#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
PSG8	440533	broad.mit.edu	37	19	43258583	43258583	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr19:43258583G>T	ENST00000306511.4	-	5	1242	c.1145C>A	c.(1144-1146)cCc>cAc	p.P382H	PSG8_ENST00000401467.2_Missense_Mutation_p.P289H|PSG8_ENST00000406636.3_Missense_Mutation_p.P260H|PSG8_ENST00000404209.4_Missense_Mutation_p.P382H|PSG8_ENST00000600709.1_5'UTR	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	382	Ig-like C2-type 3.					extracellular region (GO:0005576)		p.P382L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				AGTAATTTGGGGGATAAAGAG	0.463																																						ENST00000404209.4																			1	Substitution - Missense(1)	p.P382L(1)	skin(1)	breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40						c.(1144-1146)cCc>cAc		pregnancy specific beta-1-glycoprotein 8							206.0	222.0	217.0					19																	43258583		2203	4299	6502	SO:0001583	missense	440533					extracellular region		g.chr19:43258583G>T	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.1145C>A	19.37:g.43258583G>T	ENSP00000305005:p.Pro382His					PSG8_ENST00000401467.2_Missense_Mutation_p.P289H|PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000306511.4_Missense_Mutation_p.P382H|PSG8_ENST00000406636.3_Missense_Mutation_p.P260H	p.P382H	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN			5	1241	-		Prostate(69;0.00899)	382			Ig-like C2-type 3.		A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	c.1145C>A	CCDS33037.1	.	.	.	.	.	.	.	.	.	.	N	1.572	-0.533785	0.04082	.	.	ENSG00000124467	ENST00000404209;ENST00000292109;ENST00000406636;ENST00000401467;ENST00000426252;ENST00000407488;ENST00000306511	T;T;T;T	0.14022	2.54;2.54;2.54;2.54	1.38	-2.23	0.06930	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.24353	0.0590	L	0.53561	1.675	0.09310	N	1	B;P;P;P;D;D	0.54397	0.016;0.95;0.924;0.956;0.958;0.966	B;D;P;D;D;D	0.69307	0.079;0.945;0.893;0.963;0.921;0.953	T	0.13150	-1.0520	9	0.87932	D	0	.	4.8009	0.13296	0.3875:0.0:0.6125:0.0	.	260;289;382;289;382;382	Q9UQ74-2;B5MCQ0;Q9UQ74;E7ENH0;Q9UQ74-3;A5PKV3	.;.;PSG8_HUMAN;.;.;.	H	382;164;260;289;194;289;382	ENSP00000385869:P382H;ENSP00000385081:P260H;ENSP00000386090:P289H;ENSP00000305005:P382H	ENSP00000292109:P164H	P	-	2	0	PSG8	47950423	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.003000	0.13083	-0.922000	0.03789	-1.261000	0.01458	CCC		0.463	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			8	438	1	0	7.48243e-07	1	8.16922e-07	8	438				
PLCB4	5332	broad.mit.edu	37	20	9402028	9402028	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr20:9402028C>G	ENST00000378493.1	+	23	2218	c.2203C>G	c.(2203-2205)Cgt>Ggt	p.R735G	PLCB4_ENST00000334005.3_Missense_Mutation_p.R735G|PLCB4_ENST00000414679.2_Missense_Mutation_p.R747G|PLCB4_ENST00000378473.3_Missense_Mutation_p.R747G|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378501.2_Missense_Mutation_p.R735G|PLCB4_ENST00000278655.4_Missense_Mutation_p.R735G			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	735	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TGACACCATACGTAAGGAATT	0.413																																						ENST00000378501.2																			0				NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						c.(2203-2205)Cgt>Ggt		phospholipase C, beta 4							143.0	126.0	132.0					20																	9402028		2203	4300	6503	SO:0001583	missense	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9402028C>G		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.2203C>G	20.37:g.9402028C>G	ENSP00000367754:p.Arg735Gly					PLCB4_ENST00000378473.3_Missense_Mutation_p.R747G|PLCB4_ENST00000334005.3_Missense_Mutation_p.R735G|PLCB4_ENST00000278655.4_Missense_Mutation_p.R735G|PLCB4_ENST00000414679.2_Missense_Mutation_p.R747G|PLCB4_ENST00000378493.1_Missense_Mutation_p.R735G|PLCB4_ENST00000492632.1_3'UTR	p.R735G	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN			23	2218	+			735			C2.		B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	c.2203C>G	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.259554	0.80246	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53;2.53	5.68	4.71	0.59529	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.050340	0.85682	D	0.000000	T	0.44993	0.1320	M	0.88310	2.945	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;P;D;D	0.97110	0.999;0.833;0.997;1.0	T	0.56950	-0.7894	10	0.87932	D	0	.	15.8674	0.79074	0.1365:0.8635:0.0:0.0	.	747;582;735;735	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	G	735;747;735;735;735;583	ENSP00000334105:R735G;ENSP00000367734:R747G;ENSP00000278655:R735G;ENSP00000367754:R735G;ENSP00000367762:R735G;ENSP00000390616:R583G	ENSP00000278655:R735G	R	+	1	0	PLCB4	9350028	1.000000	0.71417	0.948000	0.38648	0.892000	0.51952	6.040000	0.70980	1.364000	0.46038	0.467000	0.42956	CGT		0.413	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			5	84	0	0	0	1	0	5	84				
TRIP11	9321	broad.mit.edu	37	14	92480763	92480763	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr14:92480763C>T	ENST00000267622.4	-	7	1355	c.982G>A	c.(982-984)Gac>Aac	p.D328N		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	328					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		ATATCTCTGTCATTTTCTGCA	0.289			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	ENST00000267622.4				Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(982-984)Gac>Aac		thyroid hormone receptor interactor 11							81.0	73.0	75.0					14																	92480763		2203	4300	6503	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92480763C>T	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.982G>A	14.37:g.92480763C>T	ENSP00000267622:p.Asp328Asn						p.D328N	NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	7	1355	-			328					B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.982G>A	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.977211	0.74360	.	.	ENSG00000100815	ENST00000267622;ENST00000542257	T	0.62498	0.02	4.98	4.98	0.66077	.	0.208916	0.42682	D	0.000674	T	0.64746	0.2626	M	0.67953	2.075	0.31820	N	0.626057	B;P	0.39862	0.004;0.692	B;P	0.44990	0.007;0.466	T	0.73889	-0.3840	10	0.59425	D	0.04	.	10.3419	0.43884	0.0:0.8726:0.0:0.1274	.	93;328	F5H1Z0;Q15643	.;TRIPB_HUMAN	N	328;93	ENSP00000267622:D328N	ENSP00000267622:D328N	D	-	1	0	TRIP11	91550516	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.473000	0.45145	2.455000	0.83008	0.561000	0.74099	GAC		0.289	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			9	34	0	0	0	1	0	9	34				
SPG11	80208	broad.mit.edu	37	15	44856771	44856771	+	Silent	SNP	G	G	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr15:44856771G>T	ENST00000261866.7	-	39	7141	c.7125C>A	c.(7123-7125)tcC>tcA	p.S2375S	SPG11_ENST00000535302.2_Silent_p.S2262S|SPG11_ENST00000427534.2_Intron	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	2375					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CAAATATACTGGACTTTAATA	0.323																																						ENST00000261866.7																			0				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72						c.(7123-7125)tcC>tcA		spastic paraplegia 11 (autosomal recessive)							53.0	56.0	55.0					15																	44856771		2198	4297	6495	SO:0001819	synonymous_variant	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44856771G>T		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.7125C>A	15.37:g.44856771G>T						SPG11_ENST00000427534.2_Intron|SPG11_ENST00000535302.2_Silent_p.S2262S	p.S2375S	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	39	7141	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	2375					A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Silent	SNP	ENST00000261866.7	37	c.7125C>A	CCDS10112.1																																																																																				0.323	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			6	36	1	0	3.59834e-05	1	3.81795e-05	6	36				
AHNAK	79026	broad.mit.edu	37	11	62292516	62292516	+	Missense_Mutation	SNP	C	C	T	rs79187953		TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr11:62292516C>T	ENST00000378024.4	-	5	9647	c.9373G>A	c.(9373-9375)Gtg>Atg	p.V3125M	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3125					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTAATATCCACGTCAGGAACT	0.458													C|||	1	0.000199681	0.0	0.0	5008	,	,		20858	0.0		0.001	False		,,,				2504	0.0					ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(9373-9375)Gtg>Atg		AHNAK nucleoprotein		C	MET/VAL,	0,4404		0,0,2202	210.0	230.0	223.0		9373,	1.6	0.0	11	dbSNP_131	223	1,8597	1.2+/-3.3	0,1,4298	no	missense,intron	AHNAK	NM_001620.1,NM_024060.2	21,	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,	3125/5891,	62292516	1,13001	2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62292516C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.9373G>A	11.37:g.62292516C>T	ENSP00000367263:p.Val3125Met					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.V3125M	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	9647	-		Melanoma(852;0.155)	3125					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.9373G>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	c	5.705	0.314529	0.10789	0.0	1.16E-4	ENSG00000124942	ENST00000378024	T	0.01221	5.15	3.66	1.56	0.23342	.	.	.	.	.	T	0.06781	0.0173	M	0.84585	2.705	0.20638	N	0.99988	D	0.89917	1.0	D	0.70016	0.967	T	0.19679	-1.0298	9	0.42905	T	0.14	-15.6249	5.2132	0.15329	0.0:0.618:0.1713:0.2107	.	3125	Q09666	AHNK_HUMAN	M	3125	ENSP00000367263:V3125M	ENSP00000367263:V3125M	V	-	1	0	AHNAK	62049092	0.000000	0.05858	0.007000	0.13788	0.053000	0.15095	-0.433000	0.06948	0.651000	0.30788	0.305000	0.20034	GTG		0.458	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		80	382	0	0	0	1	0	80	382				
PRKACG	5568	broad.mit.edu	37	9	71628437	71628437	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr9:71628437C>T	ENST00000377276.2	-	1	602	c.572G>A	c.(571-573)cGc>cAc	p.R191H		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	191	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|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)|male gonad development (GO:0008584)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GCCCTTCACGCGCTTGGCGAA	0.627																																					Esophageal Squamous(110;2236 2623 32146)	ENST00000377276.2																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						c.(571-573)cGc>cAc		protein kinase, cAMP-dependent, catalytic, gamma							48.0	47.0	48.0					9																	71628437		2203	4300	6503	SO:0001583	missense	5568				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity	g.chr9:71628437C>T	M34182	CCDS6625.1	9q13	2012-10-02			ENSG00000165059	ENSG00000165059	2.7.11.1		9382	protein-coding gene	gene with protein product		176893				2342480, 9598317	Standard	NM_002732		Approved	PKACg	uc004agy.3	P22612	OTTHUMG00000019974	ENST00000377276.2:c.572G>A	9.37:g.71628437C>T	ENSP00000366488:p.Arg191His						p.R191H	NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN			1	602	-			191			Protein kinase.		O60850|Q5VZ02|Q86YI1	Missense_Mutation	SNP	ENST00000377276.2	37	c.572G>A	CCDS6625.1	.	.	.	.	.	.	.	.	.	.	C	12.86	2.064166	0.36373	.	.	ENSG00000165059	ENST00000377276	T	0.66099	-0.19	1.03	1.03	0.20045	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.30771	U	0.008917	T	0.47021	0.1423	L	0.38531	1.155	0.28973	N	0.889121	B	0.32245	0.361	B	0.32677	0.15	T	0.45614	-0.9249	10	0.54805	T	0.06	.	7.4815	0.27408	0.0:1.0:0.0:0.0	.	191	P22612	KAPCG_HUMAN	H	191	ENSP00000366488:R191H	ENSP00000366488:R191H	R	-	2	0	PRKACG	70818257	0.047000	0.20315	0.007000	0.13788	0.007000	0.05969	3.736000	0.55052	0.458000	0.26988	0.467000	0.42956	CGC		0.627	PRKACG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052559.1			3	39	0	0	0	1	0	3	39				
CAPN13	92291	broad.mit.edu	37	2	30976005	30976005	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr2:30976005G>T	ENST00000295055.8	-	10	1177	c.1001C>A	c.(1000-1002)cCa>cAa	p.P334Q	CAPN13_ENST00000534090.2_Missense_Mutation_p.P334Q	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	334					proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					CAGGGTAATTGGAATTTCGCT	0.418																																						ENST00000295055.8																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30						c.(1000-1002)cCa>cAa		calpain 13							246.0	225.0	232.0					2																	30976005		1916	4119	6035	SO:0001583	missense	92291				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr2:30976005G>T		CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.1001C>A	2.37:g.30976005G>T	ENSP00000295055:p.Pro334Gln					CAPN13_ENST00000534090.2_Missense_Mutation_p.P334Q	p.P334Q	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN			10	1177	-	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)		334					Q17RF0|Q580X1|Q8TE80	Missense_Mutation	SNP	ENST00000295055.8	37	c.1001C>A	CCDS46252.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.412436	0.42817	.	.	ENSG00000162949	ENST00000295055;ENST00000534090	T;T	0.20069	2.1;2.1	5.27	5.27	0.74061	Peptidase C2, calpain, catalytic domain (1);	0.506052	0.24187	N	0.040747	T	0.54679	0.1873	M	0.90870	3.155	0.41798	D	0.989901	D	0.89917	1.0	D	0.79108	0.992	T	0.65187	-0.6229	10	0.87932	D	0	.	14.3858	0.66942	0.0:0.0:1.0:0.0	.	334	Q6MZZ7	CAN13_HUMAN	Q	334	ENSP00000295055:P334Q;ENSP00000431298:P334Q	ENSP00000295055:P334Q	P	-	2	0	CAPN13	30829509	1.000000	0.71417	0.110000	0.21437	0.217000	0.24651	5.259000	0.65485	2.462000	0.83206	0.561000	0.74099	CCA		0.418	CAPN13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325101.2	NM_144575		7	214	1	0	0.0381472	1	0.0383168	7	214				
LIX1	167410	broad.mit.edu	37	5	96460172	96460172	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr5:96460172G>A	ENST00000274382.4	-	2	539	c.244C>T	c.(244-246)Cag>Tag	p.Q82*	CTD-2215E18.1_ENST00000509481.1_Intron	NM_153234.4	NP_694966.3	Q8N485	LIX1_HUMAN	Lix1 homolog (chicken)	82										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.0733)		CTTCTTACCTGAAAGTTGCCA	0.428																																						ENST00000274382.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10						c.(244-246)Cag>Tag		Lix1 homolog (chicken)							65.0	68.0	67.0					5																	96460172		2203	4300	6503	SO:0001587	stop_gained	167410							g.chr5:96460172G>A		CCDS4088.1	5q15	2008-03-06	2008-03-06	2005-02-07	ENSG00000145721	ENSG00000145721			18581	protein-coding gene	gene with protein product		610466	"""chromosome 5 open reading frame 11"", ""Lix1 homolog (mouse)"""	C5orf11		11731258	Standard	NM_153234		Approved		uc003kmy.4	Q8N485	OTTHUMG00000128720	ENST00000274382.4:c.244C>T	5.37:g.96460172G>A	ENSP00000274382:p.Gln82*					CTD-2215E18.1_ENST00000509481.1_Intron	p.Q82*	NM_153234.4	NP_694966.3	Q8N485	LIX1_HUMAN		COAD - Colon adenocarcinoma(37;0.0733)	2	539	-		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)	82					A8K4R9|Q8N7I2	Nonsense_Mutation	SNP	ENST00000274382.4	37	c.244C>T	CCDS4088.1	.	.	.	.	.	.	.	.	.	.	G	38	6.735311	0.97801	.	.	ENSG00000145721	ENST00000274382;ENST00000512378	.	.	.	5.46	5.46	0.80206	.	0.051099	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-17.8581	19.2685	0.93998	0.0:0.0:1.0:0.0	.	.	.	.	X	82;58	.	ENSP00000274382:Q82X	Q	-	1	0	LIX1	96485928	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.542000	0.45744	2.724000	0.93272	0.491000	0.48974	CAG		0.428	LIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250625.1	NM_153234		19	76	0	0	0	1	0	19	76				
DAXX	1616	broad.mit.edu	37	6	33288849	33288849	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr6:33288849G>C	ENST00000374542.5	-	3	907	c.703C>G	c.(703-705)Ctc>Gtc	p.L235V	DAXX_ENST00000477162.1_Intron|DAXX_ENST00000266000.6_Missense_Mutation_p.L235V|DAXX_ENST00000414083.2_Missense_Mutation_p.L160V	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	235	Interaction with histone H3.3.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						CGCCCAAAGAGGCGGATCAGC	0.572			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM																																	ENST00000374542.5				Rec	yes		6	6p21.3	1616	"""Mis, F, N"""	death-domain associated protein			E			Pancreatic neuroendocrine tumors. Paediatric GBM		0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						c.(703-705)Ctc>Gtc		death-domain associated protein							49.0	47.0	48.0					6																	33288849		2203	4300	6503	SO:0001583	missense	1616				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	g.chr6:33288849G>C	AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"""death-associated protein 6"""			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.703C>G	6.37:g.33288849G>C	ENSP00000363668:p.Leu235Val					DAXX_ENST00000414083.2_Missense_Mutation_p.L160V|DAXX_ENST00000266000.6_Missense_Mutation_p.L235V|DAXX_ENST00000477162.1_Intron	p.L235V	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN			3	907	-			235					B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Missense_Mutation	SNP	ENST00000374542.5	37	c.703C>G	CCDS4776.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.586776	0.66105	.	.	ENSG00000204209	ENST00000266000;ENST00000374542;ENST00000414083	.	.	.	4.94	4.94	0.65067	.	0.058664	0.64402	D	0.000003	T	0.43590	0.1254	L	0.41356	1.27	0.42088	D	0.991284	B;D;D	0.53619	0.125;0.961;0.961	B;P;P	0.54856	0.112;0.762;0.762	T	0.31308	-0.9948	9	0.35671	T	0.21	-14.851	10.7188	0.46028	0.0:0.0:0.8101:0.1899	.	247;235;235	B4E1C1;B2R7M0;Q9UER7	.;.;DAXX_HUMAN	V	235;235;160	.	ENSP00000266000:L235V	L	-	1	0	DAXX	33396827	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.323000	0.52014	2.578000	0.87016	0.643000	0.83706	CTC		0.572	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1			4	81	0	0	0	1	0	4	81				
MAG	4099	broad.mit.edu	37	19	35786626	35786626	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr19:35786626G>A	ENST00000392213.3	+	4	316	c.157G>A	c.(157-159)Gct>Act	p.A53T	MAG_ENST00000537831.2_Missense_Mutation_p.A28T|MAG_ENST00000361922.4_Missense_Mutation_p.A53T|MAG_ENST00000597035.1_Missense_Mutation_p.A53T	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	53	Ig-like V-type.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)	p.A53T(4)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GCTGCGGCCCGCTGTGGTGCA	0.622																																						ENST00000361922.4																			4	Substitution - Missense(4)	p.A53T(4)	large_intestine(2)|lung(2)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34						c.(157-159)Gct>Act		myelin associated glycoprotein							78.0	81.0	80.0					19																	35786626		2203	4300	6503	SO:0001583	missense	4099				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	g.chr19:35786626G>A	M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6783	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 4A"""	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.157G>A	19.37:g.35786626G>A	ENSP00000376048:p.Ala53Thr					MAG_ENST00000392213.3_Missense_Mutation_p.A53T|MAG_ENST00000597035.1_Missense_Mutation_p.A53T|MAG_ENST00000537831.2_Missense_Mutation_p.A28T	p.A53T	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		4	307	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	53			Ig-like V-type.		B7Z2E5|F5GYC0|Q567S4	Missense_Mutation	SNP	ENST00000392213.3	37	c.157G>A	CCDS12455.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.687043	0.29962	.	.	ENSG00000105695	ENST00000262624;ENST00000361922;ENST00000392213;ENST00000537831	T;T;T	0.43294	0.95;0.95;0.95	5.4	3.25	0.37280	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.316454	0.34133	N	0.004234	T	0.13628	0.0330	N	0.05383	-0.06	0.20403	N	0.999909	P;P;P	0.36144	0.48;0.539;0.539	B;B;B	0.21151	0.033;0.024;0.024	T	0.16453	-1.0402	10	0.09843	T	0.71	.	4.9197	0.13864	0.0804:0.1469:0.6207:0.1519	.	90;53;53	Q59GD9;P20916;Q567S4	.;MAG_HUMAN;.	T	90;53;53;28	ENSP00000355234:A53T;ENSP00000376048:A53T;ENSP00000440695:A28T	ENSP00000262624:A90T	A	+	1	0	MAG	40478466	0.027000	0.19231	0.106000	0.21319	0.842000	0.47809	0.990000	0.29642	0.775000	0.33450	-0.374000	0.07098	GCT		0.622	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600		5	148	0	0	0	1	0	5	148				
PEX6	5190	broad.mit.edu	37	6	42935145	42935145	+	Silent	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr6:42935145G>A	ENST00000304611.8	-	8	1914	c.1845C>T	c.(1843-1845)ggC>ggT	p.G615G	PEX6_ENST00000244546.4_Silent_p.G615G	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	615					ATP catabolic process (GO:0006200)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix, translocation (GO:0016561)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			TCACCTCCTGGCCCAGGGGAA	0.602																																						ENST00000304611.8																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15						c.(1843-1845)ggC>ggT		peroxisomal biogenesis factor 6							31.0	29.0	30.0					6																	42935145		2203	4300	6503	SO:0001819	synonymous_variant	5190				protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr6:42935145G>A	U56602	CCDS4877.1	6p22-p11	2010-04-21			ENSG00000124587	ENSG00000124587		"""ATPases / AAA-type"""	8859	protein-coding gene	gene with protein product		601498				8670792	Standard	NM_000287		Approved	PXAAA1, PAF-2	uc003otf.3	Q13608	OTTHUMG00000014713	ENST00000304611.8:c.1845C>T	6.37:g.42935145G>A						PEX6_ENST00000244546.4_Silent_p.G615G	p.G615G	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)		8	1914	-			615					Q5T8W1|Q8WYQ0|Q8WYQ1|Q8WYQ2|Q99476	Silent	SNP	ENST00000304611.8	37	c.1845C>T	CCDS4877.1																																																																																				0.602	PEX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040569.1	NM_000287		6	21	0	0	0	1	0	6	21				
FLG	2312	broad.mit.edu	37	1	152284654	152284654	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr1:152284654C>G	ENST00000368799.1	-	3	2743	c.2708G>C	c.(2707-2709)aGa>aCa	p.R903T	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	903	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAGCCGTCTCTTGATTGTTC	0.562									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(2707-2709)aGa>aCa		filaggrin							406.0	389.0	395.0					1																	152284654		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152284654C>G	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2708G>C	1.37:g.152284654C>G	ENSP00000357789:p.Arg903Thr					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.R903T	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2743	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		903			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.2708G>C	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	5.079	0.200322	0.09652	.	.	ENSG00000143631	ENST00000368799	T	0.01584	4.75	2.69	-4.61	0.03380	.	.	.	.	.	T	0.00328	0.0010	N	0.14661	0.345	0.09310	N	1	B	0.15141	0.012	B	0.04013	0.001	T	0.42413	-0.9453	9	0.15066	T	0.55	.	6.0698	0.19883	0.0:0.2911:0.5606:0.1483	.	903	P20930	FILA_HUMAN	T	903	ENSP00000357789:R903T	ENSP00000357789:R903T	R	-	2	0	FLG	150551278	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.224000	0.01213	-0.617000	0.05664	0.479000	0.44913	AGA		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		215	442	0	0	0	1	0	215	442				
LPIN1	23175	broad.mit.edu	37	2	11924028	11924028	+	Silent	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr2:11924028G>A	ENST00000256720.2	+	8	1323	c.1230G>A	c.(1228-1230)gcG>gcA	p.A410A	LPIN1_ENST00000396098.1_Silent_p.A452A|LPIN1_ENST00000396097.1_Silent_p.A140A|LPIN1_ENST00000449576.2_Silent_p.A495A|LPIN1_ENST00000396099.1_Silent_p.A452A|LPIN1_ENST00000425416.2_Silent_p.A416A	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	410					cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		CTGAAGTGGCGGCCCTGTATT	0.428																																						ENST00000256720.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45						c.(1228-1230)gcG>gcA		lipin 1							188.0	192.0	190.0					2																	11924028		2203	4300	6503	SO:0001819	synonymous_variant	23175				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity	g.chr2:11924028G>A	D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.1230G>A	2.37:g.11924028G>A						LPIN1_ENST00000396097.1_Silent_p.A140A|LPIN1_ENST00000396099.1_Silent_p.A452A|LPIN1_ENST00000425416.2_Silent_p.A416A|LPIN1_ENST00000449576.2_Silent_p.A495A|LPIN1_ENST00000396098.1_Silent_p.A452A	p.A410A	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN		Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)	8	1323	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		410					A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Silent	SNP	ENST00000256720.2	37	c.1230G>A	CCDS1682.1																																																																																				0.428	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	NM_145693		7	267	0	0	0	1	0	7	267				
MAPKAP1	79109	broad.mit.edu	37	9	128201270	128201270	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr9:128201270G>A	ENST00000373498.1	-	11	1533	c.1465C>T	c.(1465-1467)Cga>Tga	p.R489*	MAPKAP1_ENST00000373511.2_Nonsense_Mutation_p.R442*|MAPKAP1_ENST00000483937.1_5'UTR|MAPKAP1_ENST00000373497.5_Nonsense_Mutation_p.R202*|MAPKAP1_ENST00000265960.3_Nonsense_Mutation_p.R489*|MAPKAP1_ENST00000394063.1_Nonsense_Mutation_p.R297*|MAPKAP1_ENST00000350766.3_Nonsense_Mutation_p.R453*|MAPKAP1_ENST00000373503.3_Nonsense_Mutation_p.R297*			Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	489	Interaction with ATF2.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of Ras protein signal transduction (GO:0046580)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein kinase binding (GO:0019901)|Ras GTPase binding (GO:0017016)			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						GTGCTAGCTCGCGATTCCAGG	0.557																																						ENST00000265960.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						c.(1465-1467)Cga>Tga		mitogen-activated protein kinase associated protein 1							107.0	107.0	107.0					9																	128201270		2203	4300	6503	SO:0001587	stop_gained	79109				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding	g.chr9:128201270G>A	M37191	CCDS6864.1, CCDS35139.1, CCDS35140.1, CCDS35141.1, CCDS48020.1	9q34.11	2008-02-05			ENSG00000119487	ENSG00000119487			18752	protein-coding gene	gene with protein product	"""stress-activated protein kinase-interacting 1"""	610558				15363842	Standard	NM_001006620		Approved	MGC2745, SIN1, MIP1	uc004bpv.3	Q9BPZ7	OTTHUMG00000020683	ENST00000373498.1:c.1465C>T	9.37:g.128201270G>A	ENSP00000362597:p.Arg489*					MAPKAP1_ENST00000483937.1_5'UTR|MAPKAP1_ENST00000350766.3_Nonsense_Mutation_p.R453*|MAPKAP1_ENST00000373498.1_Nonsense_Mutation_p.R489*|MAPKAP1_ENST00000373497.5_Nonsense_Mutation_p.R202*|MAPKAP1_ENST00000373511.2_Nonsense_Mutation_p.R442*|MAPKAP1_ENST00000394063.1_Nonsense_Mutation_p.R297*|MAPKAP1_ENST00000373503.3_Nonsense_Mutation_p.R297*	p.R489*	NM_001006617.1	NP_001006618.1	Q9BPZ7	SIN1_HUMAN			12	1797	-			489			Interaction with ATF2.		A8K1Z5|B1AMA4|B7Z309|Q00426|Q5JSV5|Q5JSV6|Q5JSV9|Q658R0|Q699U1|Q699U2|Q699U3|Q699U4|Q6GVJ0|Q6GVJ1|Q6GVJ2	Nonsense_Mutation	SNP	ENST00000373498.1	37	c.1465C>T	CCDS35140.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	42|42	9.293305|9.293305	0.99127|0.99127	.|.	.|.	ENSG00000119487|ENSG00000119487	ENST00000444226|ENST00000373511;ENST00000350766;ENST00000373503;ENST00000373498;ENST00000265960;ENST00000394063;ENST00000373497	.|.	.|.	.|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.48447|.	0.1500|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.37220|.	-0.9715|.	4|.	.|0.02654	.|T	.|1	-3.8195|-3.8195	20.1723|20.1723	0.98160|0.98160	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	V|X	60|442;453;297;489;489;297;202	.|.	.|ENSP00000265960:R489X	A|R	-|-	2|1	0|2	MAPKAP1|MAPKAP1	127241091|127241091	1.000000|1.000000	0.71417|0.71417	0.949000|0.949000	0.38748|0.38748	0.957000|0.957000	0.61999|0.61999	6.944000|6.944000	0.75940|0.75940	2.768000|2.768000	0.95171|0.95171	0.655000|0.655000	0.94253|0.94253	GCG|CGA		0.557	MAPKAP1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054092.1			15	87	0	0	0	1	0	15	87				
ANKRD17	26057	broad.mit.edu	37	4	74005792	74005792	+	Silent	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr4:74005792C>T	ENST00000358602.4	-	15	2657	c.2541G>A	c.(2539-2541)aaG>aaA	p.K847K	ANKRD17_ENST00000509867.2_Silent_p.K734K|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000330838.6_Intron	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	847					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCTCCTCGATCTTCTCCTTGG	0.413																																						ENST00000358602.4																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.(2539-2541)aaG>aaA		ankyrin repeat domain 17							221.0	228.0	226.0					4																	74005792		2203	4300	6503	SO:0001819	synonymous_variant	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:74005792C>T	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.2541G>A	4.37:g.74005792C>T						ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000330838.6_Intron|ANKRD17_ENST00000509867.2_Silent_p.K734K	p.K847K	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		15	2657	-	Breast(15;0.000295)		847					E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Silent	SNP	ENST00000358602.4	37	c.2541G>A	CCDS34004.1																																																																																				0.413	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		6	245	0	0	0	1	0	6	245				
ASB9	140462	broad.mit.edu	37	X	15262664	15262664	+	Silent	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chrX:15262664G>A	ENST00000380488.4	-	7	1122	c.849C>T	c.(847-849)ctC>ctT	p.L283L	ASB9_ENST00000380483.3_3'UTR|ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380485.3_3'UTR|ASB9_ENST00000546332.1_3'UTR	NM_001031739.2	NP_001026909.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	283	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|positive regulation of protein catabolic process (GO:0045732)|protein ubiquitination (GO:0016567)	mitochondrion (GO:0005739)				breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					GATCCTCTGGGAGGACGAGTT	0.423																																						ENST00000380488.4																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15						c.(847-849)ctC>ctT		ankyrin repeat and SOCS box containing 9							147.0	129.0	135.0					X																	15262664		2203	4300	6503	SO:0001819	synonymous_variant	140462				intracellular signal transduction			g.chrX:15262664G>A	AK000643	CCDS14163.1, CCDS35208.1, CCDS55372.1	Xp22.2	2013-01-10	2011-01-25		ENSG00000102048	ENSG00000102048		"""Ankyrin repeat domain containing"""	17184	protein-coding gene	gene with protein product		300890	"""ankyrin repeat and SOCS box-containing 9"""			12076535	Standard	NM_001031739		Approved	DKFZP564L0862, MGC4954, FLJ20636	uc004cwl.3	Q96DX5	OTTHUMG00000021172	ENST00000380488.4:c.849C>T	X.37:g.15262664G>A						ASB9_ENST00000380485.3_3'UTR|ASB9_ENST00000546332.1_3'UTR|ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380483.3_3'UTR	p.L283L	NM_001031739.2	NP_001026909.1	Q96DX5	ASB9_HUMAN			7	1122	-	Hepatocellular(33;0.183)		283			SOCS box.		A8K8A5|Q9BVF5|Q9NWS5|Q9Y4T3	Silent	SNP	ENST00000380488.4	37	c.849C>T	CCDS35208.1																																																																																				0.423	ASB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055844.1			5	123	0	0	0	1	0	5	123				
TMIGD2	126259	broad.mit.edu	37	19	4294804	4294804	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr19:4294804G>A	ENST00000301272.2	-	3	461	c.416C>T	c.(415-417)aCa>aTa	p.T139I	TMIGD2_ENST00000600114.1_Missense_Mutation_p.T19I|TMIGD2_ENST00000600349.1_Intron|TMIGD2_ENST00000595645.1_Missense_Mutation_p.T139I	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	139					positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTGTTCTGTGTGGGGTCATC	0.592																																						ENST00000301272.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19						c.(415-417)aCa>aTa		transmembrane and immunoglobulin domain containing 2							108.0	106.0	107.0					19																	4294804		2203	4300	6503	SO:0001583	missense	126259					integral to membrane		g.chr19:4294804G>A	BC015655	CCDS12126.1, CCDS59334.1	19p13.3	2014-02-12	2006-07-05					"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28324	protein-coding gene	gene with protein product		614715					Standard	NM_144615		Approved	MGC23244	uc002lzx.2	Q96BF3		ENST00000301272.2:c.416C>T	19.37:g.4294804G>A	ENSP00000301272:p.Thr139Ile					TMIGD2_ENST00000600349.1_Intron|TMIGD2_ENST00000600114.1_Missense_Mutation_p.T19I|TMIGD2_ENST00000595645.1_Missense_Mutation_p.T139I	p.T139I	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)	3	461	-			139					Q6UW59	Missense_Mutation	SNP	ENST00000301272.2	37	c.416C>T	CCDS12126.1	.	.	.	.	.	.	.	.	.	.	G	4.560	0.104075	0.08731	.	.	ENSG00000167664	ENST00000301272	T	0.32753	1.44	2.49	-4.98	0.03019	.	.	.	.	.	T	0.12689	0.0308	N	0.19112	0.55	0.09310	N	1	B;B	0.21225	0.053;0.031	B;B	0.19391	0.025;0.011	T	0.25467	-1.0131	9	0.17832	T	0.49	.	0.7532	0.00994	0.2368:0.1292:0.1847:0.4493	.	139;139	Q96BF3-2;Q96BF3	.;TMIG2_HUMAN	I	139	ENSP00000301272:T139I	ENSP00000301272:T139I	T	-	2	0	TMIGD2	4245804	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-6.341000	0.00070	-2.379000	0.00595	0.549000	0.68633	ACA		0.592	TMIGD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458088.1	NM_144615		7	51	0	0	0	1	0	7	51				
MYO7A	4647	broad.mit.edu	37	11	76912672	76912672	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr11:76912672C>T	ENST00000409709.3	+	36	5304	c.5032C>T	c.(5032-5034)Cgg>Tgg	p.R1678W	MYO7A_ENST00000409619.2_Missense_Mutation_p.R1629W|MYO7A_ENST00000458637.2_Missense_Mutation_p.R1640W	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1678					actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)	p.R1678W(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CATGCCACCGCGGGAGATTGT	0.592																																						ENST00000409709.3																			1	Substitution - Missense(1)	p.R1678W(1)	prostate(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(5032-5034)Cgg>Tgg		myosin VIIA							52.0	56.0	55.0					11																	76912672		2099	4210	6309	SO:0001583	missense	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76912672C>T	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.5032C>T	11.37:g.76912672C>T	ENSP00000386331:p.Arg1678Trp					MYO7A_ENST00000409619.2_Missense_Mutation_p.R1629W|MYO7A_ENST00000458637.2_Missense_Mutation_p.R1640W	p.R1678W	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN			36	5304	+			1678					B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	c.5032C>T	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	C	11.86	1.764954	0.31228	.	.	ENSG00000137474	ENST00000409709;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000458169;ENST00000544424	T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34	4.58	0.232	0.15381	Src homology-3 domain (1);	0.337779	0.31554	N	0.007451	T	0.44829	0.1312	N	0.22421	0.69	0.09310	N	1	P;P;P	0.41420	0.48;0.749;0.701	B;B;B	0.39531	0.065;0.137;0.302	T	0.41052	-0.9530	10	0.66056	D	0.02	.	3.3207	0.07049	0.4517:0.3268:0.1103:0.1112	.	1629;1640;1678	B9A011;F8VUN5;Q13402	.;.;MYO7A_HUMAN	W	1678;1640;1629;851;1677;1647;1554;820;293	ENSP00000386331:R1678W;ENSP00000392185:R1640W;ENSP00000386635:R1629W;ENSP00000417017:R820W	ENSP00000345075:R1554W	R	+	1	2	MYO7A	76590320	0.000000	0.05858	0.176000	0.23000	0.949000	0.60115	-0.278000	0.08490	-0.113000	0.11958	0.561000	0.74099	CGG		0.592	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		10	53	0	0	0	1	0	10	53				
TTN	7273	broad.mit.edu	37	2	179604390	179604390	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr2:179604390C>G	ENST00000591111.1	-	46	12843	c.12619G>C	c.(12619-12621)Gtt>Ctt	p.V4207L	TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V4524L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V4353L|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Missense_Mutation_p.V4286L|TTN_ENST00000460472.2_Missense_Mutation_p.V4161L|TTN-AS1_ENST00000590773.1_RNA			Q8WZ42	TITIN_HUMAN	titin	0					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)			TTAGATTCAACTTCTGGTTCA	0.398																																						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.(13570-13572)Gtt>Ctt		titin							104.0	104.0	104.0					2																	179604390		1857	4100	5957	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179604390C>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.12619G>C	2.37:g.179604390C>G	ENSP00000465570:p.Val4207Leu					TTN_ENST00000591111.1_Missense_Mutation_p.V4207L|TTN_ENST00000342175.6_Missense_Mutation_p.V4353L|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V4161L|TTN_ENST00000359218.5_Missense_Mutation_p.V4286L|TTN_ENST00000342992.6_Intron	p.V4524L	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)		48	13794	-			4207			Ig-like 25.		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.13570G>C		.	.	.	.	.	.	.	.	.	.	C	4.968	0.179890	0.09443	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.61040	0.18;0.15;0.14	5.56	1.05	0.20165	.	.	.	.	.	T	0.40909	0.1136	L	0.34521	1.04	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.001;0.001;0.002	T	0.37150	-0.9718	9	0.87932	D	0	.	2.8275	0.05489	0.3275:0.314:0.0:0.3585	.	4161;4286;4353	D3DPF9;E7EQE6;E7ET18	.;.;.	L	4161;4353;4286;4161	ENSP00000434586:V4161L;ENSP00000340554:V4353L;ENSP00000352154:V4286L	ENSP00000340554:V4353L	V	-	1	0	TTN	179312635	0.239000	0.23836	0.111000	0.21465	0.379000	0.30106	0.727000	0.25999	0.182000	0.20032	-0.345000	0.07892	GTT		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	121	0	0	0	1	0	7	121				
MTMR8	55613	broad.mit.edu	37	X	63569920	63569920	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chrX:63569920C>A	ENST00000374852.3	-	5	566	c.499G>T	c.(499-501)Gtt>Ttt	p.V167F	MTMR8_ENST00000453546.1_Missense_Mutation_p.V167F	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	167	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						GATTTAGGAACCACTATTTCA	0.348																																						ENST00000374852.3																			1	Whole gene deletion(1)	p.0?(1)	ovary(1)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						c.(499-501)Gtt>Ttt		myotubularin related protein 8							107.0	91.0	96.0					X																	63569920		2203	4300	6503	SO:0001583	missense	55613					nuclear envelope	protein tyrosine phosphatase activity	g.chrX:63569920C>A	AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.499G>T	X.37:g.63569920C>A	ENSP00000363985:p.Val167Phe					MTMR8_ENST00000453546.1_Missense_Mutation_p.V167F	p.V167F	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN			5	566	-			167			Myotubularin phosphatase.		Q5JT99|Q9NXP6	Missense_Mutation	SNP	ENST00000374852.3	37	c.499G>T	CCDS14379.1	.	.	.	.	.	.	.	.	.	.	C	10.79	1.448651	0.26074	.	.	ENSG00000102043	ENST00000453546;ENST00000374852	D;D	0.95137	-3.62;-3.62	2.96	-1.87	0.07737	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.619232	0.12518	U	0.461935	D	0.96324	0.8801	H	0.96691	3.865	0.30123	N	0.805482	P;P	0.47350	0.823;0.894	P;P	0.48770	0.456;0.589	D	0.93075	0.6486	10	0.56958	D	0.05	.	8.5427	0.33402	0.0:0.4854:0.0:0.5146	.	167;167	B4DQL0;Q96EF0	.;MTMR8_HUMAN	F	167	ENSP00000394003:V167F;ENSP00000363985:V167F	ENSP00000363985:V167F	V	-	1	0	MTMR8	63486645	0.012000	0.17670	0.917000	0.36280	0.955000	0.61496	0.010000	0.13242	-0.480000	0.06803	0.513000	0.50165	GTT		0.348	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056949.2	NM_017677		15	88	1	0	7.07596e-05	1	7.47274e-05	15	88				
MEGF8	1954	broad.mit.edu	37	19	42880569	42880569	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr19:42880569G>T	ENST00000251268.6	+	42	8180	c.8180G>T	c.(8179-8181)cGc>cTc	p.R2727L	MEGF8_ENST00000334370.4_Missense_Mutation_p.R2660L|MEGF8_ENST00000378073.4_Missense_Mutation_p.R321L	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2727					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GCCTTCCGCCGCTCTGAGCCC	0.731																																						ENST00000334370.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(7978-7980)cGc>cTc		multiple EGF-like-domains 8							16.0	18.0	17.0					19																	42880569		2152	4221	6373	SO:0001583	missense	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42880569G>T	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.8180G>T	19.37:g.42880569G>T	ENSP00000251268:p.Arg2727Leu					MEGF8_ENST00000378073.4_Missense_Mutation_p.R321L|MEGF8_ENST00000251268.6_Missense_Mutation_p.R2727L	p.R2660L	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN			41	8614	+		Prostate(69;0.00682)	2727					A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37	c.7979G>T		.	.	.	.	.	.	.	.	.	.	G	16.95	3.264372	0.59431	.	.	ENSG00000105429	ENST00000334370;ENST00000251268;ENST00000378073	T;T	0.23147	1.92;1.92	3.9	3.9	0.45041	.	0.274240	0.27668	N	0.018355	T	0.17619	0.0423	N	0.16656	0.425	0.45129	D	0.998142	B;P;P	0.47253	0.022;0.799;0.892	B;B;P	0.44477	0.004;0.323;0.451	T	0.01635	-1.1307	10	0.62326	D	0.03	-32.6215	9.0892	0.36601	0.1039:0.0:0.8961:0.0	.	321;2727;2660	F5GZG7;Q7Z7M0;Q7Z7M0-2	.;MEGF8_HUMAN;.	L	2660;2727;321	ENSP00000334219:R2660L;ENSP00000251268:R2727L	ENSP00000251268:R2727L	R	+	2	0	MEGF8	47572409	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	1.405000	0.34635	2.208000	0.71279	0.462000	0.41574	CGC		0.731	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		3	17	1	0	0.00909568	1	0.00925957	3	17				
SCAP	22937	broad.mit.edu	37	3	47468956	47468956	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr3:47468956C>A	ENST00000265565.5	-	5	1024	c.612G>T	c.(610-612)caG>caT	p.Q204H	SCAP_ENST00000545718.1_Intron|SCAP_ENST00000441517.2_Intron	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	204					aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		TGGCTGAAGTCTGCAGGGTTT	0.522																																					Pancreas(149;978 1908 29304 37806 46700)	ENST00000265565.5																			0				endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26						c.(610-612)caG>caT		SREBF chaperone							158.0	132.0	141.0					3																	47468956		2203	4300	6503	SO:0001583	missense	22937				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding	g.chr3:47468956C>A	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"""WD repeat domain containing"""	30634	protein-coding gene	gene with protein product	"""SREBP cleavage activating protein"""	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.612G>T	3.37:g.47468956C>A	ENSP00000265565:p.Gln204His					SCAP_ENST00000441517.2_Intron|SCAP_ENST00000545718.1_Intron	p.Q204H	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)	5	1024	-			204					Q8N2E0|Q8WUA1	Missense_Mutation	SNP	ENST00000265565.5	37	c.612G>T	CCDS2755.2	.	.	.	.	.	.	.	.	.	.	C	13.19	2.163573	0.38217	.	.	ENSG00000114650	ENST00000339815;ENST00000265565	T	0.80304	-1.36	5.24	4.34	0.51931	.	0.128686	0.53938	N	0.000050	T	0.67590	0.2909	N	0.13043	0.29	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.62464	-0.6849	10	0.39692	T	0.17	-24.2681	15.3781	0.74630	0.0:0.86:0.14:0.0	.	204	Q12770	SCAP_HUMAN	H	204	ENSP00000265565:Q204H	ENSP00000265565:Q204H	Q	-	3	2	SCAP	47443960	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.035000	0.49759	1.379000	0.46325	0.655000	0.94253	CAG		0.522	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235		40	122	1	0	7.53189e-24	1	8.91208e-24	40	122				
ARHGEF2	9181	broad.mit.edu	37	1	155920659	155920659	+	Silent	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr1:155920659G>A	ENST00000361247.4	-	20	2763	c.2664C>T	c.(2662-2664)ccC>ccT	p.P888P	ARHGEF2_ENST00000313667.4_Silent_p.P887P|ARHGEF2_ENST00000462460.2_Silent_p.P933P|ARHGEF2_ENST00000368316.1_Silent_p.P860P|ARHGEF2_ENST00000313695.7_Silent_p.P860P|ARHGEF2_ENST00000368315.4_Silent_p.P889P|ARHGEF2_ENST00000477754.2_Intron	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	888					actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CATCGCCTGCGGGGAGGCTGC	0.672																																					Melanoma(178;35 2768 6610 28839)	ENST00000368316.1																			0				breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40						c.(2578-2580)ccC>ccT		Rho/Rac guanine nucleotide exchange factor (GEF) 2							41.0	46.0	44.0					1																	155920659		2202	4295	6497	SO:0001819	synonymous_variant	9181				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding	g.chr1:155920659G>A	AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	682	protein-coding gene	gene with protein product		607560	"""rho/rac guanine nucleotide exchange factor (GEF) 2"""			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.2664C>T	1.37:g.155920659G>A						ARHGEF2_ENST00000313667.4_Silent_p.P887P|ARHGEF2_ENST00000313695.7_Silent_p.P860P|ARHGEF2_ENST00000368315.3_Silent_p.P889P|ARHGEF2_ENST00000361247.4_Silent_p.P888P	p.P860P			Q92974	ARHG2_HUMAN			24	3050	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		888					D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Silent	SNP	ENST00000361247.4	37	c.2580C>T	CCDS53376.1																																																																																				0.672	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046204.2	NM_004723		42	53	0	0	0	1	0	42	53				
B4GALT7	11285	broad.mit.edu	37	5	177035995	177035995	+	Missense_Mutation	SNP	C	C	T	rs28937869		TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr5:177035995C>T	ENST00000029410.5	+	5	919	c.808C>T	c.(808-810)Cgc>Tgc	p.R270C	RP11-1277A3.1_ENST00000499900.2_RNA	NM_007255.2	NP_009186.1	Q9UBV7	B4GT7_HUMAN	xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7	270					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|chondroitin sulfate metabolic process (GO:0030204)|extracellular fibril organization (GO:0043206)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of fibroblast proliferation (GO:0048147)|protein N-linked glycosylation (GO:0006487)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|manganese ion binding (GO:0030145)|xylosylprotein 4-beta-galactosyltransferase activity (GO:0046525)			endometrium(2)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	7	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGACCAGAAGCGCATCGCAGC	0.597													C|||	0	0.0	0.0	0.0	5008	,	,		19177	0.0		0.0	False		,,,				2504	0.0					ENST00000029410.5																			0				endometrium(2)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	7	GRCh37	CM041675	B4GALT7	M	rs28937869	c.(808-810)Cgc>Tgc		xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7							58.0	56.0	56.0					5																	177035995		2203	4300	6503	SO:0001583	missense	11285				fibril organization|glycosaminoglycan biosynthetic process|negative regulation of fibroblast proliferation|protein modification process|proteoglycan metabolic process	Golgi cisterna membrane|integral to membrane	metal ion binding|xylosylprotein 4-beta-galactosyltransferase activity	g.chr5:177035995C>T	AB028600	CCDS4429.1	5q35.1-q35.3	2013-02-19	2012-07-18		ENSG00000027847	ENSG00000027847		"""Beta 4-glycosyltransferases"""	930	protein-coding gene	gene with protein product	"""galactosyltransferase I"""	604327				10438455, 10473568	Standard	NM_007255		Approved	XGALT-1, beta4Gal-T7	uc003mhy.3	Q9UBV7	OTTHUMG00000130851	ENST00000029410.5:c.808C>T	5.37:g.177035995C>T	ENSP00000029410:p.Arg270Cys						p.R270C	NM_007255.2	NP_009186.1	Q9UBV7	B4GT7_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	919	+	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	270					B3KN39|Q9UHN2	Missense_Mutation	SNP	ENST00000029410.5	37	c.808C>T	CCDS4429.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.502455	0.64298	.	.	ENSG00000027847	ENST00000029410;ENST00000541139	T	0.39406	1.08	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.62282	0.2415	M	0.84219	2.685	0.80722	A	1	D	0.89917	1.0	P	0.60286	0.872	T	0.74494	-0.3647	9	0.72032	D	0.01	-39.4059	12.0096	0.53280	0.1728:0.8272:0.0:0.0	rs28937869	270	Q9UBV7	B4GT7_HUMAN	C	270;156	ENSP00000029410:R270C	ENSP00000029410:R270C	R	+	1	0	B4GALT7	176968601	1.000000	0.71417	1.000000	0.80357	0.560000	0.35617	1.550000	0.36223	2.615000	0.88500	0.455000	0.32223	CGC		0.597	B4GALT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253421.1	NM_007255		10	44	0	0	0	1	0	10	44				
GPC2	221914	broad.mit.edu	37	7	99773975	99773975	+	Silent	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr7:99773975C>T	ENST00000292377.2	-	2	347	c.180G>A	c.(178-180)cgG>cgA	p.R60R	GPC2_ENST00000471050.1_5'Flank|STAG3_ENST00000317296.5_5'Flank|STAG3_ENST00000426455.1_5'Flank|STAG3_ENST00000394018.2_5'Flank	NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN	glypican 2	60					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuron differentiation (GO:0030182)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	anchored component of membrane (GO:0031225)|endoplasmic reticulum (GO:0005783)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGGGACAGACCCGGAGGTGCT	0.577																																						ENST00000292377.2																			0				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18						c.(178-180)cgG>cgA		glypican 2							74.0	62.0	66.0					7																	99773975		2203	4300	6503	SO:0001819	synonymous_variant	221914					anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr7:99773975C>T	BX375153	CCDS5689.1	7q22.1	2007-02-16	2007-02-15		ENSG00000213420	ENSG00000213420		"""Proteoglycans / Cell Surface : Glypicans"""	4450	protein-coding gene	gene with protein product	"""glypican proteoglycan 2, cerebroglycan proteoglycan"""		"""glypican 2 (cerebroglycan)"""			8294498	Standard	NM_152742		Approved	cerebroglycan, FLJ38962, DKFZp547M109	uc003utv.3	Q8N158	OTTHUMG00000154894	ENST00000292377.2:c.180G>A	7.37:g.99773975C>T							p.R60R	NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN			2	347	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		60					A4D2A7	Silent	SNP	ENST00000292377.2	37	c.180G>A	CCDS5689.1																																																																																				0.577	GPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337556.1	NM_152742		12	43	0	0	0	1	0	12	43				
TET2	54790	broad.mit.edu	37	4	106157590	106157590	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr4:106157590C>T	ENST00000540549.1	+	3	3351	c.2491C>T	c.(2491-2493)Cag>Tag	p.Q831*	TET2_ENST00000545826.1_Nonsense_Mutation_p.Q831*|TET2_ENST00000413648.2_Nonsense_Mutation_p.Q831*|TET2_ENST00000394764.1_Nonsense_Mutation_p.Q831*|TET2_ENST00000305737.2_Nonsense_Mutation_p.Q831*|TET2_ENST00000380013.4_Nonsense_Mutation_p.Q831*|TET2_ENST00000513237.1_Nonsense_Mutation_p.Q852*			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	831	Gln-rich.				5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		ATGCAAAATACAGGTTTCTTG	0.378			"""Mis N, F"""		MDS																																	ENST00000513237.1				Rec	yes		4	4q24	54790	"""Mis N, F"""	tet oncogene family member 2			L			MDS		0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314						c.(2554-2556)Cag>Tag		tet methylcytosine dioxygenase 2							56.0	57.0	57.0					4																	106157590		2203	4300	6503	SO:0001587	stop_gained	54790				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr4:106157590C>T	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.2491C>T	4.37:g.106157590C>T	ENSP00000442788:p.Gln831*					TET2_ENST00000394764.1_Nonsense_Mutation_p.Q831*|TET2_ENST00000545826.1_Nonsense_Mutation_p.Q831*|TET2_ENST00000305737.2_Nonsense_Mutation_p.Q831*|TET2_ENST00000540549.1_Nonsense_Mutation_p.Q831*|TET2_ENST00000413648.2_Nonsense_Mutation_p.Q831*|TET2_ENST00000380013.4_Nonsense_Mutation_p.Q831*	p.Q852*			Q6N021	TET2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	3	3351	+		Myeloproliferative disorder(5;0.0393)	831			Gln-rich.		B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Nonsense_Mutation	SNP	ENST00000540549.1	37	c.2554C>T	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	C	37	6.205602	0.97376	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	13.1229	0.59338	0.2799:0.7201:0.0:0.0	.	.	.	.	X	831;831;831;852;831;831;831	.	ENSP00000265149:Q831X	Q	+	1	0	TET2	106377039	0.990000	0.36364	0.065000	0.19835	0.070000	0.16714	2.105000	0.41825	2.624000	0.88883	0.655000	0.94253	CAG		0.378	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		11	54	0	0	0	1	0	11	54				
ACLY	47	broad.mit.edu	37	17	40042444	40042444	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr17:40042444C>T	ENST00000352035.2	-	18	2123	c.1993G>A	c.(1993-1995)Ggc>Agc	p.G665S	ACLY_ENST00000353196.1_Missense_Mutation_p.G655S|ACLY_ENST00000537919.1_Missense_Mutation_p.G394S|ACLY_ENST00000393896.2_Missense_Mutation_p.G655S|ACLY_ENST00000590151.1_Missense_Mutation_p.G665S	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	665					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				TTGGACATGCCTCCGGAACGT	0.567																																					Colon(64;807 1396 15971 30971)	ENST00000352035.2																		NTN1/ACLY(2)	0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(1993-1995)Ggc>Agc		ATP citrate lyase							203.0	176.0	185.0					17																	40042444		2203	4300	6503	SO:0001583	missense	47				ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	g.chr17:40042444C>T	X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"""ATP citrate synthase"""	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.1993G>A	17.37:g.40042444C>T	ENSP00000253792:p.Gly665Ser					ACLY_ENST00000590151.1_Missense_Mutation_p.G665S|ACLY_ENST00000353196.1_Missense_Mutation_p.G655S|ACLY_ENST00000393896.2_Missense_Mutation_p.G655S|ACLY_ENST00000537919.1_Missense_Mutation_p.G394S	p.G665S	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN			18	2123	-		Breast(137;0.000143)	665					B4DIM0|B4E3P0|Q13037|Q9BRL0	Missense_Mutation	SNP	ENST00000352035.2	37	c.1993G>A	CCDS11412.1	.	.	.	.	.	.	.	.	.	.	C	36	5.677626	0.96764	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000537919;ENST00000393896	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	5.69	5.69	0.88448	Succinyl-CoA synthetase-like (1);Citrate synthase-like, core (1);ATP-citrate lyase/succinyl-CoA ligase (1);	0.000000	0.85682	D	0.000000	D	0.90208	0.6939	M	0.88640	2.97	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.91539	0.5248	10	0.87932	D	0	.	18.0517	0.89351	0.0:1.0:0.0:0.0	.	394;709;719;655;665	B4E3P0;B4DIM0;E7ENH9;G3XAI4;P53396	.;.;.;.;ACLY_HUMAN	S	665;719;655;394;655	ENSP00000253792:G665S;ENSP00000345398:G655S;ENSP00000445349:G394S;ENSP00000377474:G655S	ENSP00000253792:G665S	G	-	1	0	ACLY	37295970	1.000000	0.71417	0.999000	0.59377	0.906000	0.53458	7.770000	0.85390	2.701000	0.92244	0.558000	0.71614	GGC		0.567	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	NM_001096		43	193	0	0	0	1	0	43	193				
AGO2	27161	broad.mit.edu	37	8	141572716	141572716	+	Silent	SNP	C	C	T	rs377556379		TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr8:141572716C>T	ENST00000220592.5	-	4	466	c.354G>A	c.(352-354)acG>acA	p.T118T	AGO2_ENST00000519980.1_Silent_p.T118T	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	118					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)										CTCCTGGCAGCGTGACCTCCA	0.607																																						ENST00000220592.5																			0											c.(352-354)acG>acA		argonaute RISC catalytic component 2							168.0	126.0	140.0					8																	141572716		2203	4300	6503	SO:0001819	synonymous_variant	27161							g.chr8:141572716C>T	AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"""Argonaute/PIWI family"""	3263	protein-coding gene	gene with protein product	"""argonaute 2"""	606229	"""eukaryotic translation initiation factor 2C, 2"""	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.354G>A	8.37:g.141572716C>T						AGO2_ENST00000519980.1_Silent_p.T118T	p.T118T	NM_012154.3	NP_036286.2					4	466	-								Q8TCZ5|Q8WV58|Q96ID1	Silent	SNP	ENST00000220592.5	37	c.354G>A	CCDS6380.1																																																																																				0.607	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377866.4			28	135	0	0	0	1	0	28	135				
FN3KRP	79672	broad.mit.edu	37	17	80680699	80680699	+	Silent	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr17:80680699G>A	ENST00000269373.6	+	4	478	c.405G>A	c.(403-405)gaG>gaA	p.E135E	FN3KRP_ENST00000535965.1_Silent_p.E85E	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	135							kinase activity (GO:0016301)			breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			GTGGGCAGGAGGAACGGCCCT	0.532																																						ENST00000269373.6																			0				breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7						c.(403-405)gaG>gaA		fructosamine 3 kinase related protein							204.0	172.0	183.0					17																	80680699		2203	4300	6503	SO:0001819	synonymous_variant	79672						kinase activity	g.chr17:80680699G>A	AY360465	CCDS11817.1	17q25.3	2014-08-12			ENSG00000141560	ENSG00000141560			25700	protein-coding gene	gene with protein product		611683				14633848	Standard	NM_024619		Approved	FLJ12171, FN3KL	uc002kfu.3	Q9HA64	OTTHUMG00000177846	ENST00000269373.6:c.405G>A	17.37:g.80680699G>A						FN3KRP_ENST00000535965.1_Silent_p.E85E	p.E135E	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)		4	478	+	Breast(20;0.000523)|all_neural(118;0.0952)		135					Q969F4|Q9H0U7	Silent	SNP	ENST00000269373.6	37	c.405G>A	CCDS11817.1																																																																																				0.532	FN3KRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439219.1	NM_024619		11	56	0	0	0	1	0	11	56				
COL22A1	169044	broad.mit.edu	37	8	139626142	139626142	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr8:139626142G>T	ENST00000303045.6	-	56	4392	c.3946C>A	c.(3946-3948)Cca>Aca	p.P1316T	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.P1296T	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1316	Collagen-like 13.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGACCCTGTGGCCCAGTGGGT	0.478										HNSCC(7;0.00092)																												ENST00000303045.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(3946-3948)Cca>Aca		collagen, type XXII, alpha 1							119.0	125.0	123.0					8																	139626142		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139626142G>T	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.3946C>A	8.37:g.139626142G>T	ENSP00000303153:p.Pro1316Thr	HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Missense_Mutation_p.P1296T|COL22A1_ENST00000341807.4_5'UTR	p.P1316T	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		56	4392	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1316			Collagen-like 13.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.3946C>A	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.241801	0.39598	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.96651	-4.08;-4.08	4.75	4.75	0.60458	.	0.000000	0.49916	D	0.000133	D	0.97043	0.9034	M	0.83852	2.665	0.44439	D	0.997362	B;D	0.56746	0.192;0.977	B;P	0.57057	0.151;0.812	D	0.95768	0.8806	10	0.15499	T	0.54	.	13.1056	0.59246	0.0:0.0:1.0:0.0	.	1296;1316	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	T	1316;1296;1009	ENSP00000303153:P1316T;ENSP00000387655:P1296T	ENSP00000303153:P1316T	P	-	1	0	COL22A1	139695324	0.995000	0.38212	0.891000	0.34965	0.812000	0.45895	4.510000	0.60455	2.446000	0.82766	0.555000	0.69702	CCA		0.478	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		20	174	1	0	1.2644e-06	1	1.37382e-06	20	174				
OR2M5	127059	broad.mit.edu	37	1	248308964	248308964	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr1:248308964G>A	ENST00000366476.1	+	1	515	c.515G>A	c.(514-516)cGg>cAg	p.R172Q		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	172						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TGTGGGTCTCGGGAAATAGCC	0.428																																						ENST00000366476.1																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49						c.(514-516)cGg>cAg		olfactory receptor, family 2, subfamily M, member 5							281.0	265.0	271.0					1																	248308964		2203	4298	6501	SO:0001583	missense	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248308964G>A		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.515G>A	1.37:g.248308964G>A	ENSP00000355432:p.Arg172Gln						p.R172Q	NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		1	515	+	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)		172						Missense_Mutation	SNP	ENST00000366476.1	37	c.515G>A	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	g	15.78	2.935487	0.52866	.	.	ENSG00000162727	ENST00000366476	T	0.00044	8.83	3.28	-0.741	0.11112	GPCR, rhodopsin-like superfamily (1);	0.298455	0.18176	U	0.149296	T	0.00109	0.0003	L	0.47078	1.49	0.09310	N	1	B	0.31519	0.327	B	0.32583	0.148	T	0.32640	-0.9899	10	0.52906	T	0.07	.	2.3182	0.04204	0.3221:0.0:0.272:0.406	.	172	A3KFT3	OR2M5_HUMAN	Q	172	ENSP00000355432:R172Q	ENSP00000355432:R172Q	R	+	2	0	OR2M5	246375587	0.000000	0.05858	0.004000	0.12327	0.873000	0.50193	1.125000	0.31332	0.031000	0.15407	0.492000	0.49549	CGG		0.428	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		5	389	0	0	0	1	0	5	389				
RBM33	155435	broad.mit.edu	37	7	155534637	155534637	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr7:155534637G>A	ENST00000401878.3	+	13	2372	c.2174G>A	c.(2173-2175)cGc>cAc	p.R725H		NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	725							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		AGCAGCAGCCGCTGCTCTGCC	0.592																																						ENST00000401878.3																			0				breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27						c.(2173-2175)cGc>cAc		RNA binding motif protein 33							86.0	86.0	86.0					7																	155534637		2203	4300	6503	SO:0001583	missense	155435						nucleotide binding|RNA binding	g.chr7:155534637G>A	AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"""RNA binding motif (RRM) containing"""	27223	protein-coding gene	gene with protein product			"""proline rich 8"""	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.2174G>A	7.37:g.155534637G>A	ENSP00000384160:p.Arg725His						p.R725H	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)	13	2372	+	all_neural(206;0.101)	all_hematologic(28;0.0592)	725					A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Missense_Mutation	SNP	ENST00000401878.3	37	c.2174G>A	CCDS5941.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.82|13.82	2.352566|2.352566	0.41700|0.41700	.|.	.|.	ENSG00000184863|ENSG00000184863	ENST00000392761|ENST00000401878	.|T	.|0.54071	.|0.59	5.88|5.88	4.99|4.99	0.66335|0.66335	.|.	.|0.000000	.|0.64402	.|D	.|0.000006	T|T	0.46268|0.46268	0.1384|0.1384	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	.|B;P	.|0.47545	.|0.333;0.897	.|B;B	.|0.38156	.|0.061;0.266	T|T	0.47649|0.47649	-0.9101|-0.9101	5|10	.|0.38643	.|T	.|0.18	.|.	12.653|12.653	0.56772|0.56772	0.1303:0.0:0.8697:0.0|0.1303:0.0:0.8697:0.0	.|.	.|442;725	.|B4DVQ2;Q96EV2	.|.;RBM33_HUMAN	T|H	497|725	.|ENSP00000384160:R725H	.|ENSP00000384160:R725H	A|R	+|+	1|2	0|0	RBM33|RBM33	155227398|155227398	0.986000|0.986000	0.35501|0.35501	0.658000|0.658000	0.29665|0.29665	0.229000|0.229000	0.25112|0.25112	4.196000|4.196000	0.58407|0.58407	2.790000|2.790000	0.95986|0.95986	0.591000|0.591000	0.81541|0.81541	GCT|CGC		0.592	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317225.3	NM_001008408		4	136	0	0	0	1	0	4	136				
PIK3CA	5290	broad.mit.edu	37	3	178938934	178938934	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr3:178938934G>A	ENST00000263967.3	+	14	2333	c.2176G>A	c.(2176-2178)Gaa>Aaa	p.E726K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	726			E -> K (in MCAP). {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.E726K(8)		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)	GAAGAAGGATGAAACACAAAA	0.428		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		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		8	Substitution - Missense(8)	p.E726K(8)	lung(4)|large_intestine(2)|breast(2)	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.(2176-2178)Gaa>Aaa		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							89.0	78.0	82.0					3																	178938934		1917	4118	6035	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.chr3:178938934G>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.2176G>A	3.37:g.178938934G>A	ENSP00000263967:p.Glu726Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E726K	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)		14	2333	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		726					Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.2176G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.308869	0.60305	.	.	ENSG00000121879	ENST00000263967	T	0.80653	-1.4	5.67	5.67	0.87782	Protein kinase-like domain (1);	0.166180	0.38778	U	0.001568	T	0.73450	0.3588	L	0.36672	1.1	0.80722	D	1	P	0.46064	0.872	B	0.42738	0.396	T	0.71401	-0.4604	10	0.02654	T	1	-19.3819	19.7612	0.96319	0.0:0.0:1.0:0.0	.	726	P42336	PK3CA_HUMAN	K	726	ENSP00000263967:E726K	ENSP00000263967:E726K	E	+	1	0	PIK3CA	180421628	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	9.476000	0.97823	2.670000	0.90874	0.655000	0.94253	GAA		0.428	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			13	64	0	0	0	1	0	13	64				
SEPT3	55964	broad.mit.edu	37	22	42390637	42390637	+	Silent	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr22:42390637G>A	ENST00000396426.3	+	10	1185	c.930G>A	c.(928-930)caG>caA	p.Q310Q	SEPT3_ENST00000396425.3_Silent_p.Q310Q|SEPT3_ENST00000406029.1_Silent_p.Q246Q|SEPT3_ENST00000328414.8_3'UTR|SEPT3_ENST00000291236.11_Silent_p.Q246Q	NM_145733.2	NP_663786.2	Q9UH03	SEPT3_HUMAN	septin 3	310	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	cell junction (GO:0030054)|septin complex (GO:0031105)|synapse (GO:0045202)	GTP binding (GO:0005525)			breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						CCCACCTCCAGGACCTCAAGG	0.577																																						ENST00000396425.3																			0				breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						c.(928-930)caG>caA		septin 3							122.0	99.0	107.0					22																	42390637		2203	4300	6503	SO:0001819	synonymous_variant	55964				cell cycle|cytokinesis	cell junction|septin complex	GTP binding	g.chr22:42390637G>A	AF285107	CCDS14026.2, CCDS14027.2	22q13.2	2013-01-21			ENSG00000100167	ENSG00000100167		"""Septins"""	10750	protein-coding gene	gene with protein product		608314		SEP3			Standard	NM_019106		Approved		uc003bbr.4	Q9UH03	OTTHUMG00000030494	ENST00000396426.3:c.930G>A	22.37:g.42390637G>A						SEPT3_ENST00000291236.11_Silent_p.Q246Q|SEPT3_ENST00000406029.1_Silent_p.Q246Q|SEPT3_ENST00000396426.3_Silent_p.Q310Q|SEPT3_ENST00000328414.8_3'UTR	p.Q310Q	NM_019106.5	NP_061979.3	Q9UH03	SEPT3_HUMAN			10	1061	+			310					B1AHR0|Q2NKJ7|Q59GF7|Q6IBZ6|Q8N3P3|Q9HD35	Silent	SNP	ENST00000396426.3	37	c.930G>A	CCDS14026.2																																																																																				0.577	SEPT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322051.1	NM_145734		16	69	0	0	0	1	0	16	69				
DNHD1	144132	broad.mit.edu	37	11	6524004	6524004	+	Silent	SNP	T	T	C			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr11:6524004T>C	ENST00000527990.2	+	2	768	c.768T>C	c.(766-768)gtT>gtC	p.V256V	DNHD1_ENST00000354685.3_Silent_p.V256V|DNHD1_ENST00000254579.6_Silent_p.V256V			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	256					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ACTATGAAGTTCCCAGGGAAA	0.498																																						ENST00000254579.6																			0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55						c.(766-768)gtT>gtC		dynein heavy chain domain 1							88.0	75.0	79.0					11																	6524004		2201	4296	6497	SO:0001819	synonymous_variant	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6524004T>C	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.768T>C	11.37:g.6524004T>C						DNHD1_ENST00000354685.3_Silent_p.V256V|DNHD1_ENST00000527990.2_Silent_p.V256V	p.V256V	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	4	1332	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	256					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Silent	SNP	ENST00000527990.2	37	c.768T>C	CCDS44532.1																																																																																				0.498	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		5	52	0	0	0	1	0	5	52				
SCUBE2	57758	broad.mit.edu	37	11	9068965	9068965	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr11:9068965C>A	ENST00000309263.3	-	15	1925	c.1853G>T	c.(1852-1854)aGa>aTa	p.R618I	RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000520467.1_Missense_Mutation_p.R647I|SCUBE2_ENST00000450649.2_Missense_Mutation_p.R492I|SCUBE2_ENST00000457346.2_Missense_Mutation_p.R647I			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	618						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		TTCAGATGTTCTGGGAGGCTT	0.562																																						ENST00000457346.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(1939-1941)aGa>aTa		signal peptide, CUB domain, EGF-like 2							91.0	83.0	86.0					11																	9068965		2201	4296	6497	SO:0001583	missense	57758					extracellular region	calcium ion binding	g.chr11:9068965C>A	AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.1853G>T	11.37:g.9068965C>A	ENSP00000310658:p.Arg618Ile					RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000450649.2_Missense_Mutation_p.R492I|SCUBE2_ENST00000309263.3_Missense_Mutation_p.R618I|SCUBE2_ENST00000520467.1_Missense_Mutation_p.R647I	p.R647I			Q9NQ36	SCUB2_HUMAN		all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)	16	2014	-			618					Q2NKQ8|Q6ZWI1	Missense_Mutation	SNP	ENST00000309263.3	37	c.1940G>T		.	.	.	.	.	.	.	.	.	.	C	13.86	2.362006	0.41902	.	.	ENSG00000175356	ENST00000457346;ENST00000309263;ENST00000450649;ENST00000520467	T;T;D;T	0.84370	-1.25;-1.35;-1.84;-1.43	5.37	4.46	0.54185	.	0.154041	0.56097	D	0.000029	D	0.84804	0.5553	L	0.53249	1.67	0.58432	D	0.999991	D;B;B	0.53151	0.958;0.107;0.195	P;B;B	0.51135	0.66;0.18;0.088	T	0.81929	-0.0708	10	0.26408	T	0.33	.	11.1244	0.48308	0.0:0.8391:0.0:0.1609	.	492;647;618	Q9NQ36-3;Q9NQ36-2;Q9NQ36	.;.;SCUB2_HUMAN	I	647;618;492;647	ENSP00000390481:R647I;ENSP00000310658:R618I;ENSP00000415187:R492I;ENSP00000429969:R647I	ENSP00000310658:R618I	R	-	2	0	SCUBE2	9025541	0.018000	0.18449	0.460000	0.27093	0.955000	0.61496	1.164000	0.31810	1.269000	0.44280	0.655000	0.94253	AGA		0.562	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000385812.2	NM_020974		9	62	1	0	3.09899e-07	1	3.41644e-07	9	62				
AK5	26289	broad.mit.edu	37	1	77752659	77752659	+	Missense_Mutation	SNP	G	G	A	rs377289573		TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr1:77752659G>A	ENST00000354567.2	+	2	357	c.94G>A	c.(94-96)Gaa>Aaa	p.E32K	AK5_ENST00000317704.4_3'UTR|AK5_ENST00000344720.5_Missense_Mutation_p.E6K	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	32					ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						TTCTAAGCCCGAAGATCCAGT	0.333													G|||	1	0.000199681	0.0	0.0	5008	,	,		15042	0.001		0.0	False		,,,				2504	0.0					ENST00000344720.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						c.(16-18)Gaa>Aaa		adenylate kinase 5		G	LYS/GLU,LYS/GLU	0,4406		0,0,2203	77.0	80.0	79.0		16,94	5.6	1.0	1		79	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	AK5	NM_012093.3,NM_174858.2	56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	6/537,32/563	77752659	1,13005	2203	4300	6503	SO:0001583	missense	26289				ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity	g.chr1:77752659G>A	AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"""Adenylate kinases"""	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.94G>A	1.37:g.77752659G>A	ENSP00000346577:p.Glu32Lys					AK5_ENST00000354567.2_Missense_Mutation_p.E32K|AK5_ENST00000317704.4_3'UTR	p.E6K	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN			2	1042	+			32					Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Missense_Mutation	SNP	ENST00000354567.2	37	c.16G>A	CCDS675.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.611641	0.87258	0.0	1.16E-4	ENSG00000154027	ENST00000354567;ENST00000344720;ENST00000478407	T;T;D	0.84370	-1.29;-0.74;-1.84	5.59	5.59	0.84812	Dpy-30 motif (1);cAMP-dependent protein kinase, regulatory subunit, type I/II alpha/beta (1);	0.055310	0.64402	D	0.000001	D	0.86033	0.5836	M	0.74881	2.28	0.80722	D	1	D;D	0.57571	0.98;0.963	P;B	0.47044	0.535;0.339	D	0.86814	0.2000	10	0.54805	T	0.06	-26.724	19.9742	0.97299	0.0:0.0:1.0:0.0	.	32;32	Q9Y6K8;Q8N291	KAD5_HUMAN;.	K	32;6;6	ENSP00000346577:E32K;ENSP00000341430:E6K;ENSP00000434409:E6K	ENSP00000341430:E6K	E	+	1	0	AK5	77525247	1.000000	0.71417	0.969000	0.41365	0.443000	0.32047	9.406000	0.97321	2.809000	0.96659	0.650000	0.86243	GAA		0.333	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026993.4	NM_174858		11	63	0	0	0	1	0	11	63				
DYRK1A	1859	broad.mit.edu	37	21	38862527	38862527	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr21:38862527G>T	ENST00000398960.2	+	6	790	c.715G>T	c.(715-717)Gaa>Taa	p.E239*	DYRK1A_ENST00000338785.3_Nonsense_Mutation_p.E239*|DYRK1A_ENST00000455387.2_Nonsense_Mutation_p.E11*|DYRK1A_ENST00000339659.4_Nonsense_Mutation_p.E230*|DYRK1A_ENST00000398956.2_Nonsense_Mutation_p.E239*|DYRK1A_ENST00000451934.1_Nonsense_Mutation_p.E239*|DYRK1A_ENST00000321219.8_Nonsense_Mutation_p.E239*	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	239	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				circadian rhythm (GO:0007623)|mitotic cell cycle (GO:0000278)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|nervous system development (GO:0007399)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of protein deacetylation (GO:0090312)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|tau protein binding (GO:0048156)			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						TTTAGTTTTTGAAATGCTGTC	0.378																																					Melanoma(114;464 1602 31203 43785 45765)	ENST00000339659.3																			0				breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(688-690)Gaa>Taa		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A							67.0	70.0	69.0					21																	38862527		2203	4299	6502	SO:0001587	stop_gained	1859				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity	g.chr21:38862527G>T	U52373	CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1	21q22.13	2010-04-21			ENSG00000157540	ENSG00000157540			3091	protein-coding gene	gene with protein product		600855		DYRK1, DYRK, MNBH		9284911	Standard	NM_130436		Approved		uc002ywk.3	Q13627	OTTHUMG00000086657	ENST00000398960.2:c.715G>T	21.37:g.38862527G>T	ENSP00000381932:p.Glu239*					DYRK1A_ENST00000338785.3_Nonsense_Mutation_p.E239*|DYRK1A_ENST00000398956.2_Nonsense_Mutation_p.E239*|DYRK1A_ENST00000451934.1_Nonsense_Mutation_p.E239*|DYRK1A_ENST00000455387.2_Nonsense_Mutation_p.E11*|DYRK1A_ENST00000398960.2_Nonsense_Mutation_p.E239*|DYRK1A_ENST00000321219.8_Nonsense_Mutation_p.E239*	p.E230*	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN			6	2158	+			239			Protein kinase.		O60769|Q92582|Q92810|Q9UNM5	Nonsense_Mutation	SNP	ENST00000398960.2	37	c.688G>T	CCDS42925.1	.	.	.	.	.	.	.	.	.	.	G	50	17.244555	0.99882	.	.	ENSG00000157540	ENST00000338785;ENST00000339659;ENST00000321219;ENST00000451934;ENST00000398960;ENST00000398956;ENST00000455387	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.0404	0.97587	0.0:0.0:1.0:0.0	.	.	.	.	X	239;230;239;239;239;239;11	.	ENSP00000319032:E239X	E	+	1	0	DYRK1A	37784397	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.688000	0.98670	2.734000	0.93682	0.573000	0.79308	GAA		0.378	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194804.1	NM_001396		11	57	1	0	1.08611e-07	1	1.20324e-07	11	57				
TMC7	79905	broad.mit.edu	37	16	19033066	19033066	+	Silent	SNP	G	G	A	rs111625310		TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr16:19033066G>A	ENST00000304381.5	+	4	706	c.576G>A	c.(574-576)acG>acA	p.T192T	TMC7_ENST00000569532.1_Silent_p.T192T|TMC7_ENST00000421369.3_Silent_p.T82T	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	192					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						TCTTACTCACGAAATACAAGA	0.418																																						ENST00000421369.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						c.(244-246)acG>acA		transmembrane channel-like 7							166.0	137.0	147.0					16																	19033066		2197	4300	6497	SO:0001819	synonymous_variant	79905					integral to membrane		g.chr16:19033066G>A	AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.576G>A	16.37:g.19033066G>A						TMC7_ENST00000569532.1_Silent_p.T192T|TMC7_ENST00000304381.5_Silent_p.T192T	p.T82T	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN			4	804	+			192					E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Silent	SNP	ENST00000304381.5	37	c.246G>A	CCDS10573.1																																																																																				0.418	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254276.3	NM_024847		11	58	0	0	0	1	0	11	58				
GATA6	2627	broad.mit.edu	37	18	19780729	19780729	+	Silent	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr18:19780729G>A	ENST00000269216.3	+	7	2008	c.1731G>A	c.(1729-1731)ccG>ccA	p.P577P	GATA6_ENST00000581694.1_Silent_p.P577P|RP11-627G18.1_ENST00000583442.1_RNA	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	577					blood coagulation (GO:0007596)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cellular response to BMP stimulus (GO:0071773)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to hypoxia (GO:0071456)|Clara cell differentiation (GO:0060486)|endodermal cell fate determination (GO:0007493)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|liver development (GO:0001889)|lung saccule development (GO:0060430)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta1 production (GO:0032911)|negative regulation of transforming growth factor beta2 production (GO:0032912)|organ formation (GO:0048645)|outflow tract septum morphogenesis (GO:0003148)|pancreatic A cell differentiation (GO:0003310)|phospholipid metabolic process (GO:0006644)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to growth factor (GO:0070848)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)|tube morphogenesis (GO:0035239)|type B pancreatic cell differentiation (GO:0003309)|Type II pneumocyte differentiation (GO:0060510)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			TCGCCTCGCCGGCCGAAGTCA	0.677																																					Colon(8;48 282 46199 46856)|Melanoma(177;170 2725 12489 26999)	ENST00000269216.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18						c.(1729-1731)ccG>ccA		GATA binding protein 6																																				SO:0001819	synonymous_variant	2627				blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr18:19780729G>A	U66075	CCDS11872.1	18q11-q12	2013-01-25	2001-11-28		ENSG00000141448	ENSG00000141448		"""GATA zinc finger domain containing"""	4174	protein-coding gene	gene with protein product		601656	"""GATA-binding protein 6"""			8975704	Standard	XM_005258248		Approved		uc002ktt.2	Q92908	OTTHUMG00000131767	ENST00000269216.3:c.1731G>A	18.37:g.19780729G>A						GATA6_ENST00000581694.1_Silent_p.P577P|RP11-627G18.1_ENST00000583442.1_RNA	p.P577P	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	STAD - Stomach adenocarcinoma(5;0.106)		7	2008	+	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		577					B0YJ17|P78327	Silent	SNP	ENST00000269216.3	37	c.1731G>A	CCDS11872.1																																																																																				0.677	GATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254696.1	NM_005257		4	64	0	0	0	1	0	4	64				
PARP10	84875	broad.mit.edu	37	8	145059674	145059674	+	Silent	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr8:145059674C>T	ENST00000313028.7	-	4	673	c.579G>A	c.(577-579)ctG>ctA	p.L193L	PARP10_ENST00000524918.1_Silent_p.L193L|PARP10_ENST00000525773.1_Silent_p.L205L|PARP10_ENST00000533665.1_5'UTR	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	193	Poly-Leu.				negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCTCATTCTCCAGGTACAACT	0.677																																						ENST00000313028.7																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27						c.(577-579)ctG>ctA		poly (ADP-ribose) polymerase family, member 10							29.0	33.0	31.0					8																	145059674		2202	4299	6501	SO:0001819	synonymous_variant	84875					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding	g.chr8:145059674C>T	AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685		"""Poly (ADP-ribose) polymerases"""	25895	protein-coding gene	gene with protein product		609564				15273990	Standard	NM_032789		Approved	FLJ14464	uc003zal.4	Q53GL7		ENST00000313028.7:c.579G>A	8.37:g.145059674C>T						PARP10_ENST00000533665.1_5'UTR|PARP10_ENST00000524918.1_Silent_p.L193L|PARP10_ENST00000525773.1_Silent_p.L205L	p.L193L	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		4	673	-	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		193			Poly-Leu.		Q8N2I0|Q8WV05|Q96CH7|Q96K72	Silent	SNP	ENST00000313028.7	37	c.579G>A	CCDS34960.1																																																																																				0.677	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383866.1	NM_032789		10	55	0	0	0	1	0	10	55				
MUC16	94025	broad.mit.edu	37	19	9070969	9070969	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr19:9070969T>C	ENST00000397910.4	-	3	16680	c.16477A>G	c.(16477-16479)Agc>Ggc	p.S5493G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5495	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						TCAGACGTGCTGCTCTCCCTC	0.483																																						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.(16477-16479)Agc>Ggc		mucin 16, cell surface associated							123.0	122.0	122.0					19																	9070969		2029	4184	6213	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9070969T>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.16477A>G	19.37:g.9070969T>C	ENSP00000381008:p.Ser5493Gly						p.S5493G	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	16680	-			5495			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.16477A>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	3.640	-0.073736	0.07184	.	.	ENSG00000181143	ENST00000397910	T	0.02606	4.23	1.95	0.909	0.19332	.	.	.	.	.	T	0.02533	0.0077	L	0.32530	0.975	.	.	.	B	0.16166	0.016	B	0.15484	0.013	T	0.33574	-0.9863	8	0.87932	D	0	.	3.6941	0.08357	0.0:0.2035:0.0:0.7965	.	5493	B5ME49	.	G	5493	ENSP00000381008:S5493G	ENSP00000381008:S5493G	S	-	1	0	MUC16	8931969	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	1.080000	0.30779	0.205000	0.20568	0.255000	0.18592	AGC		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		13	88	0	0	0	1	0	13	88				
NAA35	60560	broad.mit.edu	37	9	88622379	88622379	+	Splice_Site	SNP	A	A	C			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr9:88622379A>C	ENST00000361671.5	+	14	1356	c.1223A>C	c.(1222-1224)aAg>aCg	p.K408T		NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	408					negative regulation of apoptotic process (GO:0043066)|smooth muscle cell proliferation (GO:0048659)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						CTTTCCCCCAAGTAAGTATTG	0.408																																						ENST00000361671.5																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						c.e14+1		N(alpha)-acetyltransferase 35, NatC auxiliary subunit							130.0	122.0	125.0					9																	88622379		2203	4300	6503	SO:0001630	splice_region_variant	60560				smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane		g.chr9:88622379A>C	AK025266	CCDS6673.1	9q22.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000135040	ENSG00000135040		"""N(alpha)-acetyltransferase subunits"""	24340	protein-coding gene	gene with protein product			"""MAK10 homolog, amino-acid N-acetyltransferase subunit (S. cerevisiae)"""	MAK10		14702039, 19660095	Standard	NM_024635		Approved	FLJ21613, FLJ22643, bA379P1.1	uc004aoi.4	Q5VZE5	OTTHUMG00000020131	ENST00000361671.5:c.1223+1A>C	9.37:g.88622379A>C							p.K408_splice	NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN			14	1356	+			408					Q5VZE6|Q9H631|Q9H703	Splice_Site	SNP	ENST00000361671.5	37	c.1223_splice	CCDS6673.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.567220	0.86439	.	.	ENSG00000135040	ENST00000361671	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.57080	0.2029	L	0.49350	1.555	0.80722	D	1	B	0.29612	0.251	B	0.30943	0.122	T	0.53704	-0.8401	9	0.20519	T	0.43	-12.9619	15.8059	0.78506	1.0:0.0:0.0:0.0	.	408	Q5VZE5	NAA35_HUMAN	T	408	.	ENSP00000354972:K408T	K	+	2	0	NAA35	87812199	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.220000	0.95180	2.191000	0.70037	0.533000	0.62120	AAG		0.408	NAA35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052906.1	NM_024635	Missense_Mutation	5	97	0	0	0	1	0	5	97				
EFNB1	1947	broad.mit.edu	37	X	68060232	68060232	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chrX:68060232C>T	ENST00000204961.4	+	5	1556	c.776C>T	c.(775-777)aCg>aTg	p.T259M		NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN	ephrin-B1	259					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|embryonic pattern specification (GO:0009880)|ephrin receptor signaling pathway (GO:0048013)|neural crest cell migration (GO:0001755)|positive regulation of T cell proliferation (GO:0042102)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ephrin receptor binding (GO:0046875)	p.T259M(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						ATCTTCCTGACGGTCCTACTA	0.617																																						ENST00000204961.4																			1	Substitution - Missense(1)	p.T259M(1)	endometrium(1)	breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						c.(775-777)aCg>aTg		ephrin-B1							61.0	54.0	57.0					X																	68060232		2203	4300	6503	SO:0001583	missense	1947				cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding	g.chrX:68060232C>T	U09303	CCDS14391.1	Xq12	2011-03-09			ENSG00000090776	ENSG00000090776		"""Ephrins"""	3226	protein-coding gene	gene with protein product		300035	"""craniofrontonasal syndrome (craniofrontonasal dysplasia)"""	EPLG2, CFNS		7774950, 16526919	Standard	NM_004429		Approved	LERK2, Elk-L	uc004dxd.4	P98172	OTTHUMG00000021751	ENST00000204961.4:c.776C>T	X.37:g.68060232C>T	ENSP00000204961:p.Thr259Met						p.T259M	NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN			5	1556	+			259					D3DVU0	Missense_Mutation	SNP	ENST00000204961.4	37	c.776C>T	CCDS14391.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.422270	0.43020	.	.	ENSG00000090776	ENST00000204961	D	0.90732	-2.72	5.06	5.06	0.68205	.	0.188018	0.47455	D	0.000235	D	0.83751	0.5322	L	0.36672	1.1	0.27495	N	0.952164	D	0.54601	0.967	B	0.39660	0.306	T	0.80892	-0.1179	10	0.72032	D	0.01	-20.8485	8.2983	0.31999	0.0:0.8937:0.0:0.1063	.	259	P98172	EFNB1_HUMAN	M	259	ENSP00000204961:T259M	ENSP00000204961:T259M	T	+	2	0	EFNB1	67976957	0.998000	0.40836	0.982000	0.44146	0.965000	0.64279	3.226000	0.51254	2.343000	0.79666	0.529000	0.55759	ACG		0.617	EFNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057029.1	NM_004429		6	44	0	0	0	1	0	6	44				
BTBD7	55727	broad.mit.edu	37	14	93730165	93730165	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr14:93730165T>A	ENST00000334746.5	-	4	1644	c.1337A>T	c.(1336-1338)cAt>cTt	p.H446L	BTBD7_ENST00000554565.1_Missense_Mutation_p.H95L|BTBD7_ENST00000393170.2_Intron	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	446	BACK.				multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		AGTAAGCAGATGGTCTTTGCT	0.423																																						ENST00000334746.5																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35						c.(1336-1338)cAt>cTt		BTB (POZ) domain containing 7							111.0	103.0	106.0					14																	93730165		2203	4300	6503	SO:0001583	missense	55727							g.chr14:93730165T>A	AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"""BTB/POZ domain containing"""	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.1337A>T	14.37:g.93730165T>A	ENSP00000335615:p.His446Leu					BTBD7_ENST00000393170.2_Intron|BTBD7_ENST00000554565.1_Missense_Mutation_p.H95L	p.H446L	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)	4	1644	-		all_cancers(154;0.08)	446					A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Missense_Mutation	SNP	ENST00000334746.5	37	c.1337A>T	CCDS32146.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.067201	0.76301	.	.	ENSG00000011114	ENST00000334746;ENST00000554565	T;T	0.67865	-0.29;-0.29	4.99	4.99	0.66335	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.70107	0.3186	L	0.31752	0.955	0.80722	D	1	P;D	0.63046	0.634;0.992	B;P	0.62885	0.124;0.908	T	0.70015	-0.4988	10	0.37606	T	0.19	.	14.7279	0.69357	0.0:0.0:0.0:1.0	.	95;446	Q9P203-5;Q9P203	.;BTBD7_HUMAN	L	446;95	ENSP00000335615:H446L;ENSP00000451010:H95L	ENSP00000335615:H446L	H	-	2	0	BTBD7	92799918	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	1.904000	0.55121	0.456000	0.33151	CAT		0.423	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860		15	81	0	0	0	1	0	15	81				
BTBD16	118663	broad.mit.edu	37	10	124045696	124045696	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr10:124045696G>C	ENST00000260723.4	+	5	569	c.318G>C	c.(316-318)aaG>aaC	p.K106N	BTBD16_ENST00000368994.2_Missense_Mutation_p.K107N	NM_144587.2	NP_653188.2	Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	106										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				CCTTGGCCAAGCTCTACCTGA	0.587																																						ENST00000368994.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15						c.(319-321)aaG>aaC		BTB (POZ) domain containing 16							135.0	135.0	135.0					10																	124045696		2203	4300	6503	SO:0001583	missense	118663							g.chr10:124045696G>C	AK058088	CCDS31301.1	10q26.13	2013-01-24	2006-07-04	2006-07-04	ENSG00000138152	ENSG00000138152		"""BTB/POZ domain containing"""	26340	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 87"""	C10orf87			Standard	NM_144587		Approved	FLJ25359, Em:AC061711.1	uc001lgc.1	Q32M84	OTTHUMG00000019182	ENST00000260723.4:c.318G>C	10.37:g.124045696G>C	ENSP00000260723:p.Lys106Asn					BTBD16_ENST00000260723.4_Missense_Mutation_p.K106N	p.K107N			Q32M84	BTBDG_HUMAN			5	572	+		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)	106					A6NM63|Q4VXL1|Q96LN0	Missense_Mutation	SNP	ENST00000260723.4	37	c.321G>C	CCDS31301.1	.	.	.	.	.	.	.	.	.	.	G	11.50	1.658382	0.29425	.	.	ENSG00000138152	ENST00000260723;ENST00000368994	T;T	0.22336	1.96;1.96	4.72	2.84	0.33178	BTB/POZ fold (2);	0.428680	0.22494	N	0.059340	T	0.26882	0.0658	M	0.73962	2.25	0.40267	D	0.978248	P;P	0.49090	0.919;0.919	P;P	0.48704	0.587;0.587	T	0.10989	-1.0606	10	0.19590	T	0.45	-13.5503	6.1266	0.20182	0.101:0.1906:0.7084:0.0	.	107;106	Q32M84-2;Q32M84	.;BTBDG_HUMAN	N	106;107	ENSP00000260723:K106N;ENSP00000357990:K107N	ENSP00000260723:K106N	K	+	3	2	BTBD16	124035686	0.996000	0.38824	0.967000	0.41034	0.047000	0.14425	0.600000	0.24104	0.584000	0.29591	0.561000	0.74099	AAG		0.587	BTBD16-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050780.3	NM_144587		58	189	0	0	0	1	0	58	189				
CPNE4	131034	broad.mit.edu	37	3	131283145	131283145	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr3:131283145A>G	ENST00000512055.1	-	15	3102	c.976T>C	c.(976-978)Tcc>Ccc	p.S326P	CPNE4_ENST00000511604.1_Missense_Mutation_p.S326P|CPNE4_ENST00000429747.1_Missense_Mutation_p.S326P|CPNE4_ENST00000502818.1_Missense_Mutation_p.S344P|CPNE4_ENST00000512332.1_Missense_Mutation_p.S344P			Q96A23	CPNE4_HUMAN	copine IV	326	VWFA.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						TAGTGCAAGGAACAGCTGTTC	0.443																																						ENST00000512055.1																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						c.(976-978)Tcc>Ccc		copine IV							124.0	118.0	120.0					3																	131283145		2203	4300	6503	SO:0001583	missense	131034							g.chr3:131283145A>G	H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"""copine 8"""	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.976T>C	3.37:g.131283145A>G	ENSP00000421705:p.Ser326Pro					CPNE4_ENST00000502818.1_Missense_Mutation_p.S344P|CPNE4_ENST00000429747.1_Missense_Mutation_p.S326P|CPNE4_ENST00000511604.1_Missense_Mutation_p.S326P|CPNE4_ENST00000512332.1_Missense_Mutation_p.S344P	p.S326P			Q96A23	CPNE4_HUMAN			15	3102	-			326			VWFA.		D3DNC5|Q8TEX1	Missense_Mutation	SNP	ENST00000512055.1	37	c.976T>C	CCDS3072.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.709768	0.89018	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818	T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39	5.52	5.52	0.82312	von Willebrand factor, type A (1);Copine (1);	0.000000	0.85682	D	0.000000	T	0.73908	0.3647	H	0.97611	4.04	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.999;1.0	D	0.84221	0.0461	10	0.87932	D	0	-24.2507	15.6361	0.76953	1.0:0.0:0.0:0.0	.	344;326	Q96A23-2;Q96A23	.;CPNE4_HUMAN	P	326;326;344;326;344	ENSP00000421705:S326P;ENSP00000411904:S326P;ENSP00000424853:S344P;ENSP00000423811:S326P;ENSP00000421646:S344P	ENSP00000411904:S326P	S	-	1	0	CPNE4	132765835	1.000000	0.71417	0.991000	0.47740	0.992000	0.81027	8.962000	0.93254	2.101000	0.63845	0.459000	0.35465	TCC		0.443	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356583.4	NM_130808		18	75	0	0	0	1	0	18	75				
WNT6	7475	broad.mit.edu	37	2	219735804	219735804	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr2:219735804C>T	ENST00000233948.3	+	2	353	c.136C>T	c.(136-138)Cgg>Tgg	p.R46W	WNT6_ENST00000486233.1_Intron	NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family, member 6	46					axis specification (GO:0009798)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|epithelial-mesenchymal cell signaling (GO:0060684)|nephron tubule formation (GO:0072079)|neuron differentiation (GO:0030182)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of gene expression (GO:0010628)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription, DNA-templated (GO:0045893)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)	p.R46W(1)		large_intestine(1)|ovary(2)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAAGGCACGGCGGCTGGCCGG	0.652																																						ENST00000233948.3																			1	Substitution - Missense(1)	p.R46W(1)	large_intestine(1)	large_intestine(1)|ovary(2)|skin(1)	4						c.(136-138)Cgg>Tgg		wingless-type MMTV integration site family, member 6							57.0	68.0	64.0					2																	219735804		2202	4299	6501	SO:0001583	missense	7475				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	g.chr2:219735804C>T	AF079522	CCDS2425.1	2q35	2008-05-23			ENSG00000115596	ENSG00000115596		"""Wingless-type MMTV integration sites"""	12785	protein-coding gene	gene with protein product		604663				10343101, 11350055	Standard	NM_006522		Approved		uc002vjc.1	Q9Y6F9	OTTHUMG00000133082	ENST00000233948.3:c.136C>T	2.37:g.219735804C>T	ENSP00000233948:p.Arg46Trp					WNT6_ENST00000486233.1_Intron	p.R46W	NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	353	+		Renal(207;0.0474)	46					Q9H1J6|Q9H238	Missense_Mutation	SNP	ENST00000233948.3	37	c.136C>T	CCDS2425.1	.	.	.	.	.	.	.	.	.	.	c	17.35	3.367545	0.61513	.	.	ENSG00000115596	ENST00000233948	T	0.76578	-1.03	5.17	2.17	0.27698	.	0.359822	0.28016	N	0.016926	D	0.82393	0.5027	L	0.45051	1.395	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.80890	-0.1180	10	0.56958	D	0.05	.	13.3694	0.60705	0.4444:0.5555:0.0:0.0	.	46	Q9Y6F9	WNT6_HUMAN	W	46	ENSP00000233948:R46W	ENSP00000233948:R46W	R	+	1	2	WNT6	219444048	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	1.510000	0.35790	0.108000	0.17862	0.586000	0.80456	CGG		0.652	WNT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256727.2	NM_006522		26	64	0	0	0	1	0	26	64				
ZXDA	7789	broad.mit.edu	37	X	57935934	57935934	+	Silent	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chrX:57935934G>A	ENST00000358697.4	-	1	1133	c.921C>T	c.(919-921)tgC>tgT	p.C307C		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	307	Required for interaction with ZXDC.				positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						AGGTCCAGCCGCAGCCACCCA	0.632																																						ENST00000358697.4																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						c.(919-921)tgC>tgT		zinc finger, X-linked, duplicated A							15.0	16.0	16.0					X																	57935934		2202	4290	6492	SO:0001819	synonymous_variant	7789				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:57935934G>A	L14787	CCDS14376.1	Xp11.21	2013-01-08			ENSG00000198205	ENSG00000198205		"""Zinc fingers, C2H2-type"""	13198	protein-coding gene	gene with protein product	"""zinc finger protein 896"""	300235				8268913	Standard	NM_007156		Approved	ZNF896	uc004dve.3	P98168	OTTHUMG00000021688	ENST00000358697.4:c.921C>T	X.37:g.57935934G>A							p.C307C	NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN			1	1133	-			307			Required for interaction with ZXDC.		Q9UJP7	Silent	SNP	ENST00000358697.4	37	c.921C>T	CCDS14376.1																																																																																				0.632	ZXDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056925.1	NM_007156		4	22	0	0	0	1	0	4	22				
DNMT3A	1788	broad.mit.edu	37	2	25472552	25472552	+	Intron	SNP	G	G	A	rs151168784		TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr2:25472552G>A	ENST00000264709.3	-	7	977				DNMT3A_ENST00000321117.5_Intron|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R16C|DNMT3A_ENST00000402667.1_Intron	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha						C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCAGGCTACGATCCACGCGC	0.478			"""Mis, F, N, S"""		AML																																	ENST00000380746.4				Rec	yes		2	2p23	1788	"""Mis, F, N, S"""	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.(46-48)Cgt>Tgt		DNA (cytosine-5-)-methyltransferase 3 alpha		G	,CYS/ARG,	0,4406		0,0,2203	235.0	203.0	214.0		,46,	1.5	0.0	2	dbSNP_134	214	3,8597	3.0+/-9.4	0,3,4297	yes	intron,missense,intron	DNMT3A	NM_022552.3,NM_153759.2,NM_175629.1	,180,	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	,,	,16/724,	25472552	3,13003	2203	4300	6503	SO:0001627	intron_variant	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25472552G>A		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.640-1431C>T	2.37:g.25472552G>A						DNMT3A_ENST00000264709.3_Intron|DNMT3A_ENST00000402667.1_Intron|DNMT3A_ENST00000321117.5_Intron	p.R16C	NM_153759.3	NP_715640.2	Q9Y6K1	DNM3A_HUMAN			2	159	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		56					E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	c.46C>T	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.469113	0.26423	0.0	3.49E-4	ENSG00000119772	ENST00000380746	D	0.93547	-3.24	3.33	1.47	0.22746	.	.	.	.	.	T	0.79759	0.4501	N	0.08118	0	0.09310	N	1	P	0.37997	0.614	B	0.16722	0.016	T	0.73300	-0.4026	9	0.87932	D	0	.	4.6282	0.12488	0.1267:0.2269:0.6464:0.0	.	16	E9PEB8	.	C	16	ENSP00000370122:R16C	ENSP00000370122:R16C	R	-	1	0	DNMT3A	25326056	0.003000	0.15002	0.000000	0.03702	0.022000	0.10575	1.361000	0.34136	0.406000	0.25560	-0.251000	0.11542	CGT		0.478	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		5	88	0	0	0	1	0	5	88				
GALNT7	51809	broad.mit.edu	37	4	174213302	174213302	+	Missense_Mutation	SNP	G	G	A	rs146899388		TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr4:174213302G>A	ENST00000265000.4	+	3	714	c.631G>A	c.(631-633)Gtt>Att	p.V211I	GALNT7_ENST00000502407.1_3'UTR|GALNT7_ENST00000512285.1_Missense_Mutation_p.V211I	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	polypeptide N-acetylgalactosaminyltransferase 7	211	Catalytic subdomain A.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		CACTTCGAGCGTTGTCATTGT	0.363													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18443	0.0		0.0	False		,,,				2504	0.0					ENST00000265000.4																			0				central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19						c.(631-633)Gtt>Att		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)		G	ILE/VAL	1,4405		0,1,2202	99.0	100.0	100.0		631	4.9	0.2	4	dbSNP_134	100	1,8599	1.2+/-3.3	0,1,4299	no	missense	GALNT7	NM_017423.2	29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	211/658	174213302	2,13004	2203	4300	6503	SO:0001583	missense	51809				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr4:174213302G>A	AJ002744	CCDS3815.1	4q31.1	2014-03-13	2014-03-13		ENSG00000109586	ENSG00000109586		"""Glycosyltransferase family 2 domain containing"""	4129	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 7"""	605005	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)"""			10544240	Standard	NM_017423		Approved	GALNAC-T7	uc003isz.4	Q86SF2	OTTHUMG00000160817	ENST00000265000.4:c.631G>A	4.37:g.174213302G>A	ENSP00000265000:p.Val211Ile					GALNT7_ENST00000512285.1_Missense_Mutation_p.V211I|GALNT7_ENST00000502407.1_3'UTR	p.V211I	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)	3	714	+		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)	211			Catalytic subdomain A.		B3KQU3|Q7Z5W7|Q9UJ28	Missense_Mutation	SNP	ENST00000265000.4	37	c.631G>A	CCDS3815.1	.	.	.	.	.	.	.	.	.	.	G	11.39	1.624870	0.28889	2.27E-4	1.16E-4	ENSG00000109586	ENST00000265000;ENST00000512285	T;T	0.61392	0.11;0.11	5.77	4.89	0.63831	Glycosyl transferase, family 2 (1);	0.054587	0.64402	N	0.000001	T	0.49795	0.1578	L	0.50847	1.595	0.80722	D	1	P	0.41978	0.767	B	0.35114	0.196	T	0.51988	-0.8635	10	0.40728	T	0.16	.	14.6766	0.68983	0.0731:0.0:0.9269:0.0	.	211	Q86SF2	GALT7_HUMAN	I	211	ENSP00000265000:V211I;ENSP00000427050:V211I	ENSP00000265000:V211I	V	+	1	0	GALNT7	174449877	1.000000	0.71417	0.167000	0.22817	0.007000	0.05969	4.893000	0.63199	1.467000	0.48044	0.655000	0.94253	GTT		0.363	GALNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362456.2	NM_017423		10	45	0	0	0	1	0	10	45				
EPB41L4B	54566	broad.mit.edu	37	9	111962564	111962564	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr9:111962564G>A	ENST00000374566.3	-	20	2514	c.1997C>T	c.(1996-1998)cCg>cTg	p.P666L		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	666					actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTTGATTTCCGGCTTTTCCAC	0.403																																						ENST00000374566.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1996-1998)cCg>cTg		erythrocyte membrane protein band 4.1 like 4B							87.0	85.0	86.0					9																	111962564		1879	4116	5995	SO:0001583	missense	54566					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton	g.chr9:111962564G>A	AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.1997C>T	9.37:g.111962564G>A	ENSP00000363694:p.Pro666Leu						p.P666L	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN			20	2514	-			666					Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Missense_Mutation	SNP	ENST00000374566.3	37	c.1997C>T	CCDS43859.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.012667	0.54468	.	.	ENSG00000095203	ENST00000262536;ENST00000374566	D	0.83992	-1.79	5.61	3.61	0.41365	.	0.000000	0.33364	N	0.004993	T	0.65133	0.2662	L	0.29908	0.895	0.80722	D	1	P	0.48640	0.913	B	0.30855	0.121	T	0.67734	-0.5594	10	0.87932	D	0	.	5.7608	0.18199	0.0988:0.0:0.6659:0.2352	.	666	Q9H329	E41LB_HUMAN	L	351;666	ENSP00000363694:P666L	ENSP00000262536:P351L	P	-	2	0	EPB41L4B	111002385	0.995000	0.38212	0.989000	0.46669	0.952000	0.60782	2.532000	0.45659	1.365000	0.46057	0.655000	0.94253	CCG		0.403	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	NM_018424		9	73	0	0	0	1	0	9	73				
OR5D16	390144	broad.mit.edu	37	11	55607047	55607047	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr11:55607047A>G	ENST00000378396.1	+	1	820	c.820A>G	c.(820-822)Aaa>Gaa	p.K274E		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	274						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				GCACACAGTCAAAGTGGCCTC	0.478																																						ENST00000378396.1																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(820-822)Aaa>Gaa		olfactory receptor, family 5, subfamily D, member 16							89.0	82.0	84.0					11																	55607047		2201	4296	6497	SO:0001583	missense	390144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55607047A>G	AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"""GPCR / Class A : Olfactory receptors"""	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.820A>G	11.37:g.55607047A>G	ENSP00000367649:p.Lys274Glu						p.K274E	NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN			1	820	+		all_epithelial(135;0.208)	274					Q6IF65|Q96RB4	Missense_Mutation	SNP	ENST00000378396.1	37	c.820A>G	CCDS31512.1	.	.	.	.	.	.	.	.	.	.	.	15.64	2.892714	0.52121	.	.	ENSG00000205029	ENST00000378396	T	0.00183	8.6	4.22	4.22	0.49857	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00580	0.0019	M	0.83603	2.65	0.20403	N	0.999906	D	0.69078	0.997	D	0.76575	0.988	T	0.45101	-0.9284	9	0.87932	D	0	-22.0367	11.5979	0.50984	1.0:0.0:0.0:0.0	.	274	Q8NGK9	OR5DG_HUMAN	E	274	ENSP00000367649:K274E	ENSP00000367649:K274E	K	+	1	0	OR5D16	55363623	0.004000	0.15560	0.505000	0.27651	0.200000	0.23975	2.212000	0.42835	1.698000	0.51180	0.439000	0.28862	AAA		0.478	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496		13	67	0	0	0	1	0	13	67				
RAB6A	5870	broad.mit.edu	37	11	73429683	73429683	+	Silent	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr11:73429683C>T	ENST00000336083.3	-	4	719	c.264G>A	c.(262-264)gtG>gtA	p.V88V	RAB6A_ENST00000541588.1_Intron|RAB6A_ENST00000536566.1_Intron|RAB6A_ENST00000310653.6_Intron	NM_198896.1	NP_942599.1	P20340	RAB6A_HUMAN	RAB6A, member RAS oncogene family	88					antigen processing and presentation (GO:0019882)|early endosome to Golgi transport (GO:0034498)|GTP catabolic process (GO:0006184)|minus-end-directed organelle transport along microtubule (GO:0072385)|peptidyl-cysteine methylation (GO:0018125)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)|protein domain specific binding (GO:0019904)			large_intestine(2)|lung(2)	4						CAACAACTGCCACAGTGGAGT	0.418																																						ENST00000336083.3																			0				large_intestine(2)|lung(2)	4						c.(262-264)gtG>gtA		RAB6A, member RAS oncogene family							122.0	110.0	114.0					11																	73429683		2200	4293	6493	SO:0001819	synonymous_variant	5870				minus-end-directed organelle transport along microtubule|peptidyl-cysteine methylation|protein targeting to Golgi|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction	cytoplasmic vesicle|cytosol|Golgi membrane|trans-Golgi network	GTP binding|GTPase activity|protein domain specific binding	g.chr11:73429683C>T	AF130986	CCDS8223.1, CCDS8224.1, CCDS58155.1, CCDS58156.1	11q13.3	2008-08-08			ENSG00000175582	ENSG00000175582		"""RAB, member RAS oncogene"""	9786	protein-coding gene	gene with protein product		179513		RAB6			Standard	NM_001243718		Approved		uc001ouf.3	P20340	OTTHUMG00000134308	ENST00000336083.3:c.264G>A	11.37:g.73429683C>T						RAB6A_ENST00000310653.6_Intron|RAB6A_ENST00000536566.1_Intron|RAB6A_ENST00000541588.1_Intron	p.V88V	NM_198896.1	NP_942599.1	P20340	RAB6A_HUMAN			4	719	-			88					A8K133|B7Z772|F5H668|Q1W5D8|Q5U0A8|Q9UBE4	Silent	SNP	ENST00000336083.3	37	c.264G>A	CCDS8224.1	.	.	.	.	.	.	.	.	.	.	C	8.001	0.755336	0.15846	.	.	ENSG00000175582	ENST00000400470	.	.	.	6.05	3.97	0.46021	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6429	0.62263	0.4256:0.5744:0.0:0.0	.	.	.	.	X	80	.	.	W	-	2	0	RAB6A	73107331	0.956000	0.32656	1.000000	0.80357	0.999000	0.98932	0.102000	0.15272	1.395000	0.46643	0.650000	0.86243	TGG		0.418	RAB6A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259241.2			7	39	0	0	0	1	0	7	39				
TRPM3	80036	broad.mit.edu	37	9	73152119	73152119	+	Missense_Mutation	SNP	C	C	T	rs199808228	byFrequency	TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr9:73152119C>T	ENST00000377111.2	-	25	4117	c.3874G>A	c.(3874-3876)Gcc>Acc	p.A1292T	TRPM3_ENST00000423814.3_Missense_Mutation_p.A1319T|TRPM3_ENST00000360823.2_Missense_Mutation_p.A1154T|TRPM3_ENST00000396292.4_Missense_Mutation_p.A1164T|TRPM3_ENST00000377105.1_Missense_Mutation_p.A1151T|TRPM3_ENST00000357533.2_Missense_Mutation_p.A1296T|TRPM3_ENST00000377110.3_Missense_Mutation_p.A1292T|TRPM3_ENST00000377106.1_Missense_Mutation_p.A1164T|TRPM3_ENST00000408909.2_Missense_Mutation_p.A1151T|TRPM3_ENST00000358082.3_Missense_Mutation_p.A1154T|TRPM3_ENST00000396285.1_Missense_Mutation_p.A1151T|TRPM3_ENST00000396280.5_Missense_Mutation_p.A1141T	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1317					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						ATGTAGGCGGCGTCCGTGCAG	0.612													C|||	6	0.00119808	0.0008	0.0	5008	,	,		16482	0.0		0.0	False		,,,				2504	0.0051					ENST00000377110.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(3874-3876)Gcc>Acc		transient receptor potential cation channel, subfamily M, member 3							122.0	112.0	116.0					9																	73152119		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73152119C>T	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.3874G>A	9.37:g.73152119C>T	ENSP00000366315:p.Ala1292Thr					TRPM3_ENST00000423814.3_Missense_Mutation_p.A1319T|TRPM3_ENST00000377105.1_Missense_Mutation_p.A1151T|TRPM3_ENST00000408909.2_Missense_Mutation_p.A1151T|TRPM3_ENST00000396280.5_Missense_Mutation_p.A1141T|TRPM3_ENST00000377106.1_Missense_Mutation_p.A1164T|TRPM3_ENST00000377111.2_Missense_Mutation_p.A1292T|TRPM3_ENST00000396285.1_Missense_Mutation_p.A1151T|TRPM3_ENST00000360823.2_Missense_Mutation_p.A1154T|TRPM3_ENST00000396292.4_Missense_Mutation_p.A1164T|TRPM3_ENST00000357533.2_Missense_Mutation_p.A1296T|TRPM3_ENST00000358082.3_Missense_Mutation_p.A1154T	p.A1292T	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN			25	4117	-			1317					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37	c.3874G>A		1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	C|C	10.69|10.69	1.422512|1.422512	0.25639|0.25639	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814|ENST00000396280	T;T;T;T;T;T;T;T;T;T;T|.	0.50277|.	0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75|.	6.17|6.17	4.34|4.34	0.51931|0.51931	.|.	0.171636|.	0.52532|.	D|.	0.000072|.	T|T	0.37210|0.37210	0.0995|0.0995	L|L	0.33485|0.33485	1.01|1.01	0.23616|0.23616	N|N	0.997285|0.997285	B;B;B;B;B;B;B;B|.	0.14438|.	0.002;0.007;0.001;0.001;0.001;0.01;0.001;0.001|.	B;B;B;B;B;B;B;B|.	0.16289|.	0.008;0.003;0.008;0.001;0.002;0.015;0.001;0.001|.	T|T	0.21245|0.21245	-1.0251|-1.0251	10|5	0.44086|.	T|.	0.13|.	-10.2347|-10.2347	10.861|10.861	0.46827|0.46827	0.0:0.8039:0.0:0.1961|0.0:0.8039:0.0:0.1961	.|.	1292;1292;1282;1296;1154;1151;1264;1151|.	Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3|.	.;.;.;.;.;.;.;.|.	T|H	1292;1292;1164;1154;1151;1296;1151;1151;1164;1154;1319|1140	ENSP00000366315:A1292T;ENSP00000366314:A1292T;ENSP00000366310:A1164T;ENSP00000354066:A1154T;ENSP00000366309:A1151T;ENSP00000350140:A1296T;ENSP00000386127:A1151T;ENSP00000379581:A1151T;ENSP00000379587:A1164T;ENSP00000350791:A1154T;ENSP00000389542:A1319T|.	ENSP00000350140:A1296T|.	A|R	-|-	1|2	0|0	TRPM3|TRPM3	72341939|72341939	0.184000|0.184000	0.23200|0.23200	0.666000|0.666000	0.29783|0.29783	0.932000|0.932000	0.56968|0.56968	0.653000|0.653000	0.24902|0.24902	1.625000|1.625000	0.50366|0.50366	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.612	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		6	130	0	0	0	1	0	6	130				
POM121L9P	29774	broad.mit.edu	37	22	24659734	24659734	+	RNA	SNP	T	T	C			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr22:24659734T>C	ENST00000414583.2	+	0	3259					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		CTCTCTCCTGTGGGAGGGGGG	0.632																																						ENST00000414583.2																			0																																																			29774							g.chr22:24659734T>C	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659734T>C								NR_003714.1						0	3259	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.632	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		4	23	0	0	0	1	0	4	23				
CHUK	1147	broad.mit.edu	37	10	101961881	101961881	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr10:101961881C>A	ENST00000370397.7	-	14	1619	c.1533G>T	c.(1531-1533)tgG>tgT	p.W511C		NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	511					anatomical structure morphogenesis (GO:0009653)|cellular response to tumor necrosis factor (GO:0071356)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|morphogenesis of an epithelial sheet (GO:0002011)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hydroperoxide (GO:0033194)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)|skeletal muscle contraction (GO:0003009)|striated muscle cell differentiation (GO:0051146)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|scaffold protein binding (GO:0097110)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	Acetylcysteine(DB06151)|Aminosalicylic Acid(DB00233)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	CCATTTCTTTCCATGCTTTTA	0.348																																					Ovarian(159;52 1904 10536 35305 37148)	ENST00000370397.7																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27						c.(1531-1533)tgG>tgT		conserved helix-loop-helix ubiquitous kinase							202.0	180.0	187.0					10																	101961881		2202	4300	6502	SO:0001583	missense	1147				I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity	g.chr10:101961881C>A	AF009225	CCDS7488.1	10q24-q25	2008-08-01			ENSG00000213341	ENSG00000213341			1974	protein-coding gene	gene with protein product		600664		TCF16		7558004, 16902410	Standard	XR_246062		Approved	IKK1, IKK-alpha, IkBKA, NFKBIKA, IKKA	uc001kqp.3	O15111	OTTHUMG00000018899	ENST00000370397.7:c.1533G>T	10.37:g.101961881C>A	ENSP00000359424:p.Trp511Cys						p.W511C	NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	14	1619	-		Colorectal(252;0.117)	511					O14666|Q13132|Q5W0I4|Q92467	Missense_Mutation	SNP	ENST00000370397.7	37	c.1533G>T	CCDS7488.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.284336	0.80803	.	.	ENSG00000213341	ENST00000370397	T	0.25912	1.77	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.53769	0.1817	M	0.74647	2.275	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.52540	-0.8562	10	0.66056	D	0.02	-7.1582	17.952	0.89056	0.0:1.0:0.0:0.0	.	511	O15111	IKKA_HUMAN	C	511	ENSP00000359424:W511C	ENSP00000359424:W511C	W	-	3	0	CHUK	101951871	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.896000	0.75665	2.835000	0.97688	0.650000	0.86243	TGG		0.348	CHUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049836.1	NM_001278		10	46	1	0	5.16669e-11	1	5.83836e-11	10	46				
NOTCH1	4851	broad.mit.edu	37	9	139412697	139412697	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr9:139412697C>A	ENST00000277541.6	-	7	1222	c.1147G>T	c.(1147-1149)Gag>Tag	p.E383*	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	383	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E383K(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TTGGAGCCCTCGTTACAGGGG	0.667			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		2	Substitution - Missense(2)	p.E383K(2)	haematopoietic_and_lymphoid_tissue(2)	breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(1147-1149)Gag>Tag		notch 1							75.0	82.0	80.0					9																	139412697		2174	4284	6458	SO:0001587	stop_gained	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139412697C>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1147G>T	9.37:g.139412697C>A	ENSP00000277541:p.Glu383*	HNSCC(8;0.001)					p.E383*	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	7	1222	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	383			EGF-like 10.		Q59ED8|Q5SXM3	Nonsense_Mutation	SNP	ENST00000277541.6	37	c.1147G>T	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	38	7.037146	0.98017	.	.	ENSG00000148400	ENST00000277541	.	.	.	4.82	3.92	0.45320	.	0.052547	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	11.625	0.51139	0.0:0.9116:0.0:0.0884	.	.	.	.	X	383	.	ENSP00000277541:E383X	E	-	1	0	NOTCH1	138532518	0.998000	0.40836	1.000000	0.80357	0.939000	0.58152	3.652000	0.54439	1.020000	0.39573	0.514000	0.50259	GAG		0.667	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		4	6	1	0	1.23904e-05	1	1.32712e-05	4	6				
DMD	1756	broad.mit.edu	37	X	31676189	31676189	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chrX:31676189G>A	ENST00000357033.4	-	54	8151	c.7945C>T	c.(7945-7947)Cgg>Tgg	p.R2649W	DMD_ENST00000359836.1_Missense_Mutation_p.R189W|DMD_ENST00000378677.2_Missense_Mutation_p.R2645W|DMD_ENST00000378707.3_Missense_Mutation_p.R189W|DMD_ENST00000541735.1_Missense_Mutation_p.R189W|DMD_ENST00000343523.2_Missense_Mutation_p.R189W|DMD_ENST00000474231.1_Missense_Mutation_p.R189W	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2649					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.R189W(2)|p.R2645W(2)|p.R2644W(1)|p.R1308W(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GAATAATCCCGGAGAAGTTTC	0.393																																						ENST00000357033.4																			6	Substitution - Missense(6)	p.R189W(2)|p.R2645W(2)|p.R2644W(1)|p.R1308W(1)	prostate(6)	NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(7945-7947)Cgg>Tgg		dystrophin							93.0	85.0	88.0					X																	31676189		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31676189G>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.7945C>T	X.37:g.31676189G>A	ENSP00000354923:p.Arg2649Trp					DMD_ENST00000378677.2_Missense_Mutation_p.R2645W|DMD_ENST00000343523.2_Missense_Mutation_p.R189W|DMD_ENST00000474231.1_Missense_Mutation_p.R189W|DMD_ENST00000359836.1_Missense_Mutation_p.R189W|DMD_ENST00000541735.1_Missense_Mutation_p.R189W|DMD_ENST00000378707.3_Missense_Mutation_p.R189W	p.R2649W	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			54	8151	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	2649					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.7945C>T	CCDS14233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.0|22.0	4.232620|4.232620	0.79688|0.79688	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000465285|ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231	.|T;T;T;T;T;T;T;T	.|0.36157	.|1.27;1.27;1.27;1.27;1.27;1.27;1.27;1.27	5.29|5.29	4.41|4.41	0.53225|0.53225	.|.	.|0.000000	.|0.32901	.|U	.|0.005517	T|T	0.54983|0.54983	0.1892|0.1892	L|L	0.55481|0.55481	1.735|1.735	0.44104|0.44104	D|D	0.996873|0.996873	.|D;D;D;D;D;D;D;D;D;D	.|0.89917	.|0.996;1.0;1.0;1.0;1.0;0.999;0.999;0.999;1.0;0.999	.|D;D;D;D;D;D;D;D;D;D	.|0.87578	.|0.974;0.987;0.998;0.986;0.986;0.913;0.967;0.967;0.965;0.941	T|T	0.56697|0.56697	-0.7936|-0.7936	5|10	.|0.62326	.|D	.|0.03	.|.	14.442|14.442	0.67323|0.67323	0.0:0.0:0.8515:0.1485|0.0:0.0:0.8515:0.1485	.|.	.|2641;2649;2645;1308;1305;189;189;189;189;189	.|P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3	.|.;DMD_HUMAN;.;.;.;.;.;.;.;.	L|W	377|2641;1308;1305;345;2645;2649;189;189;2649;2526;189;189;189	.|ENSP00000350765:R345W;ENSP00000367948:R2645W;ENSP00000354923:R2649W;ENSP00000352894:R189W;ENSP00000340057:R189W;ENSP00000367979:R189W;ENSP00000444119:R189W;ENSP00000417123:R189W	.|ENSP00000340057:R189W	P|R	-|-	2|1	0|2	DMD|DMD	31586110|31586110	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.447000|4.447000	0.60020|0.60020	0.987000|0.987000	0.38709|0.38709	0.529000|0.529000	0.55759|0.55759	CCG|CGG		0.393	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		16	77	0	0	0	1	0	16	77				
ADCY9	115	broad.mit.edu	37	16	4016809	4016809	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr16:4016809C>T	ENST00000294016.3	-	11	3567	c.3029G>A	c.(3028-3030)gGa>gAa	p.G1010E		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1010					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|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)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TTCCACGTCTCCGTGGTAGTG	0.572																																						ENST00000294016.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(3028-3030)gGa>gAa		adenylate cyclase 9							119.0	110.0	113.0					16																	4016809		2197	4300	6497	SO:0001583	missense	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4016809C>T	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.3029G>A	16.37:g.4016809C>T	ENSP00000294016:p.Gly1010Glu						p.G1010E	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN			11	3567	-			1010					A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	c.3029G>A	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.355592	0.82243	.	.	ENSG00000162104	ENST00000294016	D	0.83419	-1.72	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.90504	0.7025	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89026	0.3438	10	0.41790	T	0.15	.	19.8013	0.96509	0.0:1.0:0.0:0.0	.	1010	O60503	ADCY9_HUMAN	E	1010	ENSP00000294016:G1010E	ENSP00000294016:G1010E	G	-	2	0	ADCY9	3956810	1.000000	0.71417	0.995000	0.50966	0.838000	0.47535	7.776000	0.85560	2.761000	0.94854	0.591000	0.81541	GGA		0.572	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			36	174	0	0	0	1	0	36	174				
NELFA	7469	broad.mit.edu	37	4	1991455	1991455	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr4:1991455C>G	ENST00000411638.2	-	3	539	c.524G>C	c.(523-525)cGg>cCg	p.R175P	NELFA_ENST00000542778.1_Missense_Mutation_p.R40P|NELFA_ENST00000382882.3_Missense_Mutation_p.R186P	NM_005663.4	NP_005654.3	Q9H3P2	NELFA_HUMAN	negative elongation factor complex member A	175					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)										CAGCTCCGCCCGCAGCGTGGC	0.562																																						ENST00000382882.3																			0											c.(556-558)cGg>cCg		negative elongation factor complex member A							101.0	121.0	114.0					4																	1991455		2203	4300	6503	SO:0001583	missense	7469							g.chr4:1991455C>G	AF101434	CCDS3358.2	4p16.3	2013-01-31	2013-01-31	2013-01-31	ENSG00000185049	ENSG00000185049			12768	protein-coding gene	gene with protein product		606026	"""Wolf-Hirschhorn syndrome candidate 2"""	WHSC2		10409432	Standard	NM_005663		Approved	NELF-A	uc003gem.3	Q9H3P2	OTTHUMG00000089967	ENST00000411638.2:c.524G>C	4.37:g.1991455C>G	ENSP00000399165:p.Arg175Pro					NELFA_ENST00000411638.1_Missense_Mutation_p.R175P|NELFA_ENST00000542778.1_Missense_Mutation_p.R40P	p.R186P	NM_005663.4	NP_005654.3					3	1674	-								A2A2T1|O95392	Missense_Mutation	SNP	ENST00000411638.2	37	c.557G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.315582|5.315582	0.95655|0.95655	.|.	.|.	ENSG00000185049|ENSG00000185049	ENST00000453740;ENST00000411649|ENST00000382882;ENST00000416258;ENST00000542778;ENST00000411638;ENST00000431323;ENST00000455762	.|T;T;T;T;T	.|0.67698	.|1.34;-0.28;-0.06;1.34;1.34	4.96|4.96	4.96|4.96	0.65561|0.65561	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.83096|0.83096	0.5180|0.5180	M|M	0.79926|0.79926	2.475|2.475	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.85130	.|0.997	D|D	0.85943|0.85943	0.1459|0.1459	5|10	.|0.87932	.|D	.|0	-33.8842|-33.8842	18.1998|18.1998	0.89834|0.89834	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|175	.|Q9H3P2	.|NELFA_HUMAN	R|P	76;159|186;179;40;175;191;105	.|ENSP00000372335:R186P;ENSP00000387647:R179P;ENSP00000445757:R40P;ENSP00000399165:R175P;ENSP00000395761:R191P	.|ENSP00000372335:R186P	G|R	-|-	1|2	0|0	WHSC2|WHSC2	1961253|1961253	1.000000|1.000000	0.71417|0.71417	0.869000|0.869000	0.34112|0.34112	0.994000|0.994000	0.84299|0.84299	7.692000|7.692000	0.84203|0.84203	2.306000|2.306000	0.77630|0.77630	0.609000|0.609000	0.83330|0.83330	GGG|CGG		0.562	NELFA-015	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000473007.1	NM_005663		70	281	0	0	0	1	0	70	281				
GRM3	2913	broad.mit.edu	37	7	86415740	86415740	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr7:86415740C>T	ENST00000361669.2	+	3	1731	c.632C>T	c.(631-633)aCc>aTc	p.T211I	GRM3_ENST00000394720.2_Missense_Mutation_p.T209I|AC005009.2_ENST00000418031.1_RNA|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000536043.1_Missense_Mutation_p.T83I|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Missense_Mutation_p.T211I	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	211					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					TTCAACTGGACCTACGTGTCC	0.587																																					GBM(52;969 1098 3139 52280)	ENST00000361669.2																			0				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(631-633)aCc>aTc		glutamate receptor, metabotropic 3	Acamprosate(DB00659)|Nicotine(DB00184)						88.0	77.0	80.0					7																	86415740		2203	4300	6503	SO:0001583	missense	2913				synaptic transmission	integral to plasma membrane		g.chr7:86415740C>T		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.632C>T	7.37:g.86415740C>T	ENSP00000355316:p.Thr211Ile					GRM3_ENST00000439827.1_Missense_Mutation_p.T211I|GRM3_ENST00000536043.1_Missense_Mutation_p.T83I|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000394720.2_Missense_Mutation_p.T209I|AC005009.2_ENST00000418031.1_RNA|AC005009.2_ENST00000452471.1_RNA	p.T211I	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN			3	1731	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		211					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.632C>T	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.745660	0.89663	.	.	ENSG00000198822	ENST00000361669;ENST00000454217;ENST00000536043;ENST00000439827;ENST00000394720	D;D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31;-2.31	5.72	5.72	0.89469	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.94768	0.8311	M	0.88704	2.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.989;1.0	D	0.95182	0.8300	10	0.87932	D	0	.	18.8634	0.92281	0.0:1.0:0.0:0.0	.	83;211;211	F5GYZ2;G5E9K2;Q14832	.;.;GRM3_HUMAN	I	211;83;83;211;209	ENSP00000355316:T211I;ENSP00000405427:T83I;ENSP00000441407:T83I;ENSP00000398767:T211I;ENSP00000378209:T209I	ENSP00000355316:T211I	T	+	2	0	GRM3	86253676	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.732000	0.84908	2.711000	0.92665	0.655000	0.94253	ACC		0.587	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			19	91	0	0	0	1	0	19	91				
RCBTB1	55213	broad.mit.edu	37	13	50108311	50108311	+	Silent	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr13:50108311G>A	ENST00000378302.2	-	13	1803	c.1543C>T	c.(1543-1545)Ctg>Ttg	p.L515L	RCBTB1_ENST00000471984.1_5'UTR|RCBTB1_ENST00000258646.3_Silent_p.L515L	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	515					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		TCCTTTAGCAGAGGGCCATCC	0.443																																						ENST00000378302.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16						c.(1543-1545)Ctg>Ttg		regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1							131.0	124.0	126.0					13																	50108311		2203	4300	6503	SO:0001819	synonymous_variant	55213				cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr13:50108311G>A	AF334406	CCDS9418.1	13q14	2013-01-08			ENSG00000136144	ENSG00000136144		"""BTB/POZ domain containing"""	18243	protein-coding gene	gene with protein product		607867				11306461	Standard	XM_005266441		Approved	FLJ10716, CLLD7, CLLL7	uc001vde.1	Q8NDN9	OTTHUMG00000016915	ENST00000378302.2:c.1543C>T	13.37:g.50108311G>A						RCBTB1_ENST00000258646.3_Silent_p.L515L|RCBTB1_ENST00000471984.1_5'UTR	p.L515L	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)	13	1803	-		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	515					Q8IY29|Q969U9	Silent	SNP	ENST00000378302.2	37	c.1543C>T	CCDS9418.1																																																																																				0.443	RCBTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044912.2	NM_018191		6	164	0	0	0	1	0	6	164				
PER1	5187	broad.mit.edu	37	17	8051406	8051406	+	Silent	SNP	C	C	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr17:8051406C>A	ENST00000317276.4	-	10	1380	c.1143G>T	c.(1141-1143)ctG>ctT	p.L381L	PER1_ENST00000581082.1_Silent_p.L361L|PER1_ENST00000578089.1_5'Flank|PER1_ENST00000354903.5_Silent_p.L365L	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	381	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GCAGGTAGCCCAGCAGGGGGG	0.637			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes																														ENST00000317276.4				Dom	yes		17	17p13.1-17p12	5187	T	period homolog 1 (Drosophila)			L	ETV6		"""AML, CMML"""		0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1141-1143)ctG>ctT	Other conserved DNA damage response genes	period circadian clock 1							39.0	37.0	37.0					17																	8051406		2203	4300	6503	SO:0001819	synonymous_variant	5187				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr17:8051406C>A	AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.1143G>T	17.37:g.8051406C>A						PER1_ENST00000354903.5_Silent_p.L365L|PER1_ENST00000581082.1_Silent_p.L361L	p.L381L	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN			10	1380	-			381			PAS 2.		B2RPA8|B4DI49|D3DTR3	Silent	SNP	ENST00000317276.4	37	c.1143G>T	CCDS11131.1																																																																																				0.637	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			8	33	1	0	0.00307968	1	0.00314936	8	33				
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C	rs372167638		TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1				zinc finger protein 733, pseudogene																		CTTATGTCTAGTAAGGTTTGA	0.438																																						ENST00000331425.6																			0																																																			643955							g.chr7:62752443G>C			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752443G>C								NR_003952.1						0	992	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.438	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			6	11	0	0	0	1	0	6	11				
CCDC183	84960	broad.mit.edu	37	9	139699072	139699072	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr9:139699072A>G	ENST00000338005.6	+	7	820	c.785A>G	c.(784-786)tAc>tGc	p.Y262C	RP11-216L13.18_ENST00000471502.1_RNA|KIAA1984_ENST00000371682.3_3'UTR|RP11-216L13.19_ENST00000415992.1_RNA|KIAA1984-AS1_ENST00000414656.1_RNA	NM_001039374.4	NP_001034463.4	Q5T5S1	CC183_HUMAN		262										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		AGCGAGAAGTACCGCCGGGTA	0.652																																						ENST00000338005.6																			0				biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13						c.(784-786)tAc>tGc		KIAA1984							66.0	78.0	74.0					9																	139699072		2058	4179	6237	SO:0001583	missense	84960							g.chr9:139699072A>G																												ENST00000338005.6:c.785A>G	9.37:g.139699072A>G	ENSP00000338013:p.Tyr262Cys					KIAA1984-AS1_ENST00000414656.1_RNA|KIAA1984_ENST00000371682.3_3'UTR	p.Y262C	NM_001039374.4	NP_001034463.4	Q5T5S1	K1984_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)	7	820	+	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)	262					B2RP89|C9JD38|Q6P2D9|Q8NAI4|Q8TF18	Missense_Mutation	SNP	ENST00000338005.6	37	c.785A>G	CCDS43906.1	.	.	.	.	.	.	.	.	.	.	A	13.40	2.226036	0.39300	.	.	ENSG00000213213	ENST00000423962;ENST00000338005	T	0.11712	2.75	4.24	1.7	0.24286	.	0.997803	0.08106	U	0.997009	T	0.19644	0.0472	L	0.50333	1.59	0.80722	D	1	D	0.63046	0.992	P	0.56216	0.794	T	0.06391	-1.0829	10	0.42905	T	0.14	-6.0261	7.7083	0.28663	0.4975:0.0:0.0:0.5025	.	262	Q5T5S1	K1984_HUMAN	C	262	ENSP00000338013:Y262C	ENSP00000338013:Y262C	Y	+	2	0	KIAA1984	138818893	0.008000	0.16893	0.978000	0.43139	0.645000	0.38454	0.223000	0.17719	0.090000	0.17273	0.460000	0.39030	TAC		0.652	KIAA1984-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354899.1			4	115	0	0	0	1	0	4	115				
POM121L9P	29774	broad.mit.edu	37	22	24659813	24659813	+	RNA	SNP	C	C	T	rs368832816		TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr22:24659813C>T	ENST00000414583.2	+	0	3338					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		ATCTGCGCACCCGGAGGTGGG	0.607																																						ENST00000414583.2																			0																																																			29774							g.chr22:24659813C>T	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659813C>T								NR_003714.1						0	3338	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.607	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		4	6	0	0	0	1	0	4	6				
PCDHA10	56139	broad.mit.edu	37	5	140235928	140235928	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr5:140235928G>A	ENST00000307360.5	+	1	295	c.295G>A	c.(295-297)Gtg>Atg	p.V99M	PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.V99M|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	99	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGCGGAGCGTGGAGTGCAG	0.562																																						ENST00000307360.5																			0				NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79						c.(295-297)Gtg>Atg									128.0	134.0	132.0					5																	140235928		2198	4277	6475	SO:0001583	missense	56139							g.chr5:140235928G>A	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.295G>A	5.37:g.140235928G>A	ENSP00000304234:p.Val99Met					PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.V99M|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron	p.V99M	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	295	+								A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.295G>A	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.608432	0.28623	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.27402	1.67;1.67	4.27	-1.42	0.08913	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.19087	0.0458	L	0.35288	1.05	0.09310	N	1	P;P;P	0.51791	0.948;0.7;0.655	B;B;B	0.41691	0.364;0.298;0.322	T	0.15235	-1.0444	9	0.56958	D	0.05	.	4.2189	0.10547	0.1424:0.3542:0.3918:0.1116	.	99;99;99	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	M	99	ENSP00000421030:V99M;ENSP00000304234:V99M	ENSP00000304234:V99M	V	+	1	0	PCDHA10	140216112	0.000000	0.05858	0.672000	0.29872	0.932000	0.56968	-1.860000	0.01656	-0.086000	0.12550	-0.265000	0.10407	GTG		0.562	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		42	228	0	0	0	1	0	42	228				
ORMDL1	94101	broad.mit.edu	37	2	190636519	190636519	+	Missense_Mutation	SNP	G	G	A	rs201134408	byFrequency	TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr2:190636519G>A	ENST00000325795.3	-	3	1222	c.436C>T	c.(436-438)Cgg>Tgg	p.R146W	ORMDL1_ENST00000392349.4_Missense_Mutation_p.R146W|ORMDL1_ENST00000392350.3_Missense_Mutation_p.R146W|ORMDL1_ENST00000496543.1_5'UTR			Q9P0S3	ORML1_HUMAN	ORMDL sphingolipid biosynthesis regulator 1	146					ceramide metabolic process (GO:0006672)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(1)|urinary_tract(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00177)|Epithelial(96;0.0317)|all cancers(119;0.0889)			CCAAAGATCCGAACACCATGT	0.353													G|||	3	0.000599042	0.0	0.0	5008	,	,		16812	0.003		0.0	False		,,,				2504	0.0					ENST00000325795.3																			0				breast(1)|urinary_tract(1)	2						c.(436-438)Cgg>Tgg		ORM1-like 1 (S. cerevisiae)							78.0	80.0	79.0					2																	190636519		2203	4300	6503	SO:0001583	missense	94101				ceramide metabolic process	endoplasmic reticulum membrane|integral to membrane		g.chr2:190636519G>A		CCDS2301.1	2q32	2014-06-16	2014-06-16		ENSG00000128699	ENSG00000128699			16036	protein-coding gene	gene with protein product		610073	"""ORM1 (S. cerevisiae)-like 1"", ""ORM1-like 1 (S. cerevisiae)"""			12093374, 23066021	Standard	NM_016467		Approved		uc002ure.4	Q9P0S3	OTTHUMG00000132661	ENST00000325795.3:c.436C>T	2.37:g.190636519G>A	ENSP00000326869:p.Arg146Trp					ORMDL1_ENST00000392350.3_Missense_Mutation_p.R146W|ORMDL1_ENST00000496543.1_5'UTR|ORMDL1_ENST00000392349.4_Missense_Mutation_p.R146W	p.R146W			Q9P0S3	ORML1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00177)|Epithelial(96;0.0317)|all cancers(119;0.0889)		3	1222	-			146					B2R8W3|D3DPH9	Missense_Mutation	SNP	ENST00000325795.3	37	c.436C>T	CCDS2301.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	17.68	3.450241	0.63290	.	.	ENSG00000128699	ENST00000392350;ENST00000325795;ENST00000392349	.	.	.	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	D	0.83922	0.5359	M	0.89478	3.035	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.86295	0.1676	9	0.66056	D	0.02	-6.1667	14.6533	0.68814	0.0:0.0:0.8541:0.1459	.	146	Q9P0S3	ORML1_HUMAN	W	146	.	ENSP00000326869:R146W	R	-	1	2	ORMDL1	190344764	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.685000	0.46959	2.707000	0.92482	0.655000	0.94253	CGG		0.353	ORMDL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335275.1	NM_016467		11	45	0	0	0	1	0	11	45				
DNAH8	1769	broad.mit.edu	37	6	38893984	38893984	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr6:38893984C>T	ENST00000359357.3	+	72	10719	c.10465C>T	c.(10465-10467)Cag>Tag	p.Q3489*	RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Nonsense_Mutation_p.Q3706*|RP1-207H1.3_ENST00000418399.1_RNA|DNAH8_ENST00000441566.1_Nonsense_Mutation_p.Q3453*			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3489	AAA 5. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAATGATTTACAGGTATGTAG	0.368																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(10465-10467)Cag>Tag		dynein, axonemal, heavy chain 8							68.0	65.0	66.0					6																	38893984		2203	4300	6503	SO:0001587	stop_gained	1769							g.chr6:38893984C>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.10465C>T	6.37:g.38893984C>T	ENSP00000352312:p.Gln3489*					DNAH8_ENST00000449981.2_Nonsense_Mutation_p.Q3706*|RP1-207H1.3_ENST00000416948.1_RNA|RP1-207H1.3_ENST00000418399.1_RNA|DNAH8_ENST00000441566.1_Nonsense_Mutation_p.Q3453*	p.Q3489*							72	10719	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Nonsense_Mutation	SNP	ENST00000359357.3	37	c.10465C>T		.	.	.	.	.	.	.	.	.	.	C	53	21.455601	0.99940	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.3046	0.98621	0.0:1.0:0.0:0.0	.	.	.	.	X	3694;3694;3489;3453	.	ENSP00000333363:Q3694X	Q	+	1	0	DNAH8	39001962	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.385000	0.79763	2.878000	0.98634	0.650000	0.86243	CAG		0.368	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		6	75	0	0	0	1	0	6	75				
POM121L9P	29774	broad.mit.edu	37	22	24659741	24659741	+	RNA	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr22:24659741G>A	ENST00000414583.2	+	0	3266					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		CTGTGGGAGGGGGGAATGTTC	0.622																																						ENST00000414583.2																			0																																																			29774							g.chr22:24659741G>A	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659741G>A								NR_003714.1						0	3266	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.622	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		3	24	0	0	0	1	0	3	24				
DYSF	8291	broad.mit.edu	37	2	71788949	71788949	+	Missense_Mutation	SNP	C	C	T	rs181551438		TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr2:71788949C>T	ENST00000258104.3	+	23	2507	c.2230C>T	c.(2230-2232)Cgc>Tgc	p.R744C	DYSF_ENST00000413539.2_Missense_Mutation_p.R775C|DYSF_ENST00000409582.3_Missense_Mutation_p.R761C|DYSF_ENST00000409744.1_Missense_Mutation_p.R731C|DYSF_ENST00000429174.2_Missense_Mutation_p.R744C|DYSF_ENST00000410020.3_Missense_Mutation_p.R762C|DYSF_ENST00000409762.1_Missense_Mutation_p.R761C|DYSF_ENST00000409366.1_Missense_Mutation_p.R745C|DYSF_ENST00000409651.1_Missense_Mutation_p.R776C|DYSF_ENST00000410041.1_Missense_Mutation_p.R762C|DYSF_ENST00000394120.2_Missense_Mutation_p.R745C	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	744					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GTACCAGCTGCGCACCCATCA	0.627													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18651	0.0		0.0	False		,,,				2504	0.0					ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(2230-2232)Cgc>Tgc		dysferlin							141.0	108.0	120.0					2																	71788949		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71788949C>T	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.2230C>T	2.37:g.71788949C>T	ENSP00000258104:p.Arg744Cys					DYSF_ENST00000409651.1_Missense_Mutation_p.R776C|DYSF_ENST00000409366.1_Missense_Mutation_p.R745C|DYSF_ENST00000429174.2_Missense_Mutation_p.R744C|DYSF_ENST00000413539.2_Missense_Mutation_p.R775C|DYSF_ENST00000410020.3_Missense_Mutation_p.R762C|DYSF_ENST00000410041.1_Missense_Mutation_p.R762C|DYSF_ENST00000409762.1_Missense_Mutation_p.R761C|DYSF_ENST00000409744.1_Missense_Mutation_p.R731C|DYSF_ENST00000409582.3_Missense_Mutation_p.R761C|DYSF_ENST00000394120.2_Missense_Mutation_p.R745C	p.R744C	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			23	2507	+			744					A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.2230C>T	CCDS1918.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	28.0	4.879106	0.91740	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.97480	-4.4;-4.4;-4.4;-4.4;-4.4;-4.4;-4.4;-4.4;-4.4;-4.4;-4.4	5.34	5.34	0.76211	Ferlin A-domain (1);	0.000000	0.85682	D	0.000000	D	0.98188	0.9401	M	0.76328	2.33	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;0.999;0.999;0.999;0.999;0.999;0.999;0.999;1.0;0.999;0.998;1.0;0.999;1.0	D	0.98496	1.0612	10	0.49607	T	0.09	-16.562	16.5302	0.84355	0.0:1.0:0.0:0.0	.	776;762;745;731;762;731;761;730;775;761;744;730;745;744	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	C	775;761;761;744;744;776;745;731;745;762;762	ENSP00000407046:R775C;ENSP00000387137:R761C;ENSP00000386547:R761C;ENSP00000398305:R744C;ENSP00000258104:R744C;ENSP00000386683:R776C;ENSP00000377678:R745C;ENSP00000386285:R731C;ENSP00000386512:R745C;ENSP00000386881:R762C;ENSP00000386617:R762C	ENSP00000258104:R744C	R	+	1	0	DYSF	71642457	1.000000	0.71417	0.993000	0.49108	0.915000	0.54546	7.530000	0.81962	2.504000	0.84457	0.561000	0.74099	CGC		0.627	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		7	68	0	0	0	1	0	7	68				
ACACB	32	broad.mit.edu	37	12	109617881	109617881	+	Missense_Mutation	SNP	G	G	A	rs375366307	byFrequency	TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr12:109617881G>A	ENST00000338432.7	+	11	1926	c.1807G>A	c.(1807-1809)Gcc>Acc	p.A603T	ACACB_ENST00000377854.5_Missense_Mutation_p.A603T|ACACB_ENST00000377848.3_Missense_Mutation_p.A603T			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	603	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	TCTGCCGGCCGCCCAGCTACA	0.562													G|||	2	0.000399361	0.0015	0.0	5008	,	,		16293	0.0		0.0	False		,,,				2504	0.0					ENST00000338432.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(1807-1809)Gcc>Acc		acetyl-CoA carboxylase beta	Biotin(DB00121)						61.0	60.0	60.0					12																	109617881		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109617881G>A	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.1807G>A	12.37:g.109617881G>A	ENSP00000341044:p.Ala603Thr					ACACB_ENST00000377854.5_Missense_Mutation_p.A603T|ACACB_ENST00000377848.3_Missense_Mutation_p.A603T	p.A603T			O00763	ACACB_HUMAN			11	1926	+			603			ATP-grasp.|Biotin carboxylation.		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.1807G>A	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.504765	0.64410	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854	D;D;D	0.97831	-4.56;-4.56;-4.56	4.76	4.76	0.60689	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Biotin carboxylation domain (1);	0.000000	0.85682	D	0.000000	D	0.98185	0.9400	L	0.52905	1.665	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99029	1.0820	10	0.51188	T	0.08	.	17.7586	0.88457	0.0:0.0:1.0:0.0	.	603	O00763	ACACB_HUMAN	T	603	ENSP00000341044:A603T;ENSP00000367079:A603T;ENSP00000367085:A603T	ENSP00000341044:A603T	A	+	1	0	ACACB	108102264	1.000000	0.71417	0.977000	0.42913	0.130000	0.20726	9.729000	0.98795	2.193000	0.70182	0.563000	0.77884	GCC		0.562	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		12	58	0	0	0	1	0	12	58				
POM121L9P	29774	broad.mit.edu	37	22	24659809	24659809	+	RNA	SNP	G	G	A	rs376621154		TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr22:24659809G>A	ENST00000414583.2	+	0	3334					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		CCCTATCTGCGCACCCGGAGG	0.612																																						ENST00000414583.2																			0																																																			29774							g.chr22:24659809G>A	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659809G>A								NR_003714.1						0	3334	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.612	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		4	7	0	0	0	1	0	4	7				
AP2B1	163	broad.mit.edu	37	17	33997895	33997895	+	Intron	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr17:33997895G>A	ENST00000262325.7	+	15	2542				AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000312678.8_Missense_Mutation_p.G670E|AP2B1_ENST00000592545.1_Missense_Mutation_p.G632E|AP2B1_ENST00000538556.1_Intron|AP2B1_ENST00000589344.1_Missense_Mutation_p.G670E|AP2B1_ENST00000537622.2_Missense_Mutation_p.G670E	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		GACCTTGGCGGGGGCATTGGA	0.458																																						ENST00000312678.8																			0				NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(2008-2010)gGg>gAg		adaptor-related protein complex 2, beta 1 subunit							130.0	123.0	126.0					17																	33997895		2203	4300	6503	SO:0001627	intron_variant	163				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity	g.chr17:33997895G>A	M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.1990-878G>A	17.37:g.33997895G>A						AP2B1_ENST00000589344.1_Missense_Mutation_p.G670E|AP2B1_ENST00000538556.1_Intron|AP2B1_ENST00000262325.7_Intron|AP2B1_ENST00000592545.1_Missense_Mutation_p.G632E|AP2B1_ENST00000537622.2_Missense_Mutation_p.G670E|AP2B1_ENST00000545922.2_3'UTR	p.G670E	NM_001030006.1	NP_001025177.1	P63010	AP2B1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	15	2139	+		Ovarian(249;0.17)	663			Pro-rich (stalk region).		A6NJP3|P21851|Q7Z451|Q96J19	Missense_Mutation	SNP	ENST00000262325.7	37	c.2009G>A	CCDS32622.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.481362	0.63849	.	.	ENSG00000006125	ENST00000312678;ENST00000537622;ENST00000545922	T;T	0.32272	1.46;1.46	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.37544	0.1007	N	0.17474	0.49	0.80722	D	1	D;B;B	0.89917	1.0;0.041;0.078	D;B;B	0.87578	0.998;0.025;0.036	T	0.07908	-1.0748	10	0.11485	T	0.65	-1.2089	17.5372	0.87835	0.0:0.0:1.0:0.0	.	407;632;670	F5GYG9;B4DWG4;P63010-2	.;.;.	E	670;670;407	ENSP00000314414:G670E;ENSP00000437413:G670E	ENSP00000314414:G670E	G	+	2	0	AP2B1	31022008	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.074000	0.93998	2.624000	0.88883	0.650000	0.86243	GGG		0.458	AP2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448969.1			4	134	0	0	0	1	0	4	134				
BZRAP1	9256	broad.mit.edu	37	17	56387406	56387406	+	Silent	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr17:56387406C>T	ENST00000343736.4	-	21	3976	c.3813G>A	c.(3811-3813)gaG>gaA	p.E1271E	BZRAP1_ENST00000355701.3_Silent_p.E1271E|BZRAP1_ENST00000268893.6_Silent_p.E1211E			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1271	Poly-Glu.					cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					Gctcctcttcctcctcctcct	0.592																																						ENST00000355701.3																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(3811-3813)gaG>gaA		benzodiazapine receptor (peripheral) associated protein 1							97.0	86.0	89.0					17																	56387406		2203	4300	6503	SO:0001819	synonymous_variant	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56387406C>T	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.3813G>A	17.37:g.56387406C>T						BZRAP1_ENST00000268893.6_Silent_p.E1211E|BZRAP1_ENST00000343736.4_Silent_p.E1271E	p.E1271E	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN			21	4683	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1271			Poly-Glu.		O75111|Q8N5W3	Silent	SNP	ENST00000343736.4	37	c.3813G>A	CCDS11605.1																																																																																				0.592	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		4	96	0	0	0	1	0	4	96				
FLG	2312	broad.mit.edu	37	1	152284667	152284667	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr1:152284667C>G	ENST00000368799.1	-	3	2730	c.2695G>C	c.(2695-2697)Gag>Cag	p.E899Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	899	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATTGTTCCTCATTACGTGTT	0.562									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(2695-2697)Gag>Cag		filaggrin							396.0	381.0	386.0					1																	152284667		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152284667C>G	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2695G>C	1.37:g.152284667C>G	ENSP00000357789:p.Glu899Gln					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.E899Q	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2730	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		899			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.2695G>C	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	4.316	0.058007	0.08339	.	.	ENSG00000143631	ENST00000368799	T	0.01665	4.7	2.26	-4.53	0.03462	.	.	.	.	.	T	0.00384	0.0012	N	0.25890	0.77	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.44467	-0.9326	9	0.17369	T	0.5	.	4.2176	0.10542	0.0:0.2037:0.2776:0.5186	.	899	P20930	FILA_HUMAN	Q	899	ENSP00000357789:E899Q	ENSP00000357789:E899Q	E	-	1	0	FLG	150551291	.	.	0.000000	0.03702	0.001000	0.01503	.	.	-0.288000	0.09051	-0.603000	0.04100	GAG		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		214	455	0	0	0	1	0	214	455				
CLMN	79789	broad.mit.edu	37	14	95669476	95669476	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr14:95669476G>T	ENST00000298912.4	-	9	2323	c.2210C>A	c.(2209-2211)gCt>gAt	p.A737D		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	737					negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		CAAAACTGCAGCCAGGGGAAC	0.517																																						ENST00000298912.4																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44						c.(2209-2211)gCt>gAt		calmin (calponin-like, transmembrane)							39.0	43.0	41.0					14																	95669476		2203	4300	6503	SO:0001583	missense	79789					integral to membrane	actin binding	g.chr14:95669476G>T	AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.2210C>A	14.37:g.95669476G>T	ENSP00000298912:p.Ala737Asp						p.A737D	NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN		Epithelial(152;0.193)	9	2323	-			737					B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Missense_Mutation	SNP	ENST00000298912.4	37	c.2210C>A	CCDS9933.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.063427	0.36373	.	.	ENSG00000165959	ENST00000298912	D	0.94457	-3.43	5.16	5.16	0.70880	.	0.000000	0.41294	D	0.000917	D	0.93848	0.8032	M	0.61703	1.905	0.80722	D	1	P	0.49635	0.926	P	0.44597	0.454	D	0.94620	0.7812	10	0.72032	D	0.01	.	16.4329	0.83860	0.0:0.0:1.0:0.0	.	737	Q96JQ2	CLMN_HUMAN	D	737	ENSP00000298912:A737D	ENSP00000298912:A737D	A	-	2	0	CLMN	94739229	1.000000	0.71417	0.836000	0.33094	0.008000	0.06430	6.304000	0.72800	2.403000	0.81681	0.505000	0.49811	GCT		0.517	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414518.2			12	45	1	0	7.03913e-09	1	7.87546e-09	12	45				
RTN4	57142	broad.mit.edu	37	2	55254006	55254006	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr2:55254006C>T	ENST00000337526.6	-	3	1472	c.1229G>A	c.(1228-1230)gGt>gAt	p.G410D	RTN4_ENST00000405240.1_Missense_Mutation_p.G204D|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000394611.2_Missense_Mutation_p.G204D|RTN4_ENST00000357376.3_Missense_Mutation_p.G204D|RTN4_ENST00000354474.6_Missense_Mutation_p.G178D|RTN4_ENST00000404909.1_Missense_Mutation_p.G204D	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	410					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						CTCGATTTTACCTCCAGCAGC	0.388																																						ENST00000337526.6																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						c.(1228-1230)gGt>gAt		reticulon 4							231.0	231.0	231.0					2																	55254006		2203	4300	6503	SO:0001583	missense	57142				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding	g.chr2:55254006C>T	AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.1229G>A	2.37:g.55254006C>T	ENSP00000337838:p.Gly410Asp					RTN4_ENST00000404909.1_Missense_Mutation_p.G204D|RTN4_ENST00000405240.1_Missense_Mutation_p.G204D|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000394611.2_Missense_Mutation_p.G204D|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000357376.3_Missense_Mutation_p.G204D|RTN4_ENST00000354474.6_Missense_Mutation_p.G178D|RTN4_ENST00000317610.7_Intron	p.G410D	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN			3	1472	-			410					O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Missense_Mutation	SNP	ENST00000337526.6	37	c.1229G>A	CCDS42684.1	.	.	.	.	.	.	.	.	.	.	C	7.716	0.696221	0.15106	.	.	ENSG00000115310	ENST00000405240;ENST00000357376;ENST00000337526;ENST00000394611;ENST00000404909;ENST00000354474	T;T;T;T;T;T	0.18810	2.19;2.19;2.29;2.19;2.19;2.21	5.86	-2.3	0.06785	.	0.698275	0.14890	N	0.292461	T	0.14830	0.0358	L	0.54323	1.7	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.28586	-1.0039	10	0.22706	T	0.39	-0.4045	5.03	0.14404	0.4204:0.2129:0.3029:0.0638	.	410	Q9NQC3	RTN4_HUMAN	D	204;204;410;204;204;178	ENSP00000384471:G204D;ENSP00000349944:G204D;ENSP00000337838:G410D;ENSP00000378109:G204D;ENSP00000385650:G204D;ENSP00000346465:G178D	ENSP00000337838:G410D	G	-	2	0	RTN4	55107510	0.000000	0.05858	0.001000	0.08648	0.123000	0.20343	-1.771000	0.01789	-0.416000	0.07473	-0.319000	0.08680	GGT		0.388	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1			7	244	0	0	0	1	0	7	244				
BCRP7	100133163	broad.mit.edu	37	22	18844888	18844888	+	3'UTR	SNP	A	A	G	rs495165		TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr22:18844888A>G	ENST00000412938.1	+	0	3138																											GCTCACGGAAATACAGCTTCA	0.587																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	100133163							g.chr22:18844888A>G																												ENST00000412938.1:c.*3135A>G	22.37:g.18844888A>G														0	3138	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.587	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			5	52	0	0	0	1	0	5	52				
LMTK2	22853	broad.mit.edu	37	7	97821149	97821149	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr7:97821149G>A	ENST00000297293.5	+	11	1665	c.1372G>A	c.(1372-1374)Gaa>Aaa	p.E458K		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	458					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GCTGGGTCGTGAAATGGAGGA	0.582																																						ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(1372-1374)Gaa>Aaa		lemur tyrosine kinase 2							69.0	60.0	63.0					7																	97821149		2203	4300	6503	SO:0001583	missense	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97821149G>A	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.1372G>A	7.37:g.97821149G>A	ENSP00000297293:p.Glu458Lys						p.E458K	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			11	1665	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		458					A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	c.1372G>A	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	G	31	5.068566	0.93950	.	.	ENSG00000164715	ENST00000297293	D	0.82433	-1.61	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.91422	0.7293	M	0.78801	2.425	0.58432	D	0.999996	D	0.89917	1.0	D	0.79784	0.993	D	0.91652	0.5335	10	0.72032	D	0.01	.	19.045	0.93016	0.0:0.0:1.0:0.0	.	458	Q8IWU2	LMTK2_HUMAN	K	458	ENSP00000297293:E458K	ENSP00000297293:E458K	E	+	1	0	LMTK2	97659085	1.000000	0.71417	0.784000	0.31847	0.974000	0.67602	9.420000	0.97426	2.826000	0.97356	0.655000	0.94253	GAA		0.582	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		17	69	0	0	0	1	0	17	69				
NME7	29922	broad.mit.edu	37	1	169200024	169200024	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr1:169200024C>T	ENST00000367811.3	-	10	1178	c.922G>A	c.(922-924)Gta>Ata	p.V308I	NME7_ENST00000472647.1_Missense_Mutation_p.V272I	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN	NME/NM23 family member 7	308					brain development (GO:0007420)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|CTP biosynthetic process (GO:0006241)|determination of left/right symmetry (GO:0007368)|epithelial cilium movement (GO:0003351)|GTP biosynthetic process (GO:0006183)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|UTP biosynthetic process (GO:0006228)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550)			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					TCCATTGCTACACAAGGGCCA	0.308																																						ENST00000367811.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16						c.(922-924)Gta>Ata		NME/NM23 family member 7							88.0	81.0	83.0					1																	169200024		2203	4299	6502	SO:0001583	missense	29922				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	centrosome	ATP binding|metal ion binding|nucleoside diphosphate kinase activity	g.chr1:169200024C>T	AF153191	CCDS1277.1, CCDS44274.1	1q24.2	2014-07-31	2012-05-18		ENSG00000143156	ENSG00000143156			20461	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 67"""	613465	"""non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase)"""			19852809	Standard	NM_197972		Approved	FLJ37194, NM23-H7, CFAP67	uc001gfu.3	Q9Y5B8	OTTHUMG00000034586	ENST00000367811.3:c.922G>A	1.37:g.169200024C>T	ENSP00000356785:p.Val308Ile					NME7_ENST00000472647.1_Missense_Mutation_p.V272I	p.V308I	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN			10	1178	-	all_hematologic(923;0.208)		308					A8K3T6|A8MY09|B3KSW9|Q5TGZ4	Missense_Mutation	SNP	ENST00000367811.3	37	c.922G>A	CCDS1277.1	.	.	.	.	.	.	.	.	.	.	C	6.110	0.388565	0.11581	.	.	ENSG00000143156	ENST00000472647;ENST00000367811	T;T	0.57595	0.39;0.39	5.65	5.65	0.86999	.	0.163454	0.52532	D	0.000077	T	0.15739	0.0379	N	0.21324	0.655	0.28087	N	0.931959	B	0.09022	0.002	B	0.15484	0.013	T	0.02991	-1.1085	9	0.02654	T	1	-24.6853	10.7029	0.45937	0.0:0.9134:0.0:0.0866	.	308	Q9Y5B8	NDK7_HUMAN	I	272;308	ENSP00000433341:V272I;ENSP00000356785:V308I	ENSP00000356785:V308I	V	-	1	0	NME7	167466648	1.000000	0.71417	0.998000	0.56505	0.958000	0.62258	3.838000	0.55828	2.653000	0.90120	0.650000	0.86243	GTA		0.308	NME7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083688.1	NM_013330		14	25	0	0	0	1	0	14	25				
GATA2	2624	broad.mit.edu	37	3	128200786	128200786	+	Splice_Site	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr3:128200786G>A	ENST00000341105.2	-	5	1350	c.1019C>T	c.(1018-1020)tCg>tTg	p.S340L	GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000487848.1_Splice_Site_p.S340L|GATA2_ENST00000430265.2_Intron	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	340					blood coagulation (GO:0007596)|cell differentiation in hindbrain (GO:0021533)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|definitive hemopoiesis (GO:0060216)|embryonic placenta development (GO:0001892)|eosinophil fate commitment (GO:0035854)|GABAergic neuron differentiation (GO:0097154)|homeostasis of number of cells within a tissue (GO:0048873)|inner ear morphogenesis (GO:0042472)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of phagocytosis (GO:0050766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of forebrain neuron differentiation (GO:2000977)|regulation of histone acetylation (GO:0035065)|semicircular canal development (GO:0060872)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)|ventral spinal cord interneuron differentiation (GO:0021514)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		TCTGGCGGCCGACTGGGAGGG	0.657			Mis		AML(CML blast transformation)																																	ENST00000341105.2				Dom	yes		3	3q21.3	2624	Mis	GATA binding protein 2			L			AML(CML blast transformation)		0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79						c.e5-1		GATA binding protein 2							73.0	60.0	65.0					3																	128200786		2203	4300	6503	SO:0001630	splice_region_variant	2624				blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr3:128200786G>A	AF169253	CCDS3049.1, CCDS46903.1	3q21	2014-09-17	2001-11-28		ENSG00000179348	ENSG00000179348		"""GATA zinc finger domain containing"""	4171	protein-coding gene	gene with protein product		137295	"""GATA-binding protein 2"""			1714909	Standard	NM_032638		Approved	NFE1B	uc003eko.2	P23769	OTTHUMG00000159689	ENST00000341105.2:c.1018-1C>T	3.37:g.128200786G>A						GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000487848.1_Splice_Site_p.S340_splice|GATA2_ENST00000430265.2_Intron	p.S340_splice	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN		GBM - Glioblastoma multiforme(114;0.173)	5	1350	-			340					D3DNB3|Q53YE0|Q96BH0|Q96BH8|Q9BUJ6	Splice_Site	SNP	ENST00000341105.2	37	c.1017_splice	CCDS3049.1	.	.	.	.	.	.	.	.	.	.	G	36	5.619875	0.96660	.	.	ENSG00000179348	ENST00000341105;ENST00000487848	D;D	0.99683	-6.39;-6.39	4.95	4.95	0.65309	Zinc finger, NHR/GATA-type (1);Zinc finger, GATA-type (1);	0.000000	0.85682	D	0.000000	D	0.99372	0.9779	M	0.75447	2.3	0.80722	D	1	D	0.53312	0.959	P	0.48488	0.579	D	0.99110	1.0846	10	0.62326	D	0.03	-20.5136	18.1809	0.89777	0.0:0.0:1.0:0.0	.	340	P23769	GATA2_HUMAN	L	340	ENSP00000345681:S340L;ENSP00000417074:S340L	ENSP00000345681:S340L	S	-	2	0	GATA2	129683476	1.000000	0.71417	0.988000	0.46212	0.980000	0.70556	9.778000	0.99011	2.271000	0.75665	0.591000	0.81541	TCG		0.657	GATA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356925.1	NM_032638	Missense_Mutation	8	59	0	0	0	1	0	8	59				
SEPHS1	22929	broad.mit.edu	37	10	13361156	13361156	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr10:13361156C>T	ENST00000327347.5	-	9	1540	c.1165G>A	c.(1165-1167)Ggg>Agg	p.G389R	SEPHS1_ENST00000545675.1_3'UTR|SEPHS1_ENST00000537130.1_Missense_Mutation_p.G322R|SEPHS1_ENST00000378614.4_Missense_Mutation_p.G318R	NM_001195602.1|NM_012247.4	NP_001182531.1|NP_036379.2	P49903	SPS1_HUMAN	selenophosphate synthetase 1	389					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|selenide, water dikinase activity (GO:0004756)			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						GAGGTGGCCCCGGGTGTGGGA	0.418																																						ENST00000327347.5																			0				cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						c.(1165-1167)Ggg>Agg		selenophosphate synthetase 1							108.0	117.0	114.0					10																	13361156		2203	4300	6503	SO:0001583	missense	22929				protein modification process		ATP binding|GTP binding|selenide, water dikinase activity	g.chr10:13361156C>T	BC000941	CCDS7098.1, CCDS55702.1, CCDS55703.1	10p14	2006-10-06			ENSG00000086475	ENSG00000086475			19685	protein-coding gene	gene with protein product		600902				7665581	Standard	NM_012247		Approved	SPS, SPS1	uc001imk.3	P49903	OTTHUMG00000017696	ENST00000327347.5:c.1165G>A	10.37:g.13361156C>T	ENSP00000367893:p.Gly389Arg					SEPHS1_ENST00000378614.4_Missense_Mutation_p.G318R|SEPHS1_ENST00000545675.1_3'UTR|SEPHS1_ENST00000537130.1_Missense_Mutation_p.G322R	p.G389R	NM_001195602.1|NM_012247.4	NP_001182531.1|NP_036379.2	P49903	SPS1_HUMAN			9	1540	-			389	PQVATQNVNPTPGATS -> HKWPLKT (in Ref. 1; AAA87567).				B4DWK0|D3DRS9|D6PSQ9|Q5T5U8|Q5T5U9|Q9BVT4	Missense_Mutation	SNP	ENST00000327347.5	37	c.1165G>A	CCDS7098.1	.	.	.	.	.	.	.	.	.	.	C	19.91	3.914501	0.72983	.	.	ENSG00000086475	ENST00000327347;ENST00000319684;ENST00000378614;ENST00000537130	T;T;T	0.54071	0.8;0.59;0.81	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.56529	0.1991	N	0.08118	0	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.83275	0.991;0.956;0.956;0.996	T	0.67722	-0.5597	10	0.87932	D	0	-22.192	19.1774	0.93607	0.0:1.0:0.0:0.0	.	341;389;389;322	B4DLS1;P49903;D3DRS9;B4DWK0	.;SPS1_HUMAN;.;.	R	389;318;318;322	ENSP00000367893:G389R;ENSP00000367877:G318R;ENSP00000442768:G322R	ENSP00000367887:G318R	G	-	1	0	SEPHS1	13401162	1.000000	0.71417	0.949000	0.38748	0.969000	0.65631	7.249000	0.78278	2.601000	0.87937	0.650000	0.86243	GGG		0.418	SEPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046856.1	NM_012247		4	230	0	0	0	1	0	4	230				
IRX6	79190	broad.mit.edu	37	16	55363084	55363084	+	Silent	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr16:55363084C>T	ENST00000290552.7	+	5	2526	c.1194C>T	c.(1192-1194)tcC>tcT	p.S398S	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	398					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CCAGAGACTCCGCGTGCGACG	0.647																																						ENST00000290552.7																			0				breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						c.(1192-1194)tcC>tcT		iroquois homeobox 6							62.0	63.0	63.0					16																	55363084		2198	4300	6498	SO:0001819	synonymous_variant	79190					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:55363084C>T	AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"""Homeoboxes / TALE class"""	14675	protein-coding gene	gene with protein product		606196	"""iroquois homeobox protein 7"", ""iroquois homeobox protein 6"""	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.1194C>T	16.37:g.55363084C>T						RP11-26L20.3_ENST00000558730.2_RNA	p.S398S	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN			5	2526	+			398					B2RN06|Q7Z2K0	Silent	SNP	ENST00000290552.7	37	c.1194C>T	CCDS32449.1																																																																																				0.647	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	NM_024335		4	84	0	0	0	1	0	4	84				
PUF60	22827	broad.mit.edu	37	8	144899920	144899920	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr8:144899920C>A	ENST00000526683.1	-	9	1405	c.850G>T	c.(850-852)Gtg>Ttg	p.V284L	SCRIB_ENST00000377533.3_5'Flank|PUF60_ENST00000313352.7_Missense_Mutation_p.V224L|PUF60_ENST00000349157.6_Missense_Mutation_p.V267L|SCRIB_ENST00000356994.2_5'Flank|SCRIB_ENST00000320476.3_5'Flank|PUF60_ENST00000453551.2_Missense_Mutation_p.V241L|PUF60_ENST00000524570.1_5'UTR|PUF60_ENST00000527197.1_Missense_Mutation_p.V238L|PUF60_ENST00000456095.2_Missense_Mutation_p.V255L	NM_001271098.1|NM_078480.2	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa	284	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.|RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			ATGGAAGACACAGCATCTTGG	0.647																																						ENST00000526683.1																			0				NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14						c.(850-852)Gtg>Ttg		poly-U binding splicing factor 60KDa							23.0	31.0	28.0					8																	144899920		2145	4245	6390	SO:0001583	missense	22827				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding	g.chr8:144899920C>A	AF114818	CCDS47933.1, CCDS47934.1, CCDS47935.1, CCDS59514.1, CCDS59515.1, CCDS59516.1	8q24.3	2013-02-12	2007-07-27		ENSG00000179950	ENSG00000179950		"""RNA binding motif (RRM) containing"""	17042	protein-coding gene	gene with protein product	"""siah binding protein 1"", ""FBP interacting repressor"", ""pyrimidine tract binding splicing factor"", ""Ro ribonucleoprotein binding protein 1"""	604819				10668799, 10882074, 17579712	Standard	NM_078480		Approved	FIR, SIAHBP1, RoBPI	uc003yzs.4	Q9UHX1	OTTHUMG00000165155	ENST00000526683.1:c.850G>T	8.37:g.144899920C>A	ENSP00000434359:p.Val284Leu					PUF60_ENST00000456095.2_Missense_Mutation_p.V255L|PUF60_ENST00000349157.6_Missense_Mutation_p.V267L|PUF60_ENST00000313352.7_Missense_Mutation_p.V224L|PUF60_ENST00000453551.2_Missense_Mutation_p.V241L|PUF60_ENST00000524570.1_5'UTR|PUF60_ENST00000527197.1_Missense_Mutation_p.V238L	p.V284L	NM_001271098.1|NM_078480.1	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		9	1405	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		284			Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.|RRM 2.		A8K8K8|Q969E7|Q96D94|Q96H63|Q99628|Q9NZA0|Q9UJY7	Missense_Mutation	SNP	ENST00000526683.1	37	c.850G>T	CCDS47934.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.940442	0.73557	.	.	ENSG00000179950	ENST00000526683;ENST00000453551;ENST00000313352;ENST00000456095;ENST00000349157;ENST00000527197;ENST00000526459	T;T;T;T;T;T;T	0.13307	2.6;2.6;2.6;2.6;2.6;2.6;2.6	3.82	3.82	0.43975	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.125212	0.53938	D	0.000055	T	0.19604	0.0471	L	0.45285	1.41	0.80722	D	1	B;B;B	0.21147	0.002;0.042;0.052	B;B;B	0.38225	0.024;0.175;0.268	T	0.15464	-1.0436	10	0.72032	D	0.01	.	15.2349	0.73422	0.0:1.0:0.0:0.0	.	255;267;284	Q9UHX1-5;Q9UHX1-2;Q9UHX1	.;.;PUF60_HUMAN	L	284;241;224;255;267;238;266	ENSP00000434359:V284L;ENSP00000402953:V241L;ENSP00000322016:V224L;ENSP00000395417:V255L;ENSP00000322036:V267L;ENSP00000431960:V238L;ENSP00000432610:V266L	ENSP00000322016:V224L	V	-	1	0	PUF60	144971908	1.000000	0.71417	0.995000	0.50966	0.911000	0.54048	7.176000	0.77643	2.128000	0.65567	0.655000	0.94253	GTG		0.647	PUF60-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382222.1	NM_014281		4	34	1	0	0.150653	1	0.150653	4	34				
PJA1	64219	broad.mit.edu	37	X	68381791	68381791	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chrX:68381791C>T	ENST00000361478.1	-	2	1668	c.1291G>A	c.(1291-1293)Gcc>Acc	p.A431T	PJA1_ENST00000477231.1_5'Flank|PJA1_ENST00000374583.1_Missense_Mutation_p.A431T|PJA1_ENST00000374584.3_Missense_Mutation_p.A243T|PJA1_ENST00000374571.4_Missense_Mutation_p.A376T	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	431					protein catabolic process (GO:0030163)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						CCAGCACTGGCCCCGGCGCCA	0.602																																						ENST00000361478.1																			0				endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						c.(1291-1293)Gcc>Acc		praja ring finger 1, E3 ubiquitin protein ligase							38.0	43.0	41.0					X																	68381791		2196	4285	6481	SO:0001583	missense	64219						zinc ion binding	g.chrX:68381791C>T	AK021892	CCDS14392.1, CCDS14393.1, CCDS35316.1	Xq13.1	2013-01-09	2012-02-23		ENSG00000181191	ENSG00000181191		"""RING-type (C3HC4) zinc fingers"""	16648	protein-coding gene	gene with protein product		300420	"""praja 1"", ""praja ring finger 1"""			12036302	Standard	NM_001032396		Approved	FLJ11830, RNF70	uc004dxh.3	Q8NG27	OTTHUMG00000021753	ENST00000361478.1:c.1291G>A	X.37:g.68381791C>T	ENSP00000355014:p.Ala431Thr					PJA1_ENST00000374571.4_Missense_Mutation_p.A376T|PJA1_ENST00000374584.3_Missense_Mutation_p.A243T|PJA1_ENST00000374583.1_Missense_Mutation_p.A431T	p.A431T	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN			2	1668	-			431					A2A322|Q5JUT8|Q5JUT9|Q8NG28|Q9HAC1	Missense_Mutation	SNP	ENST00000361478.1	37	c.1291G>A	CCDS14393.1	.	.	.	.	.	.	.	.	.	.	c	9.674	1.147380	0.21288	.	.	ENSG00000181191	ENST00000396010;ENST00000374584;ENST00000374583;ENST00000361478;ENST00000374571	T;T;T;T	0.05447	3.44;3.44;3.44;3.44	1.51	1.51	0.23008	.	.	.	.	.	T	0.11750	0.0286	L	0.36672	1.1	0.09310	N	1	D;P	0.63880	0.993;0.712	D;B	0.68192	0.956;0.154	T	0.26503	-1.0101	9	0.31617	T	0.26	.	5.8838	0.18870	0.0:1.0:0.0:0.0	.	431;243	Q8NG27;Q8NG27-2	PJA1_HUMAN;.	T	346;243;431;431;376	ENSP00000363712:A243T;ENSP00000363711:A431T;ENSP00000355014:A431T;ENSP00000363699:A376T	ENSP00000355014:A431T	A	-	1	0	PJA1	68298516	0.007000	0.16637	0.001000	0.08648	0.061000	0.15899	0.377000	0.20552	1.029000	0.39812	0.417000	0.27973	GCC		0.602	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057031.2	NM_145119		33	109	0	0	0	1	0	33	109				
BRD8	10902	broad.mit.edu	37	5	137501542	137501542	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr5:137501542T>C	ENST00000254900.5	-	11	1624	c.1253A>G	c.(1252-1254)gAc>gGc	p.D418G	BRD8_ENST00000455658.2_Missense_Mutation_p.D377G|BRD8_ENST00000402931.1_Missense_Mutation_p.D418G|BRD8_ENST00000411594.2_Missense_Mutation_p.D421G|BRD8_ENST00000515014.1_5'Flank|BRD8_ENST00000230901.5_Missense_Mutation_p.D491G	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	418					cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGCAATGATGTCTCCAACAGT	0.463																																						ENST00000254900.5																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35						c.(1252-1254)gAc>gGc		bromodomain containing 8							141.0	140.0	140.0					5																	137501542		2203	4300	6503	SO:0001583	missense	10902				cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity	g.chr5:137501542T>C	AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.1253A>G	5.37:g.137501542T>C	ENSP00000254900:p.Asp418Gly					BRD8_ENST00000230901.5_Missense_Mutation_p.D491G|BRD8_ENST00000455658.2_Missense_Mutation_p.D377G|BRD8_ENST00000411594.2_Missense_Mutation_p.D421G|BRD8_ENST00000402931.1_Missense_Mutation_p.D418G	p.D418G	NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		11	1624	-			418					O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Missense_Mutation	SNP	ENST00000254900.5	37	c.1253A>G	CCDS4198.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.0|23.0	4.363103|4.363103	0.82353|0.82353	.|.	.|.	ENSG00000112983|ENSG00000112983	ENST00000254900;ENST00000454473;ENST00000418329;ENST00000230901;ENST00000402931;ENST00000411594;ENST00000239899;ENST00000455658;ENST00000511898|ENST00000441656	T;T;T;T;T;T;T|.	0.56611|.	0.8;0.47;0.52;0.65;0.49;0.51;0.45|.	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	0.044658|.	0.85682|.	D|.	0.000000|.	T|T	0.54615|0.54615	0.1869|0.1869	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	D;D;P;P;D;P;P;D|.	0.69078|.	0.964;0.965;0.926;0.908;0.995;0.944;0.944;0.997|.	P;P;P;B;P;P;B;P|.	0.61800|.	0.742;0.556;0.448;0.197;0.894;0.572;0.359;0.831|.	T|T	0.51325|0.51325	-0.8720|-0.8720	10|5	0.40728|.	T|.	0.16|.	-6.3583|-6.3583	14.5518|14.5518	0.68073|0.68073	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	377;402;197;491;421;312;491;418|.	F8W820;B4DN43;B4DMS9;A8K1N6;Q9H0E9-4;Q9H0E9-3;Q9H0E9-2;Q9H0E9|.	.;.;.;.;.;.;.;BRD8_HUMAN|.	G|A	418;447;416;491;418;421;312;377;37|412	ENSP00000254900:D418G;ENSP00000398067:D447G;ENSP00000398873:D416G;ENSP00000230901:D491G;ENSP00000384845:D418G;ENSP00000394330:D421G;ENSP00000408396:D377G|.	ENSP00000230901:D491G|.	D|T	-|-	2|1	0|0	BRD8|BRD8	137529441|137529441	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.480000|5.480000	0.66820|0.66820	2.219000|2.219000	0.72066|0.72066	0.533000|0.533000	0.62120|0.62120	GAC|ACA		0.463	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251282.3	NM_006696		15	78	0	0	0	1	0	15	78				
RFFL	117584	broad.mit.edu	37	17	33341759	33341759	+	Splice_Site	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr17:33341759C>T	ENST00000315249.7	-	6	1132	c.910G>A	c.(910-912)Ggg>Agg	p.G304R	RFFL_ENST00000394597.2_Splice_Site_p.G304R|RFFL_ENST00000584655.1_Intron|RFFL_ENST00000447669.2_Splice_Site_p.G304R|RFFL_ENST00000268850.7_Intron|RFFL_ENST00000413582.2_Intron|RFFL_ENST00000378516.2_Intron|RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000415395.2_Splice_Site_p.G304R					ring finger and FYVE-like domain containing E3 ubiquitin protein ligase											kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		AACTACATACCGTTTTGGTCT	0.438																																						ENST00000315249.7																			0				kidney(1)|large_intestine(2)|lung(3)	6						c.e6+1		ring finger and FYVE-like domain containing E3 ubiquitin protein ligase							189.0	165.0	173.0					17																	33341759		2203	4300	6503	SO:0001630	splice_region_variant	117584				apoptosis	membrane	ligase activity|zinc ion binding	g.chr17:33341759C>T	AF434816	CCDS11286.1	17q12	2012-02-23	2012-02-23		ENSG00000092871	ENSG00000092871		"""RING-type (C3HC4) zinc fingers"""	24821	protein-coding gene	gene with protein product		609735	"""ring finger and FYVE-like domain containing"""			15229288	Standard	NR_037713		Approved	rififylin, fring, RNF189, RNF34L	uc002hin.1	Q8WZ73	OTTHUMG00000132933	ENST00000315249.7:c.910+1G>A	17.37:g.33341759C>T						RFFL_ENST00000584655.1_Intron|RFFL_ENST00000447669.2_Splice_Site_p.G304_splice|RFFL_ENST00000415395.2_Splice_Site_p.G304_splice|RFFL_ENST00000394597.2_Splice_Site_p.G304_splice|RFFL_ENST00000378516.2_Intron|RFFL_ENST00000268850.7_Intron|RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000413582.2_Intron	p.G304_splice			Q8WZ73	RFFL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	6	1132	-		Ovarian(249;0.17)	304						Splice_Site	SNP	ENST00000315249.7	37	c.910_splice	CCDS11286.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.370499	0.42003	.	.	ENSG00000092871	ENST00000315249;ENST00000394597	T;T	0.45276	0.9;0.9	4.96	3.98	0.46160	.	0.208183	0.50627	D	0.000115	T	0.23806	0.0576	N	0.12182	0.205	0.80722	D	1	B	0.14805	0.011	B	0.11329	0.006	T	0.05338	-1.0891	9	.	.	.	-13.015	12.2588	0.54638	0.1698:0.8302:0.0:0.0	.	304	Q8WZ73	RFFL_HUMAN	R	304	ENSP00000326170:G304R;ENSP00000378096:G304R	.	G	-	1	0	RFFL	30365872	0.991000	0.36638	0.942000	0.38095	0.983000	0.72400	1.439000	0.35013	1.433000	0.47394	0.655000	0.94253	GGG		0.438	RFFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256460.2	NM_057178	Missense_Mutation	4	120	0	0	0	1	0	4	120				
NAF1	92345	broad.mit.edu	37	4	164061530	164061530	+	Silent	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr4:164061530G>A	ENST00000274054.2	-	5	916	c.723C>T	c.(721-723)ttC>ttT	p.F241F	NAF1_ENST00000422287.2_Silent_p.F241F|NAF1_ENST00000509434.1_5'Flank	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	241					pseudouridine synthesis (GO:0001522)|ribosome biogenesis (GO:0042254)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				CAAATATCTCGAATATCTGTA	0.303																																						ENST00000274054.2																			0				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21						c.(721-723)ttC>ttT		nuclear assembly factor 1 ribonucleoprotein							71.0	78.0	75.0					4																	164061530		2203	4292	6495	SO:0001819	synonymous_variant	92345				rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding	g.chr4:164061530G>A		CCDS3803.1, CCDS47159.1	4q32.2	2013-03-05	2013-03-05			ENSG00000145414			25126	protein-coding gene	gene with protein product			"""nuclear assembly factor 1 homolog (S. cerevisiae)"""			16618814, 16601202	Standard	NM_138386		Approved		uc003iqj.3	Q96HR8		ENST00000274054.2:c.723C>T	4.37:g.164061530G>A						NAF1_ENST00000422287.2_Silent_p.F241F	p.F241F	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN			5	916	-	all_hematologic(180;0.166)	Prostate(90;0.109)	241					D3DP28|E9PAZ2	Silent	SNP	ENST00000274054.2	37	c.723C>T	CCDS3803.1																																																																																				0.303	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364684.2	NM_138386		4	63	0	0	0	1	0	4	63				
TOR3A	64222	broad.mit.edu	37	1	179055002	179055002	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr1:179055002C>A	ENST00000367627.3	+	3	1365	c.613C>A	c.(613-615)Cac>Aac	p.H205N	TOR3A_ENST00000495145.1_3'UTR|TOR3A_ENST00000352445.6_Missense_Mutation_p.H205N	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	205					ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						CCACTTTCCTCACCCCAAATA	0.587																																						ENST00000367627.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						c.(613-615)Cac>Aac		torsin family 3, member A							72.0	61.0	65.0					1																	179055002		2203	4300	6503	SO:0001583	missense	64222				chaperone mediated protein folding requiring cofactor	endoplasmic reticulum	ATP binding	g.chr1:179055002C>A	BC001085	CCDS1329.1	1q25.2	2008-02-05	2003-04-02		ENSG00000186283	ENSG00000186283			11997	protein-coding gene	gene with protein product		607555	"""ATP-dependant interferon responsive"""	ADIR		10644435	Standard	NM_022371		Approved	FLJ22345, ADIR2	uc001gmd.3	Q9H497	OTTHUMG00000035077	ENST00000367627.3:c.613C>A	1.37:g.179055002C>A	ENSP00000356599:p.His205Asn					TOR3A_ENST00000495145.1_3'UTR|TOR3A_ENST00000352445.6_Missense_Mutation_p.H205N	p.H205N	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN			3	1365	+			205					B4DSY0|B7ZB65|Q5M7Y7|Q8WVA7|Q8WWM2|Q9H495|Q9H6E7	Missense_Mutation	SNP	ENST00000367627.3	37	c.613C>A	CCDS1329.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.011552	0.75046	.	.	ENSG00000186283	ENST00000367627;ENST00000352445;ENST00000447595	T;T;T	0.29655	1.56;1.56;1.56	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.54663	0.1872	M	0.64676	1.99	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.52102	-0.8620	10	0.51188	T	0.08	-37.052	18.4682	0.90763	0.0:1.0:0.0:0.0	.	205	Q9H497	TOR3A_HUMAN	N	205;205;97	ENSP00000356599:H205N;ENSP00000335351:H205N;ENSP00000410195:H97N	ENSP00000335351:H205N	H	+	1	0	TOR3A	177321625	1.000000	0.71417	0.975000	0.42487	0.352000	0.29268	5.741000	0.68638	2.606000	0.88127	0.655000	0.94253	CAC		0.587	TOR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084927.1	NM_022371		30	31	1	0	1.39806e-14	1	1.62031e-14	30	31				
CEP162	22832	broad.mit.edu	37	6	84913764	84913764	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr6:84913764T>C	ENST00000403245.3	-	7	736	c.622A>G	c.(622-624)Act>Gct	p.T208A	KIAA1009_ENST00000257766.4_Missense_Mutation_p.T132A	NM_014895.2	NP_055710.2														breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TCATCTTTAGTAGTCAACGGT	0.308																																						ENST00000403245.3																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(622-624)Act>Gct		KIAA1009							110.0	113.0	112.0					6																	84913764		2203	4299	6502	SO:0001583	missense	22832				cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding	g.chr6:84913764T>C																												ENST00000403245.3:c.622A>G	6.37:g.84913764T>C	ENSP00000385215:p.Thr208Ala					KIAA1009_ENST00000257766.4_Missense_Mutation_p.T132A	p.T208A	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.089)	7	736	-		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)	208						Missense_Mutation	SNP	ENST00000403245.3	37	c.622A>G	CCDS34494.2	.	.	.	.	.	.	.	.	.	.	T	6.623	0.483401	0.12581	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	T;T	0.13089	2.62;2.62	5.61	3.22	0.36961	.	0.256047	0.34386	N	0.004001	T	0.03477	0.0100	L	0.40543	1.245	0.09310	N	1	B;B	0.17268	0.011;0.021	B;B	0.15484	0.009;0.013	T	0.38436	-0.9661	10	0.51188	T	0.08	-2.4208	5.6306	0.17508	0.2821:0.0:0.1661:0.5518	.	208;208	Q5TB80;C9JFM9	QN1_HUMAN;.	A	132;208	ENSP00000257766:T132A;ENSP00000385215:T208A	ENSP00000257766:T132A	T	-	1	0	KIAA1009	84970483	0.020000	0.18652	0.280000	0.24747	0.130000	0.20726	-0.104000	0.10923	0.405000	0.25532	0.460000	0.39030	ACT		0.308	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1			3	64	0	0	0	1	0	3	64				
PNPLA4	8228	broad.mit.edu	37	X	7889801	7889801	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chrX:7889801C>A	ENST00000381042.4	-	4	534	c.364G>T	c.(364-366)Gaa>Taa	p.E122*	PNPLA4_ENST00000537427.1_Nonsense_Mutation_p.E35*|PNPLA4_ENST00000444736.1_Nonsense_Mutation_p.E122*	NM_004650.2	NP_004641.1	P41247	PLPL4_HUMAN	patatin-like phospholipase domain containing 4	122	Patatin.				lipid catabolic process (GO:0016042)		triglyceride lipase activity (GO:0004806)			kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)				AAGTGATTTTCTCTGGTTTTG	0.458																																						ENST00000381042.4																			0				kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7						c.(364-366)Gaa>Taa		patatin-like phospholipase domain containing 4							148.0	125.0	133.0					X																	7889801		2203	4299	6502	SO:0001587	stop_gained	8228				lipid catabolic process		triglyceride lipase activity	g.chrX:7889801C>A	U03886	CCDS14129.1, CCDS55368.1	Xp22.3	2014-03-14			ENSG00000006757	ENSG00000006757	3.1.1.3	"""Patatin-like phospholipase domain containing"""	24887	protein-coding gene	gene with protein product		300102				7806223, 16799181, 19029121	Standard	NM_004650		Approved	DXS1283E, GS2, iPLA2eta	uc011mhr.1	P41247	OTTHUMG00000021103	ENST00000381042.4:c.364G>T	X.37:g.7889801C>A	ENSP00000370430:p.Glu122*					PNPLA4_ENST00000537427.1_Nonsense_Mutation_p.E35*|PNPLA4_ENST00000444736.1_Nonsense_Mutation_p.E122*	p.E122*	NM_004650.2	NP_004641.1	P41247	PLPL4_HUMAN			4	534	-		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)	122			Patatin.		A8K1H3|B4E362|Q8WW83	Nonsense_Mutation	SNP	ENST00000381042.4	37	c.364G>T	CCDS14129.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.597513	0.87055	.	.	ENSG00000006757	ENST00000381042;ENST00000444736;ENST00000537427;ENST00000442940	.	.	.	4.69	-0.586	0.11694	.	0.441437	0.24861	N	0.035015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-4.1458	5.9701	0.19346	0.0:0.2582:0.4226:0.3192	.	.	.	.	X	122;122;35;122	.	ENSP00000370430:E122X	E	-	1	0	PNPLA4	7849801	0.255000	0.24002	0.000000	0.03702	0.836000	0.47400	0.094000	0.15107	-0.710000	0.05001	0.600000	0.82982	GAA		0.458	PNPLA4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055687.1	NM_004650		22	70	1	0	1.50039e-11	1	1.70396e-11	22	70				
LRRC42	115353	broad.mit.edu	37	1	54426145	54426145	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr1:54426145C>T	ENST00000371370.3	+	5	1243	c.722C>T	c.(721-723)tCa>tTa	p.S241L	LRRC42_ENST00000319223.4_Missense_Mutation_p.S241L	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	241										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						TTAGACTTATCATGTAAGTTT	0.363																																						ENST00000371370.3																			0				breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						c.(721-723)tCa>tTa		leucine rich repeat containing 42							98.0	95.0	96.0					1																	54426145		2203	4300	6503	SO:0001583	missense	115353							g.chr1:54426145C>T	AK075201	CCDS585.1	1p33-p32.1	2014-02-12			ENSG00000116212	ENSG00000116212			28792	protein-coding gene	gene with protein product						12477932	Standard	NM_001256409		Approved	MGC8974	uc001cwj.2	Q9Y546	OTTHUMG00000008436	ENST00000371370.3:c.722C>T	1.37:g.54426145C>T	ENSP00000360421:p.Ser241Leu					LRRC42_ENST00000319223.4_Missense_Mutation_p.S241L	p.S241L	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN			5	1243	+			241					D3DQ46|Q8N2Q8	Missense_Mutation	SNP	ENST00000371370.3	37	c.722C>T	CCDS585.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.545216	0.86022	.	.	ENSG00000116212	ENST00000371370;ENST00000319223	T;T	0.01221	5.15;5.15	5.71	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.05777	0.0151	M	0.84846	2.72	0.80722	D	1	P	0.45715	0.865	P	0.47981	0.563	T	0.04593	-1.0940	10	0.87932	D	0	-13.105	15.003	0.71489	0.0:0.9318:0.0:0.0682	.	241	Q9Y546	LRC42_HUMAN	L	241	ENSP00000360421:S241L;ENSP00000318185:S241L	ENSP00000318185:S241L	S	+	2	0	LRRC42	54198733	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	6.770000	0.74990	1.576000	0.49790	0.561000	0.74099	TCA		0.363	LRRC42-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023250.1	NM_052940		34	41	0	0	0	1	0	34	41				
PLXNA1	5361	broad.mit.edu	37	3	126708286	126708286	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr3:126708286C>T	ENST00000393409.2	+	1	850	c.850C>T	c.(850-852)Cgg>Tgg	p.R284W	PLXNA1_ENST00000251772.4_Missense_Mutation_p.R261W	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	284	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CAAGATCGTGCGGCTCTGTGT	0.602																																						ENST00000251772.4																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(781-783)Cgg>Tgg		plexin A1							138.0	136.0	136.0					3																	126708286		2203	4300	6503	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126708286C>T	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.850C>T	3.37:g.126708286C>T	ENSP00000377061:p.Arg284Trp					PLXNA1_ENST00000393409.2_Missense_Mutation_p.R284W	p.R261W			Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	1	850	+			284			Sema.			Missense_Mutation	SNP	ENST00000393409.2	37	c.781C>T	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	C	23.7	4.451527	0.84209	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.19669	2.13;2.13	4.25	4.25	0.50352	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.64402	D	0.000003	T	0.57710	0.2072	M	0.93507	3.425	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72304	-0.4333	10	0.87932	D	0	.	16.841	0.85968	0.0:1.0:0.0:0.0	.	284	Q9UIW2	PLXA1_HUMAN	W	284;261	ENSP00000377061:R284W;ENSP00000251772:R261W	ENSP00000251772:R261W	R	+	1	2	PLXNA1	128190976	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	5.708000	0.68377	2.209000	0.71365	0.491000	0.48974	CGG		0.602	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		5	221	0	0	0	1	0	5	221				
GRIPAP1	56850	broad.mit.edu	37	X	48846087	48846087	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chrX:48846087G>C	ENST00000376441.1	-	11	840	c.806C>G	c.(805-807)gCt>gGt	p.A269G	GRIPAP1_ENST00000376425.3_Missense_Mutation_p.A269G|GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376444.3_Missense_Mutation_p.A224G|GRIPAP1_ENST00000376423.4_Missense_Mutation_p.A216G	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	269						blood microparticle (GO:0072562)|endosome (GO:0005768)				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						TTTGTGATCAGCTTCCTTCCG	0.557																																						ENST00000376423.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						c.(646-648)gCt>gGt		GRIP1 associated protein 1							152.0	117.0	129.0					X																	48846087		2203	4300	6503	SO:0001583	missense	56850					early endosome		g.chrX:48846087G>C	AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.806C>G	X.37:g.48846087G>C	ENSP00000365624:p.Ala269Gly					GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376425.3_Missense_Mutation_p.A269G|GRIPAP1_ENST00000376444.3_Missense_Mutation_p.A224G|GRIPAP1_ENST00000376441.1_Missense_Mutation_p.A269G	p.A216G	NM_207672.1	NP_997555.1	Q4V328	GRAP1_HUMAN			10	679	-			269					A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	Missense_Mutation	SNP	ENST00000376441.1	37	c.647C>G	CCDS35248.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582784	0.65992	.	.	ENSG00000068400	ENST00000376425;ENST00000376444;ENST00000376441;ENST00000537291;ENST00000376423	T;T;T;T	0.52057	0.68;1.88;1.88;1.88	5.42	3.55	0.40652	.	0.207947	0.40728	N	0.001032	T	0.42449	0.1203	L	0.44542	1.39	0.27579	N	0.94964	D;P;P	0.57899	0.981;0.949;0.933	P;P;P	0.51777	0.679;0.6;0.461	T	0.25398	-1.0133	10	0.27082	T	0.32	-5.8848	3.8263	0.08855	0.1905:0.0:0.5153:0.2941	.	216;159;269	Q4V328-2;Q4V328-3;Q4V328	.;.;GRAP1_HUMAN	G	269;224;269;269;216	ENSP00000365608:A269G;ENSP00000365627:A224G;ENSP00000365624:A269G;ENSP00000365606:A216G	ENSP00000365606:A216G	A	-	2	0	GRIPAP1	48731031	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	4.715000	0.61909	1.056000	0.40484	0.600000	0.82982	GCT		0.557	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080970.2	NM_207672		20	101	0	0	0	1	0	20	101				
RSU1	6251	broad.mit.edu	37	10	16794653	16794653	+	Splice_Site	SNP	C	C	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr10:16794653C>A	ENST00000377921.3	-	6	785		c.e6-1		RSU1_ENST00000345264.5_Splice_Site|RSU1_ENST00000602389.1_Splice_Site|RSU1_ENST00000464074.2_Splice_Site			Q15404	RSU1_HUMAN	Ras suppressor protein 1						cell junction assembly (GO:0034329)|positive regulation of neural precursor cell proliferation (GO:2000179)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(1;7.54e-08)		TAAGGCTGAGCTAAACAGAAG	0.458																																						ENST00000377921.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	14						c.e6-1		Ras suppressor protein 1							71.0	67.0	69.0					10																	16794653		2203	4300	6503	SO:0001630	splice_region_variant	6251				cell junction assembly|signal transduction	cytosol	protein binding	g.chr10:16794653C>A	AK055596	CCDS7112.1, CCDS31157.1	10p13	2012-09-20			ENSG00000148484	ENSG00000148484			10464	protein-coding gene	gene with protein product		179555				8288261	Standard	NM_152724		Approved	RSP-1, FLJ31034	uc001iol.3	Q15404	OTTHUMG00000017740	ENST00000377921.3:c.484-1G>T	10.37:g.16794653C>A						RSU1_ENST00000464074.2_Splice_Site|RSU1_ENST00000602389.1_Splice_Site|RSU1_ENST00000345264.5_Splice_Site				Q15404	RSU1_HUMAN		GBM - Glioblastoma multiforme(1;7.54e-08)	6	785	-								A8KA46|D3DRU3|Q6FI17	Splice_Site	SNP	ENST00000377921.3	37		CCDS7112.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.457917	0.63401	.	.	ENSG00000148484	ENST00000345264;ENST00000377921;ENST00000377911	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1069	0.93300	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RSU1	16834659	1.000000	0.71417	0.998000	0.56505	0.641000	0.38312	7.456000	0.80751	2.518000	0.84900	0.650000	0.86243	.		0.458	RSU1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047006.1	NM_012425, NM_152724	Intron	6	70	1	0	5.9392e-07	1	6.51582e-07	6	70				
FAM71B	153745	broad.mit.edu	37	5	156593128	156593128	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr5:156593128T>C	ENST00000302938.4	-	1	147	c.52A>G	c.(52-54)Atg>Gtg	p.M18V		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	18						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AACGCACTCATTGAAGAGTAG	0.438																																						ENST00000302938.4																			0				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(52-54)Atg>Gtg		family with sequence similarity 71, member B							111.0	107.0	109.0					5																	156593128		2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156593128T>C		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.52A>G	5.37:g.156593128T>C	ENSP00000305596:p.Met18Val						p.M18V	NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	147	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	18					Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.52A>G	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	T	0.235	-1.017946	0.02078	.	.	ENSG00000170613	ENST00000302938	T	0.03358	3.96	4.86	2.36	0.29203	.	0.767702	0.12748	N	0.442460	T	0.01940	0.0061	N	0.12637	0.245	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.49051	-0.8979	10	0.07990	T	0.79	-13.4011	5.5082	0.16866	0.0:0.0927:0.1736:0.7337	.	18	Q8TC56	FA71B_HUMAN	V	18	ENSP00000305596:M18V	ENSP00000305596:M18V	M	-	1	0	FAM71B	156525706	0.000000	0.05858	0.100000	0.21137	0.214000	0.24535	0.034000	0.13776	0.377000	0.24735	0.528000	0.53228	ATG		0.438	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		26	88	0	0	0	1	0	26	88				
DUOX2	50506	broad.mit.edu	37	15	45402885	45402885	+	Silent	SNP	C	C	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr15:45402885C>A	ENST00000603300.1	-	8	1108	c.906G>T	c.(904-906)ctG>ctT	p.L302L	DUOX2_ENST00000389039.6_Silent_p.L302L	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	302	Peroxidase-like; mediates peroxidase activity. {ECO:0000250}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GGAAGCTGGGCAGCCACTCAT	0.617																																						ENST00000389039.6																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63						c.(904-906)ctG>ctT		dual oxidase 2							53.0	48.0	50.0					15																	45402885		2198	4294	6492	SO:0001819	synonymous_variant	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	g.chr15:45402885C>A	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.906G>T	15.37:g.45402885C>A						DUOX2_ENST00000603300.1_Silent_p.L302L	p.L302L			Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	8	1291	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	302			Peroxidase-like; mediates peroxidase activity (By similarity).		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Silent	SNP	ENST00000603300.1	37	c.906G>T	CCDS10117.1																																																																																				0.617	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		11	50	1	0	1.08611e-07	1	1.20324e-07	11	50				
ELAVL1	1994	broad.mit.edu	37	19	8045975	8045975	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr19:8045975T>G	ENST00000407627.2	-	3	397	c.268A>C	c.(268-270)Acc>Ccc	p.T90P	ELAVL1_ENST00000593807.1_Missense_Mutation_p.T90P|ELAVL1_ENST00000351593.5_Missense_Mutation_p.T117P|ELAVL1_ENST00000596459.1_Missense_Mutation_p.T90P	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	90	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|multicellular organismal development (GO:0007275)|positive regulation of translation (GO:0045727)|regulation of stem cell maintenance (GO:2000036)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|double-stranded RNA binding (GO:0003725)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						ACCTTAATGGTTTTTGACTGG	0.562																																						ENST00000407627.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(268-270)Acc>Ccc		ELAV like RNA binding protein 1							191.0	139.0	157.0					19																	8045975		2203	4300	6503	SO:0001583	missense	1994				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding	g.chr19:8045975T>G	U38175	CCDS12193.1	19p13.2	2013-10-03	2013-10-03			ENSG00000066044		"""RNA binding motif (RRM) containing"""	3312	protein-coding gene	gene with protein product	"""embryonic lethal, abnormal vision, drosophila, homolog-like 1"", ""Hu antigen R"""	603466	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R)"""	HUR		8626503, 9003489	Standard	NM_001419		Approved	HuR, Hua, MelG	uc002mjb.3	Q15717		ENST00000407627.2:c.268A>C	19.37:g.8045975T>G	ENSP00000385269:p.Thr90Pro					ELAVL1_ENST00000596459.1_Missense_Mutation_p.T90P|ELAVL1_ENST00000593807.1_Missense_Mutation_p.T90P|ELAVL1_ENST00000351593.5_Missense_Mutation_p.T117P	p.T90P	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN			3	397	-			90			RRM 1.		B4DVB8|Q53XN6|Q9BTT1	Missense_Mutation	SNP	ENST00000407627.2	37	c.268A>C	CCDS12193.1	.	.	.	.	.	.	.	.	.	.	T	19.27	3.795558	0.70452	.	.	ENSG00000066044	ENST00000407627;ENST00000351593	T;T	0.16597	2.33;2.33	5.56	5.56	0.83823	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.044974	0.85682	D	0.000000	T	0.11965	0.0291	N	0.11201	0.11	0.80722	D	1	B	0.23128	0.08	B	0.28011	0.085	T	0.10847	-1.0612	10	0.87932	D	0	.	13.7019	0.62613	0.0:0.0:0.0:1.0	.	90	Q15717	ELAV1_HUMAN	P	90;117	ENSP00000385269:T90P;ENSP00000264073:T117P	ENSP00000264073:T117P	T	-	1	0	ELAVL1	7951975	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.731000	0.68554	2.117000	0.64856	0.533000	0.62120	ACC		0.562	ELAVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461494.3	NM_001419		11	48	0	0	0	1	0	11	48				
CEP120	153241	broad.mit.edu	37	5	122718571	122718571	+	Missense_Mutation	SNP	C	C	T	rs372774629		TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr5:122718571C>T	ENST00000306467.5	-	13	2177	c.1873G>A	c.(1873-1875)Gta>Ata	p.V625I	CEP120_ENST00000306481.6_Missense_Mutation_p.V599I|CEP120_ENST00000328236.5_Missense_Mutation_p.V625I			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	625					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)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						TTTTGCTGTACGGCAGATACA	0.393													C|||	1	0.000199681	0.0	0.0	5008	,	,		16092	0.0		0.0	False		,,,				2504	0.001					ENST00000306467.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(1873-1875)Gta>Ata		centrosomal protein 120kDa		C	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	100.0	96.0	97.0		1795,1873	-2.5	0.0	5		97	0,8600		0,0,4300	no	missense,missense	CEP120	NM_001166226.1,NM_153223.3	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	599/961,625/987	122718571	1,13005	2203	4300	6503	SO:0001583	missense	153241					centrosome		g.chr5:122718571C>T	AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"""coiled-coil domain containing 100"""	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.1873G>A	5.37:g.122718571C>T	ENSP00000303058:p.Val625Ile					CEP120_ENST00000328236.5_Missense_Mutation_p.V625I|CEP120_ENST00000306481.6_Missense_Mutation_p.V599I	p.V625I			Q8N960	CE120_HUMAN			13	2177	-			625					Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Missense_Mutation	SNP	ENST00000306467.5	37	c.1873G>A	CCDS4134.2	.	.	.	.	.	.	.	.	.	.	C	4.430	0.079610	0.08533	2.27E-4	0.0	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.81	-2.47	0.06442	.	1.668340	0.02836	N	0.127280	T	0.31734	0.0806	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28964	-1.0027	10	0.35671	T	0.21	0.039	9.4631	0.38796	0.0:0.5603:0.1901:0.2496	.	625	Q8N960	CE120_HUMAN	I	625;625;599;599	ENSP00000303058:V625I;ENSP00000327504:V625I;ENSP00000307419:V599I;ENSP00000421620:V599I	ENSP00000303058:V625I	V	-	1	0	CEP120	122746470	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.152000	0.10159	-0.128000	0.11641	-0.911000	0.02809	GTA		0.393	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2	NM_153223		12	41	0	0	0	1	0	12	41				
FN3KRP	79672	broad.mit.edu	37	17	80680718	80680718	+	Missense_Mutation	SNP	C	C	T	rs144422621		TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr17:80680718C>T	ENST00000269373.6	+	4	497	c.424C>T	c.(424-426)Cgg>Tgg	p.R142W	FN3KRP_ENST00000535965.1_Missense_Mutation_p.R92W	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	142							kinase activity (GO:0016301)			breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			CTTTGTGGCCCGGTTTGGATT	0.537																																						ENST00000269373.6																			0				breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7						c.(424-426)Cgg>Tgg		fructosamine 3 kinase related protein		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	221.0	185.0	197.0		424	4.8	1.0	17	dbSNP_134	197	0,8600		0,0,4300	no	missense	FN3KRP	NM_024619.3	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	142/310	80680718	1,13005	2203	4300	6503	SO:0001583	missense	79672						kinase activity	g.chr17:80680718C>T	AY360465	CCDS11817.1	17q25.3	2014-08-12			ENSG00000141560	ENSG00000141560			25700	protein-coding gene	gene with protein product		611683				14633848	Standard	NM_024619		Approved	FLJ12171, FN3KL	uc002kfu.3	Q9HA64	OTTHUMG00000177846	ENST00000269373.6:c.424C>T	17.37:g.80680718C>T	ENSP00000269373:p.Arg142Trp					FN3KRP_ENST00000535965.1_Missense_Mutation_p.R92W	p.R142W	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)		4	497	+	Breast(20;0.000523)|all_neural(118;0.0952)		142					Q969F4|Q9H0U7	Missense_Mutation	SNP	ENST00000269373.6	37	c.424C>T	CCDS11817.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.341177	0.60963	2.27E-4	0.0	ENSG00000141560	ENST00000269373;ENST00000535965	T;T	0.46819	0.86;0.86	5.82	4.85	0.62838	Protein kinase-like domain (1);	0.209202	0.49305	D	0.000149	T	0.57858	0.2082	L	0.56769	1.78	0.19300	N	0.999972	D	0.61080	0.989	P	0.55303	0.773	T	0.55730	-0.8095	10	0.87932	D	0	-13.6618	13.6505	0.62308	0.3982:0.6018:0.0:0.0	.	142	Q9HA64	KT3K_HUMAN	W	142;92	ENSP00000269373:R142W;ENSP00000444994:R92W	ENSP00000269373:R142W	R	+	1	2	FN3KRP	78274007	0.990000	0.36364	0.996000	0.52242	0.191000	0.23601	0.509000	0.22707	1.451000	0.47736	0.655000	0.94253	CGG		0.537	FN3KRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439219.1	NM_024619		12	50	0	0	0	1	0	12	50				
RYR2	6262	broad.mit.edu	37	1	237729889	237729889	+	Silent	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr1:237729889C>T	ENST00000366574.2	+	28	3554	c.3237C>T	c.(3235-3237)agC>agT	p.S1079S	RYR2_ENST00000542537.1_Silent_p.S1063S|RYR2_ENST00000360064.6_Silent_p.S1077S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1079	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAGTGTGCAGCGGCACCGGGG	0.502																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(3235-3237)agC>agT		ryanodine receptor 2 (cardiac)							50.0	51.0	50.0					1																	237729889		1908	4128	6036	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237729889C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.3237C>T	1.37:g.237729889C>T						RYR2_ENST00000360064.6_Silent_p.S1077S|RYR2_ENST00000542537.1_Silent_p.S1063S	p.S1079S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		28	3554	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1079			4 X approximate repeats.|B30.2/SPRY 2.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.3237C>T	CCDS55691.1																																																																																				0.502	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		22	42	0	0	0	1	0	22	42				
KMT2D	8085	broad.mit.edu	37	12	49434415	49434415	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr12:49434415G>A	ENST00000301067.7	-	31	7137	c.7138C>T	c.(7138-7140)Cag>Tag	p.Q2380*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2380	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)	p.Q2110*(1)|p.Q2380*(1)									AATGGGGGCTGAGCATATGGG	0.652																																						ENST00000301067.7																			2	Substitution - Nonsense(2)	p.Q2110*(1)|p.Q2380*(1)	urinary_tract(2)								c.(7138-7140)Cag>Tag		lysine (K)-specific methyltransferase 2D							26.0	31.0	29.0					12																	49434415		2037	4179	6216	SO:0001587	stop_gained	8085							g.chr12:49434415G>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.7138C>T	12.37:g.49434415G>A	ENSP00000301067:p.Gln2380*						p.Q2380*	NM_003482.3	NP_003473.3					31	7137	-								O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	c.7138C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	46	12.431137	0.99667	.	.	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	2380	.	ENSP00000301067:Q2380X	Q	-	1	0	MLL2	47720682	1.000000	0.71417	1.000000	0.80357	0.679000	0.39708	7.607000	0.82883	2.596000	0.87737	0.591000	0.81541	CAG		0.652	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			13	58	0	0	0	1	0	13	58				
GOLGB1	2804	broad.mit.edu	37	3	121411412	121411412	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr3:121411412G>A	ENST00000340645.5	-	14	6909	c.6784C>T	c.(6784-6786)Cag>Tag	p.Q2262*	GOLGB1_ENST00000393667.3_Nonsense_Mutation_p.Q2267*	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2262					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TCCCAAATCTGCTTGTCATGT	0.423																																						ENST00000393667.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(6799-6801)Cag>Tag		golgin B1							56.0	55.0	56.0					3																	121411412		2203	4300	6503	SO:0001587	stop_gained	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121411412G>A	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.6784C>T	3.37:g.121411412G>A	ENSP00000341848:p.Gln2262*					GOLGB1_ENST00000340645.5_Nonsense_Mutation_p.Q2262*	p.Q2267*	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	14	6909	-			2262					B2ZZ91|D3DN92|E7EP74|Q14398	Nonsense_Mutation	SNP	ENST00000340645.5	37	c.6799C>T	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	G	46	12.723785	0.99691	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	.	.	.	5.91	3.99	0.46301	.	0.324032	0.26560	N	0.023691	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	7.667	0.28437	0.0846:0.3345:0.5809:0.0	.	.	.	.	X	2262;2267	.	ENSP00000341848:Q2262X	Q	-	1	0	GOLGB1	122894102	0.433000	0.25562	0.977000	0.42913	0.988000	0.76386	0.624000	0.24462	1.466000	0.48025	0.655000	0.94253	CAG		0.423	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		9	62	0	0	0	1	0	9	62				
DDX47	51202	broad.mit.edu	37	12	12974938	12974938	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr12:12974938A>G	ENST00000358007.3	+	5	504	c.482A>G	c.(481-483)aAa>aGa	p.K161R	DDX47_ENST00000352940.4_Missense_Mutation_p.K161R	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	161	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		GAAAATACGAAAGGTTTCAAC	0.403																																						ENST00000358007.3																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(481-483)aAa>aGa		DEAD (Asp-Glu-Ala-Asp) box polypeptide 47							87.0	85.0	86.0					12																	12974938		2203	4300	6503	SO:0001583	missense	51202					nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr12:12974938A>G	AK127712	CCDS8655.1, CCDS8656.1	12p13.2	2010-07-06			ENSG00000213782	ENSG00000213782		"""DEAD-boxes"""	18682	protein-coding gene	gene with protein product		615428					Standard	NM_016355		Approved	DKFZp564O176, FLJ30012, HQ0256, RRP3	uc001rax.3	Q9H0S4	OTTHUMG00000168709	ENST00000358007.3:c.482A>G	12.37:g.12974938A>G	ENSP00000350698:p.Lys161Arg					RP11-59H1.3_ENST00000534843.1_3'UTR|DDX47_ENST00000352940.4_Missense_Mutation_p.K161R	p.K161R	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0354)	5	504	+		Prostate(47;0.0526)	161			Helicase ATP-binding.		B3KXP4|G5E955|Q96GM0|Q96NV8|Q9UI98	Missense_Mutation	SNP	ENST00000358007.3	37	c.482A>G	CCDS8655.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.211440	0.79240	.	.	ENSG00000213782	ENST00000352940;ENST00000358007;ENST00000544400	T;T;T	0.42900	0.96;2.22;0.96	5.95	5.95	0.96441	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.046775	0.85682	N	0.000000	T	0.38931	0.1059	N	0.20807	0.61	0.80722	D	1	B;B;P	0.37548	0.014;0.054;0.599	B;B;P	0.44623	0.079;0.115;0.455	T	0.24764	-1.0151	10	0.41790	T	0.15	-18.6881	16.4323	0.83853	1.0:0.0:0.0:0.0	.	161;161;161	Q9H4E3;G5E955;Q9H0S4	.;.;DDX47_HUMAN	R	161;161;98	ENSP00000319578:K161R;ENSP00000350698:K161R;ENSP00000444000:K98R	ENSP00000319578:K161R	K	+	2	0	DDX47	12866205	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.645000	0.91049	2.281000	0.76405	0.528000	0.53228	AAA		0.403	DDX47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400674.1	NM_016355		13	52	0	0	0	1	0	13	52				
GPRIN2	9721	broad.mit.edu	37	10	46998915	46998915	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr10:46998915C>A	ENST00000374317.1	+	3	308	c.35C>A	c.(34-36)gCa>gAa	p.A12E	GPRIN2_ENST00000374314.4_Missense_Mutation_p.A12E	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	12										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GGTCCCTGGGCACCCCTGAGC	0.662																																						ENST00000374314.4																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						c.(34-36)gCa>gAa		G protein regulated inducer of neurite outgrowth 2							49.0	68.0	62.0					10																	46998915		2194	4288	6482	SO:0001583	missense	9721							g.chr10:46998915C>A	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"""KIAA0514"""	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.35C>A	10.37:g.46998915C>A	ENSP00000363436:p.Ala12Glu					GPRIN2_ENST00000374317.1_Missense_Mutation_p.A12E	p.A12E			O60269	GRIN2_HUMAN			1	990	+			12					Q5SVF0	Missense_Mutation	SNP	ENST00000374317.1	37	c.35C>A	CCDS31192.1	.	.	.	.	.	.	.	.	.	.	C	5.273	0.235730	0.10023	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.03468	3.92;3.92	5.33	1.19	0.21007	.	0.857574	0.09924	N	0.738113	T	0.01730	0.0055	N	0.05510	-0.035	0.09310	N	0.999997	B	0.09022	0.002	B	0.09377	0.004	T	0.49093	-0.8975	10	0.08381	T	0.77	-0.0126	3.9615	0.09413	0.365:0.4523:0.0:0.1827	.	12	O60269	GRIN2_HUMAN	E	12	ENSP00000363436:A12E;ENSP00000363433:A12E	ENSP00000363433:A12E	A	+	2	0	GPRIN2	46418921	0.000000	0.05858	0.864000	0.33941	0.315000	0.28087	-0.070000	0.11523	0.279000	0.22186	-0.140000	0.14226	GCA		0.662	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696		15	202	1	0	1.56452e-12	1	1.79483e-12	15	202				
AMER1	139285	broad.mit.edu	37	X	63413165	63413165	+	Start_Codon_SNP	SNP	A	A	G			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chrX:63413165A>G	ENST00000330258.3	-	2	274	c.2T>C	c.(1-3)aTg>aCg	p.M1T	AMER1_ENST00000374869.3_Start_Codon_SNP_p.M1T|AMER1_ENST00000403336.1_Start_Codon_SNP_p.M1T	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	1					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									TTGGGTCTCCATGATGATGGG	0.527																																						ENST00000330258.3																			67	Whole gene deletion(67)	p.0?(67)	kidney(65)|ovary(1)|large_intestine(1)								c.(1-3)aTg>aCg		APC membrane recruitment protein 1							115.0	96.0	102.0					X																	63413165		2203	4300	6503	SO:0001582	initiator_codon_variant	139285							g.chrX:63413165A>G	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.2T>C	X.37:g.63413165A>G	ENSP00000329117:p.Met1Thr					AMER1_ENST00000374869.3_Start_Codon_SNP_p.M1T|AMER1_ENST00000403336.1_Start_Codon_SNP_p.M1T	p.M1T	NM_152424.3	NP_689637.3					2	274	-								A2IB86|Q8N885	Translation_Start_Site	SNP	ENST00000330258.3	37	c.2T>C	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	A	11.40	1.628975	0.28978	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	T;T;T	0.50548	0.76;0.74;0.76	5.04	5.04	0.67666	.	0.171471	0.49305	D	0.000148	T	0.68035	0.2957	.	.	.	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.72776	-0.4191	9	0.87932	D	0	-12.2232	12.87	0.57960	1.0:0.0:0.0:0.0	.	1	Q5JTC6	F123B_HUMAN	T	1	ENSP00000364003:M1T;ENSP00000329117:M1T;ENSP00000384722:M1T	ENSP00000329117:M1T	M	-	2	0	FAM123B	63329890	1.000000	0.71417	0.995000	0.50966	0.072000	0.16883	6.109000	0.71528	1.988000	0.58038	0.486000	0.48141	ATG		0.527	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424	Missense_Mutation	4	91	0	0	0	1	0	4	91				
TECPR1	25851	broad.mit.edu	37	7	97873901	97873901	+	Silent	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr7:97873901G>A	ENST00000447648.2	-	5	812	c.513C>T	c.(511-513)tcC>tcT	p.S171S	TECPR1_ENST00000542604.1_Silent_p.S92S|TECPR1_ENST00000379795.3_Silent_p.S171S			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	171					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGATGTCCCGGGACTTGTATC	0.582																																						ENST00000447648.2																			0				central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(511-513)tcC>tcT		tectonin beta-propeller repeat containing 1							76.0	80.0	79.0					7																	97873901		2012	4173	6185	SO:0001819	synonymous_variant	25851					integral to membrane	protein binding	g.chr7:97873901G>A		CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.513C>T	7.37:g.97873901G>A						TECPR1_ENST00000542604.1_Silent_p.S92S|TECPR1_ENST00000379795.3_Silent_p.S171S	p.S171S			Q7Z6L1	TCPR1_HUMAN			5	812	-			171					A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Silent	SNP	ENST00000447648.2	37	c.513C>T	CCDS47648.1																																																																																				0.582	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1	NM_015395		13	63	0	0	0	1	0	13	63				
MAGEB4	4115	broad.mit.edu	37	X	30260337	30260337	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chrX:30260337C>T	ENST00000378982.2	+	1	281	c.85C>T	c.(85-87)Cag>Tag	p.Q29*	MAGEB1_ENST00000378981.3_5'Flank|MAGEB1_ENST00000397550.1_5'Flank	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	29										breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						CAAGGTTGGTCAGCCTACTGC	0.567																																						ENST00000378982.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(85-87)Cag>Tag		melanoma antigen family B, 4							108.0	88.0	95.0					X																	30260337		2202	4300	6502	SO:0001587	stop_gained	4115							g.chrX:30260337C>T		CCDS14221.1	Xp21.3	2009-03-17			ENSG00000120289	ENSG00000120289			6811	protein-coding gene	gene with protein product	"""melanoma-associated antigen B4"", ""cancer/testis antigen family 3, member 6"""	300153				9441743	Standard	NM_002367		Approved	MGC33144, CT3.6	uc004dcb.3	O15481	OTTHUMG00000021321	ENST00000378982.2:c.85C>T	X.37:g.30260337C>T	ENSP00000368266:p.Gln29*						p.Q29*	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN			1	281	+			29					B2R9G0|Q6FHH4|Q8IZ00	Nonsense_Mutation	SNP	ENST00000378982.2	37	c.85C>T	CCDS14221.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.598816	0.66332	.	.	ENSG00000120289	ENST00000378982	.	.	.	3.22	1.31	0.21738	.	2.145430	0.03201	U	0.174770	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	3.7067	0.08404	0.0:0.5921:0.2548:0.1531	.	.	.	.	X	29	.	ENSP00000368266:Q29X	Q	+	1	0	MAGEB4	30170258	0.008000	0.16893	0.001000	0.08648	0.004000	0.04260	0.566000	0.23593	0.213000	0.20722	0.544000	0.68410	CAG		0.567	MAGEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056159.1	NM_002367		6	39	0	0	0	1	0	6	39				
MYOD1	4654	broad.mit.edu	37	11	17741781	17741781	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr11:17741781G>A	ENST00000250003.3	+	1	667	c.452G>A	c.(451-453)cGc>cAc	p.R151H		NM_002478.4	NP_002469.2	P15172	MYOD1_HUMAN	myogenic differentiation 1	151	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to oxygen levels (GO:0071453)|cellular response to starvation (GO:0009267)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|myoblast fate determination (GO:0007518)|myotube cell development (GO:0014904)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast fusion (GO:1901741)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle tissue development (GO:0007519)|transcription from RNA polymerase II promoter (GO:0006366)	myofibril (GO:0030016)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|E-box binding (GO:0070888)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	17						GAGATCCTGCGCAACGCCATC	0.667																																						ENST00000250003.3																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	17						c.(451-453)cGc>cAc		myogenic differentiation 1							40.0	32.0	35.0					11																	17741781		2200	4293	6493	SO:0001583	missense	4654				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development	nuclear chromatin|transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity	g.chr11:17741781G>A	AF027148	CCDS7826.1	11p15	2013-05-21	2005-09-12			ENSG00000129152		"""Basic helix-loop-helix proteins"""	7611	protein-coding gene	gene with protein product	"""myoblast determination protein 1"""	159970	"""myogenic factor 3"""	MYF3			Standard	NM_002478		Approved	PUM, MYOD, bHLHc1	uc001mni.3	P15172		ENST00000250003.3:c.452G>A	11.37:g.17741781G>A	ENSP00000250003:p.Arg151His						p.R151H	NM_002478.4	NP_002469.2	P15172	MYOD1_HUMAN			1	667	+			151			Helix-loop-helix motif.		O75321	Missense_Mutation	SNP	ENST00000250003.3	37	c.452G>A	CCDS7826.1	.	.	.	.	.	.	.	.	.	.	G	36	5.760783	0.96906	.	.	ENSG00000129152	ENST00000250003	D	0.98249	-4.82	4.88	4.88	0.63580	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.98896	0.9626	M	0.85630	2.765	0.80722	D	1	D	0.76494	0.999	D	0.63957	0.92	D	0.99787	1.1030	10	0.87932	D	0	-21.978	18.2189	0.89895	0.0:0.0:1.0:0.0	.	151	P15172	MYOD1_HUMAN	H	151	ENSP00000250003:R151H	ENSP00000250003:R151H	R	+	2	0	MYOD1	17698357	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.595000	0.98260	2.541000	0.85698	0.561000	0.74099	CGC		0.667	MYOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389387.1	NM_002478		8	19	0	0	0	1	0	8	19				
OAF	220323	broad.mit.edu	37	11	120099625	120099625	+	Missense_Mutation	SNP	C	C	T	rs372887924		TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr11:120099625C>T	ENST00000328965.4	+	4	1109	c.596C>T	c.(595-597)gCg>gTg	p.A199V	OAF_ENST00000531220.1_Missense_Mutation_p.A83V	NM_178507.2	NP_848602.1	Q86UD1	OAF_HUMAN	OAF homolog (Drosophila)	199						extracellular vesicular exosome (GO:0070062)				kidney(1)|lung(5)	6		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		TCAGAGCAGGCGGAGCTGCCT	0.662																																						ENST00000328965.4																			0				kidney(1)|lung(5)	6						c.(595-597)gCg>gTg		OAF homolog (Drosophila)		C	VAL/ALA	1,4403		0,1,2201	34.0	32.0	33.0		596	-3.2	0.0	11		33	0,8590		0,0,4295	no	missense	OAF	NM_178507.2	64	0,1,6496	TT,TC,CC		0.0,0.0227,0.0077	benign	199/274	120099625	1,12993	2202	4295	6497	SO:0001583	missense	220323							g.chr11:120099625C>T	BC047726	CCDS8430.1	11q23.3	2010-11-23			ENSG00000184232	ENSG00000184232			28752	protein-coding gene	gene with protein product						12477932	Standard	NM_178507		Approved	MGC52117	uc001pxb.3	Q86UD1	OTTHUMG00000166139	ENST00000328965.4:c.596C>T	11.37:g.120099625C>T	ENSP00000332613:p.Ala199Val					OAF_ENST00000531220.1_Missense_Mutation_p.A83V	p.A199V	NM_178507.2	NP_848602.1	Q86UD1	OAF_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)	4	1109	+		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)	199						Missense_Mutation	SNP	ENST00000328965.4	37	c.596C>T	CCDS8430.1	.	.	.	.	.	.	.	.	.	.	C	6.898	0.535176	0.13188	2.27E-4	0.0	ENSG00000184232	ENST00000328965;ENST00000531220	T;T	0.29397	1.57;1.57	4.45	-3.16	0.05217	.	1.066530	0.07260	N	0.867403	T	0.15739	0.0379	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.33854	-0.9852	10	0.19590	T	0.45	-0.1356	13.3343	0.60507	0.0:0.8652:0.0:0.1348	.	199	Q86UD1	OAF_HUMAN	V	199;83	ENSP00000332613:A199V;ENSP00000431865:A83V	ENSP00000332613:A199V	A	+	2	0	OAF	119604835	0.000000	0.05858	0.000000	0.03702	0.543000	0.35085	-0.212000	0.09319	-1.133000	0.02903	0.655000	0.94253	GCG		0.662	OAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388036.2	NM_178507		5	52	0	0	0	1	0	5	52				
MTM1	4534	broad.mit.edu	37	X	149807467	149807467	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chrX:149807467G>T	ENST00000370396.2	+	7	550	c.496G>T	c.(496-498)Gtt>Ttt	p.V166F	MTM1_ENST00000542741.1_Missense_Mutation_p.V71F|MTM1_ENST00000543350.1_Missense_Mutation_p.V51F|MTM1_ENST00000413012.2_Missense_Mutation_p.V129F|MTM1_ENST00000306167.7_3'UTR	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	166	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				endosome to lysosome transport (GO:0008333)|intermediate filament organization (GO:0045109)|mitochondrion distribution (GO:0048311)|mitochondrion morphogenesis (GO:0070584)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|protein transport (GO:0015031)|regulation of vacuole organization (GO:0044088)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	intermediate filament binding (GO:0019215)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)	p.V166I(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					TGGATGGACAGTTTACAATCC	0.363																																						ENST00000370396.2																			1	Substitution - Missense(1)	p.V166I(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(496-498)Gtt>Ttt		myotubularin 1							203.0	178.0	187.0					X																	149807467		2203	4300	6503	SO:0001583	missense	4534				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	g.chrX:149807467G>T	U46024	CCDS14694.1	Xq27.3-q28	2014-09-17			ENSG00000171100	ENSG00000171100		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7448	protein-coding gene	gene with protein product		300415	"""myotubular myopathy 1"""				Standard	NM_000252		Approved		uc004fef.4	Q13496	OTTHUMG00000024158	ENST00000370396.2:c.496G>T	X.37:g.149807467G>T	ENSP00000359423:p.Val166Phe					MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000413012.2_Missense_Mutation_p.V129F|MTM1_ENST00000542741.1_Missense_Mutation_p.V71F|MTM1_ENST00000543350.1_Missense_Mutation_p.V51F	p.V166F	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN			7	550	+	Acute lymphoblastic leukemia(192;6.56e-05)		166			Myotubularin phosphatase.		A6NDB1|B7Z491|F2Z330|Q8NEL1	Missense_Mutation	SNP	ENST00000370396.2	37	c.496G>T	CCDS14694.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.511390	0.85389	.	.	ENSG00000171100	ENST00000370396;ENST00000542741;ENST00000543350;ENST00000424519;ENST00000413012	D;D;D;D;D	0.96522	-2.65;-2.65;-2.65;-4.04;-2.65	5.27	5.27	0.74061	Myotubularin phosphatase domain (1);	0.120992	0.56097	D	0.000034	D	0.96870	0.8978	M	0.66560	2.04	0.51012	D	0.999905	P;B	0.45176	0.852;0.451	P;B	0.50617	0.646;0.18	D	0.97564	1.0100	10	0.87932	D	0	.	18.1936	0.89814	0.0:0.0:1.0:0.0	.	129;166	B7Z491;Q13496	.;MTM1_HUMAN	F	166;71;51;95;129	ENSP00000359423:V166F;ENSP00000444015:V71F;ENSP00000439784:V51F;ENSP00000400699:V95F;ENSP00000389157:V129F	ENSP00000359423:V166F	V	+	1	0	MTM1	149558125	1.000000	0.71417	0.935000	0.37517	0.977000	0.68977	3.571000	0.53841	2.321000	0.78463	0.594000	0.82650	GTT		0.363	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060847.3	NM_000252		4	206	1	0	0.0215528	1	0.0217452	4	206				
CYP27A1	1593	broad.mit.edu	37	2	219674325	219674325	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr2:219674325C>T	ENST00000258415.4	+	2	708	c.281C>T	c.(280-282)cCa>cTa	p.P94L		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	94					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol metabolic process (GO:0008203)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	cholestanetriol 26-monooxygenase activity (GO:0047749)|cholesterol 26-hydroxylase activity (GO:0031073)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Chenodeoxycholic acid(DB06777)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Pegvisomant(DB00082)	AAGTACGGTCCAATGTGGATG	0.557																																						ENST00000258415.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26						c.(280-282)cCa>cTa		cytochrome P450, family 27, subfamily A, polypeptide 1	Cholecalciferol(DB00169)						133.0	121.0	125.0					2																	219674325		2203	4300	6503	SO:0001583	missense	1593				bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding	g.chr2:219674325C>T	BC017044	CCDS2423.1	2q35	2013-09-19	2003-01-14		ENSG00000135929	ENSG00000135929		"""Cytochrome P450s"""	2605	protein-coding gene	gene with protein product	"""cerebrotendinous xanthomatosis"""	606530	"""cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1"""	CYP27		2019602	Standard	NM_000784		Approved	CTX, CP27	uc002viz.4	Q02318	OTTHUMG00000048238	ENST00000258415.4:c.281C>T	2.37:g.219674325C>T	ENSP00000258415:p.Pro94Leu						p.P94L	NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	2	708	+		Renal(207;0.0474)	94					A8K303|Q6LDB4|Q86YQ6	Missense_Mutation	SNP	ENST00000258415.4	37	c.281C>T	CCDS2423.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.370091	0.82573	.	.	ENSG00000135929	ENST00000258415	T	0.73897	-0.79	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.88209	0.6375	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.89445	0.3726	10	0.87932	D	0	-11.9623	18.7612	0.91851	0.0:1.0:0.0:0.0	.	94	Q02318	CP27A_HUMAN	L	94	ENSP00000258415:P94L	ENSP00000258415:P94L	P	+	2	0	CYP27A1	219382569	1.000000	0.71417	0.994000	0.49952	0.305000	0.27757	5.785000	0.68998	2.677000	0.91161	0.655000	0.94253	CCA		0.557	CYP27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109734.4			32	57	0	0	0	1	0	32	57				
TRPC5	7224	broad.mit.edu	37	X	111078162	111078162	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chrX:111078162T>C	ENST00000262839.2	-	7	2801	c.1883A>G	c.(1882-1884)tAt>tGt	p.Y628C		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	628					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AATAAGCTGATAGGAGTTGTT	0.438																																						ENST00000262839.2																			0				biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(1882-1884)tAt>tGt		transient receptor potential cation channel, subfamily C, member 5							236.0	185.0	203.0					X																	111078162		2203	4300	6503	SO:0001583	missense	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111078162T>C	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.1883A>G	X.37:g.111078162T>C	ENSP00000262839:p.Tyr628Cys						p.Y628C	NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN			7	2801	-			628					B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	ENST00000262839.2	37	c.1883A>G	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.325842	0.81580	.	.	ENSG00000072315	ENST00000262839	D	0.84298	-1.83	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.93044	0.7786	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.99	D	0.94145	0.7400	10	0.87932	D	0	-10.3953	14.8781	0.70510	0.0:0.0:0.0:1.0	.	629;628	Q59G51;Q9UL62	.;TRPC5_HUMAN	C	628	ENSP00000262839:Y628C	ENSP00000262839:Y628C	Y	-	2	0	TRPC5	110964818	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.993000	0.88291	1.895000	0.54865	0.441000	0.28932	TAT		0.438	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		8	236	0	0	0	1	0	8	236				
VPS13B	157680	broad.mit.edu	37	8	100133446	100133446	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr8:100133446C>T	ENST00000358544.2	+	8	1090	c.979C>T	c.(979-981)Cag>Tag	p.Q327*	VPS13B_ENST00000357162.2_Nonsense_Mutation_p.Q327*|CTD-2340D6.1_ENST00000523226.1_RNA|VPS13B_ENST00000395996.1_Nonsense_Mutation_p.Q327*|VPS13B_ENST00000355155.1_Nonsense_Mutation_p.Q327*|VPS13B_ENST00000441350.2_Nonsense_Mutation_p.Q327*	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	327					protein transport (GO:0015031)			p.Q327*(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATATCCTGCTCAGCATAAAGG	0.373																																					Colon(161;2205 2542 7338 31318)	ENST00000395996.1																			1	Substitution - Nonsense(1)	p.Q327*(1)	pancreas(1)	NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(979-981)Cag>Tag		vacuolar protein sorting 13 homolog B (yeast)							80.0	75.0	77.0					8																	100133446		2203	4300	6503	SO:0001587	stop_gained	157680				protein transport			g.chr8:100133446C>T	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.979C>T	8.37:g.100133446C>T	ENSP00000351346:p.Gln327*					VPS13B_ENST00000358544.2_Nonsense_Mutation_p.Q327*|VPS13B_ENST00000357162.2_Nonsense_Mutation_p.Q327*|VPS13B_ENST00000441350.2_Nonsense_Mutation_p.Q327*|VPS13B_ENST00000355155.1_Nonsense_Mutation_p.Q327*	p.Q327*			Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		8	1090	+	Breast(36;3.73e-07)		327					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Nonsense_Mutation	SNP	ENST00000358544.2	37	c.979C>T	CCDS6280.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.0|25.0	4.589538|4.589538	0.86851|0.86851	.|.	.|.	ENSG00000132549|ENSG00000132549	ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996;ENST00000441350|ENST00000524330	.|.	.|.	.|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	0.163239|.	0.40385|.	N|.	0.001114|.	.|T	.|0.75184	.|0.3815	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72944	.|-0.4138	.|3	0.52906|.	T|.	0.07|.	.|.	18.7562|18.7562	0.91833|0.91833	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	327|35	.|.	ENSP00000347281:Q327X|.	Q|S	+|+	1|2	0|0	VPS13B|VPS13B	100202622|100202622	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.804000|0.804000	0.45430|0.45430	3.330000|3.330000	0.52068|0.52068	2.686000|2.686000	0.91538|0.91538	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.373	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		5	40	0	0	0	1	0	5	40				
RAP1B	5908	broad.mit.edu	37	12	69042539	69042539	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr12:69042539G>A	ENST00000250559.9	+	2	266	c.35G>A	c.(34-36)gGa>gAa	p.G12E	RAP1B_ENST00000463493.1_Intron|RAP1B_ENST00000540209.1_Missense_Mutation_p.G12E|RAP1B_ENST00000537460.1_Missense_Mutation_p.G12E|RAP1B_ENST00000541216.1_Missense_Mutation_p.G12E|RAP1B_ENST00000393436.5_Missense_Mutation_p.G12E|RAP1B_ENST00000543697.1_Missense_Mutation_p.G12E|RAP1B_ENST00000341355.5_Missense_Mutation_p.G12E|RAP1B_ENST00000543393.1_Intron|RAP1B_ENST00000378985.3_Intron|RAP1B_ENST00000450214.2_Missense_Mutation_p.G12E|RAP1B_ENST00000539091.1_Missense_Mutation_p.G12E|RAP1B_ENST00000542145.1_Missense_Mutation_p.G12E	NM_001010942.2|NM_001251921.1|NM_001251922.1|NM_015646.5	NP_001010942.1|NP_001238850.1|NP_001238851.1|NP_056461.1	P61224	RAP1B_HUMAN	RAP1B, member of RAS oncogene family	12					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of establishment of cell polarity (GO:2000114)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2)	12	Breast(13;1.24e-05)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)		CTTGGCTCAGGAGGCGTTGGA	0.363																																						ENST00000250559.9																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2)	12						c.(34-36)gGa>gAa		RAP1B, member of RAS oncogene family							106.0	87.0	94.0					12																	69042539		2203	4300	6503	SO:0001583	missense	5908				blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion	cell-cell junction|cytosol	GDP binding|GTP binding|GTPase activity|protein binding	g.chr12:69042539G>A		CCDS8984.1, CCDS58252.1, CCDS58253.1, CCDS58254.1	12q14	2014-05-09			ENSG00000127314	ENSG00000127314			9857	protein-coding gene	gene with protein product		179530				3137530, 12089143	Standard	NM_015646		Approved	K-REV, RAL1B, DKFZp586H0723	uc001suc.3	P61224	OTTHUMG00000133660	ENST00000250559.9:c.35G>A	12.37:g.69042539G>A	ENSP00000250559:p.Gly12Glu					RAP1B_ENST00000537460.1_Missense_Mutation_p.G12E|RAP1B_ENST00000341355.5_Missense_Mutation_p.G12E|RAP1B_ENST00000543697.1_Missense_Mutation_p.G12E|RAP1B_ENST00000543393.1_Intron|RAP1B_ENST00000542145.1_Missense_Mutation_p.G12E|RAP1B_ENST00000541216.1_Missense_Mutation_p.G12E|RAP1B_ENST00000393436.5_Missense_Mutation_p.G12E|RAP1B_ENST00000378985.3_Intron|RAP1B_ENST00000450214.2_Missense_Mutation_p.G12E|RAP1B_ENST00000463493.1_Intron|RAP1B_ENST00000539091.1_Missense_Mutation_p.G12E|RAP1B_ENST00000540209.1_Missense_Mutation_p.G12E	p.G12E	NM_001010942.2|NM_001251921.1|NM_001251922.1|NM_015646.5	NP_001010942.1|NP_001238850.1|NP_001238851.1|NP_056461.1	P61224	RAP1B_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)	2	266	+	Breast(13;1.24e-05)		12					B2R5Z2|B4DQI8|B4DW74|B4DW94|P09526|Q502X3|Q5TZR4|Q6DCA1|Q6LES0	Missense_Mutation	SNP	ENST00000250559.9	37	c.35G>A	CCDS8984.1	.	.	.	.	.	.	.	.	.	.	G	34	5.389856	0.95988	.	.	ENSG00000127314	ENST00000250559;ENST00000393436;ENST00000425247;ENST00000422358;ENST00000541167;ENST00000538283;ENST00000341355;ENST00000537460;ENST00000450214;ENST00000545270;ENST00000542018;ENST00000534899;ENST00000453560;ENST00000540209;ENST00000540781;ENST00000539091;ENST00000542145;ENST00000485252;ENST00000456697;ENST00000538877;ENST00000543697;ENST00000545720;ENST00000541216	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14;-1.14;-1.14;-1.14;-0.51;-1.14;-1.14;-1.14;-1.14;-0.51;-1.14;-0.51;-1.14;-1.14;-1.14;-1.14;-1.14;-1.14	5.34	5.34	0.76211	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90693	0.7080	M	0.90019	3.08	0.80722	D	1	D;D;D;D	0.89917	1.0;0.994;1.0;1.0	D;D;D;D	0.97110	1.0;0.931;1.0;1.0	D	0.91315	0.5077	9	.	.	.	.	19.9349	0.97133	0.0:0.0:1.0:0.0	.	12;12;12;12	B4DW94;B4DW74;B4DQI8;P61224	.;.;.;RAP1B_HUMAN	E	12	ENSP00000250559:G12E;ENSP00000377085:G12E;ENSP00000401095:G12E;ENSP00000390972:G12E;ENSP00000445138:G12E;ENSP00000444786:G12E;ENSP00000441275:G12E;ENSP00000439966:G12E;ENSP00000399986:G12E;ENSP00000437415:G12E;ENSP00000438088:G12E;ENSP00000441952:G12E;ENSP00000444060:G12E;ENSP00000446318:G12E;ENSP00000440466:G12E;ENSP00000444830:G12E;ENSP00000440014:G12E;ENSP00000444924:G12E;ENSP00000440635:G12E;ENSP00000440708:G12E;ENSP00000438311:G12E;ENSP00000443851:G12E	.	G	+	2	0	RAP1B	67328806	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.880000	0.98712	0.650000	0.86243	GGA		0.363	RAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257821.3	NM_001010942		8	29	0	0	0	1	0	8	29				
SMC2	10592	broad.mit.edu	37	9	106864325	106864325	+	Silent	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr9:106864325C>T	ENST00000286398.7	+	8	1009	c.721C>T	c.(721-723)Ctg>Ttg	p.L241L	SMC2_ENST00000374787.3_Silent_p.L241L|SMC2_ENST00000374793.3_Silent_p.L241L|SMC2_ENST00000303219.8_Silent_p.L241L	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	241					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						TCAGTTTTTGCTGGCTGAAGA	0.333																																						ENST00000286398.7																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						c.(721-723)Ctg>Ttg		structural maintenance of chromosomes 2							93.0	103.0	100.0					9																	106864325		2203	4297	6500	SO:0001819	synonymous_variant	10592				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	g.chr9:106864325C>T	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.721C>T	9.37:g.106864325C>T						SMC2_ENST00000374793.3_Silent_p.L241L|SMC2_ENST00000374787.3_Silent_p.L241L|SMC2_ENST00000303219.8_Silent_p.L241L	p.L241L	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN			8	1009	+			241					Q6IEE0|Q9P1P2	Silent	SNP	ENST00000286398.7	37	c.721C>T	CCDS35086.1																																																																																				0.333	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			4	100	0	0	0	1	0	4	100				
TSSK1B	83942	broad.mit.edu	37	5	112769745	112769745	+	Silent	SNP	G	G	A	rs370148342		TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr5:112769745G>A	ENST00000390666.3	-	1	983	c.792C>T	c.(790-792)gaC>gaT	p.D264D	CTD-2201G3.1_ENST00000383058.4_RNA|MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000416046.2_RNA|CTD-2201G3.1_ENST00000510381.2_RNA	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	264	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	cytoplasmic vesicle (GO:0031410)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		TGAGGATCTCGTCGATGTGGA	0.617																																						ENST00000390666.3																			0				large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13						c.(790-792)gaC>gaT		testis-specific serine kinase 1B		G	,	0,4404		0,0,2202	44.0	42.0	42.0		,792	-0.4	0.1	5		42	2,8598	2.2+/-6.3	0,2,4298	no	intron,coding-synonymous	MCC,TSSK1B	NM_001085377.1,NM_032028.3	,	0,2,6500	AA,AG,GG		0.0233,0.0,0.0154	,	,264/368	112769745	2,13002	2202	4300	6502	SO:0001819	synonymous_variant	83942				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:112769745G>A	AF348076	CCDS4112.1	5q22.2	2008-10-23	2007-01-30	2007-01-30	ENSG00000212122	ENSG00000212122			14968	protein-coding gene	gene with protein product		610709	"""serine/threonine kinase 22D (spermiogenesis associated)"", ""testis-specific serine kinase 1"""	STK22D, TSSK1		15044604	Standard	NM_032028		Approved	SPOGA4, FKSG81	uc003kqm.2	Q9BXA7	OTTHUMG00000128835	ENST00000390666.3:c.792C>T	5.37:g.112769745G>A						MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000416046.2_RNA|CTD-2201G3.1_ENST00000383058.4_RNA	p.D264D	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)	1	983	-		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)	264			Protein kinase.		B2R8D9	Silent	SNP	ENST00000390666.3	37	c.792C>T	CCDS4112.1																																																																																				0.617	TSSK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250774.2	NM_032028		10	41	0	0	0	1	0	10	41				
KDM3B	51780	broad.mit.edu	37	5	137766020	137766020	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr5:137766020G>A	ENST00000314358.5	+	22	5176	c.4976G>A	c.(4975-4977)cGt>cAt	p.R1659H	KDM3B_ENST00000542866.1_Missense_Mutation_p.R691H|KDM3B_ENST00000394866.1_Missense_Mutation_p.R1315H	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1659	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CAGACCCTCCGTAAGCGACTC	0.517																																						ENST00000314358.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						c.(4975-4977)cGt>cAt		lysine (K)-specific demethylase 3B							138.0	128.0	132.0					5																	137766020		2203	4300	6503	SO:0001583	missense	51780				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr5:137766020G>A	AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.4976G>A	5.37:g.137766020G>A	ENSP00000326563:p.Arg1659His					KDM3B_ENST00000542866.1_Missense_Mutation_p.R691H|KDM3B_ENST00000394866.1_Missense_Mutation_p.R1315H	p.R1659H	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN			22	5176	+			1659			JmjC.		A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	ENST00000314358.5	37	c.4976G>A	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	G	36	5.631637	0.96682	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866;ENST00000542866	T;T;T	0.74002	-0.8;-0.8;-0.8	5.71	5.71	0.89125	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.85682	D	0.000000	D	0.89150	0.6633	M	0.88105	2.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.90413	0.4411	10	0.87932	D	0	-4.8933	19.8446	0.96704	0.0:0.0:1.0:0.0	.	1315;1659	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	H	1659;1449;1315;691	ENSP00000326563:R1659H;ENSP00000378335:R1315H;ENSP00000439462:R691H	ENSP00000326563:R1659H	R	+	2	0	KDM3B	137793919	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.808000	0.99193	2.698000	0.92095	0.655000	0.94253	CGT		0.517	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		28	131	0	0	0	1	0	28	131				
ACAN	176	broad.mit.edu	37	15	89400811	89400811	+	Silent	SNP	A	A	G			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr15:89400811A>G	ENST00000561243.1	+	11	4995	c.4995A>G	c.(4993-4995)acA>acG	p.T1665T	ACAN_ENST00000439576.2_Silent_p.T1665T|ACAN_ENST00000559004.1_Silent_p.T1665T|ACAN_ENST00000352105.7_Silent_p.T1665T			P16112	PGCA_HUMAN	aggrecan	1720	CS-2.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TGGATTCTACATTGGTGGAAG	0.537																																						ENST00000439576.2																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(4993-4995)acA>acG		aggrecan							141.0	142.0	141.0					15																	89400811		1970	4142	6112	SO:0001819	synonymous_variant	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89400811A>G	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.4995A>G	15.37:g.89400811A>G						ACAN_ENST00000561243.1_Silent_p.T1665T|ACAN_ENST00000352105.7_Silent_p.T1665T|ACAN_ENST00000559004.1_Silent_p.T1665T	p.T1665T	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	5369	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		1665					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Silent	SNP	ENST00000561243.1	37	c.4995A>G	CCDS53970.1																																																																																				0.537	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		32	162	0	0	0	1	0	32	162				
ZNF324	25799	broad.mit.edu	37	19	58982600	58982600	+	Silent	SNP	C	C	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr19:58982600C>A	ENST00000536459.2	+	4	1450	c.741C>A	c.(739-741)ggC>ggA	p.G247G	ZNF446_ENST00000596341.1_5'Flank|ZNF324_ENST00000535298.1_Silent_p.G24G|ZNF324_ENST00000196482.3_Silent_p.G247G			O75467	Z324A_HUMAN	zinc finger protein 324	247					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(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		ACGAGCTGGGCGAGGCTCTTC	0.637																																						ENST00000536459.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16						c.(739-741)ggC>ggA		zinc finger protein 324							24.0	26.0	26.0					19																	58982600		2200	4291	6491	SO:0001819	synonymous_variant	25799				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58982600C>A	AF060503	CCDS12981.1	19q13.43	2013-01-08				ENSG00000083812		"""Zinc fingers, C2H2-type"", ""-"""	14096	protein-coding gene	gene with protein product							Standard	NM_014347		Approved	ZF5128, ZNF324A	uc002qsw.2	O75467		ENST00000536459.2:c.741C>A	19.37:g.58982600C>A						ZNF324_ENST00000535298.1_Silent_p.G24G|ZNF324_ENST00000196482.3_Silent_p.G247G	p.G247G			O75467	Z324A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	4	1450	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	247					B3KRX1	Silent	SNP	ENST00000536459.2	37	c.741C>A	CCDS12981.1																																																																																				0.637	ZNF324-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467044.1	NM_014347		14	36	1	0	9.05144e-12	1	1.03314e-11	14	36				
MAGEB3	4114	broad.mit.edu	37	X	30254196	30254196	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chrX:30254196A>C	ENST00000361644.2	+	5	892	c.155A>C	c.(154-156)aAa>aCa	p.K52T		NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	52										NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						ACTATCCAGAAAAAGTCTGCT	0.458																																						ENST00000361644.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						c.(154-156)aAa>aCa		melanoma antigen family B, 3							37.0	32.0	33.0					X																	30254196		2202	4300	6502	SO:0001583	missense	4114							g.chrX:30254196A>C	AK057441	CCDS14220.1	Xp21.3	2009-03-17			ENSG00000198798	ENSG00000198798			6810	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 5"""	300152				9441743	Standard	NM_002365		Approved	CT3.5	uc004dca.2	O15480	OTTHUMG00000021320	ENST00000361644.2:c.155A>C	X.37:g.30254196A>C	ENSP00000355198:p.Lys52Thr					MAGEB3_ENST00000378986.1_Missense_Mutation_p.K52T	p.K52T	NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN			5	892	+			52					A0AVE4|B3KQ52|O75861	Missense_Mutation	SNP	ENST00000361644.2	37	c.155A>C	CCDS14220.1	.	.	.	.	.	.	.	.	.	.	A	5.219	0.225848	0.09916	.	.	ENSG00000198798	ENST00000378986;ENST00000361644	T;T	0.04706	3.57;3.57	3.41	-4.9	0.03094	Melanoma associated antigen, MAGE, N-terminal (1);	.	.	.	.	T	0.02610	0.0079	N	0.11927	0.2	0.09310	N	1	B	0.10296	0.003	B	0.15484	0.013	T	0.44205	-0.9343	9	0.59425	D	0.04	.	6.1973	0.20557	0.6035:0.1988:0.1977:0.0	.	52	O15480	MAGB3_HUMAN	T	52	ENSP00000368271:K52T;ENSP00000355198:K52T	ENSP00000355198:K52T	K	+	2	0	MAGEB3	30164117	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.940000	0.03929	-1.390000	0.02087	-0.502000	0.04539	AAA		0.458	MAGEB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056158.2	NM_002365		5	36	0	0	0	1	0	5	36				
SLC6A7	6534	broad.mit.edu	37	5	149576667	149576667	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr5:149576667G>T	ENST00000230671.2	+	4	783	c.412G>T	c.(412-414)Gcc>Tcc	p.A138S	SLC6A7_ENST00000524041.1_Missense_Mutation_p.A138S	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	138					proline transport (GO:0015824)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	CATGATCATCGCCTACGTGCT	0.617																																						ENST00000230671.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16						c.(412-414)Gcc>Tcc		solute carrier family 6 (neurotransmitter transporter), member 7	L-Proline(DB00172)						147.0	129.0	135.0					5																	149576667		2203	4300	6503	SO:0001583	missense	6534					integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity	g.chr5:149576667G>T	S80071	CCDS4305.1	5q32	2013-07-19	2013-07-19		ENSG00000011083	ENSG00000011083		"""Solute carriers"""	11054	protein-coding gene	gene with protein product	"""brain-specific L-proline transporter"", ""sodium-dependent proline transporter"""	606205	"""solute carrier family 6 (neurotransmitter transporter, L-proline), member 7"""			7651355	Standard	NM_014228		Approved	PROT	uc003lrr.3	Q99884	OTTHUMG00000130046	ENST00000230671.2:c.412G>T	5.37:g.149576667G>T	ENSP00000230671:p.Ala138Ser					SLC6A7_ENST00000524041.1_Missense_Mutation_p.A138S	p.A138S	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	783	+		all_hematologic(541;0.224)	138					Q0VG81|Q52LU6	Missense_Mutation	SNP	ENST00000230671.2	37	c.412G>T	CCDS4305.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.454051	0.84209	.	.	ENSG00000011083	ENST00000230671;ENST00000524041	T;T	0.78364	-1.17;-1.17	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.83903	0.5355	L	0.52573	1.65	0.52501	D	0.999953	P	0.52577	0.954	P	0.59825	0.864	D	0.83505	0.0077	10	0.45353	T	0.12	.	18.9559	0.92658	0.0:0.0:1.0:0.0	.	138	Q99884	SC6A7_HUMAN	S	138	ENSP00000230671:A138S;ENSP00000428200:A138S	ENSP00000230671:A138S	A	+	1	0	SLC6A7	149556860	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.450000	0.52957	2.487000	0.83934	0.655000	0.94253	GCC		0.617	SLC6A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252325.1	NM_014228		7	54	1	0	2.0095e-06	1	2.17295e-06	7	54				
DDX47	51202	broad.mit.edu	37	12	12977529	12977529	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr12:12977529T>C	ENST00000358007.3	+	9	975	c.953T>C	c.(952-954)cTa>cCa	p.L318P	DDX47_ENST00000352940.4_Missense_Mutation_p.L269P	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	318	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		TCCATTCTTCTAGCAACTGAC	0.428																																						ENST00000358007.3																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(952-954)cTa>cCa		DEAD (Asp-Glu-Ala-Asp) box polypeptide 47							143.0	129.0	133.0					12																	12977529		2203	4300	6503	SO:0001583	missense	51202					nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr12:12977529T>C	AK127712	CCDS8655.1, CCDS8656.1	12p13.2	2010-07-06			ENSG00000213782	ENSG00000213782		"""DEAD-boxes"""	18682	protein-coding gene	gene with protein product		615428					Standard	NM_016355		Approved	DKFZp564O176, FLJ30012, HQ0256, RRP3	uc001rax.3	Q9H0S4	OTTHUMG00000168709	ENST00000358007.3:c.953T>C	12.37:g.12977529T>C	ENSP00000350698:p.Leu318Pro					RP11-59H1.3_ENST00000534843.1_3'UTR|DDX47_ENST00000352940.4_Missense_Mutation_p.L269P	p.L318P	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0354)	9	975	+		Prostate(47;0.0526)	318			Helicase C-terminal.		B3KXP4|G5E955|Q96GM0|Q96NV8|Q9UI98	Missense_Mutation	SNP	ENST00000358007.3	37	c.953T>C	CCDS8655.1	.	.	.	.	.	.	.	.	.	.	T	29.5	5.007476	0.93287	.	.	ENSG00000213782	ENST00000352940;ENST00000358007	T;T	0.49139	0.79;3.38	5.61	5.61	0.85477	Helicase, C-terminal (3);	0.000000	0.64402	D	0.000002	T	0.72946	0.3524	M	0.90309	3.105	0.80722	D	1	P;P;D	0.57257	0.907;0.886;0.979	P;P;P	0.62649	0.863;0.847;0.905	T	0.79631	-0.1723	10	0.87932	D	0	-5.9321	16.1054	0.81216	0.0:0.0:0.0:1.0	.	318;269;318	Q9H4E3;G5E955;Q9H0S4	.;.;DDX47_HUMAN	P	269;318	ENSP00000319578:L269P;ENSP00000350698:L318P	ENSP00000319578:L269P	L	+	2	0	DDX47	12868796	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.701000	0.84566	2.266000	0.75297	0.533000	0.62120	CTA		0.428	DDX47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400674.1	NM_016355		15	55	0	0	0	1	0	15	55				
AKAP8L	26993	broad.mit.edu	37	19	15512056	15512056	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr19:15512056C>A	ENST00000397410.5	-	5	851	c.721G>T	c.(721-723)Gcc>Tcc	p.A241S	AKAP8L_ENST00000595465.2_Missense_Mutation_p.A180S|AKAP8L_ENST00000595879.1_5'UTR	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	241						cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						CCCGGGAAGGCGCCCCCACCT	0.642																																						ENST00000397410.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(721-723)Gcc>Tcc		A kinase (PRKA) anchor protein 8-like							97.0	114.0	108.0					19																	15512056		1962	4139	6101	SO:0001583	missense	26993					cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding	g.chr19:15512056C>A	BC000713	CCDS46005.1	19p13.12	2013-10-16			ENSG00000011243	ENSG00000011243			29857	protein-coding gene	gene with protein product	"""neighbor of A kinase anchoring protein 95"""	609475				10748171, 10761695	Standard	XM_005259854		Approved	NAKAP95, HAP95	uc002naw.1	Q9ULX6	OTTHUMG00000182446	ENST00000397410.5:c.721G>T	19.37:g.15512056C>A	ENSP00000380557:p.Ala241Ser					AKAP8L_ENST00000595465.1_Missense_Mutation_p.A180S|AKAP8L_ENST00000595136.1_5'UTR	p.A241S	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN			5	785	-			241					B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	Missense_Mutation	SNP	ENST00000397410.5	37	c.721G>T	CCDS46005.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.734960	0.30774	.	.	ENSG00000011243	ENST00000397410	T	0.42900	0.96	3.36	-0.0421	0.13865	.	0.239738	0.32093	N	0.006591	T	0.18257	0.0438	N	0.08118	0	0.29243	N	0.872497	B;B;B;B	0.26147	0.026;0.143;0.044;0.026	B;B;B;B	0.30105	0.031;0.111;0.069;0.031	T	0.22591	-1.0212	10	0.16896	T	0.51	-7.948	6.4856	0.22087	0.0:0.7885:0.0:0.2115	.	180;11;241;241	B4DJ74;Q9UF73;B3KMD4;Q9ULX6	.;.;.;AKP8L_HUMAN	S	241	ENSP00000380557:A241S	ENSP00000380557:A241S	A	-	1	0	AKAP8L	15373056	0.547000	0.26465	0.970000	0.41538	0.754000	0.42855	-0.008000	0.12788	0.082000	0.17018	0.491000	0.48974	GCC		0.642	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461301.2	NM_014371		42	247	1	0	8.20599e-20	1	9.65913e-20	42	247				
PSG11	5680	broad.mit.edu	37	19	43528980	43528980	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr19:43528980C>T	ENST00000401740.1	-	2	396	c.293G>A	c.(292-294)cGa>cAa	p.R98Q	PSG11_ENST00000403486.1_Intron|PSG11_ENST00000320078.7_Missense_Mutation_p.R98Q|PSG11_ENST00000306322.7_Intron			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	98	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				TACTGTTTCTCGTCCACTGTA	0.448																																						ENST00000401740.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(292-294)cGa>cAa		pregnancy specific beta-1-glycoprotein 11							221.0	207.0	212.0					19																	43528980		2199	4298	6497	SO:0001583	missense	5680				female pregnancy	extracellular region		g.chr19:43528980C>T	U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9516	protein-coding gene	gene with protein product	"""pregnancy specific beta-1-glycoprotein 13"""	176401		PSG13, PSG14		7794280	Standard	NM_001113410		Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.293G>A	19.37:g.43528980C>T	ENSP00000384995:p.Arg98Gln					PSG11_ENST00000403486.1_Intron|PSG11_ENST00000320078.7_Missense_Mutation_p.R98Q|PSG11_ENST00000306322.7_Intron	p.R98Q			Q9UQ72	PSG11_HUMAN			2	396	-		Prostate(69;0.00682)	98			Ig-like V-type.		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000401740.1	37	c.293G>A	CCDS12614.2	.	.	.	.	.	.	.	.	.	.	c	13.64	2.298150	0.40694	.	.	ENSG00000243130	ENST00000320078;ENST00000401740	T;T	0.72282	-0.64;-0.64	0.929	0.929	0.19449	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.82806	0.5117	M	0.88031	2.925	0.22926	N	0.998559	D	0.89917	1.0	D	0.97110	1.0	T	0.67917	-0.5546	9	0.66056	D	0.02	.	5.2086	0.15304	0.0:1.0:0.0:0.0	.	98	Q9UQ72	PSG11_HUMAN	Q	98	ENSP00000319140:R98Q;ENSP00000384995:R98Q	ENSP00000319140:R98Q	R	-	2	0	PSG11	48220820	0.000000	0.05858	0.244000	0.24202	0.103000	0.19146	0.148000	0.16224	0.795000	0.33922	0.184000	0.17185	CGA		0.448	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323079.1	NM_002785		68	259	0	0	0	1	0	68	259				
IQSEC1	9922	broad.mit.edu	37	3	12977263	12977263	+	Missense_Mutation	SNP	C	C	T	rs565538660	byFrequency	TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr3:12977263C>T	ENST00000273221.4	-	3	1511	c.1295G>A	c.(1294-1296)cGg>cAg	p.R432Q	IQSEC1_ENST00000473088.1_5'Flank	NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	432					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGGCTCCTCCCGGGGGAGGCT	0.682													C|||	2	0.000399361	0.0008	0.0	5008	,	,		14696	0.0		0.0	False		,,,				2504	0.001					ENST00000273221.4																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1294-1296)cGg>cAg		IQ motif and Sec7 domain 1							18.0	22.0	21.0					3																	12977263		2196	4293	6489	SO:0001583	missense	9922				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity	g.chr3:12977263C>T	BC010267	CCDS33703.1, CCDS74902.1	3p25.2	2011-09-23			ENSG00000144711	ENSG00000144711			29112	protein-coding gene	gene with protein product	"""brefeldin A-resistant ARF-GEF2"""	610166				9872452, 8619474	Standard	NM_001134382		Approved	KIAA0763, GEP100, BRAG2, ARF-GEP100	uc011auw.2	Q6DN90	OTTHUMG00000155398	ENST00000273221.4:c.1295G>A	3.37:g.12977263C>T	ENSP00000273221:p.Arg432Gln						p.R432Q	NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN			3	1511	-			432					O94863|Q96D85	Missense_Mutation	SNP	ENST00000273221.4	37	c.1295G>A	CCDS33703.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.713647	0.48517	.	.	ENSG00000144711	ENST00000273221;ENST00000435445;ENST00000429247	T;T	0.48201	0.82;0.82	4.71	4.71	0.59529	.	0.144444	0.46442	D	0.000282	T	0.52500	0.1738	.	.	.	0.46927	D	0.999257	D;D;D	0.76494	0.999;0.991;0.998	P;P;P	0.55749	0.783;0.484;0.744	T	0.41574	-0.9501	9	0.13470	T	0.59	.	16.0185	0.80460	0.0:1.0:0.0:0.0	.	418;418;432	E9PG60;C9JMG9;Q6DN90	.;.;IQEC1_HUMAN	Q	432;418;418	ENSP00000273221:R432Q;ENSP00000402299:R418Q	ENSP00000273221:R432Q	R	-	2	0	IQSEC1	12952263	1.000000	0.71417	0.709000	0.30452	0.014000	0.08584	7.281000	0.78621	2.428000	0.82296	0.655000	0.94253	CGG		0.682	IQSEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339865.2	NM_014869		5	22	0	0	0	1	0	5	22				
NRK	203447	broad.mit.edu	37	X	105152868	105152868	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chrX:105152868C>A	ENST00000243300.9	+	13	1538	c.1235C>A	c.(1234-1236)gCa>gAa	p.A412E	NRK_ENST00000428173.2_Missense_Mutation_p.A413E	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	412	Gln-rich.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CTACAGGGAGCAGCCAGGGTA	0.592										HNSCC(51;0.14)																												ENST00000428173.2																			0				breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						c.(1237-1239)gCa>gAa		Nik related kinase							52.0	54.0	53.0					X																	105152868		2071	4191	6262	SO:0001583	missense	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105152868C>A	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.1235C>A	X.37:g.105152868C>A	ENSP00000434830:p.Ala412Glu	HNSCC(51;0.14)				NRK_ENST00000243300.9_Missense_Mutation_p.A412E	p.A413E			Q7Z2Y5	NRK_HUMAN			13	1541	+			412			Gln-rich.		Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37	c.1238C>A		.	.	.	.	.	.	.	.	.	.	C	15.94	2.980685	0.53827	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.26373	1.74;1.74	5.05	2.23	0.28157	.	0.000000	0.49916	D	0.000128	T	0.19087	0.0458	L	0.53249	1.67	0.80722	D	1	B;B	0.23540	0.087;0.02	B;B	0.25759	0.063;0.012	T	0.04915	-1.0918	10	0.10111	T	0.7	.	6.3968	0.21616	0.3253:0.5822:0.0:0.0925	.	80;412	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	E	412;413	ENSP00000434830:A412E;ENSP00000438378:A413E	ENSP00000434830:A412E	A	+	2	0	NRK	105039524	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	0.309000	0.19332	0.587000	0.29643	0.600000	0.82982	GCA		0.592	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		13	74	1	0	4.36969e-10	1	4.91318e-10	13	74				
FN3KRP	79672	broad.mit.edu	37	17	80685036	80685036	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr17:80685036C>A	ENST00000269373.6	+	6	992	c.919C>A	c.(919-921)Ctg>Atg	p.L307M	FN3KRP_ENST00000535965.1_Missense_Mutation_p.L257M|RP11-388C12.5_ENST00000570919.1_lincRNA	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	307							kinase activity (GO:0016301)			breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			CATGAGGAATCTGGTCAAGTG	0.493																																						ENST00000269373.6																			0				breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7						c.(919-921)Ctg>Atg		fructosamine 3 kinase related protein							77.0	79.0	78.0					17																	80685036		2203	4300	6503	SO:0001583	missense	79672						kinase activity	g.chr17:80685036C>A	AY360465	CCDS11817.1	17q25.3	2014-08-12			ENSG00000141560	ENSG00000141560			25700	protein-coding gene	gene with protein product		611683				14633848	Standard	NM_024619		Approved	FLJ12171, FN3KL	uc002kfu.3	Q9HA64	OTTHUMG00000177846	ENST00000269373.6:c.919C>A	17.37:g.80685036C>A	ENSP00000269373:p.Leu307Met					FN3KRP_ENST00000535965.1_Missense_Mutation_p.L257M	p.L307M	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)		6	992	+	Breast(20;0.000523)|all_neural(118;0.0952)		307					Q969F4|Q9H0U7	Missense_Mutation	SNP	ENST00000269373.6	37	c.919C>A	CCDS11817.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.968240	0.34754	.	.	ENSG00000141560	ENST00000269373;ENST00000535965	T;T	0.54479	0.57;0.57	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.80576	0.4649	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84272	0.0489	10	0.72032	D	0.01	-33.1288	19.6844	0.95976	0.0:1.0:0.0:0.0	.	307	Q9HA64	KT3K_HUMAN	M	307;257	ENSP00000269373:L307M;ENSP00000444994:L257M	ENSP00000269373:L307M	L	+	1	2	FN3KRP	78278325	0.998000	0.40836	0.970000	0.41538	0.596000	0.36781	3.885000	0.56182	2.761000	0.94854	0.655000	0.94253	CTG		0.493	FN3KRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439219.1	NM_024619		12	88	1	0	0.0135373	1	0.0137194	12	88				
PLXNA3	55558	broad.mit.edu	37	X	153696270	153696270	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chrX:153696270C>T	ENST00000369682.3	+	21	3921	c.3746C>T	c.(3745-3747)gCg>gTg	p.A1249V		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1249					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACTCAGGACGCGGACCGTACC	0.672																																						ENST00000369682.3																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48						c.(3745-3747)gCg>gTg		plexin A3							58.0	57.0	57.0					X																	153696270		2203	4300	6503	SO:0001583	missense	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153696270C>T	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.3746C>T	X.37:g.153696270C>T	ENSP00000358696:p.Ala1249Val						p.A1249V	NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN			21	3921	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1249					Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	37	c.3746C>T	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.353580	0.82243	.	.	ENSG00000130827	ENST00000369682	T	0.01159	5.25	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.03783	0.0107	M	0.77103	2.36	0.80722	D	1	D	0.57571	0.98	P	0.48738	0.588	T	0.45498	-0.9257	10	0.56958	D	0.05	.	15.5445	0.76086	0.0:1.0:0.0:0.0	.	1249	P51805	PLXA3_HUMAN	V	1249	ENSP00000358696:A1249V	ENSP00000358696:A1249V	A	+	2	0	PLXNA3	153349464	0.991000	0.36638	0.853000	0.33588	0.803000	0.45373	2.977000	0.49297	1.998000	0.58463	0.436000	0.28706	GCG		0.672	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		8	75	0	0	0	1	0	8	75				
PCDHB3	56132	broad.mit.edu	37	5	140480924	140480924	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr5:140480924C>A	ENST00000231130.2	+	1	691	c.691C>A	c.(691-693)Cag>Aag	p.Q231K	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	231	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GATAAACATCCAGGTCTTAGA	0.537																																						ENST00000231130.2																			0				NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72						c.(691-693)Cag>Aag									45.0	48.0	47.0					5																	140480924		2203	4300	6503	SO:0001583	missense	56132				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140480924C>A	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.691C>A	5.37:g.140480924C>A	ENSP00000231130:p.Gln231Lys					AC005754.7_ENST00000607216.1_RNA	p.Q231K	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	691	+			231			Cadherin 2.		B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.691C>A	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	C	0.091	-1.166839	0.01660	.	.	ENSG00000113205	ENST00000231130	T	0.49432	0.78	4.87	-1.99	0.07457	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.21387	0.0515	N	0.11341	0.13	0.09310	N	1	B	0.20368	0.044	B	0.29524	0.103	T	0.29274	-1.0017	9	0.08837	T	0.75	.	2.8991	0.05700	0.2233:0.2432:0.3895:0.1441	.	231	Q9Y5E6	PCDB3_HUMAN	K	231	ENSP00000231130:Q231K	ENSP00000231130:Q231K	Q	+	1	0	PCDHB3	140461108	0.000000	0.05858	0.000000	0.03702	0.498000	0.33706	-1.730000	0.01855	-0.709000	0.05008	0.655000	0.94253	CAG		0.537	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		7	115	1	0	8.12818e-05	1	8.54404e-05	7	115				
PCDHGA5	56110	broad.mit.edu	37	5	140745676	140745676	+	Silent	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr5:140745676G>A	ENST00000518069.1	+	1	1779	c.1779G>A	c.(1777-1779)gcG>gcA	p.A593A	PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	593	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGGTAGCGGTGGACAAAG	0.652																																						ENST00000518069.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18						c.(1777-1779)gcG>gcA									78.0	88.0	85.0					5																	140745676		2203	4300	6503	SO:0001819	synonymous_variant	56110							g.chr5:140745676G>A	AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.1779G>A	5.37:g.140745676G>A						PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron	p.A593A	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1779	+								Q2M3F5|Q9Y5D2	Silent	SNP	ENST00000518069.1	37	c.1779G>A	CCDS54925.1																																																																																				0.652	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918		32	146	0	0	0	1	0	32	146				
NEK5	341676	broad.mit.edu	37	13	52646189	52646189	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr13:52646189A>C	ENST00000355568.4	-	21	1954	c.1815T>G	c.(1813-1815)aaT>aaG	p.N605K		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	605					positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		TCAAAGTTTCATTTGGTATAT	0.328																																						ENST00000355568.4																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39						c.(1813-1815)aaT>aaG		NIMA-related kinase 5							105.0	96.0	99.0					13																	52646189		2203	4300	6503	SO:0001583	missense	341676						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr13:52646189A>C	BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)-related kinase 5"""			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.1815T>G	13.37:g.52646189A>C	ENSP00000347767:p.Asn605Lys						p.N605K	NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN		GBM - Glioblastoma multiforme(99;3.7e-08)	21	1954	-		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	605					Q5TAP5	Missense_Mutation	SNP	ENST00000355568.4	37	c.1815T>G	CCDS31979.1	.	.	.	.	.	.	.	.	.	.	A	16.29	3.080579	0.55753	.	.	ENSG00000197168	ENST00000355568	T	0.79141	-1.24	5.04	1.28	0.21552	.	0.087537	0.46442	D	0.000282	T	0.65831	0.2729	M	0.63843	1.955	0.23459	N	0.997631	B	0.30584	0.286	B	0.20384	0.029	T	0.58880	-0.7558	10	0.56958	D	0.05	.	2.6851	0.05105	0.6004:0.0:0.2063:0.1933	.	605	Q6P3R8	NEK5_HUMAN	K	605	ENSP00000347767:N605K	ENSP00000347767:N605K	N	-	3	2	NEK5	51544190	0.995000	0.38212	0.401000	0.26359	0.883000	0.51084	0.612000	0.24283	0.256000	0.21614	0.377000	0.23210	AAT		0.328	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045045.3	NM_199289		5	21	0	0	0	1	0	5	21				
COL6A6	131873	broad.mit.edu	37	3	130284217	130284217	+	Missense_Mutation	SNP	C	C	A	rs372078727		TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr3:130284217C>A	ENST00000358511.6	+	3	1072	c.1041C>A	c.(1039-1041)aaC>aaA	p.N347K	COL6A6_ENST00000453409.2_Missense_Mutation_p.N347K	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	347	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CAGAAGACAACGTGACAAAAG	0.557																																						ENST00000358511.6																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(1039-1041)aaC>aaA		collagen, type VI, alpha 6							173.0	182.0	179.0					3																	130284217		1986	4164	6150	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130284217C>A	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.1041C>A	3.37:g.130284217C>A	ENSP00000351310:p.Asn347Lys					COL6A6_ENST00000453409.2_Missense_Mutation_p.N347K	p.N347K	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN			3	1072	+			347			Nonhelical region.|VWFA 2.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.1041C>A	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	c	7.055	0.565325	0.13498	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.82711	-1.64;-1.64	5.01	-2.66	0.06077	von Willebrand factor, type A (3);	0.086517	0.49916	D	0.000129	T	0.79341	0.4429	L	0.47716	1.5	0.18873	N	0.999981	P	0.52842	0.956	P	0.52909	0.713	T	0.73049	-0.4105	10	0.08381	T	0.77	.	13.7887	0.63126	0.0:0.2714:0.0:0.7286	.	347	A6NMZ7	CO6A6_HUMAN	K	347	ENSP00000351310:N347K;ENSP00000399236:N347K	ENSP00000351310:N347K	N	+	3	2	COL6A6	131766907	0.029000	0.19370	0.266000	0.24541	0.008000	0.06430	-1.016000	0.03633	-0.891000	0.03940	-0.215000	0.12644	AAC		0.557	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		34	219	1	0	2.87052e-16	1	3.34401e-16	34	219				
TIE1	7075	broad.mit.edu	37	1	43772858	43772858	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr1:43772858C>A	ENST00000372476.3	+	5	765	c.686C>A	c.(685-687)cCa>cAa	p.P229Q	TIE1_ENST00000441333.2_Missense_Mutation_p.P229Q|TIE1_ENST00000538015.1_Missense_Mutation_p.P229Q|TIE1_ENST00000433781.2_5'Flank	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	229	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.P229Q(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AAGGAGTGCCCAGGTTGCCTA	0.632																																						ENST00000372476.3																			1	Substitution - Missense(1)	p.P229Q(1)	lung(1)	breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70						c.(685-687)cCa>cAa		tyrosine kinase with immunoglobulin-like and EGF-like domains 1							66.0	64.0	65.0					1																	43772858		2203	4300	6503	SO:0001583	missense	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43772858C>A	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.686C>A	1.37:g.43772858C>A	ENSP00000361554:p.Pro229Gln					TIE1_ENST00000441333.2_Missense_Mutation_p.P229Q|TIE1_ENST00000538015.1_Missense_Mutation_p.P229Q	p.P229Q	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN			5	765	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	229			EGF-like 1.		B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	c.686C>A	CCDS482.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.293837	0.60086	.	.	ENSG00000066056	ENST00000372476;ENST00000441333;ENST00000538015	T;T;T	0.69040	-0.37;2.03;-0.37	5.32	5.32	0.75619	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.39909	N	0.001240	T	0.76428	0.3986	L	0.39898	1.24	0.80722	D	1	P;D;D;P	0.89917	0.506;0.999;1.0;0.567	B;D;D;B	0.87578	0.074;0.981;0.998;0.1	T	0.78473	-0.2190	10	0.72032	D	0.01	.	17.2299	0.86982	0.0:1.0:0.0:0.0	.	184;229;229;229	B4DTW8;B5A952;B5A950;P35590	.;.;.;TIE1_HUMAN	Q	229	ENSP00000361554:P229Q;ENSP00000401903:P229Q;ENSP00000440063:P229Q	ENSP00000361554:P229Q	P	+	2	0	TIE1	43545445	1.000000	0.71417	0.998000	0.56505	0.812000	0.45895	5.263000	0.65507	2.505000	0.84491	0.556000	0.70494	CCA		0.632	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		40	66	1	0	1.59361e-14	1	1.83753e-14	40	66				
CAD	790	broad.mit.edu	37	2	27459689	27459689	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr2:27459689C>T	ENST00000403525.1	+	26	4342	c.4198C>T	c.(4198-4200)Cga>Tga	p.R1400*	CAD_ENST00000264705.4_Nonsense_Mutation_p.R1463*			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.R1463*(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAAGCTTGTGCGACTGCCGGG	0.572																																						ENST00000264705.4																			1	Substitution - Nonsense(1)	p.R1463*(1)	lung(1)	NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(4387-4389)Cga>Tga		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						116.0	112.0	113.0					2																	27459689		2203	4300	6503	SO:0001587	stop_gained	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27459689C>T	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.4198C>T	2.37:g.27459689C>T	ENSP00000384510:p.Arg1400*					CAD_ENST00000403525.1_Nonsense_Mutation_p.R1400*	p.R1463*	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN			27	4549	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1463			DHOase (dihydroorotase).		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Nonsense_Mutation	SNP	ENST00000403525.1	37	c.4387C>T		.	.	.	.	.	.	.	.	.	.	C	26.2	4.714658	0.89112	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-6.8307	13.1411	0.59436	0.16:0.84:0.0:0.0	.	.	.	.	X	1463;1400	.	ENSP00000264705:R1463X	R	+	1	2	CAD	27313193	1.000000	0.71417	0.997000	0.53966	0.944000	0.59088	5.268000	0.65536	2.622000	0.88805	0.561000	0.74099	CGA		0.572	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			4	162	0	0	0	1	0	4	162				
A2M	2	broad.mit.edu	37	12	9229471	9229471	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr12:9229471C>T	ENST00000318602.7	-	28	3720	c.3413G>A	c.(3412-3414)gGg>gAg	p.G1138E	A2M_ENST00000542567.1_5'Flank	NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1138					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	GCCATGGTCCCCTTCTTGTGC	0.498																																						ENST00000318602.7																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77						c.(3412-3414)gGg>gAg		alpha-2-macroglobulin	Bacitracin(DB00626)|Becaplermin(DB00102)						123.0	125.0	124.0					12																	9229471		2203	4300	6503	SO:0001583	missense	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9229471C>T	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.3413G>A	12.37:g.9229471C>T	ENSP00000323929:p.Gly1138Glu						p.G1138E	NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN			28	3720	-			1138					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	c.3413G>A	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	C	6.852	0.526455	0.13066	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.31247	1.5	5.62	4.72	0.59763	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.109676	0.41396	D	0.000882	T	0.26810	0.0656	L	0.38838	1.175	0.32715	N	0.511101	B	0.19817	0.039	B	0.33690	0.168	T	0.24657	-1.0154	10	0.37606	T	0.19	.	8.8146	0.34987	0.1473:0.7748:0.0:0.0779	.	1138	P01023	A2MG_HUMAN	E	1138;1153	ENSP00000323929:G1138E	ENSP00000323929:G1138E	G	-	2	0	A2M	9120738	0.002000	0.14202	0.185000	0.23176	0.011000	0.07611	0.861000	0.27885	2.665000	0.90641	0.585000	0.79938	GGG		0.498	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		30	104	0	0	0	1	0	30	104				
KIAA1468	57614	broad.mit.edu	37	18	59972701	59972701	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr18:59972701G>C	ENST00000398130.2	+	29	3817	c.3585G>C	c.(3583-3585)ttG>ttC	p.L1195F	KIAA1468_ENST00000256858.6_Missense_Mutation_p.L1229F	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	1195										autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				CCAAGTTTTTGAACAAAATGG	0.358																																						ENST00000256858.6																			0				autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47						c.(3685-3687)ttG>ttC		KIAA1468							134.0	137.0	136.0					18																	59972701		2203	4300	6503	SO:0001583	missense	57614						binding	g.chr18:59972701G>C	BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.3585G>C	18.37:g.59972701G>C	ENSP00000381198:p.Leu1195Phe					KIAA1468_ENST00000398130.2_Missense_Mutation_p.L1195F	p.L1229F			Q9P260	K1468_HUMAN			30	3935	+		Colorectal(73;0.186)	1195						Missense_Mutation	SNP	ENST00000398130.2	37	c.3687G>C	CCDS11979.2	.	.	.	.	.	.	.	.	.	.	G	15.28	2.785961	0.49997	.	.	ENSG00000134444	ENST00000398130;ENST00000256858	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.75817	0.3901	L	0.50333	1.59	0.58432	D	0.999999	P;D	0.89917	0.956;1.0	P;D	0.91635	0.833;0.999	T	0.72928	-0.4143	8	.	.	.	-1.8058	19.6008	0.95560	0.0:0.0:1.0:0.0	.	1229;1195	Q9P260-2;Q9P260	.;K1468_HUMAN	F	1195;1229	.	.	L	+	3	2	KIAA1468	58123681	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.751000	0.55165	2.632000	0.89209	0.563000	0.77884	TTG		0.358	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256187.1	NM_020854		25	128	0	0	0	1	0	25	128				
POLR2A	5430	broad.mit.edu	37	17	7399626	7399626	+	Silent	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr17:7399626C>T	ENST00000322644.6	+	3	723	c.324C>T	c.(322-324)cgC>cgT	p.R108R	POLR2A_ENST00000572844.1_Silent_p.R108R	NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	108					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)|regulation of transcription, DNA-templated (GO:0006355)|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)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				AAGTTTTGCGCTGTGTCTGCT	0.562																																						ENST00000322644.6																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50						c.(322-324)cgC>cgT		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa							224.0	214.0	217.0					17																	7399626		2203	4300	6503	SO:0001819	synonymous_variant	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|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|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7399626C>T			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.324C>T	17.37:g.7399626C>T						POLR2A_ENST00000572844.1_Silent_p.R108R	p.R108R	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN			3	723	+		Prostate(122;0.173)	108					A6NN93|B9EH88|Q6NX41	Silent	SNP	ENST00000322644.6	37	c.324C>T	CCDS32548.1																																																																																				0.562	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		30	163	0	0	0	1	0	30	163				
PKD1	5310	broad.mit.edu	37	16	2159044	2159044	+	Missense_Mutation	SNP	C	C	T	rs556681288		TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr16:2159044C>T	ENST00000262304.4	-	15	6332	c.6124G>A	c.(6124-6126)Gcc>Acc	p.A2042T	PKD1_ENST00000561991.1_5'Flank|PKD1_ENST00000423118.1_Missense_Mutation_p.A2042T	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2042	PKD 16. {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						GCGTTGAAGGCGCGCACCTGG	0.682													c|||	1	0.000199681	0.0	0.0	5008	,	,		15926	0.001		0.0	False		,,,				2504	0.0					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.(6124-6126)Gcc>Acc		polycystic kidney disease 1 (autosomal dominant)							25.0	29.0	28.0					16																	2159044		2190	4290	6480	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.chr16:2159044C>T	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.6124G>A	16.37:g.2159044C>T	ENSP00000262304:p.Ala2042Thr					PKD1_ENST00000423118.1_Missense_Mutation_p.A2042T	p.A2042T	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			15	6332	-			2042			PKD 16.		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.6124G>A	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	c	18.98	3.738151	0.69304	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000382481	T;T	0.69175	-0.38;-0.38	5.49	5.49	0.81192	PKD/Chitinase domain (1);Polycystin cation channel (1);PKD domain (2);	0.055199	0.64402	D	0.000001	T	0.82135	0.4971	M	0.72894	2.215	0.51482	D	0.999929	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.83400	0.0022	10	0.72032	D	0.01	.	19.4518	0.94871	0.0:1.0:0.0:0.0	.	2042;2042	P98161-3;P98161	.;PKD1_HUMAN	T	2042;2042;321	ENSP00000262304:A2042T;ENSP00000399501:A2042T	ENSP00000262304:A2042T	A	-	1	0	PKD1	2099045	1.000000	0.71417	0.954000	0.39281	0.351000	0.29236	7.322000	0.79097	2.597000	0.87782	0.544000	0.68410	GCC		0.682	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			3	19	0	0	0	1	0	3	19				
KLF10	7071	broad.mit.edu	37	8	103664140	103664140	+	Silent	SNP	G	G	A	rs147912564		TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr8:103664140G>A	ENST00000285407.6	-	3	720	c.420C>T	c.(418-420)agC>agT	p.S140S	KLF10_ENST00000395884.3_Silent_p.S129S	NM_005655.2	NP_005646.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	140					bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular response to peptide (GO:1901653)|cellular response to starvation (GO:0009267)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoclast differentiation (GO:0045672)|regulation of circadian rhythm (GO:0042752)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			CAGATACTGGGCTCTTTTCTT	0.498											OREG0018913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0008	0.0	5008	,	,		16419	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(16;495 519 2144 16528 44005)	ENST00000395884.3																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18						c.(385-387)agC>agT		Kruppel-like factor 10							76.0	85.0	82.0					8																	103664140		2203	4300	6503	SO:0001819	synonymous_variant	7071				cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:103664140G>A	U21847	CCDS6294.1, CCDS47905.1	8q22.3	2014-09-17	2004-11-29	2004-12-01	ENSG00000155090	ENSG00000155090		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	11810	protein-coding gene	gene with protein product		601878	"""TGFB inducible early growth response"""	TIEG		8584037, 9721211	Standard	NM_001032282		Approved	EGRA, TIEG1	uc011lhk.1	Q13118	OTTHUMG00000164735	ENST00000285407.6:c.420C>T	8.37:g.103664140G>A			OREG0018913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1375	KLF10_ENST00000285407.6_Silent_p.S140S	p.S129S	NM_001032282.2	NP_001027453.1	Q13118	KLF10_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)		3	1289	-	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		140					A8MVH0|B2R794|L0R4P6|L0R679|O75411|Q503B2	Silent	SNP	ENST00000285407.6	37	c.387C>T	CCDS6294.1																																																																																				0.498	KLF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379967.1			56	105	0	0	0	1	0	56	105				
ASAP3	55616	broad.mit.edu	37	1	23759684	23759684	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr1:23759684C>T	ENST00000336689.3	-	22	2253	c.2209G>A	c.(2209-2211)Gcc>Acc	p.A737T	ASAP3_ENST00000437606.2_Missense_Mutation_p.A728T|ASAP3_ENST00000495646.1_Missense_Mutation_p.A241T	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	737					cell migration (GO:0016477)|positive regulation of ARF GTPase activity (GO:0032850)|regulation of stress fiber assembly (GO:0051492)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						CCCAGGCTGGCGACAGTCTCA	0.607																																						ENST00000336689.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						c.(2209-2211)Gcc>Acc		ArfGAP with SH3 domain, ankyrin repeat and PH domain 3							83.0	89.0	87.0					1																	23759684		2203	4300	6503	SO:0001583	missense	55616				regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding	g.chr1:23759684C>T	AK000206	CCDS235.1, CCDS44087.1	1p36.13	2013-01-10	2008-10-09	2008-09-22	ENSG00000088280	ENSG00000088280		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	14987	protein-coding gene	gene with protein product	"""centaurin, beta 6"""		"""development and differentiation enhancing factor-like 1"""	DDEFL1		14654939	Standard	NM_017707		Approved	FLJ20199, UPLC1, CENTB6	uc001bha.2	Q8TDY4	OTTHUMG00000003234	ENST00000336689.3:c.2209G>A	1.37:g.23759684C>T	ENSP00000338769:p.Ala737Thr					ASAP3_ENST00000437606.2_Missense_Mutation_p.A728T|ASAP3_ENST00000484906.1_5'UTR|ASAP3_ENST00000495646.1_Missense_Mutation_p.A241T	p.A737T	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN			22	2253	-			737					B3KRW0|B4DHH4|Q6P9F4|Q86UY1|Q9NXK2	Missense_Mutation	SNP	ENST00000336689.3	37	c.2209G>A	CCDS235.1	.	.	.	.	.	.	.	.	.	.	C	3.795	-0.042804	0.07452	.	.	ENSG00000088280	ENST00000538685;ENST00000495646;ENST00000336689;ENST00000465372;ENST00000437606	T;T;T	0.52754	2.08;0.65;0.66	4.69	-8.9	0.00782	.	3.204770	0.00582	N	0.000335	T	0.27697	0.0681	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.13594	0.003;0.001;0.008;0.002	B;B;B;B	0.06405	0.001;0.002;0.001;0.001	T	0.18241	-1.0343	10	0.15952	T	0.53	.	12.2842	0.54783	0.0:0.2754:0.0876:0.637	.	728;627;260;737	Q8TDY4-3;B4DRP2;Q9NXH7;Q8TDY4	.;.;.;ASAP3_HUMAN	T	260;241;737;64;728	ENSP00000436150:A241T;ENSP00000338769:A737T;ENSP00000408826:A728T	ENSP00000338769:A737T	A	-	1	0	ASAP3	23632271	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-2.345000	0.01097	-2.793000	0.00355	-2.069000	0.00389	GCC		0.607	ASAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008916.2	NM_017707		4	122	0	0	0	1	0	4	122				
CRYGS	1427	broad.mit.edu	37	3	186257301	186257301	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr3:186257301C>T	ENST00000392499.2	-	3	446	c.107G>A	c.(106-108)cGc>cAc	p.R36H	CRYGS_ENST00000307944.5_Missense_Mutation_p.R36H	NM_017541.2	NP_060011.1	P22914	CRBS_HUMAN	crystallin, gamma S	36	Beta/gamma crystallin 'Greek key' 1. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens development in camera-type eye (GO:0002088)|morphogenesis of an epithelium (GO:0002009)		structural constituent of eye lens (GO:0005212)			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	11	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)	GBM - Glioblastoma multiforme(93;0.0906)		GGAGTTGCAGCGACTTAGGTA	0.463																																						ENST00000392499.2																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	11						c.(106-108)cGc>cAc		crystallin, gamma S							111.0	96.0	101.0					3																	186257301		2203	4300	6503	SO:0001583	missense	1427						structural constituent of eye lens	g.chr3:186257301C>T		CCDS3275.1	3q27.3	2013-02-14			ENSG00000213139	ENSG00000213139			2417	protein-coding gene	gene with protein product	"""crystallin, gamma 8"""	123730		CRYG8			Standard	NM_017541		Approved		uc003fqe.3	P22914	OTTHUMG00000156615	ENST00000392499.2:c.107G>A	3.37:g.186257301C>T	ENSP00000376287:p.Arg36His					CRYGS_ENST00000307944.5_Missense_Mutation_p.R36H	p.R36H	NM_017541.2	NP_060011.1	P22914	CRBS_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)	GBM - Glioblastoma multiforme(93;0.0906)	3	446	-	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		36			Beta/gamma crystallin 'Greek key' 1.		B2RAF8	Missense_Mutation	SNP	ENST00000392499.2	37	c.107G>A	CCDS3275.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936015	0.73442	.	.	ENSG00000213139	ENST00000392499;ENST00000307944	T;T	0.77358	-1.09;-1.09	6.17	4.39	0.52855	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.076758	0.52532	U	0.000063	T	0.81983	0.4938	M	0.76433	2.335	0.49130	D	0.999757	D	0.65815	0.995	P	0.52514	0.701	T	0.82705	-0.0325	10	0.66056	D	0.02	.	10.6943	0.45890	0.0:0.8475:0.0:0.1525	.	36	P22914	CRBS_HUMAN	H	36	ENSP00000376287:R36H;ENSP00000312099:R36H	ENSP00000312099:R36H	R	-	2	0	CRYGS	187739995	1.000000	0.71417	0.970000	0.41538	0.997000	0.91878	4.686000	0.61700	0.941000	0.37499	0.655000	0.94253	CGC		0.463	CRYGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344784.1	NM_017541		14	75	0	0	0	1	0	14	75				
ZNF449	203523	broad.mit.edu	37	X	134481370	134481370	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chrX:134481370G>C	ENST00000339249.4	+	2	467	c.327G>C	c.(325-327)caG>caC	p.Q109H	ZNF449_ENST00000370760.3_Missense_Mutation_p.Q109H|ZNF449_ENST00000370761.3_Missense_Mutation_p.Q109H	NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	109	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				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(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AAGACTTACAGAGAGAACTTG	0.473																																						ENST00000339249.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23						c.(325-327)caG>caC		zinc finger protein 449							68.0	59.0	62.0					X																	134481370		2203	4300	6503	SO:0001583	missense	203523				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:134481370G>C	AY280801	CCDS14649.1	Xq26.3	2013-01-09			ENSG00000173275	ENSG00000173275		"""-"", ""Zinc fingers, C2H2-type"""	21039	protein-coding gene	gene with protein product		300627					Standard	NM_152695		Approved	ZSCAN19, FLJ23614	uc004eys.3	Q6P9G9	OTTHUMG00000022478	ENST00000339249.4:c.327G>C	X.37:g.134481370G>C	ENSP00000339585:p.Gln109His					ZNF449_ENST00000370760.3_Missense_Mutation_p.Q109H|ZNF449_ENST00000370761.3_Missense_Mutation_p.Q109H	p.Q109H	NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN			2	467	+	Acute lymphoblastic leukemia(192;6.56e-05)		109			SCAN box.		Q5JRZ7|Q5JRZ8|Q6NZX2|Q8N3Q1|Q8TED7	Missense_Mutation	SNP	ENST00000339249.4	37	c.327G>C	CCDS14649.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.484632	0.44147	.	.	ENSG00000173275	ENST00000370761;ENST00000339249;ENST00000370760	T;T;T	0.04603	3.59;3.59;3.59	4.6	3.74	0.42951	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.41001	D	0.000969	T	0.12774	0.0310	L	0.46885	1.475	0.31249	N	0.694249	D;D;B	0.89917	0.997;1.0;0.307	D;D;B	0.85130	0.997;0.997;0.2	T	0.01697	-1.1293	10	0.72032	D	0.01	.	7.3801	0.26851	0.1175:0.0:0.8825:0.0	.	109;109;109	Q6P9G9;Q6P9G9-2;Q6P9G9-3	ZN449_HUMAN;.;.	H	109	ENSP00000359797:Q109H;ENSP00000339585:Q109H;ENSP00000359796:Q109H	ENSP00000339585:Q109H	Q	+	3	2	ZNF449	134309036	0.999000	0.42202	1.000000	0.80357	0.980000	0.70556	1.859000	0.39418	1.285000	0.44548	0.594000	0.82650	CAG		0.473	ZNF449-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058411.1	NM_152695		9	55	0	0	0	1	0	9	55				
MIA3	375056	broad.mit.edu	37	1	222802715	222802715	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr1:222802715C>G	ENST00000344922.5	+	4	2178	c.2153C>G	c.(2152-2154)tCt>tGt	p.S718C	MIA3_ENST00000344441.6_Missense_Mutation_p.S718C|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000470521.1_3'UTR	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	718					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GCTTTCCTTTCTAAAGTAGAA	0.443																																						ENST00000344922.5																			0				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80						c.(2152-2154)tCt>tGt		melanoma inhibitory activity family, member 3							89.0	88.0	88.0					1																	222802715		1954	4152	6106	SO:0001583	missense	375056				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:222802715C>G		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.2153C>G	1.37:g.222802715C>G	ENSP00000340900:p.Ser718Cys					MIA3_ENST00000344507.1_Intron|MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Missense_Mutation_p.S718C	p.S718C	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	4	2178	+			718					A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	c.2153C>G	CCDS41470.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.08|11.08	1.534739|1.534739	0.27475|0.27475	.|.	.|.	ENSG00000154305|ENSG00000154305	ENST00000354906|ENST00000344922;ENST00000344441;ENST00000320831	.|T;T	.|0.04603	.|3.59;3.59	4.79|4.79	1.79|1.79	0.24919|0.24919	.|.	.|.	.|.	.|.	.|.	T|T	0.05686|0.05686	0.0149|0.0149	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	.|P;P	.|0.42010	.|0.768;0.657	.|B;B	.|0.44163	.|0.443;0.258	T|T	0.35649|0.35649	-0.9780|-0.9780	5|9	.|0.52906	.|T	.|0.07	.|.	6.4635|6.4635	0.21970|0.21970	0.1309:0.6536:0.0:0.2154|0.1309:0.6536:0.0:0.2154	.|.	.|718;718	.|Q5JRA6-2;Q5JRA6	.|.;MIA3_HUMAN	L|C	300|718	.|ENSP00000340900:S718C;ENSP00000340587:S718C	.|ENSP00000325973:S718C	F|S	+|+	3|2	2|0	MIA3|MIA3	220869338|220869338	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.106000|0.106000	0.19336|0.19336	0.083000|0.083000	0.14871|0.14871	0.532000|0.532000	0.28657|0.28657	0.313000|0.313000	0.20887|0.20887	TTC|TCT		0.443	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		9	117	0	0	0	1	0	9	117				
ZACN	353174	broad.mit.edu	37	17	74076046	74076046	+	Silent	SNP	C	C	G			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr17:74076046C>G	ENST00000334586.5	+	4	428	c.345C>G	c.(343-345)ctC>ctG	p.L115L	ZACN_ENST00000392503.2_Intron|EXOC7_ENST00000591724.1_5'Flank	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	115					ion transmembrane transport (GO:0034220)|response to zinc ion (GO:0010043)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)|ligand-gated ion channel activity (GO:0015276)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						GGGAGTCTCTCTGGACACCAA	0.607																																						ENST00000334586.5																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						c.(343-345)ctC>ctG		zinc activated ligand-gated ion channel							37.0	34.0	35.0					17																	74076046		2201	4299	6500	SO:0001819	synonymous_variant	353174				response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr17:74076046C>G	AK122638	CCDS11740.2	17q25.3	2012-01-18	2008-04-17	2008-04-17	ENSG00000186919	ENSG00000186919		"""Ligand-gated ion channels / Zinc activated channels"""	29504	protein-coding gene	gene with protein product		610935	"""ligand-gated ion channel, zinc activated 1"""	LGICZ1		12381728, 16083862	Standard	NM_180990		Approved	LGICZ, L2, ZAC, ZAC1	uc002jqn.2	Q401N2	OTTHUMG00000157186	ENST00000334586.5:c.345C>G	17.37:g.74076046C>G						ZACN_ENST00000392503.2_Intron	p.L115L	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN			4	428	+			115					Q2TB29|Q6ZWK3|Q86YW4	Silent	SNP	ENST00000334586.5	37	c.345C>G	CCDS11740.2																																																																																				0.607	ZACN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347827.2	NM_180990		3	10	0	0	0	1	0	3	10				
JPH1	56704	broad.mit.edu	37	8	75157339	75157339	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr8:75157339C>A	ENST00000342232.4	-	4	1370	c.1330G>T	c.(1330-1332)Gaa>Taa	p.E444*	JPH1_ENST00000518195.1_5'Flank	NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	444					calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GGTGGCTTTTCTGGTACCTTT	0.443																																						ENST00000342232.4																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24						c.(1330-1332)Gaa>Taa		junctophilin 1							144.0	135.0	138.0					8																	75157339		2203	4300	6503	SO:0001587	stop_gained	56704				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr8:75157339C>A	AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.1330G>T	8.37:g.75157339C>A	ENSP00000344488:p.Glu444*						p.E444*	NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		4	1370	-	Breast(64;0.00576)		444					B2RTZ0	Nonsense_Mutation	SNP	ENST00000342232.4	37	c.1330G>T	CCDS6217.1	.	.	.	.	.	.	.	.	.	.	C	38	6.719512	0.97788	.	.	ENSG00000104369	ENST00000342232	.	.	.	5.24	4.35	0.52113	.	0.290613	0.38164	N	0.001793	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	.	14.3424	0.66636	0.0:0.7177:0.2823:0.0	.	.	.	.	X	444	.	ENSP00000344488:E444X	E	-	1	0	JPH1	75319893	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	4.099000	0.57755	1.410000	0.46936	0.655000	0.94253	GAA		0.443	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379102.1			22	101	1	0	2.32416e-17	1	2.72155e-17	22	101				
DAB2IP	153090	broad.mit.edu	37	9	124526081	124526081	+	Silent	SNP	C	C	T	rs375557765		TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr9:124526081C>T	ENST00000408936.3	+	8	1565	c.1383C>T	c.(1381-1383)gcC>gcT	p.A461A	DAB2IP_ENST00000309989.1_Silent_p.A337A|DAB2IP_ENST00000259371.2_Silent_p.A433A			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	461	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						AGTGCTCGGCCGCTGACCTCC	0.577																																						ENST00000408936.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(1381-1383)gcC>gcT		DAB2 interacting protein		C	,	1,4405	2.1+/-5.4	0,1,2202	121.0	106.0	111.0		1299,1011	0.3	0.2	9		111	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	DAB2IP	NM_032552.2,NM_138709.1	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	433/1133,337/1066	124526081	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	153090				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity	g.chr9:124526081C>T	AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"""nGAP-like protein"", ""DOC-2/DAB2 interactive protein"", ""ASK-interacting protein"", ""ASK1-interacting protein 1"""	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.1383C>T	9.37:g.124526081C>T						DAB2IP_ENST00000259371.2_Silent_p.A433A|DAB2IP_ENST00000309989.1_Silent_p.A337A	p.A461A			Q5VWQ8	DAB2P_HUMAN			8	1565	+			461			Ras-GAP.		A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Silent	SNP	ENST00000408936.3	37	c.1383C>T																																																																																					0.577	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317857.1	NM_032552		33	66	0	0	0	1	0	33	66				
SLC12A9	56996	broad.mit.edu	37	7	100452263	100452263	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr7:100452263G>T	ENST00000354161.3	+	3	328	c.203G>T	c.(202-204)gGg>gTg	p.G68V	SLC12A9_ENST00000428758.1_Missense_Mutation_p.G68V|RP11-126L15.4_ENST00000412754.1_RNA|SLC12A9_ENST00000415287.1_Intron|SLC12A9_ENST00000275729.3_Intron|SLC12A9_ENST00000540482.1_Missense_Mutation_p.G68V	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	68					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGTCATGCTGGGCTACTGCAG	0.627																																						ENST00000354161.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41						c.(202-204)gGg>gTg		solute carrier family 12, member 9							102.0	85.0	91.0					7																	100452263		2203	4300	6503	SO:0001583	missense	56996					integral to membrane|plasma membrane	cation:chloride symporter activity	g.chr7:100452263G>T	AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"""Solute carriers"""	17435	protein-coding gene	gene with protein product	"""cation-chloride cotransporter-interacting protein"""					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.203G>T	7.37:g.100452263G>T	ENSP00000275730:p.Gly68Val					SLC12A9_ENST00000415287.1_Intron|SLC12A9_ENST00000275729.3_Intron|SLC12A9_ENST00000428758.1_Missense_Mutation_p.G68V|SLC12A9_ENST00000540482.1_Missense_Mutation_p.G68V	p.G68V	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN			3	328	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		68					B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Missense_Mutation	SNP	ENST00000354161.3	37	c.203G>T	CCDS5707.1	.	.	.	.	.	.	.	.	.	.	G	18.28	3.588833	0.66105	.	.	ENSG00000146828	ENST00000540482;ENST00000428758;ENST00000354161;ENST00000434158	D;D;D;D	0.99394	-5.82;-5.82;-5.82;-5.82	4.59	4.59	0.56863	Amino acid permease domain (1);	0.000000	0.64402	D	0.000002	D	0.99588	0.9851	H	0.96833	3.89	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97832	1.0263	10	0.87932	D	0	.	12.8711	0.57965	0.0:0.0:1.0:0.0	.	68	Q9BXP2	S12A9_HUMAN	V	68	ENSP00000443702:G68V;ENSP00000408301:G68V;ENSP00000275730:G68V;ENSP00000408571:G68V	ENSP00000275730:G68V	G	+	2	0	SLC12A9	100290199	1.000000	0.71417	1.000000	0.80357	0.503000	0.33858	9.340000	0.97038	2.100000	0.63781	0.205000	0.17691	GGG		0.627	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246		17	77	1	0	2.23348e-06	1	2.40365e-06	17	77				
NIPAL4	348938	broad.mit.edu	37	5	156899532	156899532	+	Missense_Mutation	SNP	G	G	A	rs372279928		TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr5:156899532G>A	ENST00000311946.7	+	6	1081	c.965G>A	c.(964-966)cGg>cAg	p.R322Q	ADAM19_ENST00000430702.2_Intron|NIPAL4_ENST00000435489.2_Missense_Mutation_p.R303Q	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	322						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						CCAGTTGTCCGGCACCCGCTC	0.562											OREG0016979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000311946.7																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						c.(964-966)cGg>cAg		NIPA-like domain containing 4		G	GLN/ARG,GLN/ARG	0,4074		0,0,2037	138.0	141.0	140.0		965,908	3.3	1.0	5		140	1,8359		0,1,4179	no	missense,missense	NIPAL4	NM_001099287.1,NM_001172292.1	43,43	0,1,6216	AA,AG,GG		0.012,0.0,0.0080	benign,benign	322/467,303/448	156899532	1,12433	2037	4180	6217	SO:0001583	missense	348938					integral to membrane	receptor activity	g.chr5:156899532G>A	AK026158	CCDS47328.1, CCDS54944.1	5q33.3	2009-03-24	2009-03-24		ENSG00000172548	ENSG00000172548			28018	protein-coding gene	gene with protein product	"""ichthyin"""	609383	"""NIPA-like 4"""			8619474, 9110174, 15317751	Standard	NM_001099287		Approved	ICHYN	uc003lwx.4	Q0D2K0	OTTHUMG00000163497	ENST00000311946.7:c.965G>A	5.37:g.156899532G>A	ENSP00000311687:p.Arg322Gln		OREG0016979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1782	NIPAL4_ENST00000435489.2_Missense_Mutation_p.R303Q|ADAM19_ENST00000430702.2_Intron	p.R322Q	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN			6	1081	+			322					A8S6F1|A8S6F5|A8S6F8|B4DLF3|Q0D2J8|Q0D2J9	Missense_Mutation	SNP	ENST00000311946.7	37	c.965G>A	CCDS47328.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.695666	0.30052	0.0	1.2E-4	ENSG00000172548	ENST00000435489;ENST00000311946	D;D	0.90133	-2.62;-2.62	6.04	3.28	0.37604	.	0.593854	0.18709	N	0.133349	T	0.78604	0.4309	N	0.17474	0.49	0.26617	N	0.972737	B;B	0.25169	0.055;0.119	B;B	0.21546	0.009;0.035	T	0.63888	-0.6535	10	0.21014	T	0.42	-21.6465	4.2261	0.10580	0.3324:0.163:0.5046:0.0	.	303;322	Q0D2K0-2;Q0D2K0	.;NIPA4_HUMAN	Q	303;322	ENSP00000406456:R303Q;ENSP00000311687:R322Q	ENSP00000311687:R322Q	R	+	2	0	NIPAL4	156832110	0.931000	0.31567	0.982000	0.44146	0.625000	0.37756	1.789000	0.38724	0.873000	0.35799	0.561000	0.74099	CGG		0.562	NIPAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373789.1	NM_001099287		5	169	0	0	0	1	0	5	169				
ABCA1	19	broad.mit.edu	37	9	107591253	107591253	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr9:107591253T>C	ENST00000374736.3	-	15	2453	c.2059A>G	c.(2059-2061)Att>Gtt	p.I687V	ABCA1_ENST00000494467.1_5'UTR	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	687					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	AGGCTACTAATGAACCAGCTA	0.532																																						ENST00000374736.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(2059-2061)Att>Gtt		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						131.0	103.0	113.0					9																	107591253		2203	4300	6503	SO:0001583	missense	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107591253T>C	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.2059A>G	9.37:g.107591253T>C	ENSP00000363868:p.Ile687Val					ABCA1_ENST00000494467.1_5'UTR	p.I687V	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	15	2453	-			687					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	c.2059A>G	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	T	17.52	3.410255	0.62399	.	.	ENSG00000165029	ENST00000374736	D	0.84298	-1.83	6.02	3.56	0.40772	.	0.140479	0.64402	N	0.000005	T	0.78521	0.4296	L	0.33339	1.005	0.80722	D	1	B	0.31893	0.345	B	0.37346	0.247	T	0.72330	-0.4326	10	0.48119	T	0.1	.	8.3781	0.32455	0.1185:0.0647:0.0:0.8168	.	687	O95477	ABCA1_HUMAN	V	687	ENSP00000363868:I687V	ENSP00000363868:I687V	I	-	1	0	ABCA1	106631074	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	5.166000	0.64965	0.452000	0.26830	0.533000	0.62120	ATT		0.532	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		22	47	0	0	0	1	0	22	47				
BSN	8927	broad.mit.edu	37	3	49698235	49698235	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr3:49698235G>A	ENST00000296452.4	+	6	9071	c.8957G>A	c.(8956-8958)cGc>cAc	p.R2986H		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2986					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		ATCACACAACGCAAAGAGTCT	0.557																																						ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(8956-8958)cGc>cAc		bassoon presynaptic cytomatrix protein							43.0	46.0	45.0					3																	49698235		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49698235G>A	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.8957G>A	3.37:g.49698235G>A	ENSP00000296452:p.Arg2986His						p.R2986H	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	6	9071	+			2986					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.8957G>A	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.484678	0.44147	.	.	ENSG00000164061	ENST00000296452	T	0.52526	0.66	4.64	4.64	0.57946	.	0.000000	0.64402	D	0.000001	T	0.68714	0.3031	M	0.71206	2.165	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.73920	-0.3830	10	0.87932	D	0	-13.0281	17.5278	0.87805	0.0:0.0:1.0:0.0	.	2986	Q9UPA5	BSN_HUMAN	H	2986	ENSP00000296452:R2986H	ENSP00000296452:R2986H	R	+	2	0	BSN	49673239	1.000000	0.71417	1.000000	0.80357	0.658000	0.38924	9.869000	0.99810	2.132000	0.65825	0.561000	0.74099	CGC		0.557	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		15	33	0	0	0	1	0	15	33				
PDGFB	5155	broad.mit.edu	37	22	39627811	39627811	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr22:39627811G>A	ENST00000331163.6	-	4	1059	c.272C>T	c.(271-273)cCg>cTg	p.P91L	PDGFB_ENST00000381551.4_Missense_Mutation_p.P76L	NM_002608.2	NP_002599.1	P01127	PDGFB_HUMAN	platelet-derived growth factor beta polypeptide	91					actin cytoskeleton organization (GO:0030036)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|branching involved in salivary gland morphogenesis (GO:0060445)|cell chemotaxis (GO:0060326)|cell growth (GO:0016049)|cell projection assembly (GO:0030031)|cellular response to growth factor stimulus (GO:0071363)|cellular response to mycophenolic acid (GO:0071506)|DNA replication (GO:0006260)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|extracellular matrix organization (GO:0030198)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|metanephric glomerular endothelium development (GO:0072264)|metanephric glomerular mesangial cell development (GO:0072255)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|monocyte chemotaxis (GO:0002548)|negative regulation of cell migration (GO:0030336)|negative regulation of phosphatidylinositol biosynthetic process (GO:0010512)|negative regulation of platelet activation (GO:0010544)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|paracrine signaling (GO:0038001)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of DNA replication (GO:0045740)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of metanephric mesenchymal cell migration (GO:2000591)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to wounding (GO:0009611)|substrate-dependent cell migration (GO:0006929)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|collagen binding (GO:0005518)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|superoxide-generating NADPH oxidase activator activity (GO:0016176)		COL1A1/PDGFB(429)	central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Melanoma(58;0.04)					GATCATGGCCGGCTCAGCAAT	0.652			T	COL1A1	DFSP																																	ENST00000331163.6				Dom	yes		22	22q12.3-q13.1	5155	T	platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)			M	COL1A1		DFSP	COL1A1/PDGFB(429)	0				central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)	7						c.(271-273)cCg>cTg		platelet-derived growth factor beta polypeptide	Becaplermin(DB00102)						39.0	34.0	36.0					22																	39627811		2203	4300	6503	SO:0001583	missense	5155				activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway	basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity	g.chr22:39627811G>A		CCDS13987.1, CCDS33650.1	22q13.1	2012-10-02	2011-05-19		ENSG00000100311	ENSG00000100311			8800	protein-coding gene	gene with protein product	"""oncogene SIS"", ""becaplermin"""	190040	"""platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)"""	SIS		2991848, 1661670	Standard	NM_002608		Approved	SSV	uc003axf.3	P01127	OTTHUMG00000151029	ENST00000331163.6:c.272C>T	22.37:g.39627811G>A	ENSP00000330382:p.Pro91Leu					PDGFB_ENST00000381551.4_Missense_Mutation_p.P76L	p.P91L	NM_002608.2	NP_002599.1	P01127	PDGFB_HUMAN			4	1059	-	Melanoma(58;0.04)		91					G3XAG8|P78431|Q15354|Q6FHE7|Q9UF23	Missense_Mutation	SNP	ENST00000331163.6	37	c.272C>T	CCDS13987.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.760893	0.69763	.	.	ENSG00000100311	ENST00000331163;ENST00000381551;ENST00000455790;ENST00000440375	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.27	4.25	0.50352	Platelet-derived growth factor, N-terminal (1);Platelet-derived growth factor (PDGF) (1);	0.220901	0.47455	N	0.000240	T	0.58595	0.2133	M	0.69823	2.125	0.52099	D	0.999942	D;D	0.89917	1.0;1.0	D;D	0.69654	0.914;0.965	T	0.60687	-0.7214	10	0.66056	D	0.02	-0.037	8.7579	0.34656	0.0762:0.0:0.7742:0.1496	.	91;76	P01127;G3XAG8	PDGFB_HUMAN;.	L	91;76;60;60	ENSP00000330382:P91L;ENSP00000370963:P76L;ENSP00000402306:P60L;ENSP00000405780:P60L	ENSP00000330382:P91L	P	-	2	0	PDGFB	37957757	0.997000	0.39634	0.927000	0.36925	0.673000	0.39480	2.592000	0.46171	1.205000	0.43262	0.462000	0.41574	CCG		0.652	PDGFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321043.1	NM_002608		9	22	0	0	0	1	0	9	22				
THOC2	57187	broad.mit.edu	37	X	122799667	122799667	+	Silent	SNP	A	A	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chrX:122799667A>T	ENST00000245838.8	-	12	1243	c.1212T>A	c.(1210-1212)gcT>gcA	p.A404A	THOC2_ENST00000491737.1_Silent_p.A289A|THOC2_ENST00000355725.4_Silent_p.A404A	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	404					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GTGAGCCTTTAGCACCTTTAG	0.308																																						ENST00000245838.8																			0				breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						c.(1210-1212)gcT>gcA		THO complex 2							131.0	116.0	121.0					X																	122799667		1819	4071	5890	SO:0001819	synonymous_variant	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122799667A>T	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.1212T>A	X.37:g.122799667A>T						THOC2_ENST00000355725.4_Silent_p.A404A|THOC2_ENST00000491737.1_Silent_p.A289A	p.A404A	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN			12	1243	-			404					A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Silent	SNP	ENST00000245838.8	37	c.1212T>A	CCDS43988.1																																																																																				0.308	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			24	114	0	0	0	1	0	24	114				
WHSC1	7468	broad.mit.edu	37	4	1957799	1957799	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr4:1957799T>G	ENST00000382895.3	+	17	3196	c.2765T>G	c.(2764-2766)tTc>tGc	p.F922C	WHSC1_ENST00000508803.1_Missense_Mutation_p.F922C|WHSC1_ENST00000382888.3_Missense_Mutation_p.F270C|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382892.2_Missense_Mutation_p.F922C|WHSC1_ENST00000382891.5_Missense_Mutation_p.F922C	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	922	PWWP 2. {ECO:0000255|PROSITE- ProRule:PRU00162}.				anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		CCTGTGTTTTTCTTTGGGTCT	0.498			T	IGH@	MM																																	ENST00000382895.3				Dom	yes		4	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)			L	IGH@		MM		0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48						c.(2764-2766)tTc>tGc		Wolf-Hirschhorn syndrome candidate 1							150.0	174.0	166.0					4																	1957799		2203	4300	6503	SO:0001583	missense	7468				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr4:1957799T>G	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.2765T>G	4.37:g.1957799T>G	ENSP00000372351:p.Phe922Cys					WHSC1_ENST00000382891.5_Missense_Mutation_p.F922C|WHSC1_ENST00000508803.1_Missense_Mutation_p.F922C|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Missense_Mutation_p.F270C|WHSC1_ENST00000382892.2_Missense_Mutation_p.F922C	p.F922C	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	17	3196	+		all_epithelial(65;1.34e-05)	922			PWWP 2.		A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	ENST00000382895.3	37	c.2765T>G	CCDS33940.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.6|24.6	4.547761|4.547761	0.86022|0.86022	.|.	.|.	ENSG00000109685|ENSG00000109685	ENST00000508803;ENST00000382891;ENST00000382892;ENST00000382895;ENST00000382888|ENST00000514329	T;T;T;T;T|T	0.56776|0.70631	0.44;0.44;0.44;0.44;0.44|-0.5	5.76|5.76	5.76|5.76	0.90799|0.90799	PWWP (3);|.	0.000000|0.000000	0.64402|0.64402	D|D	0.000008|0.000008	D|D	0.84813|0.84813	0.5555|0.5555	M|M	0.91510|0.91510	3.215|3.215	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.999|.	D|D	0.84571|0.84571	0.0655|0.0655	10|8	0.87932|0.22706	D|T	0|0.39	.|.	16.087|16.087	0.81065|0.81065	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	270;922|.	A2A2T2;O96028|.	.;NSD2_HUMAN|.	C|L	922;922;922;922;270|245	ENSP00000423972:F922C;ENSP00000372347:F922C;ENSP00000372348:F922C;ENSP00000372351:F922C;ENSP00000372344:F270C|ENSP00000425094:F245L	ENSP00000372344:F270C|ENSP00000425094:F245L	F|F	+|+	2|3	0|2	WHSC1|WHSC1	1927597|1927597	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.877000|7.877000	0.87225|0.87225	2.202000|2.202000	0.70862|0.70862	0.533000|0.533000	0.62120|0.62120	TTC|TTT		0.498	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330		70	395	0	0	0	1	0	70	395				
MRPL19	9801	broad.mit.edu	37	2	75879657	75879657	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr2:75879657C>T	ENST00000393909.2	+	4	374	c.349C>T	c.(349-351)Ctt>Ttt	p.L117F	MRPL19_ENST00000358788.6_Missense_Mutation_p.L117F|MRPL19_ENST00000409374.1_Missense_Mutation_p.L117F	NM_014763.3	NP_055578.2	P49406	RM19_HUMAN	mitochondrial ribosomal protein L19	117					translation (GO:0006412)	mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(1)|lung(6)	8						AGGAAGTATTCTTCGTGTTAC	0.383																																						ENST00000393909.2																			0				kidney(1)|large_intestine(1)|lung(6)	8						c.(349-351)Ctt>Ttt		mitochondrial ribosomal protein L19							126.0	115.0	119.0					2																	75879657		1832	4077	5909	SO:0001583	missense	9801				translation	mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome	g.chr2:75879657C>T	AB051621	CCDS1960.2	2p11.1-q11.2	2012-09-13			ENSG00000115364	ENSG00000115364		"""Mitochondrial ribosomal proteins / large subunits"""	14052	protein-coding gene	gene with protein product	"""39S ribosomal protein L19"""	611832				11543634, 17309879	Standard	XM_006712155		Approved	MRP-L15, RPML15, KIAA0104, RLX1	uc002snl.3	P49406	OTTHUMG00000129990	ENST00000393909.2:c.349C>T	2.37:g.75879657C>T	ENSP00000377486:p.Leu117Phe					MRPL19_ENST00000358788.6_Missense_Mutation_p.L117F|MRPL19_ENST00000409374.1_Missense_Mutation_p.L117F	p.L117F	NM_014763.3	NP_055578.2	P49406	RM19_HUMAN			4	374	+			117					Q53TX9|Q96Q52	Missense_Mutation	SNP	ENST00000393909.2	37	c.349C>T	CCDS1960.2	.	.	.	.	.	.	.	.	.	.	C	21.8	4.199271	0.79015	.	.	ENSG00000115364	ENST00000393909;ENST00000409374	.	.	.	5.39	5.39	0.77823	Translation protein SH3-like (1);	0.000000	0.85682	D	0.000000	D	0.86100	0.5852	M	0.92169	3.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89080	0.3475	9	0.87932	D	0	-26.2384	17.0358	0.86474	0.0:1.0:0.0:0.0	.	117	P49406	RM19_HUMAN	F	117	.	ENSP00000377486:L117F	L	+	1	0	MRPL19	75733165	1.000000	0.71417	0.997000	0.53966	0.936000	0.57629	5.397000	0.66302	2.708000	0.92522	0.650000	0.86243	CTT		0.383	MRPL19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252256.1	NM_014763		4	105	0	0	0	1	0	4	105				
PKDREJ	10343	broad.mit.edu	37	22	46658193	46658193	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr22:46658193C>T	ENST00000253255.5	-	1	1026	c.1027G>A	c.(1027-1029)Gat>Aat	p.D343N		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	343	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ATGTTGGCATCGCCAAGCATC	0.572																																						ENST00000253255.5																			0				NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73						c.(1027-1029)Gat>Aat		polycystin (PKD) family receptor for egg jelly							113.0	117.0	116.0					22																	46658193		2203	4300	6503	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46658193C>T	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.1027G>A	22.37:g.46658193C>T	ENSP00000253255:p.Asp343Asn						p.D343N	NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	1026	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	343			REJ.		B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.1027G>A	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	C	6.985	0.551848	0.13374	.	.	ENSG00000130943	ENST00000253255	T	0.69435	-0.4	4.78	-0.379	0.12493	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	2.454170	0.02162	N	0.058877	T	0.43411	0.1246	N	0.03608	-0.345	0.09310	N	1	B	0.15930	0.015	B	0.10450	0.005	T	0.32375	-0.9909	10	0.40728	T	0.16	0.1477	5.9837	0.19421	0.0:0.5331:0.2817:0.1852	.	343	Q9NTG1	PKDRE_HUMAN	N	343	ENSP00000253255:D343N	ENSP00000253255:D343N	D	-	1	0	PKDREJ	45036857	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.010000	0.13242	-0.165000	0.10908	-0.478000	0.04885	GAT		0.572	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		47	169	0	0	0	1	0	47	169				
FBXW7	55294	broad.mit.edu	37	4	153249385	153249385	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr4:153249385G>A	ENST00000281708.4	-	9	2622	c.1393C>T	c.(1393-1395)Cgt>Tgt	p.R465C	FBXW7_ENST00000296555.5_Missense_Mutation_p.R347C|FBXW7_ENST00000263981.5_Missense_Mutation_p.R385C|FBXW7_ENST00000393956.3_Missense_Mutation_p.R289C|FBXW7_ENST00000603841.1_Missense_Mutation_p.R465C|FBXW7_ENST00000603548.1_Missense_Mutation_p.R465C	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	465			R -> C (in a acute lymphoblastic leukemia cell line). {ECO:0000269|PubMed:11565033}.|R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		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.R465C(71)|p.R226C(11)|p.R385C(11)|p.R347C(3)|p.R465Y(2)|p.?(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)				TGCATACAACGCACAGTGGAA	0.413			"""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"""		99	Substitution - Missense(98)|Unknown(1)	p.R465C(71)|p.R226C(11)|p.R385C(11)|p.R347C(3)|p.R465Y(2)|p.?(1)	haematopoietic_and_lymphoid_tissue(41)|large_intestine(27)|endometrium(20)|stomach(6)|biliary_tract(4)|pancreas(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.(1393-1395)Cgt>Tgt		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							260.0	223.0	235.0					4																	153249385		2203	4300	6503	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.chr4:153249385G>A	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.1393C>T	4.37:g.153249385G>A	ENSP00000281708:p.Arg465Cys					FBXW7_ENST00000393956.3_Missense_Mutation_p.R289C|FBXW7_ENST00000263981.5_Missense_Mutation_p.R385C|FBXW7_ENST00000603548.1_Missense_Mutation_p.R465C|FBXW7_ENST00000296555.5_Missense_Mutation_p.R347C|FBXW7_ENST00000603841.1_Missense_Mutation_p.R465C	p.R465C	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			9	2622	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	465		R -> C (in a acute lymphoblastic leukemia cell line).|R -> H (in a colorectal cancer sample; somatic mutation).			B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1393C>T	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.909959	0.92107	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	6.05	6.05	0.98169	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.67287	0.2877	M	0.71206	2.165	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	0.67130	-0.5748	10	0.87932	D	0	-17.2313	20.6013	0.99457	0.0:0.0:1.0:0.0	.	289;465;347;385	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	C	465;347;385;289	ENSP00000281708:R465C;ENSP00000296555:R347C;ENSP00000263981:R385C;ENSP00000377528:R289C	ENSP00000263981:R385C	R	-	1	0	FBXW7	153468835	1.000000	0.71417	0.959000	0.39883	0.996000	0.88848	9.869000	0.99810	2.878000	0.98634	0.650000	0.86243	CGT		0.413	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			32	154	0	0	0	1	0	32	154				
NOTCH2NL	388677	broad.mit.edu	37	1	145273243	145273243	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr1:145273243C>T	ENST00000369340.3	+	4	541	c.97C>T	c.(97-99)Cgc>Tgc	p.R33C	NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.R33C|RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.R33C|NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.R33C			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	33	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						TGAGAAGAACCGCTGCCAGAA	0.532																																						ENST00000369340.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(97-99)Cgc>Tgc		notch 2 N-terminal like							68.0	72.0	71.0					1																	145273243		2202	4278	6480	SO:0001583	missense	388677				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding	g.chr1:145273243C>T		CCDS72880.1	1q21.2	2010-06-24	2010-06-24		ENSG00000213240	ENSG00000213240			31862	protein-coding gene	gene with protein product			"""Notch homolog 2 (Drosophila) N-terminal like"""			14673143	Standard	NM_203458		Approved	N2N	uc001emn.4	Q7Z3S9	OTTHUMG00000013754	ENST00000369340.3:c.97C>T	1.37:g.145273243C>T	ENSP00000358346:p.Arg33Cys					RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.R33C|NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.R33C|NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.R33C	p.R33C			Q7Z3S9	NT2NL_HUMAN			4	541	+			33			EGF-like 2.		Q5BKT8|Q5VTG9|Q5XG84|Q6P192|Q8NC23|Q8WUQ9|Q96FY1	Missense_Mutation	SNP	ENST00000369340.3	37	c.97C>T	CCDS909.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.056948	0.55325	.	.	ENSG00000213240	ENST00000362074;ENST00000344859;ENST00000369340	T;T;T	0.57436	0.4;0.4;0.4	2.75	1.68	0.24146	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.40473	0.1118	L	0.42245	1.32	0.30418	N	0.778406	D;D	0.76494	0.999;0.997	P;P	0.56088	0.791;0.747	T	0.19031	-1.0318	9	0.72032	D	0.01	.	6.6838	0.23134	0.4332:0.5668:0.0:0.0	.	33;33	Q7Z3S9-2;Q7Z3S9	.;NT2NL_HUMAN	C	33	ENSP00000354929:R33C;ENSP00000344557:R33C;ENSP00000358346:R33C	ENSP00000344557:R33C	R	+	1	0	NOTCH2NL	143984600	0.373000	0.25073	1.000000	0.80357	0.984000	0.73092	1.234000	0.32660	1.532000	0.49169	0.394000	0.25966	CGC		0.532	NOTCH2NL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000038546.1	NM_203458		5	224	0	0	0	1	0	5	224				
RYR2	6262	broad.mit.edu	37	1	237893651	237893651	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr1:237893651T>A	ENST00000366574.2	+	77	11247	c.10930T>A	c.(10930-10932)Tta>Ata	p.L3644I	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.L3628I|RYR2_ENST00000360064.6_Missense_Mutation_p.L3642I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3644					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GATAGAAGATTTAGCAGTATG	0.388																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(10930-10932)Tta>Ata		ryanodine receptor 2 (cardiac)							56.0	53.0	54.0					1																	237893651		1840	4098	5938	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237893651T>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.10930T>A	1.37:g.237893651T>A	ENSP00000355533:p.Leu3644Ile					RYR2_ENST00000360064.6_Missense_Mutation_p.L3642I|RYR2_ENST00000542537.1_Missense_Mutation_p.L3628I	p.L3644I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		77	11247	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3644					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.10930T>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	T	16.15	3.043063	0.55003	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.98075	-4.69;-4.7;-4.68	5.52	4.39	0.52855	.	0.140211	0.31415	N	0.007686	D	0.96670	0.8913	M	0.81942	2.565	0.80722	D	1	B;B	0.25743	0.133;0.093	B;B	0.30251	0.077;0.113	D	0.95472	0.8552	10	0.56958	D	0.05	-10.5487	9.2935	0.37802	0.0:0.1378:0.0:0.8622	.	599;3644	B4DGV4;Q92736	.;RYR2_HUMAN	I	3644;3642;3628;599	ENSP00000355533:L3644I;ENSP00000353174:L3642I;ENSP00000443798:L3628I	ENSP00000353174:L3642I	L	+	1	2	RYR2	235960274	0.999000	0.42202	1.000000	0.80357	0.987000	0.75469	1.596000	0.36718	2.225000	0.72522	0.477000	0.44152	TTA		0.388	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		13	27	0	0	0	1	0	13	27				
MAATS1	89876	broad.mit.edu	37	3	119426376	119426376	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr3:119426376G>T	ENST00000273390.5	+	3	404	c.327G>T	c.(325-327)gaG>gaT	p.E109D	MAATS1_ENST00000463700.1_Missense_Mutation_p.E109D	NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	109						mitochondrion (GO:0005739)											GACATAAGGAGAAACACAGAG	0.433																																						ENST00000273390.5																			0											c.(325-327)gaG>gaT		MYCBP-associated, testis expressed 1							55.0	57.0	56.0					3																	119426376		2203	4300	6503	SO:0001583	missense	89876							g.chr3:119426376G>T	AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"""AMY-1-associating protein expressed in testis 1"", ""MYCBP-binding protein"", ""spermatogenesis associated 26"""	609910	"""chromosome 3 open reading frame 15"", ""MYCBP/AMY-1-associated, testis expressed 1"""	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.327G>T	3.37:g.119426376G>T	ENSP00000273390:p.Glu109Asp					MAATS1_ENST00000463700.1_Missense_Mutation_p.E109D	p.E109D	NM_033364.3	NP_203528.2					3	404	+								A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Missense_Mutation	SNP	ENST00000273390.5	37	c.327G>T	CCDS2994.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.317921	0.40996	.	.	ENSG00000183833	ENST00000383667;ENST00000273390;ENST00000463700	T;T	0.48522	1.81;0.81	5.43	0.257	0.15574	.	0.260506	0.37136	N	0.002238	T	0.33904	0.0879	L	0.49350	1.555	0.09310	N	1	B;B;P;P;P	0.43352	0.097;0.004;0.804;0.634;0.804	B;B;B;B;B	0.42386	0.041;0.009;0.248;0.164;0.386	T	0.16689	-1.0394	10	0.24483	T	0.36	-14.3619	1.765	0.03000	0.2416:0.1437:0.4757:0.139	.	109;47;109;109;109	Q7Z4T9;Q7Z4T9-3;Q4G0Y0;Q7Z4T9-7;Q7Z4T9-2	AAT1_HUMAN;.;.;.;.	D	109	ENSP00000273390:E109D;ENSP00000419489:E109D	ENSP00000273390:E109D	E	+	3	2	C3orf15	120909066	0.995000	0.38212	0.000000	0.03702	0.473000	0.32948	1.136000	0.31467	-0.254000	0.09500	0.650000	0.86243	GAG		0.433	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364		4	36	1	0	0.00024832	1	0.000257433	4	36				
ANKZF1	55139	broad.mit.edu	37	2	220100549	220100549	+	Silent	SNP	T	T	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr2:220100549T>A	ENST00000323348.5	+	12	2097	c.1923T>A	c.(1921-1923)cgT>cgA	p.R641R	ANKZF1_ENST00000409849.1_Silent_p.R431R|ANKZF1_ENST00000410034.3_Silent_p.R641R|GLB1L_ENST00000497855.1_5'Flank	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	641						membrane (GO:0016020)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGAGGAGCGTGAACGAGAAG	0.612																																						ENST00000323348.5																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23						c.(1921-1923)cgT>cgA		ankyrin repeat and zinc finger domain containing 1							100.0	116.0	110.0					2																	220100549		2181	4275	6456	SO:0001819	synonymous_variant	55139					intracellular	zinc ion binding	g.chr2:220100549T>A	AF364318	CCDS42821.1, CCDS63129.1	2q35	2013-01-10			ENSG00000163516	ENSG00000163516		"""Zinc fingers, C2H2-type"", ""Ankyrin repeat domain containing"""	25527	protein-coding gene	gene with protein product						12477932	Standard	NM_018089		Approved	FLJ10415, ZNF744	uc002vkg.3	Q9H8Y5	OTTHUMG00000154533	ENST00000323348.5:c.1923T>A	2.37:g.220100549T>A						ANKZF1_ENST00000410034.3_Silent_p.R641R|ANKZF1_ENST00000409849.1_Silent_p.R431R	p.R641R	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	12	2097	+		Renal(207;0.0474)	641					Q9NVZ4	Silent	SNP	ENST00000323348.5	37	c.1923T>A	CCDS42821.1																																																																																				0.612	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335790.1	NM_018089		5	178	0	0	0	1	0	5	178				
CCNB3	85417	broad.mit.edu	37	X	50053263	50053263	+	Silent	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chrX:50053263G>A	ENST00000376042.1	+	6	2392	c.2094G>A	c.(2092-2094)gaG>gaA	p.E698E	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Silent_p.E698E			Q8WWL7	CCNB3_HUMAN	cyclin B3	698					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TCTTGCAAGAGAAGACTGATG	0.448																																						ENST00000376042.1																			0				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(2092-2094)gaG>gaA		cyclin B3							29.0	26.0	27.0					X																	50053263		2203	4300	6503	SO:0001819	synonymous_variant	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50053263G>A	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.2094G>A	X.37:g.50053263G>A						CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Silent_p.E698E	p.E698E			Q8WWL7	CCNB3_HUMAN			6	2392	+	Ovarian(276;0.236)		698					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Silent	SNP	ENST00000376042.1	37	c.2094G>A	CCDS14331.1																																																																																				0.448	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			10	43	0	0	0	1	0	10	43				
GOLGA3	2802	broad.mit.edu	37	12	133373153	133373153	+	Missense_Mutation	SNP	G	G	A	rs200184795		TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr12:133373153G>A	ENST00000450791.2	-	9	2255	c.2072C>T	c.(2071-2073)gCg>gTg	p.A691V	GOLGA3_ENST00000456883.2_Missense_Mutation_p.A691V|GOLGA3_ENST00000537452.1_Missense_Mutation_p.A691V|GOLGA3_ENST00000545875.1_Missense_Mutation_p.A691V|GOLGA3_ENST00000204726.3_Missense_Mutation_p.A691V			Q08378	GOGA3_HUMAN	golgin A3	691	Gln-rich.				intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CAGGGATGCCGCCGAGTCCGC	0.627																																						ENST00000204726.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(2071-2073)gCg>gTg		golgin A3		G	VAL/ALA,VAL/ALA	0,4406		0,0,2203	124.0	121.0	122.0		2072,2072	5.5	0.1	12		122	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	GOLGA3	NM_001172557.1,NM_005895.3	64,64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign,benign	691/1135,691/1499	133373153	2,13004	2203	4300	6503	SO:0001583	missense	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133373153G>A	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.2072C>T	12.37:g.133373153G>A	ENSP00000410378:p.Ala691Val					GOLGA3_ENST00000537452.1_Missense_Mutation_p.A691V|GOLGA3_ENST00000456883.2_Missense_Mutation_p.A691V|GOLGA3_ENST00000545875.1_Missense_Mutation_p.A691V|GOLGA3_ENST00000450791.2_Missense_Mutation_p.A691V	p.A691V	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	10	2630	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	691			Gln-rich.		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	c.2072C>T	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.572455	0.28092	0.0	2.33E-4	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.34859	1.78;1.78;1.78;1.34;1.34	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.31451	0.0797	L	0.40543	1.245	0.80722	D	1	P;P;P	0.42941	0.638;0.487;0.794	B;B;B	0.36959	0.089;0.062;0.237	T	0.05716	-1.0868	10	0.36615	T	0.2	.	17.5281	0.87807	0.0:0.0:1.0:0.0	.	691;691;691	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	V	691	ENSP00000204726:A691V;ENSP00000410378:A691V;ENSP00000409303:A691V;ENSP00000442143:A691V;ENSP00000442603:A691V	ENSP00000204726:A691V	A	-	2	0	GOLGA3	131883226	1.000000	0.71417	0.107000	0.21349	0.012000	0.07955	7.674000	0.83992	2.563000	0.86464	0.655000	0.94253	GCG		0.627	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		30	251	0	0	0	1	0	30	251				
ACOX2	8309	broad.mit.edu	37	3	58494664	58494664	+	Missense_Mutation	SNP	C	C	T	rs199808000		TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr3:58494664C>T	ENST00000302819.5	-	14	2230	c.1939G>A	c.(1939-1941)Gaa>Aaa	p.E647K	ACOX2_ENST00000481527.1_5'UTR|ACOX2_ENST00000459701.2_Missense_Mutation_p.E633K	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	647					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity (GO:0033791)|acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		AACAGGCGTTCGTAGACGTTT	0.433													C|||	1	0.000199681	0.0	0.0	5008	,	,		19472	0.0		0.001	False		,,,				2504	0.0					ENST00000302819.5																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(1939-1941)Gaa>Aaa		acyl-CoA oxidase 2, branched chain		C	LYS/GLU	0,4406		0,0,2203	132.0	116.0	121.0		1939	4.6	1.0	3		121	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ACOX2	NM_003500.3	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	647/682	58494664	1,13005	2203	4300	6503	SO:0001583	missense	8309				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity	g.chr3:58494664C>T	X95190	CCDS33775.1	3p14.3	2012-07-13	2010-04-30		ENSG00000168306	ENSG00000168306	1.17.99.3		120	protein-coding gene	gene with protein product	"""trihydroxycoprostanoyl-CoA oxidase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase"""	601641	"""acyl-Coenzyme A oxidase 2, branched chain"""			8943006, 9070889	Standard	NM_003500		Approved	BRCACOX, BRCOX, THCCox	uc003dkl.3	Q99424	OTTHUMG00000159154	ENST00000302819.5:c.1939G>A	3.37:g.58494664C>T	ENSP00000307697:p.Glu647Lys					ACOX2_ENST00000481527.1_5'UTR|ACOX2_ENST00000459701.2_Missense_Mutation_p.E633K	p.E647K	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)	14	2230	-			647					A6NF16|B2R8U5	Missense_Mutation	SNP	ENST00000302819.5	37	c.1939G>A	CCDS33775.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.175568	0.78564	0.0	1.16E-4	ENSG00000168306	ENST00000459701;ENST00000302819	T;T	0.47869	0.83;0.83	5.43	4.55	0.56014	Acyl-CoA oxidase, C-terminal (1);Acyl-CoA dehydrogenase/oxidase C-terminal (1);	0.561980	0.16908	N	0.194595	T	0.67869	0.2939	M	0.89715	3.055	0.27061	N	0.963551	D	0.56287	0.975	P	0.56612	0.802	T	0.65071	-0.6257	10	0.62326	D	0.03	-10.7473	10.9847	0.47516	0.1267:0.5998:0.2736:0.0	.	647	Q99424	ACOX2_HUMAN	K	633;647	ENSP00000418562:E633K;ENSP00000307697:E647K	ENSP00000307697:E647K	E	-	1	0	ACOX2	58469704	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	1.200000	0.32247	1.296000	0.44742	0.579000	0.79373	GAA		0.433	ACOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353541.1			13	77	0	0	0	1	0	13	77				
VAMP7	6845	broad.mit.edu	37	X	155169401	155169401	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chrX:155169401C>T	ENST00000286448.6	+	7	703	c.538C>T	c.(538-540)Cga>Tga	p.R180*	VAMP7_ENST00000479687.1_3'UTR|VAMP7_ENST00000460621.1_Nonsense_Mutation_p.R139*|VAMP7_ENST00000262640.6_Missense_Mutation_p.S157L	NM_001145149.2|NM_005638.5	NP_001138621.1|NP_005629.1	P51809	VAMP7_HUMAN	vesicle-associated membrane protein 7	180	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				calcium ion-dependent exocytosis (GO:0017156)|endosome to lysosome transport (GO:0008333)|eosinophil degranulation (GO:0043308)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi to plasma membrane protein transport (GO:0043001)|membrane organization (GO:0061024)|neutrophil degranulation (GO:0043312)|phagocytosis, engulfment (GO:0006911)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of protein targeting to vacuolar membrane (GO:1900483)|SNARE complex assembly (GO:0035493)|triglyceride transport (GO:0034197)|vesicle fusion (GO:0006906)|vesicle fusion with Golgi apparatus (GO:0048280)|vesicle-mediated transport (GO:0016192)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|synapse (GO:0045202)		p.R180R(1)|p.S157*(1)		large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AAATCTTGCTCGAGCCATGTG	0.378																																						ENST00000286448.6																			2	Substitution - Nonsense(1)|Substitution - coding silent(1)	p.R180R(1)|p.S157*(1)	lung(2)	large_intestine(1)|lung(8)	9						c.(538-540)Cga>Tga		vesicle-associated membrane protein 7							524.0	534.0	531.0					X																	155169401		2203	4296	6499	SO:0001587	stop_gained	6845				calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane	protein binding	g.chrX:155169401C>T	AJ295938	CCDS14770.4, CCDS48199.1, CCDS55548.1	Xq28 and Yq12	2013-02-13	2007-12-05	2007-12-05	ENSG00000124333	ENSG00000124333		"""Pseudoautosomal regions / PAR2"", ""Vesicle-associated membrane proteins"""	11486	protein-coding gene	gene with protein product		300053	"""synaptobrevin-like 1"""	SYBL1		8640232, 11440841	Standard	NM_001145149		Approved	VAMP-7, TI-VAMP	uc004fns.3	P51809	OTTHUMG00000022679	ENST00000286448.6:c.538C>T	X.37:g.155169401C>T	ENSP00000286448:p.Arg180*					VAMP7_ENST00000479687.1_3'UTR|VAMP7_ENST00000262640.6_Missense_Mutation_p.S157L|VAMP7_ENST00000460621.1_Nonsense_Mutation_p.R139*	p.R180*	NM_001145149.2|NM_005638.5	NP_001138621.1|NP_005629.1	P51809	VAMP7_HUMAN			7	703	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		180			v-SNARE coiled-coil homology.		Q53GY7|Q7Z409|Q9H4A7	Nonsense_Mutation	SNP	ENST00000286448.6	37	c.538C>T	CCDS14770.4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.25|12.25	1.880128|1.880128	0.33162|0.33162	.|.	.|.	ENSG00000124333|ENSG00000124333	ENST00000286448;ENST00000460621|ENST00000262640	.|T	.|0.19669	.|2.13	2.99|2.99	2.0|2.0	0.26442|0.26442	.|.	.|.	.|.	.|.	.|.	.|T	.|0.07413	.|0.0187	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|B	.|0.17268	.|0.021	.|B	.|0.12156	.|0.007	.|T	.|0.35151	.|-0.9800	.|7	0.02654|0.02654	T|T	1|1	.|.	6.4773|6.4773	0.22043|0.22043	0.4451:0.5549:0.0:0.0|0.4451:0.5549:0.0:0.0	.|.	.|157	.|P51809-2	.|.	X|L	180;139|157	.|ENSP00000262640:S157L	ENSP00000286448:R180X|ENSP00000262640:S157L	R|S	+|+	1|2	2|0	VAMP7|VAMP7	154822595|154822595	0.997000|0.997000	0.39634|0.39634	0.996000|0.996000	0.52242|0.52242	0.634000|0.634000	0.38068|0.38068	2.712000|2.712000	0.47186|0.47186	1.514000|1.514000	0.48869|0.48869	0.279000|0.279000	0.19357|0.19357	CGA|TCG		0.378	VAMP7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058843.1	NM_005638		5	215	0	0	0	1	0	5	215				
GPR6	2830	broad.mit.edu	37	6	110301323	110301323	+	Missense_Mutation	SNP	C	C	G	rs538325483		TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr6:110301323C>G	ENST00000275169.3	+	1	1026	c.1008C>G	c.(1006-1008)atC>atG	p.I336M	GPR6_ENST00000414000.2_Missense_Mutation_p.I351M	NM_005284.3	NP_005275.1	P46095	GPR6_HUMAN	G protein-coupled receptor 6	336					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		ACCAGGAGATCCAGCGCGCCC	0.612																																						ENST00000414000.2																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18						c.(1051-1053)atC>atG		G protein-coupled receptor 6							108.0	111.0	110.0					6																	110301323		2203	4300	6503	SO:0001583	missense	2830					integral to plasma membrane		g.chr6:110301323C>G		CCDS5079.1, CCDS69172.1	6q21	2012-08-21				ENSG00000146360		"""GPCR / Class A : Orphans"""	4515	protein-coding gene	gene with protein product		600553				8530049	Standard	NM_001286099		Approved		uc003ptu.3	P46095	OTTHUMG00000015354	ENST00000275169.3:c.1008C>G	6.37:g.110301323C>G	ENSP00000275169:p.Ile336Met					GPR6_ENST00000275169.3_Missense_Mutation_p.I336M	p.I351M			P46095	GPR6_HUMAN		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)	3	1292	+		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)	336					B4DHS9|J3KQR3|Q17RJ7|Q5SYL0	Missense_Mutation	SNP	ENST00000275169.3	37	c.1053C>G	CCDS5079.1	.	.	.	.	.	.	.	.	.	.	C	1.074	-0.668908	0.03403	.	.	ENSG00000146360	ENST00000428489;ENST00000414000;ENST00000275169	T;T	0.38887	1.11;1.11	4.93	3.14	0.36123	.	0.000000	0.85682	D	0.000000	T	0.32704	0.0838	M	0.64404	1.975	0.53688	D	0.999975	D;D	0.71674	0.998;0.996	D;D	0.67900	0.915;0.954	T	0.53865	-0.8378	10	0.02654	T	1	.	8.0944	0.30820	0.1148:0.6801:0.0:0.2051	.	351;336	B4DHS9;P46095	.;GPR6_HUMAN	M	314;351;336	ENSP00000406986:I351M;ENSP00000275169:I336M	ENSP00000275169:I336M	I	+	3	3	GPR6	110408016	0.998000	0.40836	1.000000	0.80357	0.559000	0.35586	0.644000	0.24766	0.287000	0.22375	-0.797000	0.03246	ATC		0.612	GPR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041774.1			36	160	0	0	0	1	0	36	160				
RAD54L2	23132	broad.mit.edu	37	3	51679077	51679077	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr3:51679077C>T	ENST00000409535.2	+	16	2613	c.2488C>T	c.(2488-2490)Cga>Tga	p.R830*	RAD54L2_ENST00000296477.3_Nonsense_Mutation_p.R524*	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	830	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		TGGTGCCAACCGAGTGGTGGT	0.463																																						ENST00000409535.1																			0				NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31						c.(2488-2490)Cga>Tga		RAD54-like 2 (S. cerevisiae)							175.0	154.0	161.0					3																	51679077		2203	4300	6503	SO:0001587	stop_gained	23132					nucleus	ATP binding|DNA binding|helicase activity	g.chr3:51679077C>T	AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.2488C>T	3.37:g.51679077C>T	ENSP00000386520:p.Arg830*					RAD54L2_ENST00000296477.3_Nonsense_Mutation_p.R524*	p.R830*	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)	16	2613	+			830			Helicase C-terminal.		Q8TB57|Q9BV54	Nonsense_Mutation	SNP	ENST00000409535.2	37	c.2488C>T	CCDS33765.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.215763|9.215763	0.99103|0.99103	.|.	.|.	ENSG00000164080|ENSG00000164080	ENST00000432863|ENST00000409535;ENST00000296477	.|.	.|.	.|.	5.61|5.61	4.73|4.73	0.59995|0.59995	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.33876|.	0.0878|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.35076|.	-0.9803|.	3|.	.|0.02654	.|T	.|1	-0.551|-0.551	13.5306|13.5306	0.61619|0.61619	0.2981:0.7019:0.0:0.0|0.2981:0.7019:0.0:0.0	.|.	.|.	.|.	.|.	L|X	658|830;524	.|.	.|ENSP00000296477:R524X	P|R	+|+	2|1	0|2	RAD54L2|RAD54L2	51654117|51654117	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	3.272000|3.272000	0.51616|0.51616	1.367000|1.367000	0.46095|0.46095	-0.152000|-0.152000	0.13540|0.13540	CCG|CGA		0.463	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328700.2	NM_015106		10	69	0	0	0	1	0	10	69				
KLHL32	114792	broad.mit.edu	37	6	97575321	97575321	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr6:97575321G>C	ENST00000369261.4	+	8	1759	c.1396G>C	c.(1396-1398)Gtg>Ctg	p.V466L	KLHL32_ENST00000539200.1_Missense_Mutation_p.V397L|KLHL32_ENST00000536676.1_Missense_Mutation_p.V430L|KLHL32_ENST00000544166.1_Missense_Mutation_p.V22L	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	466										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		CAGGCTAATGGTGTATGAACC	0.323																																						ENST00000369261.4																			0				breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38						c.(1396-1398)Gtg>Ctg		kelch-like family member 32							156.0	162.0	160.0					6																	97575321		2203	4299	6502	SO:0001583	missense	114792							g.chr6:97575321G>C	AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231		"""Kelch-like"", ""BTB/POZ domain containing"""	21221	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 5"", ""KIAA1900"", ""kelch-like 32 (Drosophila)"""	BKLHD5, KIAA1900			Standard	NM_052904		Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.1396G>C	6.37:g.97575321G>C	ENSP00000358265:p.Val466Leu					KLHL32_ENST00000544166.1_Missense_Mutation_p.V22L|KLHL32_ENST00000539200.1_Missense_Mutation_p.V397L|KLHL32_ENST00000536676.1_Missense_Mutation_p.V430L	p.V466L	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0558)	8	1759	+		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)	466					B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Missense_Mutation	SNP	ENST00000369261.4	37	c.1396G>C	CCDS5038.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.656655	0.67586	.	.	ENSG00000186231	ENST00000369261;ENST00000536676;ENST00000544166;ENST00000539200	T;T;T;T	0.79940	-0.32;-0.32;-0.32;-1.32	5.2	5.2	0.72013	Kelch-type beta propeller (1);	0.186366	0.45867	D	0.000331	T	0.77525	0.4143	M	0.86343	2.81	0.80722	D	1	B;B;B;B	0.31705	0.336;0.165;0.067;0.083	B;B;B;B	0.35182	0.197;0.055;0.05;0.038	T	0.77778	-0.2460	10	0.11794	T	0.64	.	18.9316	0.92568	0.0:0.0:1.0:0.0	.	397;430;466;22	B7Z4E2;B7Z346;Q96NJ5;Q8IXH0	.;.;KLH32_HUMAN;.	L	466;430;22;397	ENSP00000358265:V466L;ENSP00000440382:V430L;ENSP00000445453:V22L;ENSP00000441527:V397L	ENSP00000358265:V466L	V	+	1	0	KLHL32	97682042	1.000000	0.71417	0.990000	0.47175	0.969000	0.65631	9.017000	0.93651	2.691000	0.91804	0.655000	0.94253	GTG		0.323	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041570.1	NM_052904		23	97	0	0	0	1	0	23	97				
PRKCG	5582	broad.mit.edu	37	19	54385779	54385779	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr19:54385779T>A	ENST00000263431.3	+	1	313	c.31T>A	c.(31-33)Tca>Aca	p.S11T	PRKCG_ENST00000542049.1_5'Flank|PRKCG_ENST00000536044.1_Missense_Mutation_p.S11T|PRKCG_ENST00000540413.1_Missense_Mutation_p.S11T	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	11					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	CGTAGGCGATTCAGAGGGGGG	0.617																																						ENST00000263431.3																			0				large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10						c.(31-33)Tca>Aca		protein kinase C, gamma							68.0	82.0	77.0					19																	54385779		2202	4300	6502	SO:0001583	missense	5582				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	g.chr19:54385779T>A	M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.31T>A	19.37:g.54385779T>A	ENSP00000263431:p.Ser11Thr					PRKCG_ENST00000536044.1_Missense_Mutation_p.S11T|PRKCG_ENST00000540413.1_Missense_Mutation_p.S11T	p.S11T	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN		GBM - Glioblastoma multiforme(134;0.0521)	1	313	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		11					B7Z8Q0	Missense_Mutation	SNP	ENST00000263431.3	37	c.31T>A	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	T	12.36	1.913194	0.33815	.	.	ENSG00000126583	ENST00000536044;ENST00000540413;ENST00000263431	T;T;T	0.77620	-1.11;-0.45;-0.44	4.08	-0.844	0.10741	.	.	.	.	.	T	0.53158	0.1779	N	0.20401	0.57	0.80722	D	1	B;B;B;B	0.14438	0.001;0.01;0.0;0.001	B;B;B;B	0.09377	0.003;0.004;0.004;0.002	T	0.33574	-0.9863	9	0.21540	T	0.41	.	0.9028	0.01277	0.1583:0.203:0.1623:0.4765	.	11;11;11;11	F5H5C4;B7Z870;B7Z3W6;P05129	.;.;.;KPCG_HUMAN	T	11	ENSP00000440541:S11T;ENSP00000443493:S11T;ENSP00000263431:S11T	ENSP00000263431:S11T	S	+	1	0	PRKCG	59077591	0.874000	0.30092	0.953000	0.39169	0.966000	0.64601	2.156000	0.42310	0.105000	0.17753	-0.669000	0.03829	TCA		0.617	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739		47	188	0	0	0	1	0	47	188				
NXPH1	30010	broad.mit.edu	37	7	8791053	8791053	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr7:8791053C>A	ENST00000405863.1	+	3	1381	c.470C>A	c.(469-471)tCa>tAa	p.S157*	NXPH1_ENST00000497400.1_3'UTR|NXPH1_ENST00000602349.1_Nonsense_Mutation_p.S40*	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	157	III.					extracellular region (GO:0005576)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		AGGCATAATTCAACTGGTCAA	0.398																																						ENST00000405863.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17						c.(469-471)tCa>tAa		neurexophilin 1							85.0	84.0	84.0					7																	8791053		1880	4113	5993	SO:0001587	stop_gained	30010					extracellular region		g.chr7:8791053C>A	AB047362	CCDS47540.1	7p22	2003-03-20			ENSG00000122584	ENSG00000122584			20693	protein-coding gene	gene with protein product		604639				9570794	Standard	NM_152745		Approved		uc003srv.3	P58417	OTTHUMG00000151941	ENST00000405863.1:c.470C>A	7.37:g.8791053C>A	ENSP00000384551:p.Ser157*					NXPH1_ENST00000497400.1_3'UTR|NXPH1_ENST00000602349.1_Nonsense_Mutation_p.S40*	p.S157*	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)	3	1381	+		Ovarian(82;0.0628)	157			III.		Q8NB31	Nonsense_Mutation	SNP	ENST00000405863.1	37	c.470C>A	CCDS47540.1	.	.	.	.	.	.	.	.	.	.	C	42	9.452992	0.99175	.	.	ENSG00000122584	ENST00000405863;ENST00000417186	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.2735	20.6208	0.99490	0.0:1.0:0.0:0.0	.	.	.	.	X	157;40	.	ENSP00000384551:S157X	S	+	2	0	NXPH1	8757578	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	7.792000	0.85828	2.882000	0.98803	0.655000	0.94253	TCA		0.398	NXPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324591.1	NM_152745		15	35	1	0	0.000219431	1	0.00022959	15	35				
PCLO	27445	broad.mit.edu	37	7	82586121	82586121	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr7:82586121G>T	ENST00000333891.9	-	5	4485	c.4148C>A	c.(4147-4149)aCt>aAt	p.T1383N	PCLO_ENST00000423517.2_Missense_Mutation_p.T1383N	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTTTTCATCAGTTGGAATAAG	0.443																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(4147-4149)aCt>aAt		piccolo presynaptic cytomatrix protein							70.0	67.0	68.0					7																	82586121		1852	4091	5943	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82586121G>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.4148C>A	7.37:g.82586121G>T	ENSP00000334319:p.Thr1383Asn					PCLO_ENST00000333891.8_Missense_Mutation_p.T1383N	p.T1383N	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			5	4485	-			1314						Missense_Mutation	SNP	ENST00000333891.9	37	c.4148C>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	9.858	1.195399	0.22037	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.15834	2.39;2.39	5.77	3.95	0.45737	.	.	.	.	.	T	0.08537	0.0212	N	0.03608	-0.345	0.49582	D	0.999805	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.12604	-1.0541	9	0.87932	D	0	.	11.3623	0.49651	0.0:0.6647:0.2688:0.0665	.	1383;1383	Q9Y6V0-5;Q9Y6V0-6	.;.	N	1314;1383;1383	ENSP00000334319:T1383N;ENSP00000388393:T1383N	ENSP00000334319:T1383N	T	-	2	0	PCLO	82424057	0.770000	0.28543	0.995000	0.50966	0.991000	0.79684	1.173000	0.31920	0.748000	0.32831	-0.211000	0.12701	ACT		0.443	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		7	39	1	0	0.00198382	1	0.00203792	7	39				
RPAP3	79657	broad.mit.edu	37	12	48060842	48060842	+	Silent	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr12:48060842G>A	ENST00000005386.3	-	16	1948	c.1833C>T	c.(1831-1833)atC>atT	p.I611I	RPAP3_ENST00000548211.1_5'Flank|RPAP3_ENST00000380650.4_Silent_p.I577I|RPAP3_ENST00000432584.3_Silent_p.I452I	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3	611										endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					AGATTTCAAAGATGAGTAATG	0.284																																						ENST00000005386.3																			0				endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1831-1833)atC>atT		RNA polymerase II associated protein 3							70.0	73.0	72.0					12																	48060842		2201	4280	6481	SO:0001819	synonymous_variant	79657						binding	g.chr12:48060842G>A	AK025561	CCDS8753.1, CCDS53782.1, CCDS53783.1	12q13.11	2013-01-10				ENSG00000005175		"""Tetratricopeptide (TTC) repeat domain containing"""	26151	protein-coding gene	gene with protein product		611477				17643375	Standard	NM_024604		Approved	FLJ21908, spag	uc001rpr.3	Q9H6T3	OTTHUMG00000169668	ENST00000005386.3:c.1833C>T	12.37:g.48060842G>A						RPAP3_ENST00000380650.4_Silent_p.I577I|RPAP3_ENST00000432584.3_Silent_p.I452I	p.I611I	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN			16	1948	-	Lung SC(27;0.192)		611					B4DRW9|Q6PHR5	Silent	SNP	ENST00000005386.3	37	c.1833C>T	CCDS8753.1																																																																																				0.284	RPAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405340.1	NM_024604		3	28	0	0	0	1	0	3	28				
POLG2	11232	broad.mit.edu	37	17	62493003	62493003	+	Silent	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr17:62493003C>T	ENST00000539111.2	-	1	151	c.84G>A	c.(82-84)ggG>ggA	p.G28G		NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	28					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)	extracellular vesicular exosome (GO:0070062)|mitochondrial chromosome (GO:0000262)|mitochondrial nucleoid (GO:0042645)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			GCTCCGGCTGCCCCGCATCTA	0.622																																					Colon(3;18 21 435 17652 48887)	ENST00000539111.2																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15						c.(82-84)ggG>ggA		polymerase (DNA directed), gamma 2, accessory subunit							65.0	66.0	66.0					17																	62493003		2203	4300	6503	SO:0001819	synonymous_variant	11232				DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding	g.chr17:62493003C>T	U94703	CCDS32706.1	17q23.3	2012-05-18			ENSG00000256525	ENSG00000256525		"""DNA polymerases"""	9180	protein-coding gene	gene with protein product		604983				9153213	Standard	NM_007215		Approved	MTPOLB, HP55	uc002jei.3	Q9UHN1		ENST00000539111.2:c.84G>A	17.37:g.62493003C>T							p.G28G	NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;4.97e-11)		1	151	-	Breast(5;2.15e-14)		28					O00419|Q0IJ81|Q96GW2|Q9UK35|Q9UK94	Silent	SNP	ENST00000539111.2	37	c.84G>A	CCDS32706.1																																																																																				0.622	POLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443820.1	NM_007215		22	97	0	0	0	1	0	22	97				
RAE1	8480	broad.mit.edu	37	20	55929772	55929772	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr20:55929772T>C	ENST00000395841.2	+	3	515	c.95T>C	c.(94-96)aTt>aCt	p.I32T	RAE1_ENST00000395840.2_Missense_Mutation_p.I32T|RAE1_ENST00000527947.1_Missense_Mutation_p.I32T|RAE1_ENST00000371242.2_Missense_Mutation_p.I32T	NM_003610.3	NP_003601.1	P78406	RAE1L_HUMAN	ribonucleic acid export 1	32					carbohydrate metabolic process (GO:0005975)|cellular response to organic cyclic compound (GO:0071407)|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)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|nuclear pore (GO:0005643)|nucleolus (GO:0005730)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|RNA binding (GO:0003723)			breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			CCGCAGGATATTGAAGTAACA	0.413																																						ENST00000395841.2																			0				breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21						c.(94-96)aTt>aCt		ribonucleic acid export 1							141.0	118.0	126.0					20																	55929772		2203	4300	6503	SO:0001583	missense	8480				carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore	microtubule binding|RNA binding	g.chr20:55929772T>C	U84720	CCDS13458.1	20q13.31	2013-08-28	2013-08-28		ENSG00000101146	ENSG00000101146		"""WD repeat domain containing"""	9828	protein-coding gene	gene with protein product		603343	"""RAE1 (RNA export 1, S.pombe) homolog"", ""RAE1 RNA export 1 homolog (S. pombe)"""			9370289, 9256445	Standard	XM_005260582		Approved	Mnrp41	uc002xyi.3	P78406	OTTHUMG00000032819	ENST00000395841.2:c.95T>C	20.37:g.55929772T>C	ENSP00000379182:p.Ile32Thr					RAE1_ENST00000527947.1_Missense_Mutation_p.I32T|RAE1_ENST00000371242.2_Missense_Mutation_p.I32T|RAE1_ENST00000395840.2_Missense_Mutation_p.I32T	p.I32T	NM_003610.3	NP_003601.1	P78406	RAE1L_HUMAN	BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)		3	515	+	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		32					A8K882|O15306|Q3SYL7|Q5TCH8|Q6V708|Q9H100|Q9NQM6	Missense_Mutation	SNP	ENST00000395841.2	37	c.95T>C	CCDS13458.1	.	.	.	.	.	.	.	.	.	.	T	18.29	3.590445	0.66219	.	.	ENSG00000101146	ENST00000395841;ENST00000371242;ENST00000527947;ENST00000411894;ENST00000429339;ENST00000395840;ENST00000452119	T;T;T;T;T;T	0.71103	-0.54;-0.54;-0.32;1.47;1.47;-0.54	5.76	5.76	0.90799	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.099993	0.64402	D	0.000001	T	0.75917	0.3915	L	0.45137	1.4	0.58432	D	0.999996	D;P	0.55800	0.973;0.657	P;P	0.59595	0.86;0.491	T	0.74016	-0.3800	10	0.33141	T	0.24	-4.6001	15.0688	0.72017	0.0:0.0:0.0:1.0	.	32;32	E9PQ57;P78406	.;RAE1L_HUMAN	T	32	ENSP00000379182:I32T;ENSP00000360286:I32T;ENSP00000432609:I32T;ENSP00000392097:I32T;ENSP00000393264:I32T;ENSP00000379181:I32T	ENSP00000360286:I32T	I	+	2	0	RAE1	55363179	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	7.595000	0.82710	2.197000	0.70478	0.454000	0.30748	ATT		0.413	RAE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079842.2			10	51	0	0	0	1	0	10	51				
PCDH9	5101	broad.mit.edu	37	13	67802391	67802391	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr13:67802391C>T	ENST00000377865.2	-	1	316	c.182G>A	c.(181-183)aGc>aAc	p.S61N	PCDH9_ENST00000456367.1_Missense_Mutation_p.S61N|PCDH9_ENST00000377861.3_Missense_Mutation_p.S61N|PCDH9_ENST00000328454.5_Missense_Mutation_p.S61N|PCDH9_ENST00000544246.1_Missense_Mutation_p.S61N			Q9HC56	PCDH9_HUMAN	protocadherin 9	61	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GTAGACAAGGCTGGCGCTGGT	0.463																																						ENST00000544246.1																			0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(181-183)aGc>aAc		protocadherin 9							76.0	75.0	76.0					13																	67802391		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67802391C>T	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.182G>A	13.37:g.67802391C>T	ENSP00000367096:p.Ser61Asn					PCDH9_ENST00000328454.5_Missense_Mutation_p.S61N|PCDH9_ENST00000456367.1_Missense_Mutation_p.S61N|PCDH9_ENST00000377865.2_Missense_Mutation_p.S61N|PCDH9_ENST00000377861.3_Missense_Mutation_p.S61N	p.S61N	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	873	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	61			Cadherin 1.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.182G>A	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	C	9.396	1.076886	0.20227	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.15372	2.43;2.43;2.43;2.43;2.43	5.82	5.82	0.92795	Cadherin, N-terminal (1);Cadherin (3);	0.038732	0.85682	D	0.000000	T	0.16171	0.0389	N	0.25485	0.75	0.49130	D	0.999757	B;B;B;B	0.12013	0.005;0.001;0.002;0.005	B;B;B;B	0.15484	0.008;0.005;0.008;0.013	T	0.04320	-1.0960	10	0.36615	T	0.2	.	20.1012	0.97876	0.0:1.0:0.0:0.0	.	61;61;61;61	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	N	61	ENSP00000442186:S61N;ENSP00000367096:S61N;ENSP00000401699:S61N;ENSP00000332060:S61N;ENSP00000367092:S61N	ENSP00000332060:S61N	S	-	2	0	PCDH9	66700392	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.023000	0.70848	2.754000	0.94517	0.650000	0.86243	AGC		0.463	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		5	90	0	0	0	1	0	5	90				
ABCA2	20	broad.mit.edu	37	9	139904002	139904002	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr9:139904002G>A	ENST00000371605.3	-	43	6869	c.6722C>T	c.(6721-6723)aCa>aTa	p.T2241I	ABCA2_ENST00000265662.5_Missense_Mutation_p.T2242I|ABCA2_ENST00000341511.6_Missense_Mutation_p.T2242I			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	2241	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CCTGTGTGATGTCAGCACCAC	0.652																																						ENST00000265662.5																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41						c.(6724-6726)aCa>aTa		ATP-binding cassette, sub-family A (ABC1), member 2							80.0	92.0	88.0					9																	139904002		2149	4278	6427	SO:0001583	missense	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139904002G>A	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.6722C>T	9.37:g.139904002G>A	ENSP00000360666:p.Thr2241Ile					ABCA2_ENST00000341511.6_Missense_Mutation_p.T2242I|ABCA2_ENST00000371605.3_Missense_Mutation_p.T2241I	p.T2242I			Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	44	6872	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	2241			ABC transporter 2.		A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	37	c.6725C>T		.	.	.	.	.	.	.	.	.	.	G	17.02	3.282947	0.59867	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000398210;ENST00000355090;ENST00000341511;ENST00000490486	D;D;D;D	0.99458	-5.93;-5.93;-5.93;-5.93	3.69	3.69	0.42338	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.189287	0.44688	D	0.000432	D	0.99495	0.9820	M	0.84948	2.725	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.991	D	0.98030	1.0376	10	0.87932	D	0	.	15.9552	0.79884	0.0:0.0:1.0:0.0	.	2241;2272	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	I	2242;2241;143;2272;2242;10	ENSP00000265662:T2242I;ENSP00000360666:T2241I;ENSP00000344155:T2242I;ENSP00000420360:T10I	ENSP00000265662:T2242I	T	-	2	0	ABCA2	139023823	1.000000	0.71417	0.948000	0.38648	0.187000	0.23431	9.180000	0.94867	2.067000	0.61834	0.491000	0.48974	ACA		0.652	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		46	55	0	0	0	1	0	46	55				
OR52I1	390037	broad.mit.edu	37	11	4615722	4615722	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr11:4615722G>A	ENST00000530443.2	+	1	454	c.454G>A	c.(454-456)Gtc>Atc	p.V152I	OR52I1_ENST00000450052.2_Missense_Mutation_p.V176I	NM_001005169.1	NP_001005169.1	Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	152						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAGTATGGCCGTCACCATCAG	0.488																																						ENST00000450052.2																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15						c.(526-528)Gtc>Atc		olfactory receptor, family 52, subfamily I, member 1							127.0	113.0	118.0					11																	4615722		2201	4298	6499	SO:0001583	missense	390037				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4615722G>A	BK004371	CCDS59223.1	11p15.4	2012-08-09				ENSG00000232268		"""GPCR / Class A : Olfactory receptors"""	15220	protein-coding gene	gene with protein product							Standard	NM_001005169		Approved		uc010qyi.2	Q8NGK6		ENST00000530443.2:c.454G>A	11.37:g.4615722G>A	ENSP00000436453:p.Val152Ile					OR52I1_ENST00000530443.2_Missense_Mutation_p.V152I	p.V176I			Q8NGK6	O52I1_HUMAN		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	526	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	152					Q6IF91	Missense_Mutation	SNP	ENST00000530443.2	37	c.526G>A	CCDS59223.1	.	.	.	.	.	.	.	.	.	.	A	0.001	-2.920623	0.00055	.	.	ENSG00000232268	ENST00000450052;ENST00000530443	T;T	0.73152	-0.72;-0.72	4.96	3.83	0.44106	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45606	N	0.000347	T	0.34513	0.0900	N	0.00966	-1.09	0.09310	N	1.0	B	0.02656	0.0	B	0.01281	0.0	T	0.32824	-0.9892	9	0.07990	T	0.79	-11.8707	8.0907	0.30799	0.8305:0.0:0.1695:0.0	.	152	Q8NGK6	O52I1_HUMAN	I	176;152	ENSP00000409094:V176I;ENSP00000436453:V152I	ENSP00000409094:V176I	V	+	1	0	OR52I1	4572298	0.000000	0.05858	0.029000	0.17559	0.000000	0.00434	-0.745000	0.04834	0.464000	0.27142	-1.263000	0.01449	GTC		0.488	OR52I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385947.2	NM_001005169		4	96	0	0	0	1	0	4	96				
ATP1A1	476	broad.mit.edu	37	1	116941554	116941554	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr1:116941554C>T	ENST00000295598.5	+	17	2548	c.2296C>T	c.(2296-2298)Cgt>Tgt	p.R766C	ATP1A1_ENST00000369496.4_Missense_Mutation_p.R735C|ATP1A1_ENST00000537345.1_Missense_Mutation_p.R766C	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	766					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	TTTCATAGGTCGTCTGATCTT	0.373																																						ENST00000537345.1																			0				NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(2296-2298)Cgt>Tgt		ATPase, Na+/K+ transporting, alpha 1 polypeptide	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)						104.0	103.0	103.0					1																	116941554		2203	4300	6503	SO:0001583	missense	476				ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity	g.chr1:116941554C>T	D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"""ATPases / P-type"""	799	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-1"", ""sodium pump subunit alpha-1"", ""sodium-potassium ATPase catalytic subunit alpha-1"""	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.2296C>T	1.37:g.116941554C>T	ENSP00000295598:p.Arg766Cys					ATP1A1_ENST00000369496.4_Missense_Mutation_p.R735C|ATP1A1_ENST00000295598.5_Missense_Mutation_p.R766C	p.R766C	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	17	2659	+	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)	766					B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Missense_Mutation	SNP	ENST00000295598.5	37	c.2296C>T	CCDS887.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.784888	0.90282	.	.	ENSG00000163399	ENST00000295598;ENST00000537345;ENST00000369496	D;D;D	0.97620	-4.46;-4.46;-4.46	5.23	4.3	0.51218	ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.99293	0.9753	H	0.99830	4.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97981	1.0349	10	0.87932	D	0	.	14.394	0.66999	0.0:0.9276:0.0:0.0724	.	766;766	F5H3A1;P05023	.;AT1A1_HUMAN	C	766;766;735	ENSP00000295598:R766C;ENSP00000445306:R766C;ENSP00000358508:R735C	ENSP00000295598:R766C	R	+	1	0	ATP1A1	116743077	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.651000	0.83577	2.718000	0.92993	0.655000	0.94253	CGT		0.373	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033481.5	NM_001160233		8	141	0	0	0	1	0	8	141				
GIF	2694	broad.mit.edu	37	11	59609961	59609961	+	Missense_Mutation	SNP	G	G	A	rs374000712		TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr11:59609961G>A	ENST00000257248.2	-	4	513	c.466C>T	c.(466-468)Cgc>Tgc	p.R156C	GIF_ENST00000541311.1_Missense_Mutation_p.R131C	NM_005142.2	NP_005133.2	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	156					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)	cobalamin binding (GO:0031419)			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17					Cyanocobalamin(DB00115)	TTGGCAAAGCGGACGGCTATC	0.577																																					NSCLC(53;1139 1245 16872 38474 42853)	ENST00000541311.1																			0				large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						c.(391-393)Cgc>Tgc		gastric intrinsic factor (vitamin B synthesis)		G	CYS/ARG	0,4402		0,0,2201	116.0	101.0	106.0		466	3.9	0.8	11		106	1,8589	1.2+/-3.3	0,1,4294	no	missense	GIF	NM_005142.2	180	0,1,6495	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	156/418	59609961	1,12991	2201	4295	6496	SO:0001583	missense	2694				cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding	g.chr11:59609961G>A	X76562	CCDS7977.1	11q12.1	2013-09-20			ENSG00000134812	ENSG00000134812			4268	protein-coding gene	gene with protein product		609342				2071148	Standard	NM_005142		Approved	TCN3, IF, IFMH, INF	uc001noi.3	P27352	OTTHUMG00000167399	ENST00000257248.2:c.466C>T	11.37:g.59609961G>A	ENSP00000257248:p.Arg156Cys					GIF_ENST00000257248.2_Missense_Mutation_p.R156C	p.R131C			P27352	IF_HUMAN			4	625	-			156					B2RAN8|B4DVZ1	Missense_Mutation	SNP	ENST00000257248.2	37	c.391C>T	CCDS7977.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.240098	0.58995	0.0	1.16E-4	ENSG00000134812	ENST00000257248;ENST00000541311	T;T	0.38401	1.14;1.14	5.87	3.87	0.44632	.	0.092928	0.45606	D	0.000344	T	0.39911	0.1096	N	0.25647	0.755	0.44175	D	0.996985	D	0.89917	1.0	P	0.61003	0.882	T	0.28106	-1.0054	10	0.59425	D	0.04	-11.1954	9.9171	0.41442	0.0:0.1501:0.6949:0.155	.	156	P27352	IF_HUMAN	C	156;131	ENSP00000257248:R156C;ENSP00000440427:R131C	ENSP00000257248:R156C	R	-	1	0	GIF	59366537	0.023000	0.18921	0.767000	0.31495	0.549000	0.35272	1.225000	0.32551	1.587000	0.49959	0.655000	0.94253	CGC		0.577	GIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394497.1	NM_005142		15	70	0	0	0	1	0	15	70				
FADS2	9415	broad.mit.edu	37	11	61596042	61596042	+	Silent	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr11:61596042C>T	ENST00000278840.4	+	1	810	c.180C>T	c.(178-180)atC>atT	p.I60I	FADS2_ENST00000257261.6_Intron|FADS2_ENST00000521849.1_Silent_p.I60I|FADS2_ENST00000522056.1_Intron	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	60	Cytochrome b5 heme-binding. {ECO:0000255|PROSITE-ProRule:PRU00279}.				alpha-linolenic acid metabolic process (GO:0036109)|linoleic acid metabolic process (GO:0043651)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	AGCGGGTCATCGGGCACTACG	0.632											OREG0021015	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000278840.4																			0				breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						c.(178-180)atC>atT		fatty acid desaturase 2	Alpha-Linolenic Acid(DB00132)						39.0	46.0	43.0					11																	61596042		2202	4299	6501	SO:0001819	synonymous_variant	9415				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding	g.chr11:61596042C>T	AF084559	CCDS8012.1, CCDS60807.1, CCDS60808.1	11q12.2	2013-01-25			ENSG00000134824	ENSG00000134824	1.14.19.3	"""Fatty acid desaturases"""	3575	protein-coding gene	gene with protein product	"""delta-6-desaturase"""	606149		LLCDL2			Standard	NM_004265		Approved	FADSD6, D6D, TU13, DES6, SLL0262	uc001nsl.1	O95864	OTTHUMG00000163794	ENST00000278840.4:c.180C>T	11.37:g.61596042C>T			OREG0021015	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1054	FADS2_ENST00000521849.1_Silent_p.I60I|FADS2_ENST00000257261.6_Intron|FADS2_ENST00000522056.1_Intron	p.I60I	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN			1	810	+			60			Cytochrome b5 heme-binding.		A8K2M6|B7Z634|Q6MZQ7|Q96H07|Q96SV8|Q9H3G3|Q9Y3X4	Silent	SNP	ENST00000278840.4	37	c.180C>T	CCDS8012.1																																																																																				0.632	FADS2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375586.2	NM_004265		12	43	0	0	0	1	0	12	43				
CLMP	79827	broad.mit.edu	37	11	122954517	122954517	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr11:122954517G>C	ENST00000448775.2	-	4	767	c.427C>G	c.(427-429)Ctg>Gtg	p.L143V	CLMP_ENST00000530371.1_5'Flank	NM_024769.2	NP_079045.1	Q9H6B4	CLMP_HUMAN	CXADR-like membrane protein	143	Ig-like C2-type 2.				digestive tract development (GO:0048565)	cell surface (GO:0009986)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						CCTTCTGTCAGCTCTCCTTCC	0.488																																						ENST00000448775.2																			0				endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						c.(427-429)Ctg>Gtg		CXADR-like membrane protein							159.0	116.0	130.0					11																	122954517		2202	4299	6501	SO:0001583	missense	79827					integral to membrane|tight junction		g.chr11:122954517G>C	BC009371	CCDS8441.1	11q24	2013-01-29			ENSG00000166250	ENSG00000166250		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24039	protein-coding gene	gene with protein product	"""adipocyte-specific adhesion molecule"", ""coxsackie- and adenovirus receptor-like membrane protein"", ""adipocyte adhesion molecule"""	611693				12851705, 14573622	Standard	NM_024769		Approved	ASAM, FLJ22415, ACAM	uc001pyt.3	Q9H6B4		ENST00000448775.2:c.427C>G	11.37:g.122954517G>C	ENSP00000405577:p.Leu143Val						p.L143V	NM_024769.2	NP_079045.1	Q9H6B4	CLMP_HUMAN			4	767	-			143			Ig-like C2-type 2.			Missense_Mutation	SNP	ENST00000448775.2	37	c.427C>G	CCDS8441.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.414787	0.42817	.	.	ENSG00000166250	ENST00000448775	T	0.11712	2.75	5.48	3.59	0.41128	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.284446	0.33980	N	0.004368	T	0.07098	0.0180	L	0.28014	0.82	0.32048	N	0.597305	B	0.19583	0.037	B	0.24974	0.057	T	0.19418	-1.0306	10	0.14656	T	0.56	.	7.7778	0.29048	0.1376:0.0:0.6766:0.1858	.	143	Q9H6B4	CLMP_HUMAN	V	143	ENSP00000405577:L143V	ENSP00000405577:L143V	L	-	1	2	CLMP	122459727	0.997000	0.39634	0.995000	0.50966	0.999000	0.98932	1.071000	0.30666	1.317000	0.45149	0.655000	0.94253	CTG		0.488	CLMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387542.1	NM_024769		22	46	0	0	0	1	0	22	46				
KIF26B	55083	broad.mit.edu	37	1	245530218	245530218	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr1:245530218G>A	ENST00000407071.2	+	3	988	c.548G>A	c.(547-549)cGc>cAc	p.R183H	KIF26B_ENST00000479506.1_3'UTR	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	183					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CGGGACAACCGCTGTGACATT	0.582																																						ENST00000407071.2																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(547-549)cGc>cAc		kinesin family member 26B							56.0	58.0	57.0					1																	245530218		2181	4262	6443	SO:0001583	missense	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245530218G>A	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.548G>A	1.37:g.245530218G>A	ENSP00000385545:p.Arg183His					KIF26B_ENST00000479506.1_3'UTR	p.R183H	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		3	988	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		183					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	c.548G>A	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.358325	0.82243	.	.	ENSG00000162849	ENST00000407071	T	0.80909	-1.43	5.44	5.44	0.79542	.	.	.	.	.	T	0.78886	0.4354	L	0.60455	1.87	0.80722	D	1	P	0.50710	0.938	B	0.39094	0.29	T	0.82977	-0.0189	9	0.87932	D	0	.	19.6436	0.95767	0.0:0.0:1.0:0.0	.	183	Q2KJY2	KI26B_HUMAN	H	183	ENSP00000385545:R183H	ENSP00000385545:R183H	R	+	2	0	KIF26B	243596841	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.420000	0.97426	2.712000	0.92718	0.650000	0.86243	CGC		0.582	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		6	36	0	0	0	1	0	6	36				
RGL3	57139	broad.mit.edu	37	19	11526654	11526654	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr19:11526654G>A	ENST00000380456.3	-	5	659	c.596C>T	c.(595-597)gCt>gTt	p.A199V	RGL3_ENST00000393423.3_Missense_Mutation_p.A199V	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	199	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						CTCTCGCTCAGCCTCCTCCAA	0.577																																					GBM(174;751 2067 17998 27979 33959)	ENST00000380456.3																			0				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						c.(595-597)gCt>gTt		ral guanine nucleotide dissociation stimulator-like 3							140.0	151.0	148.0					19																	11526654		2203	4300	6503	SO:0001583	missense	57139				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular		g.chr19:11526654G>A	BC014426	CCDS32910.1, CCDS54221.1	19p13.2	2008-02-05				ENSG00000205517			30282	protein-coding gene	gene with protein product						10869344	Standard	NM_001035223		Approved	FLJ32585	uc002mro.2	Q3MIN7		ENST00000380456.3:c.596C>T	19.37:g.11526654G>A	ENSP00000369823:p.Ala199Val					RGL3_ENST00000393423.3_Missense_Mutation_p.A199V	p.A199V	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN			5	659	-			199			N-terminal Ras-GEF.		B5ME84|B7ZL22|Q0P6G0	Missense_Mutation	SNP	ENST00000380456.3	37	c.596C>T	CCDS32910.1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.555829	0.27827	.	.	ENSG00000205517	ENST00000393423;ENST00000380456	T;T	0.29655	1.56;1.56	4.88	1.33	0.21861	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (1);	1.979570	0.02285	N	0.069753	T	0.25306	0.0615	L	0.48642	1.525	0.22342	N	0.999183	B;P	0.36199	0.129;0.543	B;B	0.25987	0.046;0.065	T	0.20472	-1.0274	10	0.31617	T	0.26	.	7.0093	0.24853	0.0947:0.0:0.5123:0.393	.	199;199	Q3MIN7;B5ME84	RGL3_HUMAN;.	V	199	ENSP00000377075:A199V;ENSP00000369823:A199V	ENSP00000369823:A199V	A	-	2	0	RGL3	11387654	0.004000	0.15560	0.015000	0.15790	0.771000	0.43674	0.380000	0.20602	0.457000	0.26962	0.511000	0.50034	GCT		0.577	RGL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421208.3	XM_290867		67	252	0	0	0	1	0	67	252				
CHSY3	337876	broad.mit.edu	37	5	129520147	129520147	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr5:129520147G>A	ENST00000305031.4	+	3	1670	c.1312G>A	c.(1312-1314)Gaa>Aaa	p.E438K	CHSY3_ENST00000507545.1_3'UTR	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	438					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		CAGTAACACAGAAGTGAGCAA	0.502																																						ENST00000305031.4																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28						c.(1312-1314)Gaa>Aaa		chondroitin sulfate synthase 3							67.0	61.0	63.0					5																	129520147		2203	4300	6503	SO:0001583	missense	337876					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr5:129520147G>A	AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.1312G>A	5.37:g.129520147G>A	ENSP00000302629:p.Glu438Lys					CHSY3_ENST00000507545.1_3'UTR	p.E438K	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)	3	1670	+		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	438					B2RP97|Q76L22|Q86Y52	Missense_Mutation	SNP	ENST00000305031.4	37	c.1312G>A	CCDS34223.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.066430	0.55539	.	.	ENSG00000198108	ENST00000305031	T	0.18960	2.18	4.5	4.5	0.54988	.	0.125201	0.36591	N	0.002507	T	0.18882	0.0453	L	0.43152	1.355	0.51767	D	0.999935	B	0.12013	0.005	B	0.18263	0.021	T	0.02925	-1.1093	9	.	.	.	-2.8798	13.9543	0.64137	0.0772:0.0:0.9228:0.0	.	438	Q70JA7	CHSS3_HUMAN	K	438	ENSP00000302629:E438K	.	E	+	1	0	CHSY3	129548046	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	7.339000	0.79282	2.779000	0.95612	0.650000	0.86243	GAA		0.502	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1	NM_175856		6	72	0	0	0	1	0	6	72				
UBTF	7343	broad.mit.edu	37	17	42290280	42290280	+	Silent	SNP	A	A	G			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr17:42290280A>G	ENST00000302904.4	-	7	1059	c.567T>C	c.(565-567)aaT>aaC	p.N189N	UBTF_ENST00000533177.1_Silent_p.N189N|UBTF_ENST00000529383.1_Silent_p.N189N|UBTF_ENST00000527034.1_Silent_p.N189N|UBTF_ENST00000537550.1_5'Flank|UBTF_ENST00000436088.1_Silent_p.N189N|UBTF_ENST00000343638.5_Silent_p.N189N|UBTF_ENST00000526094.1_Silent_p.N189N|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000393606.3_Silent_p.N189N			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	189					chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		ATTTCTTGGCATTCTGGATTA	0.587																																						ENST00000302904.4																			0				breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(565-567)aaT>aaC		upstream binding transcription factor, RNA polymerase I							159.0	153.0	155.0					17																	42290280		2203	4300	6503	SO:0001819	synonymous_variant	7343				positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding	g.chr17:42290280A>G	BC042297	CCDS11480.1, CCDS42346.1	17q21.31	2014-03-25			ENSG00000108312	ENSG00000108312			12511	protein-coding gene	gene with protein product		600673				9126496	Standard	NM_001076683		Approved	UBF, NOR-90, UBF1, UBF2	uc010czs.3	P17480	OTTHUMG00000167585	ENST00000302904.4:c.567T>C	17.37:g.42290280A>G						UBTF_ENST00000529383.1_Silent_p.N189N|UBTF_ENST00000527034.1_Silent_p.N189N|UBTF_ENST00000436088.1_Silent_p.N189N|UBTF_ENST00000393606.3_Silent_p.N189N|UBTF_ENST00000533177.1_Silent_p.N189N|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000343638.5_Silent_p.N189N|UBTF_ENST00000526094.1_Silent_p.N189N	p.N189N			P17480	UBF1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	7	1059	-		Breast(137;0.00765)|Prostate(33;0.0181)	189					A8K6R8	Silent	SNP	ENST00000302904.4	37	c.567T>C	CCDS11480.1																																																																																				0.587	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395205.1	NM_014233		27	107	0	0	0	1	0	27	107				
DCSTAMP	81501	broad.mit.edu	37	8	105367205	105367205	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr8:105367205G>C	ENST00000297581.2	+	3	1179	c.1130G>C	c.(1129-1131)tGg>tCg	p.W377S	DCSTAMP_ENST00000517991.1_Intron|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	377					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)											TCTGAGACCTGGGTTCCTCTC	0.383																																						ENST00000297581.2																			0											c.(1129-1131)tGg>tCg		dendrocyte expressed seven transmembrane protein							114.0	112.0	112.0					8																	105367205		2203	4300	6503	SO:0001583	missense	81501				osteoclast differentiation	cell surface|integral to membrane|plasma membrane		g.chr8:105367205G>C	AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.1130G>C	8.37:g.105367205G>C	ENSP00000297581:p.Trp377Ser					DCSTAMP_ENST00000517991.1_Intron|DPYS_ENST00000521601.1_Intron	p.W377S	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN			3	1179	+			377					B7ZVW2|E7ESG0|Q2M2D5	Missense_Mutation	SNP	ENST00000297581.2	37	c.1130G>C	CCDS6301.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.228632	0.58777	.	.	ENSG00000164935	ENST00000297581	T	0.28895	1.59	5.44	5.44	0.79542	Dendritic cell-specific transmembrane protein-like (1);	0.194423	0.48286	D	0.000187	T	0.54902	0.1887	M	0.77820	2.39	0.80722	D	1	P	0.52170	0.951	P	0.60012	0.867	T	0.53961	-0.8364	10	0.46703	T	0.11	-10.2488	17.7975	0.88577	0.0:0.0:1.0:0.0	.	377	Q9H295	TM7S4_HUMAN	S	377	ENSP00000297581:W377S	ENSP00000297581:W377S	W	+	2	0	TM7SF4	105436381	1.000000	0.71417	0.999000	0.59377	0.917000	0.54804	5.626000	0.67777	2.700000	0.92200	0.655000	0.94253	TGG		0.383	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788		14	84	0	0	0	1	0	14	84				
POLI	11201	broad.mit.edu	37	18	51818389	51818389	+	Missense_Mutation	SNP	G	G	A	rs201315797		TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr18:51818389G>A	ENST00000579534.1	+	9	1528	c.1385G>A	c.(1384-1386)cGc>cAc	p.R462H	POLI_ENST00000582366.1_3'UTR|POLI_ENST00000217800.5_Missense_Mutation_p.R336H|POLI_ENST00000579434.1_Missense_Mutation_p.R359H|POLI_ENST00000406285.3_Missense_Mutation_p.R383H	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	462					DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)	intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		ACTACTTCACGCTCTGGCAAG	0.353								DNA polymerases (catalytic subunits)																														ENST00000579534.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26						c.(1384-1386)cGc>cAc	DNA polymerases (catalytic subunits)	polymerase (DNA directed) iota		G	HIS/ARG	0,4404		0,0,2202	110.0	112.0	111.0		1385	-8.4	0.0	18		111	3,8597	3.7+/-12.6	0,3,4297	yes	missense	POLI	NM_007195.2	29	0,3,6499	AA,AG,GG		0.0349,0.0,0.0231	benign	462/741	51818389	3,13001	2202	4300	6502	SO:0001583	missense	11201				DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding	g.chr18:51818389G>A		CCDS11954.2	18q21.1	2012-05-18			ENSG00000101751	ENSG00000101751		"""DNA polymerases"""	9182	protein-coding gene	gene with protein product		605252		RAD3OB, RAD30B		17609217	Standard	NM_007195		Approved		uc002lfj.4	Q9UNA4	OTTHUMG00000132704	ENST00000579534.1:c.1385G>A	18.37:g.51818389G>A	ENSP00000462664:p.Arg462His					POLI_ENST00000217800.5_Missense_Mutation_p.R336H|POLI_ENST00000579434.1_Missense_Mutation_p.R359H|POLI_ENST00000406285.3_Missense_Mutation_p.R383H|POLI_ENST00000582366.1_3'UTR	p.R462H	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN		Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)	9	1528	+			462					Q8N590|Q9H0S1|Q9NYH6	Missense_Mutation	SNP	ENST00000579534.1	37	c.1385G>A	CCDS11954.2	.	.	.	.	.	.	.	.	.	.	G	1.201	-0.632557	0.03584	0.0	3.49E-4	ENSG00000101751	ENST00000406285;ENST00000217800	T	0.43688	0.94	5.24	-8.39	0.00969	.	2.019210	0.01805	N	0.033132	T	0.18425	0.0442	N	0.01576	-0.805	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.0;0.001	T	0.30736	-0.9968	10	0.15066	T	0.55	18.5192	18.1731	0.89753	0.7601:0.0:0.2399:0.0	.	382;462	B7Z780;Q9UNA4	.;POLI_HUMAN	H	383;462	ENSP00000385196:R383H	ENSP00000217800:R462H	R	+	2	0	POLI	50072387	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.989000	0.03736	-2.005000	0.00959	-0.843000	0.03049	CGC		0.353	POLI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256002.3	NM_007195		10	79	0	0	0	1	0	10	79				
NAALAD2	10003	broad.mit.edu	37	11	89903252	89903252	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr11:89903252G>A	ENST00000534061.1	+	13	1588	c.1358G>A	c.(1357-1359)aGa>aAa	p.R453K	NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Missense_Mutation_p.R420K	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	453	NAALADase.				neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TATACTCTCAGAGTTGACTGT	0.274																																						ENST00000534061.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59						c.(1357-1359)aGa>aAa		N-acetylated alpha-linked acidic dipeptidase 2							102.0	112.0	109.0					11																	89903252		2200	4288	6488	SO:0001583	missense	10003				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	g.chr11:89903252G>A	AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase III"""	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.1358G>A	11.37:g.89903252G>A	ENSP00000432481:p.Arg453Lys					NAALAD2_ENST00000321955.4_Missense_Mutation_p.R420K|NAALAD2_ENST00000375944.3_Intron	p.R453K	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN			13	1588	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	453			NAALADase.		B3KQR4|Q4KKV4|Q4VAM9	Missense_Mutation	SNP	ENST00000534061.1	37	c.1358G>A	CCDS8288.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.827929	0.90955	.	.	ENSG00000077616	ENST00000534061;ENST00000321955	T;T	0.48201	0.82;0.82	5.82	4.9	0.64082	Peptidase M28 (1);	0.197728	0.43110	D	0.000612	T	0.44286	0.1286	L	0.46567	1.45	0.80722	D	1	B	0.29955	0.263	B	0.32583	0.148	T	0.28170	-1.0052	9	.	.	.	-15.748	16.2276	0.82311	0.0:0.0:0.8659:0.1341	.	453	Q9Y3Q0	NALD2_HUMAN	K	453;420	ENSP00000432481:R453K;ENSP00000320083:R420K	.	R	+	2	0	NAALAD2	89542900	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.121000	0.94375	1.446000	0.47643	0.586000	0.80456	AGA		0.274	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	NM_005467		6	98	0	0	0	1	0	6	98				
MYH7	4625	broad.mit.edu	37	14	23894526	23894526	+	Silent	SNP	G	G	A	rs397516144		TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr14:23894526G>A	ENST00000355349.3	-	21	2550	c.2388C>T	c.(2386-2388)ctC>ctT	p.L796L		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	796	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.		L -> F (in CMH1). {ECO:0000269|PubMed:12974739}.		adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCATTCTGGCGAGCACACCTC	0.592																																						ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(2386-2388)ctC>ctT		myosin, heavy chain 7, cardiac muscle, beta							99.0	82.0	88.0					14																	23894526		2203	4300	6503	SO:0001819	synonymous_variant	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23894526G>A	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.2388C>T	14.37:g.23894526G>A							p.L796L	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	21	2550	-	all_cancers(95;2.54e-05)		796		L -> F (in CMH1).	IQ.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	c.2388C>T	CCDS9601.1																																																																																				0.592	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		9	53	0	0	0	1	0	9	53				
UBA7	7318	broad.mit.edu	37	3	49842263	49842263	+	IGR	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr3:49842263G>A	ENST00000333486.3	-	0	3299				FAM212A_ENST00000333323.4_Missense_Mutation_p.R236Q|MIR5193_ENST00000584510.1_RNA	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7						cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CTTCGGCGCCGGCTGGCCAGG	0.667																																						ENST00000333323.4																			0											c.(706-708)cGg>cAg		family with sequence similarity 212, member A							59.0	69.0	65.0					3																	49842263		2203	4297	6500	SO:0001628	intergenic_variant	389119							g.chr3:49842263G>A	BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"""Ubiquitin-like modifier activating enzymes"""	12471	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)"", ""UBA7, ubiquitin-activating enzyme E1"""	191325	"""ubiquitin-activating enzyme E1-like"""	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267		3.37:g.49842263G>A							p.R236Q	NM_203370.1	NP_976248.1	Q96EL1	CC054_HUMAN			2	840	+			234					Q9BRB2	Missense_Mutation	SNP	ENST00000333486.3	37	c.707G>A	CCDS2805.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.656054	0.47467	.	.	ENSG00000185614	ENST00000333323	.	.	.	5.8	3.9	0.45041	.	0.272597	0.26203	N	0.025735	T	0.33556	0.0867	N	0.19112	0.55	0.37967	D	0.933165	B	0.22346	0.068	B	0.17722	0.019	T	0.15235	-1.0444	9	0.36615	T	0.2	.	7.1961	0.25853	0.3388:0.0:0.6612:0.0	.	234	Q96EL1	CC054_HUMAN	Q	236	.	ENSP00000329735:R236Q	R	+	2	0	C3orf54	49817267	0.948000	0.32251	0.999000	0.59377	0.988000	0.76386	1.217000	0.32455	0.675000	0.31264	0.655000	0.94253	CGG		0.667	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	NM_003335		4	125	0	0	0	1	0	4	125				
WIPF3	644150	broad.mit.edu	37	7	29915498	29915498	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr7:29915498C>T	ENST00000409290.1	+	2	143	c.143C>T	c.(142-144)gCg>gTg	p.A48V	WIPF3_ENST00000242140.5_Missense_Mutation_p.A48V|WIPF3_ENST00000409123.1_Missense_Mutation_p.A48V	NM_001080529.2	NP_001073998.2	A6NGB9	WIPF3_HUMAN	WAS/WASL interacting protein family, member 3	48	WH2. {ECO:0000255|PROSITE- ProRule:PRU00406}.				cell differentiation (GO:0030154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)		p.A48V(1)		breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						GGCCGGAGTGCGCTGTTGGCT	0.542																																						ENST00000409290.1																			1	Substitution - Missense(1)	p.A48V(1)	ovary(1)	breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						c.(142-144)gCg>gTg		WAS/WASL interacting protein family, member 3							60.0	68.0	65.0					7																	29915498		2114	4245	6359	SO:0001583	missense	644150							g.chr7:29915498C>T	AK094250	CCDS56472.1	7p15.1	2006-10-12			ENSG00000122574	ENSG00000122574			22004	protein-coding gene	gene with protein product		612432					Standard	NM_001080529		Approved	CR16, FLJ36931	uc022aaz.1	A6NGB9	OTTHUMG00000152761	ENST00000409290.1:c.143C>T	7.37:g.29915498C>T	ENSP00000386878:p.Ala48Val					WIPF3_ENST00000409123.1_Missense_Mutation_p.A48V|WIPF3_ENST00000242140.5_Missense_Mutation_p.A48V	p.A48V	NM_001080529.2	NP_001073998.2	B8ZZV2	B8ZZV2_HUMAN			2	143	+			48					B8ZZV2	Missense_Mutation	SNP	ENST00000409290.1	37	c.143C>T	CCDS56472.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.347472	0.61183	.	.	ENSG00000122574	ENST00000409123;ENST00000409290;ENST00000242140	T;T;T	0.63255	-0.03;-0.03;-0.03	5.22	4.34	0.51931	Actin-binding WH2 (3);	0.081640	0.46442	N	0.000297	T	0.65365	0.2684	M	0.93462	3.42	0.36305	D	0.857304	P	0.41214	0.742	B	0.31191	0.125	T	0.77048	-0.2732	10	0.87932	D	0	.	9.7304	0.40357	0.0:0.9045:0.0:0.0955	.	48	A6NGB9	WIPF3_HUMAN	V	48	ENSP00000386790:A48V;ENSP00000386878:A48V;ENSP00000242140:A48V	ENSP00000242140:A48V	A	+	2	0	WIPF3	29882023	1.000000	0.71417	0.943000	0.38184	0.783000	0.44284	5.772000	0.68889	1.196000	0.43129	0.643000	0.83706	GCG		0.542	WIPF3-002	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327705.1			16	59	0	0	0	1	0	16	59				
ANKRD27	84079	broad.mit.edu	37	19	33113417	33113417	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr19:33113417C>T	ENST00000306065.4	-	18	1896	c.1738G>A	c.(1738-1740)Gtc>Atc	p.V580I		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	580					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.V580I(1)		breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					GTCTCTATGACGCCTTGGTAG	0.537																																						ENST00000306065.4																			1	Substitution - Missense(1)	p.V580I(1)	endometrium(1)	breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42						c.(1738-1740)Gtc>Atc		ankyrin repeat domain 27 (VPS9 domain)							195.0	177.0	183.0					19																	33113417		2203	4300	6503	SO:0001583	missense	84079				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr19:33113417C>T	AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"""Ankyrin repeat domain containing"""	25310	protein-coding gene	gene with protein product	"""Vps9 domain and ankyrin-repeat-containing protein"""					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.1738G>A	19.37:g.33113417C>T	ENSP00000304292:p.Val580Ile						p.V580I	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN			18	1896	-	Esophageal squamous(110;0.137)		580					Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Missense_Mutation	SNP	ENST00000306065.4	37	c.1738G>A	CCDS32986.1	.	.	.	.	.	.	.	.	.	.	C	2.782	-0.253297	0.05829	.	.	ENSG00000105186	ENST00000306065	T	0.67523	-0.27	5.31	3.18	0.36537	Ankyrin repeat-containing domain (3);	0.340540	0.25151	N	0.032743	T	0.33876	0.0878	N	0.01631	-0.79	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37361	-0.9709	10	0.02654	T	1	-16.3757	13.4784	0.61322	0.0:0.0687:0.0:0.9313	.	580	Q96NW4	ANR27_HUMAN	I	580	ENSP00000304292:V580I	ENSP00000304292:V580I	V	-	1	0	ANKRD27	37805257	1.000000	0.71417	0.995000	0.50966	0.654000	0.38779	3.840000	0.55843	0.405000	0.25532	-1.119000	0.02030	GTC		0.537	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139		34	127	0	0	0	1	0	34	127				
ASB5	140458	broad.mit.edu	37	4	177146431	177146431	+	Silent	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr4:177146431C>T	ENST00000296525.3	-	2	371	c.258G>A	c.(256-258)ctG>ctA	p.L86L	ASB5_ENST00000511879.1_5'UTR|ASB5_ENST00000512254.1_Silent_p.L33L	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	86					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		ATAATGTTCTCAGAGCAAGAA	0.353																																						ENST00000296525.3																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34						c.(256-258)ctG>ctA		ankyrin repeat and SOCS box containing 5							86.0	92.0	90.0					4																	177146431		2203	4300	6503	SO:0001819	synonymous_variant	140458				intracellular signal transduction			g.chr4:177146431C>T	AY057053	CCDS3827.1	4q34.1	2013-01-10	2011-01-25		ENSG00000164122	ENSG00000164122		"""Ankyrin repeat domain containing"""	17180	protein-coding gene	gene with protein product		615050	"""ankyrin repeat and SOCS box-containing 5"""				Standard	NM_080874		Approved		uc003iuq.2	Q8WWX0	OTTHUMG00000160793	ENST00000296525.3:c.258G>A	4.37:g.177146431C>T						ASB5_ENST00000512254.1_Silent_p.L33L|ASB5_ENST00000511879.1_5'UTR	p.L86L	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)	2	371	-		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	86					Q8N7B5	Silent	SNP	ENST00000296525.3	37	c.258G>A	CCDS3827.1																																																																																				0.353	ASB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362344.1			13	70	0	0	0	1	0	13	70				
BTN3A3	10384	broad.mit.edu	37	6	26445952	26445952	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr6:26445952A>T	ENST00000244519.2	+	5	697	c.454A>T	c.(454-456)Att>Ttt	p.I152F	BTN3A3_ENST00000361232.3_Missense_Mutation_p.I110F|BTN3A3_ENST00000339789.4_Missense_Mutation_p.I110F	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	152	Ig-like V-type 2.				T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						TGATCTTCACATTGAAGTGAA	0.493																																						ENST00000244519.2																			0				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						c.(454-456)Att>Ttt		butyrophilin, subfamily 3, member A3							95.0	86.0	89.0					6																	26445952		2203	4300	6503	SO:0001583	missense	10384					integral to membrane		g.chr6:26445952A>T	U90548	CCDS4611.1, CCDS4612.1, CCDS4612.2	6p22.1	2014-01-14			ENSG00000111801	ENSG00000111801		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1140	protein-coding gene	gene with protein product		613595				10354554, 9149941	Standard	NM_006994		Approved	BTF3, BTN3.3	uc003nhz.3	O00478	OTTHUMG00000014451	ENST00000244519.2:c.454A>T	6.37:g.26445952A>T	ENSP00000244519:p.Ile152Phe					BTN3A3_ENST00000339789.4_Missense_Mutation_p.I110F|BTN3A3_ENST00000361232.3_Missense_Mutation_p.I110F	p.I152F	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN			5	697	+			152			Ig-like V-type 2.		B4DWI7|E9PCP5	Missense_Mutation	SNP	ENST00000244519.2	37	c.454A>T	CCDS4611.1	.	.	.	.	.	.	.	.	.	.	A	12.71	2.020554	0.35606	.	.	ENSG00000111801	ENST00000244519;ENST00000339789;ENST00000471353;ENST00000361232;ENST00000496719;ENST00000487272	T;T;T;T;T;T	0.42900	1.02;0.96;3.27;0.97;3.75;4.18	3.1	-6.2	0.02072	Immunoglobulin-like fold (1);	.	.	.	.	T	0.21718	0.0523	M	0.81942	2.565	0.09310	N	1	P;P	0.50272	0.933;0.933	P;P	0.44860	0.462;0.462	T	0.07158	-1.0787	9	0.66056	D	0.02	.	2.4878	0.04602	0.2443:0.1578:0.4426:0.1553	.	110;152	E9PCP5;O00478	.;BT3A3_HUMAN	F	152;110;110;110;152;110	ENSP00000244519:I152F;ENSP00000344968:I110F;ENSP00000417717:I110F;ENSP00000355238:I110F;ENSP00000420147:I152F;ENSP00000419445:I110F	ENSP00000244519:I152F	I	+	1	0	BTN3A3	26553931	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.606000	0.05654	-1.367000	0.02152	-3.632000	0.00027	ATT		0.493	BTN3A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040116.2	NM_006994		10	59	0	0	0	1	0	10	59				
FLG	2312	broad.mit.edu	37	1	152276245	152276245	+	Missense_Mutation	SNP	C	C	T	rs376468916		TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr1:152276245C>T	ENST00000368799.1	-	3	11152	c.11117G>A	c.(11116-11118)cGt>cAt	p.R3706H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3706	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGACCCTGAACGTCCAGACCT	0.607									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(11116-11118)cGt>cAt		filaggrin		C	HIS/ARG	0,4406		0,0,2203	117.0	123.0	121.0		11117	-5.4	0.0	1		121	1,8593	1.2+/-3.3	0,1,4296	no	missense	FLG	NM_002016.1	29	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	3706/4062	152276245	1,12999	2203	4297	6500	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152276245C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.11117G>A	1.37:g.152276245C>T	ENSP00000357789:p.Arg3706His					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.R3706H	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	11152	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3706			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.11117G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	6.194	0.404012	0.11754	0.0	1.16E-4	ENSG00000143631	ENST00000368799	T	0.01323	5.01	3.11	-5.4	0.02656	.	.	.	.	.	T	0.00328	0.0010	L	0.41079	1.255	0.09310	N	1	P	0.35456	0.502	B	0.18871	0.023	T	0.47182	-0.9137	9	0.18276	T	0.48	.	4.9502	0.14009	0.0:0.2582:0.4732:0.2686	.	3706	P20930	FILA_HUMAN	H	3706	ENSP00000357789:R3706H	ENSP00000357789:R3706H	R	-	2	0	FLG	150542869	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.789000	0.04609	-0.803000	0.04415	-0.498000	0.04607	CGT		0.607	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		101	226	0	0	0	1	0	101	226				
KIAA0556	23247	broad.mit.edu	37	16	27772898	27772898	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr16:27772898C>T	ENST00000261588.4	+	19	3815	c.3796C>T	c.(3796-3798)Cgg>Tgg	p.R1266W		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1266						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TGACGACTCCCGGGCCCTGGA	0.542																																						ENST00000261588.4																			0				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						c.(3796-3798)Cgg>Tgg		KIAA0556							45.0	47.0	46.0					16																	27772898		2197	4300	6497	SO:0001583	missense	23247							g.chr16:27772898C>T	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.3796C>T	16.37:g.27772898C>T	ENSP00000261588:p.Arg1266Trp						p.R1266W	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN			19	3815	+			1266					A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	c.3796C>T	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557184	0.65425	.	.	ENSG00000047578	ENST00000261588	T	0.18810	2.19	4.56	3.53	0.40419	.	0.055208	0.64402	D	0.000002	T	0.51227	0.1662	M	0.91561	3.22	0.47308	D	0.999385	D	0.89917	1.0	D	0.79108	0.992	T	0.60900	-0.7171	10	0.62326	D	0.03	-28.0247	11.3435	0.49546	0.318:0.682:0.0:0.0	.	1266	O60303	K0556_HUMAN	W	1266	ENSP00000261588:R1266W	ENSP00000261588:R1266W	R	+	1	2	KIAA0556	27680399	0.997000	0.39634	1.000000	0.80357	0.932000	0.56968	2.245000	0.43133	2.086000	0.62901	0.561000	0.74099	CGG		0.542	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		5	46	0	0	0	1	0	5	46				
MIDN	90007	broad.mit.edu	37	19	1255048	1255048	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr19:1255048G>A	ENST00000591446.2	+	5	1253	c.844G>A	c.(844-846)Ggg>Agg	p.G282R	MIDN_ENST00000300952.2_Missense_Mutation_p.G282R			Q504T8	MIDN_HUMAN	midnolin	282						cytosol (GO:0005829)|nucleolus (GO:0005730)				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		GGTCTTCTCAGGGACCTTCTC	0.627																																						ENST00000300952.2																			0				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(844-846)Ggg>Agg		midnolin							65.0	67.0	66.0					19																	1255048		2203	4299	6502	SO:0001583	missense	90007					nucleolus		g.chr19:1255048G>A	AC004221	CCDS32864.1	19p13.3	2013-09-20			ENSG00000167470	ENSG00000167470			16298	protein-coding gene	gene with protein product		606700				10974535	Standard	XM_005259671		Approved		uc002lrp.3	Q504T8	OTTHUMG00000180144	ENST00000591446.2:c.844G>A	19.37:g.1255048G>A	ENSP00000467679:p.Gly282Arg					MIDN_ENST00000591446.2_Missense_Mutation_p.G282R	p.G282R	NM_177401.4	NP_796375.3	Q504T8	MIDN_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)	6	1359	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	282					Q96BW8	Missense_Mutation	SNP	ENST00000591446.2	37	c.844G>A	CCDS32864.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204366	0.79127	.	.	ENSG00000167470	ENST00000300952	.	.	.	3.62	2.58	0.30949	.	0.000000	0.85682	D	0.000000	T	0.67915	0.2944	L	0.54323	1.7	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	T	0.68303	-0.5444	9	0.87932	D	0	-20.3202	9.7313	0.40363	0.1061:0.0:0.8939:0.0	.	282	Q504T8	MIDN_HUMAN	R	282	.	ENSP00000300952:G282R	G	+	1	0	MIDN	1206048	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.715000	0.91416	0.731000	0.32448	0.561000	0.74099	GGG		0.627	MIDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449965.2			15	63	0	0	0	1	0	15	63				
RYR1	6261	broad.mit.edu	37	19	39025965	39025965	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr19:39025965G>C	ENST00000359596.3	+	81	11449	c.11449G>C	c.(11449-11451)Gat>Cat	p.D3817H	AC067969.2_ENST00000595853.1_RNA|RYR1_ENST00000360985.3_Missense_Mutation_p.D3817H|RYR1_ENST00000355481.4_Missense_Mutation_p.D3812H			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3817					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GAAAATGCTGGATTATCTTAA	0.507																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(11434-11436)Gat>Cat		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						130.0	112.0	118.0					19																	39025965		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39025965G>C	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.11449G>C	19.37:g.39025965G>C	ENSP00000352608:p.Asp3817His					RYR1_ENST00000359596.3_Missense_Mutation_p.D3817H|RYR1_ENST00000360985.3_Missense_Mutation_p.D3817H	p.D3812H	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		80	11565	+	all_cancers(60;7.91e-06)		3817					Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.11434G>C	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.325811	0.41197	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.88818	-2.43;-2.43;-2.43	4.15	4.15	0.48705	.	0.147580	0.41294	U	0.000919	D	0.93167	0.7824	M	0.69823	2.125	0.58432	D	0.999991	D;D;D	0.76494	0.997;0.999;0.998	D;D;P	0.66351	0.919;0.943;0.879	D	0.93986	0.7262	10	0.72032	D	0.01	.	15.7074	0.77594	0.0:0.0:1.0:0.0	.	3817;3812;3817	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	H	3817;3812;3817	ENSP00000352608:D3817H;ENSP00000347667:D3812H;ENSP00000354254:D3817H	ENSP00000347667:D3812H	D	+	1	0	RYR1	43717805	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.283000	0.95860	2.317000	0.78254	0.555000	0.69702	GAT		0.507	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			5	99	0	0	0	1	0	5	99				
KIT	3815	broad.mit.edu	37	4	55598102	55598102	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr4:55598102G>A	ENST00000288135.5	+	16	2396	c.2299G>A	c.(2299-2301)Gaa>Aaa	p.E767K		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	767	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCTAGACTTAGAAGACTTGCT	0.453		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													ENST00000288135.5		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	"""Mis, O"""	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"""L, M, O, E"""		"""GIST, epithelioma"""	"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""		0				NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411						c.(2299-2301)Gaa>Aaa		v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						120.0	100.0	106.0					4																	55598102		2203	4299	6502	SO:0001583	missense	3815	Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55598102G>A	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2299G>A	4.37:g.55598102G>A	ENSP00000288135:p.Glu767Lys						p.E767K	NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	16	2396	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		767			Protein kinase.		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	c.2299G>A	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.377301	0.61735	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.82433	-1.61;-1.61	5.96	5.96	0.96718	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.088956	0.48286	D	0.000198	T	0.77219	0.4098	N	0.12637	0.245	0.58432	D	0.999999	P;P	0.44816	0.82;0.844	B;P	0.46479	0.434;0.518	T	0.75354	-0.3347	10	0.27082	T	0.32	.	20.422	0.99049	0.0:0.0:1.0:0.0	.	763;767	P10721-2;P10721	.;KIT_HUMAN	K	767;763	ENSP00000288135:E767K;ENSP00000390987:E763K	ENSP00000288135:E767K	E	+	1	0	KIT	55292859	1.000000	0.71417	0.995000	0.50966	0.200000	0.23975	7.910000	0.87451	2.832000	0.97577	0.655000	0.94253	GAA		0.453	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			20	84	0	0	0	1	0	20	84				
KCNH6	81033	broad.mit.edu	37	17	61613164	61613164	+	Silent	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr17:61613164G>A	ENST00000583023.1	+	6	1247	c.1236G>A	c.(1234-1236)gcG>gcA	p.A412A	KCNH6_ENST00000456941.2_Silent_p.A412A|KCNH6_ENST00000314672.5_Silent_p.A412A|KCNH6_ENST00000580652.1_Silent_p.A412A|KCNH6_ENST00000581784.1_Silent_p.A412A	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	412					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	CGCTCATAGCGCACTGGCTGG	0.627																																						ENST00000583023.1																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(1234-1236)gcG>gcA		potassium voltage-gated channel, subfamily H (eag-related), member 6	Ibutilide(DB00308)						92.0	81.0	85.0					17																	61613164		2203	4300	6503	SO:0001819	synonymous_variant	81033				regulation of transcription, DNA-dependent|signal transduction			g.chr17:61613164G>A	AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.1236G>A	17.37:g.61613164G>A						KCNH6_ENST00000314672.5_Silent_p.A412A|KCNH6_ENST00000580652.1_Silent_p.A412A|KCNH6_ENST00000581784.1_Silent_p.A412A|KCNH6_ENST00000456941.2_Silent_p.A412A	p.A412A	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN			6	1247	+			412					Q9BRD7	Silent	SNP	ENST00000583023.1	37	c.1236G>A	CCDS11638.1																																																																																				0.627	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	NM_030779		4	123	0	0	0	1	0	4	123				
HECTD3	79654	broad.mit.edu	37	1	45473174	45473174	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr1:45473174G>T	ENST00000372172.4	-	10	1485	c.1414C>A	c.(1414-1416)Cca>Aca	p.P472T	HECTD3_ENST00000486132.1_5'Flank|HECTD3_ENST00000372168.3_Missense_Mutation_p.P82T	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	472					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					TATAGGCGTGGCATGAAGCTG	0.607																																						ENST00000372172.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28						c.(1414-1416)Cca>Aca		HECT domain containing E3 ubiquitin protein ligase 3							86.0	90.0	89.0					1																	45473174		2138	4236	6374	SO:0001583	missense	79654				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity	g.chr1:45473174G>T	BC019105	CCDS41318.1	1p34.1	2012-02-23	2012-02-23		ENSG00000126107	ENSG00000126107			26117	protein-coding gene	gene with protein product			"""HECT domain containing 3"""			12477932	Standard	NM_024602		Approved	FLJ21156	uc009vxk.3	Q5T447	OTTHUMG00000008587	ENST00000372172.4:c.1414C>A	1.37:g.45473174G>T	ENSP00000361245:p.Pro472Thr					HECTD3_ENST00000372168.3_Missense_Mutation_p.P82T	p.P472T	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN			10	1485	-	Acute lymphoblastic leukemia(166;0.155)		472					B3KPV7|B3KRH4|Q5T448|Q9H783	Missense_Mutation	SNP	ENST00000372172.4	37	c.1414C>A	CCDS41318.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.017499	0.93404	.	.	ENSG00000126107	ENST00000372172;ENST00000372168	T;T	0.61510	0.1;0.51	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.74779	0.3761	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.994;1.0	T	0.75733	-0.3214	10	0.59425	D	0.04	.	18.889	0.92391	0.0:0.0:1.0:0.0	.	472;82	Q5T447;Q5T447-2	HECD3_HUMAN;.	T	472;82	ENSP00000361245:P472T;ENSP00000361241:P82T	ENSP00000361241:P82T	P	-	1	0	HECTD3	45245761	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.073000	0.93992	2.686000	0.91538	0.655000	0.94253	CCA		0.607	HECTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023734.1	NM_024602		5	115	1	0	0.00116845	1	0.00120579	5	115				
COL4A6	1288	broad.mit.edu	37	X	107403883	107403883	+	Splice_Site	SNP	T	T	G			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chrX:107403883T>G	ENST00000372216.4	-	43	4438	c.4338A>C	c.(4336-4338)ggA>ggC	p.G1446G	COL4A6_ENST00000394872.2_Splice_Site_p.G1446G|COL4A6_ENST00000334504.7_Splice_Site_p.G1445G|COL4A6_ENST00000538570.1_Splice_Site_p.G1388G|COL4A6_ENST00000545689.1_Splice_Site_p.G1421G|COL4A6_ENST00000418180.1_5'Flank	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1446	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GCCCTGGAGCTCCTGAGAGAG	0.522									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	ENST00000394872.2																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						c.e43-1		collagen, type IV, alpha 6							56.0	51.0	53.0					X																	107403883		2203	4300	6503	SO:0001630	splice_region_variant	1288	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107403883T>G	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.4337-1A>C	X.37:g.107403883T>G						COL4A6_ENST00000545689.1_Splice_Site_p.G1421_splice|COL4A6_ENST00000372216.4_Splice_Site_p.G1446_splice|COL4A6_ENST00000538570.1_Splice_Site_p.G1388_splice|COL4A6_ENST00000334504.7_Splice_Site_p.G1445_splice	p.G1446_splice			Q14031	CO4A6_HUMAN			43	4569	-			1446			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Splice_Site	SNP	ENST00000372216.4	37	c.4336_splice	CCDS14541.1																																																																																				0.522	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2		Silent	16	68	0	0	0	1	0	16	68				
DCAF4L2	138009	broad.mit.edu	37	8	88885685	88885685	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr8:88885685C>T	ENST00000319675.3	-	1	611	c.515G>A	c.(514-516)cGt>cAt	p.R172H		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	172										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GCCAGGCCGACGCATTCCTGG	0.567																																						ENST00000319675.3																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						c.(514-516)cGt>cAt		DDB1 and CUL4 associated factor 4-like 2							118.0	109.0	112.0					8																	88885685		2203	4300	6503	SO:0001583	missense	138009							g.chr8:88885685C>T	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.515G>A	8.37:g.88885685C>T	ENSP00000316496:p.Arg172His						p.R172H	NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN			1	611	-			172						Missense_Mutation	SNP	ENST00000319675.3	37	c.515G>A	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	C	7.428	0.638052	0.14386	.	.	ENSG00000176566	ENST00000319675	T	0.61627	0.09	1.39	-2.79	0.05841	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.470541	0.25657	N	0.029168	T	0.25938	0.0632	N	0.08118	0	0.09310	N	1	B	0.20988	0.05	B	0.09377	0.004	T	0.04767	-1.0928	10	0.56958	D	0.05	.	1.6008	0.02674	0.2924:0.2523:0.0:0.4552	.	172	Q8NA75	DC4L2_HUMAN	H	172	ENSP00000316496:R172H	ENSP00000316496:R172H	R	-	2	0	DCAF4L2	88954801	0.983000	0.35010	0.000000	0.03702	0.001000	0.01503	0.363000	0.20301	-1.064000	0.03172	-0.518000	0.04402	CGT		0.567	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		20	152	0	0	0	1	0	20	152				
LPHN1	22859	broad.mit.edu	37	19	14263627	14263627	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr19:14263627C>T	ENST00000340736.6	-	20	3704	c.3407G>A	c.(3406-3408)cGa>cAa	p.R1136Q	CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.R1131Q|CTB-55O6.12_ENST00000588658.1_RNA|CTB-55O6.12_ENST00000592086.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1136					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						GGTGTTGCTTCGCATGGCTGA	0.627																																						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.(3406-3408)cGa>cAa		latrophilin 1							162.0	136.0	145.0					19																	14263627		2203	4300	6503	SO:0001583	missense	22859				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr19:14263627C>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.3407G>A	19.37:g.14263627C>T	ENSP00000340688:p.Arg1136Gln					CTB-55O6.12_ENST00000588658.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.R1131Q	p.R1136Q	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN			20	3704	-			1136					Q96IE7|Q9BU07|Q9HAR3	Missense_Mutation	SNP	ENST00000340736.6	37	c.3407G>A	CCDS32928.1	.	.	.	.	.	.	.	.	.	.	C	34	5.357079	0.95854	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	T;T	0.71934	-0.61;-0.61	5.26	5.26	0.73747	GPCR, family 2, latrophilin, C-terminal (1);	0.000000	0.64402	D	0.000002	T	0.81351	0.4804	L	0.55213	1.73	0.49915	D	0.999831	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.82886	-0.0235	10	0.72032	D	0.01	.	16.355	0.83232	0.0:1.0:0.0:0.0	.	1131;1136	O94910-2;O94910	.;LPHN1_HUMAN	Q	1136;1131	ENSP00000340688:R1136Q;ENSP00000355328:R1131Q	ENSP00000340688:R1136Q	R	-	2	0	LPHN1	14124627	0.999000	0.42202	0.991000	0.47740	0.842000	0.47809	6.008000	0.70739	2.460000	0.83146	0.561000	0.74099	CGA		0.627	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		19	112	0	0	0	1	0	19	112				
C1orf56	54964	broad.mit.edu	37	1	151021108	151021110	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr1:151021108_151021110delGCC	ENST00000368926.5	+	1	893_895	c.785_787delGCC	c.(784-789)tgcccc>tcc	p.262_263CP>S	C1orf56_ENST00000465135.1_3'UTR	NM_017860.3	NP_060330.2	Q9BUN1	MENT_HUMAN	chromosome 1 open reading frame 56	262						cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CGGGAAGAGTGCCCCCTGGACAC	0.601											OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(146;891 3320 6873)	ENST00000368926.5																			0				endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						c.(784-789)tcc>t		chromosome 1 open reading frame 56																																				SO:0001651	inframe_deletion	54964					extracellular region		g.chr1:151021108_151021110delGCC	BC002469	CCDS980.1	1q21.2	2013-09-20			ENSG00000143443	ENSG00000143443			26045	protein-coding gene	gene with protein product	"""methylated in normal thymocytes"""					12975309, 22133874	Standard	NM_017860		Approved	FLJ20519, MENT	uc001ewn.3	Q9BUN1	OTTHUMG00000035159	ENST00000368926.5:c.785_787delGCC	1.37:g.151021108_151021110delGCC	ENSP00000357922:p.Cys262_Pro263delinsSer		OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1737	C1orf56_ENST00000465135.1_3'UTR	p.CP262del	NM_017860.3	NP_060330.2	Q9BUN1	CA056_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		1	893_895	+	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		262					B2RDU8|Q9NWZ4	In_Frame_Del	DEL	ENST00000368926.5	37	c.785_787delGCC	CCDS980.1																																																																																				0.601	C1orf56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085101.1	NM_017860		84	137						84	137	---	---	---	---
ATP6V1B1	525	broad.mit.edu	37	2	71191572	71191573	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr2:71191572_71191573insC	ENST00000234396.4	+	12	1221_1222	c.1148_1149insC	c.(1147-1152)taccccfs	p.YP383fs	ATP6V1B1_ENST00000412314.1_Frame_Shift_Ins_p.YP366fs|RN7SL160P_ENST00000468558.2_RNA|AC007040.11_ENST00000606025.1_Intron	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	383					ATP hydrolysis coupled proton transport (GO:0015991)|ATP metabolic process (GO:0046034)|calcium ion homeostasis (GO:0055074)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|pH reduction (GO:0045851)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						CCTCAGATCTACCCCCCCATCA	0.545											OREG0014686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000234396.4																			0				endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						c.(1147-1149)tccfs		ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1																																				SO:0001589	frameshift_variant	525				ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr2:71191572_71191573insC	AF107466	CCDS1912.1	2p13	2010-04-21	2008-07-31	2002-05-10	ENSG00000116039	ENSG00000116039	3.6.3.14	"""ATPases / V-type"""	853	protein-coding gene	gene with protein product	"""Renal tubular acidosis with deafness"""	192132	"""vacuolar proton pump 3"""	VPP3, ATP6B1		9916796, 2527371	Standard	XM_005264368		Approved	VATB, RTA1B, Vma2	uc002shj.3	P15313	OTTHUMG00000129711	ENST00000234396.4:c.1155dupC	2.37:g.71191579_71191579dupC	ENSP00000234396:p.Tyr383fs		OREG0014686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1128	AC007040.11_ENST00000606025.1_Intron|ATP6V1B1_ENST00000412314.1_Frame_Shift_Ins_p.S366fs	p.S383fs	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN			12	1221_1222	+			383					Q53FY0|Q6P4H6	Frame_Shift_Ins	INS	ENST00000234396.4	37	c.1148_1149insC	CCDS1912.1																																																																																				0.545	ATP6V1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251920.2	NM_001692		28	62						28	62	---	---	---	---
MYLK	4638	broad.mit.edu	37	3	123368043	123368044	+	Splice_Site	INS	-	-	G	rs41431347|rs200371896	byFrequency	TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr3:123368043_123368044insG	ENST00000475616.1	-	22	4288		c.e22-2		MYLK_ENST00000360304.3_Splice_Site|MYLK_ENST00000346322.5_Splice_Site|MYLK_ENST00000354792.5_Splice_Site|MYLK_ENST00000360772.3_Splice_Site|MYLK_ENST00000359169.1_Splice_Site			Q15746	MYLK_HUMAN	myosin light chain kinase						actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCTTCGGCTCTGGGGGGGGCAC	0.624													?|GGGGGGGG|GGGGGGGGG|unsure	129	0.0257588	0.034	0.0303	5008	,	,		18148	0.0089		0.0348	False		,,,				2504	0.0194					ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.e26-2		myosin light chain kinase																																				SO:0001630	splice_region_variant	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123368043_123368044insG	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.4289-2->C	3.37:g.123368051_123368051dupG						MYLK_ENST00000475616.1_Splice_Site|MYLK_ENST00000359169.1_Splice_Site|MYLK_ENST00000360304.3_Splice_Site|MYLK_ENST00000354792.5_Splice_Site|MYLK_ENST00000346322.5_Splice_Site				Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	26	4667	-		Lung NSC(201;0.0496)						B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Splice_Site	INS	ENST00000475616.1	37		CCDS46896.1																																																																																				0.624	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025	Intron	16	86						16	86	---	---	---	---
NOA1	84273	broad.mit.edu	37	4	57840083	57840085	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr4:57840083_57840085delTCT	ENST00000264230.4	-	2	2485_2487	c.1248_1250delAGA	c.(1246-1251)gaagat>gat	p.E416del		NM_032313.2	NP_115689.1	Q8NC60	NOA1_HUMAN	nitric oxide associated 1	416	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				apoptotic process (GO:0006915)|GTP catabolic process (GO:0006184)|mitochondrial translation (GO:0032543)|regulation of cell death (GO:0010941)|regulation of cellular respiration (GO:0043457)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)										CTCACTAAGATCTTCTTCAGCTT	0.374																																						ENST00000264230.4																			0											c.(1246-1251)gat>ga		nitric oxide associated 1																																				SO:0001651	inframe_deletion	84273						GTP binding	g.chr4:57840083_57840085delTCT	AK098215	CCDS3510.1	4q12	2013-05-24	2011-10-19	2011-10-19	ENSG00000084092	ENSG00000084092			28473	protein-coding gene	gene with protein product	"""nitric oxide synthase, mitochondrial (putative)"", ""mitochondrial GTPase 3 homolog (S. cerevisiae)"""	614919	"""chromosome 4 open reading frame 14"""	C4orf14		16380119, 2118999, 21771794, 22447445	Standard	NM_032313		Approved	MGC3232, hAtNOS1, hNOA1, MTG3	uc003hck.3	Q8NC60	OTTHUMG00000128773	ENST00000264230.4:c.1248_1250delAGA	4.37:g.57840086_57840088delTCT	ENSP00000264230:p.Glu416del						p.ED416del	NM_032313.2	NP_115689.1	Q8NC60	CD014_HUMAN			2	2485_2487	-			416					Q8N7L6|Q9BSQ9	In_Frame_Del	DEL	ENST00000264230.4	37	c.1248_1250delAGA	CCDS3510.1																																																																																				0.374	NOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250694.2	NM_032313		20	84						20	84	---	---	---	---
MBLAC2	153364	broad.mit.edu	37	5	89757342	89757342	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr5:89757342delT	ENST00000316610.6	-	2	957	c.482delA	c.(481-483)cagfs	p.Q161fs		NM_203406.1	NP_981951	Q68D91	MBLC2_HUMAN	metallo-beta-lactamase domain containing 2	161						extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			kidney(1)|liver(1)|lung(3)	5						AACAGTGAGCTGTCTGTCACC	0.428																																						ENST00000316610.6																			0				kidney(1)|liver(1)|lung(3)	5						c.(481-483)cgfs		metallo-beta-lactamase domain containing 2							86.0	76.0	79.0					5																	89757342		2203	4300	6503	SO:0001589	frameshift_variant	153364						hydrolase activity|metal ion binding	g.chr5:89757342delT	BC038230	CCDS4067.1	5q14.3	2009-04-08	2009-04-08		ENSG00000176055	ENSG00000176055			33711	protein-coding gene	gene with protein product							Standard	NM_203406		Approved	DKFZp686P15118, MGC46734	uc003kjp.3	Q68D91	OTTHUMG00000131327	ENST00000316610.6:c.482delA	5.37:g.89757342delT	ENSP00000314776:p.Gln161fs						p.Q161fs	NM_203406.1	NP_981951.1	Q68D91	MBLC2_HUMAN			2	957	-			161					D6RJI1|Q8IY16|Q8N8D8	Frame_Shift_Del	DEL	ENST00000316610.6	37	c.482delA	CCDS4067.1																																																																																				0.428	MBLAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254098.2	NM_203406		8	41						8	41	---	---	---	---
MCHR2	84539	broad.mit.edu	37	6	100382358	100382358	+	Frame_Shift_Del	DEL	A	A	-	rs200957067		TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr6:100382358delA	ENST00000281806.2	-	5	937	c.623delT	c.(622-624)ttcfs	p.F208fs	MCHR2_ENST00000369212.2_Frame_Shift_Del_p.F208fs	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	208						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.F208fs*5(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		GGGTAGAGGGAAAAAAAAAGT	0.343																																						ENST00000281806.2																			1	Deletion - Frameshift(1)	p.F208fs*5(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39						c.(622-624)tcfs		melanin-concentrating hormone receptor 2			,	6,4258		0,6,2126	84.0	84.0	84.0		,	2.9	1.0	6		86	2,8246		0,2,4122	no	frameshift,frameshift	MCHR2	NM_032503.2,NM_001040179.1	,	0,8,6248	A1A1,A1R,RR		0.0242,0.1407,0.0639	,	,	100382358	8,12504	2203	4297	6500	SO:0001589	frameshift_variant	84539					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:100382358delA	AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"""GPCR / Class A : MCH receptors"""	20867	protein-coding gene	gene with protein product		606111	"""G protein-coupled receptor 145"""	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.623delT	6.37:g.100382358delA	ENSP00000281806:p.Phe208fs					MCHR2_ENST00000369212.1_Frame_Shift_Del_p.F208fs|MCHR2_ENST00000445970.1_Frame_Shift_Del_p.F208fs	p.F208fs	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0429)	5	937	-		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)	208					B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Frame_Shift_Del	DEL	ENST00000281806.2	37	c.623delT	CCDS5044.1																																																																																				0.343	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041620.2	NM_032503		15	71						15	71	---	---	---	---
RP11-405A12.2	0	broad.mit.edu	37	12	20096042	20096042	+	lincRNA	DEL	A	A	-			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr12:20096042delA	ENST00000535764.1	+	0	212																											ACAAGCTGTTAAAAAAAAAAT	0.303																																						ENST00000535764.1																			0																																																			0							g.chr12:20096042delA																													12.37:g.20096042delA														0	212	+									RNA	DEL	ENST00000535764.1	37																																																																																						0.303	RP11-405A12.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000401672.1			3	5						3	5	---	---	---	---
ALDH1A2	8854	broad.mit.edu	37	15	58254352	58254354	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr15:58254352_58254354delTTG	ENST00000249750.4	-	10	1874_1876	c.1107_1109delCAA	c.(1105-1110)aacaag>aag	p.N369del	ALDH1A2_ENST00000558231.1_In_Frame_Del_p.N340del|ALDH1A2_ENST00000347587.3_In_Frame_Del_p.N331del|ALDH1A2_ENST00000559517.1_In_Frame_Del_p.N273del|ALDH1A2_ENST00000537372.1_In_Frame_Del_p.N348del	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	369					9-cis-retinoic acid biosynthetic process (GO:0042904)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|cardiac muscle tissue development (GO:0048738)|cellular response to retinoic acid (GO:0071300)|determination of bilateral symmetry (GO:0009855)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract development (GO:0048566)|embryonic forelimb morphogenesis (GO:0035115)|face development (GO:0060324)|heart morphogenesis (GO:0003007)|hindbrain development (GO:0030902)|kidney development (GO:0001822)|liver development (GO:0001889)|lung development (GO:0030324)|midgut development (GO:0007494)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|neural crest cell development (GO:0014032)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|proximal/distal pattern formation (GO:0009954)|regulation of endothelial cell proliferation (GO:0001936)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to vitamin A (GO:0033189)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)|retinoic acid receptor signaling pathway (GO:0048384)|retinol metabolic process (GO:0042572)|ureter maturation (GO:0035799)|vitamin A metabolic process (GO:0006776)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|retinal binding (GO:0016918)|retinal dehydrogenase activity (GO:0001758)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	Tretinoin(DB00755)|Vitamin A(DB00162)	TTCCAAGATCTTGTTGTACTGTT	0.433																																						ENST00000249750.4																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(1105-1110)aag>aa		aldehyde dehydrogenase 1 family, member A2	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)																																			SO:0001651	inframe_deletion	8854				negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity	g.chr15:58254352_58254354delTTG	AB015228	CCDS10163.1, CCDS10164.1, CCDS45266.1, CCDS55968.1	15q21.2	2011-02-18			ENSG00000128918	ENSG00000128918		"""Aldehyde dehydrogenases"""	15472	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 2"""	603687				9819382	Standard	NM_003888		Approved	RALDH2	uc002aex.3	O94788	OTTHUMG00000132624	ENST00000249750.4:c.1107_1109delCAA	15.37:g.58254355_58254357delTTG	ENSP00000249750:p.Asn369del					ALDH1A2_ENST00000537372.1_In_Frame_Del_p.NK348del|ALDH1A2_ENST00000347587.3_In_Frame_Del_p.NK331del|ALDH1A2_ENST00000558231.1_In_Frame_Del_p.NK340del|ALDH1A2_ENST00000559517.1_In_Frame_Del_p.NK273del	p.NK369del	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN		GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	10	1874_1876	-			369					B3KY52|B4DZR2|F5H2Y9|H0YM00|Q2PJS6|Q8NHQ4|Q9UBR8|Q9UFY0	In_Frame_Del	DEL	ENST00000249750.4	37	c.1107_1109delCAA	CCDS10163.1																																																																																				0.433	ALDH1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255869.1			14	95						14	95	---	---	---	---
CTCF	10664	broad.mit.edu	37	16	67663416	67663438	+	Splice_Site	DEL	AAGAAGATTCCTCTGACAGTGGT	AAGAAGATTCCTCTGACAGTGGT	-			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr16:67663416_67663438delAAGAAGATTCCTCTGACAGTGGT	ENST00000264010.4	+	10	2261_2281	c.1817_1837delAAGAAGATTCCTCTGACAGTGGT	c.(1816-1839)aaagaagattcctctgacagtggt>agt	p.KEDSSDSG606fs	CTCF_ENST00000401394.1_Splice_Site_p.KEDSSDSG278fs	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	606					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.?(1)		breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		CGCTCTAAGAAAGAAGATTCCTCTGACAGTGGTAAGTGACTTG	0.457																																					Colon(175;1200 1966 6945 23069 27405)	ENST00000264010.4																			1	Unknown(1)	p.?(1)	endometrium(1)	breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79						c.e10+1		CCCTC-binding factor (zinc finger protein)																																				SO:0001630	splice_region_variant	10664				chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:67663416_67663438delAAGAAGATTCCTCTGACAGTGGT	U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"""Zinc fingers, C2H2-type"""	13723	protein-coding gene	gene with protein product	"""11 zinc finger transcriptional repressor"""	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.1837+1AAGAAGATTCCTCTGACAGTGGT>-	16.37:g.67663416_67663438delAAGAAGATTCCTCTGACAGTGGT						CTCF_ENST00000401394.1_Splice_Site_p.S278_splice	p.S606_splice	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)	10	2261_2281	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	606					B5MC38|Q53XI7|Q59EL8	Splice_Site	DEL	ENST00000264010.4	37	c.1837_splice	CCDS10841.1																																																																																				0.457	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2	NM_006565	Frame_Shift_Del	8	103						8	103	---	---	---	---
EVI2A	2123	broad.mit.edu	37	17	29645635	29645637	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr17:29645635_29645637delTGT	ENST00000462804.2	-	2	794_796	c.395_397delACA	c.(394-399)aacatg>atg	p.N132del	NF1_ENST00000358273.4_Intron|EVI2A_ENST00000461237.1_In_Frame_Del_p.N132del|NF1_ENST00000581113.2_Intron|EVI2A_ENST00000247270.3_In_Frame_Del_p.N155del|CTD-2370N5.3_ENST00000578584.1_In_Frame_Del_p.Q71del|NF1_ENST00000356175.3_Intron	NM_014210.3	NP_055025.2	P22794	EVI2A_HUMAN	ecotropic viral integration site 2A	132					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)	p.0?(8)|p.?(3)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)		AGCATAGCCATGTTGTTGTTGTT	0.365																																						ENST00000247270.3																			11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(463-468)atg>a		ecotropic viral integration site 2A																																				SO:0001651	inframe_deletion	2123					integral to membrane	transmembrane receptor activity	g.chr17:29645635_29645637delTGT	M55267	CCDS32608.1, CCDS42293.1	17q11.2	2008-07-18			ENSG00000126860	ENSG00000126860			3499	protein-coding gene	gene with protein product		158380		EVI2		2117566	Standard	NM_014210		Approved	EVDA	uc002hgm.3	P22794	OTTHUMG00000159306	ENST00000462804.2:c.395_397delACA	17.37:g.29645644_29645646delTGT	ENSP00000420557:p.Asn132del					EVI2A_ENST00000461237.1_In_Frame_Del_p.NM132del|NF1_ENST00000356175.3_Intron|EVI2A_ENST00000462804.2_In_Frame_Del_p.NM132del|NF1_ENST00000358273.4_Intron|NF1_ENST00000581113.2_Intron|CTD-2370N5.3_ENST00000578584.1_In_Frame_Del_p.QH71del	p.NM155del	NM_001003927.2	NP_001003927.1	P22794	EVI2A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)	3	800_802	-		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)	132					B2R5X2|B4DHX8	In_Frame_Del	DEL	ENST00000462804.2	37	c.464_466delACA	CCDS42293.1																																																																																				0.365	EVI2A-001	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354491.3	NM_014210		18	96						18	96	---	---	---	---
PTPN2	5771	broad.mit.edu	37	18	12825830	12825845	+	Frame_Shift_Del	DEL	TAGATGTACTGTATAA	TAGATGTACTGTATAA	-			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr18:12825830_12825845delTAGATGTACTGTATAA	ENST00000309660.5	-	5	552_567	c.459_474delTTATACAGTACATCTA	c.(457-474)tattatacagtacatctafs	p.YYTVHL153fs	PTPN2_ENST00000327283.3_Frame_Shift_Del_p.YYTVHL153fs|PTPN2_ENST00000591115.1_Frame_Shift_Del_p.YYTVHL153fs|PTPN2_ENST00000591497.1_Frame_Shift_Del_p.YYTVHL124fs|PTPN2_ENST00000353319.4_Frame_Shift_Del_p.YYTVHL153fs	NM_002828.3	NP_002819.2	P17706	PTN2_HUMAN	protein tyrosine phosphatase, non-receptor type 2	153	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				B cell differentiation (GO:0030183)|cytokine-mediated signaling pathway (GO:0019221)|erythrocyte differentiation (GO:0030218)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemotaxis (GO:0050922)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of interleukin-2-mediated signaling pathway (GO:1902206)|negative regulation of interleukin-4-mediated signaling pathway (GO:1902215)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage colony-stimulating factor signaling pathway (GO:1902227)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of positive thymic T cell selection (GO:1902233)|negative regulation of prolactin signaling pathway (GO:1902212)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|negative regulation of tyrosine phosphorylation of Stat1 protein (GO:0042512)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|negative regulation of tyrosine phosphorylation of Stat6 protein (GO:0042527)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of gluconeogenesis (GO:0045722)|regulation of hepatocyte growth factor receptor signaling pathway (GO:1902202)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|syntaxin binding (GO:0019905)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13		Lung NSC(161;8.94e-06)				CTAATTGTAGTAGATGTACTGTATAATACGACTTCA	0.333																																						ENST00000309660.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13						c.(457-474)tafs		protein tyrosine phosphatase, non-receptor type 2																																				SO:0001589	frameshift_variant	5771				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway	endoplasmic reticulum|nucleoplasm	protein binding	g.chr18:12825830_12825845delTAGATGTACTGTATAA	M25393	CCDS11863.1, CCDS11864.1, CCDS11865.1, CCDS59306.1	18p11.3-p11.2	2011-06-09			ENSG00000175354	ENSG00000175354		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9650	protein-coding gene	gene with protein product		176887		PTPT		2164224	Standard	NM_002828		Approved	TCELLPTP, TC-PTP, TCPTP	uc002krp.3	P17706	OTTHUMG00000131702	ENST00000309660.5:c.459_474delTTATACAGTACATCTA	18.37:g.12825830_12825845delTAGATGTACTGTATAA	ENSP00000311857:p.Tyr153fs					PTPN2_ENST00000591497.1_Frame_Shift_Del_p.YYTVHL124fs|PTPN2_ENST00000591115.1_Frame_Shift_Del_p.YYTVHL153fs|PTPN2_ENST00000353319.4_Frame_Shift_Del_p.YYTVHL153fs|PTPN2_ENST00000327283.3_Frame_Shift_Del_p.YYTVHL153fs	p.YYTVHL153fs	NM_002828.3	NP_002819.2	P17706	PTN2_HUMAN			5	552_567	-		Lung NSC(161;8.94e-06)	153			Tyrosine-protein phosphatase.		A8K955|A8MXU3|K7ENG3|Q96AU5|Q96HR2	Frame_Shift_Del	DEL	ENST00000309660.5	37	c.459_474delTTATACAGTACATCTA	CCDS11865.1																																																																																				0.333	PTPN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254613.3	NM_002828, NM_080422, NM_080423		7	68						7	68	---	---	---	---
ZNF492	57615	broad.mit.edu	37	19	22846645	22846646	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr19:22846645_22846646insA	ENST00000456783.2	+	4	418_419	c.174_175insA	c.(175-177)aaafs	p.K59fs	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	59					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(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				CAAAGCAGGGCAAAAAAAATTA	0.302																																						ENST00000456783.2																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(172-177)ggaaaafs		zinc finger protein 492																																				SO:0001589	frameshift_variant	57615				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22846645_22846646insA	AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"""Zinc fingers, C2H2-type"""	23707	protein-coding gene	gene with protein product			"""zinc finger protein 115 (Y20)"""	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.182dupA	19.37:g.22846653_22846653dupA	ENSP00000413660:p.Lys59fs						p.GK58fs	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN			4	418_419	+		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)	58					Q08EI7|Q08EI8	Frame_Shift_Ins	INS	ENST00000456783.2	37	c.174_175insA	CCDS46032.1																																																																																				0.302	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	NM_020855		7	10						7	10	---	---	---	---
KMT2B	9757	broad.mit.edu	37	19	36211899	36211899	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr19:36211899delC	ENST00000222270.7	+	3	1650	c.1650delC	c.(1648-1650)gacfs	p.D550fs	KMT2B_ENST00000420124.1_Frame_Shift_Del_p.D550fs|KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000341701.1_Intron	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	550	Pro-rich.				chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										TGGATGAAGACCCCCCCAAAC	0.592																																						ENST00000222270.7																			0											c.(1648-1650)gafs									34.0	39.0	37.0					19																	36211899		1935	4130	6065	SO:0001589	frameshift_variant	9757							g.chr19:36211899delC	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.1650delC	19.37:g.36211899delC	ENSP00000222270:p.Asp550fs					KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000341701.1_Intron|WBP7_ENST00000420124.1_Frame_Shift_Del_p.D550fs	p.D550fs	NM_014727.1	NP_055542.1					3	1650	+								O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Frame_Shift_Del	DEL	ENST00000222270.7	37	c.1650delC	CCDS46055.1																																																																																				0.592	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		9	26						9	26	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11047461	11047462	+	RNA	INS	-	-	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr21:11047461_11047462insA	ENST00000470054.1	-	0	774							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACAGAGGATTTAAAAAAGTAAA	0.312																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11047461_11047462insA	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11047467_11047467dupA												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	774	-								A8K925|Q08ER0	RNA	INS	ENST00000470054.1	37																																																																																						0.312	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		7	224						7	224	---	---	---	---
APOO	79135	broad.mit.edu	37	X	23898999	23898999	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chrX:23898999delT	ENST00000379226.4	-	2	311	c.80delA	c.(79-81)aagfs	p.K27fs	APOO_ENST00000379220.3_Frame_Shift_Del_p.K27fs	NM_024122.4	NP_077027.1	Q9BUR5	APOO_HUMAN	apolipoprotein O	27					lipid transport (GO:0006869)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|mitochondrion (GO:0005739)|very-low-density lipoprotein particle (GO:0034361)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1)	9						AGGTGAGTCCTTTTTTGGTGC	0.428																																						ENST00000379226.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1)	9						c.(79-81)agfs		apolipoprotein O							81.0	70.0	74.0					X																	23898999		2203	4300	6503	SO:0001589	frameshift_variant	79135				lipid transport	high-density lipoprotein particle|integral to membrane|low-density lipoprotein particle|very-low-density lipoprotein particle		g.chrX:23898999delT	BC016814	CCDS14208.1	Xp22.11	2013-01-24	2007-01-17	2007-01-17	ENSG00000184831	ENSG00000184831		"""Apolipoproteins"""	28727	protein-coding gene	gene with protein product		300753	"""family with sequence similarity 121B"""	FAM121B		12975309, 16956892	Standard	NR_026545		Approved	MGC4825, My025	uc004dax.3	Q9BUR5	OTTHUMG00000021259	ENST00000379226.4:c.80delA	X.37:g.23898999delT	ENSP00000368528:p.Lys27fs					APOO_ENST00000379220.3_Frame_Shift_Del_p.K27fs	p.K27fs	NM_024122.4	NP_077027.1	Q9BUR5	APOO_HUMAN			2	311	-			27					B2R4K9|Q9H3J9	Frame_Shift_Del	DEL	ENST00000379226.4	37	c.80delA	CCDS14208.1																																																																																				0.428	APOO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056074.1	NM_024122		13	60						13	60	---	---	---	---
