#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
CACNA1C	775	broad.mit.edu	37	12	2719737	2719737	+	Missense_Mutation	SNP	C	C	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr12:2719737C>T	ENST00000347598.4	+	29	3649	c.3649C>T	c.(3649-3651)Cgg>Tgg	p.R1217W	CACNA1C_ENST00000399595.1_Missense_Mutation_p.R1197W|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R1197W|CACNA1C_ENST00000480911.1_Missense_Mutation_p.R1197W|CACNA1C_ENST00000399637.1_Missense_Mutation_p.R1197W|CACNA1C_ENST00000399606.1_Missense_Mutation_p.R1217W|CACNA1C_ENST00000327702.7_Missense_Mutation_p.R1197W|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R1197W|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R1197W|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R1197W|CACNA1C_ENST00000399603.1_Missense_Mutation_p.R1197W|CACNA1C_ENST00000399649.1_Missense_Mutation_p.R1197W|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R1197W|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R1197W|CACNA1C_ENST00000399641.1_Missense_Mutation_p.R1197W|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R1197W|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R1197W|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R1197W|CACNA1C_ENST00000402845.3_Missense_Mutation_p.R1197W|CACNA1C_ENST00000344100.3_Missense_Mutation_p.R1197W|CACNA1C_ENST00000335762.5_Missense_Mutation_p.R1222W|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R1197W|CACNA1C_ENST00000399655.1_Missense_Mutation_p.R1197W	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1217					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCTCAAGGCCCGGCCCCTGCG	0.592																																						ENST00000399655.1																			0				NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.(3589-3591)Cgg>Tgg		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						90.0	98.0	95.0					12																	2719737		2125	4259	6384	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2719737C>T	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.3649C>T	12.37:g.2719737C>T	ENSP00000266376:p.Arg1217Trp					CACNA1C_ENST00000344100.3_Missense_Mutation_p.R1197W|CACNA1C_ENST00000399637.1_Missense_Mutation_p.R1197W|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R1197W|CACNA1C_ENST00000402845.3_Missense_Mutation_p.R1197W|CACNA1C_ENST00000347598.4_Missense_Mutation_p.R1217W|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R1197W|CACNA1C_ENST00000335762.5_Missense_Mutation_p.R1222W|CACNA1C_ENST00000399649.1_Missense_Mutation_p.R1197W|CACNA1C_ENST00000327702.7_Missense_Mutation_p.R1197W|CACNA1C_ENST00000399603.1_Missense_Mutation_p.R1197W|CACNA1C_ENST00000399641.1_Missense_Mutation_p.R1197W|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R1197W|CACNA1C_ENST00000399606.1_Missense_Mutation_p.R1217W|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R1197W|CACNA1C_ENST00000480911.1_Missense_Mutation_p.R1197W|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R1197W|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R1197W|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R1197W|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R1197W|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R1197W|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R1197W|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R1197W	p.R1197W	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	28	3854	+			1217			Dihydropyridine binding (By similarity).		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.3589C>T	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	C	34	5.318408	0.95682	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96716	-4.05;-4.05;-4.08;-4.05;-4.04;-4.04;-4.06;-3.97;-4.0;-4.05;-3.98;-3.98;-4.06;-4.1;-3.97;-3.89;-4.09;-4.06;-4.05;-4.08;-3.99;-4.06;-4.1	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.98375	0.9460	M	0.87682	2.9	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;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;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;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.997;0.997;0.987;0.997;0.997;0.997;0.999;0.994;0.994;0.997;0.996;0.992;0.998;0.993;0.996;0.995;0.998;0.999;0.998;0.997;0.999;0.999;0.997;0.992;0.996	D	0.99274	1.0894	10	0.87932	D	0	.	19.1876	0.93649	0.0:1.0:0.0:0.0	.	1197;1194;1217;1197;1197;1197;1197;1197;1197;1217;1197;1168;1217;1197;1197;1197;1197;1197;1197;1197;1197;1197;1197;1197;1197	Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;F5H638;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	W	1222;1197;1197;1197;1197;1197;1197;1197;1197;1197;1217;1217;1197;1197;1197;1197;1197;1197;1197;1197;1197;1197;1197;1038	ENSP00000336982:R1222W;ENSP00000382563:R1197W;ENSP00000437936:R1197W;ENSP00000382552:R1197W;ENSP00000382547:R1197W;ENSP00000382506:R1197W;ENSP00000382530:R1197W;ENSP00000382546:R1197W;ENSP00000382500:R1197W;ENSP00000382549:R1197W;ENSP00000266376:R1217W;ENSP00000382515:R1217W;ENSP00000382510:R1197W;ENSP00000341092:R1197W;ENSP00000382537:R1197W;ENSP00000329877:R1197W;ENSP00000382557:R1197W;ENSP00000385724:R1197W;ENSP00000382512:R1197W;ENSP00000382542:R1197W;ENSP00000382526:R1197W;ENSP00000385896:R1197W;ENSP00000382504:R1197W	ENSP00000323129:R1038W	R	+	1	2	CACNA1C	2589998	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.995000	0.70631	2.610000	0.88304	0.655000	0.94253	CGG		0.592	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		18	70	0	0	0	1	0	18	70				
MAP2K2	5605	broad.mit.edu	37	19	4102431	4102431	+	Missense_Mutation	SNP	C	C	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr19:4102431C>A	ENST00000262948.5	-	4	724	c.471G>T	c.(469-471)caG>caT	p.Q157H	MAP2K2_ENST00000599345.1_5'UTR|MAP2K2_ENST00000394867.4_Missense_Mutation_p.Q60H	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	157	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|MAPK cascade (GO:0000165)|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)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of cell motility (GO:2000147)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|scaffold protein binding (GO:0097110)						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	Bosutinib(DB06616)|Trametinib(DB08911)	CTTTCAGCACCTGGTCCAGGG	0.667																																						ENST00000262948.5																			0											c.(469-471)caG>caT		mitogen-activated protein kinase kinase 2							48.0	39.0	42.0					19																	4102431		2201	4300	6501	SO:0001583	missense	5605				activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr19:4102431C>A	L11285	CCDS12120.1	19p13.3	2014-09-17			ENSG00000126934	ENSG00000126934	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6842	protein-coding gene	gene with protein product		601263		PRKMK2		8388392	Standard	NM_030662		Approved	MEK2	uc002lzk.3	P36507	OTTHUMG00000134286	ENST00000262948.5:c.471G>T	19.37:g.4102431C>A	ENSP00000262948:p.Gln157His					MAP2K2_ENST00000599345.1_5'UTR|MAP2K2_ENST00000394867.4_Missense_Mutation_p.Q60H	p.Q157H	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	4	724	-		Hepatocellular(1079;0.137)	157			Protein kinase.			Missense_Mutation	SNP	ENST00000262948.5	37	c.471G>T	CCDS12120.1	.	.	.	.	.	.	.	.	.	.	c	8.421	0.846336	0.16963	.	.	ENSG00000126934	ENST00000262948;ENST00000394867	D;D	0.92647	-3.08;-3.08	4.18	3.12	0.35913	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	0.85682	D	0.000000	D	0.90652	0.7068	N	0.25789	0.76	0.50313	D	0.999866	D	0.55385	0.971	D	0.67231	0.95	D	0.86988	0.2108	10	0.23302	T	0.38	-29.294	8.9646	0.35867	0.0:0.8184:0.0:0.1816	.	157	P36507	MP2K2_HUMAN	H	157;60	ENSP00000262948:Q157H;ENSP00000378336:Q60H	ENSP00000262948:Q157H	Q	-	3	2	MAP2K2	4053431	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	1.915000	0.39976	1.885000	0.54596	0.462000	0.41574	CAG		0.667	MAP2K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258957.2			4	8	1	0	0.150653	1	0.151685	4	8				
HDAC6	10013	broad.mit.edu	37	X	48683003	48683003	+	Missense_Mutation	SNP	A	A	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chrX:48683003A>T	ENST00000334136.5	+	29	3807	c.3629A>T	c.(3628-3630)gAt>gTt	p.D1210V	HDAC6_ENST00000376619.2_Missense_Mutation_p.D1210V|HDAC6_ENST00000444343.2_Missense_Mutation_p.D1224V			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	1210					aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	TTTGGGGAGGATATGCCCCAC	0.547																																					Pancreas(112;205 1675 2305 8976 15959)	ENST00000334136.5																			0				breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(3628-3630)gAt>gTt		histone deacetylase 6	Vorinostat(DB02546)						134.0	95.0	108.0					X																	48683003		2203	4300	6503	SO:0001583	missense	10013				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding	g.chrX:48683003A>T	AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 90"""	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.3629A>T	X.37:g.48683003A>T	ENSP00000334061:p.Asp1210Val					HDAC6_ENST00000376619.2_Missense_Mutation_p.D1210V|HDAC6_ENST00000444343.2_Missense_Mutation_p.D1224V	p.D1210V			Q9UBN7	HDAC6_HUMAN			29	3807	+			1210					O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	ENST00000334136.5	37	c.3629A>T	CCDS14306.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.05|12.05	1.821797|1.821797	0.32237|0.32237	.|.	.|.	ENSG00000094631|ENSG00000094631	ENST00000444343;ENST00000334136;ENST00000376619|ENST00000430858	T;T;T|.	0.61392|.	0.11;0.11;0.11|.	5.31|5.31	1.46|1.46	0.22682|0.22682	Zinc finger, RING/FYVE/PHD-type (1);|.	0.818706|.	0.10810|.	N|.	0.631734|.	T|T	0.47857|0.47857	0.1468|0.1468	L|L	0.33485|0.33485	1.01|1.01	0.58432|0.58432	D|D	0.99999|0.99999	B;P;P;B|.	0.38565|.	0.174;0.637;0.637;0.174|.	B;B;B;B|.	0.30105|.	0.049;0.111;0.111;0.049|.	T|T	0.18461|0.18461	-1.0336|-1.0336	10|5	0.48119|.	T|.	0.1|.	-4.2725|-4.2725	7.9276|7.9276	0.29883|0.29883	0.741:0.0:0.259:0.0|0.741:0.0:0.259:0.0	.|.	1200;573;858;1210|.	B4DZN1;B3KY98;B3KVK5;Q9UBN7|.	.;.;.;HDAC6_HUMAN|.	V|L	1224;1210;1210|79	ENSP00000398566:D1224V;ENSP00000334061:D1210V;ENSP00000365804:D1210V|.	ENSP00000334061:D1210V|.	D|I	+|+	2|1	0|0	HDAC6|HDAC6	48567947|48567947	0.983000|0.983000	0.35010|0.35010	0.007000|0.007000	0.13788|0.13788	0.622000|0.622000	0.37654|0.37654	2.424000|2.424000	0.44714|0.44714	-0.029000|-0.029000	0.13827|0.13827	-0.323000|-0.323000	0.08544|0.08544	GAT|ATA		0.547	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2	NM_006044		7	28	0	0	0	1	0	7	28				
INIP	58493	broad.mit.edu	37	9	115456514	115456514	+	Splice_Site	SNP	C	C	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr9:115456514C>T	ENST00000374242.4	-	3	331		c.e3-1		INIP_ENST00000374234.1_Splice_Site|INIP_ENST00000374236.1_Splice_Site|INIP_ENST00000374238.1_Splice_Site|INIP_ENST00000497712.2_Splice_Site	NM_021218.1	NP_067041.1	Q9NRY2	SOSSC_HUMAN	INTS3 and NABP interacting protein						cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)|SOSS complex (GO:0070876)											TTTTGAAAACCTAAAAAAAAG	0.353																																						ENST00000374242.4																			0											c.e3-1		INTS3 and NABP interacting protein							89.0	86.0	87.0					9																	115456514		2203	4299	6502	SO:0001630	splice_region_variant	58493							g.chr9:115456514C>T	AF161411	CCDS6785.1	9q32	2012-06-19	2012-06-19	2012-06-19	ENSG00000148153	ENSG00000148153			24994	protein-coding gene	gene with protein product	"""hSSB-interacting protein 1"", ""sensor of single-strand DNA complex subunit C"", ""minute INTS3/hSSB-associated element"""	613273	"""chromosome 9 open reading frame 80"""	C9orf80		11042152	Standard	NM_021218		Approved	HSPC043, hSSBIP1, SOSS-C, MISE	uc004bgg.3	Q9NRY2	OTTHUMG00000020509	ENST00000374242.4:c.26-1G>A	9.37:g.115456514C>T						INIP_ENST00000374236.1_Splice_Site|INIP_ENST00000374238.1_Splice_Site|INIP_ENST00000374234.1_Splice_Site|INIP_ENST00000497712.2_Splice_Site		NM_021218.1	NP_067041.1					3	331	-								Q5VWJ7|Q96E04|Q9P090	Splice_Site	SNP	ENST00000374242.4	37		CCDS6785.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.517495	0.85495	.	.	ENSG00000148153	ENST00000374242	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5958	0.95536	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C9orf80	114496335	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.666000	0.74446	2.806000	0.96561	0.655000	0.94253	.		0.353	INIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053692.2	NM_021218	Intron	15	18	0	0	0	1	0	15	18				
GOLPH3L	55204	broad.mit.edu	37	1	150667254	150667254	+	Missense_Mutation	SNP	T	T	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr1:150667254T>A	ENST00000271732.3	-	2	105	c.61A>T	c.(61-63)Atg>Ttg	p.M21L	GOLPH3L_ENST00000540514.1_Missense_Mutation_p.M21L|GOLPH3L_ENST00000479757.1_5'UTR	NM_018178.5	NP_060648.2	Q9H4A5	GLP3L_HUMAN	golgi phosphoprotein 3-like	21					Golgi organization (GO:0007030)|positive regulation of protein secretion (GO:0050714)	Golgi membrane (GO:0000139)|trans-Golgi network membrane (GO:0032588)	phosphatidylinositol-4-phosphate binding (GO:0070273)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			TCACTTTCCATCTTCTTTTCA	0.428																																						ENST00000271732.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8						c.(61-63)Atg>Ttg		golgi phosphoprotein 3-like							185.0	164.0	171.0					1																	150667254		2203	4300	6503	SO:0001583	missense	55204					Golgi cisterna membrane		g.chr1:150667254T>A	AJ296153	CCDS966.1	1q21	2008-02-05			ENSG00000143457	ENSG00000143457			24882	protein-coding gene	gene with protein product		612208					Standard	NM_018178		Approved	GPP34R	uc001evj.2	Q9H4A5	OTTHUMG00000035009	ENST00000271732.3:c.61A>T	1.37:g.150667254T>A	ENSP00000271732:p.Met21Leu					GOLPH3L_ENST00000479757.1_5'UTR|GOLPH3L_ENST00000540514.1_Missense_Mutation_p.M21L	p.M21L	NM_018178.5	NP_060648.2	Q9H4A5	GLP3L_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)		2	105	-	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		21					B1AN09|B7Z6N3|Q9NVK0	Missense_Mutation	SNP	ENST00000271732.3	37	c.61A>T	CCDS966.1	.	.	.	.	.	.	.	.	.	.	T	12.17	1.856566	0.32791	.	.	ENSG00000143457	ENST00000271732;ENST00000369003;ENST00000540514;ENST00000427665	.	.	.	5.97	-1.82	0.07857	.	0.720175	0.12297	N	0.481514	T	0.04182	0.0116	N	0.08118	0	0.22858	N	0.998645	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39078	-0.9631	9	0.23891	T	0.37	-0.5675	2.3304	0.04234	0.1189:0.4206:0.2124:0.2482	.	21;21	F5H4M3;Q9H4A5	.;GLP3L_HUMAN	L	21	.	ENSP00000271732:M21L	M	-	1	0	GOLPH3L	148933878	0.016000	0.18221	0.967000	0.41034	0.919000	0.55068	-0.555000	0.05999	-0.139000	0.11414	-0.291000	0.09656	ATG		0.428	GOLPH3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084734.1	NM_018178		37	23	0	0	0	1	0	37	23				
PLCB1	23236	broad.mit.edu	37	20	8769136	8769136	+	Missense_Mutation	SNP	A	A	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr20:8769136A>T	ENST00000338037.6	+	28	3179	c.3152A>T	c.(3151-3153)aAc>aTc	p.N1051I	PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378641.3_Missense_Mutation_p.N1051I|PLCB1_ENST00000378637.2_Missense_Mutation_p.N1051I	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1051					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GAGTGTCAGAACAATCAGTTA	0.373																																						ENST00000378641.3																			0				NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						c.(3151-3153)aAc>aTc		phospholipase C, beta 1 (phosphoinositide-specific)							71.0	68.0	69.0					20																	8769136		2203	4300	6503	SO:0001583	missense	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8769136A>T	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.3152A>T	20.37:g.8769136A>T	ENSP00000338185:p.Asn1051Ile					PLCB1_ENST00000338037.6_Missense_Mutation_p.N1051I|PLCB1_ENST00000378637.2_Missense_Mutation_p.N1051I|PLCB1_ENST00000494924.1_3'UTR	p.N1051I	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN			28	3627	+			1051					D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	c.3152A>T	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	A	14.90	2.672365	0.47781	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	T;T;T	0.44083	0.93;0.93;0.93	5.28	3.03	0.35002	PLC-beta, C-terminal (1);	0.269977	0.44285	D	0.000479	T	0.33614	0.0869	N	0.25647	0.755	0.40512	D	0.98074	P;B	0.52316	0.952;0.27	P;B	0.49226	0.603;0.239	T	0.06789	-1.0807	10	0.36615	T	0.2	.	7.8623	0.29517	0.7742:0.0:0.2258:0.0	.	1051;1051	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	I	1051;1051;1051;971;971	ENSP00000367908:N1051I;ENSP00000338185:N1051I;ENSP00000367904:N1051I	ENSP00000338185:N1051I	N	+	2	0	PLCB1	8717136	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.774000	0.47694	0.964000	0.38108	0.460000	0.39030	AAC		0.373	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			5	10	0	0	0	1	0	5	10				
MFAP4	4239	broad.mit.edu	37	17	19289768	19289768	+	Missense_Mutation	SNP	C	C	G			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr17:19289768C>G	ENST00000299610.4	-	3	179	c.95G>C	c.(94-96)aGg>aCg	p.R32T	MFAP4_ENST00000395592.2_Missense_Mutation_p.R56T|MFAP4_ENST00000497081.2_Missense_Mutation_p.R57T|MFAP4_ENST00000574313.2_5'Flank	NM_002404.2	NP_002395.1	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4	32	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|cellular response to UV-B (GO:0071493)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|regulation of collagen metabolic process (GO:0010712)|UV protection (GO:0009650)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)				large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					AAGGCAAAACCTCTCCAGAGC	0.607																																						ENST00000395592.2																			0				large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10						c.(166-168)aGg>aCg		microfibrillar-associated protein 4							62.0	53.0	56.0					17																	19289768		2203	4300	6503	SO:0001583	missense	4239				cell adhesion|signal transduction	microfibril	receptor binding	g.chr17:19289768C>G	L38486	CCDS11208.1, CCDS56023.1	17p11.2	2013-02-06			ENSG00000166482	ENSG00000166482		"""Fibrinogen C domain containing"""	7035	protein-coding gene	gene with protein product	"""microfibril-associated glycoprotein 4"""	600596				7633408	Standard	NM_001198695		Approved		uc002gvs.3	P55083	OTTHUMG00000059585	ENST00000299610.4:c.95G>C	17.37:g.19289768C>G	ENSP00000299610:p.Arg32Thr					MFAP4_ENST00000497081.2_Missense_Mutation_p.R57T|MFAP4_ENST00000299610.4_Missense_Mutation_p.R32T	p.R56T	NM_001198695.1	NP_001185624.1	P55083	MFAP4_HUMAN			3	238	-	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)		32			Fibrinogen C-terminal.		A8KAJ1|A8MVM2|B4E317|Q6P680	Missense_Mutation	SNP	ENST00000299610.4	37	c.167G>C	CCDS11208.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.287185	0.23478	.	.	ENSG00000166482	ENST00000395592;ENST00000299610	T;T	0.54071	0.59;0.59	5.0	0.0151	0.14103	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (1);	0.669254	0.13754	N	0.365042	T	0.26195	0.0639	N	0.08118	0	0.09310	N	1	B;B	0.23058	0.028;0.079	B;B	0.18263	0.014;0.021	T	0.22034	-1.0228	10	0.12766	T	0.61	.	9.1331	0.36857	0.0:0.4176:0.0:0.5824	.	32;56	P55083;A8MVM2	MFAP4_HUMAN;.	T	56;32	ENSP00000378957:R56T;ENSP00000299610:R32T	ENSP00000299610:R32T	R	-	2	0	MFAP4	19230361	0.008000	0.16893	0.136000	0.22124	0.845000	0.48019	-0.261000	0.08694	-0.219000	0.10003	-0.300000	0.09419	AGG		0.607	MFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132493.2	NM_002404		11	9	0	0	0	1	0	11	9				
SYT9	143425	broad.mit.edu	37	11	7324329	7324329	+	Missense_Mutation	SNP	G	G	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr11:7324329G>A	ENST00000318881.6	+	2	442	c.205G>A	c.(205-207)Gtg>Atg	p.V69M	SYT9_ENST00000396716.2_Missense_Mutation_p.V37M	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	69					positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		TCTCTTTGGCGTGTCTCTCTT	0.527																																						ENST00000318881.6																			0				NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38						c.(205-207)Gtg>Atg		synaptotagmin IX							220.0	197.0	205.0					11																	7324329		2201	4296	6497	SO:0001583	missense	143425					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr11:7324329G>A	AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"""Synaptotagmins"""	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.205G>A	11.37:g.7324329G>A	ENSP00000324419:p.Val69Met					SYT9_ENST00000396716.2_Missense_Mutation_p.V37M	p.V69M	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN		Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)	2	442	+			69						Missense_Mutation	SNP	ENST00000318881.6	37	c.205G>A	CCDS7778.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.848931	0.91277	.	.	ENSG00000170743	ENST00000396716;ENST00000318881	T;T	0.52754	0.65;0.65	5.91	5.91	0.95273	.	0.000000	0.64402	D	0.000008	T	0.65037	0.2653	L	0.52573	1.65	0.58432	D	0.999999	D	0.89917	1.0	D	0.79108	0.992	T	0.65166	-0.6234	10	0.87932	D	0	.	17.799	0.88580	0.0:0.0:1.0:0.0	.	69	Q86SS6	SYT9_HUMAN	M	37;69	ENSP00000379944:V37M;ENSP00000324419:V69M	ENSP00000324419:V69M	V	+	1	0	SYT9	7280905	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	9.444000	0.97578	2.814000	0.96858	0.650000	0.86243	GTG		0.527	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384483.1	NM_175733		17	83	0	0	0	1	0	17	83				
CFTR	1080	broad.mit.edu	37	7	117232264	117232264	+	Missense_Mutation	SNP	A	A	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr7:117232264A>T	ENST00000003084.6	+	14	2175	c.2043A>T	c.(2041-2043)gaA>gaT	p.E681D	CFTR_ENST00000454343.1_Missense_Mutation_p.E620D	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	681					cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	CCTGGACAGAAACAAAAAAAC	0.363									Cystic Fibrosis																													ENST00000003084.6																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69						c.(2041-2043)gaA>gaT		cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	Bumetanide(DB00887)|Glibenclamide(DB01016)						39.0	41.0	40.0					7																	117232264		2203	4300	6503	SO:0001583	missense	1080	Cystic Fibrosis	Familial Cancer Database	CF	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	g.chr7:117232264A>T	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.2043A>T	7.37:g.117232264A>T	ENSP00000003084:p.Glu681Asp					CFTR_ENST00000454343.1_Missense_Mutation_p.E620D	p.E681D	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		14	2175	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		681					Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	c.2043A>T	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	A	7.164	0.586276	0.13749	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.95788	-3.81;-3.81;-3.81	5.63	-1.12	0.09808	.	0.181977	0.64402	N	0.000017	D	0.91205	0.7229	M	0.72479	2.2	0.29037	N	0.885356	B	0.06786	0.001	B	0.16289	0.015	T	0.79729	-0.1681	10	0.29301	T	0.29	-10.1405	2.1578	0.03816	0.5718:0.1204:0.1924:0.1154	.	681	P13569	CFTR_HUMAN	D	681;620;651	ENSP00000003084:E681D;ENSP00000403677:E620D;ENSP00000389119:E651D	ENSP00000003084:E681D	E	+	3	2	CFTR	117019500	0.665000	0.27466	0.003000	0.11579	0.241000	0.25554	1.255000	0.32909	-0.338000	0.08413	-0.371000	0.07208	GAA		0.363	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		21	18	0	0	0	1	0	21	18				
PLEKHA7	144100	broad.mit.edu	37	11	16812675	16812675	+	Silent	SNP	C	C	T	rs201781980	byFrequency	TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr11:16812675C>T	ENST00000355661.3	-	20	2827	c.2817G>A	c.(2815-2817)ccG>ccA	p.P939P	PLEKHA7_ENST00000531066.1_Silent_p.P939P|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000332954.4_5'UTR|PLEKHA7_ENST00000448080.2_Silent_p.P940P			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	939	Pro-rich.				epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TTGGCAGAGGCGGCACAGCCG	0.642													C|||	2	0.000399361	0.0	0.0029	5008	,	,		16631	0.0		0.0	False		,,,				2504	0.0					ENST00000355661.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						c.(2815-2817)ccG>ccA		pleckstrin homology domain containing, family A member 7							29.0	33.0	32.0					11																	16812675		2200	4294	6494	SO:0001819	synonymous_variant	144100				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	g.chr11:16812675C>T	BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"""Pleckstrin homology (PH) domain containing"""	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.2817G>A	11.37:g.16812675C>T						PLEKHA7_ENST00000531066.1_Silent_p.P939P|PLEKHA7_ENST00000448080.2_Silent_p.P940P|PLEKHA7_ENST00000332954.4_5'UTR|PLEKHA7_ENST00000532079.1_Intron	p.P939P			Q6IQ23	PKHA7_HUMAN			20	2827	-			939			Pro-rich.		B4DK33|B4DWC3|Q86VZ7	Silent	SNP	ENST00000355661.3	37	c.2817G>A	CCDS31434.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	5.635	0.301786	0.10678	.	.	ENSG00000166689	ENST00000530489	.	.	.	5.43	-10.9	0.00192	.	.	.	.	.	T	0.42086	0.1187	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50767	-0.8789	4	.	.	.	-16.9819	5.7043	0.17899	0.1352:0.2691:0.4508:0.1449	.	.	.	.	H	571	.	.	R	-	2	0	PLEKHA7	16769251	0.000000	0.05858	0.381000	0.26106	0.604000	0.37047	-2.961000	0.00672	-2.480000	0.00523	-0.658000	0.03865	CGC		0.642	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	NM_175058		27	32	0	0	0	1	0	27	32				
SHANK2	22941	broad.mit.edu	37	11	70332420	70332420	+	Silent	SNP	G	G	A	rs370885363		TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr11:70332420G>A	ENST00000423696.2	-	15	2877	c.2841C>T	c.(2839-2841)aaC>aaT	p.N947N	SHANK2_ENST00000449833.2_Silent_p.N731N|SHANK2_ENST00000409161.1_Silent_p.N730N|SHANK2_ENST00000338508.4_Silent_p.N1327N			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	947					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CCTGCAGGGCGTTGTCCAGCT	0.572																																						ENST00000338508.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(3979-3981)aaC>aaT		SH3 and multiple ankyrin repeat domains 2		G	,	1,4399	2.1+/-5.4	0,1,2199	114.0	100.0	105.0		3832,2214	-0.5	0.0	11		105	0,8588		0,0,4294	no	coding-synonymous,coding-synonymous	SHANK2	NM_012309.3,NM_133266.3	,	0,1,6493	AA,AG,GG		0.0,0.0227,0.0077	,	1326/1850,738/1262	70332420	1,12987	2200	4294	6494	SO:0001819	synonymous_variant	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70332420G>A	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.2841C>T	11.37:g.70332420G>A						SHANK2_ENST00000449833.2_Silent_p.N731N|SHANK2_ENST00000423696.2_Silent_p.N947N|SHANK2_ENST00000409161.1_Silent_p.N730N	p.N1327N			Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		32	3980	-			947					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Silent	SNP	ENST00000423696.2	37	c.3981C>T																																																																																					0.572	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		12	173	0	0	0	1	0	12	173				
SLC4A4	8671	broad.mit.edu	37	4	72338772	72338772	+	Intron	SNP	G	G	T	rs548144688	byFrequency	TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr4:72338772G>T	ENST00000264485.5	+	14	2020				SLC4A4_ENST00000340595.3_Intron|SLC4A4_ENST00000512686.1_Missense_Mutation_p.C619F|SLC4A4_ENST00000425175.1_Intron|SLC4A4_ENST00000351898.6_Intron|SLC4A4_ENST00000514331.1_3'UTR	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4						bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	TCAACATGCTGTCATGGTCCT	0.428																																						ENST00000512686.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(1855-1857)tGt>tTt		solute carrier family 4 (sodium bicarbonate cotransporter), member 4																																				SO:0001627	intron_variant	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72338772G>T	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.1903+85G>T	4.37:g.72338772G>T						SLC4A4_ENST00000425175.1_Intron|SLC4A4_ENST00000351898.6_Intron|SLC4A4_ENST00000264485.5_Intron|SLC4A4_ENST00000340595.3_Intron|SLC4A4_ENST00000514331.1_3'UTR	p.C619F			Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		11	2052	+			0					C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	37	c.1856G>T	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	G	8.361	0.833013	0.16820	.	.	ENSG00000080493	ENST00000512686	T	0.62105	0.05	4.1	-5.26	0.02772	.	.	.	.	.	T	0.39545	0.1082	.	.	.	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.13407	0.005;0.009	T	0.24512	-1.0158	7	.	.	.	.	8.9574	0.35827	0.1714:0.2538:0.5748:0.0	.	619;643	Q9Y6R1-3;Q9Y6R3	.;.	F	619	ENSP00000422400:C619F	.	C	+	2	0	SLC4A4	72557636	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-2.466000	0.00994	-1.127000	0.02925	-0.373000	0.07131	TGT		0.428	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		18	12	1	0	1.67942e-08	1	1.99092e-08	18	12				
MYH3	4621	broad.mit.edu	37	17	10541586	10541586	+	Missense_Mutation	SNP	C	C	T	rs558085793		TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr17:10541586C>T	ENST00000583535.1	-	27	3590	c.3503G>A	c.(3502-3504)cGg>cAg	p.R1168Q	MYH3_ENST00000226209.7_Missense_Mutation_p.R1168Q	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1168					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CTCCGCCTCCCGCTTCTTGTT	0.642													C|||	1	0.000199681	0.0	0.0	5008	,	,		16295	0.001		0.0	False		,,,				2504	0.0					ENST00000583535.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						c.(3502-3504)cGg>cAg		myosin, heavy chain 3, skeletal muscle, embryonic							70.0	62.0	65.0					17																	10541586		2203	4300	6503	SO:0001583	missense	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10541586C>T		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.3503G>A	17.37:g.10541586C>T	ENSP00000464317:p.Arg1168Gln					MYH3_ENST00000226209.7_Missense_Mutation_p.R1168Q	p.R1168Q	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN			27	3590	-			1168					Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	c.3503G>A	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	C	36	5.850351	0.97023	.	.	ENSG00000109063	ENST00000226209	D	0.85013	-1.93	5.45	5.45	0.79879	Myosin tail (1);	.	.	.	.	D	0.94169	0.8129	M	0.90922	3.16	0.45914	D	0.998758	D	0.89917	1.0	D	0.85130	0.997	D	0.93805	0.7104	9	0.44086	T	0.13	.	19.661	0.95871	0.0:1.0:0.0:0.0	.	1168	P11055	MYH3_HUMAN	Q	1168	ENSP00000226209:R1168Q	ENSP00000226209:R1168Q	R	-	2	0	MYH3	10482311	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.776000	0.85560	2.714000	0.92807	0.563000	0.77884	CGG		0.642	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		25	49	0	0	0	1	0	25	49				
KCNC1	3746	broad.mit.edu	37	11	17793947	17793947	+	Missense_Mutation	SNP	G	G	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr11:17793947G>A	ENST00000379472.3	+	2	1336	c.1306G>A	c.(1306-1308)Gtg>Atg	p.V436M	KCNC1_ENST00000265969.6_Missense_Mutation_p.V436M	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	436					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	GCCCGTCATCGTGAACAATTT	0.567																																						ENST00000379472.3																			0				breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						c.(1306-1308)Gtg>Atg		potassium voltage-gated channel, Shaw-related subfamily, member 1							63.0	67.0	66.0					11																	17793947		2200	4293	6493	SO:0001583	missense	3746					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:17793947G>A	M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.1306G>A	11.37:g.17793947G>A	ENSP00000368785:p.Val436Met					KCNC1_ENST00000265969.6_Missense_Mutation_p.V436M	p.V436M	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN			2	1336	+			436					K4DI87	Missense_Mutation	SNP	ENST00000379472.3	37	c.1306G>A	CCDS7827.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829152	0.71258	.	.	ENSG00000129159	ENST00000265969;ENST00000379472	D;D	0.97731	-4.51;-4.51	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.98717	0.9569	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.942;0.999	D	0.99863	1.1086	10	0.87932	D	0	.	18.6354	0.91376	0.0:0.0:1.0:0.0	.	436;436	Q3KNS8;P48547	.;KCNC1_HUMAN	M	436	ENSP00000265969:V436M;ENSP00000368785:V436M	ENSP00000265969:V436M	V	+	1	0	KCNC1	17750523	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.397000	0.81536	0.561000	0.74099	GTG		0.567	KCNC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389389.1	NM_004976		42	95	0	0	0	1	0	42	95				
B4GALNT1	2583	broad.mit.edu	37	12	58021632	58021632	+	Missense_Mutation	SNP	C	C	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr12:58021632C>T	ENST00000341156.4	-	10	1737	c.1153G>A	c.(1153-1155)Gcg>Acg	p.A385T	B4GALNT1_ENST00000418555.2_Missense_Mutation_p.A330T	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	385					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid metabolic process (GO:0006687)|lipid glycosylation (GO:0030259)|lipid storage (GO:0019915)|protein glycosylation (GO:0006486)|spermatogenesis (GO:0007283)	integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|plasma membrane (GO:0005886)	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity (GO:0003947)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			TCGCGCACCGCGCCCCCCACC	0.716																																						ENST00000341156.4																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20						c.(1153-1155)Gcg>Acg		beta-1,4-N-acetyl-galactosaminyl transferase 1							8.0	10.0	9.0					12																	58021632		2162	4258	6420	SO:0001583	missense	2583				lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	g.chr12:58021632C>T	M83651	CCDS8950.1, CCDS61170.1, CCDS61171.1	12q13.3	2013-09-11	2006-01-08	2006-01-08	ENSG00000135454	ENSG00000135454	2.4.1.92	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	4117	protein-coding gene	gene with protein product	"""GD2 synthase, GM2 synthase"""	601873	"""UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)"", ""UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1"", ""spastic paraplegia 26"""	GALGT, SPG26		1601877, 23746551	Standard	NM_001478		Approved	beta1-4GalNAc-T	uc001spg.2	Q00973	OTTHUMG00000170190	ENST00000341156.4:c.1153G>A	12.37:g.58021632C>T	ENSP00000341562:p.Ala385Thr					B4GALNT1_ENST00000418555.2_Missense_Mutation_p.A330T	p.A385T	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		10	1737	-	Melanoma(17;0.122)		385					B4DE26|Q8N636	Missense_Mutation	SNP	ENST00000341156.4	37	c.1153G>A	CCDS8950.1	.	.	.	.	.	.	.	.	.	.	.	18.38	3.611729	0.66558	.	.	ENSG00000135454	ENST00000341156;ENST00000418555	T;T	0.76448	-1.02;-1.02	4.5	4.5	0.54988	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	T	0.81711	0.4880	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.955	T	0.80011	-0.1561	10	0.31617	T	0.26	-12.5352	16.1103	0.81259	0.0:1.0:0.0:0.0	.	330;385	B4DE26;Q00973	.;B4GN1_HUMAN	T	385;330	ENSP00000341562:A385T;ENSP00000401601:A330T	ENSP00000341562:A385T	A	-	1	0	B4GALNT1	56307899	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	4.343000	0.59348	2.347000	0.79759	0.462000	0.41574	GCG		0.716	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407853.1	NM_001478		5	8	0	0	0	1	0	5	8				
FOSL1	8061	broad.mit.edu	37	11	65660427	65660427	+	Missense_Mutation	SNP	C	C	G			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr11:65660427C>G	ENST00000312562.2	-	4	932	c.746G>C	c.(745-747)cGc>cCc	p.R249P	FOSL1_ENST00000448083.2_Missense_Mutation_p.R147P|FOSL1_ENST00000531493.1_Missense_Mutation_p.R213P|FOSL1_ENST00000532401.1_3'UTR	NM_005438.3	NP_005429.1	P15407	FOSL1_HUMAN	FOS-like antigen 1	249					cellular defense response (GO:0006968)|cellular response to extracellular stimulus (GO:0031668)|chemotaxis (GO:0006935)|female pregnancy (GO:0007565)|in utero embryonic development (GO:0001701)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to gravity (GO:0009629)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to virus (GO:0009615)|transcription from RNA polymerase II promoter (GO:0006366)|vitellogenesis (GO:0007296)	cytosol (GO:0005829)|neuron projection (GO:0043005)|nucleus (GO:0005634)|presynaptic membrane (GO:0042734)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	10				READ - Rectum adenocarcinoma(159;0.168)		GCTACTCTTGCGATGAGCTGA	0.617																																						ENST00000312562.2																			0				breast(1)|endometrium(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(745-747)cGc>cCc		FOS-like antigen 1							50.0	52.0	51.0					11																	65660427		2201	4296	6497	SO:0001583	missense	8061				cellular defense response|chemotaxis|positive regulation of cell proliferation|response to virus|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:65660427C>G	BC016648	CCDS8121.1, CCDS73324.1	11q13	2013-01-10			ENSG00000175592	ENSG00000175592		"""basic leucine zipper proteins"""	13718	protein-coding gene	gene with protein product		136515				2107490	Standard	XM_005274311		Approved	fra-1	uc001ogg.1	P15407	OTTHUMG00000166715	ENST00000312562.2:c.746G>C	11.37:g.65660427C>G	ENSP00000310170:p.Arg249Pro					FOSL1_ENST00000532401.1_3'UTR|FOSL1_ENST00000531493.1_Missense_Mutation_p.R213P|FOSL1_ENST00000448083.2_Missense_Mutation_p.R147P	p.R249P	NM_005438.3	NP_005429.1	P15407	FOSL1_HUMAN		READ - Rectum adenocarcinoma(159;0.168)	4	932	-			249					B4DR11|Q6FG51	Missense_Mutation	SNP	ENST00000312562.2	37	c.746G>C	CCDS8121.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.767139	0.90020	.	.	ENSG00000175592	ENST00000448083;ENST00000312562;ENST00000531493	T	0.80566	-1.39	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	D	0.88800	0.6535	M	0.69523	2.12	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.995	D	0.90139	0.4212	10	0.87932	D	0	-18.1726	15.7373	0.77856	0.0:1.0:0.0:0.0	.	147;249	B4DR11;P15407	.;FOSL1_HUMAN	P	147;249;213	ENSP00000310170:R249P	ENSP00000310170:R249P	R	-	2	0	FOSL1	65417003	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.498000	0.53302	2.287000	0.76781	0.561000	0.74099	CGC		0.617	FOSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391168.2	NM_005438		50	32	0	0	0	1	0	50	32				
RLTPR	146206	broad.mit.edu	37	16	67683844	67683844	+	Silent	SNP	G	G	A	rs371663153		TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr16:67683844G>A	ENST00000334583.6	+	21	2383	c.2055G>A	c.(2053-2055)ccG>ccA	p.P685P	RLTPR_ENST00000545661.1_Silent_p.P649P	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	685					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GCAGCCGCCCGGAACTGACAG	0.647																																						ENST00000334583.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18						c.(2053-2055)ccG>ccA		RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing		G		0,4300		0,0,2150	38.0	47.0	44.0		2055	-10.2	0.4	16		44	1,8497		0,1,4248	no	coding-synonymous	RLTPR	NM_001013838.1		0,1,6398	AA,AG,GG		0.0118,0.0,0.0078		685/1436	67683844	1,12797	2150	4249	6399	SO:0001819	synonymous_variant	146206							g.chr16:67683844G>A	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"""RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein"", ""leucine rich repeat containing 16C"""	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.2055G>A	16.37:g.67683844G>A						RLTPR_ENST00000545661.1_Silent_p.P649P	p.P685P	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	21	2383	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	685					B8X2Z3	Silent	SNP	ENST00000334583.6	37	c.2055G>A	CCDS45513.1																																																																																				0.647	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838		12	50	0	0	0	1	0	12	50				
C6orf118	168090	broad.mit.edu	37	6	165715502	165715502	+	Silent	SNP	C	C	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr6:165715502C>T	ENST00000230301.8	-	2	329	c.309G>A	c.(307-309)gcG>gcA	p.A103A	C6orf118_ENST00000543069.1_5'UTR	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	103										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CCTTCATCCTCGCCACCTTCC	0.682																																						ENST00000230301.8																			0				breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(307-309)gcG>gcA		chromosome 6 open reading frame 118							61.0	65.0	63.0					6																	165715502		2203	4300	6503	SO:0001819	synonymous_variant	168090							g.chr6:165715502C>T		CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.309G>A	6.37:g.165715502C>T						C6orf118_ENST00000543069.1_5'UTR	p.A103A	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)	2	329	-		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)	103					Q8TC11	Silent	SNP	ENST00000230301.8	37	c.309G>A	CCDS5288.1																																																																																				0.682	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	NM_144980		50	71	0	0	0	1	0	50	71				
LSR	51599	broad.mit.edu	37	19	35741544	35741544	+	Missense_Mutation	SNP	A	A	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr19:35741544A>T	ENST00000361790.3	+	2	739	c.580A>T	c.(580-582)Agg>Tgg	p.R194W	LSR_ENST00000347609.4_Missense_Mutation_p.R157W|LSR_ENST00000597933.1_3'UTR|LSR_ENST00000360798.3_Missense_Mutation_p.R194W|LSR_ENST00000354900.3_Missense_Mutation_p.R194W|LSR_ENST00000427250.1_Missense_Mutation_p.R146W|AC002128.5_ENST00000604161.1_RNA|LSR_ENST00000602122.1_Missense_Mutation_p.R194W	NM_205834.3	NP_991403.1	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	194	Ig-like V-type.				embryo development (GO:0009790)|liver development (GO:0001889)	chylomicron (GO:0042627)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCAGGGCCGGAGGATTACCAT	0.652																																						ENST00000602122.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13						c.(580-582)Agg>Tgg		lipolysis stimulated lipoprotein receptor							26.0	25.0	26.0					19																	35741544		2203	4298	6501	SO:0001583	missense	51599				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity	g.chr19:35741544A>T	AF130366	CCDS12449.1, CCDS12450.1, CCDS12451.1, CCDS59376.1	19q13.12	2013-01-11			ENSG00000105699	ENSG00000105699		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29572	protein-coding gene	gene with protein product	"""lipolysis-stimulated remnant"", ""immunoglobulin-like domain containing receptor 3"""					10224102	Standard	NM_015925		Approved	LISCH7, ILDR3	uc002nyl.3	Q86X29		ENST00000361790.3:c.580A>T	19.37:g.35741544A>T	ENSP00000354575:p.Arg194Trp					LSR_ENST00000597933.1_3'UTR|LSR_ENST00000361790.3_Missense_Mutation_p.R194W|LSR_ENST00000427250.1_Missense_Mutation_p.R146W|LSR_ENST00000347609.4_Missense_Mutation_p.R157W|LSR_ENST00000354900.3_Missense_Mutation_p.R194W|LSR_ENST00000360798.3_Missense_Mutation_p.R194W	p.R194W			Q86X29	LSR_HUMAN	Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		2	1067	+	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		194			Ig-like V-type.		A6NDW3|B4DKL4|E9PHD4|O00112|O00426|Q6ZT80|Q8NBM0|Q9BT33|Q9UQL3	Missense_Mutation	SNP	ENST00000361790.3	37	c.580A>T	CCDS12450.1	.	.	.	.	.	.	.	.	.	.	A	19.17	3.775756	0.70107	.	.	ENSG00000105699	ENST00000361790;ENST00000354900;ENST00000360798;ENST00000347609;ENST00000427250	T;T;T;T;T	0.65178	4.15;4.15;4.15;4.15;-0.14	4.74	3.67	0.42095	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.103356	0.64402	D	0.000004	T	0.67487	0.2898	L	0.36672	1.1	0.25621	N	0.986409	D;D;D;D;D;D	0.89917	0.998;1.0;0.999;1.0;0.999;0.999	D;D;D;D;D;D	0.79784	0.972;0.983;0.992;0.993;0.972;0.981	T	0.57590	-0.7785	10	0.72032	D	0.01	-19.8545	9.9147	0.41427	0.83:0.1699:0.0:0.0	.	151;157;194;194;194;194	Q9BT33;Q86X29-2;Q86X29-3;A6NDW3;E9PHD4;Q86X29	.;.;.;.;.;LSR_HUMAN	W	194;194;194;157;146	ENSP00000354575:R194W;ENSP00000346976:R194W;ENSP00000354034:R194W;ENSP00000262627:R157W;ENSP00000394479:R146W	ENSP00000262627:R157W	R	+	1	2	LSR	40433384	0.995000	0.38212	1.000000	0.80357	0.979000	0.70002	1.919000	0.40015	2.006000	0.58801	0.459000	0.35465	AGG		0.652	LSR-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465513.2	NM_015925		4	29	0	0	0	1	0	4	29				
SYTL4	94121	broad.mit.edu	37	X	99942202	99942202	+	Missense_Mutation	SNP	C	C	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chrX:99942202C>A	ENST00000372989.1	-	13	1377	c.1046G>T	c.(1045-1047)gGt>gTt	p.G349V	SYTL4_ENST00000455616.1_Missense_Mutation_p.G349V|SYTL4_ENST00000263033.5_Missense_Mutation_p.G349V|SYTL4_ENST00000454200.2_Missense_Mutation_p.G351V|SYTL4_ENST00000372981.1_3'UTR|SYTL4_ENST00000276141.6_Missense_Mutation_p.G349V	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	349					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|multivesicular body sorting pathway (GO:0071985)|negative regulation of insulin secretion (GO:0046676)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	neurexin family protein binding (GO:0042043)|phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CCCGAAATCACCAGCTTCACT	0.522																																						ENST00000455616.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27						c.(1045-1047)gGt>gTt		synaptotagmin-like 4	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						103.0	82.0	89.0					X																	99942202		2203	4300	6503	SO:0001583	missense	94121				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding	g.chrX:99942202C>A		CCDS14472.1	Xq21.33	2008-07-31	2008-07-31		ENSG00000102362	ENSG00000102362			15588	protein-coding gene	gene with protein product	"""granuphilin-a"", ""exophilin-2"""	300723					Standard	NM_080737		Approved		uc010nnc.3	Q96C24	OTTHUMG00000022004	ENST00000372989.1:c.1046G>T	X.37:g.99942202C>A	ENSP00000362080:p.Gly349Val					SYTL4_ENST00000276141.6_Missense_Mutation_p.G349V|SYTL4_ENST00000263033.5_Missense_Mutation_p.G349V|SYTL4_ENST00000454200.2_Missense_Mutation_p.G351V|SYTL4_ENST00000372981.1_3'UTR|SYTL4_ENST00000372989.1_Missense_Mutation_p.G349V	p.G349V			Q96C24	SYTL4_HUMAN			12	1392	-			349					Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	Missense_Mutation	SNP	ENST00000372989.1	37	c.1046G>T	CCDS14472.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.892425	0.91889	.	.	ENSG00000102362	ENST00000372989;ENST00000455616;ENST00000454200;ENST00000276141;ENST00000263033	T;T;T;T;T	0.07567	3.18;3.18;3.18;3.18;3.18	5.98	5.98	0.97165	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.36138	0.0956	M	0.86097	2.795	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.09997	-1.0649	9	.	.	.	-11.9653	19.3864	0.94557	0.0:1.0:0.0:0.0	.	349	Q96C24	SYTL4_HUMAN	V	349;349;351;349;349	ENSP00000362080:G349V;ENSP00000390252:G349V;ENSP00000403556:G351V;ENSP00000276141:G349V;ENSP00000263033:G349V	.	G	-	2	0	SYTL4	99828858	1.000000	0.71417	0.995000	0.50966	0.985000	0.73830	7.554000	0.82212	2.532000	0.85374	0.594000	0.82650	GGT		0.522	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057488.1	NM_080737		10	58	1	0	1.58986e-06	1	1.79777e-06	10	58				
CDH9	1007	broad.mit.edu	37	5	26885932	26885932	+	Missense_Mutation	SNP	C	C	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr5:26885932C>T	ENST00000231021.4	-	11	1845	c.1673G>A	c.(1672-1674)cGc>cAc	p.R558H		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	558	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CATTTTGTTGCGACTGTAGCC	0.383																																					Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4																			0				breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(1672-1674)cGc>cAc		cadherin 9, type 2 (T1-cadherin)							67.0	64.0	65.0					5																	26885932		2203	4300	6503	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26885932C>T	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1673G>A	5.37:g.26885932C>T	ENSP00000231021:p.Arg558His						p.R558H	NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN			11	1845	-			558			Cadherin 5.		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.1673G>A	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	C	33	5.219895	0.95139	.	.	ENSG00000113100	ENST00000231021	T	0.60040	0.22	5.79	5.79	0.91817	Cadherin (4);Cadherin-like (1);	0.052610	0.85682	D	0.000000	D	0.83815	0.5336	H	0.95712	3.71	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.78314	0.973;0.991	D	0.88118	0.2830	9	.	.	.	.	18.5999	0.91246	0.0:1.0:0.0:0.0	.	151;558	B4DFP0;Q9ULB4	.;CADH9_HUMAN	H	558	ENSP00000231021:R558H	.	R	-	2	0	CDH9	26921689	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.931000	0.63469	2.740000	0.93945	0.563000	0.77884	CGC		0.383	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		7	33	0	0	0	1	0	7	33				
OR5D16	390144	broad.mit.edu	37	11	55606644	55606644	+	Silent	SNP	C	C	G			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr11:55606644C>G	ENST00000378396.1	+	1	417	c.417C>G	c.(415-417)tcC>tcG	p.S139S		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	139						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)				TTGCCATCTCCCAGAAACTCT	0.458																																						ENST00000378396.1																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(415-417)tcC>tcG		olfactory receptor, family 5, subfamily D, member 16							119.0	109.0	112.0					11																	55606644		2201	4296	6497	SO:0001819	synonymous_variant	390144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55606644C>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.417C>G	11.37:g.55606644C>G							p.S139S	NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN			1	417	+		all_epithelial(135;0.208)	139					Q6IF65|Q96RB4	Silent	SNP	ENST00000378396.1	37	c.417C>G	CCDS31512.1																																																																																				0.458	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496		37	50	0	0	0	1	0	37	50				
CXorf67	340602	broad.mit.edu	37	X	51150457	51150457	+	Missense_Mutation	SNP	C	C	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chrX:51150457C>A	ENST00000342995.2	+	1	691	c.589C>A	c.(589-591)Cag>Aag	p.Q197K				Q86X51	CX067_HUMAN	chromosome X open reading frame 67	197										breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						TCAGGCAACCCAGCCAGGCCC	0.632																																						ENST00000342995.2																			0				breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						c.(589-591)Cag>Aag		chromosome X open reading frame 67							33.0	21.0	25.0					X																	51150457		2203	4299	6502	SO:0001583	missense	340602							g.chrX:51150457C>A	BC046248		Xp11.22	2014-04-30			ENSG00000187690	ENSG00000187690			33738	protein-coding gene	gene with protein product						23959973	Standard	XR_113306		Approved			Q86X51	OTTHUMG00000187481	ENST00000342995.2:c.589C>A	X.37:g.51150457C>A	ENSP00000342680:p.Gln197Lys						p.Q197K							1	691	+									Missense_Mutation	SNP	ENST00000342995.2	37	c.589C>A		.	.	.	.	.	.	.	.	.	.	C	0.027	-1.362709	0.01235	.	.	ENSG00000187690	ENST00000342995	T	0.44482	0.92	3.76	0.735	0.18300	.	5.304430	0.00357	N	0.000021	T	0.19967	0.0480	.	.	.	0.09310	N	1	B	0.19200	0.034	B	0.21917	0.037	T	0.30268	-0.9984	9	0.02654	T	1	6.0343	6.1091	0.20090	0.2046:0.4017:0.3937:0.0	.	197	Q86X51	CX067_HUMAN	K	197	ENSP00000342680:Q197K	ENSP00000342680:Q197K	Q	+	1	0	CXorf67	51167197	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.265000	0.02844	0.030000	0.15379	0.600000	0.82982	CAG		0.632	CXorf67-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_203407		6	14	1	0	8.12818e-05	1	8.91674e-05	6	14				
HDAC9	9734	broad.mit.edu	37	7	18684301	18684301	+	Missense_Mutation	SNP	T	T	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr7:18684301T>A	ENST00000432645.2	+	8	911	c.911T>A	c.(910-912)gTt>gAt	p.V304D	HDAC9_ENST00000406072.1_Missense_Mutation_p.V291D|HDAC9_ENST00000524023.1_Missense_Mutation_p.V227D|HDAC9_ENST00000456174.2_Missense_Mutation_p.V276D|HDAC9_ENST00000405010.3_Missense_Mutation_p.V304D|HDAC9_ENST00000441542.2_Missense_Mutation_p.V307D|HDAC9_ENST00000401921.1_Missense_Mutation_p.V263D|HDAC9_ENST00000406451.4_Missense_Mutation_p.V304D|HDAC9_ENST00000428307.2_Missense_Mutation_p.V260D|HDAC9_ENST00000417496.2_Missense_Mutation_p.V302D	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	304	Interaction with MAPK10. {ECO:0000250}.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CAGCAAATGGTTTCACAGCAA	0.378																																						ENST00000406451.3																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82						c.(910-912)gTt>gAt		histone deacetylase 9	Valproic Acid(DB00313)						105.0	95.0	98.0					7																	18684301		1838	4085	5923	SO:0001583	missense	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18684301T>A	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.911T>A	7.37:g.18684301T>A	ENSP00000410337:p.Val304Asp					HDAC9_ENST00000441542.2_Missense_Mutation_p.V307D|HDAC9_ENST00000417496.2_Missense_Mutation_p.V302D|HDAC9_ENST00000432645.2_Missense_Mutation_p.V304D|HDAC9_ENST00000405010.3_Missense_Mutation_p.V304D|HDAC9_ENST00000524023.1_Missense_Mutation_p.V227D|HDAC9_ENST00000428307.2_Missense_Mutation_p.V260D|HDAC9_ENST00000456174.2_Missense_Mutation_p.V276D|HDAC9_ENST00000406072.1_Missense_Mutation_p.V291D|HDAC9_ENST00000401921.1_Missense_Mutation_p.V263D	p.V304D	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN			9	1061	+	all_lung(11;0.187)		304			Interaction with MAPK10 (By similarity).		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	c.911T>A	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	T	18.31	3.596092	0.66332	.	.	ENSG00000048052	ENST00000417496;ENST00000262069;ENST00000405010;ENST00000406451;ENST00000428307;ENST00000406072;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000456174;ENST00000524023;ENST00000341009	T;T;T;T;T;T;T;T;T;T	0.58506	0.85;0.92;0.37;0.86;0.85;0.33;0.37;0.37;0.91;0.88	5.74	5.74	0.90152	.	0.346376	0.24511	N	0.037896	T	0.66548	0.2800	L	0.44542	1.39	0.80722	D	1	P;P;P;P;P;P;D;D;D;D;P;D;P;D	0.76494	0.61;0.668;0.514;0.901;0.61;0.731;0.979;0.999;0.999;0.988;0.857;0.999;0.898;0.996	B;B;B;B;B;B;P;D;D;P;P;D;P;P	0.71656	0.136;0.405;0.431;0.346;0.353;0.326;0.58;0.961;0.974;0.715;0.58;0.974;0.609;0.853	T	0.60234	-0.7303	10	0.12430	T	0.62	-0.4183	16.0351	0.80621	0.0:0.0:0.0:1.0	.	227;276;304;291;302;304;307;263;307;304;276;304;304;282	E7EX34;C9JS87;Q9UKV0-4;B5MCF1;B7Z917;Q9UKV0-2;Q68D71;Q9UKV0-6;Q9UKV0-7;Q9UKV0;B7Z928;Q9UKV0-5;Q9UKV0-3;Q8N879	.;.;.;.;.;.;.;.;.;HDAC9_HUMAN;.;.;.;.	D	302;305;304;304;260;291;263;304;307;276;227;304	ENSP00000401669:V302D;ENSP00000384382:V304D;ENSP00000384657:V304D;ENSP00000395655:V260D;ENSP00000384017:V291D;ENSP00000383912:V263D;ENSP00000410337:V304D;ENSP00000408617:V307D;ENSP00000388568:V276D;ENSP00000430036:V227D	ENSP00000262069:V305D	V	+	2	0	HDAC9	18650826	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.368000	0.66133	2.186000	0.69663	0.533000	0.62120	GTT		0.378	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			17	11	0	0	0	1	0	17	11				
HIRA	7290	broad.mit.edu	37	22	19349267	19349267	+	Missense_Mutation	SNP	C	C	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr22:19349267C>A	ENST00000263208.5	-	16	2219	c.1963G>T	c.(1963-1965)Gtg>Ttg	p.V655L	HIRA_ENST00000546308.1_Missense_Mutation_p.V611L|HIRA_ENST00000541063.1_Missense_Mutation_p.V611L|HIRA_ENST00000340170.4_Intron	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	655	Interaction with CCNA1.|Interaction with PAX3. {ECO:0000250}.|Interaction with histone H2B.				anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					GACAGAGACACAGGCATGAGA	0.532																																						ENST00000263208.5																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37						c.(1963-1965)Gtg>Ttg		histone cell cycle regulator							211.0	186.0	195.0					22																	19349267		2203	4300	6503	SO:0001583	missense	7290				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr22:19349267C>A	X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"""WD repeat domain containing"""	4916	protein-coding gene	gene with protein product	"""DiGeorge critical region gene 1"""	600237	"""HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)"", ""HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"""	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.1963G>T	22.37:g.19349267C>A	ENSP00000263208:p.Val655Leu					HIRA_ENST00000340170.4_Intron|HIRA_ENST00000546308.1_Missense_Mutation_p.V611L|HIRA_ENST00000541063.1_Missense_Mutation_p.V611L	p.V655L	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN			16	2219	-	Colorectal(54;0.0993)		655			Interaction with CCNA1.|Interaction with PAX3 (By similarity).|Interaction with histone H2B.		Q05BU9|Q8IXN2	Missense_Mutation	SNP	ENST00000263208.5	37	c.1963G>T	CCDS13759.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.650343	0.29336	.	.	ENSG00000100084	ENST00000263208;ENST00000541063;ENST00000539600;ENST00000546308	T;T;T	0.71103	-0.54;-0.39;-0.35	5.3	-7.93	0.01156	.	0.623299	0.17419	N	0.174895	T	0.38852	0.1056	N	0.12182	0.205	0.58432	D	0.999993	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.25187	-1.0139	10	0.09590	T	0.72	-2.6885	8.6293	0.33908	0.0:0.3371:0.1066:0.5562	.	611;655	F5H4M2;P54198	.;HIRA_HUMAN	L	655;611;164;611	ENSP00000263208:V655L;ENSP00000446073:V611L;ENSP00000441870:V611L	ENSP00000263208:V655L	V	-	1	0	HIRA	17729267	0.026000	0.19158	0.000000	0.03702	0.704000	0.40688	0.167000	0.16602	-1.681000	0.01448	0.555000	0.69702	GTG		0.532	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2	NM_003325		46	81	1	0	1.00953e-15	1	1.25763e-15	46	81				
CXorf67	340602	broad.mit.edu	37	X	51150458	51150458	+	Missense_Mutation	SNP	A	A	G			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chrX:51150458A>G	ENST00000342995.2	+	1	692	c.590A>G	c.(589-591)cAg>cGg	p.Q197R				Q86X51	CX067_HUMAN	chromosome X open reading frame 67	197										breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						CAGGCAACCCAGCCAGGCCCT	0.632																																						ENST00000342995.2																			0				breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						c.(589-591)cAg>cGg		chromosome X open reading frame 67							33.0	21.0	25.0					X																	51150458		2203	4299	6502	SO:0001583	missense	340602							g.chrX:51150458A>G	BC046248		Xp11.22	2014-04-30			ENSG00000187690	ENSG00000187690			33738	protein-coding gene	gene with protein product						23959973	Standard	XR_113306		Approved			Q86X51	OTTHUMG00000187481	ENST00000342995.2:c.590A>G	X.37:g.51150458A>G	ENSP00000342680:p.Gln197Arg						p.Q197R							1	692	+									Missense_Mutation	SNP	ENST00000342995.2	37	c.590A>G		.	.	.	.	.	.	.	.	.	.	A	0.027	-1.362998	0.01235	.	.	ENSG00000187690	ENST00000342995	T	0.43294	0.95	3.76	-7.52	0.01341	.	5.304430	0.00357	N	0.000021	T	0.20536	0.0494	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.22730	-1.0208	9	0.11182	T	0.66	6.0343	7.3134	0.26488	0.3654:0.4211:0.2135:0.0	.	197	Q86X51	CX067_HUMAN	R	197	ENSP00000342680:Q197R	ENSP00000342680:Q197R	Q	+	2	0	CXorf67	51167198	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.981000	0.03766	-2.984000	0.00282	-1.151000	0.01829	CAG		0.632	CXorf67-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_203407		6	14	0	0	0	1	0	6	14				
TENM1	10178	broad.mit.edu	37	X	123519782	123519782	+	Missense_Mutation	SNP	G	G	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chrX:123519782G>A	ENST00000371130.3	-	28	5863	c.5800C>T	c.(5800-5802)Cgg>Tgg	p.R1934W	TENM1_ENST00000422452.2_Missense_Mutation_p.R1941W|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1934					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TAGATGTTCCGGTAGTAGCCC	0.507																																						ENST00000422452.2																			0											c.(5821-5823)Cgg>Tgg		teneurin transmembrane protein 1							146.0	124.0	131.0					X																	123519782		2203	4300	6503	SO:0001583	missense	10178							g.chrX:123519782G>A	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.5800C>T	X.37:g.123519782G>A	ENSP00000360171:p.Arg1934Trp					TENM1_ENST00000371130.3_Missense_Mutation_p.R1934W|STAG2_ENST00000469481.1_Intron	p.R1941W	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					29	5884	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.5821C>T	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	19.98	3.927018	0.73327	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.87887	-2.31;-2.27	5.67	2.72	0.32119	.	0.000000	0.85682	D	0.000000	D	0.92935	0.7752	M	0.80982	2.52	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.993;0.998;1.0	D	0.93144	0.6544	10	0.87932	D	0	.	14.1154	0.65149	0.0:0.0:0.6091:0.3909	.	1940;1941;1934	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	W	1934;1941	ENSP00000360171:R1934W;ENSP00000403954:R1941W	ENSP00000360171:R1934W	R	-	1	2	ODZ1	123347463	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.314000	0.43743	0.525000	0.28522	0.591000	0.81541	CGG		0.507	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		25	85	0	0	0	1	0	25	85				
DNM1P47	100216544	broad.mit.edu	37	15	102304772	102304772	+	RNA	SNP	T	T	C	rs199967915	byFrequency	TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr15:102304772T>C	ENST00000561463.1	+	0	12818									DNM1 pseudogene 47																		CACAGCGGCGTGACGAGACTC	0.587																																						ENST00000561463.1																			0																																																			100216544							g.chr15:102304772T>C	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102304772T>C														0	12818	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.587	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	16	0	0	0	1	0	3	16				
SHANK2	22941	broad.mit.edu	37	11	70333577	70333577	+	Missense_Mutation	SNP	C	C	T	rs146332040		TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr11:70333577C>T	ENST00000423696.2	-	15	1720	c.1684G>A	c.(1684-1686)Gtg>Atg	p.V562M	SHANK2_ENST00000449833.2_Missense_Mutation_p.V346M|SHANK2_ENST00000409161.1_Missense_Mutation_p.V345M|SHANK2_ENST00000338508.4_Missense_Mutation_p.V942M			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	562					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			ATGGTGGCCACGGTGTCGGAC	0.592																																						ENST00000338508.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(2824-2826)Gtg>Atg		SH3 and multiple ankyrin repeat domains 2		C	MET/VAL,MET/VAL	0,4400		0,0,2200	73.0	63.0	66.0		2675,1057	3.6	1.0	11	dbSNP_134	66	1,8587	1.2+/-3.3	0,1,4293	no	missense,missense	SHANK2	NM_012309.3,NM_133266.3	21,21	0,1,6493	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	941/1850,353/1262	70333577	1,12987	2200	4294	6494	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70333577C>T	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.1684G>A	11.37:g.70333577C>T	ENSP00000394536:p.Val562Met					SHANK2_ENST00000449833.2_Missense_Mutation_p.V346M|SHANK2_ENST00000423696.2_Missense_Mutation_p.V562M|SHANK2_ENST00000409161.1_Missense_Mutation_p.V345M	p.V942M			Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		32	2823	-			562					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.2824G>A		.	.	.	.	.	.	.	.	.	.	C	17.14	3.313352	0.60414	0.0	1.16E-4	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.41758	2.28;2.28;2.97;0.99;2.4;2.4	4.7	3.56	0.40772	.	0.413581	0.24339	N	0.039397	T	0.36413	0.0966	M	0.65975	2.015	0.80722	D	1	P;P;P	0.38863	0.65;0.579;0.588	B;B;B	0.32090	0.097;0.105;0.14	T	0.31081	-0.9956	10	0.33141	T	0.24	.	11.6875	0.51494	0.0:0.8461:0.0:0.1539	.	562;941;346	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	M	346;345;220;942;562;580;565	ENSP00000399423:V346M;ENSP00000386491:V345M;ENSP00000402944:V220M;ENSP00000345193:V942M;ENSP00000394536:V562M;ENSP00000294018:V565M	ENSP00000294018:V565M	V	-	1	0	SHANK2	70011225	0.279000	0.24239	0.996000	0.52242	0.942000	0.58702	0.797000	0.26999	2.168000	0.68352	0.655000	0.94253	GTG		0.592	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		23	88	0	0	0	1	0	23	88				
TNNI3K	51086	broad.mit.edu	37	1	75009657	75009657	+	Missense_Mutation	SNP	C	C	G			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr1:75009657C>G	ENST00000326637.3	+	25	2550	c.2499C>G	c.(2497-2499)gaC>gaG	p.D833E	TNNI3K_ENST00000370891.2_Missense_Mutation_p.D934E|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.D947E|TNNI3K_ENST00000465473.1_3'UTR	NM_015978.2	NP_057062.1			TNNI3 interacting kinase											cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						GCTTTGAGGACAGCAGCTGAC	0.448																																						ENST00000370891.2																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						c.(2800-2802)gaC>gaG		TNNI3 interacting kinase							118.0	100.0	106.0					1																	75009657		2203	4300	6503	SO:0001583	missense	51086							g.chr1:75009657C>G	AF116826	CCDS664.1, CCDS44161.1	1p31.1	2014-09-17				ENSG00000116783			19661	protein-coding gene	gene with protein product		613932				12721663	Standard	NM_015978		Approved	CARK		Q59H18	OTTHUMG00000171318	ENST00000326637.3:c.2499C>G	1.37:g.75009657C>G	ENSP00000322251:p.Asp833Glu					TNNI3K_ENST00000465473.1_3'UTR|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.D934E|TNNI3K_ENST00000326637.3_Missense_Mutation_p.D833E	p.D934E	NM_001112808.2	NP_001106279.1					27	2818	+									Missense_Mutation	SNP	ENST00000326637.3	37	c.2802C>G	CCDS664.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.234294	0.79688	.	.	ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000557284;ENST00000370891;ENST00000326637	T;T;T	0.74947	-0.89;-0.89;-0.85	5.32	4.35	0.52113	.	0.000000	0.85682	D	0.000000	T	0.71126	0.3303	L	0.34521	1.04	0.36590	D	0.874055	D;D	0.61697	0.984;0.99	D;D	0.72625	0.952;0.978	T	0.77059	-0.2728	10	0.87932	D	0	.	11.0869	0.48093	0.0:0.9069:0.0:0.0931	.	833;934	Q59H18;Q59H18-1	TNI3K_HUMAN;.	E	934;934;833	ENSP00000450895:D934E;ENSP00000359928:D934E;ENSP00000322251:D833E	ENSP00000322251:D833E	D	+	3	2	RP11-653A5.2;AC093158.1	74782245	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	1.184000	0.32053	1.266000	0.44231	0.561000	0.74099	GAC		0.448	TNNI3K-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026432.1	NM_015978		4	24	0	0	0	1	0	4	24				
OR6K2	81448	broad.mit.edu	37	1	158669950	158669950	+	Missense_Mutation	SNP	G	G	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr1:158669950G>T	ENST00000359610.2	-	1	536	c.493C>A	c.(493-495)Ctg>Atg	p.L165M		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L165M(2)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					CAAAATGGCAGTGTAGAGATC	0.488																																						ENST00000359610.2																			2	Substitution - Missense(2)	p.L165M(2)	lung(2)	breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46						c.(493-495)Ctg>Atg		olfactory receptor, family 6, subfamily K, member 2							119.0	105.0	110.0					1																	158669950		2203	4300	6503	SO:0001583	missense	81448				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158669950G>T	BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"""GPCR / Class A : Olfactory receptors"""	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.493C>A	1.37:g.158669950G>T	ENSP00000352626:p.Leu165Met						p.L165M	NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN			1	536	-	all_hematologic(112;0.0378)		165					B9EH33|Q6IFR6	Missense_Mutation	SNP	ENST00000359610.2	37	c.493C>A	CCDS30902.1	.	.	.	.	.	.	.	.	.	.	G	12.21	1.871061	0.33069	.	.	ENSG00000196171	ENST00000359610	T	0.00293	8.26	5.08	2.23	0.28157	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32918	N	0.005485	T	0.00241	0.0007	M	0.87971	2.92	0.09310	N	0.99999	D	0.71674	0.998	D	0.66084	0.941	T	0.44050	-0.9353	10	0.41790	T	0.15	-4.1373	6.0866	0.19970	0.2356:0.137:0.6274:0.0	.	165	Q8NGY2	OR6K2_HUMAN	M	165	ENSP00000352626:L165M	ENSP00000352626:L165M	L	-	1	2	OR6K2	156936574	0.008000	0.16893	0.922000	0.36590	0.825000	0.46686	0.384000	0.20668	0.318000	0.23185	-0.145000	0.13849	CTG		0.488	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279		19	28	1	0	2.35188e-11	1	2.83382e-11	19	28				
CCDC87	55231	broad.mit.edu	37	11	66358941	66358941	+	Missense_Mutation	SNP	C	C	T	rs376754440		TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr11:66358941C>T	ENST00000333861.3	-	1	1613	c.1546G>A	c.(1546-1548)Gag>Aag	p.E516K	CCS_ENST00000310190.4_5'Flank|CCS_ENST00000533244.1_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	516					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCTGCAGGCTCAACTAGGGGC	0.463																																						ENST00000333861.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(1546-1548)Gag>Aag		coiled-coil domain containing 87							88.0	89.0	89.0					11																	66358941		2200	4295	6495	SO:0001583	missense	55231							g.chr11:66358941C>T	BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.1546G>A	11.37:g.66358941C>T	ENSP00000328487:p.Glu516Lys						p.E516K	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN			1	1613	-			516					Q8NE76	Missense_Mutation	SNP	ENST00000333861.3	37	c.1546G>A	CCDS8145.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.088530	0.55968	.	.	ENSG00000182791	ENST00000333861	T	0.47528	0.84	5.3	5.3	0.74995	.	0.000000	0.44285	D	0.000469	T	0.68586	0.3017	M	0.77616	2.38	0.44309	D	0.997182	D	0.89917	1.0	D	0.80764	0.994	T	0.71227	-0.4655	10	0.66056	D	0.02	.	14.3222	0.66493	0.0:1.0:0.0:0.0	.	516	Q9NVE4	CCD87_HUMAN	K	516	ENSP00000328487:E516K	ENSP00000328487:E516K	E	-	1	0	CCDC87	66115517	0.993000	0.37304	0.894000	0.35097	0.092000	0.18411	3.972000	0.56838	2.756000	0.94617	0.563000	0.77884	GAG		0.463	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393825.1	NM_018219		38	141	0	0	0	1	0	38	141				
CRB1	23418	broad.mit.edu	37	1	197390396	197390396	+	Missense_Mutation	SNP	T	T	A	rs62636264		TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr1:197390396T>A	ENST00000367400.3	+	6	1573	c.1438T>A	c.(1438-1440)Tgt>Agt	p.C480S	CRB1_ENST00000367397.1_De_novo_Start_OutOfFrame|CRB1_ENST00000535699.1_Missense_Mutation_p.C411S|CRB1_ENST00000544212.1_De_novo_Start_OutOfFrame|CRB1_ENST00000538660.1_Missense_Mutation_p.C480S|CRB1_ENST00000367399.2_Missense_Mutation_p.C368S|CRB1_ENST00000543483.1_Missense_Mutation_p.C179S|CRB1_ENST00000476483.1_3'UTR	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	480	EGF-like 11. {ECO:0000255|PROSITE- ProRule:PRU00076}.		C -> G (in LCA8). {ECO:0000269|PubMed:11231775}.|C -> R (in LCA8). {ECO:0000269|PubMed:11231775, ECO:0000269|PubMed:16205573}.		cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CGGGTCCCTGTGTGAAATCGC	0.502																																						ENST00000367397.1																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132	GRCh37	CM010800|CM010801	CRB1	M	rs62636264			crumbs homolog 1 (Drosophila)							103.0	90.0	94.0					1																	197390396		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197390396T>A		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.1438T>A	1.37:g.197390396T>A	ENSP00000356370:p.Cys480Ser					CRB1_ENST00000367399.2_Missense_Mutation_p.C368S|CRB1_ENST00000367400.3_Missense_Mutation_p.C480S|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000538660.1_Missense_Mutation_p.C480S|CRB1_ENST00000543483.1_Missense_Mutation_p.C179S|CRB1_ENST00000535699.1_Missense_Mutation_p.C411S|CRB1_ENST00000544212.1_De_novo_Start_OutOfFrame				P82279	CRUM1_HUMAN			0	439	+								A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Translation_Start_Site	SNP	ENST00000367400.3	37		CCDS1390.1	.	.	.	.	.	.	.	.	.	.	T	17.61	3.432933	0.62844	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000543483;ENST00000367401	D;D;D;D;D	0.99913	-7.97;-7.97;-7.97;-7.97;-7.97	5.82	5.82	0.92795	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.99937	0.9972	H	0.94964	3.605	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;0.997;1.0;1.0	D;D;D;D;D	0.91635	0.997;0.998;0.995;0.999;0.996	D	0.95812	0.8842	9	0.87932	D	0	.	16.188	0.81967	0.0:0.0:0.0:1.0	.	480;411;368;129;480	B7Z5T2;F5H0L2;P82279-3;P82279-4;P82279	.;.;.;.;CRUM1_HUMAN	S	411;480;480;368;179;129	ENSP00000438786:C411S;ENSP00000438091:C480S;ENSP00000356370:C480S;ENSP00000356369:C368S;ENSP00000439579:C179S	ENSP00000356369:C368S	C	+	1	0	CRB1	195657019	1.000000	0.71417	0.966000	0.40874	0.019000	0.09904	5.894000	0.69806	2.216000	0.71823	0.528000	0.53228	TGT		0.502	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		13	35	0	0	0	1	0	13	35				
ST5	6764	broad.mit.edu	37	11	8752423	8752423	+	Silent	SNP	C	C	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr11:8752423C>T	ENST00000534127.1	-	6	799	c.414G>A	c.(412-414)acG>acA	p.T138T	ST5_ENST00000526757.1_Intron|ST5_ENST00000530438.1_Intron|ST5_ENST00000357665.1_Silent_p.T138T|ST5_ENST00000313726.6_Silent_p.T138T	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	138					positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CCGGGAATGGCGTGCTCTGGG	0.677																																						ENST00000534127.1																			0				NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(412-414)acG>acA		suppression of tumorigenicity 5							35.0	43.0	40.0					11																	8752423		2201	4295	6496	SO:0001819	synonymous_variant	6764				positive regulation of ERK1 and ERK2 cascade		protein binding	g.chr11:8752423C>T	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.414G>A	11.37:g.8752423C>T						ST5_ENST00000526757.1_Intron|ST5_ENST00000530438.1_Intron|ST5_ENST00000357665.1_Silent_p.T138T|ST5_ENST00000313726.6_Silent_p.T138T	p.T138T	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	6	799	-			138					B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Silent	SNP	ENST00000534127.1	37	c.414G>A	CCDS7791.1																																																																																				0.677	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418		10	87	0	0	0	1	0	10	87				
SCRIB	23513	broad.mit.edu	37	8	144874944	144874944	+	Missense_Mutation	SNP	C	C	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr8:144874944C>T	ENST00000320476.3	-	30	4117	c.4111G>A	c.(4111-4113)Gag>Aag	p.E1371K	SCRIB_ENST00000377533.3_Missense_Mutation_p.E1290K|RP11-429J17.8_ENST00000527139.1_RNA|RP11-429J17.8_ENST00000532625.1_RNA|RP11-429J17.8_ENST00000534089.1_RNA|SCRIB_ENST00000356994.2_Missense_Mutation_p.E1371K|SCRIB_ENST00000546337.1_5'UTR	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1371					activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	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;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GGGGGGCCCTCGGCCTGGGGC	0.706																																					Pancreas(51;966 1133 10533 14576 29674)	ENST00000356994.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42						c.(4111-4113)Gag>Aag		scribbled planar cell polarity protein							18.0	17.0	18.0					8																	144874944		2199	4290	6489	SO:0001583	missense	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144874944C>T	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.4111G>A	8.37:g.144874944C>T	ENSP00000322938:p.Glu1371Lys					SCRIB_ENST00000320476.3_Missense_Mutation_p.E1371K|SCRIB_ENST00000377533.3_Missense_Mutation_p.E1290K|SCRIB_ENST00000546337.1_5'UTR	p.E1371K	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		30	4117	-	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)		1371					Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	37	c.4111G>A	CCDS6411.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.92|11.92	1.783966|1.783966	0.31593|0.31593	.|.	.|.	ENSG00000180900|ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533;ENST00000377539|ENST00000526832	T;T;T|.	0.39056|.	1.31;1.25;1.1|.	4.71|4.71	3.83|3.83	0.44106|0.44106	.|.	.|.	.|.	.|.	.|.	T|T	0.52041|0.52041	0.1710|0.1710	L|L	0.60455|0.60455	1.87|1.87	0.30009|0.30009	N|N	0.815356|0.815356	P;P;P|.	0.48998|.	0.918;0.789;0.789|.	B;B;B|.	0.31337|.	0.119;0.128;0.128|.	T|T	0.51593|0.51593	-0.8686|-0.8686	9|5	0.36615|.	T|.	0.2|.	.|.	11.1779|11.1779	0.48610|0.48610	0.0:0.9087:0.0:0.0913|0.0:0.9087:0.0:0.0913	.|.	1371;1371;1290|.	Q14160;Q14160-3;Q14160-2|.	SCRIB_HUMAN;.;.|.	K|Q	1371;1371;1290;740|366	ENSP00000349486:E1371K;ENSP00000322938:E1371K;ENSP00000366756:E1290K|.	ENSP00000322938:E1371K|.	E|R	-|-	1|2	0|0	SCRIB|SCRIB	144946932|144946932	0.984000|0.984000	0.35163|0.35163	0.710000|0.710000	0.30468|0.30468	0.008000|0.008000	0.06430|0.06430	3.644000|3.644000	0.54381|0.54381	0.976000|0.976000	0.38417|0.38417	0.491000|0.491000	0.48974|0.48974	GAG|CGA		0.706	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		7	13	0	0	0	1	0	7	13				
ARID2	196528	broad.mit.edu	37	12	46230632	46230632	+	Missense_Mutation	SNP	G	G	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr12:46230632G>T	ENST00000334344.6	+	8	1053	c.881G>T	c.(880-882)aGa>aTa	p.R294I	ARID2_ENST00000444670.1_5'Flank|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.R145I	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	294					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GTGATTTTGAGAAATCTTTCC	0.403			"""N, S, F"""		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"""N, S, F"""	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(880-882)aGa>aTa		AT rich interactive domain 2 (ARID, RFX-like)							170.0	164.0	166.0					12																	46230632		2203	4300	6503	SO:0001583	missense	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46230632G>T		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.881G>T	12.37:g.46230632G>T	ENSP00000335044:p.Arg294Ile					ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.R145I	p.R294I	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	8	1053	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	294					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.881G>T	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	G	32	5.168338	0.94768	.	.	ENSG00000189079	ENST00000334344;ENST00000422737	T;T	0.51071	0.72;0.72	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.70386	0.3218	M	0.72894	2.215	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.71481	-0.4580	10	0.87932	D	0	-11.1595	20.2009	0.98259	0.0:0.0:1.0:0.0	.	294	Q68CP9	ARID2_HUMAN	I	294;145	ENSP00000335044:R294I;ENSP00000415650:R145I	ENSP00000335044:R294I	R	+	2	0	ARID2	44516899	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.822000	0.99363	2.767000	0.95098	0.591000	0.81541	AGA		0.403	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		24	44	1	0	3.7963e-18	1	4.81083e-18	24	44				
ATP2A1	487	broad.mit.edu	37	16	28909674	28909674	+	Missense_Mutation	SNP	C	C	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr16:28909674C>T	ENST00000357084.3	+	14	1933	c.1666C>T	c.(1666-1668)Cgg>Tgg	p.R556W	ATP2A1_ENST00000536376.1_Missense_Mutation_p.R431W|ATP2A1_ENST00000395503.4_Missense_Mutation_p.R556W	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	556					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						GGGCACTGGCCGGGACACCCT	0.637																																						ENST00000395503.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						c.(1666-1668)Cgg>Tgg		ATPase, Ca++ transporting, cardiac muscle, fast twitch 1							46.0	52.0	50.0					16																	28909674		2197	4300	6497	SO:0001583	missense	487				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	g.chr16:28909674C>T		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.1666C>T	16.37:g.28909674C>T	ENSP00000349595:p.Arg556Trp					ATP2A1_ENST00000357084.3_Missense_Mutation_p.R556W|ATP2A1_ENST00000536376.1_Missense_Mutation_p.R431W	p.R556W	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN			14	1850	+			556					A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	ENST00000357084.3	37	c.1666C>T	CCDS10643.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.571104	0.86542	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.83335	-1.71;-1.71;-1.71	5.43	4.47	0.54385	ATPase, cation-transporting, domain N (1);ATPase, P-type, cytoplasmic domain N (1);	0.055698	0.64402	D	0.000001	D	0.90352	0.6981	M	0.91406	3.205	0.52099	D	0.999946	D;P;D	0.63880	0.993;0.936;0.985	P;P;P	0.55749	0.596;0.783;0.676	D	0.91908	0.5537	10	0.87932	D	0	.	12.4065	0.55443	0.3051:0.6949:0.0:0.0	.	431;556;556	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	W	556;556;593;431	ENSP00000349595:R556W;ENSP00000378879:R556W;ENSP00000443101:R431W	ENSP00000349595:R556W	R	+	1	2	ATP2A1	28817175	0.913000	0.31002	1.000000	0.80357	0.996000	0.88848	0.771000	0.26633	1.266000	0.44231	0.655000	0.94253	CGG		0.637	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320		20	80	0	0	0	1	0	20	80				
MARCH4	57574	broad.mit.edu	37	2	217142549	217142549	+	Missense_Mutation	SNP	C	C	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr2:217142549C>A	ENST00000273067.4	-	3	2477	c.711G>T	c.(709-711)caG>caT	p.Q237H		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	237						Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		CGGCTGCAACCTGAACCTTCT	0.577																																						ENST00000273067.4																			0				breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20						c.(709-711)caG>caT		membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase							65.0	61.0	63.0					2																	217142549		2203	4300	6503	SO:0001583	missense	57574					Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:217142549C>A	AB037820	CCDS33376.1	2q35	2013-01-09	2012-02-23		ENSG00000144583	ENSG00000144583		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	29269	protein-coding gene	gene with protein product		608208	"""membrane-associated ring finger (C3HC4) 4"""			10718198, 14722266	Standard	NM_020814		Approved	KIAA1399, MARCH-IV, RNF174	uc002vgb.3	Q9P2E8	OTTHUMG00000154824	ENST00000273067.4:c.711G>T	2.37:g.217142549C>A	ENSP00000273067:p.Gln237His						p.Q237H	NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)	3	2477	-		Renal(323;0.0854)	237					Q4KMN7|Q86WR8	Missense_Mutation	SNP	ENST00000273067.4	37	c.711G>T	CCDS33376.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.433488	0.62955	.	.	ENSG00000144583	ENST00000273067	T	0.60548	0.18	5.1	3.27	0.37495	.	0.000000	0.85682	D	0.000000	T	0.71929	0.3398	M	0.71581	2.175	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.71174	-0.4670	10	0.52906	T	0.07	-7.8852	10.9966	0.47580	0.0:0.845:0.0:0.155	.	237	Q9P2E8	MARH4_HUMAN	H	237	ENSP00000273067:Q237H	ENSP00000273067:Q237H	Q	-	3	2	MARCH4	216850794	1.000000	0.71417	1.000000	0.80357	0.620000	0.37586	4.073000	0.57570	0.541000	0.28827	-0.140000	0.14226	CAG		0.577	MARCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337272.2	NM_020814		26	36	1	0	4.87955e-14	1	6.02768e-14	26	36				
SPHKAP	80309	broad.mit.edu	37	2	228884074	228884074	+	Missense_Mutation	SNP	G	G	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr2:228884074G>T	ENST00000392056.3	-	7	1542	c.1496C>A	c.(1495-1497)gCg>gAg	p.A499E	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A499E	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	499						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ACAAGCTAACGCCACTTCTAG	0.527																																						ENST00000392056.3																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(1495-1497)gCg>gAg		SPHK1 interactor, AKAP domain containing							42.0	41.0	41.0					2																	228884074		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228884074G>T		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.1496C>A	2.37:g.228884074G>T	ENSP00000375909:p.Ala499Glu					SPHKAP_ENST00000344657.5_Missense_Mutation_p.A499E	p.A499E	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	1542	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	499					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.1496C>A	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.248818	0.80024	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.50548	0.74;0.74	6.03	5.12	0.69794	.	0.048891	0.85682	D	0.000000	T	0.67988	0.2952	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.78314	0.959;0.991	T	0.72279	-0.4340	10	0.87932	D	0	.	12.3581	0.55186	0.0847:0.0:0.9153:0.0	.	499;499	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	E	499	ENSP00000375909:A499E;ENSP00000339886:A499E	ENSP00000339886:A499E	A	-	2	0	SPHKAP	228592318	1.000000	0.71417	0.413000	0.26509	0.957000	0.61999	7.198000	0.77823	1.469000	0.48083	0.655000	0.94253	GCG		0.527	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		9	33	1	0	0.00448238	1	0.00467312	9	33				
SEC23IP	11196	broad.mit.edu	37	10	121658137	121658137	+	Missense_Mutation	SNP	C	C	G			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr10:121658137C>G	ENST00000369075.3	+	2	434	c.362C>G	c.(361-363)cCt>cGt	p.P121R	SEC23IP_ENST00000543134.1_Intron	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	121	Interaction with SEC23A.				acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		ACTGCTCTCCCTTTTACAACT	0.473																																						ENST00000369075.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36						c.(361-363)cCt>cGt		SEC23 interacting protein							165.0	140.0	149.0					10																	121658137		2203	4300	6503	SO:0001583	missense	11196				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding	g.chr10:121658137C>G	AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"""Sterile alpha motif (SAM) domain containing"""	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.362C>G	10.37:g.121658137C>G	ENSP00000358071:p.Pro121Arg					SEC23IP_ENST00000543134.1_Intron	p.P121R	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN		all cancers(201;0.00515)	2	434	+		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)	121			Interaction with SEC23A.		D3DRD2|Q8IXH5|Q9BUK5	Missense_Mutation	SNP	ENST00000369075.3	37	c.362C>G	CCDS7618.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.838771	0.32513	.	.	ENSG00000107651	ENST00000369075	D	0.96913	-4.17	5.44	4.54	0.55810	.	0.298737	0.38164	N	0.001788	D	0.94506	0.8231	M	0.61703	1.905	0.80722	D	1	B	0.29805	0.257	B	0.28553	0.091	D	0.92724	0.6194	10	0.39692	T	0.17	-5.8383	13.8324	0.63389	0.0:0.9265:0.0:0.0735	.	121	Q9Y6Y8	S23IP_HUMAN	R	121	ENSP00000358071:P121R	ENSP00000358071:P121R	P	+	2	0	SEC23IP	121648127	1.000000	0.71417	0.912000	0.35992	0.557000	0.35523	5.112000	0.64634	1.293000	0.44690	0.655000	0.94253	CCT		0.473	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1			17	61	0	0	0	1	0	17	61				
ZNF644	84146	broad.mit.edu	37	1	91405593	91405593	+	Missense_Mutation	SNP	G	G	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr1:91405593G>A	ENST00000370440.1	-	3	1535	c.1318C>T	c.(1318-1320)Cgc>Tgc	p.R440C	ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.R440C|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000347275.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	440					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(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TTAAGATGGCGAAAGTGACTA	0.418																																						ENST00000370440.1																			0				breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(1318-1320)Cgc>Tgc		zinc finger protein 644							108.0	111.0	110.0					1																	91405593		2203	4299	6502	SO:0001583	missense	84146				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:91405593G>A	AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.1318C>T	1.37:g.91405593G>A	ENSP00000359469:p.Arg440Cys					ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.R440C	p.R440C			Q9H582	ZN644_HUMAN		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	3	1535	-		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)	440					A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Missense_Mutation	SNP	ENST00000370440.1	37	c.1318C>T	CCDS731.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.034653	0.54896	.	.	ENSG00000122482	ENST00000370440;ENST00000337393;ENST00000536941	T;T	0.00627	6.12;6.12	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.02848	0.0085	M	0.84511	2.7	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.47249	-0.9132	10	0.87932	D	0	-6.4642	19.5735	0.95432	0.0:0.0:1.0:0.0	.	440	Q9H582	ZN644_HUMAN	C	440;440;12	ENSP00000359469:R440C;ENSP00000337008:R440C	ENSP00000337008:R440C	R	-	1	0	ZNF644	91178181	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.833000	0.62766	2.636000	0.89361	0.655000	0.94253	CGC		0.418	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186		11	61	0	0	0	1	0	11	61				
IVNS1ABP	10625	broad.mit.edu	37	1	185277930	185277930	+	Splice_Site	SNP	A	A	G			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr1:185277930A>G	ENST00000367498.3	-	5	980		c.e5+1		IVNS1ABP_ENST00000367497.1_Splice_Site|IVNS1ABP_ENST00000459929.1_Splice_Site|IVNS1ABP_ENST00000392007.3_Splice_Site	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein						negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription from RNA polymerase III promoter (GO:0006383)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|spliceosomal complex (GO:0005681)|transcription factor complex (GO:0005667)				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						CTGATACTCTACCTGCTTTAC	0.303																																						ENST00000367498.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						c.e5+1		influenza virus NS1A binding protein							158.0	154.0	155.0					1																	185277930		2203	4299	6502	SO:0001630	splice_region_variant	10625				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex		g.chr1:185277930A>G	AB020657	CCDS1368.1	1q25.1-q31.1	2013-01-30			ENSG00000116679	ENSG00000116679		"""Kelch-like"", ""BTB/POZ domain containing"""	16951	protein-coding gene	gene with protein product	"""kelch-like family member 39"""	609209				9696811, 10048485	Standard	NM_006469		Approved	NS1-BP, HSPC068, NS-1, KIAA0850, ND1, KLHL39	uc001grl.3	Q9Y6Y0	OTTHUMG00000035384	ENST00000367498.3:c.357+1T>C	1.37:g.185277930A>G						IVNS1ABP_ENST00000367497.1_Splice_Site|IVNS1ABP_ENST00000459929.1_Splice_Site|IVNS1ABP_ENST00000392007.3_Splice_Site		NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN			5	980	-								A8K8R6|Q1G4T6|Q1G4T7|Q5TF75|Q6NW38|Q7LCG2|Q9NZX0|Q9Y480	Splice_Site	SNP	ENST00000367498.3	37		CCDS1368.1	.	.	.	.	.	.	.	.	.	.	A	18.05	3.537295	0.65085	.	.	ENSG00000116679	ENST00000367498;ENST00000367497	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2898	0.82742	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IVNS1ABP	183544553	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.378000	0.79679	2.250000	0.74265	0.482000	0.46254	.		0.303	IVNS1ABP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085774.1	NM_006469	Intron	8	24	0	0	0	1	0	8	24				
ACACB	32	broad.mit.edu	37	12	109673453	109673453	+	Splice_Site	SNP	G	G	C			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr12:109673453G>C	ENST00000338432.7	+	33	4565		c.e33+1		ACACB_ENST00000377848.3_Splice_Site|ACACB_ENST00000377854.5_Splice_Site|ACACB_ENST00000543201.1_Splice_Site			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta						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)	AAGAGATGAGGTATGGCCAAA	0.398																																						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.e33+1		acetyl-CoA carboxylase beta	Biotin(DB00121)						120.0	113.0	116.0					12																	109673453		2203	4300	6503	SO:0001630	splice_region_variant	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.chr12:109673453G>C	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.4446+1G>C	12.37:g.109673453G>C						ACACB_ENST00000377848.3_Splice_Site|ACACB_ENST00000543201.1_Splice_Site|ACACB_ENST00000377854.5_Splice_Site				O00763	ACACB_HUMAN			33	4565	+								A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Splice_Site	SNP	ENST00000338432.7	37		CCDS31898.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.938240	0.73557	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027;ENST00000543201	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2752	0.90080	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ACACB	108157836	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.746000	0.98859	2.499000	0.84300	0.609000	0.83330	.		0.398	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093	Intron	3	11	0	0	0	1	0	3	11				
MT3	4504	broad.mit.edu	37	16	56623531	56623531	+	Missense_Mutation	SNP	C	C	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr16:56623531C>T	ENST00000200691.4	+	1	252	c.29C>T	c.(28-30)tCt>tTt	p.S10F	MT3_ENST00000570176.1_Missense_Mutation_p.S10F|MT3_ENST00000566576.1_3'UTR|MT3_ENST00000565838.1_Intron|MT3_ENST00000561640.1_Missense_Mutation_p.S55F	NM_005954.2	NP_005945.1	P25713	MT3_HUMAN	metallothionein 3	10	Beta.				activation of protein kinase B activity (GO:0032148)|astrocyte development (GO:0014002)|cadmium ion homeostasis (GO:0055073)|cell proliferation (GO:0008283)|cellular lipid catabolic process (GO:0044242)|cellular metal ion homeostasis (GO:0006875)|cellular response to cadmium ion (GO:0071276)|cellular response to drug (GO:0035690)|cellular response to hypoxia (GO:0071456)|cellular response to nitric oxide (GO:0071732)|cellular response to oxidative stress (GO:0034599)|cellular zinc ion homeostasis (GO:0006882)|cholesterol catabolic process (GO:0006707)|energy reserve metabolic process (GO:0006112)|ERK1 and ERK2 cascade (GO:0070371)|histone modification (GO:0016570)|leptin-mediated signaling pathway (GO:0033210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of axon extension (GO:0030517)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of necrotic cell death (GO:0060547)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell death (GO:0010942)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of lysosomal membrane permeability (GO:0097214)|positive regulation of necrotic cell death (GO:0010940)|positive regulation of oxygen metabolic process (GO:2000376)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of protein glycosylation (GO:0060049)|regulation of response to food (GO:0032095)|removal of superoxide radicals (GO:0019430)|response to hypoxia (GO:0001666)|zinc ion homeostasis (GO:0055069)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|inclusion body (GO:0016234)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	antioxidant activity (GO:0016209)|cadmium ion binding (GO:0046870)|copper ion binding (GO:0005507)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|drug binding (GO:0008144)|protein kinase activator activity (GO:0030295)|zinc ion binding (GO:0008270)			central_nervous_system(1)|large_intestine(1)	2						CCCTGCCCTTCTGGTGAGCCC	0.662																																						ENST00000570176.1																			0				central_nervous_system(1)|large_intestine(1)	2						c.(28-30)tCt>tTt		metallothionein 3							56.0	53.0	54.0					16																	56623531		2198	4300	6498	SO:0001583	missense	4504				cell proliferation|cellular metal ion homeostasis|removal of superoxide radicals|response to hypoxia	synaptic vesicle	antioxidant activity|copper ion binding|zinc ion binding	g.chr16:56623531C>T	BC035624	CCDS10762.1	16q13	2008-02-05	2007-01-26		ENSG00000087250	ENSG00000087250		"""Metallothioneins"""	7408	protein-coding gene	gene with protein product		139255	"""metallothionein 3 (growth inhibitory factor (neurotrophic))"""			1631128	Standard	NM_005954		Approved	GIF	uc002ejf.3	P25713	OTTHUMG00000133282	ENST00000200691.4:c.29C>T	16.37:g.56623531C>T	ENSP00000200691:p.Ser10Phe					MT3_ENST00000566576.1_3'UTR|MT3_ENST00000200691.4_Missense_Mutation_p.S10F|MT3_ENST00000565838.1_Intron|MT3_ENST00000561640.1_Missense_Mutation_p.S55F	p.S10F			P25713	MT3_HUMAN			1	80	+			10			Beta.		Q2V574	Missense_Mutation	SNP	ENST00000200691.4	37	c.29C>T	CCDS10762.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.304762	0.23736	.	.	ENSG00000087250	ENST00000200691	T	0.10192	2.9	4.07	3.12	0.35913	Metallothionein domain, vertebrate (1);Metallothionein domain (1);	0.455403	0.22144	N	0.064012	T	0.08492	0.0211	.	.	.	0.25730	N	0.985272	B	0.02656	0.0	B	0.04013	0.001	T	0.20605	-1.0270	9	0.87932	D	0	-13.1207	7.7753	0.29033	0.0:0.8874:0.0:0.1126	.	10	P25713	MT3_HUMAN	F	10	ENSP00000200691:S10F	ENSP00000200691:S10F	S	+	2	0	MT3	55181032	0.999000	0.42202	0.995000	0.50966	0.735000	0.41995	3.002000	0.49496	1.310000	0.45006	-0.225000	0.12378	TCT		0.662	MT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257062.2	NM_005954		18	59	0	0	0	1	0	18	59				
MTOR	2475	broad.mit.edu	37	1	11199700	11199700	+	Missense_Mutation	SNP	C	C	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr1:11199700C>T	ENST00000361445.4	-	35	4964	c.4888G>A	c.(4888-4890)Gta>Ata	p.V1630I	MTOR_ENST00000495435.1_5'UTR	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1630	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	CAGTCCTCTACGATACGCTGG	0.507																																						ENST00000361445.4																			0				breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						c.(4888-4890)Gta>Ata		mechanistic target of rapamycin (serine/threonine kinase)							108.0	106.0	106.0					1																	11199700		2203	4300	6503	SO:0001583	missense	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11199700C>T	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.4888G>A	1.37:g.11199700C>T	ENSP00000354558:p.Val1630Ile					MTOR_ENST00000495435.1_5'UTR	p.V1630I	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN			35	4964	-			1630			FAT.		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.4888G>A	CCDS127.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.094510	0.76870	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.72394	-0.65	5.75	5.75	0.90469	PIK-related kinase (1);PIK-related kinase, FAT (1);Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	D	0.85517	0.5715	M	0.83312	2.635	0.80722	D	1	D	0.59357	0.985	D	0.65874	0.939	D	0.85967	0.1474	10	0.56958	D	0.05	-9.694	19.9598	0.97242	0.0:1.0:0.0:0.0	.	1630	P42345	MTOR_HUMAN	I	1630	ENSP00000354558:V1630I	ENSP00000354558:V1630I	V	-	1	0	MTOR	11122287	1.000000	0.71417	0.966000	0.40874	0.985000	0.73830	7.348000	0.79366	2.716000	0.92895	0.655000	0.94253	GTA		0.507	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		31	128	0	0	0	1	0	31	128				
DOPEY1	23033	broad.mit.edu	37	6	83848195	83848195	+	Missense_Mutation	SNP	T	T	G			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr6:83848195T>G	ENST00000349129.2	+	21	4694	c.4434T>G	c.(4432-4434)gaT>gaG	p.D1478E	DOPEY1_ENST00000237163.5_Missense_Mutation_p.D1459E|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Missense_Mutation_p.D1469E	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1478					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		CTGCACAAGATTTAATAGGCA	0.383																																						ENST00000349129.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67						c.(4432-4434)gaT>gaG		dopey family member 1							89.0	94.0	93.0					6																	83848195		2203	4299	6502	SO:0001583	missense	23033				protein transport			g.chr6:83848195T>G	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.4434T>G	6.37:g.83848195T>G	ENSP00000195654:p.Asp1478Glu					DOPEY1_ENST00000237163.5_Missense_Mutation_p.D1459E|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Missense_Mutation_p.D1469E	p.D1478E	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	21	4694	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	1478					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	c.4434T>G	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	T	9.242	1.038602	0.19669	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.42131	0.98;0.98	5.91	-2.18	0.07037	.	0.000000	0.85682	D	0.000000	T	0.37128	0.0992	L	0.44542	1.39	0.80722	D	1	D;D;D	0.65815	0.995;0.994;0.994	D;D;D	0.74674	0.984;0.978;0.978	T	0.31752	-0.9932	10	0.30078	T	0.28	.	13.6185	0.62123	0.0:0.57:0.0:0.43	.	1369;1469;1478	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	E	1478;1459;1459	ENSP00000195654:D1478E;ENSP00000237163:D1459E	ENSP00000237163:D1459E	D	+	3	2	DOPEY1	83904914	0.951000	0.32395	0.991000	0.47740	0.175000	0.22909	0.059000	0.14322	-0.291000	0.09012	-0.256000	0.11100	GAT		0.383	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		14	32	0	0	0	1	0	14	32				
IFT122	55764	broad.mit.edu	37	3	129233302	129233302	+	Missense_Mutation	SNP	G	G	C			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr3:129233302G>C	ENST00000348417.2	+	25	3135	c.3058G>C	c.(3058-3060)Gac>Cac	p.D1020H	IFT122_ENST00000347300.2_Missense_Mutation_p.D961H|IFT122_ENST00000440957.2_Missense_Mutation_p.D811H|IFT122_ENST00000504021.1_Missense_Mutation_p.D897H|IFT122_ENST00000507564.1_Missense_Mutation_p.D1013H|IFT122_ENST00000296266.3_Missense_Mutation_p.D1071H|IFT122_ENST00000431818.2_Missense_Mutation_p.D870H|IFT122_ENST00000349441.2_Missense_Mutation_p.D910H	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	1020					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						GCACGCCTATGACAAGCTGCG	0.592																																						ENST00000296266.3																			0				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(3211-3213)Gac>Cac		intraflagellar transport 122 homolog (Chlamydomonas)							92.0	76.0	82.0					3																	129233302		2203	4300	6503	SO:0001583	missense	55764				camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		g.chr3:129233302G>C	AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	13556	protein-coding gene	gene with protein product		606045	"""WD repeat domain 10"", ""intraflagellar transport 122 homolog (Chlamydomonas)"""	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.3058G>C	3.37:g.129233302G>C	ENSP00000324005:p.Asp1020His					IFT122_ENST00000347300.2_Missense_Mutation_p.D961H|IFT122_ENST00000440957.2_Missense_Mutation_p.D811H|IFT122_ENST00000431818.2_Missense_Mutation_p.D870H|IFT122_ENST00000348417.2_Missense_Mutation_p.D1020H|IFT122_ENST00000504021.1_Missense_Mutation_p.D897H|IFT122_ENST00000507564.1_Missense_Mutation_p.D1013H|IFT122_ENST00000349441.2_Missense_Mutation_p.D910H	p.D1071H	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN			26	3403	+			1020					B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Missense_Mutation	SNP	ENST00000348417.2	37	c.3211G>C	CCDS3061.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.3|23.3	4.401549|4.401549	0.83120|0.83120	.|.	.|.	ENSG00000163913|ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000431818;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957|ENST00000454840	T;T;T;T;T;T;T;T|.	0.63744|.	0.58;-0.06;0.07;0.13;0.67;0.72;0.58;0.15|.	5.32|5.32	4.45|4.45	0.53987|0.53987	.|.	0.107907|.	0.64402|.	D|.	0.000005|.	T|.	0.72985|.	0.3529|.	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	P;D;P;D;P;P;P;P;B;P|.	0.56968|.	0.573;0.968;0.624;0.978;0.909;0.909;0.909;0.827;0.177;0.741|.	B;P;B;P;P;P;P;P;B;P|.	0.60117|.	0.344;0.869;0.347;0.854;0.603;0.548;0.548;0.736;0.186;0.621|.	T|.	0.73620|.	-0.3925|.	10|.	0.87932|.	D|.	0|.	-26.0821|-26.0821	13.9878|13.9878	0.64345|0.64345	0.0729:0.0:0.9271:0.0|0.0729:0.0:0.9271:0.0	.|.	811;346;1013;408;897;862;910;961;1020;1071|.	E9PDG2;B3KUD1;E7EQF4;B3KT43;B4DEY9;B4DPW7;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1|.	.;.;.;.;.;.;.;.;IF122_HUMAN;.|.	H|S	961;1071;1013;870;897;910;1020;862;811|962	ENSP00000323973:D961H;ENSP00000296266:D1071H;ENSP00000425536:D1013H;ENSP00000410946:D870H;ENSP00000422179:D897H;ENSP00000324165:D910H;ENSP00000324005:D1020H;ENSP00000401569:D811H|.	ENSP00000296266:D1071H|.	D|X	+|+	1|2	0|2	IFT122|IFT122	130715992|130715992	1.000000|1.000000	0.71417|0.71417	0.957000|0.957000	0.39632|0.39632	0.965000|0.965000	0.64279|0.64279	6.477000|6.477000	0.73591|0.73591	1.256000|1.256000	0.44068|0.44068	0.561000|0.561000	0.74099|0.74099	GAC|TGA		0.592	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262		17	83	0	0	0	1	0	17	83				
ADD2	119	broad.mit.edu	37	2	70904981	70904981	+	Missense_Mutation	SNP	G	G	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr2:70904981G>T	ENST00000264436.4	-	12	1856	c.1412C>A	c.(1411-1413)tCc>tAc	p.S471Y	ADD2_ENST00000355733.3_Missense_Mutation_p.S471Y|ADD2_ENST00000407644.2_Missense_Mutation_p.S471Y|ADD2_ENST00000430656.1_Missense_Mutation_p.S487Y|ADD2_ENST00000413157.2_Missense_Mutation_p.S471Y	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	471					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						GCCACTGCTGGATTTCTCCAC	0.547																																						ENST00000264436.3																			0				autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						c.(1411-1413)tCc>tAc		adducin 2 (beta)							126.0	104.0	111.0					2																	70904981		2203	4300	6503	SO:0001583	missense	119				actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding	g.chr2:70904981G>T	X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.1412C>A	2.37:g.70904981G>T	ENSP00000264436:p.Ser471Tyr					ADD2_ENST00000355733.3_Missense_Mutation_p.S471Y|ADD2_ENST00000413157.2_Missense_Mutation_p.S471Y|ADD2_ENST00000407644.2_Missense_Mutation_p.S471Y|ADD2_ENST00000430656.1_Missense_Mutation_p.S487Y	p.S471Y	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN			12	1856	-			471					A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	ENST00000264436.4	37	c.1412C>A	CCDS1906.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.848518	0.51164	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000355733;ENST00000356565;ENST00000413157;ENST00000430656	T;T;T;T;T	0.20881	2.04;2.04;2.04;2.04;2.04	5.4	4.52	0.55395	.	0.255042	0.39687	N	0.001288	T	0.28532	0.0706	L	0.34521	1.04	0.37960	D	0.932958	B;P;B;B;D	0.56287	0.28;0.658;0.084;0.004;0.975	B;P;B;B;P	0.56514	0.129;0.476;0.058;0.012;0.8	T	0.14062	-1.0486	10	0.66056	D	0.02	-25.1072	12.1082	0.53823	0.0828:0.0:0.9172:0.0	.	487;471;471;471;471	B4DM17;P35612-4;Q05DK5;P35612;P35612-3	.;.;.;ADDB_HUMAN;.	Y	471;471;471;471;471;487	ENSP00000264436:S471Y;ENSP00000384677:S471Y;ENSP00000347972:S471Y;ENSP00000388072:S471Y;ENSP00000398112:S487Y	ENSP00000264436:S471Y	S	-	2	0	ADD2	70758489	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.700000	0.54786	1.513000	0.48852	0.655000	0.94253	TCC		0.547	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617		15	44	1	0	7.93312e-07	1	9.11069e-07	15	44				
YEATS2	55689	broad.mit.edu	37	3	183474440	183474440	+	Silent	SNP	G	G	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr3:183474440G>A	ENST00000305135.5	+	12	1710	c.1515G>A	c.(1513-1515)caG>caA	p.Q505Q		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	505					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TGGACAAGCAGCCGGGGCAGG	0.458																																						ENST00000305135.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49						c.(1513-1515)caG>caA		YEATS domain containing 2							64.0	70.0	68.0					3																	183474440		1915	4140	6055	SO:0001819	synonymous_variant	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183474440G>A	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.1515G>A	3.37:g.183474440G>A							p.Q505Q	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		12	1710	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		505					A7E2B9|D3DNS9|Q641P6|Q9NW96	Silent	SNP	ENST00000305135.5	37	c.1515G>A	CCDS43175.1																																																																																				0.458	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		43	50	0	0	0	1	0	43	50				
PCLO	27445	broad.mit.edu	37	7	82584358	82584358	+	Missense_Mutation	SNP	C	C	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr7:82584358C>T	ENST00000333891.9	-	5	6248	c.5911G>A	c.(5911-5913)Ggc>Agc	p.G1971S	PCLO_ENST00000423517.2_Missense_Mutation_p.G1971S	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						AGCAGACTGCCATCTACCGAT	0.363																																						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.(5911-5913)Ggc>Agc		piccolo presynaptic cytomatrix protein							109.0	111.0	111.0					7																	82584358		1873	4096	5969	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.chr7:82584358C>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.5911G>A	7.37:g.82584358C>T	ENSP00000334319:p.Gly1971Ser					PCLO_ENST00000333891.8_Missense_Mutation_p.G1971S	p.G1971S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			5	6248	-			1902						Missense_Mutation	SNP	ENST00000333891.9	37	c.5911G>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	1.364	-0.588049	0.03799	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.15603	2.41;2.41	5.57	-0.148	0.13424	.	.	.	.	.	T	0.14614	0.0353	L	0.47716	1.5	0.09310	N	1	B;B	0.15473	0.003;0.013	B;B	0.09377	0.004;0.004	T	0.27088	-1.0084	9	0.87932	D	0	.	7.504	0.27534	0.1127:0.5449:0.0:0.3423	.	1971;1971	Q9Y6V0-5;Q9Y6V0-6	.;.	S	1902;1971;1971	ENSP00000334319:G1971S;ENSP00000388393:G1971S	ENSP00000334319:G1971S	G	-	1	0	PCLO	82422294	0.030000	0.19436	0.022000	0.16811	0.315000	0.28087	0.163000	0.16520	0.029000	0.15352	0.655000	0.94253	GGC		0.363	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		10	35	0	0	0	1	0	10	35				
RPA4	29935	broad.mit.edu	37	X	96139795	96139795	+	Silent	SNP	C	C	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chrX:96139795C>A	ENST00000373040.3	+	1	889	c.486C>A	c.(484-486)gtC>gtA	p.V162V	DIAPH2_ENST00000355827.4_Intron|DIAPH2_ENST00000373049.4_Intron|DIAPH2_ENST00000373061.3_Intron|DIAPH2_ENST00000324765.8_Intron|DIAPH2_ENST00000373054.4_Intron	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN	replication protein A4, 30kDa	162					DNA damage checkpoint (GO:0000077)|DNA recombination (GO:0006310)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)	DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						TGGAAACGGTCAATGCACACA	0.463								Other identified genes with known or suspected DNA repair function																														ENST00000373040.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						c.(484-486)gtC>gtA	Other identified genes with known or suspected DNA repair function	replication protein A4, 30kDa							139.0	111.0	121.0					X																	96139795		2203	4300	6503	SO:0001819	synonymous_variant	29935				DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding	g.chrX:96139795C>A	U24186	CCDS35345.1	Xq21	2010-04-09	2010-04-09		ENSG00000204086	ENSG00000204086			30305	protein-coding gene	gene with protein product		300767	"""replication protein A4, 34kDa"""			7760808	Standard	NM_013347		Approved	HSU24186	uc004efv.4	Q13156	OTTHUMG00000021987	ENST00000373040.3:c.486C>A	X.37:g.96139795C>A						DIAPH2_ENST00000373049.4_Intron|DIAPH2_ENST00000373054.4_Intron|DIAPH2_ENST00000324765.8_Intron|DIAPH2_ENST00000373061.3_Intron|DIAPH2_ENST00000355827.4_Intron	p.V162V	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN			1	889	+			162					Q3SY03	Silent	SNP	ENST00000373040.3	37	c.486C>A	CCDS35345.1																																																																																				0.463	RPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057464.1	NM_013347		17	78	1	0	8.60227e-14	1	1.04507e-13	17	78				
ATP2C2	9914	broad.mit.edu	37	16	84488474	84488474	+	Silent	SNP	C	C	T	rs200064791		TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr16:84488474C>T	ENST00000262429.4	+	21	2120	c.2031C>T	c.(2029-2031)aaC>aaT	p.N677N	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000416219.2_Silent_p.N677N	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	677					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						ATGGGGTGAACGACGCAGTGG	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		18308	0.0		0.001	False		,,,				2504	0.0					ENST00000416219.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						c.(2029-2031)aaC>aaT		ATPase, Ca++ transporting, type 2C, member 2		C		0,4312		0,0,2156	74.0	80.0	78.0		2031	-4.4	0.6	16		78	7,8497		0,7,4245	no	coding-synonymous	ATP2C2	NM_014861.2		0,7,6401	TT,TC,CC		0.0823,0.0,0.0546		677/947	84488474	7,12809	2156	4252	6408	SO:0001819	synonymous_variant	9914				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr16:84488474C>T	AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"""ATPases / P-type"""	29103	protein-coding gene	gene with protein product	"""secretory pathway calcium ATPase 2"""	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.2031C>T	16.37:g.84488474C>T						ATP2C2_ENST00000262429.4_Silent_p.N677N|ATP2C2_ENST00000420010.2_3'UTR	p.N677N			O75185	AT2C2_HUMAN			21	2120	+			677					B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Silent	SNP	ENST00000262429.4	37	c.2031C>T	CCDS42207.1																																																																																				0.607	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	NM_014861		5	48	0	0	0	1	0	5	48				
OR4N5	390437	broad.mit.edu	37	14	20612591	20612591	+	Nonsense_Mutation	SNP	A	A	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr14:20612591A>T	ENST00000333629.1	+	1	697	c.697A>T	c.(697-699)Aag>Tag	p.K233*	RNA5SP381_ENST00000516076.1_RNA	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		CTCTGAAGGAAAGAGCAAGGC	0.502																																						ENST00000333629.1																			0				endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29						c.(697-699)Aag>Tag		olfactory receptor, family 4, subfamily N, member 5							145.0	145.0	145.0					14																	20612591		2203	4300	6503	SO:0001587	stop_gained	390437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20612591A>T		CCDS32031.1	14q11.2	2013-09-23			ENSG00000184394	ENSG00000184394		"""GPCR / Class A : Olfactory receptors"""	15358	protein-coding gene	gene with protein product							Standard	NM_001004724		Approved		uc010tla.2	Q8IXE1	OTTHUMG00000170784	ENST00000333629.1:c.697A>T	14.37:g.20612591A>T	ENSP00000332110:p.Lys233*						p.K233*	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)	1	697	+	all_cancers(95;0.00108)		233					Q6IF11	Nonsense_Mutation	SNP	ENST00000333629.1	37	c.697A>T	CCDS32031.1	.	.	.	.	.	.	.	.	.	.	A	14.24	2.477699	0.44044	.	.	ENSG00000184394	ENST00000333629	.	.	.	3.88	2.75	0.32379	.	0.146929	0.31427	N	0.007668	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	7.1823	0.25780	0.887:0.0:0.1129:0.0	.	.	.	.	X	233	.	ENSP00000332110:K233X	K	+	1	0	OR4N5	19682431	0.000000	0.05858	0.779000	0.31741	0.434000	0.31775	0.319000	0.19522	1.753000	0.51906	0.533000	0.62120	AAG		0.502	OR4N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410347.1			48	85	0	0	0	1	0	48	85				
C6orf165	154313	broad.mit.edu	37	6	88140792	88140792	+	Missense_Mutation	SNP	C	C	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr6:88140792C>T	ENST00000507897.1	+	10	1284	c.1201C>T	c.(1201-1203)Ctt>Ttt	p.L401F	C6ORF165_ENST00000369562.4_Missense_Mutation_p.L401F			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	401										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		ACTAGAATGGCTTTTCCCAGA	0.353																																						ENST00000507897.1																			0				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1201-1203)Ctt>Ttt		chromosome 6 open reading frame 165							84.0	79.0	81.0					6																	88140792		2203	4300	6503	SO:0001583	missense	154313							g.chr6:88140792C>T	BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.1201C>T	6.37:g.88140792C>T	ENSP00000426769:p.Leu401Phe					C6ORF165_ENST00000369562.4_Missense_Mutation_p.L401F	p.L401F			Q8IYR0	CF165_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0419)	10	1284	+		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	401					A8K969|E1P507|Q8N9U4	Missense_Mutation	SNP	ENST00000507897.1	37	c.1201C>T	CCDS34498.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.395912	0.42512	.	.	ENSG00000213204	ENST00000369562	T	0.37752	1.18	5.51	3.59	0.41128	.	0.303297	0.37136	N	0.002234	T	0.15219	0.0367	L	0.45581	1.43	0.47214	D	0.999359	B	0.26120	0.142	B	0.31686	0.134	T	0.05257	-1.0896	10	0.34782	T	0.22	.	5.7974	0.18394	0.1535:0.679:0.0:0.1675	.	401	Q8IYR0	CF165_HUMAN	F	401	ENSP00000358575:L401F	ENSP00000358575:L401F	L	+	1	0	C6orf165	88197511	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.095000	0.30964	1.243000	0.43853	0.591000	0.81541	CTT		0.353	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000470406.1	NM_178823		3	22	0	0	0	1	0	3	22				
CST1	1469	broad.mit.edu	37	20	23731298	23731298	+	Missense_Mutation	SNP	C	C	T	rs3188305		TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr20:23731298C>T	ENST00000304749.2	-	1	276	c.206G>A	c.(205-207)cGg>cAg	p.R69Q	CST1_ENST00000398402.1_Missense_Mutation_p.R69Q	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	69					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)	extracellular space (GO:0005615)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					TCTTAGTACCCGCAGCGGACG	0.572																																						ENST00000304749.2																			0				kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(205-207)cGg>cAg		cystatin SN							134.0	109.0	117.0					20																	23731298		2203	4300	6503	SO:0001583	missense	1469					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23731298C>T	M19169	CCDS13160.1	20p11.2	2008-04-15			ENSG00000170373	ENSG00000170373			2473	protein-coding gene	gene with protein product		123855					Standard	NM_001898		Approved		uc002wtp.3	P01037	OTTHUMG00000032085	ENST00000304749.2:c.206G>A	20.37:g.23731298C>T	ENSP00000305731:p.Arg69Gln					CST1_ENST00000398402.1_Missense_Mutation_p.R69Q	p.R69Q	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN			1	276	-	Lung NSC(19;0.0676)|all_lung(19;0.148)		69					Q96LE6|Q9UCQ6	Missense_Mutation	SNP	ENST00000304749.2	37	c.206G>A	CCDS13160.1	.	.	.	.	.	.	.	.	.	.	C	3.308	-0.141331	0.06669	.	.	ENSG00000170373	ENST00000304749;ENST00000398402	T;T	0.26957	1.7;1.7	1.61	0.543	0.17179	Proteinase inhibitor I25, cystatin (2);	0.984987	0.08296	N	0.967712	T	0.15435	0.0372	L	0.31804	0.96	0.09310	N	0.999999	B	0.24186	0.099	B	0.24394	0.053	T	0.36817	-0.9732	10	0.17832	T	0.49	.	3.8982	0.09149	0.0:0.737:0.0:0.263	rs3188305;rs17412432	69	P01037	CYTN_HUMAN	Q	69	ENSP00000305731:R69Q;ENSP00000381439:R69Q	ENSP00000305731:R69Q	R	-	2	0	CST1	23679298	0.000000	0.05858	0.009000	0.14445	0.013000	0.08279	-0.370000	0.07523	-0.005000	0.14395	0.184000	0.17185	CGG		0.572	CST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078351.2	NM_001898		26	35	0	0	0	1	0	26	35				
HTR4	3360	broad.mit.edu	37	5	147863825	147863825	+	Intron	SNP	C	C	G	rs200928076		TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr5:147863825C>G	ENST00000377888.3	-	7	1215				HTR4_ENST00000360693.3_Missense_Mutation_p.L398F|HTR4_ENST00000520514.1_Intron|HTR4_ENST00000314512.6_Intron|HTR4_ENST00000521735.1_Intron|HTR4_ENST00000517929.1_Intron|HTR4_ENST00000354217.2_Intron|HTR4_ENST00000362016.2_Intron|HTR4_ENST00000521530.1_Intron	NM_000870.5	NP_000861.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled						G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|regulation of appetite (GO:0032098)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cinitapride(DB08810)|Cisapride(DB00604)|Ergoloid mesylate(DB01049)|Metoclopramide(DB01233)|Ondansetron(DB00904)	atagttaccccaagacaggct	0.408																																					GBM(120;370 1604 14007 17804 41573)	ENST00000360693.3																			0				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1192-1194)ttG>ttC		5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)						81.0	81.0	81.0					5																	147863825		2203	4300	6503	SO:0001627	intron_variant	3360				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity	g.chr5:147863825C>G	Y08756	CCDS4291.1, CCDS34270.1, CCDS34271.1, CCDS34272.1, CCDS34273.1, CCDS34273.2, CCDS75353.1	5q31-q33	2012-08-08	2012-02-03		ENSG00000164270	ENSG00000164270		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5299	protein-coding gene	gene with protein product		602164	"""5-hydroxytryptamine (serotonin) receptor 4"""			9371406, 9276448	Standard	NM_199453		Approved	5-HT4	uc021yfj.1	Q13639	OTTHUMG00000129931	ENST00000377888.3:c.1077-969G>C	5.37:g.147863825C>G						HTR4_ENST00000520514.1_Intron|HTR4_ENST00000521735.1_Intron|HTR4_ENST00000521530.1_Intron|HTR4_ENST00000354217.2_Intron|HTR4_ENST00000377888.3_Intron|HTR4_ENST00000314512.6_Intron|HTR4_ENST00000517929.1_Intron|HTR4_ENST00000362016.2_Intron	p.L398F	NM_001040173.2	NP_001035263.1	Q13639	5HT4R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		7	1332	-			359					C4WYH4|Q546Q1|Q684M0|Q712M9|Q96KH9|Q96KI0|Q9H199|Q9NY73|Q9UBM6|Q9UBT4|Q9UE22|Q9UE23|Q9UQR6	Missense_Mutation	SNP	ENST00000377888.3	37	c.1194G>C	CCDS4291.1	.	.	.	.	.	.	.	.	.	.	C	8.459	0.854928	0.17106	.	.	ENSG00000164270	ENST00000360693	D	0.82167	-1.58	3.76	-1.17	0.09648	.	5.804440	0.00357	N	0.000036	T	0.72946	0.3524	.	.	.	0.09310	N	1	B	0.19583	0.037	B	0.13407	0.009	T	0.56402	-0.7985	9	0.49607	T	0.09	.	3.9765	0.09476	0.0:0.3794:0.1833:0.4373	.	398	Q712M9	.	F	398	ENSP00000353915:L398F	ENSP00000353915:L398F	L	-	3	2	HTR4	147844018	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.791000	0.01758	-0.271000	0.09272	-0.145000	0.13849	TTG		0.408	HTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252187.2	NM_000870		4	15	0	0	0	1	0	4	15				
CTCFL	140690	broad.mit.edu	37	20	56078540	56078540	+	Missense_Mutation	SNP	C	C	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr20:56078540C>A	ENST00000608263.1	-	9	2453	c.1792G>T	c.(1792-1794)Ggt>Tgt	p.G598C	CTCFL_ENST00000502686.2_Missense_Mutation_p.G336C|CTCFL_ENST00000433949.3_Missense_Mutation_p.G393C|CTCFL_ENST00000371196.2_Missense_Mutation_p.G598C|CTCFL_ENST00000423479.3_Missense_Mutation_p.G598C|CTCFL_ENST00000429804.3_Missense_Mutation_p.G548C|CTCFL_ENST00000608440.1_Missense_Mutation_p.G598C|CTCFL_ENST00000243914.3_Missense_Mutation_p.G598C|CTCFL_ENST00000609232.1_Missense_Mutation_p.G598C	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	598					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			TCCTTCTGACCCTTTGTGGCT	0.498																																						ENST00000429804.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(1642-1644)Ggt>Tgt		CCCTC-binding factor (zinc finger protein)-like							208.0	181.0	190.0					20																	56078540		2203	4300	6503	SO:0001583	missense	140690				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:56078540C>A		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.1792G>T	20.37:g.56078540C>A	ENSP00000476783:p.Gly598Cys					CTCFL_ENST00000433949.2_Missense_Mutation_p.G598C|CTCFL_ENST00000502686.2_Missense_Mutation_p.G336C|CTCFL_ENST00000422109.2_3'UTR|CTCFL_ENST00000243914.3_Missense_Mutation_p.G598C|CTCFL_ENST00000371196.2_Missense_Mutation_p.G598C|CTCFL_ENST00000426658.2_3'UTR|CTCFL_ENST00000423479.2_Missense_Mutation_p.G598C	p.G548C	NM_001269046.1	NP_001255975.1	Q8NI51	CTCFL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)		9	2202	-	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		598					A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Missense_Mutation	SNP	ENST00000608263.1	37	c.1642G>T	CCDS13459.1	.	.	.	.	.	.	.	.	.	.	C	8.800	0.932650	0.18131	.	.	ENSG00000124092	ENST00000423479;ENST00000243914;ENST00000371196;ENST00000429804;ENST00000433949;ENST00000502686	T;T;T;T;T;T	0.11063	2.82;2.81;2.81;3.03;4.93;4.93	2.28	-1.21	0.09524	.	.	.	.	.	T	0.05090	0.0136	N	0.14661	0.345	0.09310	N	0.999998	P;P;D;P;P	0.54047	0.953;0.939;0.964;0.9;0.9	B;B;B;B;B	0.40602	0.129;0.237;0.318;0.334;0.062	T	0.30650	-0.9971	9	0.72032	D	0.01	.	2.955	0.05874	0.0:0.448:0.238:0.314	.	598;548;598;598;598	A6XGM2;E7EUE3;A1L4C6;A6XGL8;Q8NI51	.;.;.;.;CTCFL_HUMAN	C	598;598;598;548;598;336	ENSP00000415579:G598C;ENSP00000243914:G598C;ENSP00000360239:G598C;ENSP00000415329:G548C;ENSP00000392034:G598C;ENSP00000437999:G336C	ENSP00000243914:G598C	G	-	1	0	CTCFL	55511946	0.033000	0.19621	0.000000	0.03702	0.010000	0.07245	0.062000	0.14389	-0.251000	0.09542	-0.424000	0.05967	GGT		0.498	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		11	117	1	0	1.58986e-06	1	1.79777e-06	11	117				
DNAH5	1767	broad.mit.edu	37	5	13862786	13862786	+	Missense_Mutation	SNP	T	T	C			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr5:13862786T>C	ENST00000265104.4	-	29	4771	c.4667A>G	c.(4666-4668)gAc>gGc	p.D1556G	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1556	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGTTTTATTGTCCCATTCATT	0.448									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(4666-4668)gAc>gGc		dynein, axonemal, heavy chain 5							235.0	213.0	221.0					5																	13862786		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13862786T>C	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.4667A>G	5.37:g.13862786T>C	ENSP00000265104:p.Asp1556Gly					CTB-51A17.1_ENST00000503244.1_RNA	p.D1556G	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			29	4771	-	Lung NSC(4;0.00476)		1556			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.4667A>G	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	T	12.23	1.874669	0.33069	.	.	ENSG00000039139	ENST00000265104	T	0.61274	0.12	5.22	5.22	0.72569	Dynein heavy chain, domain-2 (1);	0.047921	0.85682	D	0.000000	T	0.45216	0.1331	N	0.17723	0.515	0.80722	D	1	B	0.02656	0.0	B	0.10450	0.005	T	0.40572	-0.9556	10	0.66056	D	0.02	.	15.0967	0.72242	0.0:0.0:0.0:1.0	.	1556	Q8TE73	DYH5_HUMAN	G	1556	ENSP00000265104:D1556G	ENSP00000265104:D1556G	D	-	2	0	DNAH5	13915786	1.000000	0.71417	1.000000	0.80357	0.067000	0.16453	6.281000	0.72632	1.987000	0.57996	0.528000	0.53228	GAC		0.448	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		15	84	0	0	0	1	0	15	84				
OR2M5	127059	broad.mit.edu	37	1	248308511	248308511	+	Missense_Mutation	SNP	G	G	C			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr1:248308511G>C	ENST00000366476.1	+	1	62	c.62G>C	c.(61-63)aGc>aCc	p.S21T		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	21						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)			TTCAATCACAGCCCCACCCAC	0.473																																						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.(61-63)aGc>aCc		olfactory receptor, family 2, subfamily M, member 5							211.0	214.0	213.0					1																	248308511		2203	4300	6503	SO:0001583	missense	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248308511G>C		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.62G>C	1.37:g.248308511G>C	ENSP00000355432:p.Ser21Thr						p.S21T	NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		1	62	+	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)		21						Missense_Mutation	SNP	ENST00000366476.1	37	c.62G>C	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	g	3.453	-0.111558	0.06881	.	.	ENSG00000162727	ENST00000366476	T	0.03004	4.08	3.28	2.33	0.28932	.	0.201526	0.24260	U	0.040082	T	0.02571	0.0078	N	0.21583	0.68	0.09310	N	1	B	0.17268	0.021	B	0.17722	0.019	T	0.44636	-0.9315	10	0.25106	T	0.35	.	6.8711	0.24121	0.2268:0.0:0.7732:0.0	.	21	A3KFT3	OR2M5_HUMAN	T	21	ENSP00000355432:S21T	ENSP00000355432:S21T	S	+	2	0	OR2M5	246375134	0.003000	0.15002	0.610000	0.28997	0.879000	0.50718	0.717000	0.25851	1.528000	0.49103	0.492000	0.49549	AGC		0.473	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		96	102	0	0	0	1	0	96	102				
LPXN	9404	broad.mit.edu	37	11	58318551	58318551	+	Missense_Mutation	SNP	G	G	A	rs200939192	byFrequency	TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr11:58318551G>A	ENST00000395074.2	-	5	561	c.473C>T	c.(472-474)cCg>cTg	p.P158L	LPXN_ENST00000528954.1_Missense_Mutation_p.P163L|LPXN_ENST00000528489.1_Missense_Mutation_p.P138L	NM_004811.2	NP_004802.1	O60711	LPXN_HUMAN	leupaxin	158	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell adhesion (GO:0007155)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell adhesion (GO:0007162)|protein complex assembly (GO:0006461)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|podosome (GO:0002102)	transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				CCCAGCAATCGGTTTCTGGCA	0.507													G|||	2	0.000399361	0.0	0.0	5008	,	,		18395	0.002		0.0	False		,,,				2504	0.0					ENST00000528954.1																			0				NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(487-489)cCg>cTg		leupaxin							93.0	84.0	87.0					11																	58318551		2201	4295	6496	SO:0001583	missense	9404				cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding	g.chr11:58318551G>A	AF062075	CCDS7969.1, CCDS53635.1	11q12.1	2013-09-20			ENSG00000110031	ENSG00000110031			14061	protein-coding gene	gene with protein product		605390				9565592	Standard	NM_004811		Approved	LDPL	uc001nmw.3	O60711	OTTHUMG00000167466	ENST00000395074.2:c.473C>T	11.37:g.58318551G>A	ENSP00000378512:p.Pro158Leu					LPXN_ENST00000395074.2_Missense_Mutation_p.P158L|LPXN_ENST00000528489.1_Missense_Mutation_p.P138L	p.P163L	NM_001143995.1	NP_001137467.1	O60711	LPXN_HUMAN			5	607	-		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)	158			LIM zinc-binding 1.		B2R8B4|B4DV71|Q53FW6|Q6FI07	Missense_Mutation	SNP	ENST00000395074.2	37	c.488C>T	CCDS7969.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	18.73	3.686255	0.68157	.	.	ENSG00000110031	ENST00000528954;ENST00000395074	D;D	0.87571	-2.27;-2.27	5.7	5.7	0.88788	Zinc finger, LIM-type (5);	0.180978	0.51477	D	0.000084	D	0.87525	0.6199	M	0.63428	1.95	0.80722	D	1	P;P;P	0.46578	0.717;0.88;0.68	B;B;P	0.44990	0.26;0.251;0.466	D	0.85128	0.0973	10	0.22706	T	0.39	.	18.6126	0.91291	0.0:0.0:1.0:0.0	.	138;163;158	B7Z5P7;B4DV71;O60711	.;.;LPXN_HUMAN	L	163;158	ENSP00000431284:P163L;ENSP00000378512:P158L	ENSP00000378512:P158L	P	-	2	0	LPXN	58075127	1.000000	0.71417	0.918000	0.36340	0.645000	0.38454	4.551000	0.60740	2.683000	0.91414	0.655000	0.94253	CCG		0.507	LPXN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000394709.1	NM_004811		14	28	0	0	0	1	0	14	28				
CTTN	2017	broad.mit.edu	37	11	70282397	70282397	+	3'UTR	SNP	C	C	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr11:70282397C>T	ENST00000301843.8	+	0	2988				CTTN_ENST00000376561.3_Silent_p.I596I|CTTN_ENST00000346329.3_3'UTR	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin						negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitotic spindle midzone (GO:1990023)|ruffle (GO:0001726)				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		GGAAACTCATCTCCTTCCTGA	0.582																																						ENST00000376561.3																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31						c.(1786-1788)atC>atT		cortactin							80.0	79.0	80.0					11																	70282397		873	1985	2858	SO:0001624	3_prime_UTR_variant	2017					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding	g.chr11:70282397C>T	AJ288897	CCDS8197.1, CCDS41680.1, CCDS53676.1	11q13	2008-02-05	2004-06-08	2004-06-09	ENSG00000085733	ENSG00000085733			3338	protein-coding gene	gene with protein product		164765	"""ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)"""	EMS1		7685625	Standard	NM_005231		Approved		uc001opu.3	Q14247	OTTHUMG00000134307	ENST00000301843.8:c.*1129C>T	11.37:g.70282397C>T						CTTN_ENST00000346329.3_3'UTR|CTTN_ENST00000301843.8_3'UTR	p.I596I	NM_001184740.1	NP_001171669.1	Q14247	SRC8_HUMAN	BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)	19	1959	+			0					Q8N707|Q96H99	Silent	SNP	ENST00000301843.8	37	c.1788C>T	CCDS41680.1																																																																																				0.582	CTTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259233.2	NM_138565		11	138	0	0	0	1	0	11	138				
FBLN7	129804	broad.mit.edu	37	2	112922739	112922739	+	Missense_Mutation	SNP	C	C	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr2:112922739C>A	ENST00000331203.2	+	3	668	c.397C>A	c.(397-399)Cac>Aac	p.H133N	FBLN7_ENST00000409450.3_Missense_Mutation_p.H133N|FBLN7_ENST00000472377.1_3'UTR|FBLN7_ENST00000409667.3_Missense_Mutation_p.H133N|FBLN7_ENST00000409903.1_Missense_Mutation_p.H133N	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	133	Sushi. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GGAGCAGCCCCACTGTAGAGG	0.557																																						ENST00000331203.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(397-399)Cac>Aac		fibulin 7							81.0	74.0	76.0					2																	112922739		2203	4300	6503	SO:0001583	missense	129804				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding	g.chr2:112922739C>A		CCDS2095.1, CCDS46391.1	2q13	2010-06-15			ENSG00000144152	ENSG00000144152		"""Fibulins"""	26740	protein-coding gene	gene with protein product		611551				17699513	Standard	NM_153214		Approved	FLJ37440, TM14	uc002tho.1	Q53RD9	OTTHUMG00000153267	ENST00000331203.2:c.397C>A	2.37:g.112922739C>A	ENSP00000331411:p.His133Asn					FBLN7_ENST00000472377.1_3'UTR|FBLN7_ENST00000409903.1_Missense_Mutation_p.H133N|FBLN7_ENST00000409450.3_Missense_Mutation_p.H133N|FBLN7_ENST00000409667.3_Missense_Mutation_p.H133N	p.H133N	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN			3	668	+			133			Sushi.		A0JNV1|A0JNV2|Q5H9P5|Q8N9G0	Missense_Mutation	SNP	ENST00000331203.2	37	c.397C>A	CCDS2095.1	.	.	.	.	.	.	.	.	.	.	C	9.582	1.123804	0.20959	.	.	ENSG00000144152	ENST00000331203;ENST00000409903;ENST00000409667;ENST00000409450	D;D;T;D	0.91464	-2.85;-2.85;-0.08;-2.85	5.36	4.44	0.53790	Complement control module (2);Sushi/SCR/CCP (3);	0.910225	0.09738	N	0.762210	T	0.81664	0.4870	N	0.10916	0.065	0.09310	N	1	B;B;B;B	0.27997	0.011;0.007;0.001;0.197	B;B;B;B	0.32864	0.014;0.012;0.009;0.154	T	0.68356	-0.5430	10	0.17832	T	0.49	-13.4073	10.221	0.43196	0.0:0.7648:0.1514:0.0838	.	133;133;133;133	Q53RD9-4;Q53RD9-2;Q53RD9;B8ZZC1	.;.;FBLN7_HUMAN;.	N	133	ENSP00000331411:H133N;ENSP00000386295:H133N;ENSP00000386822:H133N;ENSP00000387000:H133N	ENSP00000331411:H133N	H	+	1	0	FBLN7	112639210	0.000000	0.05858	0.961000	0.40146	0.922000	0.55478	0.601000	0.24119	2.533000	0.85409	0.655000	0.94253	CAC		0.557	FBLN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330505.1	NM_153214		32	24	1	0	2.81731e-10	1	3.36703e-10	32	24				
GK	2710	broad.mit.edu	37	X	30739058	30739058	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chrX:30739058G>T	ENST00000378943.3	+	17	1608	c.1429G>T	c.(1429-1431)Gag>Tag	p.E477*	GK_ENST00000427190.1_Nonsense_Mutation_p.E278*|GK_ENST00000378945.3_Nonsense_Mutation_p.E477*|RP11-242C19.2_ENST00000497961.1_RNA|GK-AS1_ENST00000464659.1_RNA|GK_ENST00000378946.3_Nonsense_Mutation_p.E483*	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN	glycerol kinase	483					cellular lipid metabolic process (GO:0044255)|glucose homeostasis (GO:0042593)|glycerol catabolic process (GO:0019563)|glycerol metabolic process (GO:0006071)|glycerol-3-phosphate biosynthetic process (GO:0046167)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)			central_nervous_system(1)|large_intestine(3)	4						TCTCGAACCCGAGGATTTGTC	0.522																																						ENST00000378943.3																			0				central_nervous_system(1)|large_intestine(3)	4						c.(1429-1431)Gag>Tag		glycerol kinase							55.0	46.0	49.0					X																	30739058		2202	4297	6499	SO:0001587	stop_gained	2710				glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chrX:30739058G>T	X78711	CCDS14225.1, CCDS35224.1, CCDS48090.1, CCDS75963.1	Xp21.3	2014-09-17			ENSG00000198814	ENSG00000198814	2.7.1.30	"""Glycerol kinases"""	4289	protein-coding gene	gene with protein product		300474				7987308	Standard	NM_203391		Approved	GK1, GKD	uc022buj.1	P32189	OTTHUMG00000021328	ENST00000378943.3:c.1429G>T	X.37:g.30739058G>T	ENSP00000368226:p.Glu477*					GK_ENST00000378945.3_Nonsense_Mutation_p.E477*|GK_ENST00000378946.3_Nonsense_Mutation_p.E483*|RP11-242C19.2_ENST00000497961.1_RNA|GK_ENST00000427190.1_Nonsense_Mutation_p.E278*|GK-AS1_ENST00000464659.1_RNA	p.E477*	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN			17	1608	+			483					A6NJP5|B2R833|Q6IQ27|Q8IVR5|Q9UMP0|Q9UMP1	Nonsense_Mutation	SNP	ENST00000378943.3	37	c.1429G>T	CCDS48090.1	.	.	.	.	.	.	.	.	.	.	G	36	5.794203	0.96952	.	.	ENSG00000198814	ENST00000378946;ENST00000378943;ENST00000534212;ENST00000378945;ENST00000427190;ENST00000451432;ENST00000378938	.	.	.	5.49	5.49	0.81192	.	0.188440	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	18.6129	0.91293	0.0:0.0:1.0:0.0	.	.	.	.	X	483;477;483;477;278;320;72	.	ENSP00000368221:E72X	E	+	1	0	GK	30648979	1.000000	0.71417	0.933000	0.37362	0.037000	0.13140	6.600000	0.74132	2.426000	0.82243	0.600000	0.82982	GAG		0.522	GK-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056170.1	NM_000167		10	47	1	0	0.000442599	1	0.000481942	10	47				
IQCH	64799	broad.mit.edu	37	15	67768123	67768123	+	Silent	SNP	C	C	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr15:67768123C>A	ENST00000335894.4	+	18	2832	c.2766C>A	c.(2764-2766)atC>atA	p.I922I	IQCH_ENST00000546225.1_Silent_p.I579I|IQCH_ENST00000360277.4_Silent_p.I583I|IQCH-AS1_ENST00000559298.1_lincRNA|IQCH_ENST00000358767.3_Silent_p.I658I	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	922										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		TTCTCCAGATCTGTAGGGCCC	0.502																																						ENST00000335894.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33						c.(2764-2766)atC>atA		IQ motif containing H							151.0	122.0	132.0					15																	67768123		2201	4299	6500	SO:0001819	synonymous_variant	64799							g.chr15:67768123C>A	AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.2766C>A	15.37:g.67768123C>A						IQCH_ENST00000358767.3_Silent_p.I658I|IQCH-AS1_ENST00000559298.1_lincRNA|IQCH_ENST00000546225.1_Silent_p.I579I|IQCH_ENST00000360277.4_Silent_p.I583I	p.I922I	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN		Colorectal(3;0.0856)	18	2832	+			922					A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Silent	SNP	ENST00000335894.4	37	c.2766C>A	CCDS32273.1																																																																																				0.502	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256969.1	NM_022784		9	42	1	0	1.76689e-08	1	2.06138e-08	9	42				
ABCF1	23	broad.mit.edu	37	6	30550906	30550906	+	Missense_Mutation	SNP	G	G	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr6:30550906G>A	ENST00000326195.8	+	10	968	c.856G>A	c.(856-858)Gtg>Atg	p.V286M	ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Missense_Mutation_p.V248M|MIR877_ENST00000401282.1_RNA	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	286					inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						TGACTTCTCCGTGTCCCAGGC	0.498																																						ENST00000326195.8																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						c.(856-858)Gtg>Atg		ATP-binding cassette, sub-family F (GCN20), member 1							89.0	93.0	92.0					6																	30550906		1509	2708	4217	SO:0001583	missense	23				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding	g.chr6:30550906G>A	AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"""ATP binding cassette transporters / subfamily F"""	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.856G>A	6.37:g.30550906G>A	ENSP00000313603:p.Val286Met					ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Missense_Mutation_p.V248M	p.V286M	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN			10	968	+			286					A2BF75|O14897|Q69YP6	Missense_Mutation	SNP	ENST00000326195.8	37	c.856G>A	CCDS34380.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.738855	0.69304	.	.	ENSG00000204574	ENST00000326195;ENST00000376545;ENST00000455943;ENST00000441867	T;T;T	0.55930	0.52;0.83;0.49	5.41	5.41	0.78517	.	0.280189	0.34002	N	0.004351	T	0.43942	0.1270	L	0.41573	1.285	0.80722	D	1	P;P;P	0.52692	0.905;0.955;0.955	P;P;P	0.51079	0.557;0.658;0.658	T	0.16453	-1.0402	10	0.22109	T	0.4	-26.4394	17.9672	0.89102	0.0:0.0:1.0:0.0	.	248;286;286	Q2L6I2;Q8NE71;A2BF75	.;ABCF1_HUMAN;.	M	286;248;287;287	ENSP00000313603:V286M;ENSP00000365728:V248M;ENSP00000405512:V287M	ENSP00000313603:V286M	V	+	1	0	ABCF1	30658885	1.000000	0.71417	0.997000	0.53966	0.953000	0.61014	5.478000	0.66806	2.553000	0.86117	0.313000	0.20887	GTG		0.498	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076137.3			33	50	0	0	0	1	0	33	50				
TRIB1	10221	broad.mit.edu	37	8	126448672	126448672	+	Missense_Mutation	SNP	G	G	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr8:126448672G>A	ENST00000519576.1	+	2	648	c.385G>A	c.(385-387)Gag>Aag	p.E129K	TRIB1_ENST00000520847.1_Missense_Mutation_p.E194K|TRIB1_ENST00000311922.3_Missense_Mutation_p.E360K					tribbles pseudokinase 1											NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			GATTGTTCCAGAGTACCAGGA	0.468																																						ENST00000311922.3																			0				NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						c.(1078-1080)Gag>Aag		tribbles pseudokinase 1							83.0	85.0	84.0					8																	126448672		2203	4300	6503	SO:0001583	missense	10221				JNK cascade|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity|response to lipopolysaccharide	cytoplasm|nucleus	ATP binding|mitogen-activated protein kinase kinase binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	g.chr8:126448672G>A	AF205437	CCDS6357.1, CCDS64971.1	8q24.13	2013-10-03	2013-10-03			ENSG00000173334			16891	protein-coding gene	gene with protein product		609461	"""tribbles homolog 1 (Drosophila)"""			9342215, 16715410	Standard	NM_001282985		Approved	C8FW, GIG2, TRB1	uc003yrx.3	Q96RU8		ENST00000519576.1:c.385G>A	8.37:g.126448672G>A	ENSP00000428879:p.Glu129Lys					TRIB1_ENST00000520847.1_Missense_Mutation_p.E194K|TRIB1_ENST00000519576.1_Missense_Mutation_p.E129K	p.E360K	NM_025195.2	NP_079471.1	Q96RU8	TRIB1_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)		3	1660	+	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		360		E -> A (in dbSNP:rs35454769).|E -> D (in dbSNP:rs16900603).				Missense_Mutation	SNP	ENST00000519576.1	37	c.1078G>A		.	.	.	.	.	.	.	.	.	.	G	22.0	4.228614	0.79576	.	.	ENSG00000173334	ENST00000311922;ENST00000520847;ENST00000519576	T;T;T	0.44881	0.92;0.91;1.17	5.88	5.0	0.66597	.	0.241181	0.21003	U	0.081838	T	0.31796	0.0808	L	0.27053	0.805	0.45056	D	0.998071	P	0.47302	0.893	B	0.39590	0.304	T	0.04347	-1.0958	10	0.27082	T	0.32	-15.0092	16.8428	0.85973	0.0:0.1286:0.8714:0.0	.	360	Q96RU8	TRIB1_HUMAN	K	360;194;129	ENSP00000312150:E360K;ENSP00000429063:E194K;ENSP00000428879:E129K	ENSP00000312150:E360K	E	+	1	0	TRIB1	126517854	1.000000	0.71417	0.996000	0.52242	0.862000	0.49288	3.945000	0.56637	1.483000	0.48342	0.561000	0.74099	GAG		0.468	TRIB1-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000381433.1	NM_025195		9	110	0	0	0	1	0	9	110				
PCDHA9	9752	broad.mit.edu	37	5	140242764	140242764	+	Intron	SNP	G	G	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr5:140242764G>A	ENST00000532602.1	+	1	3427				PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|AC005609.1_ENST00000502505.1_Missense_Mutation_p.T71M|PCDHA3_ENST00000522353.2_Intron|PCDHA14_ENST00000562220.1_RNA|PCDHA10_ENST00000506939.2_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACTGCCACCGTCACCGTGGT	0.682																																					Melanoma(55;1800 1972 14909)	ENST00000502505.1																			0											c.(211-213)aCg>aTg																																						SO:0001627	intron_variant	0							g.chr5:140242764G>A	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.2394+12290G>A	5.37:g.140242764G>A						PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA14_ENST00000562220.1_RNA|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron	p.T71M							1	460	-								O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.212C>T	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	G	6.957	0.546531	0.13312	.	.	ENSG00000249034	ENST00000502505	.	.	.	4.07	3.2	0.36748	.	.	.	.	.	T	0.68513	0.3009	.	.	.	0.80722	D	1	D	0.69078	0.997	P	0.58660	0.843	T	0.71020	-0.4713	7	0.56958	D	0.05	.	11.9872	0.53155	0.0857:0.0:0.9143:0.0	.	71	Q8NB83	.	M	71	.	ENSP00000424817:T71M	T	-	2	0	AC005609.17	140222948	0.392000	0.25229	0.567000	0.28434	0.001000	0.01503	3.483000	0.53194	0.935000	0.37341	-0.657000	0.03884	ACG		0.682	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		25	26	0	0	0	1	0	25	26				
OR4B1	119765	broad.mit.edu	37	11	48238492	48238492	+	Missense_Mutation	SNP	T	T	A	rs192226278		TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr11:48238492T>A	ENST00000309562.2	+	1	149	c.131T>A	c.(130-132)gTt>gAt	p.V44D		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	44						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GGCCTCATCGTTCTGACGGTC	0.517																																						ENST00000309562.2																			0				breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(130-132)gTt>gAt		olfactory receptor, family 4, subfamily B, member 1							222.0	188.0	199.0					11																	48238492		2201	4298	6499	SO:0001583	missense	119765				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48238492T>A	AB065848	CCDS31485.1	11p11.2	2012-08-09			ENSG00000175619	ENSG00000175619		"""GPCR / Class A : Olfactory receptors"""	8290	protein-coding gene	gene with protein product							Standard	NM_001005470		Approved	OST208	uc010rhs.2	Q8NGF8	OTTHUMG00000166576	ENST00000309562.2:c.131T>A	11.37:g.48238492T>A	ENSP00000311605:p.Val44Asp						p.V44D	NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN			1	149	+			44					Q6IF75|Q96R64	Missense_Mutation	SNP	ENST00000309562.2	37	c.131T>A	CCDS31485.1	.	.	.	.	.	.	.	.	.	.	T	15.20	2.763360	0.49574	.	.	ENSG00000175619	ENST00000309562	T	0.00532	6.75	5.4	5.4	0.78164	GPCR, rhodopsin-like superfamily (1);	0.140527	0.32719	N	0.005740	T	0.02533	0.0077	M	0.93854	3.465	0.24743	N	0.99303	D	0.56521	0.976	P	0.56216	0.794	T	0.11690	-1.0577	10	0.87932	D	0	.	13.3852	0.60791	0.0:0.0:0.0:1.0	.	44	Q8NGF8	OR4B1_HUMAN	D	44	ENSP00000311605:V44D	ENSP00000311605:V44D	V	+	2	0	OR4B1	48195068	0.973000	0.33851	0.067000	0.19924	0.122000	0.20287	5.871000	0.69628	2.046000	0.60703	0.329000	0.21502	GTT		0.517	OR4B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390554.1	NM_001005470		19	107	0	0	0	1	0	19	107				
HPCAL1	3241	broad.mit.edu	37	2	10560021	10560021	+	Silent	SNP	C	C	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr2:10560021C>T	ENST00000381765.3	+	4	664	c.138C>T	c.(136-138)gaC>gaT	p.D46D	HPCAL1_ENST00000307845.3_Silent_p.D46D	NM_134421.2	NP_602293.1	P37235	HPCL1_HUMAN	hippocalcin-like 1	46	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)		TGACCGTGGACGAGTTCAAGA	0.617																																					Pancreas(70;1384 1800 31595 46836)	ENST00000381765.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	9						c.(136-138)gaC>gaT		hippocalcin-like 1							106.0	84.0	91.0					2																	10560021		2203	4300	6503	SO:0001819	synonymous_variant	3241						calcium ion binding	g.chr2:10560021C>T		CCDS1671.1	2p25.1	2013-01-10			ENSG00000115756	ENSG00000115756		"""EF-hand domain containing"""	5145	protein-coding gene	gene with protein product	"""visinin-like protein 3"", ""calcium-binding protein BDR-1"""	600207				8038222, 14739275	Standard	NM_002149		Approved	BDR1, HLP2, VILIP-3	uc031rnq.1	P37235	OTTHUMG00000090451	ENST00000381765.3:c.138C>T	2.37:g.10560021C>T						HPCAL1_ENST00000307845.3_Silent_p.D46D	p.D46D	NM_134421.2	NP_602293.1	P37235	HPCL1_HUMAN		Epithelial(75;0.214)	4	664	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		46			EF-hand 1.		Q969S5	Silent	SNP	ENST00000381765.3	37	c.138C>T	CCDS1671.1																																																																																				0.617	HPCAL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206898.1	NM_002149		29	36	0	0	0	1	0	29	36				
SLC5A1	6523	broad.mit.edu	37	22	32481007	32481007	+	Missense_Mutation	SNP	C	C	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr22:32481007C>T	ENST00000266088.4	+	9	1256	c.1006C>T	c.(1006-1008)Cgc>Tgc	p.R336C	SLC5A1_ENST00000543737.1_Missense_Mutation_p.R209C	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	336					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	AATGATCAGCCGCATTCTGTA	0.483																																						ENST00000266088.4																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						c.(1006-1008)Cgc>Tgc		solute carrier family 5 (sodium/glucose cotransporter), member 1							185.0	156.0	165.0					22																	32481007		2203	4300	6503	SO:0001583	missense	6523				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	g.chr22:32481007C>T		CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"""Solute carriers"""	11036	protein-coding gene	gene with protein product	"""sodium/glucose cotransporter 1"""	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.1006C>T	22.37:g.32481007C>T	ENSP00000266088:p.Arg336Cys					SLC5A1_ENST00000543737.1_Missense_Mutation_p.R209C	p.R336C	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN			9	1256	+			336					B2R7E2|B7Z4Q9|B7ZA69	Missense_Mutation	SNP	ENST00000266088.4	37	c.1006C>T	CCDS13902.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.820257	0.71028	.	.	ENSG00000100170	ENST00000266088;ENST00000543737	D;D	0.89196	-2.48;-2.48	4.92	4.92	0.64577	.	0.051673	0.85682	D	0.000000	D	0.96269	0.8783	H	0.95574	3.69	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97541	1.0086	10	0.87932	D	0	.	17.4711	0.87646	0.0:1.0:0.0:0.0	.	336	P13866	SC5A1_HUMAN	C	336;209	ENSP00000266088:R336C;ENSP00000444898:R209C	ENSP00000266088:R336C	R	+	1	0	SLC5A1	30811007	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	4.745000	0.62125	2.443000	0.82685	0.591000	0.81541	CGC		0.483	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075656.3	NM_000343		17	89	0	0	0	1	0	17	89				
LRRN1	57633	broad.mit.edu	37	3	3887354	3887354	+	Missense_Mutation	SNP	G	G	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr3:3887354G>T	ENST00000319331.3	+	2	1790	c.1029G>T	c.(1027-1029)atG>atT	p.M343I	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	343						integral component of membrane (GO:0016021)				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		AAAGCTTGATGCTGAACAACA	0.483																																						ENST00000319331.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26						c.(1027-1029)atG>atT		leucine rich repeat neuronal 1							73.0	65.0	68.0					3																	3887354		2203	4300	6503	SO:0001583	missense	57633					integral to membrane		g.chr3:3887354G>T	AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"""Immunoglobulin superfamily / I-set domain containing"""	20980	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 3"""					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.1029G>T	3.37:g.3887354G>T	ENSP00000314901:p.Met343Ile					SUMF1_ENST00000534863.1_Intron	p.M343I	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN		Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)	2	1790	+			343					Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Missense_Mutation	SNP	ENST00000319331.3	37	c.1029G>T	CCDS33685.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.272124	0.80469	.	.	ENSG00000175928	ENST00000319331	T	0.56611	0.45	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.46718	0.1407	L	0.46741	1.465	0.80722	D	1	P	0.36282	0.546	B	0.32465	0.146	T	0.38329	-0.9666	10	0.20519	T	0.43	.	19.2531	0.93933	0.0:0.0:1.0:0.0	.	343	Q6UXK5	LRRN1_HUMAN	I	343	ENSP00000314901:M343I	ENSP00000314901:M343I	M	+	3	0	LRRN1	3862354	1.000000	0.71417	0.982000	0.44146	0.992000	0.81027	9.782000	0.99034	2.537000	0.85549	0.650000	0.86243	ATG		0.483	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2	NM_020873		9	30	1	0	1.76689e-08	1	2.06138e-08	9	30				
TFAP2B	7021	broad.mit.edu	37	6	50810826	50810826	+	Silent	SNP	G	G	A	rs151001753	byFrequency	TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr6:50810826G>A	ENST00000393655.3	+	7	1273	c.1104G>A	c.(1102-1104)acG>acA	p.T368T	TFAP2B_ENST00000263046.4_Silent_p.T377T	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	368				QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047). {ECO:0000305}.	aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					AAGAATTTACGGATCTACTGG	0.557																																					Pancreas(116;1373 2332 5475 10752)	ENST00000263046.4																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40						c.(1129-1131)acG>acA		transcription factor AP-2 beta (activating enhancer binding protein 2 beta)							96.0	101.0	99.0					6																	50810826		2203	4300	6503	SO:0001819	synonymous_variant	7021				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr6:50810826G>A	X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"""			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.1104G>A	6.37:g.50810826G>A						TFAP2B_ENST00000393655.3_Silent_p.T368T	p.T377T			Q92481	AP2B_HUMAN			8	1297	+	Lung NSC(77;0.156)		368	QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047).				Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Silent	SNP	ENST00000393655.3	37	c.1131G>A	CCDS4934.2																																																																																				0.557	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3	NM_003221		70	92	0	0	0	1	0	70	92				
TBX22	50945	broad.mit.edu	37	X	79279642	79279642	+	Missense_Mutation	SNP	C	C	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chrX:79279642C>T	ENST00000373294.5	+	3	465	c.437C>T	c.(436-438)cCg>cTg	p.P146L	TBX22_ENST00000373296.3_Missense_Mutation_p.P146L|TBX22_ENST00000373291.1_Missense_Mutation_p.P26L|TBX22_ENST00000442340.1_Missense_Mutation_p.P26L	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	146					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GATGTGGTGCCGGTGGATTCC	0.527																																						ENST00000442340.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(76-78)cCg>cTg		T-box 22							163.0	127.0	139.0					X																	79279642		2203	4300	6503	SO:0001583	missense	50945				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:79279642C>T	AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"""T-boxes"""	11600	protein-coding gene	gene with protein product		300307	"""cleft palate and/or ankyloglossia"""	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.437C>T	X.37:g.79279642C>T	ENSP00000362390:p.Pro146Leu					TBX22_ENST00000373294.5_Missense_Mutation_p.P146L|TBX22_ENST00000373296.3_Missense_Mutation_p.P146L|TBX22_ENST00000373291.1_Missense_Mutation_p.P26L	p.P26L	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN			4	567	+			146					Q5JZ06|Q96LC0|Q9HBF1	Missense_Mutation	SNP	ENST00000373294.5	37	c.77C>T	CCDS14445.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.391582	0.62066	.	.	ENSG00000122145	ENST00000373296;ENST00000442340;ENST00000373294;ENST00000373291	D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51	4.71	4.71	0.59529	p53-like transcription factor, DNA-binding (1);	0.136906	0.48767	D	0.000169	D	0.92658	0.7667	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	P	0.61201	0.885	D	0.93563	0.6897	10	0.72032	D	0.01	.	15.3728	0.74581	0.0:1.0:0.0:0.0	.	146	Q9Y458	TBX22_HUMAN	L	146;26;146;26	ENSP00000362393:P146L;ENSP00000396394:P26L;ENSP00000362390:P146L;ENSP00000362388:P26L	ENSP00000362388:P26L	P	+	2	0	TBX22	79166298	1.000000	0.71417	0.133000	0.22050	0.147000	0.21601	6.911000	0.75746	1.922000	0.55676	0.594000	0.82650	CCG		0.527	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	NM_016954		11	64	0	0	0	1	0	11	64				
TP53	7157	broad.mit.edu	37	17	7578265	7578265	+	Missense_Mutation	SNP	A	A	G			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr17:7578265A>G	ENST00000269305.4	-	6	773	c.584T>C	c.(583-585)aTc>aCc	p.I195T	TP53_ENST00000420246.2_Missense_Mutation_p.I195T|TP53_ENST00000445888.2_Missense_Mutation_p.I195T|TP53_ENST00000359597.4_Missense_Mutation_p.I195T|TP53_ENST00000413465.2_Missense_Mutation_p.I195T|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.I195T	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	195	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:9450901}.|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.I195T(69)|p.I195N(12)|p.I195S(10)|p.0?(8)|p.I195fs*14(5)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.I102S(2)|p.I102T(2)|p.I63T(2)|p.I63S(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I102fs*14(1)|p.I195fs*12(1)|p.I195fs*50(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I63fs*14(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TTCCACTCGGATAAGATGCTG	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		134	Substitution - Missense(99)|Whole gene deletion(8)|Insertion - Frameshift(7)|Deletion - In frame(6)|Complex - deletion inframe(6)|Unknown(5)|Deletion - Frameshift(2)|Complex - frameshift(1)	p.I195T(69)|p.I195N(12)|p.I195S(10)|p.0?(8)|p.I195fs*14(5)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.I102S(2)|p.I102T(2)|p.I63T(2)|p.I63S(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I102fs*14(1)|p.I195fs*12(1)|p.I195fs*50(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I63fs*14(1)|p.H193_I195>AP(1)	ovary(37)|breast(21)|large_intestine(18)|lung(10)|central_nervous_system(8)|biliary_tract(6)|haematopoietic_and_lymphoid_tissue(5)|skin(5)|stomach(4)|oesophagus(4)|bone(4)|endometrium(3)|urinary_tract(3)|upper_aerodigestive_tract(2)|liver(2)|pancreas(2)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(583-585)aTc>aCc	Other conserved DNA damage response genes	tumor protein p53							100.0	89.0	93.0					17																	7578265		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578265A>G	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.584T>C	17.37:g.7578265A>G	ENSP00000269305:p.Ile195Thr	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000455263.2_Missense_Mutation_p.I195T|TP53_ENST00000413465.2_Missense_Mutation_p.I195T|TP53_ENST00000359597.4_Missense_Mutation_p.I195T|TP53_ENST00000445888.2_Missense_Mutation_p.I195T|TP53_ENST00000269305.4_Missense_Mutation_p.I195T|TP53_ENST00000574684.1_Intron	p.I195T	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	716	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	195		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.584T>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	13.73	2.324656	0.41197	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99823	-6.95;-6.95;-6.95;-6.95;-6.95;-6.95;-6.95;-6.95	5.41	3.21	0.36854	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.103171	0.64402	N	0.000004	D	0.99785	0.9910	M	0.90019	3.08	0.52099	D	0.999943	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.991;0.989;0.998;0.997;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.995;0.953;0.979;0.995;0.993;0.996	D	0.98429	1.0581	10	0.87932	D	0	-18.4587	8.2743	0.31864	0.8356:0.0:0.1644:0.0	.	156;195;195;102;195;195;195	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	T	195;195;195;195;195;195;184;102;63;102;63	ENSP00000410739:I195T;ENSP00000352610:I195T;ENSP00000269305:I195T;ENSP00000398846:I195T;ENSP00000391127:I195T;ENSP00000391478:I195T;ENSP00000425104:I63T;ENSP00000423862:I102T	ENSP00000269305:I195T	I	-	2	0	TP53	7518990	1.000000	0.71417	0.946000	0.38457	0.026000	0.11368	9.287000	0.95975	0.456000	0.26937	-0.256000	0.11100	ATC		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		19	32	0	0	0	1	0	19	32				
ABCA12	26154	broad.mit.edu	37	2	215880300	215880300	+	Silent	SNP	G	G	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr2:215880300G>A	ENST00000272895.7	-	15	2089	c.1870C>T	c.(1870-1872)Ctg>Ttg	p.L624L	ABCA12_ENST00000389661.4_Silent_p.L306L	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	624					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GAAAGAGACAGGTTGCAGAAT	0.433																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(1870-1872)Ctg>Ttg		ATP-binding cassette, sub-family A (ABC1), member 12							111.0	106.0	108.0					2																	215880300		2203	4300	6503	SO:0001819	synonymous_variant	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215880300G>A	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.1870C>T	2.37:g.215880300G>A						ABCA12_ENST00000389661.4_Silent_p.L306L	p.L624L	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	15	2089	-		Renal(323;0.127)	624					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Silent	SNP	ENST00000272895.7	37	c.1870C>T	CCDS33372.1																																																																																				0.433	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		5	16	0	0	0	1	0	5	16				
RTTN	25914	broad.mit.edu	37	18	67673621	67673621	+	Missense_Mutation	SNP	T	T	C			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr18:67673621T>C	ENST00000255674.6	-	47	6807	c.6521A>G	c.(6520-6522)cAg>cGg	p.Q2174R	RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	2174					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				ACTGACCTTCTGATAATTGTA	0.408																																						ENST00000255674.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(6520-6522)cAg>cGg		rotatin							71.0	66.0	67.0					18																	67673621		1815	4079	5894	SO:0001583	missense	25914						binding	g.chr18:67673621T>C	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.6521A>G	18.37:g.67673621T>C	ENSP00000255674:p.Gln2174Arg					RTTN_ENST00000454359.1_3'UTR	p.Q2174R	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN			47	6807	-		Esophageal squamous(42;0.129)	2174					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	ENST00000255674.6	37	c.6521A>G	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.151582	0.78001	.	.	ENSG00000176225	ENST00000255674	T	0.46819	0.86	5.1	5.1	0.69264	Armadillo-like helical (1);Armadillo-type fold (1);	0.147231	0.44902	D	0.000419	T	0.53302	0.1788	L	0.48642	1.525	0.80722	D	1	D	0.55605	0.972	P	0.52159	0.691	T	0.57929	-0.7726	10	0.72032	D	0.01	.	14.8325	0.70159	0.0:0.0:0.0:1.0	.	2174	Q86VV8	RTTN_HUMAN	R	2174	ENSP00000255674:Q2174R	ENSP00000255674:Q2174R	Q	-	2	0	RTTN	65824601	1.000000	0.71417	0.946000	0.38457	0.930000	0.56654	4.674000	0.61612	2.053000	0.61076	0.477000	0.44152	CAG		0.408	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		10	27	0	0	0	1	0	10	27				
DFNB31	25861	broad.mit.edu	37	9	117266866	117266866	+	Silent	SNP	G	G	A	rs374078599		TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr9:117266866G>A	ENST00000362057.3	-	1	384	c.216C>T	c.(214-216)ttC>ttT	p.F72F	DFNB31_ENST00000265134.6_5'Flank|DFNB31_ENST00000374057.3_Silent_p.F72F|DFNB31_ENST00000480518.1_5'Flank	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	72					inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCACCAGGTCGAAGACGTTGC	0.687																																						ENST00000362057.3																			0				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(214-216)ttC>ttT		deafness, autosomal recessive 31							42.0	36.0	38.0					9																	117266866		2202	4299	6501	SO:0001819	synonymous_variant	25861				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium		g.chr9:117266866G>A	AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"""whirlin"""	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.216C>T	9.37:g.117266866G>A						DFNB31_ENST00000374057.3_Silent_p.F72F	p.F72F	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN			1	384	-			72					A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Silent	SNP	ENST00000362057.3	37	c.216C>T	CCDS6806.1																																																																																				0.687	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053776.2	NM_015404		24	12	0	0	0	1	0	24	12				
AP4B1	10717	broad.mit.edu	37	1	114438918	114438918	+	Missense_Mutation	SNP	C	C	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr1:114438918C>A	ENST00000369569.1	-	8	1752	c.1472G>T	c.(1471-1473)tGc>tTc	p.C491F	AP4B1_ENST00000462591.1_5'UTR|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000256658.4_Missense_Mutation_p.C491F|AP4B1_ENST00000369567.1_Missense_Mutation_p.C323F	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	491					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATGTCCTGGCACTCAGCAGG	0.438																																						ENST00000369569.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25						c.(1471-1473)tGc>tTc		adaptor-related protein complex 4, beta 1 subunit							124.0	124.0	124.0					1																	114438918		2203	4300	6503	SO:0001583	missense	10717				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	g.chr1:114438918C>A	AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"""beta 4 subunit of AP-4"""	607245	"""spastic paraplegia 47"""	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.1472G>T	1.37:g.114438918C>A	ENSP00000358582:p.Cys491Phe					AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000256658.4_Missense_Mutation_p.C491F|AP4B1_ENST00000462591.1_5'UTR|AP4B1_ENST00000369567.1_Missense_Mutation_p.C323F	p.C491F	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	8	1752	-	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	491					B7Z4X3|Q59EJ4|Q96CL6	Missense_Mutation	SNP	ENST00000369569.1	37	c.1472G>T	CCDS865.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.026639	0.75390	.	.	ENSG00000134262	ENST00000369567;ENST00000369569;ENST00000256658	T;T;T	0.11821	2.74;2.74;2.74	6.04	6.04	0.98038	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.135458	0.64402	D	0.000002	T	0.26738	0.0654	L	0.54323	1.7	0.80722	D	1	D;D;D;D	0.67145	0.996;0.992;0.996;0.992	P;P;D;P	0.65233	0.859;0.895;0.933;0.86	T	0.00303	-1.1833	10	0.62326	D	0.03	.	20.5948	0.99439	0.0:1.0:0.0:0.0	.	491;323;491;392	B2RBF6;B1ALD0;Q9Y6B7;B4DTG3	.;.;AP4B1_HUMAN;.	F	323;491;491	ENSP00000358580:C323F;ENSP00000358582:C491F;ENSP00000256658:C491F	ENSP00000256658:C491F	C	-	2	0	AP4B1	114240441	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.932000	0.63476	2.873000	0.98535	0.563000	0.77884	TGC		0.438	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	NM_006594		20	45	1	0	1.64113e-05	1	1.81389e-05	20	45				
WBP11P1	441818	broad.mit.edu	37	18	30092789	30092789	+	RNA	SNP	C	C	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr18:30092789C>T	ENST00000567636.1	+	0	1164					NR_003558.1				WW domain binding protein 11 pseudogene 1																		CTTCAAGCCACGATGCTTCGT	0.428																																						ENST00000567636.1																			0																																																			441818							g.chr18:30092789C>T	BC059403		18q12.1	2007-05-15				ENSG00000260389			26250	pseudogene	pseudogene							Standard	NR_003558		Approved	HsT3017	uc010dmc.3				18.37:g.30092789C>T								NR_003558.1						0	1164	+									RNA	SNP	ENST00000567636.1	37																																																																																						0.428	WBP11P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000435119.1			8	40	0	0	0	1	0	8	40				
CLSPN	63967	broad.mit.edu	37	1	36211157	36211157	+	Missense_Mutation	SNP	G	G	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr1:36211157G>A	ENST00000318121.3	-	16	2918	c.2861C>T	c.(2860-2862)tCc>tTc	p.S954F	CLSPN_ENST00000520551.1_Missense_Mutation_p.S901F|CLSPN_ENST00000373220.3_Missense_Mutation_p.S890F|RP11-435D7.3_ENST00000373226.2_RNA|CLSPN_ENST00000251195.5_Missense_Mutation_p.S954F	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	954					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GGCTGGAGTGGAGGCATCTAC	0.453																																						ENST00000251195.5																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(2860-2862)tCc>tTc		claspin							109.0	92.0	97.0					1																	36211157		2203	4300	6503	SO:0001583	missense	63967				activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding	g.chr1:36211157G>A	AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"""claspin homolog (Xenopus laevis)"""			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000318121.3:c.2861C>T	1.37:g.36211157G>A	ENSP00000312995:p.Ser954Phe					CLSPN_ENST00000318121.3_Missense_Mutation_p.S954F|CLSPN_ENST00000373220.3_Missense_Mutation_p.S890F|CLSPN_ENST00000520551.1_Missense_Mutation_p.S901F	p.S954F			Q9HAW4	CLSPN_HUMAN			16	2957	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	954					A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Missense_Mutation	SNP	ENST00000318121.3	37	c.2861C>T	CCDS396.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.772188	0.31411	.	.	ENSG00000092853	ENST00000251195;ENST00000318121;ENST00000373220;ENST00000520551	T;T;T;T	0.26223	1.75;1.76;1.78;1.78	5.86	4.95	0.65309	.	0.268582	0.39407	N	0.001364	T	0.44726	0.1307	L	0.60455	1.87	0.22903	N	0.998581	D;D	0.71674	0.996;0.998	P;D	0.64877	0.896;0.93	T	0.34850	-0.9812	10	0.59425	D	0.04	-2.18	13.8039	0.63218	0.0709:0.0:0.9291:0.0	.	890;954	Q9HAW4-2;Q9HAW4	.;CLSPN_HUMAN	F	954;954;890;901	ENSP00000251195:S954F;ENSP00000312995:S954F;ENSP00000362317:S890F;ENSP00000428848:S901F	ENSP00000251195:S954F	S	-	2	0	CLSPN	35983744	1.000000	0.71417	0.061000	0.19648	0.058000	0.15608	6.696000	0.74598	1.625000	0.50366	-0.157000	0.13467	TCC		0.453	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377857.1	NM_022111		11	17	0	0	0	1	0	11	17				
VRTN	55237	broad.mit.edu	37	14	74824664	74824664	+	Missense_Mutation	SNP	C	C	T	rs138416499	byFrequency	TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr14:74824664C>T	ENST00000256362.4	+	2	1419	c.1178C>T	c.(1177-1179)gCg>gTg	p.A393V		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	393					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						TCCGCACTGGCGGTGTCAAGC	0.617																																						ENST00000256362.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(1177-1179)gCg>gTg		vertebrae development associated			VAL/ALA	0,4406		0,0,2203	80.0	71.0	74.0		1178	2.8	0.0	14	dbSNP_134	74	2,8598	2.2+/-6.3	0,2,4298	yes	missense	VRTN	NM_018228.2	64	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	393/703	74824664	2,13004	2203	4300	6503	SO:0001583	missense	55237				transposition, DNA-mediated		DNA binding|transposase activity	g.chr14:74824664C>T	AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 115"", ""vertebrae development homolog (pig)"""	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.1178C>T	14.37:g.74824664C>T	ENSP00000256362:p.Ala393Val						p.A393V	NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN			2	1419	+			393					Q9NVC7	Missense_Mutation	SNP	ENST00000256362.4	37	c.1178C>T	CCDS9830.1	.	.	.	.	.	.	.	.	.	.	C	9.635	1.137563	0.21123	0.0	2.33E-4	ENSG00000133980	ENST00000256362	T	0.45668	0.89	4.8	2.82	0.32997	.	0.738630	0.12165	N	0.493563	T	0.21674	0.0522	N	0.24115	0.695	0.09310	N	1	P	0.35844	0.524	B	0.23018	0.043	T	0.07520	-1.0768	10	0.33940	T	0.23	-5.5758	5.6744	0.17741	0.2917:0.6053:0.0:0.103	.	393	Q9H8Y1	VRTN_HUMAN	V	393	ENSP00000256362:A393V	ENSP00000256362:A393V	A	+	2	0	VRTN	73894417	0.003000	0.15002	0.004000	0.12327	0.016000	0.09150	0.626000	0.24492	1.247000	0.43917	0.556000	0.70494	GCG		0.617	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228		9	81	0	0	0	1	0	9	81				
SERPINA4	5267	broad.mit.edu	37	14	95034592	95034592	+	Silent	SNP	C	C	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr14:95034592C>T	ENST00000557004.1	+	4	1471	c.1050C>T	c.(1048-1050)ggC>ggT	p.G350G	SERPINA4_ENST00000555095.1_Silent_p.G350G|SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Silent_p.G350G			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	350					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		ACTTATCCGGCATCACCAAAC	0.512																																						ENST00000557004.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46						c.(1048-1050)ggC>ggT		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4							78.0	75.0	76.0					14																	95034592		2203	4300	6503	SO:0001819	synonymous_variant	5267				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chr14:95034592C>T	L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"""Serine (or cysteine) peptidase inhibitors"""	8948	protein-coding gene	gene with protein product		147935	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"""	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.1050C>T	14.37:g.95034592C>T						SERPINA4_ENST00000555095.1_Silent_p.G350G|SERPINA4_ENST00000298841.5_Silent_p.G350G|SERPINA5_ENST00000553780.1_Intron	p.G350G			P29622	KAIN_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	4	1471	+			350					Q53XB5|Q86TR9|Q96BZ5	Silent	SNP	ENST00000557004.1	37	c.1050C>T	CCDS9927.1																																																																																				0.512	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410718.1	NM_006215		14	54	0	0	0	1	0	14	54				
TSHZ3	57616	broad.mit.edu	37	19	31770591	31770591	+	Silent	SNP	C	C	T	rs191399852		TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr19:31770591C>T	ENST00000240587.4	-	2	435	c.108G>A	c.(106-108)acG>acA	p.T36T		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	36					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CTCCATCTGCCGTATGCTCCT	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		15769	0.001		0.0	False		,,,				2504	0.0					ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(106-108)acG>acA		teashirt zinc finger homeobox 3							54.0	55.0	55.0					19																	31770591		1961	4159	6120	SO:0001819	synonymous_variant	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31770591C>T	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.108G>A	19.37:g.31770591C>T							p.T36T	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	435	-	Esophageal squamous(110;0.226)		36					Q9H0G6|Q9P254	Silent	SNP	ENST00000240587.4	37	c.108G>A	CCDS12421.2																																																																																				0.597	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		21	18	0	0	0	1	0	21	18				
CPT1C	126129	broad.mit.edu	37	19	50208484	50208484	+	Missense_Mutation	SNP	G	G	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr19:50208484G>A	ENST00000392518.4	+	10	1265	c.893G>A	c.(892-894)gGa>gAa	p.G298E	CPT1C_ENST00000405931.2_Missense_Mutation_p.G287E|CPT1C_ENST00000354199.5_Missense_Mutation_p.G298E|CPT1C_ENST00000598293.1_Missense_Mutation_p.G298E|CPT1C_ENST00000323446.5_Missense_Mutation_p.G298E	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	298					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		TTGCTGATGGGAATGCGCCCC	0.587																																						ENST00000392518.4																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(892-894)gGa>gAa		carnitine palmitoyltransferase 1C							152.0	139.0	144.0					19																	50208484		2203	4300	6503	SO:0001583	missense	126129				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr19:50208484G>A	AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.893G>A	19.37:g.50208484G>A	ENSP00000376303:p.Gly298Glu					CPT1C_ENST00000405931.2_Missense_Mutation_p.G287E|CPT1C_ENST00000354199.5_Missense_Mutation_p.G298E|CPT1C_ENST00000323446.5_Missense_Mutation_p.G298E|CPT1C_ENST00000598293.1_Missense_Mutation_p.G298E	p.G298E	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)	10	1265	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	298					A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Missense_Mutation	SNP	ENST00000392518.4	37	c.893G>A	CCDS12779.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.834440	0.50951	.	.	ENSG00000169169	ENST00000392518;ENST00000354199;ENST00000405931;ENST00000323446;ENST00000295404	D;D;D;D	0.90385	-2.66;-2.66;-2.66;-2.66	4.34	3.27	0.37495	.	0.289314	0.25060	N	0.033441	D	0.93719	0.7993	M	0.85859	2.78	0.39723	D	0.971498	D;P;P;B	0.59357	0.985;0.753;0.511;0.347	P;B;B;B	0.61275	0.886;0.349;0.287;0.292	D	0.92688	0.6164	10	0.49607	T	0.09	-8.637	7.2745	0.26275	0.1295:0.0:0.8705:0.0	.	169;298;287;298	C9IY45;Q8TCG5-3;Q8TCG5-2;Q8TCG5	.;.;.;CPT1C_HUMAN	E	298;298;287;298;169	ENSP00000376303:G298E;ENSP00000346138:G298E;ENSP00000384465:G287E;ENSP00000319343:G298E	ENSP00000295404:G169E	G	+	2	0	CPT1C	54900296	0.952000	0.32445	1.000000	0.80357	0.972000	0.66771	0.923000	0.28757	1.008000	0.39264	0.561000	0.74099	GGA		0.587	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	NM_152359		33	88	0	0	0	1	0	33	88				
FYCO1	79443	broad.mit.edu	37	3	46009275	46009275	+	Silent	SNP	G	G	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr3:46009275G>A	ENST00000296137.2	-	8	1756	c.1551C>T	c.(1549-1551)ttC>ttT	p.F517F	FYCO1_ENST00000535325.1_Silent_p.F517F	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	517					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		GGGTCTCCAGGAACTGCAGCT	0.582																																						ENST00000296137.2																			0				NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54						c.(1549-1551)ttC>ttT		FYVE and coiled-coil domain containing 1							91.0	93.0	92.0					3																	46009275		2203	4300	6503	SO:0001819	synonymous_variant	79443				transport	integral to membrane	metal ion binding|protein binding	g.chr3:46009275G>A	AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"""Zinc fingers, FYVE domain containing"""	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.1551C>T	3.37:g.46009275G>A						FYCO1_ENST00000535325.1_Silent_p.F517F	p.F517F	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)	8	1756	-			517					B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Silent	SNP	ENST00000296137.2	37	c.1551C>T	CCDS2734.1																																																																																				0.582	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513		33	100	0	0	0	1	0	33	100				
PLCG2	5336	broad.mit.edu	37	16	81927367	81927367	+	Missense_Mutation	SNP	G	G	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr16:81927367G>A	ENST00000359376.3	+	12	1254	c.1040G>A	c.(1039-1041)cGc>cAc	p.R347H		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	347	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GCTTACATCCGCTGCCTGCGC	0.587																																						ENST00000359376.3																			0				NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						c.(1039-1041)cGc>cAc		phospholipase C, gamma 2 (phosphatidylinositol-specific)							67.0	69.0	69.0					16																	81927367		2183	4287	6470	SO:0001583	missense	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81927367G>A		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.1040G>A	16.37:g.81927367G>A	ENSP00000352336:p.Arg347His						p.R347H	NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN			12	1254	+			347			PI-PLC X-box.		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	ENST00000359376.3	37	c.1040G>A	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025819	0.93518	.	.	ENSG00000197943	ENST00000359376	T	0.64085	-0.08	3.71	3.71	0.42584	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.146689	0.51477	D	0.000092	T	0.77205	0.4096	M	0.85859	2.78	0.80722	D	1	D;D	0.54047	0.964;0.961	P;P	0.56216	0.456;0.794	D	0.83576	0.0115	10	0.87932	D	0	.	16.357	0.83239	0.0:0.0:1.0:0.0	.	214;347	B4E3H3;P16885	.;PLCG2_HUMAN	H	347	ENSP00000352336:R347H	ENSP00000352336:R347H	R	+	2	0	PLCG2	80484868	1.000000	0.71417	0.998000	0.56505	0.837000	0.47467	9.618000	0.98365	2.034000	0.60081	0.467000	0.42956	CGC		0.587	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			10	70	0	0	0	1	0	10	70				
RPA4	29935	broad.mit.edu	37	X	96139780	96139780	+	Missense_Mutation	SNP	T	T	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chrX:96139780T>A	ENST00000373040.3	+	1	874	c.471T>A	c.(469-471)caT>caA	p.H157Q	DIAPH2_ENST00000355827.4_Intron|DIAPH2_ENST00000373049.4_Intron|DIAPH2_ENST00000373061.3_Intron|DIAPH2_ENST00000324765.8_Intron|DIAPH2_ENST00000373054.4_Intron	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN	replication protein A4, 30kDa	157					DNA damage checkpoint (GO:0000077)|DNA recombination (GO:0006310)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)	DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						TCACCGTGCATATTCTGGAAA	0.453								Other identified genes with known or suspected DNA repair function																														ENST00000373040.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						c.(469-471)caT>caA	Other identified genes with known or suspected DNA repair function	replication protein A4, 30kDa							131.0	107.0	115.0					X																	96139780		2203	4300	6503	SO:0001583	missense	29935				DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding	g.chrX:96139780T>A	U24186	CCDS35345.1	Xq21	2010-04-09	2010-04-09		ENSG00000204086	ENSG00000204086			30305	protein-coding gene	gene with protein product		300767	"""replication protein A4, 34kDa"""			7760808	Standard	NM_013347		Approved	HSU24186	uc004efv.4	Q13156	OTTHUMG00000021987	ENST00000373040.3:c.471T>A	X.37:g.96139780T>A	ENSP00000362131:p.His157Gln					DIAPH2_ENST00000373049.4_Intron|DIAPH2_ENST00000373054.4_Intron|DIAPH2_ENST00000324765.8_Intron|DIAPH2_ENST00000373061.3_Intron|DIAPH2_ENST00000355827.4_Intron	p.H157Q	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN			1	874	+			157					Q3SY03	Missense_Mutation	SNP	ENST00000373040.3	37	c.471T>A	CCDS35345.1	.	.	.	.	.	.	.	.	.	.	T	14.60	2.582932	0.46006	.	.	ENSG00000204086	ENST00000373040	T	0.53206	0.63	3.81	-2.6	0.06190	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.62913	0.2467	M	0.75150	2.29	0.09310	N	1	D	0.76494	0.999	D	0.79784	0.993	T	0.57260	-0.7842	9	0.87932	D	0	-32.5541	9.3766	0.38286	0.0:0.6096:0.0:0.3904	.	157	Q13156	RFA4_HUMAN	Q	157	ENSP00000362131:H157Q	ENSP00000362131:H157Q	H	+	3	2	RPA4	96026436	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-0.525000	0.06214	-0.727000	0.04888	-0.323000	0.08544	CAT		0.453	RPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057464.1	NM_013347		18	79	0	0	0	1	0	18	79				
HERC1	8925	broad.mit.edu	37	15	63948379	63948379	+	Missense_Mutation	SNP	T	T	C			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr15:63948379T>C	ENST00000443617.2	-	49	9865	c.9778A>G	c.(9778-9780)Atc>Gtc	p.I3260V		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3260					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AGGCAAGAGATAGGCTTGTTA	0.542																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(9778-9780)Atc>Gtc		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							43.0	45.0	44.0					15																	63948379		1997	4164	6161	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63948379T>C	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.9778A>G	15.37:g.63948379T>C	ENSP00000390158:p.Ile3260Val						p.I3260V	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			49	9865	-			3260					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.9778A>G	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	T	18.97	3.735160	0.69189	.	.	ENSG00000103657	ENST00000443617	T	0.24350	1.86	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.37945	0.1022	L	0.44542	1.39	0.58432	D	0.999997	P	0.43314	0.803	P	0.58873	0.847	T	0.05370	-1.0889	10	0.17369	T	0.5	.	14.5541	0.68089	0.0:0.0:0.0:1.0	.	3260	Q15751	HERC1_HUMAN	V	3260	ENSP00000390158:I3260V	ENSP00000390158:I3260V	I	-	1	0	HERC1	61735432	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.722000	0.84778	1.898000	0.54952	0.533000	0.62120	ATC		0.542	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		4	9	0	0	0	1	0	4	9				
FAM135B	51059	broad.mit.edu	37	8	139164619	139164619	+	Missense_Mutation	SNP	G	G	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr8:139164619G>A	ENST00000395297.1	-	13	2269	c.2099C>T	c.(2098-2100)gCc>gTc	p.A700V		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	700										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CCTGCTTCGGGCCTCTGACCA	0.557										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(2098-2100)gCc>gTc		family with sequence similarity 135, member B							47.0	48.0	48.0					8																	139164619		1924	4116	6040	SO:0001583	missense	51059							g.chr8:139164619G>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2099C>T	8.37:g.139164619G>A	ENSP00000378710:p.Ala700Val	HNSCC(54;0.14)					p.A700V	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	2269	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		700					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.2099C>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	15.38	2.817678	0.50633	.	.	ENSG00000147724	ENST00000395297	T	0.17213	2.29	5.65	4.78	0.61160	.	0.209202	0.42821	N	0.000646	T	0.13157	0.0319	L	0.34521	1.04	0.33557	D	0.596923	B;B;B	0.32203	0.36;0.232;0.015	B;B;B	0.32022	0.139;0.099;0.018	T	0.19289	-1.0310	10	0.34782	T	0.22	-17.7462	9.9584	0.41682	0.1528:0.0:0.8472:0.0	.	700;700;700	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	V	700	ENSP00000378710:A700V	ENSP00000276737:A700V	A	-	2	0	FAM135B	139233801	0.981000	0.34729	0.788000	0.31933	0.926000	0.56050	1.969000	0.40510	1.412000	0.46977	0.655000	0.94253	GCC		0.557	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		46	41	0	0	0	1	0	46	41				
KIAA1024	23251	broad.mit.edu	37	15	79760681	79760681	+	Silent	SNP	C	C	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr15:79760681C>T	ENST00000305428.3	+	4	2781	c.2706C>T	c.(2704-2706)acC>acT	p.T902T		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	902						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						CGGCATGCACCGTCATCCTCG	0.463																																						ENST00000305428.3																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						c.(2704-2706)acC>acT		KIAA1024							79.0	68.0	72.0					15																	79760681		2196	4293	6489	SO:0001819	synonymous_variant	23251					integral to membrane		g.chr15:79760681C>T	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.2706C>T	15.37:g.79760681C>T							p.T902T	NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN			4	2781	+			902					A7MD43	Silent	SNP	ENST00000305428.3	37	c.2706C>T	CCDS32306.1																																																																																				0.463	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		13	22	0	0	0	1	0	13	22				
ABCC1	4363	broad.mit.edu	37	16	16205396	16205396	+	Silent	SNP	G	G	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr16:16205396G>A	ENST00000399410.3	+	22	3211	c.3036G>A	c.(3034-3036)acG>acA	p.T1012T	ABCC1_ENST00000345148.5_Silent_p.T1012T|ABCC1_ENST00000351154.5_Silent_p.T953T|ABCC1_ENST00000346370.5_Silent_p.T956T|ABCC1_ENST00000349029.5_Silent_p.T897T|ABCC1_ENST00000399408.2_Silent_p.T1022T	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1012	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	AGGAGCACACGAAAGTCCGGC	0.567																																						ENST00000399408.2																			0				breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56						c.(3064-3066)acG>acA		ATP-binding cassette, sub-family C (CFTR/MRP), member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						76.0	79.0	78.0					16																	16205396		1991	4166	6157	SO:0001819	synonymous_variant	4363				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16205396G>A	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.3036G>A	16.37:g.16205396G>A						ABCC1_ENST00000349029.5_Silent_p.T897T|ABCC1_ENST00000351154.5_Silent_p.T953T|ABCC1_ENST00000345148.5_Silent_p.T1012T|ABCC1_ENST00000346370.5_Silent_p.T956T|ABCC1_ENST00000399410.3_Silent_p.T1012T	p.T1022T			P33527	MRP1_HUMAN			23	3241	+			1012			ABC transmembrane type-1 2.		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Silent	SNP	ENST00000399410.3	37	c.3066G>A	CCDS42122.1																																																																																				0.567	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		24	39	0	0	0	1	0	24	39				
OSTCP1	202459	broad.mit.edu	37	6	159262735	159262735	+	RNA	SNP	G	G	A	rs567077443|rs73013670|rs573341013	byFrequency	TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr6:159262735G>A	ENST00000522287.1	-	0	608					NR_028496.1				oligosaccharyltransferase complex subunit pseudogene 1																		CCATCAGATAGCCCTTCTCAA	0.418													G|||	523	0.104433	0.1906	0.0677	5008	,	,		17544	0.001		0.1272	False		,,,				2504	0.0971					ENST00000522287.1																			0																				72.0	76.0	74.0					6																	159262735		2203	4300	6503			202459							g.chr6:159262735G>A	BC024224		6q25.3	2011-09-02	2011-09-02	2011-09-02	ENSG00000243775	ENSG00000243775			30530	pseudogene	pseudogene	"""DC2 protein-like"""		"""oligosaccharyltransferase complex subunit-like"""	OSTCL		12477932	Standard	NR_028496		Approved	DC2L	uc003qrw.4		OTTHUMG00000015919		6.37:g.159262735G>A								NR_028496.1						0	608	-									RNA	SNP	ENST00000522287.1	37																																																																																						0.418	OSTCP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000042884.2	NM_145303		5	63	0	0	0	1	0	5	63				
PGAM1	5223	broad.mit.edu	37	10	99192246	99192246	+	Missense_Mutation	SNP	G	G	C			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr10:99192246G>C	ENST00000334828.5	+	4	878	c.730G>C	c.(730-732)Gaa>Caa	p.E244Q	PGAM1_ENST00000467867.1_3'UTR	NM_002629.2	NP_002620.1	P18669	PGAM1_HUMAN	phosphoglycerate mutase 1 (brain)	244					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|regulation of glycolytic process (GO:0006110)|regulation of pentose-phosphate shunt (GO:0043456)|respiratory burst (GO:0045730)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|phosphoglycerate mutase activity (GO:0004619)|protein kinase binding (GO:0019901)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6		Colorectal(252;0.162)		Epithelial(162;8.36e-10)|all cancers(201;5.62e-08)		CAAAGCCATGGAAGCTGTGGC	0.587																																						ENST00000334828.5																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6						c.(730-732)Gaa>Caa		phosphoglycerate mutase 1 (brain)							39.0	40.0	40.0					10																	99192246		2190	4275	6465	SO:0001583	missense	5223				gluconeogenesis|glycolysis|regulation of glycolysis|regulation of pentose-phosphate shunt|respiratory burst	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity|protein kinase binding	g.chr10:99192246G>C	BC010038	CCDS7458.1	10q25.3	2012-10-02			ENSG00000171314	ENSG00000171314	5.4.2.1		8888	protein-coding gene	gene with protein product	"""Phosphoglycerate mutase A, nonmuscle form"""	172250		PGAMA		2846553	Standard	NM_002629		Approved	PGAM-B	uc001knh.3	P18669	OTTHUMG00000018846	ENST00000334828.5:c.730G>C	10.37:g.99192246G>C	ENSP00000359991:p.Glu244Gln					PGAM1_ENST00000467867.1_3'UTR	p.E244Q	NM_002629.2	NP_002620.1	P18669	PGAM1_HUMAN		Epithelial(162;8.36e-10)|all cancers(201;5.62e-08)	4	878	+		Colorectal(252;0.162)	244					Q9BWC0	Missense_Mutation	SNP	ENST00000334828.5	37	c.730G>C	CCDS7458.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.933120	0.92458	.	.	ENSG00000171314	ENST00000334828;ENST00000425387	D	0.81908	-1.55	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.86360	0.5914	L	0.49640	1.575	0.80722	D	1	D;D	0.60575	0.988;0.988	P;P	0.54401	0.751;0.614	D	0.85693	0.1308	10	0.44086	T	0.13	-25.1316	19.4866	0.95032	0.0:0.0:1.0:0.0	.	229;244	B4DKL5;P18669	.;PGAM1_HUMAN	Q	244;134	ENSP00000359991:E244Q	ENSP00000359991:E244Q	E	+	1	0	PGAM1	99182236	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.527000	0.98044	2.683000	0.91414	0.561000	0.74099	GAA		0.587	PGAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049652.1	NM_002629		13	32	0	0	0	1	0	13	32				
OR4K1	79544	broad.mit.edu	37	14	20404665	20404665	+	Silent	SNP	C	C	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr14:20404665C>A	ENST00000285600.4	+	1	899	c.840C>A	c.(838-840)ccC>ccA	p.P280P		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	280						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P280P(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TTTGTACTCCCTTGTTGAACC	0.413																																						ENST00000285600.4																			1	Substitution - coding silent(1)	p.P280P(1)	lung(1)	central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43						c.(838-840)ccC>ccA		olfactory receptor, family 4, subfamily K, member 1							108.0	118.0	115.0					14																	20404665		2203	4300	6503	SO:0001819	synonymous_variant	79544				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20404665C>A		CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"""GPCR / Class A : Olfactory receptors"""	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.840C>A	14.37:g.20404665C>A							p.P280P	NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	899	+	all_cancers(95;0.00108)		280					B9EKV9|Q8NGD6|Q96R73	Silent	SNP	ENST00000285600.4	37	c.840C>A	CCDS32025.1																																																																																				0.413	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409881.1			5	71	1	0	0.000602214	1	0.000641489	5	71				
PEX6	5190	broad.mit.edu	37	6	42932843	42932843	+	Missense_Mutation	SNP	T	T	C			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr6:42932843T>C	ENST00000304611.8	-	15	2705	c.2636A>G	c.(2635-2637)cAg>cGg	p.Q879R	PEX6_ENST00000244546.4_3'UTR	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	879					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)			AACGCGTAGCTGGGAGGCCCG	0.542																																						ENST00000304611.8																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15						c.(2635-2637)cAg>cGg		peroxisomal biogenesis factor 6							95.0	92.0	93.0					6																	42932843		2203	4300	6503	SO:0001583	missense	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.chr6:42932843T>C	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.2636A>G	6.37:g.42932843T>C	ENSP00000303511:p.Gln879Arg					PEX6_ENST00000244546.4_3'UTR	p.Q879R	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)		15	2705	-			879					Q5T8W1|Q8WYQ0|Q8WYQ1|Q8WYQ2|Q99476	Missense_Mutation	SNP	ENST00000304611.8	37	c.2636A>G	CCDS4877.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.749549	0.89753	.	.	ENSG00000124587	ENST00000304611	D	0.93133	-3.17	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.78521	0.4296	N	0.20610	0.595	0.80722	D	1	B	0.28713	0.22	B	0.29353	0.101	T	0.77632	-0.2515	10	0.02654	T	1	-25.9844	15.7272	0.77770	0.0:0.0:0.0:1.0	.	879	Q13608	PEX6_HUMAN	R	879	ENSP00000303511:Q879R	ENSP00000303511:Q879R	Q	-	2	0	PEX6	43040821	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.734000	0.84928	2.196000	0.70406	0.454000	0.30748	CAG		0.542	PEX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040569.1	NM_000287		31	49	0	0	0	1	0	31	49				
CARD10	29775	broad.mit.edu	37	22	37891791	37891791	+	Missense_Mutation	SNP	C	C	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr22:37891791C>A	ENST00000403299.1	-	15	2495	c.2279G>T	c.(2278-2280)cGg>cTg	p.R760L	CARD10_ENST00000251973.5_Missense_Mutation_p.R760L|CARD10_ENST00000406271.3_Missense_Mutation_p.R474L			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	760					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)	receptor signaling complex scaffold activity (GO:0030159)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					CACGGTGCCCCGGTCCAGGTC	0.642																																						ENST00000403299.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17						c.(2278-2280)cGg>cTg		caspase recruitment domain family, member 10							39.0	38.0	38.0					22																	37891791		2203	4300	6503	SO:0001583	missense	29775				activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity	g.chr22:37891791C>A	AF086324	CCDS13948.1	22q13.1	2008-05-22			ENSG00000100065	ENSG00000100065			16422	protein-coding gene	gene with protein product		607209				11259443, 11356195	Standard	NM_014550		Approved	CARMA3, BIMP1	uc003asu.1	Q9BWT7	OTTHUMG00000150592	ENST00000403299.1:c.2279G>T	22.37:g.37891791C>A	ENSP00000384570:p.Arg760Leu					CARD10_ENST00000406271.3_Missense_Mutation_p.R474L|CARD10_ENST00000251973.5_Missense_Mutation_p.R760L	p.R760L			Q9BWT7	CAR10_HUMAN			15	2495	-	Melanoma(58;0.0574)		760					Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Missense_Mutation	SNP	ENST00000403299.1	37	c.2279G>T	CCDS13948.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.259844	0.59321	.	.	ENSG00000100065	ENST00000403299;ENST00000406271;ENST00000251973;ENST00000437756	T;T;T;T	0.42513	0.97;2.66;0.97;1.42	4.98	4.98	0.66077	.	0.276251	0.36002	N	0.002851	T	0.36936	0.0985	L	0.58101	1.795	0.33627	D	0.605588	P;P	0.44090	0.826;0.74	B;B	0.41374	0.247;0.355	T	0.52741	-0.8535	10	0.31617	T	0.26	-34.3624	7.6316	0.28243	0.0:0.8524:0.0:0.1476	.	760;474	Q9BWT7;Q8NC81	CAR10_HUMAN;.	L	760;474;760;401	ENSP00000384570:R760L;ENSP00000385799:R474L;ENSP00000251973:R760L;ENSP00000416239:R401L	ENSP00000251973:R760L	R	-	2	0	CARD10	36221737	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	1.315000	0.33608	2.289000	0.77006	0.561000	0.74099	CGG		0.642	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318997.1	NM_014550		16	23	1	0	8.60227e-14	1	1.04507e-13	16	23				
GRM5	2915	broad.mit.edu	37	11	88338041	88338041	+	Silent	SNP	G	G	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr11:88338041G>A	ENST00000305447.4	-	4	1388	c.1239C>T	c.(1237-1239)aaC>aaT	p.N413N	GRM5_ENST00000305432.5_Silent_p.N413N|GRM5_ENST00000455756.2_Silent_p.N413N|GRM5_ENST00000393297.1_Silent_p.N413N|GRM5_ENST00000418177.2_Silent_p.N413N	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	413					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	ACATCTGCATGTTGTGGAGCC	0.463																																						ENST00000418177.2																			0				NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(1237-1239)aaC>aaT		glutamate receptor, metabotropic 5	Acamprosate(DB00659)						98.0	84.0	88.0					11																	88338041		2201	4299	6500	SO:0001819	synonymous_variant	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88338041G>A	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.1239C>T	11.37:g.88338041G>A						GRM5_ENST00000455756.2_Silent_p.N413N|GRM5_ENST00000305432.5_Silent_p.N413N|GRM5_ENST00000305447.4_Silent_p.N413N|GRM5_ENST00000393297.1_Silent_p.N413N	p.N413N			P41594	GRM5_HUMAN			5	1606	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	413					Q6J164	Silent	SNP	ENST00000305447.4	37	c.1239C>T	CCDS44694.1																																																																																				0.463	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		14	36	0	0	0	1	0	14	36				
AFF2	2334	broad.mit.edu	37	X	147582653	147582653	+	Missense_Mutation	SNP	G	G	C			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chrX:147582653G>C	ENST00000370460.2	+	1	515	c.36G>C	c.(34-36)ttG>ttC	p.L12F	AFF2_ENST00000370458.1_Missense_Mutation_p.L12F|AFF2_ENST00000370457.5_Missense_Mutation_p.L12F|AC002368.4_ENST00000456981.1_RNA|AFF2_ENST00000342251.3_Missense_Mutation_p.L12F	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	12					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					ACTGGGACTTGGAGCAGCAGT	0.592																																						ENST00000370460.2																			0				breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(34-36)ttG>ttC		AF4/FMR2 family, member 2							134.0	109.0	117.0					X																	147582653		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:147582653G>C	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.36G>C	X.37:g.147582653G>C	ENSP00000359489:p.Leu12Phe					AFF2_ENST00000342251.3_Missense_Mutation_p.L12F|AFF2_ENST00000370457.5_Missense_Mutation_p.L12F|AFF2_ENST00000370458.1_Missense_Mutation_p.L12F	p.L12F	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN			1	515	+	Acute lymphoblastic leukemia(192;6.56e-05)		12					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.36G>C	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	g	12.85	2.061184	0.36373	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000370458	T;T;T;T	0.69561	-0.15;-0.41;-0.41;0.85	4.22	2.28	0.28536	.	0.190806	0.24074	U	0.041799	T	0.59307	0.2184	N	0.08118	0	0.80722	D	1	D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.998;0.999	D;D;D;D;D;D	0.87578	0.998;0.998;0.998;0.998;0.994;0.998	T	0.60796	-0.7192	10	0.72032	D	0.01	.	4.3474	0.11139	0.2128:0.0:0.6047:0.1824	.	12;12;12;12;12;12	P51816-6;P51816-3;P51816-2;P51816-5;P51816;P51816-4	.;.;.;.;AFF2_HUMAN;.	F	12	ENSP00000359489:L12F;ENSP00000359486:L12F;ENSP00000345459:L12F;ENSP00000359487:L12F	ENSP00000345459:L12F	L	+	3	2	AFF2	147390345	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.943000	0.40253	0.598000	0.29829	-0.430000	0.05897	TTG		0.592	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		6	41	0	0	0	1	0	6	41				
SMARCA2	6595	broad.mit.edu	37	9	2086964	2086964	+	Missense_Mutation	SNP	C	C	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr9:2086964C>A	ENST00000382203.1	+	18	2871	c.2662C>A	c.(2662-2664)Ctc>Atc	p.L888I	SMARCA2_ENST00000382194.1_Missense_Mutation_p.L888I|SMARCA2_ENST00000357248.2_Missense_Mutation_p.L888I|SMARCA2_ENST00000349721.2_Missense_Mutation_p.L888I			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	888	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|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)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GCAGAATAAGCTCCCTGAACT	0.507																																						ENST00000382203.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(2662-2664)Ctc>Atc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2							102.0	95.0	97.0					9																	2086964		2203	4300	6503	SO:0001583	missense	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2086964C>A	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.2662C>A	9.37:g.2086964C>A	ENSP00000371638:p.Leu888Ile					SMARCA2_ENST00000382194.1_Missense_Mutation_p.L888I|SMARCA2_ENST00000357248.2_Missense_Mutation_p.L888I|SMARCA2_ENST00000349721.2_Missense_Mutation_p.L888I	p.L888I			P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	18	2871	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	888			Helicase ATP-binding.		B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	c.2662C>A	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.638220	0.67130	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194	D;D;D;D	0.94497	-3.44;-3.44;-3.44;-3.44	5.8	3.95	0.45737	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.64402	D	0.000003	D	0.93579	0.7950	M	0.64080	1.96	0.80722	D	1	B;B	0.29936	0.221;0.262	B;B	0.38921	0.187;0.285	D	0.93003	0.6425	10	0.72032	D	0.01	-13.1328	11.2769	0.49172	0.0:0.7926:0.0:0.2074	.	888;888	P51531-2;P51531	.;SMCA2_HUMAN	I	888	ENSP00000265773:L888I;ENSP00000349788:L888I;ENSP00000371638:L888I;ENSP00000371629:L888I	ENSP00000265773:L888I	L	+	1	0	SMARCA2	2076964	1.000000	0.71417	0.997000	0.53966	0.955000	0.61496	3.950000	0.56676	1.473000	0.48159	-0.142000	0.14014	CTC		0.507	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		44	15	1	0	5.44703e-19	1	6.96272e-19	44	15				
THBS4	7060	broad.mit.edu	37	5	79372723	79372723	+	Silent	SNP	C	C	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr5:79372723C>T	ENST00000350881.2	+	16	2128	c.1938C>T	c.(1936-1938)gtC>gtT	p.V646V	CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000511733.1_Silent_p.V555V	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	646			V -> I (in dbSNP:rs2229396). {ECO:0000269|Ref.4}.		behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GCCCCACCGTCATTAACAGTG	0.542																																						ENST00000350881.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34						c.(1936-1938)gtC>gtT		thrombospondin 4							195.0	178.0	184.0					5																	79372723		2203	4300	6503	SO:0001819	synonymous_variant	7060				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	g.chr5:79372723C>T		CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.1938C>T	5.37:g.79372723C>T						CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000511733.1_Silent_p.V555V|CTD-2201I18.1_ENST00000503007.1_RNA	p.V646V	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)	16	2128	+		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)	646		V -> I (in dbSNP:rs2229396).			B2R909|Q86TG2	Silent	SNP	ENST00000350881.2	37	c.1938C>T	CCDS4049.1																																																																																				0.542	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			42	91	0	0	0	1	0	42	91				
PPFIA3	8541	broad.mit.edu	37	19	49631231	49631231	+	Missense_Mutation	SNP	C	C	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr19:49631231C>T	ENST00000334186.4	+	2	450	c.101C>T	c.(100-102)aCg>aTg	p.T34M	PPFIA3_ENST00000602351.1_Missense_Mutation_p.T34M	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	34					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		CTCATGGTCACGATGCTCACG	0.716																																						ENST00000334186.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35						c.(100-102)aCg>aTg		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3							12.0	14.0	13.0					19																	49631231		1977	3959	5936	SO:0001583	missense	8541					cell surface|cytoplasm	protein binding	g.chr19:49631231C>T	AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.101C>T	19.37:g.49631231C>T	ENSP00000335614:p.Thr34Met					PPFIA3_ENST00000602351.1_Missense_Mutation_p.T34M	p.T34M	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)	2	450	+		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	34					A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Missense_Mutation	SNP	ENST00000334186.4	37	c.101C>T	CCDS12758.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.271948	0.80469	.	.	ENSG00000177380	ENST00000334186	T	0.41400	1.0	4.33	4.33	0.51752	.	0.134744	0.31636	N	0.007317	T	0.33147	0.0853	N	0.14661	0.345	0.80722	D	1	D	0.57257	0.979	P	0.50082	0.63	T	0.16808	-1.0390	10	0.87932	D	0	-18.625	9.9529	0.41649	0.3171:0.6829:0.0:0.0	.	34	O75145	LIPA3_HUMAN	M	34	ENSP00000335614:T34M	ENSP00000335614:T34M	T	+	2	0	PPFIA3	54323043	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.837000	0.48191	2.436000	0.82500	0.462000	0.41574	ACG		0.716	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1	NM_003660		11	14	0	0	0	1	0	11	14				
LHFPL5	222662	broad.mit.edu	37	6	35773625	35773625	+	Missense_Mutation	SNP	G	G	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr6:35773625G>A	ENST00000373853.1	+	1	556	c.178G>A	c.(178-180)Ggc>Agc	p.G60S	LHFPL5_ENST00000360215.1_Missense_Mutation_p.G60S			Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	60					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transport (GO:0006811)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						ACCGCAGGCAGGCTACTTCGG	0.602																																						ENST00000360215.1																			0				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						c.(178-180)Ggc>Agc		lipoma HMGIC fusion partner-like 5							239.0	213.0	222.0					6																	35773625		2203	4300	6503	SO:0001583	missense	222662					integral to membrane		g.chr6:35773625G>A	BC028630	CCDS4812.1	6p21.31	2014-01-28				ENSG00000197753			21253	protein-coding gene	gene with protein product		609427	"""deafness, autosomal recessive 67"""	DFNB67		16459341	Standard	NM_182548		Approved	MGC33835, dJ510O8.8, Tmhs	uc003olg.1	Q8TAF8		ENST00000373853.1:c.178G>A	6.37:g.35773625G>A	ENSP00000362960:p.Gly60Ser					LHFPL5_ENST00000373853.1_Missense_Mutation_p.G60S	p.G60S	NM_182548.3	NP_872354.1	Q8TAF8	TMHS_HUMAN			1	555	+			60					B3KX66	Missense_Mutation	SNP	ENST00000373853.1	37	c.178G>A	CCDS4812.1	.	.	.	.	.	.	.	.	.	.	g	36	5.937527	0.97122	.	.	ENSG00000197753	ENST00000373853;ENST00000360215	T;T	0.72505	-0.66;-0.66	5.57	5.57	0.84162	.	0.045092	0.85682	D	0.000000	D	0.84229	0.5426	M	0.90814	3.15	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81682	-0.0822	10	0.20519	T	0.43	-31.8188	19.6056	0.95580	0.0:0.0:1.0:0.0	.	60	Q8TAF8	TMHS_HUMAN	S	60	ENSP00000362960:G60S;ENSP00000353346:G60S	ENSP00000353346:G60S	G	+	1	0	LHFPL5	35881603	1.000000	0.71417	0.971000	0.41717	0.996000	0.88848	9.800000	0.99124	2.640000	0.89533	0.537000	0.68136	GGC		0.602	LHFPL5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040323.1	NM_182548		83	168	0	0	0	1	0	83	168				
PLOD1	5351	broad.mit.edu	37	1	12030858	12030858	+	Silent	SNP	C	C	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr1:12030858C>T	ENST00000196061.4	+	17	1914	c.1887C>T	c.(1885-1887)ccC>ccT	p.P629P	PLOD1_ENST00000376369.3_Silent_p.P676P	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	629					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|extracellular matrix organization (GO:0030198)|hydroxylysine biosynthetic process (GO:0046947)|oxidation-reduction process (GO:0055114)|response to hypoxia (GO:0001666)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Succinic acid(DB00139)|Vitamin C(DB00126)	AGCTCTACCCCGGCTACTACA	0.602																																						ENST00000196061.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(1885-1887)ccC>ccT		procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)						62.0	54.0	57.0					1																	12030858		2203	4300	6503	SO:0001819	synonymous_variant	5351				epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity	g.chr1:12030858C>T	BC016657	CCDS142.1	1p36.22	2011-08-25	2011-08-24	2004-12-14	ENSG00000083444	ENSG00000083444	1.14.11.4		9081	protein-coding gene	gene with protein product	"""lysyl hydroxlase 1"""	153454	"""procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI)"""	LLH, PLOD		1577494	Standard	NM_000302		Approved	LH1	uc001atm.3	Q02809	OTTHUMG00000002393	ENST00000196061.4:c.1887C>T	1.37:g.12030858C>T						PLOD1_ENST00000376369.3_Silent_p.P676P	p.P629P	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	17	1914	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	629					B4DR87|Q96AV9|Q9H132	Silent	SNP	ENST00000196061.4	37	c.1887C>T	CCDS142.1																																																																																				0.602	PLOD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006865.1	NM_000302		23	23	0	0	0	1	0	23	23				
CD1A	909	broad.mit.edu	37	1	158224994	158224994	+	Missense_Mutation	SNP	A	A	G			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr1:158224994A>G	ENST00000289429.5	+	2	712	c.179A>G	c.(178-180)aAt>aGt	p.N60S		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	60					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	TGGGACAGCAATTCCAGCACC	0.488																																						ENST00000289429.5																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32						c.(178-180)aAt>aGt		CD1a molecule	Antithymocyte globulin(DB00098)						132.0	117.0	122.0					1																	158224994		2203	4300	6503	SO:0001583	missense	909				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex		g.chr1:158224994A>G	M28825	CCDS1174.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158477	ENSG00000158477		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1634	protein-coding gene	gene with protein product		188370	"""CD1A antigen, a polypeptide"", ""CD1a antigen"""	CD1		2447586, 2784820	Standard	NM_001763		Approved		uc001frt.3	P06126	OTTHUMG00000017512	ENST00000289429.5:c.179A>G	1.37:g.158224994A>G	ENSP00000289429:p.Asn60Ser						p.N60S	NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN			2	712	+	all_hematologic(112;0.0378)		60					D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Missense_Mutation	SNP	ENST00000289429.5	37	c.179A>G	CCDS1174.1	.	.	.	.	.	.	.	.	.	.	A	9.878	1.200876	0.22121	.	.	ENSG00000158477	ENST00000289429	T	0.06768	3.26	4.54	-6.14	0.02111	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.840953	0.09937	N	0.736446	T	0.01695	0.0054	L	0.42245	1.32	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.45948	-0.9226	10	0.46703	T	0.11	0.0302	3.555	0.07861	0.2797:0.1328:0.4574:0.1301	.	60	P06126	CD1A_HUMAN	S	60	ENSP00000289429:N60S	ENSP00000289429:N60S	N	+	2	0	CD1A	156491618	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.407000	0.02488	-1.138000	0.02884	0.477000	0.44152	AAT		0.488	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046349.2	NM_001763		10	43	0	0	0	1	0	10	43				
AGK	55750	broad.mit.edu	37	7	141351366	141351366	+	Missense_Mutation	SNP	C	C	T	rs142069429		TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr7:141351366C>T	ENST00000355413.4	+	15	1348	c.1088C>T	c.(1087-1089)aCg>aTg	p.T363M	AGK_ENST00000473247.1_Missense_Mutation_p.T335M|AGK_ENST00000535825.1_3'UTR|RP5-894A10.2_ENST00000467537.1_RNA	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	363					ceramide biosynthetic process (GO:0046513)|glycerolipid metabolic process (GO:0046486)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acylglycerol kinase activity (GO:0047620)|ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					GTGGAGGGCACGGAGTGTCTC	0.547													C|||	1	0.000199681	0.0	0.0	5008	,	,		18185	0.0		0.0	False		,,,				2504	0.001					ENST00000355413.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17						c.(1087-1089)aCg>aTg		acylglycerol kinase		C	MET/THR	2,4404	4.2+/-10.8	0,2,2201	107.0	84.0	92.0		1088	5.6	1.0	7	dbSNP_134	92	5,8595	4.3+/-15.6	0,5,4295	yes	missense	AGK	NM_018238.3	81	0,7,6496	TT,TC,CC		0.0581,0.0454,0.0538	possibly-damaging	363/423	141351366	7,12999	2203	4300	6503	SO:0001583	missense	55750				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity	g.chr7:141351366C>T	BC022777	CCDS5865.1	7q34	2010-05-04	2007-01-11	2007-01-11	ENSG00000006530	ENSG00000006530	2.7.1.94		21869	protein-coding gene	gene with protein product		610345	"""multiple substrate lipid kinase"""	MULK		15252046, 15939762, 17135245	Standard	NM_018238		Approved	FLJ10842	uc003vwi.2	Q53H12	OTTHUMG00000157499	ENST00000355413.4:c.1088C>T	7.37:g.141351366C>T	ENSP00000347581:p.Thr363Met					AGK_ENST00000535825.1_3'UTR|AGK_ENST00000473247.1_Missense_Mutation_p.T335M	p.T363M	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN			15	1348	+	Melanoma(164;0.0171)		363					Q75KN1|Q96GC3|Q9NP48	Missense_Mutation	SNP	ENST00000355413.4	37	c.1088C>T	CCDS5865.1	.	.	.	.	.	.	.	.	.	.	C	9.732	1.162645	0.21538	4.54E-4	5.81E-4	ENSG00000006530	ENST00000355413;ENST00000473247	T;T	0.13657	2.57;2.57	5.61	5.61	0.85477	.	0.354959	0.35235	N	0.003356	T	0.11623	0.0283	L	0.34521	1.04	0.80722	D	1	B	0.28636	0.218	B	0.21546	0.035	T	0.04307	-1.0961	10	0.49607	T	0.09	.	13.1664	0.59573	0.0:0.84:0.16:0.0	.	363	Q53H12	AGK_HUMAN	M	363;335	ENSP00000347581:T363M;ENSP00000420776:T335M	ENSP00000347581:T363M	T	+	2	0	AGK	140997835	0.991000	0.36638	1.000000	0.80357	0.004000	0.04260	3.010000	0.49559	2.793000	0.96121	0.655000	0.94253	ACG		0.547	AGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348969.1	NM_018238		6	39	0	0	0	1	0	6	39				
BMP5	653	broad.mit.edu	37	6	55638975	55638975	+	Missense_Mutation	SNP	A	A	C			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr6:55638975A>C	ENST00000370830.3	-	4	1597	c.899T>G	c.(898-900)tTc>tGc	p.F300C	BMP5_ENST00000446683.2_Missense_Mutation_p.F300C	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	300					cartilage development (GO:0051216)|growth (GO:0040007)|male genitalia development (GO:0030539)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of steroid biosynthetic process (GO:0010894)|ossification (GO:0001503)|pattern specification process (GO:0007389)|positive regulation of dendrite development (GO:1900006)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)|type B pancreatic cell development (GO:0003323)	extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			GGCCACCATGAATGGTTGTTT	0.443																																						ENST00000370830.3																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45						c.(898-900)tTc>tGc		bone morphogenetic protein 5							207.0	184.0	191.0					6																	55638975		2203	4300	6503	SO:0001583	missense	653				cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr6:55638975A>C		CCDS4958.1	6p12.1	2014-01-30			ENSG00000112175	ENSG00000112175		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1072	protein-coding gene	gene with protein product		112265				1427904, 11580864	Standard	NM_021073		Approved		uc003pcq.3	P22003	OTTHUMG00000014903	ENST00000370830.3:c.899T>G	6.37:g.55638975A>C	ENSP00000359866:p.Phe300Cys					BMP5_ENST00000446683.2_Missense_Mutation_p.F300C	p.F300C	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		4	1597	-	Lung NSC(77;0.0462)		300					B4E0Y4|Q9H547|Q9NTM5	Missense_Mutation	SNP	ENST00000370830.3	37	c.899T>G	CCDS4958.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.274445	0.80580	.	.	ENSG00000112175	ENST00000370830;ENST00000446683	T;T	0.71341	-0.56;-0.56	5.74	5.74	0.90152	Transforming growth factor-beta, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.83834	0.5340	M	0.87038	2.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87158	0.2213	10	0.87932	D	0	.	16.0486	0.80740	1.0:0.0:0.0:0.0	.	300;300	B4E0Y4;P22003	.;BMP5_HUMAN	C	300	ENSP00000359866:F300C;ENSP00000391818:F300C	ENSP00000359866:F300C	F	-	2	0	BMP5	55746934	1.000000	0.71417	0.992000	0.48379	0.814000	0.46013	8.958000	0.93099	2.183000	0.69458	0.533000	0.62120	TTC		0.443	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041000.1			38	48	0	0	0	1	0	38	48				
CXorf67	340602	broad.mit.edu	37	X	51150073	51150073	+	Missense_Mutation	SNP	G	G	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chrX:51150073G>A	ENST00000342995.2	+	1	307	c.205G>A	c.(205-207)Gct>Act	p.A69T				Q86X51	CX067_HUMAN	chromosome X open reading frame 67	69										breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						CGGTTCTTCCGCTGCAGCCGC	0.637																																						ENST00000342995.2																			0				breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						c.(205-207)Gct>Act		chromosome X open reading frame 67							21.0	20.0	21.0					X																	51150073		2203	4296	6499	SO:0001583	missense	340602							g.chrX:51150073G>A	BC046248		Xp11.22	2014-04-30			ENSG00000187690	ENSG00000187690			33738	protein-coding gene	gene with protein product						23959973	Standard	XR_113306		Approved			Q86X51	OTTHUMG00000187481	ENST00000342995.2:c.205G>A	X.37:g.51150073G>A	ENSP00000342680:p.Ala69Thr						p.A69T							1	307	+									Missense_Mutation	SNP	ENST00000342995.2	37	c.205G>A		.	.	.	.	.	.	.	.	.	.	G	7.185	0.590376	0.13812	.	.	ENSG00000187690	ENST00000342995	T	0.48836	0.8	1.54	-3.09	0.05331	.	19.100000	0.00166	N	0.000018	T	0.29288	0.0729	.	.	.	0.09310	N	1	D	0.57899	0.981	B	0.35413	0.202	T	0.40421	-0.9564	9	0.33940	T	0.23	0.6542	7.7761	0.29037	0.0:0.0:0.7061:0.2939	.	69	Q86X51	CX067_HUMAN	T	69	ENSP00000342680:A69T	ENSP00000342680:A69T	A	+	1	0	CXorf67	51166813	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.071000	0.11505	-1.136000	0.02892	0.292000	0.19580	GCT		0.637	CXorf67-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_203407		28	14	0	0	0	1	0	28	14				
NLRP5	126206	broad.mit.edu	37	19	56552435	56552435	+	Silent	SNP	C	C	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr19:56552435C>A	ENST00000390649.3	+	11	2934	c.2934C>A	c.(2932-2934)ccC>ccA	p.P978P		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	978					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)	p.P978P(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TGAGGCTTCCCCACTGTAGTC	0.532																																						ENST00000390649.3																			1	Substitution - coding silent(1)	p.P978P(1)	lung(1)	breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25						c.(2932-2934)ccC>ccA		NLR family, pyrin domain containing 5							207.0	202.0	203.0					19																	56552435		2048	4207	6255	SO:0001819	synonymous_variant	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56552435C>A	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.2934C>A	19.37:g.56552435C>A							p.P978P	NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	11	2934	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	978					A8MTY4|Q86W29	Silent	SNP	ENST00000390649.3	37	c.2934C>A	CCDS12938.1																																																																																				0.532	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		25	99	1	0	0.00047179	1	0.000509949	25	99				
UNC93A	54346	broad.mit.edu	37	6	167708120	167708120	+	Missense_Mutation	SNP	A	A	G			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr6:167708120A>G	ENST00000230256.3	+	2	378	c.203A>G	c.(202-204)aAg>aGg	p.K68R	UNC93A_ENST00000366829.2_Missense_Mutation_p.K68R|UNC93A_ENST00000366830.2_3'UTR	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CTGGGCTGCAAGGGGACCATC	0.647																																						ENST00000230256.3																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40						c.(202-204)aAg>aGg		unc-93 homolog A (C. elegans)							273.0	240.0	251.0					6																	167708120		2203	4300	6503	SO:0001583	missense	54346					integral to membrane|plasma membrane		g.chr6:167708120A>G	AJ508812	CCDS5300.1, CCDS47515.1	6q27	2014-05-16	2001-11-28		ENSG00000112494	ENSG00000112494			12570	protein-coding gene	gene with protein product		607995	"""unc93 (C.elegans) homolog A"""			12381271	Standard	NM_001143947		Approved	dJ366N23.2, dJ366N23.1	uc003qvq.3	Q86WB7	OTTHUMG00000016021	ENST00000230256.3:c.203A>G	6.37:g.167708120A>G	ENSP00000230256:p.Lys68Arg					UNC93A_ENST00000366830.2_3'UTR|UNC93A_ENST00000366829.2_Missense_Mutation_p.K68R	p.K68R	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	2	378	+		Breast(66;7.62e-05)|Ovarian(120;0.105)	68					B3KRP5|Q4QQJ4|Q5JZD6	Missense_Mutation	SNP	ENST00000230256.3	37	c.203A>G	CCDS5300.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.992692	0.74703	.	.	ENSG00000112494	ENST00000503433;ENST00000230256;ENST00000366829	T;T;T	0.79653	-1.29;-1.29;-1.29	4.66	4.66	0.58398	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.83714	0.5314	M	0.67569	2.06	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.73380	0.913;0.98	T	0.83121	-0.0118	10	0.33940	T	0.23	-35.7695	13.2625	0.60113	1.0:0.0:0.0:0.0	.	68;68	Q4QQJ4;Q86WB7	.;UN93A_HUMAN	R	68	ENSP00000421484:K68R;ENSP00000230256:K68R;ENSP00000355794:K68R	ENSP00000230256:K68R	K	+	2	0	UNC93A	167628110	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	8.059000	0.89462	1.724000	0.51502	0.260000	0.18958	AAG		0.647	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043125.2	NM_018974		78	151	0	0	0	1	0	78	151				
CDS1	1040	broad.mit.edu	37	4	85525494	85525494	+	Silent	SNP	C	C	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr4:85525494C>A	ENST00000295887.5	+	2	639	c.216C>A	c.(214-216)ctC>ctA	p.L72L		NM_001263.3	NP_001254.2	O96017	CHK2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	396					cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		CTGAGATTCTCAAAAAAGCTC	0.378																																						ENST00000295887.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20						c.(214-216)ctC>ctA		CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1							94.0	94.0	94.0					4																	85525494		2203	4300	6503	SO:0001819	synonymous_variant	1040				signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity	g.chr4:85525494C>A	U65887	CCDS3608.1	4q21	2008-02-05			ENSG00000163624	ENSG00000163624	2.7.7.41		1800	protein-coding gene	gene with protein product		603548				9806839, 9115637	Standard	NM_001263		Approved		uc011ccv.2	Q92903	OTTHUMG00000130428	ENST00000295887.5:c.216C>A	4.37:g.85525494C>A							p.L72L	NM_001263.3	NP_001254.2	Q92903	CDS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00101)	2	639	+		Hepatocellular(203;0.114)	72					A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000295887.5	37	c.216C>A	CCDS3608.1																																																																																				0.378	CDS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252817.2			5	20	1	0	0.014758	1	0.0152776	5	20				
TUBB8P7	197331	broad.mit.edu	37	16	90162475	90162475	+	RNA	SNP	G	G	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr16:90162475G>A	ENST00000564451.1	+	0	1828				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		CGAGGGCATGGATGAGATGGA	0.522																																						ENST00000564451.1																			0																																																			197331							g.chr16:90162475G>A			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162475G>A						TUBB8P7_ENST00000567960.1_RNA								0	1828	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.522	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		42	86	0	0	0	1	0	42	86				
DDX46	9879	broad.mit.edu	37	5	134153311	134153311	+	Silent	SNP	G	G	A	rs146021738	byFrequency	TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr5:134153311G>A	ENST00000354283.4	+	20	2871	c.2736G>A	c.(2734-2736)ccG>ccA	p.P912P	DDX46_ENST00000452510.2_Silent_p.P913P			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	912					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATTATGTGCCGTTAGAGAAAC	0.413													T|||	2	0.000399361	0.0	0.0	5008	,	,		18638	0.0		0.002	False		,,,				2504	0.0				Colon(13;391 453 4901 21675 24897)	ENST00000452510.2																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(2737-2739)ccG>ccA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 46		T		1,4405		0,1,2202	122.0	116.0	118.0		2736	5.8	1.0	5	dbSNP_134	118	9,8591		0,9,4291	no	coding-synonymous	DDX46	NM_014829.2		0,10,6493	AA,AG,GG		0.1047,0.0227,0.0769		912/1032	134153311	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	9879				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr5:134153311G>A		CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"""DEAD-boxes"""	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.2736G>A	5.37:g.134153311G>A						DDX46_ENST00000354283.4_Silent_p.P912P	p.P913P	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		20	2897	+			912					O94894|Q96EI0|Q9Y658	Silent	SNP	ENST00000354283.4	37	c.2739G>A	CCDS34240.1																																																																																				0.413	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371584.1	NM_014829		4	28	0	0	0	1	0	4	28				
MYCBP2	23077	broad.mit.edu	37	13	77661767	77661767	+	Splice_Site	SNP	G	G	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr13:77661767G>A	ENST00000544440.2	-	62	10630	c.10613C>T	c.(10612-10614)gCt>gTt	p.A3538V	MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2-AS1_ENST00000422231.2_RNA|MYCBP2-AS1_ENST00000448470.2_RNA|MYCBP2_ENST00000357337.6_Splice_Site_p.A3538V|MYCBP2-AS1_ENST00000450627.2_RNA|MYCBP2_ENST00000407578.2_Splice_Site_p.A3576V					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CCAGTTGAAAGCCTGAAGAAA	0.388																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.e62-1		MYC binding protein 2, E3 ubiquitin protein ligase							101.0	89.0	93.0					13																	77661767		2203	4299	6502	SO:0001630	splice_region_variant	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77661767G>A	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.10612-1C>T	13.37:g.77661767G>A						MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2-AS1_ENST00000448470.2_RNA|MYCBP2_ENST00000357337.6_Splice_Site_p.A3538_splice|MYCBP2_ENST00000544440.2_Splice_Site_p.A3538_splice|MYCBP2-AS1_ENST00000450627.2_RNA|MYCBP2-AS1_ENST00000422231.2_RNA	p.A3576_splice	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	62	10993	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	3538						Splice_Site	SNP	ENST00000544440.2	37	c.10725_splice		.	.	.	.	.	.	.	.	.	.	G	32	5.124260	0.94429	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.31510	1.49;1.49;1.49	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.52709	0.1751	L	0.52905	1.665	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	T	0.52859	-0.8519	10	0.72032	D	0.01	.	19.2603	0.93966	0.0:0.0:1.0:0.0	.	3538	O75592	MYCB2_HUMAN	V	3538;3576;3538	ENSP00000349892:A3538V;ENSP00000384288:A3576V;ENSP00000444596:A3538V	ENSP00000349892:A3538V	A	-	2	0	MYCBP2	76559768	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	9.857000	0.99534	2.540000	0.85666	0.563000	0.77884	GCT		0.388	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057	Missense_Mutation	5	19	0	0	0	1	0	5	19				
PNLDC1	154197	broad.mit.edu	37	6	160225638	160225638	+	Missense_Mutation	SNP	G	G	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr6:160225638G>A	ENST00000610273.1	+	6	568	c.397G>A	c.(397-399)Gat>Aat	p.D133N	PNLDC1_ENST00000392167.3_Missense_Mutation_p.D144N|PNLDC1_ENST00000609334.1_3'UTR	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	133						integral component of membrane (GO:0016021)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		AATTAGACACGATATCCTGAC	0.443																																						ENST00000275275.5																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31						c.(397-399)Gat>Aat		poly(A)-specific ribonuclease (PARN)-like domain containing 1							112.0	105.0	107.0					6																	160225638		2203	4300	6503	SO:0001583	missense	154197					integral to membrane|nucleus	nucleic acid binding	g.chr6:160225638G>A	AK097559	CCDS5271.1, CCDS5271.2, CCDS64561.1	6q25.3	2008-02-05			ENSG00000146453	ENSG00000146453			21185	protein-coding gene	gene with protein product							Standard	NM_001271862		Approved	FLJ40240, dJ195P10.2	uc003qsy.2	Q8NA58	OTTHUMG00000015941	ENST00000610273.1:c.397G>A	6.37:g.160225638G>A	ENSP00000476448:p.Asp133Asn					PNLDC1_ENST00000392167.3_Missense_Mutation_p.D144N	p.D133N	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	6	568	+		Breast(66;0.00519)|Ovarian(120;0.123)	133					Q5TAP7|Q8N7X5	Missense_Mutation	SNP	ENST00000610273.1	37	c.397G>A	CCDS5271.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.068309	0.00382	.	.	ENSG00000146453	ENST00000275275;ENST00000392167	.	.	.	5.28	2.77	0.32553	Ribonuclease H-like (1);	0.783937	0.11794	N	0.528820	T	0.05410	0.0143	N	0.17723	0.515	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.04013	0.0;0.001	T	0.41251	-0.9519	9	0.07325	T	0.83	.	3.5154	0.07723	0.4278:0.2413:0.3309:0.0	.	144;133	Q8NA58-2;Q8NA58	.;PNDC1_HUMAN	N	133;144	.	ENSP00000275275:D133N	D	+	1	0	PNLDC1	160145628	0.001000	0.12720	0.321000	0.25320	0.016000	0.09150	0.827000	0.27421	0.746000	0.32786	-0.345000	0.07892	GAT		0.443	PNLDC1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_173516		4	31	0	0	0	1	0	4	31				
LOXL3	84695	broad.mit.edu	37	2	74777456	74777456	+	Silent	SNP	G	G	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr2:74777456G>A	ENST00000264094.3	-	3	404	c.333C>T	c.(331-333)aaC>aaT	p.N111N	LOXL3_ENST00000484369.1_5'UTR|LOXL3_ENST00000409249.1_Silent_p.N111N|LOXL3_ENST00000409549.1_Silent_p.N111N|DOK1_ENST00000409429.1_Intron|LOXL3_ENST00000393937.2_Silent_p.N111N|LOXL3_ENST00000409986.1_Silent_p.N111N	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	111	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						TGCAGCTCAAGTTGTCCAGCC	0.592																																						ENST00000264094.3																			0				endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						c.(331-333)aaC>aaT		lysyl oxidase-like 3							80.0	74.0	76.0					2																	74777456		2203	4300	6503	SO:0001819	synonymous_variant	84695					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity	g.chr2:74777456G>A	AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.333C>T	2.37:g.74777456G>A						LOXL3_ENST00000484369.1_5'UTR|LOXL3_ENST00000409986.1_Silent_p.N111N|LOXL3_ENST00000409249.1_Silent_p.N111N|LOXL3_ENST00000393937.2_Silent_p.N111N|DOK1_ENST00000409429.1_Intron|LOXL3_ENST00000409549.1_Silent_p.N111N	p.N111N	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN			3	404	-			111			SRCR 1.		D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Silent	SNP	ENST00000264094.3	37	c.333C>T	CCDS1953.1																																																																																				0.592	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252215.1	NM_032603		20	59	0	0	0	1	0	20	59				
CDC42BPG	55561	broad.mit.edu	37	11	64597180	64597180	+	Missense_Mutation	SNP	C	C	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr11:64597180C>T	ENST00000342711.5	-	30	3729	c.3730G>A	c.(3730-3732)Ggt>Agt	p.G1244S	CDC42BPG_ENST00000491280.1_5'Flank	NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						GCAAAGCCACCGGCGGCGCCC	0.731																																						ENST00000342711.5																			0				central_nervous_system(1)|lung(3)	4						c.(3730-3732)Ggt>Agt		CDC42 binding protein kinase gamma (DMPK-like)							9.0	12.0	11.0					11																	64597180		2172	4262	6434	SO:0001583	missense	55561				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64597180C>T	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.3730G>A	11.37:g.64597180C>T	ENSP00000345133:p.Gly1244Ser						p.G1244S	NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN			30	3729	-			1244			CNH.			Missense_Mutation	SNP	ENST00000342711.5	37	c.3730G>A	CCDS31601.1	.	.	.	.	.	.	.	.	.	.	C	1.192	-0.635015	0.03584	.	.	ENSG00000171219	ENST00000342711	T	0.04194	3.68	4.85	4.85	0.62838	Citron-like (2);	0.000000	0.42548	D	0.000692	T	0.05547	0.0146	N	0.05158	-0.105	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.38286	-0.9668	10	0.02654	T	1	.	9.4899	0.38953	0.0:0.9024:0.0:0.0976	.	1244	Q6DT37	MRCKG_HUMAN	S	1244	ENSP00000345133:G1244S	ENSP00000345133:G1244S	G	-	1	0	CDC42BPG	64353756	0.525000	0.26290	0.076000	0.20297	0.032000	0.12392	1.375000	0.34295	2.440000	0.82611	0.650000	0.86243	GGT		0.731	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		9	17	0	0	0	1	0	9	17				
GABRA3	2556	broad.mit.edu	37	X	151393236	151393236	+	Splice_Site	SNP	G	G	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chrX:151393236G>T	ENST00000370314.4	-	6	871	c.633C>A	c.(631-633)agC>agA	p.S211R	GABRA3_ENST00000535043.1_Splice_Site_p.S211R	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	211					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	AATACATACAGCTTCCAAACT	0.383																																					NSCLC(142;2578 2613 10251 16743)	ENST00000370314.4																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37						c.e6+1		gamma-aminobutyric acid (GABA) A receptor, alpha 3	Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						94.0	86.0	89.0					X																	151393236		2203	4300	6503	SO:0001630	splice_region_variant	2556				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chrX:151393236G>T		CCDS14706.1	Xq28	2012-06-22			ENSG00000011677	ENSG00000011677		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4077	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 3"""	305660					Standard	NM_000808		Approved		uc010ntk.1	P34903	OTTHUMG00000024183	ENST00000370314.4:c.634+1C>A	X.37:g.151393236G>T						GABRA3_ENST00000370311.1_Splice_Site_p.S211_splice|GABRA3_ENST00000535043.1_Splice_Site_p.S211_splice	p.S211_splice	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN			6	871	-	Acute lymphoblastic leukemia(192;6.56e-05)		211					Q8TAF9	Splice_Site	SNP	ENST00000370314.4	37	c.634_splice	CCDS14706.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.699182	0.48307	.	.	ENSG00000011677	ENST00000370314;ENST00000370311;ENST00000535043	D;D;D	0.86769	-2.17;-2.17;-2.17	5.46	3.69	0.42338	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.95249	0.8459	H	0.98314	4.2	0.54753	D	0.99998	D	0.69078	0.997	D	0.81914	0.995	D	0.93246	0.6630	10	0.87932	D	0	.	6.983	0.24713	0.2888:0.0:0.7112:0.0	.	211	P34903	GBRA3_HUMAN	R	211	ENSP00000359337:S211R;ENSP00000359334:S211R;ENSP00000443527:S211R	ENSP00000359334:S211R	S	-	3	2	GABRA3	151143892	1.000000	0.71417	1.000000	0.80357	0.632000	0.37999	3.025000	0.49681	0.497000	0.27926	-0.296000	0.09543	AGC		0.383	GABRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060921.1	NM_000808	Missense_Mutation	6	47	1	0	0.0215528	1	0.0221556	6	47				
CCDC85A	114800	broad.mit.edu	37	2	56602951	56602951	+	Splice_Site	SNP	G	G	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr2:56602951G>T	ENST00000407595.2	+	5	1955	c.1453G>T	c.(1453-1455)Ggt>Tgt	p.G485C	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	485										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TTCTACTAAGGGTTCTTTTAG	0.403																																						ENST00000407595.2																			0				breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38						c.e5-1		coiled-coil domain containing 85A							93.0	85.0	87.0					2																	56602951		1860	4100	5960	SO:0001630	splice_region_variant	114800							g.chr2:56602951G>T	AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.1453-1G>T	2.37:g.56602951G>T						RP11-482H16.1_ENST00000607540.1_RNA	p.G485_splice	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		5	1955	+			485						Splice_Site	SNP	ENST00000407595.2	37	c.1452_splice	CCDS46290.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.184980	0.57909	.	.	ENSG00000055813	ENST00000407595;ENST00000407862	.	.	.	5.15	4.27	0.50696	.	0.000000	0.37906	N	0.001886	T	0.45216	0.1331	N	0.08118	0	0.41164	D	0.986117	D	0.69078	0.997	P	0.58577	0.841	T	0.42327	-0.9458	8	.	.	.	-35.9433	12.0857	0.53695	0.0794:0.0:0.9206:0.0	.	485	Q96PX6	CC85A_HUMAN	C	485;74	.	.	G	+	1	0	CCDC85A	56456455	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.819000	0.69243	1.397000	0.46682	0.467000	0.42956	GGT		0.403	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1		Missense_Mutation	17	7	1	0	0.000566183	1	0.00060751	17	7				
ATF6	22926	broad.mit.edu	37	1	161928383	161928383	+	Missense_Mutation	SNP	C	C	G			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr1:161928383C>G	ENST00000367942.3	+	16	2019	c.1952C>G	c.(1951-1953)tCc>tGc	p.S651C		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	651					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response (GO:0006990)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to stress (GO:0006950)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)		Pseudoephedrine(DB00852)	TTCTTTGGCTCCCCTCCCGCA	0.532																																						ENST00000367942.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34						c.(1951-1953)tCc>tGc		activating transcription factor 6							139.0	125.0	130.0					1																	161928383		2203	4300	6503	SO:0001583	missense	22926				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:161928383C>G	AB015856	CCDS1235.1	1q22-q23	2013-01-10			ENSG00000118217	ENSG00000118217		"""basic leucine zipper proteins"""	791	protein-coding gene	gene with protein product	"""activating transcription factor 6 alpha"""	605537				9837962, 9271374, 11256944	Standard	NM_007348		Approved	ATF6A	uc001gbs.3	P18850	OTTHUMG00000023961	ENST00000367942.3:c.1952C>G	1.37:g.161928383C>G	ENSP00000356919:p.Ser651Cys						p.S651C	NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00953)		16	2019	+	all_hematologic(112;0.156)		651					O15139|Q5VW62|Q6IPB5|Q9UEC9	Missense_Mutation	SNP	ENST00000367942.3	37	c.1952C>G	CCDS1235.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.844061	0.71488	.	.	ENSG00000118217	ENST00000367942	T	0.16457	2.34	5.41	5.41	0.78517	.	0.067783	0.64402	D	0.000011	T	0.22166	0.0534	L	0.36672	1.1	0.34261	D	0.679857	D	0.76494	0.999	D	0.64042	0.921	T	0.01345	-1.1379	9	0.72032	D	0.01	-9.7213	16.6876	0.85312	0.0:1.0:0.0:0.0	.	651	P18850	ATF6A_HUMAN	C	651	ENSP00000356919:S651C	ENSP00000356919:S651C	S	+	2	0	ATF6	160195007	0.824000	0.29247	1.000000	0.80357	0.976000	0.68499	4.735000	0.62051	2.540000	0.85666	0.650000	0.86243	TCC		0.532	ATF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060304.2	NM_007348		24	79	0	0	0	1	0	24	79				
MAGI2	9863	broad.mit.edu	37	7	79082343	79082343	+	Silent	SNP	G	G	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr7:79082343G>A	ENST00000354212.4	-	1	547	c.294C>T	c.(292-294)gtC>gtT	p.V98V	MAGI2-AS3_ENST00000422093.1_RNA|MAGI2-AS3_ENST00000414797.1_RNA|MAGI2-AS3_ENST00000424477.1_RNA|MAGI2-AS3_ENST00000426835.1_RNA|MAGI2-AS3_ENST00000451809.1_RNA|MAGI2-AS3_ENST00000446159.1_RNA|MAGI2_ENST00000419488.1_Silent_p.V98V|MAGI2_ENST00000522391.1_Silent_p.V98V|MAGI2-AS3_ENST00000448195.1_RNA|MAGI2-AS3_ENST00000429408.1_RNA	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	98	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CACCTTGCTTGACACACTTGA	0.647																																						ENST00000354212.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84						c.(292-294)gtC>gtT		membrane associated guanylate kinase, WW and PDZ domain containing 2							42.0	46.0	45.0					7																	79082343		2203	4300	6503	SO:0001819	synonymous_variant	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:79082343G>A	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.294C>T	7.37:g.79082343G>A						MAGI2_ENST00000419488.1_Silent_p.V98V|MAGI2_ENST00000522391.1_Silent_p.V98V|MAGI2-AS3_ENST00000429408.1_RNA	p.V98V	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN			1	547	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	98			PDZ 1.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Silent	SNP	ENST00000354212.4	37	c.294C>T	CCDS5594.1																																																																																				0.647	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		20	57	0	0	0	1	0	20	57				
RSF1	51773	broad.mit.edu	37	11	77377983	77377983	+	Silent	SNP	G	G	C			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr11:77377983G>C	ENST00000308488.6	-	16	4607	c.4305C>G	c.(4303-4305)gtC>gtG	p.V1435V	RSF1_ENST00000360355.2_Silent_p.V1404V|RSF1_ENST00000480887.1_Silent_p.V1183V			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1435					CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CACTGTTACAGACATAATCAA	0.443																																						ENST00000308488.6																			0				breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(4303-4305)gtC>gtG		remodeling and spacing factor 1							126.0	107.0	114.0					11																	77377983		2200	4292	6492	SO:0001819	synonymous_variant	51773				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding	g.chr11:77377983G>C	AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"""Zinc fingers, PHD-type"""	18118	protein-coding gene	gene with protein product		608522	"""hepatitis B virus x associated protein"""	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.4305C>G	11.37:g.77377983G>C						RSF1_ENST00000360355.2_Silent_p.V1404V|RSF1_ENST00000480887.1_Silent_p.V1183V	p.V1435V			Q96T23	RSF1_HUMAN	Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)		16	4607	-	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		1435					Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Silent	SNP	ENST00000308488.6	37	c.4305C>G	CCDS8253.1																																																																																				0.443	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2	NM_016578		27	106	0	0	0	1	0	27	106				
SCNN1D	6339	broad.mit.edu	37	1	1219451	1219451	+	Frame_Shift_Del	DEL	G	G	-			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr1:1219451delG	ENST00000338555.2	+	3	1191	c.47delG	c.(46-48)cggfs	p.R16fs	SCNN1D_ENST00000325425.8_Frame_Shift_Del_p.G52fs|SCNN1D_ENST00000379116.5_Frame_Shift_Del_p.G150fs|SCNN1D_ENST00000400928.3_Frame_Shift_Del_p.R16fs|SCNN1D_ENST00000467651.2_3'UTR			P51172	SCNND_HUMAN	sodium channel, non-voltage-gated 1, delta subunit	16					ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ligand-gated sodium channel activity (GO:0015280)			lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	Amiloride(DB00594)|Triamterene(DB00384)	GCAGCCACACGGGGGGGCTCT	0.687																																						ENST00000338555.2																			0				lung(6)|skin(1)	7						c.(46-48)cgfs		sodium channel, non-voltage-gated 1, delta subunit				9,3413		0,9,1702	3.0	4.0	4.0			0.8	0.0	1		4	13,7079		0,13,3533	no	frameshift	SCNN1D	NM_001130413.3		0,22,5235	A1A1,A1R,RR		0.1833,0.263,0.2092			1219451	22,10492	1869	3851	5720	SO:0001589	frameshift_variant	6339							g.chr1:1219451delG	U38254	CCDS44037.1, CCDS44037.2	1p36.3-p36.2	2012-02-28	2012-02-28		ENSG00000162572	ENSG00000162572		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10601	protein-coding gene	gene with protein product		601328	"""sodium channel, nonvoltage-gated 1, delta"", ""sodium channel, non-voltage-gated 1, delta"""			8661065	Standard	NM_001130413		Approved	ENaCdelta, dNaCh	uc001adt.1	P51172	OTTHUMG00000002081	ENST00000338555.2:c.47delG	1.37:g.1219451delG	ENSP00000339504:p.Arg16fs					SCNN1D_ENST00000325425.8_Frame_Shift_Del_p.G52fs|SCNN1D_ENST00000467651.2_3'UTR|SCNN1D_ENST00000379116.5_Frame_Shift_Del_p.G150fs|SCNN1D_ENST00000400928.3_Frame_Shift_Del_p.R16fs	p.R16fs						Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	3	1191	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)						A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24	Frame_Shift_Del	DEL	ENST00000338555.2	37	c.47delG																																																																																					0.687	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000005802.2	NM_002978		2	4						2	4	---	---	---	---
PCSK9	255738	broad.mit.edu	37	1	55505553	55505555	+	In_Frame_Del	DEL	CTG	CTG	-	rs67610340		TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr1:55505553_55505555delCTG	ENST00000302118.5	+	1	333_335	c.43_45delCTG	c.(43-45)ctgdel	p.L23del	PCSK9_ENST00000452118.2_In_Frame_Del_p.L23del|PCSK9_ENST00000543384.1_5'Flank	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	23			L -> LL (this polymoprhism seems to have a modifier effect on LDLR mutation and familial hypercholesterolemia). {ECO:0000269|PubMed:19319977, ECO:0000269|PubMed:22095935, ECO:0000269|Ref.4, ECO:0000269|Ref.5}.		apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|kidney development (GO:0001822)|lipoprotein metabolic process (GO:0042157)|liver development (GO:0001889)|low-density lipoprotein particle receptor catabolic process (GO:0032802)|lysosomal transport (GO:0007041)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor recycling (GO:0001920)|neurogenesis (GO:0022008)|neuron differentiation (GO:0030182)|phospholipid metabolic process (GO:0006644)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of receptor internalization (GO:0002092)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)|regulation of neuron apoptotic process (GO:0043523)|regulation of receptor activity (GO:0010469)|triglyceride metabolic process (GO:0006641)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	apolipoprotein binding (GO:0034185)|apolipoprotein receptor binding (GO:0034190)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein particle receptor binding (GO:0050750)|poly(A) RNA binding (GO:0044822)|protein self-association (GO:0043621)|serine-type endopeptidase activity (GO:0004252)|sodium channel inhibitor activity (GO:0019871)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.P14_L15insL(2)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						gccgctgccactgctgctgctgc	0.709																																					Pancreas(137;1454 1827 5886 22361 42375)	ENST00000302118.5																			2	Insertion - In frame(2)	p.P14_L15insL(2)	breast(1)|central_nervous_system(1)	NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						c.(43-45)del		proprotein convertase subtilisin/kexin type 9				61,2,537,84,3012		19,0,2,0,21,1,0,0,0,105,6,319,10,58,1307						0.2	0.0		dbSNP_130	10	61,21,797,190,6069		12,0,0,1,36,3,4,0,11,129,6,529,19,145,2674	no	codingComplex	PCSK9	NM_174936.3		31,0,2,1,57,4,4,0,11,234,12,848,29,203,3981	A1A1,A1A2,A1A3,A1A4,A1R,A2A2,A2A3,A2A4,A2R,A3A3,A3A4,A3R,A4A4,A4R,RR		14.9762,18.5065,16.1805				122,23,1334,274,9081				SO:0001651	inframe_deletion	255738				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding	g.chr1:55505553_55505555delCTG	AX207686	CCDS603.1	1p34.1-p32	2014-09-17	2003-05-13		ENSG00000169174	ENSG00000169174			20001	protein-coding gene	gene with protein product		607786	"""hypercholesterolemia, autosomal dominant 3"""	HCHOLA3		12552133, 12730697	Standard	NM_174936		Approved	NARC-1, FH3	uc001cyf.2	Q8NBP7	OTTHUMG00000008136	ENST00000302118.5:c.43_45delCTG	1.37:g.55505562_55505564delCTG	ENSP00000303208:p.Leu23del					PCSK9_ENST00000452118.2_In_Frame_Del_p.L23del	p.L23del	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN			1	333_335	+			23		L -> LL (this polymoprhism seems to have a modifier effect on LDLR mutation and familial hypercholesterolemia).			A8T640|C0JYY9|Q5PSM5|Q5SZQ2	In_Frame_Del	DEL	ENST00000302118.5	37	c.43_45delCTG	CCDS603.1																																																																																				0.709	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022280.1	NM_174936		3	6						3	6	---	---	---	---
ADAM29	11086	broad.mit.edu	37	4	175898692	175898693	+	Frame_Shift_Ins	INS	-	-	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr4:175898692_175898693insA	ENST00000359240.3	+	5	2686_2687	c.2016_2017insA	c.(2017-2019)aaafs	p.K673fs	ADAM29_ENST00000445694.1_Frame_Shift_Ins_p.K673fs|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000404450.4_Frame_Shift_Ins_p.K673fs|ADAM29_ENST00000514159.1_Frame_Shift_Ins_p.K673fs	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	673	Poly-Lys.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.K672N(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AGAGAAAGAAGAAAAAGAAGTT	0.356																																					Ovarian(140;1727 1835 21805 25838 41440)	ENST00000359240.3																			1	Substitution - Missense(1)	p.K672N(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93						c.(2014-2019)aaaaaafs		ADAM metallopeptidase domain 29																																				SO:0001589	frameshift_variant	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175898692_175898693insA	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.2021dupA	4.37:g.175898697_175898697dupA	ENSP00000352177:p.Lys673fs					ADAM29_ENST00000404450.4_Frame_Shift_Ins_p.KK672fs|ADAM29_ENST00000514159.1_Frame_Shift_Ins_p.KK672fs|ADAM29_ENST00000445694.1_Frame_Shift_Ins_p.KK672fs	p.KK672fs	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	2686_2687	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	672			Poly-Lys.		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Frame_Shift_Ins	INS	ENST00000359240.3	37	c.2016_2017insA	CCDS3823.1																																																																																				0.356	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				20	9						20	9	---	---	---	---
LFNG	3955	broad.mit.edu	37	7	2558231	2558235	+	5'Flank	DEL	AGGTA	AGGTA	-			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr7:2558231_2558235delAGGTA	ENST00000222725.5	+	0	0				LFNG_ENST00000338732.3_Splice_Site_p.E15fs|LFNG_ENST00000402045.1_Splice_Site_p.E15fs|LFNG_ENST00000402506.1_Intron|LFNG_ENST00000359574.3_5'Flank	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase						compartment pattern specification (GO:0007386)|female meiotic division (GO:0007143)|metabolic process (GO:0008152)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|ovarian follicle development (GO:0001541)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)|regulation of Notch signaling pathway (GO:0008593)|regulation of somitogenesis (GO:0014807)|somitogenesis (GO:0001756)	extracellular region (GO:0005576)|integral component of Golgi membrane (GO:0030173)|vesicle (GO:0031982)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		attcaggtagaggtaaggagaGGGG	0.512																																						ENST00000402045.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6						c.e2+1		LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase																																				SO:0001631	upstream_gene_variant	3955				organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	g.chr7:2558231_2558235delAGGTA	BC014851	CCDS34586.1, CCDS34587.1, CCDS55081.1, CCDS55082.1	7p22.3	2013-02-19	2006-11-13		ENSG00000106003	ENSG00000106003	2.4.1.222	"""Beta 3-glycosyltransferases"""	6560	protein-coding gene	gene with protein product		602576	"""lunatic fringe (Drosophila) homolog"", ""lunatic fringe homolog (Drosophila)"""			9878264, 9187150	Standard	NM_001166355		Approved	SCDO3	uc003smf.3	Q8NES3	OTTHUMG00000152043		7.37:g.2558231_2558235delAGGTA	Exception_encountered					LFNG_ENST00000402506.1_Intron|LFNG_ENST00000338732.3_Splice_Site_p.15_splice	p.15_splice	NM_002304.2	NP_002295.1	Q8NES3	LFNG_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)	2	132_133	+		Ovarian(82;0.0112)	0					B3KTY6|B5MCR5|O00589|Q96C39|Q9UJW5	Splice_Site	DEL	ENST00000222725.5	37	c.45_splice	CCDS34587.1																																																																																				0.512	LFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325021.1	NM_002304		11	42						11	42	---	---	---	---
PHF2	5253	broad.mit.edu	37	9	96439004	96439005	+	In_Frame_Ins	INS	-	-	CCTGCCTCCACCACA	rs75653373|rs149736720|rs368818072	byFrequency	TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr9:96439004_96439005insCCTGCCTCCACCACA	ENST00000359246.4	+	21	3328_3329	c.2961_2962insCCTGCCTCCACCACA	c.(2962-2964)ccg>CCTGCCTCCACCACAccg	p.988_988P>PASTTP	PHF2_ENST00000375376.4_In_Frame_Ins_p.219_219P>PASTTP	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	988	Ser/Thr-rich.				liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.T987_P988insPASTT(1)|p.T987T(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		cctctaccaccccggcctccac	0.688														2369	0.473043	0.6853	0.4265	5008	,	,		14854	0.4246		0.5089	False		,,,				2504	0.2321					ENST00000359246.4																			2	Insertion - In frame(1)|Substitution - coding silent(1)	p.T987_P988insPASTT(1)|p.T987T(1)	large_intestine(1)|central_nervous_system(1)	breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(2959-2964)accggc>acCCTGCCTCCACCACAcggc		PHD finger protein 2				3102,73,967		1205,35,657,8,22,144						0.7	1.0		dbSNP_130	68	5084,99,2939		1725,33,1601,12,42,648	no	codingComplex	PHF2	NM_005392.3		2930,68,2258,20,64,792	A1A1,A1A2,A1R,A2A2,A2R,RR		37.4046,25.1086,33.2518				8186,172,3906				SO:0001652	inframe_insertion	5253				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:96439004_96439005insCCTGCCTCCACCACA	AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	8920	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1E"", ""centromere protein 35"""	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	Exception_encountered	9.37:g.96439004_96439005insCCTGCCTCCACCACA	ENSP00000352185:p.AlaSerThrThrPro993dup					PHF2_ENST00000375376.4_In_Frame_Ins_p.218_219TG>TLPPPHG	p.987_988TG>TLPPPHG	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)	21	3328_3329	+		Myeloproliferative disorder(762;0.0255)	987			Ser/Thr-rich.		Q4VXG0|Q8N3K2|Q9Y6N4	In_Frame_Ins	INS	ENST00000359246.4	37	c.2961_2962insCCTGCCTCCACCACA	CCDS35069.1																																																																																				0.688	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053162.1	NM_005392		9	-1						9	-1	---	---	---	---
ZNF32-AS3	414201	broad.mit.edu	37	10	44126381	44126381	+	lincRNA	DEL	A	A	-			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr10:44126381delA	ENST00000431956.1	-	0	359				ZNF32-AS3_ENST00000458063.1_RNA																							ACCGTCTTCCAGTAATTCGAC	0.368																																						ENST00000458063.1																			0																																																			414201							g.chr10:44126381delA																													10.37:g.44126381delA						RP11-402L1.4_ENST00000431956.1_lincRNA		NR_038867.1						0	162	+									RNA	DEL	ENST00000431956.1	37																																																																																						0.368	RP11-402L1.4-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000047717.1			2	4						2	4	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102306788	102306790	+	RNA	DEL	GTA	GTA	-	rs372910444		TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr15:102306788_102306790delGTA	ENST00000561463.1	+	0	13180									DNM1 pseudogene 47																		TTAGTCTGTTGTAGTGGTGAGCT	0.507																																						ENST00000561463.1																			0																																																			100216544							g.chr15:102306788_102306790delGTA	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102306788_102306790delGTA														0	13180	+									RNA	DEL	ENST00000561463.1	37																																																																																						0.507	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		2	4						2	4	---	---	---	---
C16orf90	646174	broad.mit.edu	37	16	3546140	3546141	+	5'Flank	INS	-	-	A	rs200618809|rs74546027		TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr16:3546140_3546141insA	ENST00000437192.3	-	0	0				LA16c-306E5.3_ENST00000574423.2_RNA	NM_001080524.1	NP_001073993.1	A8MZG2	CP090_HUMAN	chromosome 16 open reading frame 90											large_intestine(1)	1						gactccgtctcaaaaaaaaaaa	0.559																																						ENST00000574423.2																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr16:3546140_3546141insA		CCDS45397.1	16p13.3	2009-01-29			ENSG00000215131	ENSG00000215131			34455	protein-coding gene	gene with protein product							Standard	NM_001080524		Approved	LOC646174	uc002cvi.3	A8MZG2	OTTHUMG00000154627		16.37:g.3546151_3546151dupA	Exception_encountered													0	111	+									RNA	INS	ENST00000437192.3	37		CCDS45397.1																																																																																				0.559	C16orf90-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346319.2	NM_001080524		4	6						4	6	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7579379	7579380	+	Frame_Shift_Ins	INS	-	-	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr17:7579379_7579380insA	ENST00000269305.4	-	4	496_497	c.307_308insT	c.(307-309)tacfs	p.Y103fs	TP53_ENST00000420246.2_Frame_Shift_Ins_p.Y103fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.Y103fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.Y103fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.Y103fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Frame_Shift_Ins_p.Y103fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	103	Interaction with HIPK1. {ECO:0000250}.|Interaction with WWOX.|Required for interaction with ZNF385A.				apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.Y103fs*19(3)|p.K101_Y103>N(3)|p.Q100fs*37(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)|p.Y103fs*15(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCTGCCCTGGTAGGTTTTCTGG	0.634		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		27	Deletion - Frameshift(14)|Whole gene deletion(8)|Complex - deletion inframe(5)	p.0?(8)|p.Y103fs*19(3)|p.K101_Y103>N(3)|p.Q100fs*37(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)|p.Y103fs*15(1)	central_nervous_system(5)|bone(4)|upper_aerodigestive_tract(3)|ovary(3)|prostate(3)|large_intestine(2)|lung(2)|breast(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(307-309)ccafs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579379_7579380insA	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.308dupT	17.37:g.7579380_7579380dupA	ENSP00000269305:p.Tyr103fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Frame_Shift_Ins_p.P103fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.P103fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.P103fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.P103fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.P103fs	p.P103fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	439_440	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	103			Interaction with HIPK1 (By similarity).|Interaction with WWOX.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Ins	INS	ENST00000269305.4	37	c.307_308insT	CCDS11118.1																																																																																				0.634	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		42	69						42	69	---	---	---	---
HDGFRP2	84717	broad.mit.edu	37	19	4493799	4493801	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr19:4493799_4493801delTCC	ENST00000301284.4	+	7	842_844	c.778_780delTCC	c.(778-780)tccdel	p.S264del	HDGFRP2_ENST00000586684.1_In_Frame_Del_p.S264del	NM_001001520.1|NM_032631.2	NP_001001520|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		264	Ser-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										ctcctcctcttcctcctcctcct	0.675																																						ENST00000301284.4																			0											c.(778-780)del					,	24,3834		4,16,1909					,	-7.1	0.0			17	61,7745		7,47,3849	no	coding,coding	HDGFRP2	NM_032631.2,NM_001001520.1	,	11,63,5758	A1A1,A1R,RR		0.7815,0.6221,0.7287	,	,		85,11579				SO:0001651	inframe_deletion	84717				transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:4493799_4493801delTCC																												ENST00000301284.4:c.778_780delTCC	19.37:g.4493808_4493810delTCC	ENSP00000301284:p.Ser264del					HDGFRP2_ENST00000586684.1_In_Frame_Del_p.S264del	p.S264del	NM_001001520.1|NM_032631.2	NP_001001520.1|NP_116020.1	Q7Z4V5	HDGR2_HUMAN			7	842_844	+			264			Ser-rich.		I3L080|K7EQZ6|Q96GI5|Q9BW08	In_Frame_Del	DEL	ENST00000301284.4	37	c.778_780delTCC	CCDS42472.1																																																																																				0.675	HDGFRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458642.1			2	4						2	4	---	---	---	---
ZNF730	100129543	broad.mit.edu	37	19	23329275	23329276	+	Frame_Shift_Ins	INS	-	-	A	rs374912788|rs549248556	byFrequency	TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr19:23329275_23329276insA	ENST00000597761.2	+	4	1628_1629	c.1429_1430insA	c.(1429-1431)gaafs	p.E477fs		NM_001277403.1	NP_001264332.1	Q6ZMV8	ZN730_HUMAN	zinc finger protein 730	477					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						TCATTCTGGGGAAAAAATCTAC	0.376													|||unknown(NO_COVERAGE)	11	0.00219649	0.0076	0.0	5008	,	,		18406	0.001		0.0	False		,,,				2504	0.0					ENST00000597761.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						c.(1429-1431)aaafs		zinc finger protein 730																																				SO:0001589	frameshift_variant	100129543							g.chr19:23329275_23329276insA	AK131472	CCDS59371.1	19p12	2013-01-08			ENSG00000183850	ENSG00000183850		"""Zinc fingers, C2H2-type"", ""-"""	32470	protein-coding gene	gene with protein product							Standard	NM_001277403		Approved		uc031rkc.1	Q6ZMV8		ENST00000597761.2:c.1435dupA	19.37:g.23329281_23329281dupA	ENSP00000472959:p.Glu477fs						p.K477fs	NM_001277403.1	NP_001264332.1					4	1628_1629	+									Frame_Shift_Ins	INS	ENST00000597761.2	37	c.1429_1430insA	CCDS59371.1																																																																																				0.376	ZNF730-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465737.2	XM_001719792		7	6						7	6	---	---	---	---
CAPN12	147968	broad.mit.edu	37	19	39233740	39233742	+	Splice_Site	DEL	CTC	CTC	-			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr19:39233740_39233742delCTC	ENST00000328867.4	-	2	546_548	c.238_240delGAG	c.(238-240)gagdel	p.E80del	CAPN12_ENST00000601953.1_Intron	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	80	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CAGCACAGAACTCCTGTGGGTGG	0.591																																						ENST00000328867.4																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.e2-1		calpain 12																																				SO:0001630	splice_region_variant	147968				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr19:39233740_39233742delCTC	BC014027	CCDS12519.1	19q13.2	2014-08-12			ENSG00000182472	ENSG00000182472		"""EF-hand domain containing"""	13249	protein-coding gene	gene with protein product		608839					Standard	NM_144691		Approved		uc002ojd.1	Q6ZSI9	OTTHUMG00000182525	ENST00000328867.4:c.238-1GAG>-	19.37:g.39233740_39233742delCTC						CAPN12_ENST00000601953.1_Intron	p.E80_splice	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)		2	546_548	-	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		80			Calpain catalytic.			Splice_Site	DEL	ENST00000328867.4	37	c.237_splice	CCDS12519.1																																																																																				0.591	CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462151.1		In_Frame_Del	11	37						11	37	---	---	---	---
