765	0.96	T	0.29397	-1.0013	10	0.13470	T	0.59	.	7.3268	0.26560	0.0:1.0:0.0:0.0	.	115	Q9H4G1	CST9L_HUMAN	K	115	ENSP00000366178:E115K	ENSP00000366178:E115K	E	-	1	0	CST9L	23494622	0.001000	0.12720	0.006000	0.13384	0.068000	0.16541	1.076000	0.30729	1.360000	0.45960	0.491000	0.48974	GAG		0.502	CST9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078338.1	NM_080610		34	113	0	0	0	1	0	34	113				
HELZ2	85441	broad.mit.edu	37	20	62197488	62197488	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr20:62197488C>T	ENST00000467148.1	-	8	2756	c.2687G>A	c.(2686-2688)cGc>cAc	p.R896H	HELZ2_ENST00000427522.2_Missense_Mutation_p.R327H	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	896	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GTTGAGCACGCGGGCGTCGGT	0.701																																						ENST00000467148.1																			0											c.(2686-2688)cGc>cAc		helicase with zinc finger 2, transcriptional coactivator							14.0	17.0	16.0					20																	62197488		2167	4283	6450	SO:0001583	missense	85441							g.chr20:62197488C>T	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.2687G>A	20.37:g.62197488C>T	ENSP00000417401:p.Arg896His					HELZ2_ENST00000427522.2_Missense_Mutation_p.R327H	p.R896H	NM_001037335.2	NP_001032412.2					8	2756	-								Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	c.2687G>A	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.620247	0.66787	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	D;D	0.95171	-3.63;-3.63	3.95	3.95	0.45737	.	0.309873	0.17487	U	0.172482	D	0.97414	0.9154	M	0.86343	2.81	0.46203	D	0.998926	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.97591	1.0117	10	0.49607	T	0.09	-12.7842	15.9981	0.80268	0.0:1.0:0.0:0.0	.	896;327	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	H	327;896	ENSP00000393257:R327H;ENSP00000417401:R896H	ENSP00000393257:R327H	R	-	2	0	RP4-697K14.7	61667932	1.000000	0.71417	0.882000	0.34594	0.148000	0.21650	5.774000	0.68906	1.740000	0.51718	0.313000	0.20887	CGC		0.701	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		8	9	0	0	0	1	0	8	9				
DDR1	780	broad.mit.edu	37	6	30856492	30856492	+	5'UTR	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:30856492G>C	ENST00000324771.8	+	0	534				DDR1_ENST00000508312.1_Missense_Mutation_p.E14Q|DDR1_ENST00000376570.4_5'UTR|DDR1_ENST00000361741.4_5'Flank|DDR1_ENST00000454612.2_5'UTR|MIR4640_ENST00000581824.1_RNA|DDR1_ENST00000376575.3_5'UTR|DDR1_ENST00000418800.2_5'UTR|DDR1_ENST00000446312.1_5'UTR|DDR1_ENST00000376568.3_5'UTR|DDR1_ENST00000376567.2_5'UTR|DDR1_ENST00000513240.1_5'Flank|DDR1_ENST00000452441.1_5'UTR|DDR1_ENST00000376569.3_5'UTR			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1						branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CCTTAGGCCCGAGGGATCAGG	0.537																																						ENST00000508312.1																			0				central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29						c.(40-42)Gag>Cag		discoidin domain receptor tyrosine kinase 1	Imatinib(DB00619)						55.0	47.0	50.0					6																	30856492		1510	2708	4218	SO:0001623	5_prime_UTR_variant	780				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:30856492G>C	X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"""CD molecules"""	2730	protein-coding gene	gene with protein product		600408	"""discoidin domain receptor family, member 1"""	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.-15G>C	6.37:g.30856492G>C						DDR1_ENST00000376567.2_5'UTR|DDR1_ENST00000376568.3_5'UTR|DDR1_ENST00000418800.2_5'UTR|DDR1_ENST00000376570.4_5'UTR|DDR1_ENST00000376569.3_5'UTR|DDR1_ENST00000454612.2_5'UTR|DDR1_ENST00000376575.3_5'UTR|DDR1_ENST00000452441.1_5'UTR|DDR1_ENST00000446312.1_5'UTR|DDR1_ENST00000324771.8_5'UTR	p.E14Q	NM_001202523.1	NP_001189452.1	Q08345	DDR1_HUMAN			2	292	+			0					B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Missense_Mutation	SNP	ENST00000324771.8	37	c.40G>C	CCDS34385.1	.	.	.	.	.	.	.	.	.	.	G	2.411	-0.335357	0.05278	.	.	ENSG00000204580	ENST00000508312;ENST00000503495	D;D	0.97665	-1.91;-4.48	4.85	-2.41	0.06562	.	.	.	.	.	T	0.81403	0.4815	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.75566	-0.3273	9	0.37606	T	0.19	.	5.0155	0.14333	0.3908:0.2911:0.3181:0.0	.	22;14	B7Z3A2;B7Z2K0	.;.	Q	14;22	ENSP00000422442:E14Q;ENSP00000423749:E22Q	ENSP00000423749:E22Q	E	+	1	0	DDR1	30964471	0.000000	0.05858	0.013000	0.15412	0.288000	0.27193	-0.322000	0.08007	-0.175000	0.10725	-0.384000	0.06662	GAG		0.537	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3	NM_013994		14	29	0	0	0	1	0	14	29				
ST18	9705	broad.mit.edu	37	8	53084658	53084658	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr8:53084658C>G	ENST00000276480.7	-	10	1446	c.763G>C	c.(763-765)Gaa>Caa	p.E255Q		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	255					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TCTTTCCTTTCTGTTTCAGAA	0.453																																						ENST00000276480.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(763-765)Gaa>Caa		suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							85.0	90.0	88.0					8																	53084658		2203	4300	6503	SO:0001583	missense	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53084658C>G	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.763G>C	8.37:g.53084658C>G	ENSP00000276480:p.Glu255Gln						p.E255Q	NM_014682.2	NP_055497.1	O60284	ST18_HUMAN			10	1446	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	255					Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	c.763G>C	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.566028	0.27915	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.46451	0.88;0.87	5.91	5.03	0.67393	.	1.073260	0.06913	N	0.808030	T	0.39784	0.1091	L	0.46157	1.445	0.09310	N	1	B	0.13594	0.008	B	0.14023	0.01	T	0.30090	-0.9990	10	0.26408	T	0.33	-1.3367	10.9405	0.47270	0.0:0.8026:0.129:0.0683	.	255	O60284	ST18_HUMAN	Q	255	ENSP00000276480:E255Q;ENSP00000428521:E255Q	ENSP00000276480:E255Q	E	-	1	0	ST18	53247211	0.090000	0.21635	0.003000	0.11579	0.552000	0.35366	2.589000	0.46145	1.484000	0.48361	0.655000	0.94253	GAA		0.453	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			11	111	0	0	0	1	0	11	111				
CELSR1	9620	broad.mit.edu	37	22	46776737	46776737	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr22:46776737C>T	ENST00000262738.3	-	22	7203	c.7204G>A	c.(7204-7206)Gag>Aag	p.E2402K		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2402					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCCTCCACCTCCAGCAGGGCG	0.632																																						ENST00000262738.3																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(7204-7206)Gag>Aag		cadherin, EGF LAG seven-pass G-type receptor 1							48.0	49.0	49.0					22																	46776737		2203	4300	6503	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46776737C>T	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.7204G>A	22.37:g.46776737C>T	ENSP00000262738:p.Glu2402Lys						p.E2402K	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	22	7203	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	2402					O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.7204G>A	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.523833	0.85600	.	.	ENSG00000075275	ENST00000262738	T	0.69306	-0.39	4.44	4.44	0.53790	.	0.000000	0.64402	U	0.000002	T	0.77116	0.4083	L	0.58510	1.815	0.80722	D	1	D;D	0.63880	0.993;0.985	D;P	0.64506	0.926;0.824	T	0.76503	-0.2935	10	0.35671	T	0.21	.	16.6853	0.85303	0.0:1.0:0.0:0.0	.	723;2402	B7Z7U7;Q9NYQ6	.;CELR1_HUMAN	K	2402	ENSP00000262738:E2402K	ENSP00000262738:E2402K	E	-	1	0	CELSR1	45155401	1.000000	0.71417	0.999000	0.59377	0.722000	0.41435	4.397000	0.59690	2.043000	0.60533	0.491000	0.48974	GAG		0.632	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		34	131	0	0	0	1	0	34	131				
ZNF10	7556	broad.mit.edu	37	12	133732317	133732317	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:133732317G>C	ENST00000248211.6	+	5	707	c.485G>C	c.(484-486)aGa>aCa	p.R162T	ZNF10_ENST00000426665.2_Missense_Mutation_p.R162T|ZNF268_ENST00000416488.1_Intron|ZNF10_ENST00000402932.2_Intron|CTD-2140B24.4_ENST00000540096.2_Intron	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	162				Missing (in Ref. 1). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		ACTCAGGAGAGAGTCTCTGAA	0.413																																						ENST00000248211.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26						c.(484-486)aGa>aCa		zinc finger protein 10							101.0	100.0	101.0					12																	133732317		2203	4300	6503	SO:0001583	missense	7556				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:133732317G>C	X52332, BC024182	CCDS9283.1	12q24.33	2013-01-08	2005-05-22		ENSG00000256223	ENSG00000256223		"""Zinc fingers, C2H2-type"", ""-"""	12879	protein-coding gene	gene with protein product		194538	"""zinc finger protein 10 (KOX 1)"""			7865130, 8262519	Standard	NM_015394		Approved	KOX1	uc001ulq.3	P21506	OTTHUMG00000167944	ENST00000248211.6:c.485G>C	12.37:g.133732317G>C	ENSP00000248211:p.Arg162Thr					CTD-2140B24.4_ENST00000540096.2_Intron|ZNF10_ENST00000402932.2_Intron|ZNF10_ENST00000426665.2_Missense_Mutation_p.R162T|ZNF268_ENST00000416488.1_Intron	p.R162T	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)	5	707	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)	162	Missing (in Ref. 1).				B2RBS1|Q8TC91	Missense_Mutation	SNP	ENST00000248211.6	37	c.485G>C	CCDS9283.1	.	.	.	.	.	.	.	.	.	.	G	6.017	0.371553	0.11409	.	.	ENSG00000256223	ENST00000248211;ENST00000426665;ENST00000537119	T;T;T	0.05258	3.47;3.47;4.59	4.44	2.61	0.31194	.	1.288500	0.05601	N	0.576368	T	0.06508	0.0167	L	0.35644	1.08	0.09310	N	0.999999	B	0.26935	0.164	B	0.25405	0.06	T	0.43507	-0.9387	9	.	.	.	.	6.3686	0.21469	0.3043:0.0:0.6957:0.0	.	162	P21506	ZNF10_HUMAN	T	162;162;120	ENSP00000248211:R162T;ENSP00000393814:R162T;ENSP00000437397:R120T	.	R	+	2	0	ZNF10	132242390	0.017000	0.18338	0.084000	0.20598	0.798000	0.45092	0.778000	0.26732	0.614000	0.30107	-0.140000	0.14226	AGA		0.413	ZNF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397182.1	NM_015394		20	74	0	0	0	1	0	20	74				
ZNF470	388566	broad.mit.edu	37	19	57089213	57089213	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:57089213G>C	ENST00000330619.8	+	6	2102	c.1416G>C	c.(1414-1416)caG>caC	p.Q472H	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.Q472H	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	472					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)			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		CTCTTCATCAGAGAGTTCATA	0.438																																						ENST00000330619.8																			0				endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(1414-1416)caG>caC		zinc finger protein 470							74.0	80.0	78.0					19																	57089213		2203	4300	6503	SO:0001583	missense	388566				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57089213G>C	AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"""Zinc fingers, C2H2-type"", ""-"""	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.1416G>C	19.37:g.57089213G>C	ENSP00000333223:p.Gln472His					ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.Q472H	p.Q472H	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN		GBM - Glioblastoma multiforme(193;0.0294)	6	2102	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	472					A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Missense_Mutation	SNP	ENST00000330619.8	37	c.1416G>C	CCDS33122.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.993803	0.35131	.	.	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.18502	2.21;2.21	4.37	-6.48	0.01896	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26593	0.0650	L	0.51914	1.62	0.09310	N	0.999999	D	0.64830	0.994	P	0.54629	0.757	T	0.30416	-0.9979	9	0.46703	T	0.11	.	18.2615	0.90037	0.277:0.0:0.723:0.0	.	472	Q6ECI4	ZN470_HUMAN	H	472	ENSP00000375590:Q472H;ENSP00000333223:Q472H	ENSP00000333223:Q472H	Q	+	3	2	ZNF470	61781025	0.000000	0.05858	0.496000	0.27539	0.990000	0.78478	-0.614000	0.05604	-1.543000	0.01723	-0.312000	0.09012	CAG		0.438	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	NM_001001668		9	122	0	0	0	1	0	9	122				
OSBPL9	114883	broad.mit.edu	37	1	52256608	52256608	+	IGR	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:52256608C>G	ENST00000428468.1	+	0	2893				NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000539524.1_Missense_Mutation_p.K941N|NRD1_ENST00000352171.7_Missense_Mutation_p.K1005N|NRD1_ENST00000354831.7_Missense_Mutation_p.K1073N			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9						lipid transport (GO:0006869)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						GGTTCTCAATCTTCTCCTCAA	0.413																																						ENST00000354831.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						c.(3217-3219)aaG>aaC		nardilysin (N-arginine dibasic convertase)							94.0	99.0	97.0					1																	52256608		2203	4300	6503	SO:0001628	intergenic_variant	4898				cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	g.chr1:52256608C>G	AF392445	CCDS558.1, CCDS41332.1, CCDS41333.1, CCDS41334.1, CCDS41332.2, CCDS41332.3, CCDS41333.2, CCDS44145.1, CCDS55598.1	1p32.3	2013-01-10			ENSG00000117859	ENSG00000117859		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16386	protein-coding gene	gene with protein product		606737					Standard	NM_148904		Approved		uc001csu.3	Q96SU4	OTTHUMG00000008234		1.37:g.52256608C>G						NRD1_ENST00000539524.1_Missense_Mutation_p.K941N|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000352171.7_Missense_Mutation_p.K1005N	p.K1073N	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN			30	3408	-			1004					B1AKJ8|B3KPQ4|D3DQ31|Q5TFC0|Q6IA67|Q86YQ3|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	Missense_Mutation	SNP	ENST00000428468.1	37	c.3219G>C	CCDS41332.3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.79|17.79	3.476975|3.476975	0.63849|0.63849	.|.	.|.	ENSG00000078618|ENSG00000078618	ENST00000440943|ENST00000352171;ENST00000354831;ENST00000539524;ENST00000371665;ENST00000546169	.|T;T;T	.|0.08008	.|3.14;3.14;3.14	5.43|5.43	4.5|4.5	0.54988|0.54988	.|Peptidase M16, C-terminal (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	.|0.107611	.|0.64402	.|D	.|0.000016	T|T	0.08714|0.08714	0.0216|0.0216	L|L	0.55481|0.55481	1.735|1.735	0.80722|0.80722	D|D	1|1	.|B;B	.|0.26902	.|0.095;0.163	.|B;B	.|0.30029	.|0.077;0.11	T|T	0.13818|0.13818	-1.0495|-1.0495	5|10	.|0.26408	.|T	.|0.33	-17.0698|-17.0698	6.4786|6.4786	0.22049|0.22049	0.0:0.7387:0.0:0.2613|0.0:0.7387:0.0:0.2613	.|.	.|1004;1073	.|O43847;B1AKJ5	.|NRDC_HUMAN;.	H|N	392|1005;1073;941;407;1005	.|ENSP00000262679:K1005N;ENSP00000346890:K1073N;ENSP00000444416:K941N	.|ENSP00000262679:K1005N	D|K	-|-	1|3	0|2	NRD1|NRD1	52029196|52029196	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.963000|0.963000	0.63663|0.63663	1.612000|1.612000	0.36889|0.36889	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	GAT|AAG		0.413	OSBPL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022584.4			15	16	0	0	0	1	0	15	16				
AQP4	361	broad.mit.edu	37	18	24441126	24441126	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr18:24441126C>G	ENST00000383168.4	-	3	709	c.581G>C	c.(580-582)gGa>gCa	p.G194A	AQP4-AS1_ENST00000579964.1_RNA|AQP4_ENST00000440832.3_Missense_Mutation_p.G172A|AQP4_ENST00000583022.1_5'UTR|AQP4-AS1_ENST00000582605.1_RNA|AQP4_ENST00000581374.1_Missense_Mutation_p.G172A	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	194					carbon dioxide transport (GO:0015670)|cellular response to estradiol stimulus (GO:0071392)|cellular response to interferon-gamma (GO:0071346)|female pregnancy (GO:0007565)|hyperosmotic salinity response (GO:0042538)|multicellular organismal water homeostasis (GO:0050891)|protein homooligomerization (GO:0051260)|renal water absorption (GO:0070295)|response to glucocorticoid (GO:0051384)|response to radiation (GO:0009314)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)	porin activity (GO:0015288)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					AACAGAAAATCCAATTGCTAA	0.383																																						ENST00000383168.4																			0				kidney(2)|large_intestine(3)|lung(5)|skin(1)	11						c.(580-582)gGa>gCa		aquaporin 4							103.0	99.0	100.0					18																	24441126		2203	4300	6503	SO:0001583	missense	361				cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity	g.chr18:24441126C>G	U63622	CCDS11889.1, CCDS58617.1	18q11.2-q12.1	2005-09-20			ENSG00000171885	ENSG00000171885		"""Ion channels / Aquaporins"""	637	protein-coding gene	gene with protein product		600308				7528931	Standard	NM_001650		Approved	MIWC	uc002kwa.3	P55087	OTTHUMG00000131955	ENST00000383168.4:c.581G>C	18.37:g.24441126C>G	ENSP00000372654:p.Gly194Ala					AQP4_ENST00000583022.1_5'UTR|AQP4-AS1_ENST00000582605.1_RNA|AQP4_ENST00000440832.3_Missense_Mutation_p.G172A|AQP4-AS1_ENST00000579964.1_RNA|AQP4_ENST00000581374.1_Missense_Mutation_p.G172A	p.G194A	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN			3	709	-	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)		194					P78564	Missense_Mutation	SNP	ENST00000383168.4	37	c.581G>C	CCDS11889.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.323910	0.81580	.	.	ENSG00000171885	ENST00000383168;ENST00000440832	D	0.95788	-3.81	5.6	5.6	0.85130	Aquaporin-like (2);	0.000000	0.85682	D	0.000000	D	0.98061	0.9361	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.98655	1.0681	10	0.87932	D	0	.	19.621	0.95656	0.0:1.0:0.0:0.0	.	194	P55087	AQP4_HUMAN	A	194;174	ENSP00000372654:G194A	ENSP00000372654:G194A	G	-	2	0	AQP4	22695124	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.627000	0.88993	0.655000	0.94253	GGA		0.383	AQP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254914.2	NM_001650, NM_004028		4	96	0	0	0	1	0	4	96				
APC2	10297	broad.mit.edu	37	19	1465944	1465944	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:1465944G>C	ENST00000535453.1	+	14	4357	c.2644G>C	c.(2644-2646)Gag>Cag	p.E882Q	APC2_ENST00000233607.2_Missense_Mutation_p.E882Q|C19orf25_ENST00000588427.1_Intron|APC2_ENST00000238483.4_Missense_Mutation_p.E608Q			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCGGGACAGGAGGCGCCACG	0.731																																						ENST00000535453.1																			0				breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18						c.(2644-2646)Gag>Cag		adenomatosis polyposis coli 2							13.0	14.0	14.0					19																	1465944		2172	4293	6465	SO:0001583	missense	10297				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding	g.chr19:1465944G>C		CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"""Armadillo repeat containing"""	24036	protein-coding gene	gene with protein product	"""adenomatous polyposis coli like"""	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.2644G>C	19.37:g.1465944G>C	ENSP00000442954:p.Glu882Gln					APC2_ENST00000233607.2_Missense_Mutation_p.E882Q|APC2_ENST00000238483.4_Missense_Mutation_p.E608Q|C19orf25_ENST00000588427.1_Intron	p.E882Q			O95996	APC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	14	4357	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	882					C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Missense_Mutation	SNP	ENST00000535453.1	37	c.2644G>C	CCDS12068.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.739283	0.30774	.	.	ENSG00000115266	ENST00000233607;ENST00000238483;ENST00000535453	D;D;D	0.93307	-3.2;-2.85;-3.2	4.18	4.18	0.49190	.	0.346611	0.28268	N	0.015980	D	0.92299	0.7557	L	0.27053	0.805	0.80722	D	1	D;P	0.54964	0.969;0.948	P;P	0.55824	0.785;0.614	D	0.92546	0.6046	10	0.46703	T	0.11	-27.772	15.2049	0.73173	0.0:0.0:1.0:0.0	.	881;882	O95996-3;O95996	.;APC2_HUMAN	Q	882;608;882	ENSP00000233607:E882Q;ENSP00000238483:E608Q;ENSP00000442954:E882Q	ENSP00000233607:E882Q	E	+	1	0	APC2	1416944	1.000000	0.71417	0.993000	0.49108	0.434000	0.31775	5.839000	0.69395	2.156000	0.67533	0.313000	0.20887	GAG		0.731	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	NM_005883		10	23	0	0	0	1	0	10	23				
PTGS1	5742	broad.mit.edu	37	9	125154628	125154628	+	Silent	SNP	G	G	A	rs542367354		TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:125154628G>A	ENST00000362012.2	+	11	1610	c.1605G>A	c.(1603-1605)ggG>ggA	p.G535G	PTGS1_ENST00000223423.4_Silent_p.G498G|PTGS1_ENST00000373698.5_Silent_p.G426G|PTGS1_ENST00000540753.1_Silent_p.G473G	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	535					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|prostaglandin biosynthetic process (GO:0001516)|regulation of blood pressure (GO:0008217)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	dioxygenase activity (GO:0051213)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bortezomib(DB00188)|Bromfenac(DB00963)|Candesartan(DB00796)|Carprofen(DB00821)|Carvedilol(DB01136)|Chlorpropamide(DB00672)|Dapsone(DB00250)|Desmopressin(DB00035)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Diphenhydramine(DB01075)|Dronabinol(DB00470)|Eletriptan(DB00216)|Eszopiclone(DB00402)|Etodolac(DB00749)|Etoposide(DB00773)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Hexobarbital(DB01355)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Icosapent(DB00159)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indomethacin(DB00328)|Irbesartan(DB01029)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Minoxidil(DB00350)|Montelukast(DB00471)|Nabumetone(DB00461)|Naproxen(DB00788)|Nateglinide(DB00731)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nortriptyline(DB00540)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Rosiglitazone(DB00412)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfamethoxazole(DB01015)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Torasemide(DB00214)|Trabectedin(DB05109)|Triflusal(DB08814)|Trisalicylate-choline(DB01401)|Valproic Acid(DB00313)|Voriconazole(DB00582)|Zafirlukast(DB00549)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	GTCTCCTAGGGAATCCCATCT	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		19594	0.0		0.0	False		,,,				2504	0.001					ENST00000362012.2																			0				large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(1603-1605)ggG>ggA		prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)						108.0	111.0	110.0					9																	125154628		2203	4300	6503	SO:0001819	synonymous_variant	5742				cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr9:125154628G>A	M59979	CCDS6842.1, CCDS6843.1, CCDS59520.1, CCDS59521.1, CCDS75895.1	9q32-q33.3	2008-02-05			ENSG00000095303	ENSG00000095303	1.14.99.1		9604	protein-coding gene	gene with protein product		176805				2512924, 1907252	Standard	NM_000962		Approved	COX1, PGHS-1, PTGHS	uc004bmg.2	P23219	OTTHUMG00000020605	ENST00000362012.2:c.1605G>A	9.37:g.125154628G>A						PTGS1_ENST00000373698.5_Silent_p.G426G|PTGS1_ENST00000223423.4_Silent_p.G498G|PTGS1_ENST00000540753.1_Silent_p.G473G	p.G535G	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN			11	1610	+			535					A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Silent	SNP	ENST00000362012.2	37	c.1605G>A	CCDS6842.1																																																																																				0.522	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053933.1			60	119	0	0	0	1	0	60	119				
BRWD3	254065	broad.mit.edu	37	X	79945534	79945534	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chrX:79945534G>A	ENST00000373275.4	-	32	3876	c.3660C>T	c.(3658-3660)ttC>ttT	p.F1220F	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1220	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CTGGCTCATTGAAAGTCCTGG	0.363																																						ENST00000373275.4																			0				breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						c.(3658-3660)ttC>ttT		bromodomain and WD repeat domain containing 3							91.0	79.0	83.0					X																	79945534		2203	4299	6502	SO:0001819	synonymous_variant	254065							g.chrX:79945534G>A		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.3660C>T	X.37:g.79945534G>A						BRWD3_ENST00000473691.1_5'UTR	p.F1220F	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN			32	3876	-			1220			Bromo 1.		C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Silent	SNP	ENST00000373275.4	37	c.3660C>T	CCDS14447.1																																																																																				0.363	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		14	6	0	0	0	1	0	14	6				
HVCN1	84329	broad.mit.edu	37	12	111093078	111093078	+	Silent	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:111093078C>G	ENST00000356742.5	-	4	1125	c.372G>C	c.(370-372)ctG>ctC	p.L124L	HVCN1_ENST00000242607.8_Silent_p.L124L|HVCN1_ENST00000548312.1_Silent_p.L124L|HVCN1_ENST00000439744.2_Silent_p.L104L			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	124					cellular response to pH (GO:0071467)|cellular response to zinc ion (GO:0071294)|multicellular organism reproduction (GO:0032504)|proton transport (GO:0015992)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	voltage-gated cation channel activity (GO:0022843)|voltage-gated proton channel activity (GO:0030171)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						GGATGATCTTCAGGTCCAGGA	0.517																																						ENST00000356742.5																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						c.(370-372)ctG>ctC		hydrogen voltage-gated channel 1							161.0	132.0	142.0					12																	111093078		2203	4300	6503	SO:0001819	synonymous_variant	84329				response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity	g.chr12:111093078C>G	BC007277	CCDS31900.1, CCDS58278.1	12q24.11	2011-12-09	2006-03-24	2006-03-24	ENSG00000122986	ENSG00000122986		"""Voltage-gated ion channels / Hydrogen voltage-gated channel"""	28240	protein-coding gene	gene with protein product	"""voltage sensor domain-only protein"""	611227				20961760, 16556803, 18356202, 22020278	Standard	NM_032369		Approved	MGC15619, Hv1, VSOP	uc001trs.2	Q96D96		ENST00000356742.5:c.372G>C	12.37:g.111093078C>G						HVCN1_ENST00000548312.1_Silent_p.L124L|HVCN1_ENST00000439744.2_Silent_p.L104L|HVCN1_ENST00000242607.8_Silent_p.L124L	p.L124L			Q96D96	HVCN1_HUMAN			4	1125	-			124					A8MQ37|B4DEB3|F8WCH5|Q6UW11|Q96IS5	Silent	SNP	ENST00000356742.5	37	c.372G>C	CCDS31900.1																																																																																				0.517	HVCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404653.1	NM_032369		26	63	0	0	0	1	0	26	63				
ZNF606	80095	broad.mit.edu	37	19	58491454	58491454	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:58491454G>A	ENST00000341164.4	-	7	1214	c.594C>T	c.(592-594)gtC>gtT	p.V198V	ZNF606_ENST00000536132.1_Silent_p.V108V	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	198					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TTTGCATGAAGACCATCTGCC	0.423																																						ENST00000341164.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(592-594)gtC>gtT		zinc finger protein 606							128.0	121.0	123.0					19																	58491454		2203	4300	6503	SO:0001819	synonymous_variant	80095				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58491454G>A	AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"""Zinc fingers, C2H2-type"", ""-"""	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.594C>T	19.37:g.58491454G>A						ZNF606_ENST00000536132.1_Silent_p.V108V	p.V198V	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)	7	1214	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	198					A8KAN2|Q8NE04|Q96JH5	Silent	SNP	ENST00000341164.4	37	c.594C>T	CCDS12968.1																																																																																				0.423	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	NM_025027		11	116	0	0	0	1	0	11	116				
CACNA2D1	781	broad.mit.edu	37	7	81667473	81667473	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr7:81667473C>T	ENST00000356253.5	-	11	1213	c.958G>A	c.(958-960)Gac>Aac	p.D320N	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.D320N			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	320	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	TTCACCGCGTCTTTCAACACT	0.343																																						ENST00000356860.3																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(958-960)Gac>Aac		calcium channel, voltage-dependent, alpha 2/delta subunit 1	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						144.0	142.0	143.0					7																	81667473		2203	4300	6503	SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81667473C>T	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.958G>A	7.37:g.81667473C>T	ENSP00000348589:p.Asp320Asn					CACNA2D1_ENST00000356253.5_Missense_Mutation_p.D320N	p.D320N	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN			11	1296	-			320			VWFA.		Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.958G>A		.	.	.	.	.	.	.	.	.	.	C	24.3	4.516100	0.85495	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253	T;T	0.13420	2.59;2.59	6.07	6.07	0.98685	.	0.045651	0.85682	D	0.000000	T	0.13329	0.0323	N	0.20685	0.6	0.80722	D	1	B	0.19583	0.037	B	0.21151	0.033	T	0.09250	-1.0683	10	0.72032	D	0.01	-26.6535	20.6525	0.99598	0.0:1.0:0.0:0.0	.	320	P54289-2	.	N	320	ENSP00000349320:D320N;ENSP00000348589:D320N	ENSP00000284088:D320N	D	-	1	0	CACNA2D1	81505409	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.850000	0.69473	2.890000	0.99128	0.585000	0.79938	GAC		0.343	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				37	45	0	0	0	1	0	37	45				
SAMD9L	219285	broad.mit.edu	37	7	92760793	92760793	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr7:92760793C>T	ENST00000318238.4	-	5	5708	c.4492G>A	c.(4492-4494)Gat>Aat	p.D1498N	SAMD9L_ENST00000411955.1_Missense_Mutation_p.D1498N|SAMD9L_ENST00000437805.1_Missense_Mutation_p.D1498N	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1498					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TGTGCTTTATCAAAGTACTGC	0.458																																						ENST00000318238.4																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88						c.(4492-4494)Gat>Aat		sterile alpha motif domain containing 9-like							138.0	131.0	133.0					7																	92760793		2203	4300	6503	SO:0001583	missense	219285							g.chr7:92760793C>T	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.4492G>A	7.37:g.92760793C>T	ENSP00000326247:p.Asp1498Asn					SAMD9L_ENST00000437805.1_Missense_Mutation_p.D1498N|SAMD9L_ENST00000411955.1_Missense_Mutation_p.D1498N	p.D1498N	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	5708	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		1498					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	c.4492G>A	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	C	0.315	-0.965147	0.02249	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805;ENST00000394472	T;T;T	0.22539	1.95;1.95;1.95	5.01	-1.49	0.08718	.	0.409064	0.22804	N	0.055438	T	0.05547	0.0146	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38585	-0.9654	10	0.18276	T	0.48	-1.4455	5.8392	0.18625	0.0:0.3262:0.1361:0.5377	.	1498	Q8IVG5	SAM9L_HUMAN	N	1498;1498;1498;320	ENSP00000326247:D1498N;ENSP00000405760:D1498N;ENSP00000408796:D1498N	ENSP00000326247:D1498N	D	-	1	0	SAMD9L	92598729	0.000000	0.05858	0.016000	0.15963	0.012000	0.07955	0.063000	0.14410	0.088000	0.17205	-0.373000	0.07131	GAT		0.458	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		39	89	0	0	0	1	0	39	89				
PLXNA4	91584	broad.mit.edu	37	7	132193417	132193417	+	Silent	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr7:132193417G>C	ENST00000359827.3	-	2	998	c.36C>G	c.(34-36)ctC>ctG	p.L12L	PLXNA4_ENST00000321063.4_Silent_p.L12L|PLXNA4_ENST00000378539.5_Silent_p.L12L|PLXNA4_ENST00000423507.2_Silent_p.L12L			Q9HCM2	PLXA4_HUMAN	plexin A4	12					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGAGGTGGGAGAGAAGGCAGG	0.637																																						ENST00000359827.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(34-36)ctC>ctG		plexin A4							48.0	30.0	36.0					7																	132193417		2199	4297	6496	SO:0001819	synonymous_variant	91584					integral to membrane|intracellular|plasma membrane		g.chr7:132193417G>C	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.36C>G	7.37:g.132193417G>C						PLXNA4_ENST00000321063.4_Silent_p.L12L|PLXNA4_ENST00000423507.2_Silent_p.L12L|PLXNA4_ENST00000378539.5_Silent_p.L12L	p.L12L			Q9HCM2	PLXA4_HUMAN			2	998	-			12					A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	ENST00000359827.3	37	c.36C>G	CCDS43646.1																																																																																				0.637	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		11	7	0	0	0	1	0	11	7				
C9orf91	203197	broad.mit.edu	37	9	117400877	117400877	+	Silent	SNP	G	G	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:117400877G>T	ENST00000288502.4	+	8	1157	c.720G>T	c.(718-720)gtG>gtT	p.V240V	C9orf91_ENST00000374049.4_Silent_p.V241V			Q5VZI3	CI091_HUMAN	chromosome 9 open reading frame 91	240						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	13						AGACTGGGGTGAGCCCTGCAA	0.557																																						ENST00000374049.4																			0				endometrium(2)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	13						c.(721-723)gtG>gtT		chromosome 9 open reading frame 91							152.0	137.0	142.0					9																	117400877		2203	4300	6503	SO:0001819	synonymous_variant	203197					integral to membrane		g.chr9:117400877G>T	BX649023	CCDS6808.1	9q33.1	2008-02-05			ENSG00000157693	ENSG00000157693			24513	protein-coding gene	gene with protein product						14702039	Standard	NM_153045		Approved	DKFZp547P234, FLJ38045	uc004bjd.4	Q5VZI3	OTTHUMG00000020541	ENST00000288502.4:c.720G>T	9.37:g.117400877G>T						C9orf91_ENST00000288502.4_Silent_p.V240V	p.V241V	NM_153045.3	NP_694590.2	Q5VZI3	CI091_HUMAN			8	1160	+			240					A0PJA3|Q3KNS4|Q5VZI2|Q6P5Z7|Q8N1P3|Q8ND43	Silent	SNP	ENST00000288502.4	37	c.723G>T	CCDS6808.1																																																																																				0.557	C9orf91-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053780.1	NM_153045		54	86	1	0	3.21867e-24	1	3.38434e-24	54	86				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																653390							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		4	51	0	0	0	1	0	4	51				
MYH13	8735	broad.mit.edu	37	17	10253943	10253943	+	Silent	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr17:10253943C>G	ENST00000418404.3	-	11	1237	c.1074G>C	c.(1072-1074)gtG>gtC	p.V358V	MYH13_ENST00000252172.4_Silent_p.V358V			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	358	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.V358V(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CATAATGCATCACGGCTCCCG	0.512																																						ENST00000418404.3																			2	Substitution - coding silent(2)	p.V358V(2)	lung(2)	breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(1072-1074)gtG>gtC		myosin, heavy chain 13, skeletal muscle							133.0	129.0	130.0					17																	10253943		2203	4300	6503	SO:0001819	synonymous_variant	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10253943C>G	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.1074G>C	17.37:g.10253943C>G						MYH13_ENST00000570743.1_Silent_p.V358V|MYH13_ENST00000252172.4_Silent_p.V358V	p.V358V			Q9UKX3	MYH13_HUMAN			11	1237	-			358			Myosin head-like.		O95252|Q9P0U8	Silent	SNP	ENST00000418404.3	37	c.1074G>C	CCDS45613.1																																																																																				0.512	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		12	127	0	0	0	1	0	12	127				
HVCN1	84329	broad.mit.edu	37	12	111099155	111099155	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:111099155G>A	ENST00000356742.5	-	3	873	c.120C>T	c.(118-120)atC>atT	p.I40I	HVCN1_ENST00000242607.8_Silent_p.I40I|HVCN1_ENST00000548312.1_Silent_p.I40I|HVCN1_ENST00000439744.2_Silent_p.I20I			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	40					cellular response to pH (GO:0071467)|cellular response to zinc ion (GO:0071294)|multicellular organism reproduction (GO:0032504)|proton transport (GO:0015992)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	voltage-gated cation channel activity (GO:0022843)|voltage-gated proton channel activity (GO:0030171)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						TCTTGTAGTTGATGTTCCAGG	0.592																																						ENST00000356742.5																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						c.(118-120)atC>atT		hydrogen voltage-gated channel 1							73.0	69.0	70.0					12																	111099155		2203	4300	6503	SO:0001819	synonymous_variant	84329				response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity	g.chr12:111099155G>A	BC007277	CCDS31900.1, CCDS58278.1	12q24.11	2011-12-09	2006-03-24	2006-03-24	ENSG00000122986	ENSG00000122986		"""Voltage-gated ion channels / Hydrogen voltage-gated channel"""	28240	protein-coding gene	gene with protein product	"""voltage sensor domain-only protein"""	611227				20961760, 16556803, 18356202, 22020278	Standard	NM_032369		Approved	MGC15619, Hv1, VSOP	uc001trs.2	Q96D96		ENST00000356742.5:c.120C>T	12.37:g.111099155G>A						HVCN1_ENST00000548312.1_Silent_p.I40I|HVCN1_ENST00000439744.2_Silent_p.I20I|HVCN1_ENST00000242607.8_Silent_p.I40I	p.I40I			Q96D96	HVCN1_HUMAN			3	873	-			40					A8MQ37|B4DEB3|F8WCH5|Q6UW11|Q96IS5	Silent	SNP	ENST00000356742.5	37	c.120C>T	CCDS31900.1																																																																																				0.592	HVCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404653.1	NM_032369		19	62	0	0	0	1	0	19	62				
EPHA2	1969	broad.mit.edu	37	1	16475057	16475057	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:16475057C>G	ENST00000358432.5	-	3	793	c.639G>C	c.(637-639)gaG>gaC	p.E213D	EPHA2_ENST00000461614.1_5'UTR	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	213	Cys-rich.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	CGGCGATGGTCTCAGGGAAGT	0.652																																						ENST00000358432.5																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(637-639)gaG>gaC		EPH receptor A2	Dasatinib(DB01254)						61.0	62.0	62.0					1																	16475057		2203	4300	6503	SO:0001583	missense	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16475057C>G	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.639G>C	1.37:g.16475057C>G	ENSP00000351209:p.Glu213Asp					EPHA2_ENST00000461614.1_5'UTR	p.E213D	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	3	793	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	213			Cys-rich.		B5A968|Q8N3Z2	Missense_Mutation	SNP	ENST00000358432.5	37	c.639G>C	CCDS169.1	.	.	.	.	.	.	.	.	.	.	C	0.216	-1.032880	0.02029	.	.	ENSG00000142627	ENST00000358432	T	0.73789	-0.78	5.07	5.07	0.68467	.	0.000000	0.56097	D	0.000035	T	0.64778	0.2629	L	0.38175	1.15	0.58432	D	0.999997	P;B	0.41673	0.759;0.008	B;B	0.42462	0.388;0.018	T	0.63954	-0.6520	10	0.02654	T	1	.	15.9393	0.79743	0.0:1.0:0.0:0.0	.	213;213	B5A968;P29317	.;EPHA2_HUMAN	D	213	ENSP00000351209:E213D	ENSP00000351209:E213D	E	-	3	2	EPHA2	16347644	1.000000	0.71417	1.000000	0.80357	0.108000	0.19459	2.089000	0.41672	2.358000	0.79984	0.511000	0.50034	GAG		0.652	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431		9	125	0	0	0	1	0	9	125				
LGR6	59352	broad.mit.edu	37	1	202288300	202288300	+	Nonsense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:202288300C>T	ENST00000367278.3	+	18	2958	c.2869C>T	c.(2869-2871)Cag>Tag	p.Q957*	LGR6_ENST00000255432.7_Nonsense_Mutation_p.Q905*|LGR6_ENST00000439764.2_Nonsense_Mutation_p.Q818*	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	957					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TGGCGGCTTTCAGCCCTCTGG	0.582																																						ENST00000367278.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						c.(2869-2871)Cag>Tag		leucine-rich repeat containing G protein-coupled receptor 6							44.0	48.0	46.0					1																	202288300		2203	4300	6503	SO:0001587	stop_gained	59352					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr1:202288300C>T	AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"""GPCR / Class A : Orphans"""	19719	protein-coding gene	gene with protein product		606653	"""leucine-rich repeat-containing G protein-coupled receptor 6"""			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.2869C>T	1.37:g.202288300C>T	ENSP00000356247:p.Gln957*					LGR6_ENST00000439764.2_Nonsense_Mutation_p.Q818*|LGR6_ENST00000255432.7_Nonsense_Mutation_p.Q905*	p.Q957*	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN			18	2958	+			957					Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Nonsense_Mutation	SNP	ENST00000367278.3	37	c.2869C>T	CCDS30971.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.411379	0.83340	.	.	ENSG00000133067	ENST00000367278;ENST00000255432;ENST00000439764	.	.	.	5.26	2.28	0.28536	.	0.698251	0.12508	N	0.462681	.	.	.	.	.	.	0.42677	D	0.993533	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.9062	0.19002	0.1527:0.6835:0.0:0.1638	.	.	.	.	X	957;905;818	.	ENSP00000255432:Q905X	Q	+	1	0	LGR6	200554923	0.258000	0.24033	0.004000	0.12327	0.016000	0.09150	0.031000	0.13710	0.285000	0.22329	0.485000	0.47835	CAG		0.582	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636		33	46	0	0	0	1	0	33	46				
CD44	960	broad.mit.edu	37	11	35227665	35227665	+	Missense_Mutation	SNP	C	C	T	rs371026548		TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:35227665C>T	ENST00000428726.2	+	11	1412	c.1289C>T	c.(1288-1290)tCa>tTa	p.S430L	CD44_ENST00000434472.2_Intron|CD44_ENST00000352818.4_Intron|CD44_ENST00000360158.4_Intron|CD44_ENST00000526669.2_Intron|CD44_ENST00000433354.2_Missense_Mutation_p.S431L|CD44_ENST00000263398.6_Intron|CD44_ENST00000278386.6_Intron|CD44_ENST00000449691.2_Missense_Mutation_p.S387L|CD44_ENST00000437706.2_Missense_Mutation_p.S430L|CD44_ENST00000415148.2_Missense_Mutation_p.S387L|CD44_ENST00000433892.2_Intron	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	430	Stem.				blood coagulation (GO:0007596)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|monocyte aggregation (GO:0070487)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|Wnt signaling pathway (GO:0016055)|wound healing involved in inflammatory response (GO:0002246)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronan(DB08818)	ACAGCAGCCTCAGCTCATACC	0.453																																						ENST00000428726.2																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23						c.(1288-1290)tCa>tTa		CD44 molecule (Indian blood group)	Hyaluronidase(DB00070)	C	LEU/SER,LEU/SER,,,,,,	1,4403	2.1+/-5.4	0,1,2201	162.0	123.0	136.0		1289,1160,,,,,,	4.0	0.2	11		136	0,8596		0,0,4298	no	missense,missense,intron,intron,intron,intron,intron,intron	CD44	NM_000610.3,NM_001001389.1,NM_001001390.1,NM_001001391.1,NM_001001392.1,NM_001202555.1,NM_001202556.1,NM_001202557.1	145,145,,,,,,	0,1,6499	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,,,,,,	430/743,387/700,,,,,,	35227665	1,12999	2202	4298	6500	SO:0001583	missense	960				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity	g.chr11:35227665C>T	M59040	CCDS7897.1, CCDS31455.1, CCDS31456.1, CCDS31457.1, CCDS31458.1, CCDS55754.1, CCDS55755.1	11p13	2014-07-18	2006-03-28		ENSG00000026508	ENSG00000026508		"""CD molecules"", ""Blood group antigens"", ""Proteoglycans / Cell surface : Other"""	1681	protein-coding gene	gene with protein product	"""hematopoietic cell E- and L-selectin ligand"", ""chondroitin sulfate proteoglycan 8"""	107269	"""CD44 antigen (homing function and Indian blood group system)"""	MIC4, MDU2, MDU3		2454887	Standard	NM_001202555		Approved	IN, MC56, Pgp1, CD44R, HCELL, CSPG8	uc001mvu.3	P16070	OTTHUMG00000044388	ENST00000428726.2:c.1289C>T	11.37:g.35227665C>T	ENSP00000398632:p.Ser430Leu					CD44_ENST00000352818.4_Intron|CD44_ENST00000263398.6_Intron|CD44_ENST00000449691.2_Missense_Mutation_p.S387L|CD44_ENST00000437706.2_Missense_Mutation_p.S430L|CD44_ENST00000434472.2_Intron|CD44_ENST00000433892.2_Intron|CD44_ENST00000278386.6_Intron|CD44_ENST00000433354.2_Missense_Mutation_p.S431L|CD44_ENST00000415148.2_Missense_Mutation_p.S387L|CD44_ENST00000360158.4_Intron|CD44_ENST00000526669.2_Intron	p.S430L	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	STAD - Stomach adenocarcinoma(6;0.00731)		11	1412	+	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	430			Stem.		A5YRN9|B6EAT9|D3DR12|D3DR13|O95370|P22511|Q04858|Q13419|Q13957|Q13958|Q13959|Q13960|Q13961|Q13967|Q13968|Q13980|Q15861|Q16064|Q16065|Q16066|Q16208|Q16522|Q86T72|Q86Z27|Q8N694|Q92493|Q96J24|Q9H5A5|Q9UC28|Q9UC29|Q9UC30|Q9UCB0|Q9UJ36	Missense_Mutation	SNP	ENST00000428726.2	37	c.1289C>T	CCDS7897.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.035161	0.35893	2.27E-4	0.0	ENSG00000026508	ENST00000415148;ENST00000433354;ENST00000449691;ENST00000437706;ENST00000428726;ENST00000525211;ENST00000531110	T;T;T;T;T;T;T	0.20463	2.21;2.21;2.21;2.21;2.21;2.07;2.21	4.87	3.95	0.45737	.	0.641922	0.13911	N	0.354275	T	0.24160	0.0585	M	0.62723	1.935	0.22947	N	0.998524	P;B	0.36909	0.573;0.437	B;B	0.36244	0.22;0.154	T	0.11494	-1.0585	10	0.56958	D	0.05	-7.1208	11.2771	0.49174	0.0:0.8158:0.1842:0.0	.	387;430	P16070-4;P16070	.;CD44_HUMAN	L	387;431;387;430;430;204;142	ENSP00000389830:S387L;ENSP00000414567:S431L;ENSP00000391008:S387L;ENSP00000403990:S430L;ENSP00000398632:S430L;ENSP00000432405:S204L;ENSP00000436549:S142L	ENSP00000389830:S387L	S	+	2	0	CD44	35184241	0.017000	0.18338	0.201000	0.23476	0.010000	0.07245	1.949000	0.40313	1.389000	0.46526	-0.175000	0.13238	TCA		0.453	CD44-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388927.1	NM_000610		28	159	0	0	0	1	0	28	159				
TREM2	54209	broad.mit.edu	37	6	41126342	41126342	+	3'UTR	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:41126342C>T	ENST00000373113.3	-	0	946				TREM2_ENST00000373122.4_3'UTR|TREM2_ENST00000338469.3_Silent_p.*220*	NM_018965.2	NP_061838.1	Q9NZC2	TREM2_HUMAN	triggering receptor expressed on myeloid cells 2						axon guidance (GO:0007411)|dendritic cell differentiation (GO:0097028)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|positive regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002588)|positive regulation of C-C chemokine receptor CCR7 signaling pathway (GO:1903082)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of CD40 signaling pathway (GO:2000350)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein localization to plasma membrane (GO:1903078)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			breast(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	11	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCCACTCCCTCAACCAGTCCC	0.468																																						ENST00000338469.3																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	11						c.(658-660)tGa>tAa		triggering receptor expressed on myeloid cells 2																																				SO:0001624	3_prime_UTR_variant	54209				axon guidance|humoral immune response	extracellular region|integral to membrane|plasma membrane	receptor activity	g.chr6:41126342C>T	AF213457	CCDS4852.1, CCDS64422.1	6p21.1	2014-09-17	2002-08-15		ENSG00000095970	ENSG00000095970		"""Immunoglobulin superfamily / V-set domain containing"""	17761	protein-coding gene	gene with protein product		605086	"""triggering receptor expressed on myeloid cells 2a"""			10799849, 12080485	Standard	NM_001271821		Approved	TREM-2, Trem2a, Trem2b, Trem2c	uc003opy.3	Q9NZC2	OTTHUMG00000014671	ENST00000373113.3:c.*160G>A	6.37:g.41126342C>T						TREM2_ENST00000373113.3_3'UTR|TREM2_ENST00000373122.4_3'UTR	p.*220*	NM_001271821.1	NP_001258750.1	Q9NZC2	TREM2_HUMAN			4	762	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		0					Q8N5H8|Q8WYN6	Silent	SNP	ENST00000373113.3	37	c.659G>A	CCDS4852.1																																																																																				0.468	TREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040499.1	NM_018965		4	5	0	0	0	1	0	4	5				
OLFM1	10439	broad.mit.edu	37	9	137987761	137987761	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:137987761G>C	ENST00000371793.3	+	3	603	c.352G>C	c.(352-354)Gac>Cac	p.D118H	OLFM1_ENST00000277415.11_Missense_Mutation_p.D100H|OLFM1_ENST00000392991.4_Missense_Mutation_p.D118H|OLFM1_ENST00000371796.3_Missense_Mutation_p.D91H|OLFM1_ENST00000252854.4_Missense_Mutation_p.D100H	NM_001282611.1	NP_001269540.1	Q99784	NOE1_HUMAN	olfactomedin 1	118					negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of neuron migration (GO:2001223)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		GACCCAGAGAGACTTGCAGTA	0.517																																						ENST00000252854.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21						c.(298-300)Gac>Cac		olfactomedin 1							187.0	154.0	165.0					9																	137987761		2203	4300	6503	SO:0001583	missense	10439				nervous system development	endoplasmic reticulum lumen	protein binding	g.chr9:137987761G>C	AF035301	CCDS6986.1, CCDS6987.1, CCDS65183.1, CCDS65184.1	9q34.3	2014-01-20			ENSG00000130558	ENSG00000130558			17187	protein-coding gene	gene with protein product	"""pancortin"""	605366				9039501	Standard	NM_006334		Approved	NOE1, OlfA, AMY, NOELIN	uc004cfl.4	Q99784	OTTHUMG00000020897	ENST00000371793.3:c.352G>C	9.37:g.137987761G>C	ENSP00000360858:p.Asp118His					OLFM1_ENST00000392991.4_Missense_Mutation_p.D118H|OLFM1_ENST00000277415.11_Missense_Mutation_p.D100H|OLFM1_ENST00000371793.3_Missense_Mutation_p.D118H|OLFM1_ENST00000371796.3_Missense_Mutation_p.D91H	p.D100H	NM_014279.4	NP_055094.1	Q99784	NOE1_HUMAN		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)	3	485	+		Myeloproliferative disorder(178;0.0333)	118					Q53XZ8|Q6IMJ4|Q6IMJ5|Q8N8R0|Q969S7|Q99452	Missense_Mutation	SNP	ENST00000371793.3	37	c.298G>C		.	.	.	.	.	.	.	.	.	.	g	27.5	4.837761	0.91117	.	.	ENSG00000130558	ENST00000277415;ENST00000252854;ENST00000339720;ENST00000371796;ENST00000539529;ENST00000392991;ENST00000371793;ENST00000539877	T;T;T;T;T;T;T;T	0.61980	0.06;0.06;0.06;0.06;0.06;0.06;0.06;0.06	4.65	4.65	0.58169	.	0.100129	0.64402	D	0.000002	T	0.77308	0.4111	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.89917	0.988;1.0;0.998;1.0	P;D;D;D	0.85130	0.853;0.997;0.98;0.993	T	0.79734	-0.1679	10	0.59425	D	0.04	.	17.6577	0.88182	0.0:0.0:1.0:0.0	.	118;118;100;100	Q99784;Q99784-2;Q6IMJ8;Q6IMJ7	NOE1_HUMAN;.;.;.	H	100;100;107;91;35;118;118;15	ENSP00000277415:D100H;ENSP00000252854:D100H;ENSP00000340318:D107H;ENSP00000360861:D91H;ENSP00000444296:D35H;ENSP00000376717:D118H;ENSP00000360858:D118H;ENSP00000443806:D15H	ENSP00000252854:D100H	D	+	1	0	OLFM1	137127582	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	9.602000	0.98312	2.175000	0.68902	0.627000	0.83407	GAC		0.517	OLFM1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000054974.1	NM_014279		5	94	0	0	0	1	0	5	94				
NPAS2	4862	broad.mit.edu	37	2	101609899	101609899	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:101609899G>A	ENST00000335681.5	+	20	2487	c.2202G>A	c.(2200-2202)caG>caA	p.Q734Q	NPAS2_ENST00000542504.1_Silent_p.Q799Q|AC016738.4_ENST00000452364.1_RNA	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	734					cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGATGGGGCAGGCGGTGCTCC	0.672																																						ENST00000335681.5																			0				cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2200-2202)caG>caA		neuronal PAS domain protein 2							35.0	28.0	30.0					2																	101609899		2203	4300	6503	SO:0001819	synonymous_variant	4862				central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:101609899G>A	U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"""Basic helix-loop-helix proteins"""	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.2202G>A	2.37:g.101609899G>A						NPAS2_ENST00000542504.1_Silent_p.Q799Q	p.Q734Q	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN			20	2487	+			734					Q4ZFV9|Q53SQ3|Q86V96|Q99629	Silent	SNP	ENST00000335681.5	37	c.2202G>A	CCDS2048.1	.	.	.	.	.	.	.	.	.	.	G	12.63	1.995005	0.35226	.	.	ENSG00000170485	ENST00000450763;ENST00000433408	T	0.28666	1.6	5.58	1.18	0.20946	.	.	.	.	.	T	0.32406	0.0828	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.04268	-1.0964	5	.	.	.	.	7.897	0.29712	0.6614:0.0:0.3386:0.0	.	.	.	.	S	173;233	ENSP00000392125:G173S	.	G	+	1	0	NPAS2	100976331	1.000000	0.71417	0.984000	0.44739	0.830000	0.47004	1.573000	0.36472	0.250000	0.21479	0.563000	0.77884	GGC		0.672	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253168.3			35	35	0	0	0	1	0	35	35				
FAM21A	387680	broad.mit.edu	37	10	51863892	51863892	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr10:51863892G>A	ENST00000282633.5	+	18	1771	c.1726G>A	c.(1726-1728)Gaa>Aaa	p.E576K	FAM21A_ENST00000399339.2_Missense_Mutation_p.E488K|FAM21A_ENST00000351071.6_Missense_Mutation_p.E576K|FAM21A_ENST00000314664.7_Missense_Mutation_p.E576K	NM_001005751.1	NP_001005751.1	Q641Q2	FA21A_HUMAN	family with sequence similarity 21, member A	576					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|WASH complex (GO:0071203)				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	15						GTTTGATGATGAAGATGAAGA	0.408																																						ENST00000351071.6																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	15						c.(1726-1728)Gaa>Aaa		family with sequence similarity 21, member A							86.0	72.0	76.0					10																	51863892		1803	3804	5607	SO:0001583	missense	387680				retrograde transport, endosome to Golgi	early endosome membrane|WASH complex		g.chr10:51863892G>A	BC082258	CCDS41527.1	10q11.23	2014-06-19			ENSG00000099290	ENSG00000099290			23416	protein-coding gene	gene with protein product			"""family with sequence similarity 21, member B"""	FAM21B			Standard	XM_005269805		Approved	bA56A21.1, bA98I6.1, FLJ10824	uc001jjb.3	Q641Q2	OTTHUMG00000018225	ENST00000282633.5:c.1726G>A	10.37:g.51863892G>A	ENSP00000282633:p.Glu576Lys					FAM21A_ENST00000314664.7_Missense_Mutation_p.E576K|FAM21A_ENST00000399339.2_Missense_Mutation_p.E488K|FAM21A_ENST00000282633.5_Missense_Mutation_p.E576K	p.E576K			Q641Q2	FA21A_HUMAN			18	1844	+			576					A2A3S2|A2A3U6|Q6DHY0	Missense_Mutation	SNP	ENST00000282633.5	37	c.1726G>A	CCDS41527.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.460610	0.43736	.	.	ENSG00000099290	ENST00000351071;ENST00000314664;ENST00000434114;ENST00000282633;ENST00000399339	.	.	.	3.2	3.2	0.36748	.	0.240127	0.40385	N	0.001103	T	0.67692	0.2920	M	0.74881	2.28	0.44181	D	0.996995	D;P;P;D;D	0.67145	0.996;0.948;0.466;0.981;0.971	D;P;B;P;P	0.65140	0.932;0.705;0.263;0.794;0.654	T	0.66073	-0.6014	9	0.12766	T	0.61	-12.3188	10.2638	0.43443	0.0:0.0:1.0:0.0	.	576;576;488;576;470	E7ESD2;Q641Q2-2;F8W7U3;Q641Q2;Q5T1D7	.;.;.;FA21A_HUMAN;.	K	576;576;470;576;488	.	ENSP00000282633:E576K	E	+	1	0	FAM21A	51533898	1.000000	0.71417	1.000000	0.80357	0.126000	0.20510	4.486000	0.60286	1.510000	0.48803	0.184000	0.17185	GAA		0.408	FAM21A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276917.2	NM_001005751		23	6	0	0	0	1	0	23	6				
GJB4	127534	broad.mit.edu	37	1	35227413	35227413	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:35227413C>T	ENST00000339480.1	+	2	928	c.558C>T	c.(556-558)ttC>ttT	p.F186F	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	186					cell communication (GO:0007154)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				AGAAGGTCTTCACCTACTTCA	0.577																																						ENST00000339480.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16						c.(556-558)ttC>ttT		gap junction protein, beta 4, 30.3kDa							65.0	57.0	60.0					1																	35227413		2203	4300	6503	SO:0001819	synonymous_variant	127534				cell communication	connexon complex|integral to membrane	gap junction channel activity	g.chr1:35227413C>T		CCDS383.1	1p35-p34	2008-05-14	2007-11-06		ENSG00000189433	ENSG00000189433		"""Ion channels / Gap junction proteins (connexins)"""	4286	protein-coding gene	gene with protein product	"""connexin 30.3"""	605425	"""gap junction protein, beta 4 (connexin 30.3)"", ""gap junction protein, beta 4"""				Standard	NM_153212		Approved	CX30.3	uc001bxv.1	Q9NTQ9	OTTHUMG00000004052	ENST00000339480.1:c.558C>T	1.37:g.35227413C>T						RP1-34M23.5_ENST00000542839.1_RNA	p.F186F	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN			2	928	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)	186					B3KQ82	Silent	SNP	ENST00000339480.1	37	c.558C>T	CCDS383.1																																																																																				0.577	GJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011560.1	NM_153212		19	46	0	0	0	1	0	19	46				
LRRTM4	80059	broad.mit.edu	37	2	77745691	77745691	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:77745691G>A	ENST00000409093.1	-	3	1640	c.1304C>T	c.(1303-1305)tCa>tTa	p.S435L	LRRTM4_ENST00000409884.1_Missense_Mutation_p.S435L|LRRTM4_ENST00000409911.1_Missense_Mutation_p.S436L|LRRTM4_ENST00000409088.3_Missense_Mutation_p.S435L|LRRTM4_ENST00000409282.1_Missense_Mutation_p.S436L			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	435					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CATGGCCACTGAGAGAAAGAG	0.498																																						ENST00000409088.3																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64						c.(1303-1305)tCa>tTa		leucine rich repeat transmembrane neuronal 4							70.0	72.0	71.0					2																	77745691		1978	4168	6146	SO:0001583	missense	80059					integral to membrane		g.chr2:77745691G>A	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.1304C>T	2.37:g.77745691G>A	ENSP00000386357:p.Ser435Leu					LRRTM4_ENST00000409884.1_Missense_Mutation_p.S435L|LRRTM4_ENST00000409282.1_Missense_Mutation_p.S436L|LRRTM4_ENST00000409093.1_Missense_Mutation_p.S435L|LRRTM4_ENST00000409911.1_Missense_Mutation_p.S436L	p.S435L	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	1718	-			435					Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	c.1304C>T	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.261963	0.59431	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.86510	0.5950	M	0.78637	2.42	0.80722	D	1	D;D;D	0.71674	0.997;0.998;0.997	D;D;D	0.72338	0.948;0.977;0.962	D	0.86613	0.1874	10	0.52906	T	0.07	.	18.3564	0.90358	0.0:0.0:1.0:0.0	.	436;435;435	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	L	436;435;435;435;436	ENSP00000387228:S436L;ENSP00000387297:S435L;ENSP00000386357:S435L;ENSP00000386236:S435L;ENSP00000386286:S436L	ENSP00000386236:S435L	S	-	2	0	LRRTM4	77599199	1.000000	0.71417	0.264000	0.24511	0.982000	0.71751	8.010000	0.88615	2.670000	0.90874	0.655000	0.94253	TCA		0.498	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		10	87	0	0	0	1	0	10	87				
ZNF721	170960	broad.mit.edu	37	4	436773	436773	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:436773G>T	ENST00000338977.5	-	2	1495	c.1447C>A	c.(1447-1449)Cat>Aat	p.H483N	ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Missense_Mutation_p.H495N|ZNF721_ENST00000506646.1_Intron			Q8TF20	ZN721_HUMAN	zinc finger protein 721	483					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TCGCCAGTATGAATCCTCTTA	0.373																																						ENST00000338977.5																			0				endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						c.(1447-1449)Cat>Aat		zinc finger protein 721							78.0	84.0	82.0					4																	436773		2072	4242	6314	SO:0001583	missense	170960							g.chr4:436773G>T	AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.1447C>A	4.37:g.436773G>T	ENSP00000340524:p.His483Asn					ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Missense_Mutation_p.H495N|ZNF721_ENST00000506646.1_Intron	p.H483N							2	1495	-								Q69YG7	Missense_Mutation	SNP	ENST00000338977.5	37	c.1447C>A		.	.	.	.	.	.	.	.	.	.	G	13.77	2.336195	0.41398	.	.	ENSG00000182903	ENST00000338977;ENST00000511833	T;T	0.67345	-0.26;-0.26	0.71	0.71	0.18157	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.73218	0.3559	M	0.89658	3.05	0.32763	N	0.504897	D;P;P	0.52996	0.957;0.884;0.859	P;P;B	0.48166	0.532;0.569;0.433	T	0.78700	-0.2102	9	0.87932	D	0	.	7.2684	0.26242	1.0E-4:0.0:0.9999:0.0	.	483;495;495	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	N	483;495	ENSP00000340524:H483N;ENSP00000428878:H495N	ENSP00000340524:H483N	H	-	1	0	ZNF721	426773	1.000000	0.71417	0.006000	0.13384	0.011000	0.07611	6.554000	0.73923	0.677000	0.31305	0.194000	0.17425	CAT		0.373	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474		29	39	1	0	2.12542e-12	1	2.18265e-12	29	39				
KCNK7	10089	broad.mit.edu	37	11	65365776	65365776	+	5'Flank	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:65365776C>T	ENST00000340313.4	-	0	0				KCNK7_ENST00000342202.4_5'Flank|MAP3K11_ENST00000534432.1_5'Flank|KCNK7_ENST00000394217.2_5'Flank|MAP3K11_ENST00000309100.3_Missense_Mutation_p.E844K|MAP3K11_ENST00000530153.1_Missense_Mutation_p.E587K|KCNK7_ENST00000394216.2_5'Flank|MAP3K11_ENST00000532507.1_Missense_Mutation_p.E260K	NM_033347.1	NP_203133.1	Q9Y2U2	KCNK7_HUMAN	potassium channel, subfamily K, member 7						potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			endometrium(1)|liver(1)|lung(1)	3						GGCCCCGCTTCCGGCACCCAC	0.677																																						ENST00000309100.3																			0				breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						c.(2530-2532)Gaa>Aaa		mitogen-activated protein kinase kinase kinase 11							7.0	9.0	9.0					11																	65365776		2171	4264	6435	SO:0001631	upstream_gene_variant	4296				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity	g.chr11:65365776C>T	AF110522	CCDS8106.1, CCDS31608.1, CCDS41673.1	11q13	2012-03-07			ENSG00000173338	ENSG00000173338		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6282	protein-coding gene	gene with protein product		603940				10206991, 11256078, 16382106	Standard	NM_033347		Approved	K2p7.1	uc001oes.3	Q9Y2U2	OTTHUMG00000166528		11.37:g.65365776C>T	Exception_encountered					MAP3K11_ENST00000530153.1_Missense_Mutation_p.E587K|MAP3K11_ENST00000532507.1_Missense_Mutation_p.E260K	p.E844K	NM_002419.3	NP_002410.1	Q16584	M3K11_HUMAN			10	3015	-			844					Q3SYI2|Q9Y2U3|Q9Y2U4	Missense_Mutation	SNP	ENST00000340313.4	37	c.2530G>A	CCDS31608.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.635142	0.47049	.	.	ENSG00000173327	ENST00000309100;ENST00000532507;ENST00000530153	T;T	0.79033	-1.08;-1.23	5.39	5.39	0.77823	.	0.295124	0.27876	N	0.017497	T	0.72661	0.3488	N	0.22421	0.69	0.37198	D	0.904229	P;P	0.50819	0.939;0.895	P;B	0.48627	0.584;0.264	T	0.79369	-0.1832	10	0.66056	D	0.02	.	14.9864	0.71351	0.0:1.0:0.0:0.0	.	333;844	B3KQY4;Q16584	.;M3K11_HUMAN	K	844;260;587	ENSP00000309597:E844K;ENSP00000433886:E587K	ENSP00000309597:E844K	E	-	1	0	MAP3K11	65122352	0.993000	0.37304	0.814000	0.32528	0.019000	0.09904	4.516000	0.60496	2.684000	0.91462	0.655000	0.94253	GAA		0.677	KCNK7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390206.1	NM_005714		6	15	0	0	0	1	0	6	15				
DST	667	broad.mit.edu	37	6	56458919	56458919	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:56458919C>G	ENST00000361203.3	-	44	11642	c.11635G>C	c.(11635-11637)Gag>Cag	p.E3879Q	DST_ENST00000370788.2_Missense_Mutation_p.E1793Q|DST_ENST00000312431.6_Missense_Mutation_p.E3879Q|DST_ENST00000370769.4_Missense_Mutation_p.E3881Q|DST_ENST00000370754.5_Missense_Mutation_p.E4059Q|DST_ENST00000446842.2_Missense_Mutation_p.E3555Q|DST_ENST00000421834.2_Missense_Mutation_p.E1793Q|DST_ENST00000244364.6_Missense_Mutation_p.E1467Q			Q03001	DYST_HUMAN	dystonin	3879					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCCTGTTTCTCAAGCAACACT	0.423																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(12175-12177)Gag>Cag		dystonin							149.0	137.0	141.0					6																	56458919		1951	4150	6101	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56458919C>G	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.11635G>C	6.37:g.56458919C>G	ENSP00000354508:p.Glu3879Gln					DST_ENST00000361203.3_Missense_Mutation_p.E3879Q|DST_ENST00000421834.2_Missense_Mutation_p.E1793Q|DST_ENST00000244364.6_Missense_Mutation_p.E1467Q|DST_ENST00000446842.2_Missense_Mutation_p.E3555Q|DST_ENST00000370788.2_Missense_Mutation_p.E1793Q|DST_ENST00000370769.4_Missense_Mutation_p.E3881Q|DST_ENST00000312431.6_Missense_Mutation_p.E3879Q	p.E4059Q			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		48	12174	-	Lung NSC(77;0.103)		3879					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.12175G>C		.	.	.	.	.	.	.	.	.	.	C	16.55	3.155825	0.57259	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203	T;T;T;T;T;D;T;T	0.82619	1.34;1.34;1.34;1.34;1.34;-1.63;1.34;1.34	5.55	5.55	0.83447	.	0.000000	0.56097	D	0.000036	D	0.85809	0.5783	M	0.63428	1.95	0.26527	N	0.974326	P;D;P;P;P	0.53312	0.813;0.959;0.933;0.487;0.904	B;P;P;B;P	0.61003	0.398;0.756;0.882;0.193;0.733	T	0.80828	-0.1208	9	0.17832	T	0.49	.	19.8703	0.96847	0.0:1.0:0.0:0.0	.	1793;3881;4059;3879;1467	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	Q	1467;4059;3881;1793;3555;3879;1793;3879	ENSP00000244364:E1467Q;ENSP00000359790:E4059Q;ENSP00000359805:E3881Q;ENSP00000400883:E1793Q;ENSP00000393645:E3555Q;ENSP00000307959:E3879Q;ENSP00000359824:E1793Q;ENSP00000354508:E3879Q	ENSP00000244364:E1467Q	E	-	1	0	DST	56566878	1.000000	0.71417	0.968000	0.41197	0.430000	0.31655	7.416000	0.80143	2.770000	0.95276	0.650000	0.86243	GAG		0.423	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		11	217	0	0	0	1	0	11	217				
PARP9	83666	broad.mit.edu	37	3	122259339	122259339	+	Missense_Mutation	SNP	C	C	T	rs559272508		TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:122259339C>T	ENST00000360356.2	-	8	2077	c.1850G>A	c.(1849-1851)cGa>cAa	p.R617Q	PARP9_ENST00000471785.1_Missense_Mutation_p.R582Q|PARP9_ENST00000462315.1_Missense_Mutation_p.R582Q|PARP9_ENST00000492382.1_Missense_Mutation_p.R162Q|PARP9_ENST00000477522.2_Missense_Mutation_p.R582Q	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	617					cell migration (GO:0016477)|double-strand break repair (GO:0006302)|regulation of response to interferon-gamma (GO:0060330)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		CCAAAGGCCTCGCTCCTTTTT	0.428													C|||	1	0.000199681	0.0	0.0014	5008	,	,		22034	0.0		0.0	False		,,,				2504	0.0					ENST00000462315.1																			0				endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34						c.(1744-1746)cGa>cAa		poly (ADP-ribose) polymerase family, member 9							67.0	64.0	65.0					3																	122259339		2203	4300	6503	SO:0001583	missense	83666				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr3:122259339C>T	AF307339	CCDS3014.1, CCDS54633.1, CCDS54634.1	3q13-q21	2010-02-16			ENSG00000138496	ENSG00000138496		"""Poly (ADP-ribose) polymerases"""	24118	protein-coding gene	gene with protein product		612065				11110709	Standard	NM_031458		Approved	BAL, BAL1	uc003efi.3	Q8IXQ6	OTTHUMG00000159522	ENST00000360356.2:c.1850G>A	3.37:g.122259339C>T	ENSP00000353512:p.Arg617Gln					PARP9_ENST00000492382.1_Missense_Mutation_p.R162Q|PARP9_ENST00000477522.2_Missense_Mutation_p.R582Q|PARP9_ENST00000360356.2_Missense_Mutation_p.R617Q|PARP9_ENST00000471785.1_Missense_Mutation_p.R582Q	p.R582Q	NM_001146106.1	NP_001139578.1	Q8IXQ6	PARP9_HUMAN		GBM - Glioblastoma multiforme(114;0.0519)	8	2038	-			617					A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Missense_Mutation	SNP	ENST00000360356.2	37	c.1745G>A	CCDS3014.1	.	.	.	.	.	.	.	.	.	.	C	4.141	0.024476	0.08054	.	.	ENSG00000138496	ENST00000360356;ENST00000492382;ENST00000477522;ENST00000471785;ENST00000452457;ENST00000462315	T;T;T;T;T	0.17054	3.3;2.96;3.15;3.15;2.3	4.15	-8.31	0.01001	.	2.190020	0.02093	N	0.053293	T	0.08268	0.0206	N	0.11560	0.145	0.09310	N	1	B;B;B;B	0.14438	0.001;0.002;0.01;0.002	B;B;B;B	0.10450	0.001;0.002;0.001;0.005	T	0.19943	-1.0290	10	0.14656	T	0.56	.	10.7635	0.46279	0.115:0.6466:0.0:0.2384	.	582;617;162;582	E9PFM7;Q8IXQ6;G5E9U8;Q8IXQ6-2	.;PARP9_HUMAN;.;.	Q	617;162;582;582;540;582	ENSP00000353512:R617Q;ENSP00000417664:R162Q;ENSP00000419506:R582Q;ENSP00000419001:R582Q;ENSP00000418894:R582Q	ENSP00000353512:R617Q	R	-	2	0	PARP9	123742029	0.000000	0.05858	0.000000	0.03702	0.189000	0.23516	-2.295000	0.01143	-2.546000	0.00482	-0.247000	0.11927	CGA		0.428	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355957.1	NM_031458		35	33	0	0	0	1	0	35	33				
TTN	7273	broad.mit.edu	37	2	179615864	179615864	+	Intron	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:179615864C>T	ENST00000591111.1	-	45	10585				TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.D3755N			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAGCTAGATCAGACATAGAT	0.353																																						ENST00000360870.5																			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.(11263-11265)Gat>Aat		titin							70.0	70.0	70.0					2																	179615864		2201	4295	6496	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179615864C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+1986G>A	2.37:g.179615864C>T						TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	p.D3755N	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	11485	-			9599					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.11263G>A		.	.	.	.	.	.	.	.	.	.	C	18.63	3.664497	0.67700	.	.	ENSG00000155657	ENST00000360870	T	0.58210	0.35	5.61	3.69	0.42338	.	.	.	.	.	T	0.33469	0.0864	N	0.14661	0.345	0.09310	N	1	B	0.30973	0.302	B	0.30572	0.117	T	0.14062	-1.0486	9	0.19147	T	0.46	.	10.7163	0.46015	0.1254:0.5203:0.3543:0.0	.	3755	Q8WZ42-6	.	N	3755	ENSP00000354117:D3755N	ENSP00000354117:D3755N	D	-	1	0	TTN	179324109	0.012000	0.17670	0.113000	0.21522	0.162000	0.22319	0.905000	0.28504	1.478000	0.48253	0.655000	0.94253	GAT		0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		25	33	0	0	0	1	0	25	33				
USP31	57478	broad.mit.edu	37	16	23083524	23083524	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:23083524G>A	ENST00000567975.1	-	1	345	c.209C>T	c.(208-210)tCt>tTt	p.S70F	USP31_ENST00000219689.7_Intron			Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0					ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GGAGCCTGCAGAGAAGAAAAC	0.622																																						ENST00000567975.1																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57						c.(208-210)tCt>tTt		ubiquitin specific peptidase 31							21.0	24.0	23.0					16																	23083524		2197	4299	6496	SO:0001583	missense	57478				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr16:23083524G>A	AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000567975.1:c.209C>T	16.37:g.23083524G>A	ENSP00000461621:p.Ser70Phe					USP31_ENST00000219689.7_Intron	p.S70F			Q70CQ4	UBP31_HUMAN		GBM - Glioblastoma multiforme(48;0.0187)	1	345	-			0					B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000567975.1	37	c.209C>T																																																																																					0.622	USP31-004	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000434003.2	NM_020718		18	25	0	0	0	1	0	18	25				
HTR1B	3351	broad.mit.edu	37	6	78172113	78172113	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:78172113C>T	ENST00000369947.2	-	1	1377	c.1008G>A	c.(1006-1008)gtG>gtA	p.V336V		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	336					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|bone remodeling (GO:0046849)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to temperature stimulus (GO:0071502)|drinking behavior (GO:0042756)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Methysergide(DB00247)|Naratriptan(DB00952)|Olanzapine(DB00334)|Ondansetron(DB00904)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	AGATAGGCATCACTAGGGAGA	0.493																																						ENST00000369947.2																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25						c.(1006-1008)gtG>gtA		5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)						139.0	125.0	130.0					6																	78172113		2203	4300	6503	SO:0001819	synonymous_variant	3351				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity	g.chr6:78172113C>T	BC069065	CCDS4986.1	6q13	2012-08-08	2012-02-03		ENSG00000135312	ENSG00000135312		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5287	protein-coding gene	gene with protein product		182131	"""5-hydroxytryptamine (serotonin) receptor 1B"""			1348246, 11247661	Standard	NM_000863		Approved	S12, 5-HT1B, HTR1D2, 5-HT1DB	uc003pil.1	P28222	OTTHUMG00000015066	ENST00000369947.2:c.1008G>A	6.37:g.78172113C>T							p.V336V	NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.205)	1	1377	-		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)	336					Q4VAY7	Silent	SNP	ENST00000369947.2	37	c.1008G>A	CCDS4986.1																																																																																				0.493	HTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041292.1	NM_000863		34	98	0	0	0	1	0	34	98				
ABCA9	10350	broad.mit.edu	37	17	67023183	67023183	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr17:67023183C>G	ENST00000340001.4	-	15	2195	c.1984G>C	c.(1984-1986)Gag>Cag	p.E662Q	ABCA9_ENST00000453985.2_Missense_Mutation_p.E662Q|ABCA9_ENST00000370732.2_Missense_Mutation_p.E662Q	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	662	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GATTTCCCCTCTTTCAGGAGA	0.423																																						ENST00000340001.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.(1984-1986)Gag>Cag		ATP-binding cassette, sub-family A (ABC1), member 9							85.0	85.0	85.0					17																	67023183		2203	4300	6503	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67023183C>G	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.1984G>C	17.37:g.67023183C>G	ENSP00000342216:p.Glu662Gln					ABCA9_ENST00000370732.2_Missense_Mutation_p.E662Q|ABCA9_ENST00000453985.2_Missense_Mutation_p.E662Q	p.E662Q	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN			15	2195	-	Breast(10;1.47e-12)		662			ABC transporter 1.		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.1984G>C	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.863525	0.32884	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	T;T	0.41400	1.0;1.0	5.41	3.29	0.37713	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.371129	0.21083	N	0.080444	T	0.39911	0.1096	N	0.13043	0.29	0.32214	N	0.576202	D;P	0.89917	1.0;0.944	D;P	0.78314	0.991;0.622	T	0.42498	-0.9448	10	0.33940	T	0.23	.	5.8631	0.18760	0.1551:0.6838:0.0:0.1611	.	662;662	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	Q	662;645;662;657	ENSP00000342216:E662Q;ENSP00000359767:E662Q	ENSP00000342216:E662Q	E	-	1	0	ABCA9	64534778	0.152000	0.22762	0.361000	0.25849	0.013000	0.08279	0.992000	0.29667	1.435000	0.47434	-0.143000	0.13931	GAG		0.423	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		35	103	0	0	0	1	0	35	103				
HNRNPDL	9987	broad.mit.edu	37	4	83348705	83348705	+	Nonsense_Mutation	SNP	C	C	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:83348705C>A	ENST00000295470.5	-	4	962	c.787G>T	c.(787-789)Gaa>Taa	p.E263*	HNRNPDL_ENST00000502762.1_Nonsense_Mutation_p.E263*|HNRNPDL_ENST00000602300.1_Nonsense_Mutation_p.E144*|HNRNPDL_ENST00000514511.1_5'UTR|HNRNPDL_ENST00000349655.4_Nonsense_Mutation_p.E144*	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1	O14979	HNRDL_HUMAN	heterogeneous nuclear ribonucleoprotein D-like	263	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|single-stranded DNA binding (GO:0003697)										ATGGGAAGTTCAATATTTTCA	0.348																																						ENST00000295470.5																			0											c.(787-789)Gaa>Taa		heterogeneous nuclear ribonucleoprotein D-like							70.0	67.0	68.0					4																	83348705		2203	4300	6503	SO:0001587	stop_gained	9987							g.chr4:83348705C>A	D89092	CCDS3593.1, CCDS75153.1	4q21.22	2013-06-12		2013-06-12	ENSG00000152795	ENSG00000152795		"""RNA binding motif (RRM) containing"""	5037	protein-coding gene	gene with protein product		607137		HNRPDL		10072754, 9524220	Standard	NM_001207000		Approved	JKTBP, laAUF1	uc003hmr.3	O14979	OTTHUMG00000130299	ENST00000295470.5:c.787G>T	4.37:g.83348705C>A	ENSP00000295470:p.Glu263*					HNRNPDL_ENST00000514511.1_5'UTR|HNRNPDL_ENST00000602300.1_Nonsense_Mutation_p.E144*|HNRNPDL_ENST00000502762.1_Nonsense_Mutation_p.E263*|HNRNPDL_ENST00000349655.4_Nonsense_Mutation_p.E144*	p.E263*	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1					4	962	-								Q6SPF2|Q7KZ74|Q7KZ75|Q96IM0|Q96S43	Nonsense_Mutation	SNP	ENST00000295470.5	37	c.787G>T	CCDS3593.1	.	.	.	.	.	.	.	.	.	.	c	43	9.990495	0.99312	.	.	ENSG00000152795	ENST00000295470;ENST00000502762;ENST00000349655	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	20.0471	0.97613	0.0:1.0:0.0:0.0	.	.	.	.	X	263;263;144	.	ENSP00000295470:E263X	E	-	1	0	HNRPDL	83567729	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.474000	0.81024	2.815000	0.96918	0.561000	0.74099	GAA		0.348	HNRNPDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252644.1	NM_005463		11	23	1	0	1.08611e-07	1	1.1074e-07	11	23				
MED13	9969	broad.mit.edu	37	17	60061627	60061627	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr17:60061627G>C	ENST00000397786.2	-	15	2869	c.2793C>G	c.(2791-2793)atC>atG	p.I931M		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	931					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CTGGCAATTTGATAGGGGGCA	0.398																																						ENST00000397786.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(2791-2793)atC>atG		mediator complex subunit 13							104.0	96.0	98.0					17																	60061627		1824	4084	5908	SO:0001583	missense	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60061627G>C	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.2793C>G	17.37:g.60061627G>C	ENSP00000380888:p.Ile931Met						p.I931M	NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN			15	2869	-			931					B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	c.2793C>G	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.238263	0.58886	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.77620	-1.11	5.83	4.84	0.62591	.	0.045475	0.85682	D	0.000000	D	0.84061	0.5389	M	0.70275	2.135	0.58432	D	0.999993	D	0.71674	0.998	P	0.61940	0.896	D	0.84683	0.0718	10	0.59425	D	0.04	-9.5812	9.5608	0.39369	0.0706:0.0:0.7862:0.1432	.	931	Q9UHV7	MED13_HUMAN	M	931;930	ENSP00000380888:I931M	ENSP00000262436:I930M	I	-	3	3	MED13	57416409	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.853000	0.48317	1.421000	0.47157	0.655000	0.94253	ATC		0.398	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		16	122	0	0	0	1	0	16	122				
AGAP11	119385	broad.mit.edu	37	10	88768146	88768146	+	RNA	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr10:88768146G>A	ENST00000444431.1	+	0	2746				RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.10_ENST00000451760.1_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)										AAAAGAAATGGAGGTGGGAGT	0.473																																						ENST00000444431.1																			0													ankyrin repeat and GTPase domain Arf GTPase activating protein 11							115.0	112.0	113.0					10																	88768146		2071	4241	6312			119385				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:88768146G>A			10q23.2	2013-01-11			ENSG00000151303	ENSG00000151303		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	29421	protein-coding gene	gene with protein product						11853319	Standard	NM_133447		Approved	KIAA1975	uc001kee.2	Q8TF27	OTTHUMG00000018667		10.37:g.88768146G>A						RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA				Q8TF27	AGA11_HUMAN			0	2746	+								B9EIP7|D3DWE4	RNA	SNP	ENST00000444431.1	37																																																																																						0.473	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000049193.1	NM_133447		45	81	0	0	0	1	0	45	81				
C1S	716	broad.mit.edu	37	12	7174976	7174976	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:7174976G>A	ENST00000406697.1	+	13	1724	c.1096G>A	c.(1096-1098)Gag>Aag	p.E366K	C1S_ENST00000402681.3_Missense_Mutation_p.E199K|C1S_ENST00000495061.1_3'UTR|C1S_ENST00000360817.5_Missense_Mutation_p.E366K|C1S_ENST00000328916.3_Missense_Mutation_p.E366K			P09871	C1S_HUMAN	complement component 1, s subcomponent	366	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TGAATCCATTGAGAATGGTAA	0.502																																					GBM(156;750 1943 12971 24779 31015)	ENST00000406697.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(1096-1098)Gag>Aag		complement component 1, s subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)						263.0	242.0	249.0					12																	7174976		2203	4300	6503	SO:0001583	missense	716				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7174976G>A		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"""Complement system"""	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.1096G>A	12.37:g.7174976G>A	ENSP00000385035:p.Glu366Lys					C1S_ENST00000360817.5_Missense_Mutation_p.E366K|C1S_ENST00000402681.3_Missense_Mutation_p.E199K|C1S_ENST00000328916.3_Missense_Mutation_p.E366K|C1S_ENST00000495061.1_3'UTR	p.E366K			P09871	C1S_HUMAN			13	1724	+			366			Sushi 2.		D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Missense_Mutation	SNP	ENST00000406697.1	37	c.1096G>A	CCDS31735.1	.	.	.	.	.	.	.	.	.	.	G	10.96	1.499321	0.26861	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000402681	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	5.67	-4.08	0.03963	Complement control module (2);Sushi/SCR/CCP (3);	1.917920	0.02783	N	0.121188	T	0.50786	0.1636	L	0.42245	1.32	0.09310	N	0.999996	B	0.06786	0.001	B	0.08055	0.003	T	0.46456	-0.9190	10	0.06625	T	0.88	.	13.1705	0.59595	0.2782:0.2217:0.5001:0.0	.	366	P09871	C1S_HUMAN	K	366;366;366;354;199	ENSP00000385035:E366K;ENSP00000328173:E366K;ENSP00000354057:E366K;ENSP00000384171:E199K	ENSP00000328173:E366K	E	+	1	0	C1S	7045237	0.001000	0.12720	0.005000	0.12908	0.002000	0.02628	-0.442000	0.06871	-0.554000	0.06150	-1.114000	0.02060	GAG		0.502	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734		137	209	0	0	0	1	0	137	209				
WNT2	7472	broad.mit.edu	37	7	116962987	116962987	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr7:116962987G>A	ENST00000265441.3	-	1	356	c.57C>T	c.(55-57)ctC>ctT	p.L19L	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	19					atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CCTCGGGGGTGAGCCAGGTCA	0.607																																						ENST00000265441.3																			0				breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31						c.(55-57)ctC>ctT		wingless-type MMTV integration site family member 2							85.0	83.0	84.0					7																	116962987		2203	4300	6503	SO:0001819	synonymous_variant	7472				atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity	g.chr7:116962987G>A	X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12780	protein-coding gene	gene with protein product	"""secreted growth factor"""	147870		INT1L1		2971536	Standard	NM_003391		Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.57C>T	7.37:g.116962987G>A							p.L19L	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	1	356	-	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		19					A4D0V1|Q75N05|Q9UDP9	Silent	SNP	ENST00000265441.3	37	c.57C>T	CCDS5771.1																																																																																				0.607	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059749.3	NM_003391		33	52	0	0	0	1	0	33	52				
SCFD2	152579	broad.mit.edu	37	4	54218834	54218834	+	Missense_Mutation	SNP	G	G	A	rs147606542	byFrequency	TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:54218834G>A	ENST00000401642.3	-	2	1071	c.938C>T	c.(937-939)gCg>gTg	p.A313V	SCFD2_ENST00000388940.4_Missense_Mutation_p.A313V	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	313					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)			p.A313V(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TGCAGTGAGCGCTATCATGTT	0.428													G|||	64	0.0127796	0.0008	0.0	5008	,	,		19473	0.0		0.001	False		,,,				2504	0.0634					ENST00000401642.3																			1	Substitution - Missense(1)	p.A313V(1)	pancreas(1)	breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(937-939)gCg>gTg		sec1 family domain containing 2		G	VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	182.0	157.0	166.0		938	4.2	0.9	4	dbSNP_134	166	21,8579	16.0+/-53.3	0,21,4279	yes	missense	SCFD2	NM_152540.3	64	0,23,6480	AA,AG,GG		0.2442,0.0454,0.1768	benign	313/685	54218834	23,12983	2203	4300	6503	SO:0001583	missense	152579				protein transport|vesicle docking involved in exocytosis			g.chr4:54218834G>A	AY299407	CCDS33984.1	4q12	2004-01-15			ENSG00000184178	ENSG00000184178			30676	protein-coding gene	gene with protein product						12477932	Standard	NM_152540		Approved	STXBP1L1, FLJ39514	uc003gzu.3	Q8WU76	OTTHUMG00000160588	ENST00000401642.3:c.938C>T	4.37:g.54218834G>A	ENSP00000384182:p.Ala313Val					SCFD2_ENST00000388940.4_Missense_Mutation_p.A313V	p.A313V	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)		2	1071	-			313					Q8N5F3|Q8N8H0|Q96ED3	Missense_Mutation	SNP	ENST00000401642.3	37	c.938C>T	CCDS33984.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	9.740	1.164726	0.21538	4.54E-4	0.002442	ENSG00000184178	ENST00000401642;ENST00000388940;ENST00000503450	D;D	0.85629	-2.01;-2.01	5.33	4.15	0.48705	.	0.060828	0.64402	D	0.000005	T	0.70081	0.3183	N	0.08118	0	0.21553	N	0.999646	B;B	0.13594	0.008;0.005	B;B	0.12837	0.008;0.003	T	0.56890	-0.7904	10	0.30078	T	0.28	.	11.6001	0.50997	0.0:0.0:0.1497:0.8503	.	313;313	Q8WU76-2;Q8WU76	.;SCFD2_HUMAN	V	313;313;6	ENSP00000384182:A313V;ENSP00000373592:A313V	ENSP00000373592:A313V	A	-	2	0	SCFD2	53913591	0.999000	0.42202	0.921000	0.36526	0.006000	0.05464	3.548000	0.53670	0.849000	0.35215	-0.357000	0.07601	GCG		0.428	SCFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361311.3	NM_152540		24	40	0	0	0	1	0	24	40				
TPD52L2	7165	broad.mit.edu	37	20	62505152	62505152	+	Silent	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr20:62505152C>T	ENST00000346249.4	+	3	373	c.297C>T	c.(295-297)gaC>gaT	p.D99D	TPD52L2_ENST00000348257.5_Silent_p.D99D|TPD52L2_ENST00000369927.4_Silent_p.D76D|TPD52L2_ENST00000358548.4_Silent_p.D99D|TPD52L2_ENST00000351424.4_Silent_p.D99D|TPD52L2_ENST00000217121.5_Silent_p.D99D|TPD52L2_ENST00000352482.4_Silent_p.D99D	NM_001243891.1|NM_003288.3	NP_001230820.1|NP_003279.2	O43399	TPD54_HUMAN	tumor protein D52-like 2	99					regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.D99D(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					GCTGGCATGACGTGCAGGTCT	0.662																																						ENST00000217121.5																			1	Substitution - coding silent(1)	p.D99D(1)	large_intestine(1)	endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(295-297)gaC>gaT		tumor protein D52-like 2							35.0	34.0	35.0					20																	62505152		2201	4297	6498	SO:0001819	synonymous_variant	7165				regulation of cell proliferation	perinuclear region of cytoplasm	protein binding|protein homodimerization activity	g.chr20:62505152C>T	AF004430	CCDS13540.1, CCDS13541.1, CCDS13542.1, CCDS13543.1, CCDS13544.1, CCDS13545.1, CCDS58785.1, CCDS74752.1, CCDS74753.1	20q13.2-q13.3	2007-12-19			ENSG00000101150	ENSG00000101150			12007	protein-coding gene	gene with protein product		603747				9484778	Standard	NM_199360		Approved	D54, hD54	uc002ygy.3	O43399	OTTHUMG00000033009	ENST00000346249.4:c.297C>T	20.37:g.62505152C>T						TPD52L2_ENST00000351424.4_Silent_p.D99D|TPD52L2_ENST00000346249.4_Silent_p.D99D|TPD52L2_ENST00000348257.5_Silent_p.D99D|TPD52L2_ENST00000369927.4_Silent_p.D76D|TPD52L2_ENST00000358548.4_Silent_p.D99D|TPD52L2_ENST00000352482.4_Silent_p.D99D	p.D99D	NM_199360.2	NP_955392.1	O43399	TPD54_HUMAN			3	369	+	all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)		99					B4DPJ6|E1P5G7|O43398|Q5JWU5|Q5JWU6|Q5JWU8|Q5U0E0|Q9H3Z6	Silent	SNP	ENST00000346249.4	37	c.297C>T	CCDS13540.1																																																																																				0.662	TPD52L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080248.1			4	17	0	0	0	1	0	4	17				
HELB	92797	broad.mit.edu	37	12	66712489	66712489	+	Nonsense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:66712489C>G	ENST00000247815.4	+	7	2131	c.2072C>G	c.(2071-2073)tCa>tGa	p.S691*		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	691					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		TTACCCATCTCAATTCAAGAT	0.338																																						ENST00000247815.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40						c.(2071-2073)tCa>tGa		helicase (DNA) B							141.0	147.0	145.0					12																	66712489		2203	4299	6502	SO:0001587	stop_gained	92797				DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	g.chr12:66712489C>G	AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.2072C>G	12.37:g.66712489C>G	ENSP00000247815:p.Ser691*						p.S691*	NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)	7	2131	+			691					A8K4C9|Q4G0T2|Q9H7L5	Nonsense_Mutation	SNP	ENST00000247815.4	37	c.2072C>G	CCDS8976.1	.	.	.	.	.	.	.	.	.	.	C	39	7.599994	0.98381	.	.	ENSG00000127311	ENST00000247815	.	.	.	5.26	5.26	0.73747	.	0.121365	0.35805	N	0.002967	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-16.8528	19.2584	0.93957	0.0:1.0:0.0:0.0	.	.	.	.	X	691	.	.	S	+	2	0	HELB	64998756	1.000000	0.71417	0.966000	0.40874	0.913000	0.54294	4.843000	0.62838	2.640000	0.89533	0.655000	0.94253	TCA		0.338	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1			31	51	0	0	0	1	0	31	51				
SBNO1	55206	broad.mit.edu	37	12	123832659	123832659	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:123832659C>T	ENST00000602398.1	-	3	281	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K	Y_RNA_ENST00000384460.1_RNA|SBNO1_ENST00000267176.4_Missense_Mutation_p.E52K|SBNO1_ENST00000602750.1_Missense_Mutation_p.E52K|SBNO1_ENST00000420886.2_Missense_Mutation_p.E52K			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	52					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		AAACCTAGTTCTAATGCACTA	0.383																																						ENST00000420886.2																			0				NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62						c.(154-156)Gaa>Aaa		strawberry notch homolog 1 (Drosophila)							112.0	93.0	100.0					12																	123832659		2203	4300	6503	SO:0001583	missense	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123832659C>T	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.154G>A	12.37:g.123832659C>T	ENSP00000473665:p.Glu52Lys					SBNO1_ENST00000267176.4_Missense_Mutation_p.E52K|SBNO1_ENST00000602750.1_Missense_Mutation_p.E52K|SBNO1_ENST00000602398.1_Missense_Mutation_p.E52K	p.E52K	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	2	153	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		52					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	c.154G>A	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.837412	0.71373	.	.	ENSG00000139697	ENST00000420886;ENST00000267176;ENST00000442601	T;T	0.32023	1.47;1.47	6.17	6.17	0.99709	.	0.132782	0.52532	D	0.000073	T	0.20170	0.0485	N	0.14661	0.345	0.38666	D	0.952182	B;B	0.25609	0.079;0.13	B;B	0.21917	0.017;0.037	T	0.10823	-1.0613	10	0.08179	T	0.78	-35.6279	19.8676	0.96824	0.0:1.0:0.0:0.0	.	52;52	A3KN83;A3KN83-2	SBNO1_HUMAN;.	K	52	ENSP00000387361:E52K;ENSP00000267176:E52K	ENSP00000267176:E52K	E	-	1	0	SBNO1	122398612	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.467000	0.66737	2.941000	0.99782	0.655000	0.94253	GAA		0.383	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		13	14	0	0	0	1	0	13	14				
RENBP	5973	broad.mit.edu	37	X	153207040	153207040	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chrX:153207040C>G	ENST00000393700.3	-	8	916	c.836G>C	c.(835-837)cGa>cCa	p.R279P	RENBP_ENST00000462086.1_5'Flank|RENBP_ENST00000369997.3_Missense_Mutation_p.R265P|RENBP_ENST00000412763.1_Missense_Mutation_p.E252Q	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	279					N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)|regulation of blood pressure (GO:0008217)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|endopeptidase inhibitor activity (GO:0004866)|N-acylglucosamine 2-epimerase activity (GO:0050121)			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	CACGTGGGCTCGAAGTTCGGG	0.592																																						ENST00000412763.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(754-756)Gag>Cag		renin binding protein	N-Acetyl-D-glucosamine(DB00141)						106.0	90.0	95.0					X																	153207040		2203	4300	6503	SO:0001583	missense	5973				mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity	g.chrX:153207040C>G		CCDS14738.2	Xq28	2013-09-23	2001-11-28		ENSG00000102032	ENSG00000102032			9959	protein-coding gene	gene with protein product	"""N-acylglucosamine 2-epimerase"", ""GlcNAc 2-epimerase"", ""N-acetyl-D-glucosamine 2-epimerase"""	312420	"""renin-binding protein"""			1618798	Standard	NM_002910		Approved	RNBP, RBP	uc004fjo.2	P51606	OTTHUMG00000024224	ENST00000393700.3:c.836G>C	X.37:g.153207040C>G	ENSP00000377303:p.Arg279Pro					RENBP_ENST00000369997.3_Missense_Mutation_p.R265P|RENBP_ENST00000393700.3_Missense_Mutation_p.R279P	p.E252Q			P51606	RENBP_HUMAN			7	923	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		0					B4DNZ3|Q96BI6	Missense_Mutation	SNP	ENST00000393700.3	37	c.754G>C	CCDS14738.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.59|11.59	1.684519|1.684519	0.29872|0.29872	.|.	.|.	ENSG00000102032|ENSG00000102032	ENST00000412763|ENST00000393700;ENST00000369997	T|T;T	0.51574|0.29142	0.7|1.58;1.58	5.15|5.15	2.98|2.98	0.34508|0.34508	.|Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);	.|0.421246	.|0.24347	.|N	.|0.039310	T|T	0.48447|0.48447	0.1500|0.1500	M|M	0.78637|0.78637	2.42|2.42	0.09310|0.09310	N|N	1|1	P|D	0.35844|0.60575	0.524|0.988	B|P	0.32624|0.61132	0.149|0.884	T|T	0.37572|0.37572	-0.9700|-0.9700	9|10	0.38643|0.28530	T|T	0.18|0.3	-3.1835|-3.1835	11.2481|11.2481	0.49008|0.49008	0.0:0.8059:0.0:0.1941|0.0:0.8059:0.0:0.1941	.|.	252|279	P51606-2|P51606	.|RENBP_HUMAN	Q|P	252|279;265	ENSP00000387811:E252Q|ENSP00000377303:R279P;ENSP00000359014:R265P	ENSP00000387811:E252Q|ENSP00000359014:R265P	E|R	-|-	1|2	0|0	RENBP|RENBP	152860234|152860234	0.000000|0.000000	0.05858|0.05858	0.006000|0.006000	0.13384|0.13384	0.057000|0.057000	0.15508|0.15508	0.021000|0.021000	0.13489|0.13489	0.933000|0.933000	0.37291|0.37291	0.436000|0.436000	0.28706|0.28706	GAG|CGA		0.592	RENBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061103.3	NM_002910		46	56	0	0	0	1	0	46	56				
MUC5B	727897	broad.mit.edu	37	11	1275410	1275410	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:1275410G>A	ENST00000529681.1	+	34	15364	c.15306G>A	c.(15304-15306)atG>atA	p.M5102I	MUC5B_ENST00000447027.1_Missense_Mutation_p.M5105I	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5102	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				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)		ATGTCCTCATGAGAGAGATCC	0.627																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(15313-15315)atG>atA		mucin 5B, oligomeric mucus/gel-forming							66.0	79.0	74.0					11																	1275410		2149	4269	6418	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1275410G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.15306G>A	11.37:g.1275410G>A	ENSP00000436812:p.Met5102Ile					MUC5B_ENST00000529681.1_Missense_Mutation_p.M5102I	p.M5105I			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	34	15373	+		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)	5102			VWFD 4.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.15315G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	10.72	1.430161	0.25726	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000546052;ENST00000406844	T;T	0.59502	0.26;0.26	4.5	2.45	0.29901	.	.	.	.	.	T	0.54951	0.1890	L	0.61218	1.895	0.09310	N	0.999999	P;P	0.38978	0.652;0.652	B;B	0.40940	0.344;0.344	T	0.53158	-0.8478	9	0.87932	D	0	.	8.1062	0.30887	0.0928:0.0:0.7457:0.1615	.	5437;5105	A7Y9J9;E9PBJ0	.;.	I	5102;5105;5046;1;4814	ENSP00000436812:M5102I;ENSP00000415793:M5105I	ENSP00000343037:M5046I	M	+	3	0	MUC5B	1231986	0.998000	0.40836	0.032000	0.17829	0.085000	0.17905	2.906000	0.48735	2.219000	0.72066	0.400000	0.26472	ATG		0.627	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		16	71	0	0	0	1	0	16	71				
FMNL2	114793	broad.mit.edu	37	2	153482074	153482074	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:153482074G>C	ENST00000475377.2	+	3	285	c.85G>C	c.(85-87)Gag>Cag	p.E29Q	FMNL2_ENST00000497192.1_3'UTR|FMNL2_ENST00000288670.9_Missense_Mutation_p.E654Q			Q96PY5	FMNL2_HUMAN	formin-like 2	654	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						GCGAATTCTGGAGGTATTTTT	0.438																																						ENST00000288670.9																			0				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						c.(1960-1962)Gag>Cag		formin-like 2							110.0	103.0	105.0					2																	153482074		1848	4092	5940	SO:0001583	missense	114793				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding	g.chr2:153482074G>C	AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"""formin homology 2 domain containing 2"""	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000475377.2:c.85G>C	2.37:g.153482074G>C	ENSP00000418959:p.Glu29Gln					FMNL2_ENST00000497192.1_3'UTR|FMNL2_ENST00000475377.2_Missense_Mutation_p.E29Q	p.E654Q	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN			16	2327	+			654			FH2.		B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Missense_Mutation	SNP	ENST00000475377.2	37	c.1960G>C		.	.	.	.	.	.	.	.	.	.	G	13.32	2.201959	0.38905	.	.	ENSG00000157827	ENST00000288670;ENST00000421344;ENST00000475377	T;T	0.17213	2.29;2.29	6.17	6.17	0.99709	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.23410	0.0566	N	0.05592	-0.015	0.80722	D	1	D;B;B	0.69078	0.997;0.06;0.02	D;B;B	0.81914	0.995;0.048;0.022	T	0.20075	-1.0286	10	0.11794	T	0.64	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	654;135;654	Q96PY5;Q6ZN96;Q96PY5-3	FMNL2_HUMAN;.;.	Q	654;135;29	ENSP00000288670:E654Q;ENSP00000418959:E29Q	ENSP00000288670:E654Q	E	+	1	0	FMNL2	153190320	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GAG		0.438	FMNL2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000333583.3	NM_052905		23	37	0	0	0	1	0	23	37				
TRRAP	8295	broad.mit.edu	37	7	98579528	98579528	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr7:98579528G>A	ENST00000359863.4	+	58	8959	c.8750G>A	c.(8749-8751)cGc>cAc	p.R2917H	TRRAP_ENST00000355540.3_Missense_Mutation_p.R2899H|TRRAP_ENST00000446306.3_Missense_Mutation_p.R2899H	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2917	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTGGCCATCCGCGAGTGGCGG	0.677																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(8749-8751)cGc>cAc		transformation/transcription domain-associated protein							14.0	15.0	15.0					7																	98579528		2190	4257	6447	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98579528G>A	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.8750G>A	7.37:g.98579528G>A	ENSP00000352925:p.Arg2917His					TRRAP_ENST00000355540.3_Missense_Mutation_p.R2899H|TRRAP_ENST00000446306.3_Missense_Mutation_p.R2899H	p.R2917H	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		58	8959	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		2917			FAT.		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.8750G>A	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.535006|5.535006	0.96460|0.96460	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000456197|ENST00000359863;ENST00000355540;ENST00000446306	.|T;T	.|0.70399	.|-0.48;-0.48	5.46|5.46	5.46|5.46	0.80206|0.80206	.|PIK-related kinase (1);PIK-related kinase, FAT (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.81465|0.81465	0.4828|0.4828	L|L	0.58969|0.58969	1.84|1.84	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.999;0.995;0.998	.|D;P;D	.|0.64237	.|0.923;0.88;0.916	T|T	0.81784|0.81784	-0.0774|-0.0774	5|10	.|0.54805	.|T	.|0.06	.|.	19.3216|19.3216	0.94243|0.94243	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|2899;2638;2917	.|Q9Y4A5-2;Q59FH1;Q9Y4A5	.|.;.;TRRAP_HUMAN	T|H	2639|2917;2899;2898	.|ENSP00000352925:R2917H;ENSP00000347733:R2899H	.|ENSP00000347733:R2899H	A|R	+|+	1|2	0|0	TRRAP|TRRAP	98417464|98417464	1.000000|1.000000	0.71417|0.71417	0.953000|0.953000	0.39169|0.39169	0.931000|0.931000	0.56810|0.56810	9.869000|9.869000	0.99810|0.99810	2.573000|2.573000	0.86826|0.86826	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.677	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		5	15	0	0	0	1	0	5	15				
PTPDC1	138639	broad.mit.edu	37	9	96847541	96847541	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:96847541G>C	ENST00000375360.3	+	3	431	c.91G>C	c.(91-93)Gaa>Caa	p.E31Q	PTPDC1_ENST00000288976.3_Missense_Mutation_p.E83Q	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	31					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						AGGAAATTTAGAACGTCCAAC	0.413																																						ENST00000375360.3																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(91-93)Gaa>Caa		protein tyrosine phosphatase domain containing 1							81.0	73.0	76.0					9																	96847541		2203	4300	6503	SO:0001583	missense	138639						protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr9:96847541G>C	BC051654	CCDS6707.1, CCDS6708.1, CCDS75860.1	9q22.32	2011-06-09			ENSG00000158079	ENSG00000158079		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	30184	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase PTP9Q22"""					14702039	Standard	NM_152422		Approved	PTP9Q22, FLJ37312	uc010mrj.2	A2A3K4	OTTHUMG00000020258	ENST00000375360.3:c.91G>C	9.37:g.96847541G>C	ENSP00000364509:p.Glu31Gln					PTPDC1_ENST00000288976.3_Missense_Mutation_p.E83Q	p.E31Q	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN			3	431	+			31					Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Missense_Mutation	SNP	ENST00000375360.3	37	c.91G>C	CCDS6707.1	.	.	.	.	.	.	.	.	.	.	.	8.246	0.807826	0.16467	.	.	ENSG00000158079	ENST00000375360;ENST00000288976	T;T	0.11821	2.76;2.74	5.51	3.3	0.37823	.	0.186391	0.42964	D	0.000633	T	0.07818	0.0196	L	0.34521	1.04	0.25453	N	0.987987	B;B;B;B	0.33694	0.121;0.095;0.421;0.121	B;B;B;B	0.21917	0.023;0.037;0.035;0.023	T	0.23904	-1.0175	10	0.45353	T	0.12	-8.6836	5.1232	0.14871	0.3132:0.0:0.6868:0.0	.	85;83;85;31	E7EN59;A2A3K4-2;A8K0X7;A2A3K4	.;.;.;PTPC1_HUMAN	Q	31;83	ENSP00000364509:E31Q;ENSP00000288976:E83Q	ENSP00000288976:E83Q	E	+	1	0	PTPDC1	95887362	0.678000	0.27586	0.980000	0.43619	0.496000	0.33645	1.127000	0.31357	1.479000	0.48272	0.591000	0.81541	GAA		0.413	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215007.1	NM_177995, NM_152422		4	63	0	0	0	1	0	4	63				
GYS1	2997	broad.mit.edu	37	19	49489281	49489281	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:49489281C>G	ENST00000323798.3	-	4	700	c.504G>C	c.(502-504)caG>caC	p.Q168H	GYS1_ENST00000457974.1_5'Flank|GYS1_ENST00000263276.6_Missense_Mutation_p.Q104H|GYS1_ENST00000540532.1_Missense_Mutation_p.Q88H|GYS1_ENST00000544287.1_Intron|GYS1_ENST00000541188.1_Missense_Mutation_p.Q88H	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	168					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|heart development (GO:0007507)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|inclusion body (GO:0016234)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		TCTCCTCACTCTGTGCCAGGA	0.587																																						ENST00000323798.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(502-504)caG>caC		glycogen synthase 1 (muscle)							57.0	47.0	50.0					19																	49489281		2203	4300	6503	SO:0001583	missense	2997				glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding	g.chr19:49489281C>G		CCDS12747.1, CCDS54292.1	19q13.3	2013-02-22			ENSG00000104812	ENSG00000104812	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4706	protein-coding gene	gene with protein product		138570		GYS			Standard	NM_002103		Approved	GSY	uc002plp.3	P13807	OTTHUMG00000150723	ENST00000323798.3:c.504G>C	19.37:g.49489281C>G	ENSP00000317904:p.Gln168His					GYS1_ENST00000544287.1_Intron|GYS1_ENST00000540532.1_Missense_Mutation_p.Q88H|GYS1_ENST00000541188.1_Missense_Mutation_p.Q88H|GYS1_ENST00000263276.6_Missense_Mutation_p.Q104H	p.Q168H	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)	4	700	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)	168					Q9BTT9	Missense_Mutation	SNP	ENST00000323798.3	37	c.504G>C	CCDS12747.1	.	.	.	.	.	.	.	.	.	.	C	5.689	0.311630	0.10789	.	.	ENSG00000104812	ENST00000323798;ENST00000263276;ENST00000541188;ENST00000540532	T;T;T;T	0.75704	-0.94;-0.96;-0.94;-0.94	3.86	3.86	0.44501	.	0.351400	0.30620	N	0.009234	T	0.65923	0.2738	N	0.11756	0.17	0.53005	D	0.999965	B;D;B	0.56287	0.01;0.975;0.01	B;P;B	0.58077	0.026;0.832;0.026	T	0.62732	-0.6792	10	0.27785	T	0.31	-22.3218	8.0494	0.30568	0.0:0.8833:0.0:0.1167	.	88;104;168	B7Z806;Q9BTT9;P13807	.;.;GYS1_HUMAN	H	168;104;88;88	ENSP00000317904:Q168H;ENSP00000263276:Q104H;ENSP00000437922:Q88H;ENSP00000445197:Q88H	ENSP00000263276:Q104H	Q	-	3	2	GYS1	54181093	1.000000	0.71417	0.997000	0.53966	0.490000	0.33462	2.052000	0.41316	2.100000	0.63781	0.400000	0.26472	CAG		0.587	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319791.1	NM_002103		13	40	0	0	0	1	0	13	40				
RNASET2	8635	broad.mit.edu	37	6	167343147	167343147	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr6:167343147C>T	ENST00000508775.1	-	9	1219	c.700G>A	c.(700-702)Gag>Aag	p.E234K	RNASET2_ENST00000366855.6_Missense_Mutation_p.E196K|RP11-514O12.4_ENST00000507747.1_Intron|RNASET2_ENST00000476238.2_Missense_Mutation_p.E234K	NM_003730.4	NP_003721.2	O00584	RNT2_HUMAN	ribonuclease T2	234					RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	ribonuclease activity (GO:0004540)|ribonuclease T2 activity (GO:0033897)|RNA binding (GO:0003723)			large_intestine(4)|lung(4)	8		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665)		CCCCGGCTCTCGGCGGCCCCA	0.552																																						ENST00000366855.6																			0				large_intestine(4)|lung(4)	8						c.(586-588)Gag>Aag		ribonuclease T2							129.0	153.0	145.0					6																	167343147		2203	4300	6503	SO:0001583	missense	8635				RNA catabolic process	extracellular region	ribonuclease T2 activity|RNA binding	g.chr6:167343147C>T	AJ419866	CCDS5295.1	6q27	2014-05-20			ENSG00000026297	ENSG00000026297			21686	protein-coding gene	gene with protein product		612944				9192857	Standard	NM_003730		Approved	RNASE6PL, FLJ10907, bA514O12.3	uc003qve.3	O00584	OTTHUMG00000016009	ENST00000508775.1:c.700G>A	6.37:g.167343147C>T	ENSP00000426455:p.Glu234Lys					RNASET2_ENST00000508775.1_Missense_Mutation_p.E234K|RNASET2_ENST00000476238.2_Missense_Mutation_p.E234K|RP11-514O12.4_ENST00000507747.1_Intron	p.E196K			O00584	RNT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665)	10	1261	-		Breast(66;1.53e-05)|Ovarian(120;0.0606)	234					B2RDA7|E1P5C3|Q5T8Q0|Q8TCU2|Q9BZ46|Q9BZ47	Missense_Mutation	SNP	ENST00000508775.1	37	c.586G>A	CCDS5295.1	.	.	.	.	.	.	.	.	.	.	C	1.378	-0.584283	0.03827	.	.	ENSG00000026297	ENST00000366855;ENST00000508775;ENST00000428859;ENST00000476238;ENST00000478180	T;T;T;T	0.62498	0.03;0.02;0.02;0.02	4.3	-4.0	0.04057	.	2.556590	0.01883	N	0.037961	T	0.13030	0.0316	N	0.19112	0.55	0.09310	N	1	B;B	0.20164	0.042;0.001	B;B	0.09377	0.004;0.001	T	0.04579	-1.0941	10	0.05959	T	0.93	-19.5286	1.6522	0.02774	0.1477:0.2969:0.1236:0.4318	.	284;234	C9JIU8;O00584	.;RNT2_HUMAN	K	196;234;284;234;234	ENSP00000424947:E196K;ENSP00000426455:E234K;ENSP00000422846:E234K;ENSP00000426059:E234K	ENSP00000424947:E196K	E	-	1	0	RNASET2	167263137	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.452000	0.01005	-0.769000	0.04620	-0.878000	0.02970	GAG		0.552	RNASET2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043089.2	NM_003730		108	326	0	0	0	1	0	108	326				
SLC35A5	55032	broad.mit.edu	37	3	112299571	112299571	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr3:112299571G>C	ENST00000492406.1	+	6	890	c.607G>C	c.(607-609)Gac>Cac	p.D203H	SLC35A5_ENST00000460713.1_3'UTR	NM_017945.2	NP_060415.1	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	203					nucleotide-sugar transport (GO:0015780)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	nucleotide-sugar transmembrane transporter activity (GO:0005338)|sugar:proton symporter activity (GO:0005351)			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						TCCCAGAAAAGACAATTGTAC	0.448																																						ENST00000492406.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						c.(607-609)Gac>Cac		solute carrier family 35, member A5							128.0	124.0	125.0					3																	112299571		2203	4300	6503	SO:0001583	missense	55032					Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity	g.chr3:112299571G>C	AK000737	CCDS2967.1	3q13.13	2013-05-22			ENSG00000138459	ENSG00000138459		"""Solute carriers"""	20792	protein-coding gene	gene with protein product							Standard	NM_017945		Approved	FLJ20730	uc003dze.4	Q9BS91	OTTHUMG00000159263	ENST00000492406.1:c.607G>C	3.37:g.112299571G>C	ENSP00000417654:p.Asp203His					SLC35A5_ENST00000460713.1_3'UTR	p.D203H	NM_017945.2	NP_060415.1	Q9BS91	S35A5_HUMAN			6	890	+			203					D3DN66|Q69YY6|Q6ZMD6|Q9NWM9	Missense_Mutation	SNP	ENST00000492406.1	37	c.607G>C	CCDS2967.1	.	.	.	.	.	.	.	.	.	.	G	11.30	1.598218	0.28445	.	.	ENSG00000138459	ENST00000492406	T	0.44482	0.92	5.76	3.94	0.45596	.	0.402027	0.30901	N	0.008647	T	0.44850	0.1313	L	0.59436	1.845	0.09310	N	1	P	0.37612	0.602	P	0.45377	0.478	T	0.30880	-0.9963	9	.	.	.	-4.3705	9.0629	0.36444	0.0777:0.1474:0.775:0.0	.	203	Q9BS91	S35A5_HUMAN	H	203	ENSP00000417654:D203H	.	D	+	1	0	SLC35A5	113782261	0.775000	0.28604	0.017000	0.16124	0.385000	0.30292	1.933000	0.40153	0.751000	0.32900	0.585000	0.79938	GAC		0.448	SLC35A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354184.1	NM_017945		49	110	0	0	0	1	0	49	110				
KIF21B	23046	broad.mit.edu	37	1	200943886	200943886	+	Silent	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr1:200943886G>A	ENST00000422435.2	-	34	5086	c.4770C>T	c.(4768-4770)atC>atT	p.I1590I	KIF21B_ENST00000360529.5_Silent_p.I1577I|KIF21B_ENST00000332129.2_Silent_p.I1577I|KIF21B_ENST00000461742.2_Silent_p.I1590I	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	1590					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						AGATGGCATTGATGGGACTGT	0.592																																						ENST00000332129.2																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						c.(4729-4731)atC>atT		kinesin family member 21B							295.0	243.0	260.0					1																	200943886		2203	4300	6503	SO:0001819	synonymous_variant	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200943886G>A	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.4770C>T	1.37:g.200943886G>A						KIF21B_ENST00000461742.2_Silent_p.I1590I|KIF21B_ENST00000422435.2_Silent_p.I1590I|KIF21B_ENST00000360529.5_Silent_p.I1577I	p.I1577I	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN			33	5047	-			1590					B2RP62|B7ZMI0|Q5T4J3	Silent	SNP	ENST00000422435.2	37	c.4731C>T	CCDS58056.1																																																																																				0.592	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		54	76	0	0	0	1	0	54	76				
EHF	26298	broad.mit.edu	37	11	34678466	34678466	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr11:34678466G>C	ENST00000533754.1	+	7	773	c.556G>C	c.(556-558)Gat>Cat	p.D186H	EHF_ENST00000257831.3_Missense_Mutation_p.D186H|EHF_ENST00000531794.1_Missense_Mutation_p.D208H|EHF_ENST00000450654.2_Missense_Mutation_p.D163H|EHF_ENST00000530286.1_Missense_Mutation_p.D186H					ets homologous factor										NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			AGAGTCACCTGATATGAAAAA	0.418																																						ENST00000257831.3																		NFIA/EHF(2)	0				autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17						c.(556-558)Gat>Cat		ets homologous factor							71.0	65.0	67.0					11																	34678466		2202	4298	6500	SO:0001583	missense	26298				cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:34678466G>C	AF170583	CCDS7894.1, CCDS55752.1, CCDS55753.1	11p12	2008-07-18				ENSG00000135373			3246	protein-coding gene	gene with protein product	"""epithelium-specific ets factor 3"", ""ESE3 transcription factor"""	605439				10527851	Standard	NM_012153		Approved	ESE3, ESEJ	uc021qfu.1	Q9NZC4		ENST00000533754.1:c.556G>C	11.37:g.34678466G>C	ENSP00000435837:p.Asp186His					EHF_ENST00000531794.1_Missense_Mutation_p.D208H|EHF_ENST00000530286.1_Missense_Mutation_p.D186H|EHF_ENST00000450654.2_Missense_Mutation_p.D163H|EHF_ENST00000533754.1_Missense_Mutation_p.D186H	p.D186H	NM_012153.5	NP_036285.2	Q9NZC4	EHF_HUMAN	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)		7	677	+		all_hematologic(20;0.117)	186						Missense_Mutation	SNP	ENST00000533754.1	37	c.556G>C	CCDS7894.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.551453	0.45487	.	.	ENSG00000135373	ENST00000257831;ENST00000450654;ENST00000530286;ENST00000533754;ENST00000529527;ENST00000531794	T;T;T;T;T;T	0.34667	3.15;2.85;3.15;3.15;1.35;3.13	5.71	5.71	0.89125	Winged helix-turn-helix transcription repressor DNA-binding (1);	1.073260	0.07215	N	0.859902	T	0.38799	0.1054	N	0.24115	0.695	0.80722	D	1	P;P;B	0.47409	0.895;0.527;0.314	P;B;B	0.45195	0.473;0.33;0.141	T	0.44620	-0.9316	10	0.44086	T	0.13	.	20.2469	0.98398	0.0:0.0:1.0:0.0	.	208;163;186	E9PSB2;Q9NZC4-2;Q9NZC4	.;.;EHF_HUMAN	H	186;163;186;186;163;208	ENSP00000257831:D186H;ENSP00000399733:D163H;ENSP00000433508:D186H;ENSP00000435837:D186H;ENSP00000432905:D163H;ENSP00000435835:D208H	ENSP00000257831:D186H	D	+	1	0	EHF	34635042	1.000000	0.71417	0.995000	0.50966	0.421000	0.31385	6.393000	0.73217	2.873000	0.98535	0.561000	0.74099	GAT		0.418	EHF-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389855.1	NM_012153		15	99	0	0	0	1	0	15	99				
ARHGEF4	50649	broad.mit.edu	37	2	131803007	131803007	+	Missense_Mutation	SNP	G	G	A	rs375298090		TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:131803007G>A	ENST00000326016.5	+	13	2428	c.1909G>A	c.(1909-1911)Ggg>Agg	p.G637R	ARHGEF4_ENST00000409303.1_Missense_Mutation_p.G577R|ARHGEF4_ENST00000392953.3_Missense_Mutation_p.G637R|ARHGEF4_ENST00000355771.3_Missense_Mutation_p.G566R|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.G637R	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	637					apoptotic signaling pathway (GO:0097190)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein domain specific binding (GO:0019904)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		GCAGGTCACAGGGAAGCCCAA	0.612																																						ENST00000392953.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29						c.(1909-1911)Ggg>Agg		Rho guanine nucleotide exchange factor (GEF) 4							74.0	62.0	66.0					2																	131803007		2203	4300	6503	SO:0001583	missense	50649				apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity	g.chr2:131803007G>A	AL137289	CCDS2165.1, CCDS42754.1	2q22	2013-01-10			ENSG00000136002	ENSG00000136002		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	684	protein-coding gene	gene with protein product	"""APC-stimulated guanine nucleotide exchange factor"""	605216				10873612	Standard	NM_015320		Approved	STM6, KIAA1112, ASEF	uc002tsa.1	Q9NR80	OTTHUMG00000131657	ENST00000326016.5:c.1909G>A	2.37:g.131803007G>A	ENSP00000316845:p.Gly637Arg					ARHGEF4_ENST00000409303.1_Missense_Mutation_p.G577R|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.G637R|ARHGEF4_ENST00000355771.3_Missense_Mutation_p.G566R|ARHGEF4_ENST00000326016.5_Missense_Mutation_p.G637R|ARHGEF4_ENST00000428230.2_Intron	p.G637R	NM_032995.1	NP_127462.1	Q9NR80	ARHG4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.097)	13	2428	+		Prostate(154;0.055)	637					Q9HDC6|Q9UPP0	Missense_Mutation	SNP	ENST00000326016.5	37	c.1909G>A	CCDS2165.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.3|21.3	4.126809|4.126809	0.77549|0.77549	.|.	.|.	ENSG00000136002|ENSG00000136002	ENST00000326016;ENST00000392953;ENST00000525839;ENST00000409303;ENST00000355771|ENST00000532720	T;T;T;T;T|.	0.70516|.	1.32;-0.49;-0.49;1.32;1.32|.	5.43|5.43	4.55|4.55	0.56014|0.56014	.|.	0.116612|.	0.56097|.	D|.	0.000025|.	T|T	0.60314|0.60314	0.2259|0.2259	L|L	0.49126|0.49126	1.545|1.545	0.53688|0.53688	D|D	0.999976|0.999976	D;P;D|.	0.54772|.	0.968;0.937;0.968|.	P;P;P|.	0.54346|.	0.749;0.731;0.661|.	T|T	0.57602|0.57602	-0.7783|-0.7783	10|5	0.35671|.	T|.	0.21|.	.|.	12.0623|12.0623	0.53568|0.53568	0.0845:0.0:0.9155:0.0|0.0845:0.0:0.9155:0.0	.|.	577;637;637|.	E9PEM0;Q9NR80-4;Q9NR80|.	.;.;ARHG4_HUMAN|.	R|K	637;637;637;577;566|253	ENSP00000316845:G637R;ENSP00000376680:G637R;ENSP00000432267:G637R;ENSP00000387285:G577R;ENSP00000348017:G566R|.	ENSP00000316845:G637R|.	G|R	+|+	1|2	0|0	ARHGEF4|ARHGEF4	131519477|131519477	1.000000|1.000000	0.71417|0.71417	0.615000|0.615000	0.29064|0.29064	0.919000|0.919000	0.55068|0.55068	5.858000|5.858000	0.69532|0.69532	1.283000|1.283000	0.44513|0.44513	0.462000|0.462000	0.41574|0.41574	GGG|AGG		0.612	ARHGEF4-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254554.4			51	65	0	0	0	1	0	51	65				
COL4A3	1285	broad.mit.edu	37	2	228176579	228176579	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr2:228176579G>C	ENST00000396578.3	+	52	5168	c.5006G>C	c.(5005-5007)aGa>aCa	p.R1669T	AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1669	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		ATGAAGAAAAGACACTGAAGC	0.328																																						ENST00000396578.3																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(5005-5007)aGa>aCa		collagen, type IV, alpha 3 (Goodpasture antigen)							80.0	79.0	79.0					2																	228176579		1846	4093	5939	SO:0001583	missense	1285				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	g.chr2:228176579G>C		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.5006G>C	2.37:g.228176579G>C	ENSP00000379823:p.Arg1669Thr					AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA	p.R1669T	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)	52	5168	+		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)	1669			Collagen IV NC1.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	ENST00000396578.3	37	c.5006G>C	CCDS42829.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.51|15.51	2.853637|2.853637	0.51270|0.51270	.|.	.|.	ENSG00000169031|ENSG00000169031	ENST00000328380|ENST00000396578	.|D	.|0.91996	.|-2.95	5.93|5.93	5.05|5.05	0.67936|0.67936	.|C-type lectin fold (1);	.|0.199322	.|0.35870	.|N	.|0.002933	T|T	0.71230|0.71230	0.3315|0.3315	N|N	0.01267|0.01267	-0.92|-0.92	0.31237|0.31237	N|N	0.695659|0.695659	P|P	0.38504|0.44734	0.634|0.842	B|B	0.39465|0.37731	0.3|0.257	T|T	0.75725|0.75725	-0.3217|-0.3217	8|10	0.51188|0.02654	T|T	0.08|1	.|.	8.2604|8.2604	0.31781|0.31781	0.0835:0.2071:0.7094:0.0|0.0835:0.2071:0.7094:0.0	.|.	1611|1669	Q01955-2|Q01955	.|CO4A3_HUMAN	N|T	1611|1669	.|ENSP00000379823:R1669T	ENSP00000327594:K1611N|ENSP00000379823:R1669T	K|R	+|+	3|2	2|0	COL4A3|COL4A3	227884823|227884823	0.964000|0.964000	0.33143|0.33143	0.942000|0.942000	0.38095|0.38095	0.831000|0.831000	0.47069|0.47069	1.614000|1.614000	0.36911|0.36911	2.814000|2.814000	0.96858|0.96858	0.655000|0.655000	0.94253|0.94253	AAG|AGA		0.328	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		10	28	0	0	0	1	0	10	28				
HSP90AB2P	391634	broad.mit.edu	37	4	13338870	13338870	+	RNA	SNP	G	G	A			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:13338870G>A	ENST00000602906.1	+	0	658							Q58FF8	H90B2_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 2, pseudogene						protein folding (GO:0006457)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			kidney(3)|lung(1)	4						gggttcagatgaggaggatga	0.388																																						ENST00000602906.1																			0				kidney(3)|lung(1)	4																																														391634							g.chr4:13338870G>A	AY956763		4p15.33	2012-04-18	2011-04-15		ENSG00000205940	ENSG00000205940			32537	pseudogene	pseudogene			"""heat shock protein 90kDa alpha (cytosolic), class B member 2 (pseudogene)"""			16269234	Standard	NG_032979		Approved	HSP90BB		Q58FF8			4.37:g.13338870G>A														0	658	+									RNA	SNP	ENST00000602906.1	37																																																																																						0.388	HSP90AB2P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000359156.2			3	24	0	0	0	1	0	3	24				
MANBA	4126	broad.mit.edu	37	4	103578858	103578858	+	Missense_Mutation	SNP	G	G	A	rs374407182		TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr4:103578858G>A	ENST00000226578.4	-	12	1784	c.1685C>T	c.(1684-1686)tCc>tTc	p.S562F	MANBA_ENST00000505239.1_Missense_Mutation_p.S505F	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	562					cellular protein modification process (GO:0006464)|glycoprotein catabolic process (GO:0006516)|mannan catabolic process (GO:0046355)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)	beta-mannosidase activity (GO:0004567)|mannose binding (GO:0005537)			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		TGTACTGAAGGACGGCCAGGA	0.373																																						ENST00000226578.4																			0				cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1684-1686)tCc>tTc		mannosidase, beta A, lysosomal		G	PHE/SER	1,4405	2.1+/-5.4	0,1,2202	97.0	90.0	93.0		1685	5.0	1.0	4		93	0,8600		0,0,4300	no	missense	MANBA	NM_005908.3	155	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	562/880	103578858	1,13005	2203	4300	6503	SO:0001583	missense	4126				carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding	g.chr4:103578858G>A		CCDS3658.1	4q24	2013-09-20			ENSG00000109323	ENSG00000109323	3.2.1.25		6831	protein-coding gene	gene with protein product		609489				7876128	Standard	NM_005908		Approved		uc003hwg.3	O00462	OTTHUMG00000131123	ENST00000226578.4:c.1685C>T	4.37:g.103578858G>A	ENSP00000226578:p.Ser562Phe					MANBA_ENST00000505239.1_Missense_Mutation_p.S505F	p.S562F	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)	12	1784	-		Hepatocellular(203;0.217)	562					Q96BC3|Q9NYX9	Missense_Mutation	SNP	ENST00000226578.4	37	c.1685C>T	CCDS3658.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.320263	0.81469	2.27E-4	0.0	ENSG00000109323	ENST00000226578;ENST00000505239	T;T	0.77489	-1.1;-1.1	4.99	4.99	0.66335	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.91878	0.7429	H	0.95294	3.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.994	D	0.94395	0.7617	10	0.87932	D	0	-15.5516	18.2878	0.90120	0.0:0.0:1.0:0.0	.	505;562	E9PFW2;O00462	.;MANBA_HUMAN	F	562;505	ENSP00000226578:S562F;ENSP00000427322:S505F	ENSP00000226578:S562F	S	-	2	0	MANBA	103797906	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	9.339000	0.96797	2.321000	0.78463	0.650000	0.86243	TCC		0.373	MANBA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253803.2			34	44	0	0	0	1	0	34	44				
ZIM3	114026	broad.mit.edu	37	19	57646326	57646326	+	Nonsense_Mutation	SNP	G	G	T			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr19:57646326G>T	ENST00000269834.1	-	5	1764	c.1379C>A	c.(1378-1380)tCa>tAa	p.S460*	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	460					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AACAAGGTATGACCTGTCAGC	0.423																																						ENST00000269834.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52						c.(1378-1380)tCa>tAa		zinc finger, imprinted 3							130.0	129.0	129.0					19																	57646326		2203	4300	6503	SO:0001587	stop_gained	114026				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57646326G>T	AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"""Zinc fingers, C2H2-type"", ""-"""	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.1379C>A	19.37:g.57646326G>T	ENSP00000269834:p.Ser460*						p.S460*	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	1764	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)	460					Q14CA6	Nonsense_Mutation	SNP	ENST00000269834.1	37	c.1379C>A	CCDS33125.1	.	.	.	.	.	.	.	.	.	.	G	38	6.707091	0.97776	.	.	ENSG00000141946	ENST00000269834	.	.	.	2.16	-0.0883	0.13674	.	.	.	.	.	.	.	.	.	.	.	0.27016	N	0.964578	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.2787	0.20995	0.2887:0.0:0.7113:0.0	.	.	.	.	X	460	.	ENSP00000269834:S460X	S	-	2	0	ZIM3	62338138	0.000000	0.05858	0.001000	0.08648	0.280000	0.26924	-0.354000	0.07681	0.050000	0.15949	0.313000	0.20887	TCA		0.423	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465078.1			39	67	1	0	6.5261e-18	1	6.83687e-18	39	67				
MYO10	4651	broad.mit.edu	37	5	16671030	16671039	+	Frame_Shift_Del	DEL	GAACCTGGAG	GAACCTGGAG	-	rs373476309		TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr5:16671030_16671039delGAACCTGGAG	ENST00000513610.1	-	39	5933_5942	c.5479_5488delCTCCAGGTTC	c.(5479-5490)ctccaggttcttfs	p.LQVL1827fs	MYO10_ENST00000515803.1_Frame_Shift_Del_p.LQVL1166fs|MYO10_ENST00000427430.2_Frame_Shift_Del_p.LQVL1184fs|MYO10_ENST00000505695.1_Frame_Shift_Del_p.LQVL1166fs|MYO10_ENST00000274203.9_Frame_Shift_Del_p.LQVL1184fs	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1827	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						AGGGCAGCAAGAACCTGGAGGTTTTCTTCC	0.576																																						ENST00000513610.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.(5479-5490)ttfs		myosin X																																				SO:0001589	frameshift_variant	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16671030_16671039delGAACCTGGAG	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.5479_5488delCTCCAGGTTC	5.37:g.16671030_16671039delGAACCTGGAG	ENSP00000421280:p.Leu1827fs					MYO10_ENST00000427430.2_Frame_Shift_Del_p.LQVL1184fs|MYO10_ENST00000505695.1_Frame_Shift_Del_p.LQVL1166fs|MYO10_ENST00000515803.1_Frame_Shift_Del_p.LQVL1166fs|MYO10_ENST00000274203.9_Frame_Shift_Del_p.LQVL1184fs	p.LQVL1827fs	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN			39	5933_5942	-			1827			FERM.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Frame_Shift_Del	DEL	ENST00000513610.1	37	c.5479_5488delCTCCAGGTTC	CCDS54834.1																																																																																				0.576	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		12	38						12	38	---	---	---	---
IFNA17	3451	broad.mit.edu	37	9	21227622	21227623	+	Frame_Shift_Ins	INS	-	-	T	rs9298814	byFrequency	TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr9:21227622_21227623insT	ENST00000413767.2	-	1	598_599	c.550_551insA	c.(550-552)atafs	p.I184fs		NM_021268.2	NP_067091.1	P01571	IFN17_HUMAN	interferon, alpha 17	184			I -> R (in dbSNP:rs9298814). {ECO:0000269|PubMed:3767336, ECO:0000269|PubMed:4008999, ECO:0000269|PubMed:9712362}.		adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			breast(1)|endometrium(2)|lung(4)|ovary(1)|skin(1)	9				Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		CCTCCTTAATATTTTTTGCAAG	0.381																																						ENST00000413767.2																			0				breast(1)|endometrium(2)|lung(4)|ovary(1)|skin(1)	9	GRCh37	CM041015	IFNA17	M	rs9298814	c.(550-552)attfs		interferon, alpha 17																																				SO:0001589	frameshift_variant	3451				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:21227622_21227623insT		CCDS6500.1	9p22	2010-12-10			ENSG00000234829	ENSG00000234829		"""Interferons"""	5422	protein-coding gene	gene with protein product		147583				1385305	Standard	NM_021268		Approved	LEIF2C1, IFN-alphaI	uc003zos.1	P01571	OTTHUMG00000019667	ENST00000413767.2:c.551dupA	9.37:g.21227628_21227628dupT	ENSP00000411940:p.Ile184fs						p.I184fs	NM_021268.2	NP_067091.1	P01571	IFN17_HUMAN		Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)	1	598_599	-			184		I -> R (in dbSNP:rs9298814).			Q14639|Q4KMT4|Q5VZ53|Q7M4Q4	Frame_Shift_Ins	INS	ENST00000413767.2	37	c.550_551insA	CCDS6500.1																																																																																				0.381	IFNA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051896.1	NM_021268		105	195						105	195	---	---	---	---
UPF2	26019	broad.mit.edu	37	10	12041994	12041994	+	Frame_Shift_Del	DEL	C	C	-			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr10:12041994delC	ENST00000356352.2	-	6	2142	c.1669delG	c.(1669-1671)gaafs	p.E557fs	UPF2_ENST00000397053.2_Frame_Shift_Del_p.E557fs|UPF2_ENST00000357604.5_Frame_Shift_Del_p.E557fs			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	557					gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				GTGCTGGCTTCCTCATCTTCT	0.343																																						ENST00000356352.2																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56						c.(1669-1671)aafs		UPF2 regulator of nonsense transcripts homolog (yeast)							140.0	122.0	128.0					10																	12041994		2203	4300	6503	SO:0001589	frameshift_variant	26019				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding	g.chr10:12041994delC	AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.1669delG	10.37:g.12041994delC	ENSP00000348708:p.Glu557fs					UPF2_ENST00000357604.5_Frame_Shift_Del_p.E557fs|UPF2_ENST00000397053.2_Frame_Shift_Del_p.E557fs	p.E557fs			Q9HAU5	RENT2_HUMAN			6	2142	-		Renal(717;0.228)	557					A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Frame_Shift_Del	DEL	ENST00000356352.2	37	c.1669delG	CCDS7086.1																																																																																				0.343	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1			32	55						32	55	---	---	---	---
LRIG3	121227	broad.mit.edu	37	12	59268350	59268351	+	Frame_Shift_Ins	INS	-	-	G			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr12:59268350_59268351insG	ENST00000320743.3	-	17	2986_2987	c.2700_2701insC	c.(2698-2703)acctgcfs	p.C901fs	LRIG3_ENST00000379141.4_Frame_Shift_Ins_p.C841fs	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	901					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TCAATATGGCAGGTCCCTTTGA	0.401			T	ROS1	NSCLC																																	ENST00000320743.3				Dom	yes		12	12q14.1	121227	T	leucine-rich repeats and immunoglobulin-like domains 3			E	ROS1		NSCLC	LRIG3/ROS1(2)	0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(2698-2703)acgccafs		leucine-rich repeats and immunoglobulin-like domains 3																																				SO:0001589	frameshift_variant	121227					integral to membrane		g.chr12:59268350_59268351insG	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.2701dupC	12.37:g.59268352_59268352dupG	ENSP00000326759:p.Cys901fs					LRIG3_ENST00000379141.4_Frame_Shift_Ins_p.P841fs	p.P901fs	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		17	2986_2987	-			901					Q6UXL7|Q8NC72	Frame_Shift_Ins	INS	ENST00000320743.3	37	c.2700_2701insC	CCDS8960.1																																																																																				0.401	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		7	105						7	105	---	---	---	---
AJUBA	84962	broad.mit.edu	37	14	23442750	23442750	+	Frame_Shift_Del	DEL	C	C	-			TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr14:23442750delC	ENST00000262713.2	-	8	1894	c.1519delG	c.(1519-1521)gaafs	p.E507fs	AJUBA_ENST00000397388.3_Frame_Shift_Del_p.E90fs|AJUBA_ENST00000361265.4_Frame_Shift_Del_p.E507fs|RP11-298I3.5_ENST00000555074.1_Intron	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein	507	LIM zinc-binding 3. {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)										CAGCAGCCTTCCTCATCACTC	0.572											OREG0022591	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000262713.2																			0											c.(1519-1521)aafs		ajuba LIM protein							97.0	80.0	86.0					14																	23442750		2203	4300	6503	SO:0001589	frameshift_variant	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.chr14:23442750delC	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.1519delG	14.37:g.23442750delC	ENSP00000262713:p.Glu507fs		OREG0022591	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	763	AJUBA_ENST00000361265.4_Frame_Shift_Del_p.E507fs|AJUBA_ENST00000397388.3_Frame_Shift_Del_p.E90fs|RP11-298I3.5_ENST00000555074.1_Intron	p.E507fs	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN			8	1894	-			507			LIM zinc-binding 3.		A8MX18|D3DS37	Frame_Shift_Del	DEL	ENST00000262713.2	37	c.1519delG	CCDS9581.1																																																																																				0.572	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071685.2			17	43						17	43	---	---	---	---
TMC5	79838	broad.mit.edu	37	16	19451960	19451961	+	Frame_Shift_Del	DEL	CT	CT	-	rs377544565		TCGA-P3-A5QF-01A-11D-A28R-08	TCGA-P3-A5QF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117f5f94-6df5-4804-81a1-81856d055215	5023dd6c-0550-4957-8c59-946560c7a37f	g.chr16:19451960_19451961delCT	ENST00000396229.2	+	3	1349_1350	c.600_601delCT	c.(598-603)gactctfs	p.S201fs	TMC5_ENST00000542583.2_Frame_Shift_Del_p.S201fs|TMC5_ENST00000381414.4_Frame_Shift_Del_p.S201fs|TMC5_ENST00000541464.1_Frame_Shift_Del_p.S201fs	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	201					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CATACGCAGACTCTCTGGGAAA	0.465																																						ENST00000396229.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(598-603)gactfs		transmembrane channel-like 5																																				SO:0001589	frameshift_variant	79838					integral to membrane		g.chr16:19451960_19451961delCT	AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.600_601delCT	16.37:g.19451964_19451965delCT	ENSP00000379531:p.Ser201fs					TMC5_ENST00000541464.1_Frame_Shift_Del_p.DS200fs|TMC5_ENST00000542583.2_Frame_Shift_Del_p.DS200fs|TMC5_ENST00000381414.4_Frame_Shift_Del_p.DS200fs	p.DS200fs	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN			3	1349_1350	+			200					Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Frame_Shift_Del	DEL	ENST00000396229.2	37	c.600_601delCT	CCDS45431.1																																																																																				0.465	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780		60	130						60	130	---	---	---	---
