#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
MCMDC2	157777	broad.mit.edu	37	8	67786675	67786675	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr8:67786675C>T	ENST00000422365.2	+	3	380	c.209C>T	c.(208-210)gCt>gTt	p.A70V	MCMDC2_ENST00000396592.3_Missense_Mutation_p.A70V|MCMDC2_ENST00000492775.1_Missense_Mutation_p.A70V|MCMDC2_ENST00000469823.1_3'UTR|MCMDC2_ENST00000313616.5_Missense_Mutation_p.A70V|MCMDC2_ENST00000541540.1_Intron	NM_173518.4	NP_775789.3	Q4G0Z9	MCMD2_HUMAN	minichromosome maintenance domain containing 2	70					DNA replication (GO:0006260)		ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(2)|kidney(2)|lung(5)	9						TTAAAAGCTGCTGAAGTCTTT	0.308																																						ENST00000422365.2																			0				endometrium(2)|kidney(2)|lung(5)	9						c.(208-210)gCt>gTt		minichromosome maintenance domain containing 2							85.0	85.0	85.0					8																	67786675		2202	4297	6499	SO:0001583	missense	157777				DNA replication		ATP binding|DNA binding	g.chr8:67786675C>T	BC034576	CCDS6197.2, CCDS47868.1, CCDS47869.1	8q13.1	2012-04-13	2012-04-13	2012-04-13	ENSG00000178460	ENSG00000178460			26368	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 45"""	C8orf45			Standard	NM_173518		Approved	FLJ25692	uc003xwz.4	Q4G0Z9	OTTHUMG00000157068	ENST00000422365.2:c.209C>T	8.37:g.67786675C>T	ENSP00000413632:p.Ala70Val					MCMDC2_ENST00000492775.1_Missense_Mutation_p.A70V|MCMDC2_ENST00000313616.5_Missense_Mutation_p.A70V|MCMDC2_ENST00000469823.1_3'UTR|MCMDC2_ENST00000396592.3_Missense_Mutation_p.A70V|MCMDC2_ENST00000541540.1_Intron	p.A70V	NM_173518.4	NP_775789.3	Q4G0Z9	CH045_HUMAN			3	380	+			70					B4DYZ3|B4DZM4|B4E293|Q6P533|Q7Z3P4	Missense_Mutation	SNP	ENST00000422365.2	37	c.209C>T	CCDS6197.2	.	.	.	.	.	.	.	.	.	.	C	17.66	3.444447	0.63178	.	.	ENSG00000178460	ENST00000396592;ENST00000422365;ENST00000492775;ENST00000313616	T;T;T;T	0.03920	3.76;3.76;3.76;3.76	4.4	4.4	0.53042	.	0.176429	0.49916	D	0.000139	T	0.06735	0.0172	L	0.46157	1.445	0.80722	D	1	B;B;B	0.18461	0.016;0.016;0.028	B;B;B	0.17722	0.008;0.008;0.019	T	0.32929	-0.9888	10	0.23891	T	0.37	-4.728	17.3371	0.87285	0.0:1.0:0.0:0.0	.	70;70;70	Q4G0Z9;B4DXX4;G3XAN3	CH045_HUMAN;.;.	V	70	ENSP00000379837:A70V;ENSP00000413632:A70V;ENSP00000428037:A70V;ENSP00000317234:A70V	ENSP00000317234:A70V	A	+	2	0	C8orf45	67949229	1.000000	0.71417	0.998000	0.56505	0.920000	0.55202	3.529000	0.53532	2.158000	0.67659	0.557000	0.71058	GCT		0.308	MCMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347350.1	NM_173518		4	42	0	0	0	1	0	4	42				
NCKAP5	344148	broad.mit.edu	37	2	133539877	133539877	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr2:133539877C>A	ENST00000409261.1	-	14	4880	c.4507G>T	c.(4507-4509)Ggg>Tgg	p.G1503W	NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.G1503W|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1503										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						AAAGAAGGCCCAGGCTTCTGC	0.458																																						ENST00000409261.1																			0				NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(4507-4509)Ggg>Tgg		NCK-associated protein 5							69.0	69.0	69.0					2																	133539877		1847	4088	5935	SO:0001583	missense	344148						protein binding	g.chr2:133539877C>A	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.4507G>T	2.37:g.133539877C>A	ENSP00000387128:p.Gly1503Trp					NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.G1503W	p.G1503W	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN			14	4880	-			1503					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.4507G>T	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.353932	0.41700	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.15487	2.42;2.42	5.55	4.68	0.58851	.	0.000000	0.39407	U	0.001377	T	0.30293	0.0760	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.04333	-1.0959	10	0.87932	D	0	.	12.7594	0.57354	0.0:0.9251:0.0:0.0749	.	1503	O14513	NCKP5_HUMAN	W	1503	ENSP00000387128:G1503W;ENSP00000380603:G1503W	ENSP00000380603:G1503W	G	-	1	0	NCKAP5	133256347	1.000000	0.71417	0.903000	0.35520	0.477000	0.33069	4.906000	0.63293	1.594000	0.50039	-0.218000	0.12543	GGG		0.458	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		23	37	1	0	3.5997e-14	1	4.45488e-14	23	37				
AQR	9716	broad.mit.edu	37	15	35196564	35196564	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr15:35196564C>G	ENST00000156471.5	-	19	2199	c.1974G>C	c.(1972-1974)agG>agC	p.R658S		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	658					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R658R(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TTGGTTTTCTCCTCATTATTA	0.289																																						ENST00000156471.5																			1	Substitution - coding silent(1)	p.R658R(1)	kidney(1)	breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57						c.(1972-1974)agG>agC		aquarius intron-binding spliceosomal factor							85.0	78.0	80.0					15																	35196564		1789	4057	5846	SO:0001583	missense	9716					catalytic step 2 spliceosome	RNA binding	g.chr15:35196564C>G	AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 164"""	610548	"""aquarius homolog (mouse)"""			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.1974G>C	15.37:g.35196564C>G	ENSP00000156471:p.Arg658Ser						p.R658S	NM_014691.2	NP_055506.1	O60306	AQR_HUMAN		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)	19	2199	-		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)	658					A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	ENST00000156471.5	37	c.1974G>C	CCDS42013.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.307371	0.60305	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	D	0.97161	-4.27	5.26	-1.51	0.08664	.	0.000000	0.85682	D	0.000000	D	0.98419	0.9474	H	0.96208	3.785	0.48975	D	0.999739	D	0.89917	1.0	D	0.91635	0.999	D	0.96705	0.9521	10	0.87932	D	0	-13.5619	6.8951	0.24251	0.0:0.3879:0.1204:0.4916	.	658	O60306	AQR_HUMAN	S	658	ENSP00000156471:R658S	ENSP00000156471:R658S	R	-	3	2	AQR	32983856	0.541000	0.26417	0.995000	0.50966	0.949000	0.60115	-0.187000	0.09656	-0.142000	0.11354	-0.812000	0.03155	AGG		0.289	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691		7	32	0	0	0	1	0	7	32				
CTBP2	1488	broad.mit.edu	37	10	126715728	126715728	+	Intron	SNP	C	C	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr10:126715728C>T	ENST00000337195.5	-	3	458				CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000309035.6_Missense_Mutation_p.E201K	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2						negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		GCAGGCACCTCCGCCCCATAC	0.647																																						ENST00000309035.6																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(601-603)Gag>Aag		C-terminal binding protein 2							35.0	38.0	37.0					10																	126715728		2203	4300	6503	SO:0001627	intron_variant	1488				negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	g.chr10:126715728C>T	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.58+11837G>A	10.37:g.126715728C>T						CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000337195.5_Intron	p.E201K	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)	1	731	-		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)	0					A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Missense_Mutation	SNP	ENST00000337195.5	37	c.601G>A	CCDS7643.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.173706	0.38413	.	.	ENSG00000175029	ENST00000309035	D	0.87029	-2.2	4.39	3.47	0.39725	.	0.085006	0.43579	D	0.000558	D	0.88347	0.6412	.	.	.	0.80722	D	1	P	0.51351	0.944	P	0.48270	0.572	D	0.89767	0.3951	9	0.87932	D	0	.	14.8138	0.70017	0.0:0.8552:0.1448:0.0	.	201	P56545-2	.	K	201	ENSP00000311825:E201K	ENSP00000311825:E201K	E	-	1	0	CTBP2	126705718	0.997000	0.39634	0.277000	0.24703	0.062000	0.15995	4.420000	0.59841	1.206000	0.43276	0.650000	0.86243	GAG		0.647	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		10	63	0	0	0	1	0	10	63				
UNC13D	201294	broad.mit.edu	37	17	73831565	73831565	+	Silent	SNP	C	C	T	rs367988204		TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr17:73831565C>T	ENST00000207549.4	-	20	2152	c.1773G>A	c.(1771-1773)ccG>ccA	p.P591P	UNC13D_ENST00000412096.2_Silent_p.P591P	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	591	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGGGGATGGCCGGCTGGAACC	0.692									Familial Hemophagocytic Lymphohistiocytosis																													ENST00000207549.4																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1771-1773)ccG>ccA		unc-13 homolog D (C. elegans)		C		1,4405	2.1+/-5.4	0,1,2202	38.0	38.0	38.0		1773	-9.5	0.9	17		38	0,8598		0,0,4299	no	coding-synonymous	UNC13D	NM_199242.2		0,1,6501	TT,TC,CC		0.0,0.0227,0.0077		591/1091	73831565	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	201294	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding	g.chr17:73831565C>T	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.1773G>A	17.37:g.73831565C>T						UNC13D_ENST00000412096.2_Silent_p.P591P	p.P591P	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)		20	2152	-			591			MHD1.		B4DWG9|Q9H7K5	Silent	SNP	ENST00000207549.4	37	c.1773G>A	CCDS11730.1																																																																																				0.692	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448847.2	XM_113950		4	14	0	0	0	1	0	4	14				
ABCC5	10057	broad.mit.edu	37	3	183646567	183646567	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr3:183646567C>T	ENST00000334444.6	-	27	4141	c.3901G>A	c.(3901-3903)Gat>Aat	p.D1301N	ABCC5_ENST00000265586.6_Missense_Mutation_p.D1258N	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1301	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	TCCAGGGCATCCCAAATCTGG	0.517																																						ENST00000334444.6																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(3901-3903)Gat>Aat		ATP-binding cassette, sub-family C (CFTR/MRP), member 5							137.0	136.0	136.0					3																	183646567		1984	4168	6152	SO:0001583	missense	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183646567C>T	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.3901G>A	3.37:g.183646567C>T	ENSP00000333926:p.Asp1301Asn					ABCC5_ENST00000265586.6_Missense_Mutation_p.D1258N	p.D1301N	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		27	4141	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		1301			ABC transporter 2.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	37	c.3901G>A	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.422187	0.62622	.	.	ENSG00000114770	ENST00000334444;ENST00000265586	D;D	0.94046	-3.34;-3.34	5.02	5.02	0.67125	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.192195	0.43579	D	0.000554	D	0.90082	0.6902	L	0.39633	1.23	0.80722	D	1	B;B	0.14438	0.01;0.003	B;B	0.16289	0.015;0.008	D	0.85642	0.1277	10	0.22706	T	0.39	-23.5612	18.5365	0.91013	0.0:1.0:0.0:0.0	.	1258;1301	Q86UX3;O15440	.;MRP5_HUMAN	N	1301;1258	ENSP00000333926:D1301N;ENSP00000265586:D1258N	ENSP00000265586:D1258N	D	-	1	0	ABCC5	185129261	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.782000	0.68973	2.596000	0.87737	0.563000	0.77884	GAT		0.517	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		15	61	0	0	0	1	0	15	61				
MAP3K19	80122	broad.mit.edu	37	2	135738623	135738623	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr2:135738623T>C	ENST00000375845.3	-	9	3718	c.3688A>G	c.(3688-3690)Act>Gct	p.T1230A	MAP3K19_ENST00000392918.3_Missense_Mutation_p.T364A|MAP3K19_ENST00000392915.1_3'UTR|MAP3K19_ENST00000315513.3_Missense_Mutation_p.T91A|MAP3K19_ENST00000375844.3_Missense_Mutation_p.T412A|MAP3K19_ENST00000392917.3_Missense_Mutation_p.T362A|MAP3K19_ENST00000358371.4_Missense_Mutation_p.T1117A	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	1230	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										CAATATGGAGTCCCATGCATG	0.478																																						ENST00000375845.3																			0											c.(3688-3690)Act>Gct		mitogen-activated protein kinase kinase kinase 19							111.0	105.0	107.0					2																	135738623		2203	4300	6503	SO:0001583	missense	80122							g.chr2:135738623T>C	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.3688A>G	2.37:g.135738623T>C	ENSP00000365005:p.Thr1230Ala					MAP3K19_ENST00000392915.1_3'UTR|MAP3K19_ENST00000315513.3_Missense_Mutation_p.T91A|MAP3K19_ENST00000392917.3_Missense_Mutation_p.T362A|MAP3K19_ENST00000358371.4_Missense_Mutation_p.T1117A|MAP3K19_ENST00000392918.3_Missense_Mutation_p.T364A|MAP3K19_ENST00000375844.3_Missense_Mutation_p.T412A	p.T1230A	NM_025052.3	NP_079328.3					9	3718	-								B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	c.3688A>G	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	T	23.6	4.437859	0.83885	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000375844;ENST00000392918;ENST00000392917;ENST00000437365;ENST00000315513	T;T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82;0.82	5.65	5.65	0.86999	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	0.45867	D	0.000324	T	0.72882	0.3516	M	0.86805	2.84	0.53005	D	0.999968	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.999;0.998;0.998;0.999	T	0.78510	-0.2176	10	0.87932	D	0	.	15.0542	0.71901	0.0:0.0:0.0:1.0	.	362;1117;364;412;1230	B7ZMH9;Q56UN5-3;Q56UN5-4;Q56UN5-5;Q56UN5	.;.;.;.;YSK4_HUMAN	A	1230;1117;412;364;362;620;91	ENSP00000365005:T1230A;ENSP00000351140:T1117A;ENSP00000365004:T412A;ENSP00000376650:T364A;ENSP00000376649:T362A;ENSP00000392827:T620A;ENSP00000321160:T91A	ENSP00000321160:T91A	T	-	1	0	YSK4	135455093	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.087000	0.71362	2.139000	0.66308	0.482000	0.46254	ACT		0.478	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		21	31	0	0	0	1	0	21	31				
LAMA4	3910	broad.mit.edu	37	6	112528290	112528290	+	Silent	SNP	G	G	T	rs144933976		TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr6:112528290G>T	ENST00000230538.7	-	4	751	c.354C>A	c.(352-354)atC>atA	p.I118I	LAMA4_ENST00000389463.4_Silent_p.I118I|LAMA4_ENST00000424408.2_Silent_p.I118I|LAMA4_ENST00000522006.1_Silent_p.I118I|LAMA4_ENST00000524032.1_5'UTR	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	118	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TGGAATCTCCGATATAACCAT	0.502																																						ENST00000230538.7																			0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(352-354)atC>atA		laminin, alpha 4							93.0	83.0	86.0					6																	112528290		2203	4300	6503	SO:0001819	synonymous_variant	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112528290G>T		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.354C>A	6.37:g.112528290G>T						LAMA4_ENST00000424408.2_Silent_p.I118I|LAMA4_ENST00000522006.1_Silent_p.I118I|LAMA4_ENST00000524032.1_5'UTR|LAMA4_ENST00000389463.4_Silent_p.I118I	p.I118I	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	4	751	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	118			Laminin EGF-like 1.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Silent	SNP	ENST00000230538.7	37	c.354C>A	CCDS43491.1																																																																																				0.502	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		16	50	1	0	3.41278e-10	1	4.04478e-10	16	50				
TNFRSF6B	8771	broad.mit.edu	37	20	62326924	62326924	+	5'Flank	SNP	G	G	C			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr20:62326924G>C	ENST00000369996.1	+	0	0				RTEL1_ENST00000360203.5_Missense_Mutation_p.G1248A|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.G1248A|RTEL1_ENST00000370018.3_Intron|RTEL1_ENST00000370003.1_Missense_Mutation_p.G493A|RTEL1_ENST00000318100.4_Missense_Mutation_p.G1248A|RTEL1_ENST00000508582.2_Intron	NM_003823.3	NP_003814.1	O95407	TNF6B_HUMAN	tumor necrosis factor receptor superfamily, member 6b, decoy						apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	extracellular space (GO:0005615)	receptor activity (GO:0004872)			central_nervous_system(1)|lung(2)|skin(1)	4	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			CAGGGCTGTGGGGCAGAGGAC	0.672																																						ENST00000318100.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(3742-3744)gGg>gCg		regulator of telomere elongation helicase 1							33.0	40.0	38.0					20																	62326924		2184	4280	6464	SO:0001631	upstream_gene_variant	51750				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding	g.chr20:62326924G>C	AF104419	CCDS13532.1	20q13.33	2012-06-27						"""Tumor necrosis factor receptor superfamily"""	11921	protein-coding gene	gene with protein product		603361				9872321, 10318773	Standard	NM_003823		Approved	DcR3, DCR3, TR6, M68	uc002yfz.3	O95407	OTTHUMG00000143724		20.37:g.62326924G>C	Exception_encountered					RTEL1_ENST00000360203.5_Missense_Mutation_p.G1248A|RTEL1_ENST00000508582.2_Intron|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.G1248A|RTEL1_ENST00000370003.1_Missense_Mutation_p.G493A|RTEL1_ENST00000370018.3_Intron	p.G1248A			Q9NZ71	RTEL1_HUMAN	Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)		34	4570	+	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		0						Missense_Mutation	SNP	ENST00000369996.1	37	c.3743G>C	CCDS13532.1	.	.	.	.	.	.	.	.	.	.	G	2.586	-0.296376	0.05532	.	.	ENSG00000258366	ENST00000318100;ENST00000360203;ENST00000370003	T;T;T	0.80393	-1.37;-1.34;1.09	4.86	1.76	0.24704	.	1.052220	0.07540	N	0.913737	T	0.64238	0.2580	.	.	.	0.09310	N	1	B;B	0.14012	0.009;0.0	B;B	0.12156	0.007;0.002	T	0.48399	-0.9039	8	.	.	.	-10.1802	3.6368	0.08151	0.2904:0.2087:0.5009:0.0	.	493;1248	Q9NZ71-5;Q9NZ71-6	.;.	A	1248;1248;493	ENSP00000322287:G1248A;ENSP00000353332:G1248A;ENSP00000359020:G493A	.	G	+	2	0	AL353715.1	61797368	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.158000	0.16422	0.423000	0.26033	0.561000	0.74099	GGG		0.672	TNFRSF6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080182.1			9	46	0	0	0	1	0	9	46				
PRDM16	63976	broad.mit.edu	37	1	3328722	3328722	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr1:3328722C>T	ENST00000270722.5	+	9	2010	c.1961C>T	c.(1960-1962)gCg>gTg	p.A654V	PRDM16_ENST00000514189.1_Missense_Mutation_p.A655V|PRDM16_ENST00000378398.3_Missense_Mutation_p.A655V|PRDM16_ENST00000442529.2_Missense_Mutation_p.A654V|PRDM16_ENST00000378391.2_Missense_Mutation_p.A654V|PRDM16_ENST00000511072.1_Missense_Mutation_p.A655V|PRDM16_ENST00000441472.2_Missense_Mutation_p.A654V|PRDM16_ENST00000512462.1_3'UTR			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	654					brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|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)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GGCGGCTTGGCGCCCCCGGGG	0.682			T	EVI1	"""MDS, AML"""																																	ENST00000378398.3				Dom	yes		1	1p36.23-p33	63976	T	PR domain containing 16			L	EVI1		"""MDS, AML"""		0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59						c.(1963-1965)gCg>gTg		PR domain containing 16							26.0	35.0	32.0					1																	3328722		1924	4111	6035	SO:0001583	missense	63976				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr1:3328722C>T	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.1961C>T	1.37:g.3328722C>T	ENSP00000270722:p.Ala654Val					PRDM16_ENST00000514189.1_Missense_Mutation_p.A655V|PRDM16_ENST00000511072.1_Missense_Mutation_p.A655V|PRDM16_ENST00000442529.2_Missense_Mutation_p.A654V|PRDM16_ENST00000441472.2_Missense_Mutation_p.A654V|PRDM16_ENST00000378391.2_Missense_Mutation_p.A654V|PRDM16_ENST00000270722.5_Missense_Mutation_p.A654V|PRDM16_ENST00000512462.1_3'UTR	p.A655V			Q9HAZ2	PRD16_HUMAN		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)	10	2046	+	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)	654					A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP	ENST00000270722.5	37	c.1964C>T	CCDS41236.2	.	.	.	.	.	.	.	.	.	.	C	0.423	-0.907432	0.02434	.	.	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722;ENST00000512462;ENST00000408992;ENST00000509860	T;T;T;T;T;T;T;T;T	0.05382	3.47;3.49;3.51;3.51;3.5;3.5;3.51;3.46;3.45	5.09	-3.69	0.04450	.	0.701207	0.11727	N	0.535323	T	0.01627	0.0052	N	0.00801	-1.175	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.08055	0.0;0.003;0.001;0.001	T	0.49409	-0.8943	10	0.15499	T	0.54	.	8.4605	0.32925	0.0:0.1618:0.1358:0.7024	.	654;654;654;654	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	V	655;655;654;654;654;655;654;470;470;463	ENSP00000426975:A655V;ENSP00000367651:A655V;ENSP00000407968:A654V;ENSP00000405253:A654V;ENSP00000367643:A654V;ENSP00000421400:A655V;ENSP00000270722:A654V;ENSP00000422504:A470V;ENSP00000425796:A463V	ENSP00000270722:A654V	A	+	2	0	PRDM16	3318582	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-1.567000	0.02146	-0.260000	0.09418	-0.896000	0.02909	GCG		0.682	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		27	65	0	0	0	1	0	27	65				
WDR3	10885	broad.mit.edu	37	1	118476009	118476009	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr1:118476009A>G	ENST00000349139.5	+	2	114	c.67A>G	c.(67-69)Aaa>Gaa	p.K23E	WDR3_ENST00000369441.3_Missense_Mutation_p.K23E|WDR3_ENST00000471680.1_3'UTR	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	23						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		CGGCAGCCAAAAAGGTAATAT	0.468																																						ENST00000349139.4																			0				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49						c.(67-69)Aaa>Gaa		WD repeat domain 3							196.0	155.0	169.0					1																	118476009		2203	4300	6503	SO:0001583	missense	10885					nuclear membrane|nucleolus		g.chr1:118476009A>G	AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"""WD repeat domain containing"""	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.67A>G	1.37:g.118476009A>G	ENSP00000308179:p.Lys23Glu					WDR3_ENST00000369441.3_Missense_Mutation_p.K23E|WDR3_ENST00000471680.1_3'UTR	p.K23E	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)	2	114	+	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)	23						Missense_Mutation	SNP	ENST00000349139.5	37	c.67A>G	CCDS898.1	.	.	.	.	.	.	.	.	.	.	A	16.41	3.114505	0.56505	.	.	ENSG00000065183	ENST00000369441;ENST00000349139	T	0.51817	0.69	5.07	5.07	0.68467	WD40-repeat-containing domain (1);	0.043498	0.85682	D	0.000000	T	0.10594	0.0259	N	0.16098	0.37	0.28413	N	0.918095	P	0.46395	0.877	B	0.35182	0.197	T	0.17684	-1.0361	10	0.07175	T	0.84	-15.8584	14.8127	0.70008	1.0:0.0:0.0:0.0	.	23	Q9UNX4	WDR3_HUMAN	E	23	ENSP00000308179:K23E	ENSP00000308179:K23E	K	+	1	0	WDR3	118277532	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.961000	0.76042	1.890000	0.54733	0.460000	0.39030	AAA		0.468	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033720.2	NM_006784		20	61	0	0	0	1	0	20	61				
SPHKAP	80309	broad.mit.edu	37	2	228883495	228883495	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr2:228883495G>A	ENST00000392056.3	-	7	2121	c.2075C>T	c.(2074-2076)cCc>cTc	p.P692L	SPHKAP_ENST00000344657.5_Missense_Mutation_p.P692L	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	692						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)		GTTGTCATTGGGGTCGATTAT	0.393																																						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.(2074-2076)cCc>cTc		SPHK1 interactor, AKAP domain containing							252.0	228.0	236.0					2																	228883495		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228883495G>A		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.2075C>T	2.37:g.228883495G>A	ENSP00000375909:p.Pro692Leu					SPHKAP_ENST00000344657.5_Missense_Mutation_p.P692L	p.P692L	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	2121	-		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)	692					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.2075C>T	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	4.634	0.117933	0.08881	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.49720	0.77;0.77	5.62	3.74	0.42951	.	1.398420	0.04038	N	0.302717	T	0.45736	0.1357	L	0.59436	1.845	0.18873	N	0.999984	P;P	0.43094	0.799;0.478	B;B	0.35859	0.212;0.112	T	0.42068	-0.9473	10	0.45353	T	0.12	.	9.7402	0.40413	0.078:0.1429:0.7792:0.0	.	692;692	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	L	692	ENSP00000375909:P692L;ENSP00000339886:P692L	ENSP00000339886:P692L	P	-	2	0	SPHKAP	228591739	0.186000	0.23225	0.025000	0.17156	0.011000	0.07611	3.060000	0.49955	1.449000	0.47699	0.655000	0.94253	CCC		0.393	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		68	114	0	0	0	1	0	68	114				
SLC13A1	6561	broad.mit.edu	37	7	122755657	122755657	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr7:122755657C>T	ENST00000194130.2	-	15	1742	c.1703G>A	c.(1702-1704)gGc>gAc	p.G568D	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	568					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	AGTACATATGCCAAGCATAAC	0.433																																						ENST00000194130.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45						c.(1702-1704)gGc>gAc		solute carrier family 13 (sodium/sulfate symporter), member 1	Succinic acid(DB00139)						221.0	164.0	183.0					7																	122755657		2203	4300	6503	SO:0001583	missense	6561					integral to membrane|plasma membrane	sodium:sulfate symporter activity	g.chr7:122755657C>T		CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"""Solute carriers"""	10916	protein-coding gene	gene with protein product		606193	"""solute carrier family 13 (sodium/sulphate symporters), member 1"""			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.1703G>A	7.37:g.122755657C>T	ENSP00000194130:p.Gly568Asp					SLC13A1_ENST00000539873.1_3'UTR	p.G568D	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN			15	1742	-			568					Q9H5Z0	Missense_Mutation	SNP	ENST00000194130.2	37	c.1703G>A	CCDS5786.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.823092	0.50739	.	.	ENSG00000081800	ENST00000194130	T	0.02787	4.16	5.81	3.97	0.46021	.	0.096896	0.64402	D	0.000001	T	0.15825	0.0381	M	0.81802	2.56	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.72982	0.979;0.979	T	0.00953	-1.1502	10	0.45353	T	0.12	.	16.7676	0.85528	0.0:0.5092:0.4908:0.0	.	568;568	A4D0X1;Q9BZW2	.;S13A1_HUMAN	D	568	ENSP00000194130:G568D	ENSP00000194130:G568D	G	-	2	0	SLC13A1	122542893	1.000000	0.71417	0.706000	0.30403	0.355000	0.29361	2.534000	0.45676	0.762000	0.33152	-0.165000	0.13383	GGC		0.433	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	NM_022444		32	43	0	0	0	1	0	32	43				
ARID5B	84159	broad.mit.edu	37	10	63852132	63852132	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr10:63852132A>T	ENST00000279873.7	+	10	3320	c.2910A>T	c.(2908-2910)gaA>gaT	p.E970D	ARID5B_ENST00000309334.5_Missense_Mutation_p.E727D	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	970					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					AATACCCTGAATCGCTTTCAA	0.522																																						ENST00000279873.7																			0				NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(2908-2910)gaA>gaT		AT rich interactive domain 5B (MRF1-like)							81.0	87.0	85.0					10																	63852132		2203	4300	6503	SO:0001583	missense	84159				liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding	g.chr10:63852132A>T	M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"""-"""	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.2910A>T	10.37:g.63852132A>T	ENSP00000279873:p.Glu970Asp					ARID5B_ENST00000309334.5_Missense_Mutation_p.E727D	p.E970D	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN			10	3320	+	Prostate(12;0.016)|all_hematologic(501;0.215)		970					B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Missense_Mutation	SNP	ENST00000279873.7	37	c.2910A>T	CCDS31208.1	.	.	.	.	.	.	.	.	.	.	A	3.633	-0.075229	0.07184	.	.	ENSG00000150347	ENST00000279873;ENST00000309334	T;T	0.49432	0.79;0.78	5.59	-11.2	0.00127	.	0.348334	0.30365	N	0.009791	T	0.24890	0.0604	N	0.20685	0.6	0.23483	N	0.99759	B	0.09022	0.002	B	0.09377	0.004	T	0.02781	-1.1111	10	0.39692	T	0.17	-23.4724	16.1981	0.82043	0.1143:0.0796:0.7274:0.0787	.	970	Q14865	ARI5B_HUMAN	D	970;727	ENSP00000279873:E970D;ENSP00000308862:E727D	ENSP00000279873:E970D	E	+	3	2	ARID5B	63522138	0.000000	0.05858	0.000000	0.03702	0.157000	0.22087	-0.965000	0.03829	-2.174000	0.00772	-0.371000	0.07208	GAA		0.522	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482		18	98	0	0	0	1	0	18	98				
LRP5	4041	broad.mit.edu	37	11	68207277	68207277	+	Missense_Mutation	SNP	G	G	T	rs563067310		TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr11:68207277G>T	ENST00000294304.7	+	21	4487	c.4381G>T	c.(4381-4383)Gtg>Ttg	p.V1461L		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1461					adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GATGAGCTCCGTGAGCCTGAT	0.672																																						ENST00000294304.7																			0				autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(4381-4383)Gtg>Ttg		low density lipoprotein receptor-related protein 5							19.0	20.0	20.0					11																	68207277		2199	4293	6492	SO:0001583	missense	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68207277G>T	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.4381G>T	11.37:g.68207277G>T	ENSP00000294304:p.Val1461Leu						p.V1461L	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN			21	4487	+			1461					Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	37	c.4381G>T	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	G	4.459	0.085010	0.08583	.	.	ENSG00000162337	ENST00000294304	D	0.92805	-3.11	4.76	1.57	0.23409	.	0.408988	0.18473	U	0.140178	T	0.77691	0.4168	N	0.05124	-0.11	0.30667	N	0.753741	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.66921	-0.5801	10	0.16420	T	0.52	.	5.523	0.16943	0.5378:0.0:0.4622:0.0	.	1461;1461	Q9UES7;O75197	.;LRP5_HUMAN	L	1461	ENSP00000294304:V1461L	ENSP00000294304:V1461L	V	+	1	0	LRP5	67963853	0.018000	0.18449	0.953000	0.39169	0.985000	0.73830	0.257000	0.18369	0.614000	0.30107	0.555000	0.69702	GTG		0.672	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		7	12	1	0	6.5536e-12	1	7.80854e-12	7	12				
SLC22A15	55356	broad.mit.edu	37	1	116605438	116605438	+	Silent	SNP	G	G	A			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr1:116605438G>A	ENST00000369503.4	+	9	1357	c.1227G>A	c.(1225-1227)ctG>ctA	p.L409L		NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	409					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TGGGGAAGCTGACCATCAGTG	0.483																																						ENST00000369503.4																			0				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17						c.(1225-1227)ctG>ctA		solute carrier family 22, member 15							349.0	346.0	347.0					1																	116605438		2117	4234	6351	SO:0001819	synonymous_variant	55356				ion transport	integral to membrane	transmembrane transporter activity	g.chr1:116605438G>A	AY145501	CCDS44198.1	1p12	2013-05-22	2008-01-11		ENSG00000163393	ENSG00000163393		"""Solute carriers"""	20301	protein-coding gene	gene with protein product		608275	"""solute carrier family 22 (organic cation transporter), member 15"""			12372408	Standard	NM_018420		Approved	FLIPT1	uc001egb.4	Q8IZD6	OTTHUMG00000012008	ENST00000369503.4:c.1227G>A	1.37:g.116605438G>A							p.L409L	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	9	1357	+	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)	409					A8MUR3|Q6UXP5|Q8TAL9|Q9NSH5	Silent	SNP	ENST00000369503.4	37	c.1227G>A	CCDS44198.1																																																																																				0.483	SLC22A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033220.2	NM_018420		57	180	0	0	0	1	0	57	180				
XAF1	54739	broad.mit.edu	37	17	6674069	6674069	+	Silent	SNP	G	G	A	rs143903776	byFrequency	TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr17:6674069G>A	ENST00000361842.3	+	6	854	c.615G>A	c.(613-615)acG>acA	p.T205T	XAF1_ENST00000346752.4_Silent_p.T186T|XAF1_ENST00000441631.1_Silent_p.T205T	NM_017523.3	NP_059993.2	Q6GPH4	XAF1_HUMAN	XIAP associated factor 1	205					apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|negative regulation of protein complex assembly (GO:0031333)|response to interferon-beta (GO:0035456)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	6						AAACTTCCACGATGGAGAAAG	0.378													G|||	2	0.000399361	0.0	0.0029	5008	,	,		19260	0.0		0.0	False		,,,				2504	0.0					ENST00000361842.3																			0				large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	6						c.(613-615)acG>acA		XIAP associated factor 1		G	,	0,4406		0,0,2203	85.0	87.0	87.0		615,558	-9.4	0.0	17	dbSNP_134	87	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	XAF1	NM_017523.2,NM_199139.1	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	205/302,186/283	6674069	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	54739				apoptosis|type I interferon-mediated signaling pathway	mitochondrion|nucleus	zinc ion binding	g.chr17:6674069G>A	X99699	CCDS11080.1, CCDS11081.1	17p13.2	2010-03-19			ENSG00000132530	ENSG00000132530			30932	protein-coding gene	gene with protein product		606717				12029096, 11175744	Standard	NM_199139		Approved	BIRC4BP, XIAPAF1, HSXIAPAF1	uc002gdn.3	Q6GPH4		ENST00000361842.3:c.615G>A	17.37:g.6674069G>A						XAF1_ENST00000441631.1_Silent_p.T205T|XAF1_ENST00000346752.4_Silent_p.T186T	p.T205T	NM_017523.3	NP_059993.2	Q6GPH4	XAF1_HUMAN			6	854	+			205					A2T931|A2T932|A8K2L1|A8K9Y3|D3DTM6|Q6MZE8|Q8N557|Q99982	Silent	SNP	ENST00000361842.3	37	c.615G>A	CCDS11080.1																																																																																				0.378	XAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439643.5	NM_017523		16	59	0	0	0	1	0	16	59				
DNAJB8	165721	broad.mit.edu	37	3	128181979	128181979	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr3:128181979T>A	ENST00000469083.1	-	2	2667	c.110A>T	c.(109-111)gAc>gTc	p.D37V	DNAJB8_ENST00000319153.3_Missense_Mutation_p.D37V|DNAJB8-AS1_ENST00000471626.1_RNA			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	37	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				chaperone-mediated protein folding (GO:0061077)|negative regulation of inclusion body assembly (GO:0090084)	cytosol (GO:0005829)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|protein binding involved in protein folding (GO:0044183)|unfolded protein binding (GO:0051082)			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		CTCCTTATTGTCAGGGTTCTT	0.572																																						ENST00000469083.1																			0				kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11						c.(109-111)gAc>gTc		DnaJ (Hsp40) homolog, subfamily B, member 8							149.0	150.0	149.0					3																	128181979		2203	4300	6503	SO:0001583	missense	165721				protein folding		heat shock protein binding|unfolded protein binding	g.chr3:128181979T>A		CCDS3048.1	3q21.3	2014-01-21			ENSG00000179407	ENSG00000179407		"""Heat shock proteins / DNAJ (HSP40)"""	23699	protein-coding gene	gene with protein product		611337					Standard	NM_153330		Approved	MGC33884, CT156	uc003ekk.2	Q8NHS0	OTTHUMG00000159690	ENST00000469083.1:c.110A>T	3.37:g.128181979T>A	ENSP00000417418:p.Asp37Val					DNAJB8_ENST00000319153.3_Missense_Mutation_p.D37V	p.D37V			Q8NHS0	DNJB8_HUMAN		GBM - Glioblastoma multiforme(114;0.177)	2	2667	-			37			J.		B3KWV7	Missense_Mutation	SNP	ENST00000469083.1	37	c.110A>T	CCDS3048.1	.	.	.	.	.	.	.	.	.	.	T	13.84	2.358318	0.41801	.	.	ENSG00000179407	ENST00000469083;ENST00000319153	T;T	0.75938	-0.98;-0.98	4.4	4.4	0.53042	Heat shock protein DnaJ, N-terminal (5);	0.221979	0.44902	D	0.000411	T	0.74741	0.3756	M	0.67953	2.075	0.80722	D	1	P	0.46512	0.879	P	0.48598	0.583	T	0.76854	-0.2805	10	0.87932	D	0	.	6.6764	0.23095	0.0:0.0848:0.1551:0.7601	.	37	Q8NHS0	DNJB8_HUMAN	V	37	ENSP00000417418:D37V;ENSP00000316053:D37V	ENSP00000316053:D37V	D	-	2	0	DNAJB8	129664669	0.982000	0.34865	0.867000	0.34043	0.028000	0.11728	3.316000	0.51960	1.620000	0.50308	0.402000	0.26972	GAC		0.572	DNAJB8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356933.1	NM_153330		35	135	0	0	0	1	0	35	135				
MS4A4A	51338	broad.mit.edu	37	11	60068506	60068506	+	Silent	SNP	A	A	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr11:60068506A>T	ENST00000337908.4	+	4	453	c.363A>T	c.(361-363)gcA>gcT	p.A121A	MS4A4A_ENST00000355131.3_Silent_p.A102A|MS4A4A_ENST00000395016.3_Silent_p.A102A|MS4A4A_ENST00000532114.1_Silent_p.A121A	NM_148975.2	NP_683876.1	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	121						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						CAATTGCAGCAGGAATTAGAA	0.308																																						ENST00000355131.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						c.(304-306)gcA>gcT		membrane-spanning 4-domains, subfamily A, member 4A							73.0	74.0	74.0					11																	60068506		2203	4300	6503	SO:0001819	synonymous_variant	51338					integral to membrane	receptor activity	g.chr11:60068506A>T	AB013102	CCDS7982.1, CCDS58135.1	11q12	2012-02-28	2012-02-28		ENSG00000110079	ENSG00000110079			13371	protein-coding gene	gene with protein product		606547	"""membrane-spanning 4-domains, subfamily A, member 4"""	MS4A4		11245982, 11401424	Standard	NM_148975		Approved	CD20L1, MS4A7	uc001noz.3	Q96JQ5	OTTHUMG00000154949	ENST00000337908.4:c.363A>T	11.37:g.60068506A>T						MS4A4A_ENST00000395016.3_Silent_p.A102A|MS4A4A_ENST00000532114.1_Silent_p.A121A|MS4A4A_ENST00000337908.4_Silent_p.A121A	p.A102A	NM_024021.3	NP_076926.2	Q96JQ5	M4A4A_HUMAN			5	529	+			121					Q8TEZ6|Q96PG7|Q9BY18|Q9H3V3|Q9P1S3	Silent	SNP	ENST00000337908.4	37	c.306A>T	CCDS7982.1																																																																																				0.308	MS4A4A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337774.2			3	21	0	0	0	1	0	3	21				
LRFN2	57497	broad.mit.edu	37	6	40400630	40400630	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr6:40400630T>C	ENST00000338305.6	-	2	765	c.223A>G	c.(223-225)Atg>Gtg	p.M75V		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	75						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGCCCCGTCATGTTGGCAAAG	0.602																																						ENST00000338305.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(223-225)Atg>Gtg		leucine rich repeat and fibronectin type III domain containing 2							61.0	55.0	57.0					6																	40400630		2203	4300	6503	SO:0001583	missense	57497					cell junction|integral to membrane|postsynaptic membrane		g.chr6:40400630T>C	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.223A>G	6.37:g.40400630T>C	ENSP00000345985:p.Met75Val						p.M75V	NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN			2	765	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		75					A5PKU3|Q5SYP9	Missense_Mutation	SNP	ENST00000338305.6	37	c.223A>G	CCDS34443.1	.	.	.	.	.	.	.	.	.	.	T	18.32	3.598309	0.66332	.	.	ENSG00000156564	ENST00000338305	T	0.58506	0.33	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.55816	0.1944	N	0.25890	0.77	0.80722	D	1	P	0.50272	0.933	D	0.65773	0.938	T	0.63328	-0.6662	10	0.66056	D	0.02	.	14.8899	0.70600	0.0:0.0:0.0:1.0	.	75	Q9ULH4	LRFN2_HUMAN	V	75	ENSP00000345985:M75V	ENSP00000345985:M75V	M	-	1	0	LRFN2	40508608	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.040000	0.89188	2.209000	0.71365	0.533000	0.62120	ATG		0.602	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372		15	60	0	0	0	1	0	15	60				
KLC4	89953	broad.mit.edu	37	6	43030739	43030739	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr6:43030739G>T	ENST00000394056.2	+	4	838	c.343G>T	c.(343-345)Gag>Tag	p.E115*	KLC4_ENST00000259708.3_Nonsense_Mutation_p.E133*|KLC4_ENST00000453940.2_Intron|KLC4_ENST00000479388.1_Nonsense_Mutation_p.E115*|KLC4_ENST00000347162.5_Nonsense_Mutation_p.E115*|KLC4_ENST00000458460.2_Nonsense_Mutation_p.E115*|KLC4_ENST00000394058.1_Nonsense_Mutation_p.E115*			Q9NSK0	KLC4_HUMAN	kinesin light chain 4	115						cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			GCTATGCCAGGAGAACCAGTG	0.627																																						ENST00000394056.2																			0				endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23						c.(343-345)Gag>Tag		kinesin light chain 4							31.0	35.0	33.0					6																	43030739		2202	4297	6499	SO:0001587	stop_gained	89953					cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding	g.chr6:43030739G>T	AK055293	CCDS4882.1, CCDS4883.1, CCDS47429.1, CCDS75459.1	6p21.1	2013-01-10	2005-09-13	2005-09-13	ENSG00000137171	ENSG00000137171		"""Tetratricopeptide (TTC) repeat domain containing"""	21624	protein-coding gene	gene with protein product			"""kinesin-like 8"""	KNSL8			Standard	NM_001289034		Approved	bA387M24.3	uc003otw.1	Q9NSK0	OTTHUMG00000014720	ENST00000394056.2:c.343G>T	6.37:g.43030739G>T	ENSP00000377620:p.Glu115*					KLC4_ENST00000259708.3_Nonsense_Mutation_p.E133*|KLC4_ENST00000479388.1_Nonsense_Mutation_p.E115*|KLC4_ENST00000458460.2_Nonsense_Mutation_p.E115*|KLC4_ENST00000347162.5_Nonsense_Mutation_p.E115*|KLC4_ENST00000394058.1_Nonsense_Mutation_p.E115*|KLC4_ENST00000453940.2_Intron	p.E115*			Q9NSK0	KLC4_HUMAN	all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)		4	838	+			115					B3KNY4|B3KPI3|B3KSQ3|B4DME9|Q66K28|Q96EG6	Nonsense_Mutation	SNP	ENST00000394056.2	37	c.343G>T	CCDS4883.1	.	.	.	.	.	.	.	.	.	.	G	34	5.354510	0.95854	.	.	ENSG00000137171	ENST00000347162;ENST00000479632;ENST00000470728;ENST00000458460;ENST00000259708;ENST00000479388;ENST00000394056;ENST00000394058	.	.	.	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-27.5031	19.1658	0.93557	0.0:0.0:1.0:0.0	.	.	.	.	X	115;28;93;115;133;115;115;115	.	ENSP00000259708:E133X	E	+	1	0	KLC4	43138717	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.618000	0.88619	0.555000	0.69702	GAG		0.627	KLC4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040579.2	NM_138343		15	68	1	0	5.3912e-06	1	6.00811e-06	15	68				
F8	2157	broad.mit.edu	37	X	154158240	154158240	+	Silent	SNP	A	A	G	rs201930056		TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chrX:154158240A>G	ENST00000360256.4	-	14	4025	c.3825T>C	c.(3823-3825)gaT>gaC	p.D1275D		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1275	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TATTTGTTGAATCATTTAATG	0.373													A|||	2	0.000529801	0.0015	0.0	3775	,	,		13703	0.0		0.0	False		,,,				2504	0.0					ENST00000360256.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120						c.(3823-3825)gaT>gaC		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	A		2,3833		0,2,1630,571	132.0	114.0	120.0		3825	1.6	0.0	X		120	1,6724		0,1,2426,1871	no	coding-synonymous	F8	NM_000132.3		0,3,4056,2442	GG,GA,AA,A		0.0149,0.0522,0.0284		1275/2352	154158240	3,10557	2203	4298	6501	SO:0001819	synonymous_variant	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154158240A>G	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.3825T>C	X.37:g.154158240A>G							p.D1275D	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			14	4025	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		1275			B.		Q14286|Q5HY69	Silent	SNP	ENST00000360256.4	37	c.3825T>C	CCDS35457.1																																																																																				0.373	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			9	21	0	0	0	1	0	9	21				
CHST10	9486	broad.mit.edu	37	2	101009787	101009787	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr2:101009787C>G	ENST00000264249.3	-	7	1376	c.991G>C	c.(991-993)Gac>Cac	p.D331H	CHST10_ENST00000409701.1_Missense_Mutation_p.D331H|CHST10_ENST00000542617.1_Missense_Mutation_p.D379H	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	331					carbohydrate biosynthetic process (GO:0016051)|cell adhesion (GO:0007155)|learning (GO:0007612)|long-term memory (GO:0007616)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	HNK-1 sulfotransferase activity (GO:0016232)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						CGTCGGATGTCTCGTTTGCTG	0.483																																						ENST00000264249.3																			0				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						c.(991-993)Gac>Cac		carbohydrate sulfotransferase 10							142.0	131.0	135.0					2																	101009787		2203	4300	6503	SO:0001583	missense	9486				carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction		g.chr2:101009787C>G	BC010441	CCDS2047.1	2q11.2	2008-02-05			ENSG00000115526	ENSG00000115526		"""Sulfotransferases, membrane-bound"""	19650	protein-coding gene	gene with protein product		606376				12080076	Standard	NM_004854		Approved	HNK-1ST	uc002tam.3	O43529	OTTHUMG00000130669	ENST00000264249.3:c.991G>C	2.37:g.101009787C>G	ENSP00000264249:p.Asp331His					CHST10_ENST00000542617.1_Missense_Mutation_p.D379H|CHST10_ENST00000409701.1_Missense_Mutation_p.D331H	p.D331H	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN			7	1376	-			331					Q53T18	Missense_Mutation	SNP	ENST00000264249.3	37	c.991G>C	CCDS2047.1	.	.	.	.	.	.	.	.	.	.	C	18.89	3.720136	0.68844	.	.	ENSG00000115526	ENST00000264249;ENST00000542617;ENST00000409701	T;T;T	0.73575	1.93;-0.76;1.93	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.79569	0.4468	L	0.28649	0.875	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.72561	-0.4256	10	0.15499	T	0.54	-44.1709	20.2963	0.98556	0.0:1.0:0.0:0.0	.	331	O43529	CHSTA_HUMAN	H	331;379;331	ENSP00000264249:D331H;ENSP00000438869:D379H;ENSP00000387309:D331H	ENSP00000264249:D331H	D	-	1	0	CHST10	100376219	1.000000	0.71417	0.994000	0.49952	0.987000	0.75469	5.920000	0.70017	2.813000	0.96785	0.655000	0.94253	GAC		0.483	CHST10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253162.1	NM_004854		11	70	0	0	0	1	0	11	70				
LTA	4049	broad.mit.edu	37	6	31541268	31541268	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr6:31541268C>G	ENST00000454783.1	+	4	674	c.416C>G	c.(415-417)tCc>tGc	p.S139C	TNF_ENST00000449264.2_5'Flank|LTA_ENST00000418386.2_Missense_Mutation_p.S139C	NM_001159740.2	NP_001153212.1	P01374	TNFB_HUMAN	lymphotoxin alpha	139					apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|defense response to Gram-positive bacterium (GO:0050830)|humoral immune response (GO:0006959)|lymph node development (GO:0048535)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of growth of symbiont in host (GO:0044130)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chronic inflammatory response to antigenic stimulus (GO:0002876)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of interferon-gamma production (GO:0032729)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|membrane (GO:0016020)	receptor binding (GO:0005102)			endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9					Etanercept(DB00005)	CAGCTCTTCTCCTCCCAGTAC	0.597																																						ENST00000454783.1																			0				endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9						c.(415-417)tCc>tGc		lymphotoxin alpha	Etanercept(DB00005)						191.0	173.0	179.0					6																	31541268		2203	4300	6503	SO:0001583	missense	4049				cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr6:31541268C>G	X01393	CCDS4701.1	6p21.3	2013-05-22	2013-05-22		ENSG00000226979	ENSG00000226979		"""Tumor necrosis factor (ligand) superfamily"""	6709	protein-coding gene	gene with protein product	"""TNF superfamily member 1"""	153440	"""lymphotoxin alpha (TNF superfamily, member 1)"""	TNFB		2995927, 3001529	Standard	NM_001159740		Approved	TNFSF1, LT	uc011dnu.2	P01374	OTTHUMG00000031135	ENST00000454783.1:c.416C>G	6.37:g.31541268C>G	ENSP00000403495:p.Ser139Cys					LTA_ENST00000418386.2_Missense_Mutation_p.S139C	p.S139C	NM_001159740.2	NP_001153212.1	P01374	TNFB_HUMAN			4	674	+			139					Q8N4C3|Q9UKS8	Missense_Mutation	SNP	ENST00000454783.1	37	c.416C>G	CCDS4701.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.389505	0.61956	.	.	ENSG00000226979	ENST00000454783;ENST00000418386	T;T	0.66638	-0.22;-0.22	5.16	5.16	0.70880	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.129985	0.53938	D	0.000053	T	0.79627	0.4478	M	0.85859	2.78	0.53005	D	0.999968	D	0.89917	1.0	D	0.70487	0.969	T	0.82534	-0.0409	10	0.87932	D	0	-21.6429	14.0181	0.64536	0.0:1.0:0.0:0.0	.	139	P01374	TNFB_HUMAN	C	139	ENSP00000403495:S139C;ENSP00000413450:S139C	ENSP00000413450:S139C	S	+	2	0	LTA	31649247	0.928000	0.31464	1.000000	0.80357	0.987000	0.75469	2.923000	0.48868	2.676000	0.91093	0.655000	0.94253	TCC		0.597	LTA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259097.1			26	130	0	0	0	1	0	26	130				
FLT4	2324	broad.mit.edu	37	5	180055919	180055919	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr5:180055919C>T	ENST00000261937.6	-	8	1144	c.1066G>A	c.(1066-1068)Gtg>Atg	p.V356M	FLT4_ENST00000502649.1_Missense_Mutation_p.V356M|FLT4_ENST00000393347.3_Missense_Mutation_p.V356M|FLT4_ENST00000424276.2_5'UTR	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	356	Ig-like C2-type 4.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCCAGCTTCACGGGCAGCTTC	0.627																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(1066-1068)Gtg>Atg		fms-related tyrosine kinase 4	Sorafenib(DB00398)|Sunitinib(DB01268)						30.0	32.0	31.0					5																	180055919		2200	4292	6492	SO:0001583	missense	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180055919C>T	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.1066G>A	5.37:g.180055919C>T	ENSP00000261937:p.Val356Met					FLT4_ENST00000502649.1_Missense_Mutation_p.V356M|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Missense_Mutation_p.V356M	p.V356M	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	8	1144	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	356			Ig-like C2-type 4.		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	c.1066G>A	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.165058	0.57476	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	T;T;T	0.81078	-1.45;-1.45;-1.45	4.82	4.82	0.62117	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.89118	0.6624	M	0.72894	2.215	0.52501	D	0.999956	D;D;D	0.89917	1.0;0.978;0.978	D;P;P	0.97110	1.0;0.832;0.861	D	0.89439	0.3722	9	0.51188	T	0.08	.	18.2874	0.90119	0.0:1.0:0.0:0.0	.	356;356;356	P35916-3;E9PD35;P35916	.;.;VGFR3_HUMAN	M	356;356;356;166	ENSP00000261937:V356M;ENSP00000377016:V356M;ENSP00000426057:V356M	ENSP00000261937:V356M	V	-	1	0	FLT4	179988525	1.000000	0.71417	0.995000	0.50966	0.753000	0.42808	5.320000	0.65841	2.401000	0.81631	0.561000	0.74099	GTG		0.627	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			7	45	0	0	0	1	0	7	45				
CCDC96	257236	broad.mit.edu	37	4	7043919	7043919	+	Silent	SNP	C	C	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr4:7043919C>T	ENST00000310085.4	-	1	809	c.747G>A	c.(745-747)ctG>ctA	p.L249L	TADA2B_ENST00000512388.1_5'Flank|TADA2B_ENST00000310074.7_5'Flank|RP11-367J11.2_ENST00000500031.1_RNA	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	249										endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						TCTTGTGCTGCAGGTATAGGT	0.652																																						ENST00000310085.4																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						c.(745-747)ctG>ctA		coiled-coil domain containing 96							55.0	61.0	59.0					4																	7043919		2202	4299	6501	SO:0001819	synonymous_variant	257236							g.chr4:7043919C>T	AK075056	CCDS3395.1	4p16.1	2008-02-05			ENSG00000173013	ENSG00000173013			26900	protein-coding gene	gene with protein product							Standard	NM_153376		Approved	FLJ90575	uc003gjv.2	Q2M329	OTTHUMG00000125511	ENST00000310085.4:c.747G>A	4.37:g.7043919C>T						RP11-367J11.2_ENST00000500031.1_RNA	p.L249L	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN			1	809	-			249					Q8N2I7	Silent	SNP	ENST00000310085.4	37	c.747G>A	CCDS3395.1																																																																																				0.652	CCDC96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246838.1	NM_153376		32	107	0	0	0	1	0	32	107				
GRXCR1	389207	broad.mit.edu	37	4	42895620	42895620	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr4:42895620G>C	ENST00000399770.2	+	1	337	c.337G>C	c.(337-339)Gtg>Ctg	p.V113L	RN7SKP82_ENST00000516786.1_RNA	NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	113					auditory receptor cell differentiation (GO:0042491)|cell redox homeostasis (GO:0045454)|inner ear receptor cell development (GO:0060119)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of phosphatase activity (GO:0010923)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of sound (GO:0007605)|vestibular receptor cell development (GO:0060118)	kinocilium (GO:0060091)|stereocilium (GO:0032420)	electron carrier activity (GO:0009055)|protein disulfide oxidoreductase activity (GO:0015035)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						CAAATACAAAGTGAGTGCTGG	0.433																																						ENST00000399770.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						c.(337-339)Gtg>Ctg		glutaredoxin, cysteine rich 1							108.0	109.0	108.0					4																	42895620		1953	4150	6103	SO:0001583	missense	389207				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity	g.chr4:42895620G>C		CCDS43225.1	4p14	2014-06-12			ENSG00000215203	ENSG00000215203			31673	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 88"""	613283	"""deafness, autosomal recessive 25"""	DFNB25		20137778	Standard	NM_001080476		Approved	PPP1R88	uc003gwt.3	A8MXD5	OTTHUMG00000160434	ENST00000399770.2:c.337G>C	4.37:g.42895620G>C	ENSP00000382670:p.Val113Leu						p.V113L	NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN			1	337	+			113						Missense_Mutation	SNP	ENST00000399770.2	37	c.337G>C	CCDS43225.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.582415	0.86748	.	.	ENSG00000215203	ENST00000399770	T	0.44482	0.92	5.87	5.87	0.94306	.	0.000000	0.64402	U	0.000002	T	0.55401	0.1918	L	0.34521	1.04	0.80722	D	1	D	0.58970	0.984	D	0.70016	0.967	T	0.48758	-0.9007	10	0.40728	T	0.16	-4.7515	19.1914	0.93667	0.0:0.0:1.0:0.0	.	113	A8MXD5	GRCR1_HUMAN	L	113	ENSP00000382670:V113L	ENSP00000382670:V113L	V	+	1	0	GRXCR1	42590377	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	9.470000	0.97683	2.785000	0.95823	0.650000	0.86243	GTG		0.433	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360576.1	NM_001080476		25	82	0	0	0	1	0	25	82				
TKT	7086	broad.mit.edu	37	3	53260883	53260883	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr3:53260883T>C	ENST00000462138.1	-	13	1673	c.1585A>G	c.(1585-1587)Atc>Gtc	p.I529V	TKT_ENST00000423525.2_Missense_Mutation_p.I529V|TKT_ENST00000296289.6_Missense_Mutation_p.I482V|TKT_ENST00000423516.1_Missense_Mutation_p.I537V|TKT_ENST00000461139.1_5'UTR			P29401	TKT_HUMAN	transketolase	529					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|glyceraldehyde-3-phosphate biosynthetic process (GO:0046166)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|regulation of growth (GO:0040008)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|peroxisome (GO:0005777)|vesicle (GO:0031982)	cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|transketolase activity (GO:0004802)			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)		AGCACGCGGATGTTGATCTTT	0.622																																					Colon(133;1506 2347 35238 42177)	ENST00000462138.1																			0				endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1585-1587)Atc>Gtc		transketolase	Thiamine(DB00152)						132.0	123.0	126.0					3																	53260883		2203	4300	6503	SO:0001583	missense	7086				energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity	g.chr3:53260883T>C		CCDS2871.1, CCDS58834.1	3p14.3	2008-07-31	2008-07-31		ENSG00000163931	ENSG00000163931	2.2.1.1		11834	protein-coding gene	gene with protein product	"""Wernicke-Korsakoff syndrome"""	606781				1567394	Standard	NM_001064		Approved		uc011beq.2	P29401	OTTHUMG00000158192	ENST00000462138.1:c.1585A>G	3.37:g.53260883T>C	ENSP00000417773:p.Ile529Val					TKT_ENST00000423525.2_Missense_Mutation_p.I529V|TKT_ENST00000296289.6_Missense_Mutation_p.I482V|TKT_ENST00000461139.1_5'UTR|TKT_ENST00000423516.1_Missense_Mutation_p.I537V	p.I529V			P29401	TKT_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	13	1673	-		Prostate(884;0.0959)	529					A8K089|B4DE31|E7EPA7|Q8TBA3|Q96HH3	Missense_Mutation	SNP	ENST00000462138.1	37	c.1585A>G	CCDS2871.1	.	.	.	.	.	.	.	.	.	.	T	3.718	-0.058122	0.07317	.	.	ENSG00000163931	ENST00000462138;ENST00000423525;ENST00000423516;ENST00000296289;ENST00000414014	T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75	5.14	3.95	0.45737	Transketolase, C-terminal (1);Transketolase, C-terminal/Pyruvate-ferredoxin oxidoreductase, domain II (1);Transketolase-like, C-terminal (1);	0.046348	0.85682	N	0.000000	T	0.49626	0.1568	N	0.05608	-0.01	0.51233	D	0.999917	B;B;B	0.09022	0.0;0.001;0.002	B;B;B	0.20384	0.0;0.029;0.021	T	0.43180	-0.9407	10	0.02654	T	1	-26.9673	11.0466	0.47863	0.0:0.0743:0.0:0.9257	.	537;446;529	E7EPA7;B3KSI4;P29401	.;.;TKT_HUMAN	V	529;529;537;482;363	ENSP00000417773:I529V;ENSP00000405455:I529V;ENSP00000391481:I537V;ENSP00000296289:I482V	ENSP00000296289:I482V	I	-	1	0	TKT	53235923	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	2.800000	0.47900	0.771000	0.33359	0.533000	0.62120	ATC		0.622	TKT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350356.1			11	32	0	0	0	1	0	11	32				
SGPP2	130367	broad.mit.edu	37	2	223389711	223389711	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr2:223389711G>T	ENST00000321276.7	+	4	693	c.607G>T	c.(607-609)Gtg>Ttg	p.V203L		NM_152386.2	NP_689599.2	Q8IWX5	SGPP2_HUMAN	sphingosine-1-phosphate phosphatase 2	203					dephosphorylation (GO:0016311)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	sphingosine-1-phosphate phosphatase activity (GO:0042392)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	18		Renal(207;0.0376)		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)		TTCCACCTTGGTGTGTCTCAG	0.473																																						ENST00000321276.7																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	18						c.(607-609)Gtg>Ttg		sphingosine-1-phosphate phosphatase 2							264.0	204.0	224.0					2																	223389711		2203	4300	6503	SO:0001583	missense	130367				sphingosine metabolic process	endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity	g.chr2:223389711G>T	AF542512	CCDS2453.1	2q36.3	2010-05-26	2010-05-26		ENSG00000163082	ENSG00000163082			19953	protein-coding gene	gene with protein product		612827				12411432	Standard	NM_152386		Approved	SPP2, FLJ39004	uc010zlo.2	Q8IWX5	OTTHUMG00000133156	ENST00000321276.7:c.607G>T	2.37:g.223389711G>T	ENSP00000315137:p.Val203Leu						p.V203L	NM_152386.2	NP_689599.2	Q8IWX5	SGPP2_HUMAN		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)	4	693	+		Renal(207;0.0376)	203					A3KPB4|Q8N8Q6	Missense_Mutation	SNP	ENST00000321276.7	37	c.607G>T	CCDS2453.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.043221	0.93685	.	.	ENSG00000163082	ENST00000321276	T	0.09630	2.96	4.89	4.89	0.63831	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.64402	D	0.000003	T	0.36880	0.0983	M	0.81682	2.555	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.20338	-1.0278	10	0.48119	T	0.1	-21.7592	18.0824	0.89445	0.0:0.0:1.0:0.0	.	203	Q8IWX5	SGPP2_HUMAN	L	203	ENSP00000315137:V203L	ENSP00000315137:V203L	V	+	1	0	SGPP2	223097955	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.192000	0.94947	2.263000	0.75096	0.655000	0.94253	GTG		0.473	SGPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256856.2			10	27	1	0	0.000673444	1	0.000708223	10	27				
NCCRP1	342897	broad.mit.edu	37	19	39691035	39691035	+	Silent	SNP	C	C	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr19:39691035C>T	ENST00000339852.4	+	5	620	c.598C>T	c.(598-600)Ctg>Ttg	p.L200L		NM_001001414.1	NP_001001414.1	Q6ZVX7	FBX50_HUMAN	non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)	200	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.				positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						GCATGTCTGGCTGCTGGCGGC	0.657																																					Melanoma(107;1207 1556 14956 29427 52130)	ENST00000339852.4																			0				kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						c.(598-600)Ctg>Ttg		non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)							73.0	82.0	79.0					19																	39691035		2203	4299	6502	SO:0001819	synonymous_variant	342897				protein catabolic process			g.chr19:39691035C>T	AK123941, BC067874	CCDS12529.1	19q13.2	2013-07-31	2008-11-19		ENSG00000188505	ENSG00000188505			33739	protein-coding gene	gene with protein product		615901					Standard	NM_001001414		Approved	LOC342897, NCCRP-1, FBXO50	uc002okq.1	Q6ZVX7		ENST00000339852.4:c.598C>T	19.37:g.39691035C>T							p.L200L	NM_001001414.1	NP_001001414.1	Q6ZVX7	NCRP1_HUMAN			5	620	+			200			FBA.		Q6NVV5	Silent	SNP	ENST00000339852.4	37	c.598C>T	CCDS12529.1																																																																																				0.657	NCCRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463829.1	NM_001001414		33	165	0	0	0	1	0	33	165				
FLT4	2324	broad.mit.edu	37	5	180040050	180040050	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr5:180040050C>T	ENST00000261937.6	-	25	3470	c.3392G>A	c.(3391-3393)gGc>gAc	p.G1131D	FLT4_ENST00000502649.1_Missense_Mutation_p.G1131D|FLT4_ENST00000393347.3_Missense_Mutation_p.G1131D	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1131	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.G1131D(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CATCCTTGTGCCGTCTCTCAG	0.672																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6																			2	Substitution - Missense(2)	p.G1131D(2)	lung(2)	NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(3391-3393)gGc>gAc		fms-related tyrosine kinase 4	Sorafenib(DB00398)|Sunitinib(DB01268)						63.0	70.0	68.0					5																	180040050		2203	4300	6503	SO:0001583	missense	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180040050C>T	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.3392G>A	5.37:g.180040050C>T	ENSP00000261937:p.Gly1131Asp					FLT4_ENST00000502649.1_Missense_Mutation_p.G1131D|FLT4_ENST00000393347.3_Missense_Mutation_p.G1131D	p.G1131D	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	25	3470	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	1131			Protein kinase.		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	c.3392G>A	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	c	24.8	4.572323	0.86542	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649	D;D;D	0.84298	-1.83;-1.83;-1.83	3.89	3.89	0.44902	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.90594	0.7051	L	0.56396	1.775	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91942	0.5564	9	0.87932	D	0	.	16.434	0.83869	0.0:1.0:0.0:0.0	.	1131;1131	E9PD35;P35916	.;VGFR3_HUMAN	D	1131	ENSP00000261937:G1131D;ENSP00000377016:G1131D;ENSP00000426057:G1131D	ENSP00000261937:G1131D	G	-	2	0	FLT4	179972656	1.000000	0.71417	0.947000	0.38551	0.795000	0.44927	7.634000	0.83273	2.187000	0.69744	0.457000	0.33378	GGC		0.672	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			5	103	0	0	0	1	0	5	103				
PTPRN2	5799	broad.mit.edu	37	7	157959748	157959748	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr7:157959748C>T	ENST00000389418.4	-	6	794	c.785G>A	c.(784-786)aGc>aAc	p.S262N	PTPRN2_ENST00000389413.3_Missense_Mutation_p.S262N|PTPRN2_ENST00000409483.1_Missense_Mutation_p.S224N|PTPRN2_ENST00000389416.4_Missense_Mutation_p.S245N|PTPRN2_ENST00000404321.2_Missense_Mutation_p.S285N	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	262					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TGGCTCCAGGCTGCCCTCCCC	0.652																																						ENST00000389413.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86						c.(784-786)aGc>aAc		protein tyrosine phosphatase, receptor type, N polypeptide 2							13.0	12.0	13.0					7																	157959748		2193	4291	6484	SO:0001583	missense	5799					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:157959748C>T	AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.785G>A	7.37:g.157959748C>T	ENSP00000374069:p.Ser262Asn					PTPRN2_ENST00000404321.2_Missense_Mutation_p.S285N|PTPRN2_ENST00000389418.4_Missense_Mutation_p.S262N|PTPRN2_ENST00000389416.4_Missense_Mutation_p.S245N|PTPRN2_ENST00000409483.1_Missense_Mutation_p.S224N	p.S262N	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)	6	888	-	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	262					E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	ENST00000389418.4	37	c.785G>A	CCDS5947.1	.	.	.	.	.	.	.	.	.	.	C	4.383	0.070623	0.08436	.	.	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	T;T;T;T;T	0.03496	3.92;3.92;3.93;3.93;3.91	4.07	0.527	0.17084	.	0.483859	0.15422	N	0.263185	T	0.02012	0.0063	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.48581	-0.9023	10	0.17832	T	0.49	.	5.5714	0.17198	0.0:0.3958:0.0:0.6042	.	285;224;262;245;262	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	N	224;262;245;262;285	ENSP00000387114:S224N;ENSP00000374064:S262N;ENSP00000374067:S245N;ENSP00000374069:S262N;ENSP00000385464:S285N	ENSP00000374064:S262N	S	-	2	0	PTPRN2	157652509	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.158000	0.10070	0.231000	0.21079	-0.377000	0.06932	AGC		0.652	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1			5	14	0	0	0	1	0	5	14				
SGTA	6449	broad.mit.edu	37	19	2767677	2767677	+	Silent	SNP	G	G	A			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr19:2767677G>A	ENST00000221566.2	-	3	269	c.108C>T	c.(106-108)atC>atT	p.I36I		NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha	36					viral process (GO:0016032)	cytoplasm (GO:0005737)				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGGCACTGGATGGCGACTG	0.607																																						ENST00000221566.2																			0				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7						c.(106-108)atC>atT		small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha							53.0	46.0	49.0					19																	2767677		2203	4299	6502	SO:0001819	synonymous_variant	6449				interspecies interaction between organisms	cytoplasm	protein binding	g.chr19:2767677G>A	AJ223828	CCDS12094.1	19p13	2013-01-10	2003-11-24	2003-11-26		ENSG00000104969		"""Tetratricopeptide (TTC) repeat domain containing"""	10819	protein-coding gene	gene with protein product		603419	"""small glutamine-rich tetratricopeptide repeat (TPR)-containing"""	SGT		9740675, 12735788	Standard	NM_003021		Approved		uc002lwi.1	O43765		ENST00000221566.2:c.108C>T	19.37:g.2767677G>A							p.I36I	NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	269	-		Hepatocellular(1079;0.137)	36					D6W610|Q6FIA9|Q9BTZ9	Silent	SNP	ENST00000221566.2	37	c.108C>T	CCDS12094.1																																																																																				0.607	SGTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451448.2	NM_003021		13	42	0	0	0	1	0	13	42				
THNSL2	55258	broad.mit.edu	37	2	88472718	88472718	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr2:88472718G>T	ENST00000324166.5	+	1	1740	c.49G>T	c.(49-51)Ggg>Tgg	p.G17W	THNSL2_ENST00000343544.4_Missense_Mutation_p.G17W|THNSL2_ENST00000377254.3_Missense_Mutation_p.G17W|THNSL2_ENST00000402102.1_Missense_Mutation_p.G17W|THNSL2_ENST00000449349.1_Intron|THNSL2_ENST00000358591.2_Missense_Mutation_p.G17W	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	17					2-oxobutyrate biosynthetic process (GO:0046360)|dephosphorylation (GO:0016311)|serine family amino acid catabolic process (GO:0009071)	extracellular space (GO:0005615)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|serine binding (GO:0070905)			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						CAACTTTGAGGGGGCCCTCTT	0.607																																						ENST00000324166.5																			0				breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						c.(49-51)Ggg>Tgg		threonine synthase-like 2 (S. cerevisiae)							65.0	73.0	70.0					2																	88472718		2203	4300	6503	SO:0001583	missense	55258				threonine biosynthetic process		threonine synthase activity	g.chr2:88472718G>T		CCDS2002.2, CCDS58718.1, CCDS74539.1	2p11.2	2007-06-20			ENSG00000144115	ENSG00000144115			25602	protein-coding gene	gene with protein product		611261				17034760	Standard	NM_018271		Approved	FLJ10916	uc021vkr.1	Q86YJ6	OTTHUMG00000130314	ENST00000324166.5:c.49G>T	2.37:g.88472718G>T	ENSP00000327323:p.Gly17Trp					THNSL2_ENST00000402102.1_Missense_Mutation_p.G17W|THNSL2_ENST00000377254.3_Missense_Mutation_p.G17W|THNSL2_ENST00000358591.2_Missense_Mutation_p.G17W|THNSL2_ENST00000449349.1_Intron|THNSL2_ENST00000343544.4_Missense_Mutation_p.G17W	p.G17W	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN			1	1740	+			17					B3KTB1|B5MDX8|B7WPF8|D9ZZB8|Q6P2M7|Q6PI27|Q9NV54	Missense_Mutation	SNP	ENST00000324166.5	37	c.49G>T	CCDS2002.2	.	.	.	.	.	.	.	.	.	.	G	20.9	4.063677	0.76187	.	.	ENSG00000144115	ENST00000358591;ENST00000377254;ENST00000402102;ENST00000419759;ENST00000343544;ENST00000324166	T;T;T;T;T;T	0.11821	2.74;2.74;2.74;2.74;2.74;2.74	5.36	5.36	0.76844	Pyridoxal phosphate-dependent enzyme, beta subunit (1);	0.361528	0.25677	U	0.029035	T	0.34221	0.0890	M	0.77313	2.365	0.39170	D	0.962573	D;D	0.63880	0.983;0.993	P;P	0.62089	0.685;0.898	T	0.18053	-1.0349	10	0.87932	D	0	.	11.5324	0.50618	0.0815:0.0:0.9185:0.0	.	17;17	Q86YJ6;Q86YJ6-2	THNS2_HUMAN;.	W	17	ENSP00000351402:G17W;ENSP00000366464:G17W;ENSP00000384475:G17W;ENSP00000391300:G17W;ENSP00000339563:G17W;ENSP00000327323:G17W	ENSP00000327323:G17W	G	+	1	0	THNSL2	88253833	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	6.160000	0.71862	2.496000	0.84212	0.561000	0.74099	GGG		0.607	THNSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252662.1	NM_018271		12	65	1	0	1.49906e-05	1	1.638e-05	12	65				
GOLGA2	2801	broad.mit.edu	37	9	131022867	131022867	+	Silent	SNP	C	C	T	rs146436048		TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr9:131022867C>T	ENST00000421699.2	-	17	1566	c.1554G>A	c.(1552-1554)gcG>gcA	p.A518A	AL590708.1_ENST00000408370.1_RNA|GOLGA2_ENST00000609374.1_Silent_p.A506A	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	518					mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						TGCGCGCCTCCGCCTGCTCCC	0.667																																						ENST00000421699.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						c.(1552-1554)gcG>gcA		golgin A2		C		0,4406		0,0,2203	81.0	92.0	88.0		1554	-10.6	0.0	9	dbSNP_134	88	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GOLGA2	NM_004486.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		518/1003	131022867	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2801					Golgi cisterna membrane	protein binding	g.chr9:131022867C>T	L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"""Golgi matrix protein GM130"", ""SY11 protein"""	602580	"""golgi autoantigen, golgin subfamily a, 2"""			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.1554G>A	9.37:g.131022867C>T							p.A518A	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN			17	1566	-			518					Q6GRM9|Q9BRB0|Q9NYF9	Silent	SNP	ENST00000421699.2	37	c.1554G>A	CCDS6896.2																																																																																				0.667	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054358.2	NM_004486		110	134	0	0	0	1	0	110	134				
DPH7	92715	broad.mit.edu	37	9	140469251	140469251	+	Silent	SNP	C	C	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr9:140469251C>T	ENST00000277540.2	-	4	577	c.420G>A	c.(418-420)gaG>gaA	p.E140E	DPH7_ENST00000479650.1_5'UTR	NM_138778.2	NP_620133.1	Q9BTV6	DPH7_HUMAN	diphthamide biosynthesis 7	140					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)												CCAGACACTGCTCCTCCAGGG	0.552																																						ENST00000277540.2																			0											c.(418-420)gaG>gaA		diphthamide biosynthesis 7							148.0	147.0	147.0					9																	140469251		2203	4300	6503	SO:0001819	synonymous_variant	92715							g.chr9:140469251C>T	AK075115	CCDS7047.1	9q34.3	2013-06-20	2013-06-20	2013-06-20	ENSG00000148399	ENSG00000148399		"""WD repeat domain containing"""	25199	protein-coding gene	gene with protein product		613210	"""chromosome 9 open reading frame 112"", ""WD repeat domain 85"""	C9orf112, WDR85		23486472	Standard	NM_138778		Approved	FLJ90634, RRT2	uc004cnk.1	Q9BTV6	OTTHUMG00000020991	ENST00000277540.2:c.420G>A	9.37:g.140469251C>T						DPH7_ENST00000479650.1_5'UTR	p.E140E	NM_138778.2	NP_620133.1					4	577	-								Q96AB7	Silent	SNP	ENST00000277540.2	37	c.420G>A	CCDS7047.1																																																																																				0.552	DPH7-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055350.1	NM_138778		44	165	0	0	0	1	0	44	165				
TNS3	64759	broad.mit.edu	37	7	47408655	47408655	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr7:47408655C>T	ENST00000398879.1	-	17	1954	c.1588G>A	c.(1588-1590)Ggt>Agt	p.G530S	TNS3_ENST00000311160.9_Missense_Mutation_p.G530S|TNS3_ENST00000355730.3_Missense_Mutation_p.G290S			Q68CZ2	TENS3_HUMAN	tensin 3	530					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GGATCTTCACCAACGTTGCTG	0.632																																						ENST00000398879.1																			0				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						c.(1588-1590)Ggt>Agt		tensin 3							48.0	53.0	51.0					7																	47408655		2049	4185	6234	SO:0001583	missense	64759					focal adhesion	protein binding	g.chr7:47408655C>T	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.1588G>A	7.37:g.47408655C>T	ENSP00000381854:p.Gly530Ser					TNS3_ENST00000311160.9_Missense_Mutation_p.G530S|TNS3_ENST00000355730.3_Missense_Mutation_p.G290S	p.G530S			Q68CZ2	TENS3_HUMAN			17	1954	-			530					B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	37	c.1588G>A	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	C	8.124	0.781481	0.16120	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000457718	T;T;T;T	0.17054	2.3;2.3;2.3;2.3	5.59	4.7	0.59300	.	0.566153	0.16686	N	0.203733	T	0.20129	0.0484	M	0.64404	1.975	0.58432	D	0.999997	B	0.19445	0.036	B	0.18263	0.021	T	0.02632	-1.1131	10	0.21540	T	0.41	-9.4576	14.0699	0.64854	0.0:0.8476:0.1524:0.0	.	530	Q68CZ2	TENS3_HUMAN	S	530;640;530;290;633	ENSP00000312143:G530S;ENSP00000381854:G530S;ENSP00000347968:G290S;ENSP00000414358:G633S	ENSP00000312143:G530S	G	-	1	0	TNS3	47375180	0.011000	0.17503	0.004000	0.12327	0.007000	0.05969	2.498000	0.45363	1.306000	0.44926	0.655000	0.94253	GGT		0.632	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		14	60	0	0	0	1	0	14	60				
DMGDH	29958	broad.mit.edu	37	5	78329100	78329100	+	Missense_Mutation	SNP	T	T	C	rs548082594	byFrequency	TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr5:78329100T>C	ENST00000255189.3	-	8	1353	c.1325A>G	c.(1324-1326)gAg>gGg	p.E442G	DMGDH_ENST00000540686.1_Missense_Mutation_p.E62G|DMGDH_ENST00000380311.4_Missense_Mutation_p.E241G	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	442					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TGCTTTGGCCTCAGTGTACTG	0.398																																						ENST00000255189.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(1324-1326)gAg>gGg		dimethylglycine dehydrogenase							298.0	246.0	264.0					5																	78329100		2203	4300	6503	SO:0001583	missense	29958				choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity	g.chr5:78329100T>C	AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.1325A>G	5.37:g.78329100T>C	ENSP00000255189:p.Glu442Gly					DMGDH_ENST00000380311.4_Missense_Mutation_p.E241G|DMGDH_ENST00000540686.1_Missense_Mutation_p.E62G	p.E442G	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)	8	1353	-		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)	442					B2RBN0|B4E1J9	Missense_Mutation	SNP	ENST00000255189.3	37	c.1325A>G	CCDS4044.1	.	.	.	.	.	.	.	.	.	.	T	11.15	1.555343	0.27739	.	.	ENSG00000132837	ENST00000255189;ENST00000523732;ENST00000380311;ENST00000540686;ENST00000539598	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	6.17	6.17	0.99709	.	0.157739	0.56097	D	0.000029	T	0.19765	0.0475	N	0.14661	0.345	0.29199	N	0.87532	B;B;B;B	0.28605	0.136;0.217;0.006;0.011	B;B;B;B	0.31946	0.035;0.138;0.014;0.011	T	0.18903	-1.0322	10	0.21014	T	0.42	.	12.1141	0.53856	0.0:0.0:0.2506:0.7494	.	62;241;292;442	B4E1J9;F8W6P8;F5H1C7;Q9UI17	.;.;.;M2GD_HUMAN	G	442;281;241;62;292	ENSP00000255189:E442G;ENSP00000430972:E281G;ENSP00000369667:E241G;ENSP00000439478:E62G	ENSP00000255189:E442G	E	-	2	0	DMGDH	78364856	1.000000	0.71417	0.991000	0.47740	0.711000	0.40976	4.688000	0.61715	2.371000	0.80710	0.533000	0.62120	GAG		0.398	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	NM_013391		15	41	0	0	0	1	0	15	41				
SOX17	64321	broad.mit.edu	37	8	55371663	55371663	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr8:55371663T>C	ENST00000297316.4	+	2	557	c.353T>C	c.(352-354)gTg>gCg	p.V118A		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	118					angiogenesis (GO:0001525)|canonical Wnt signaling pathway (GO:0060070)|cardiac cell fate determination (GO:0060913)|cardiogenic plate morphogenesis (GO:0003142)|cell migration involved in gastrulation (GO:0042074)|common bile duct development (GO:0061009)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cell differentiation (GO:0060956)|endocardium formation (GO:0060214)|endoderm formation (GO:0001706)|endodermal cell fate determination (GO:0007493)|endodermal digestive tract morphogenesis (GO:0061031)|gall bladder development (GO:0061010)|heart formation (GO:0060914)|heart looping (GO:0001947)|inner cell mass cellular morphogenesis (GO:0001828)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth (GO:0030308)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell differentiation (GO:0045597)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein destabilization (GO:0031648)|protein stabilization (GO:0050821)|regulation of cardiac cell fate specification (GO:2000043)|regulation of embryonic development (GO:0045995)|regulation of stem cell division (GO:2000035)|regulation of stem cell proliferation (GO:0072091)|regulation of transcription from RNA polymerase II promoter involved in definitive endodermal cell fate specification (GO:0060807)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|rostrocaudal neural tube patterning (GO:0021903)|signal transduction involved in regulation of gene expression (GO:0023019)|spermatogenesis (GO:0007283)|stem cell fate specification (GO:0048866)|vasculogenesis (GO:0001570)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			CGGCCCTTCGTGGAGGAGGCA	0.687																																						ENST00000297316.4																			0				endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18						c.(352-354)gTg>gCg		SRY (sex determining region Y)-box 17							19.0	19.0	19.0					8																	55371663		2192	4283	6475	SO:0001583	missense	64321				angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr8:55371663T>C	AB073988	CCDS6159.1	8q11.23	2014-09-04			ENSG00000164736	ENSG00000164736		"""SRY (sex determining region Y)-boxes"""	18122	protein-coding gene	gene with protein product		610928				11786926	Standard	NM_022454		Approved		uc003xsb.4	Q9H6I2	OTTHUMG00000164377	ENST00000297316.4:c.353T>C	8.37:g.55371663T>C	ENSP00000297316:p.Val118Ala						p.V118A	NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)		2	557	+		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	118						Missense_Mutation	SNP	ENST00000297316.4	37	c.353T>C	CCDS6159.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.777492	0.90195	.	.	ENSG00000164736	ENST00000297316	D	0.97959	-4.63	4.03	4.03	0.46877	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.98201	0.9405	M	0.67397	2.05	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98985	1.0806	10	0.87932	D	0	.	13.1212	0.59327	0.0:0.0:0.0:1.0	.	118	Q9H6I2	SOX17_HUMAN	A	118	ENSP00000297316:V118A	ENSP00000297316:V118A	V	+	2	0	SOX17	55534216	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.928000	0.70088	1.695000	0.51148	0.374000	0.22700	GTG		0.687	SOX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378526.2			7	22	0	0	0	1	0	7	22				
NFE2L2	4780	broad.mit.edu	37	2	178095647	178095647	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr2:178095647G>A	ENST00000397062.3	-	5	2238	c.1684C>T	c.(1684-1686)Ctc>Ttc	p.L562F	NFE2L2_ENST00000446151.2_Missense_Mutation_p.L539F|NFE2L2_ENST00000464747.1_Missense_Mutation_p.L546F|NFE2L2_ENST00000397063.4_Missense_Mutation_p.L546F	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	562					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AAAACTTCGAGATATAAGGTG	0.363			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												ENST00000397062.3				Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			"""NSCLC, HNSCC"""		0				central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158						c.(1684-1686)Ctc>Ttc		nuclear factor, erythroid 2-like 2							208.0	188.0	194.0					2																	178095647		1854	4092	5946	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178095647G>A		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.1684C>T	2.37:g.178095647G>A	ENSP00000380252:p.Leu562Phe	HNSCC(56;0.16)				NFE2L2_ENST00000397063.4_Missense_Mutation_p.L546F|NFE2L2_ENST00000464747.1_Missense_Mutation_p.L546F|NFE2L2_ENST00000446151.2_Missense_Mutation_p.L539F	p.L562F	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		5	2238	-			562					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.1684C>T	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.138408	0.56936	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151	T;T;T	0.18502	2.22;2.21;2.21	6.03	6.03	0.97812	.	0.253980	0.41823	D	0.000815	T	0.31420	0.0796	L	0.57536	1.79	0.80722	D	1	D;D	0.59767	0.986;0.986	P;P	0.56916	0.809;0.809	T	0.00333	-1.1810	10	0.28530	T	0.3	-6.0507	14.5599	0.68128	0.0:0.0:0.7434:0.2566	.	539;562	E9PGJ7;Q16236	.;NF2L2_HUMAN	F	546;562;539	ENSP00000380253:L546F;ENSP00000380252:L562F;ENSP00000411575:L539F	ENSP00000380252:L562F	L	-	1	0	NFE2L2	177803893	1.000000	0.71417	0.997000	0.53966	0.895000	0.52256	5.642000	0.67888	2.881000	0.98747	0.650000	0.86243	CTC		0.363	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		37	59	0	0	0	1	0	37	59				
SLC22A20	440044	broad.mit.edu	37	11	65003880	65003880	+	RNA	SNP	G	G	A			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr11:65003880G>A	ENST00000525437.1	+	0	1297							A6NK97	S22AK_HUMAN	solute carrier family 22, member 20						ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						CCCTGTCTAGGCACGCAGATC	0.642																																						ENST00000525437.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8															25.0	26.0	26.0					11																	65003880		2025	4176	6201			440044				ion transport	integral to membrane	transmembrane transporter activity	g.chr11:65003880G>A	DQ053017		11q13.1	2014-02-20			ENSG00000197847	ENSG00000197847		"""Solute carriers"""	29867	other	unknown		611696				15369770, 16478971	Standard	NM_001004326		Approved	Oat6, FLJ16331	uc021qlh.1	A6NK97	OTTHUMG00000165615		11.37:g.65003880G>A										A6NK97	S22AK_HUMAN			0	1297	+								B9EJB2|Q6ZN88	RNA	SNP	ENST00000525437.1	37																																																																																						0.642	SLC22A20-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000385336.1	NM_001004326		3	6	0	0	0	1	0	3	6				
PROS1	5627	broad.mit.edu	37	3	93603706	93603706	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr3:93603706C>A	ENST00000394236.3	-	12	1674	c.1358G>T	c.(1357-1359)tGg>tTg	p.W453L	PROS1_ENST00000407433.1_Missense_Mutation_p.W322L	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	453	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	CATCAAATTCCAGCTTCGTAT	0.363																																						ENST00000394236.3																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46						c.(1357-1359)tGg>tTg		protein S (alpha)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)						63.0	57.0	59.0					3																	93603706		2203	4300	6503	SO:0001583	missense	5627				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	g.chr3:93603706C>A		CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.1358G>T	3.37:g.93603706C>A	ENSP00000377783:p.Trp453Leu					PROS1_ENST00000407433.1_Missense_Mutation_p.W322L	p.W453L	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN			12	1674	-			453			Laminin G-like 1.		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	ENST00000394236.3	37	c.1358G>T	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.448824	0.84101	.	.	ENSG00000184500	ENST00000394236;ENST00000407433	T;T	0.72167	-0.63;-0.63	3.78	3.78	0.43462	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.85856	0.5794	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89242	0.3584	10	0.72032	D	0.01	.	15.42	0.75003	0.0:1.0:0.0:0.0	.	453	P07225	PROS_HUMAN	L	453;322	ENSP00000377783:W453L;ENSP00000385794:W322L	ENSP00000377783:W453L	W	-	2	0	PROS1	95086396	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.573000	0.67417	1.950000	0.56595	0.561000	0.74099	TGG		0.363	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313		3	23	1	0	0.115264	1	0.11736	3	23				
MS4A2	2206	broad.mit.edu	37	11	59857931	59857931	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr11:59857931G>T	ENST00000278888.3	+	3	411	c.309G>T	c.(307-309)tgG>tgT	p.W103C		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	103					activation of phospholipase C activity (GO:0007202)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of mast cell degranulation (GO:0043306)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Fc-epsilon receptor I complex (GO:0032998)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	ATCCATTCTGGGGAGCCATAT	0.343																																						ENST00000278888.3																			0				endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17						c.(307-309)tgG>tgT		membrane-spanning 4-domains, subfamily A, member 2	Omalizumab(DB00043)						132.0	129.0	130.0					11																	59857931		2200	4294	6494	SO:0001583	missense	2206				cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity	g.chr11:59857931G>T	M89796	CCDS7980.1, CCDS73292.1	11q12-q13	2012-02-28	2012-02-28		ENSG00000149534	ENSG00000149534			7316	protein-coding gene	gene with protein product	"""Fc fragment of IgE, high affinity I, receptor for; beta polypeptide"""	147138	"""IgE responsiveness (atopic)"", ""membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide)"""	FCER1B, IGER, APY		1386024	Standard	NM_000139		Approved	MS4A1	uc001nop.3	Q01362	OTTHUMG00000167239	ENST00000278888.3:c.309G>T	11.37:g.59857931G>T	ENSP00000278888:p.Trp103Cys						p.W103C	NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN			3	411	+		all_epithelial(135;0.245)	103					Q54A81	Missense_Mutation	SNP	ENST00000278888.3	37	c.309G>T	CCDS7980.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.757917	0.49468	.	.	ENSG00000149534	ENST00000278888	T	0.07216	3.21	4.59	3.67	0.42095	.	0.000000	0.85682	D	0.000000	T	0.20536	0.0494	M	0.91972	3.26	0.80722	D	1	P;P	0.42908	0.793;0.793	P;P	0.44696	0.458;0.458	T	0.04017	-1.0984	10	0.62326	D	0.03	-12.8011	10.1637	0.42866	0.0:0.0:0.8012:0.1988	.	33;103	Q14298;Q01362	.;FCERB_HUMAN	C	103	ENSP00000278888:W103C	ENSP00000278888:W103C	W	+	3	0	MS4A2	59614507	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.817000	0.55668	1.516000	0.48900	0.585000	0.79938	TGG		0.343	MS4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393844.1			10	49	1	0	1.58986e-06	1	1.78065e-06	10	49				
SVEP1	79987	broad.mit.edu	37	9	113170218	113170218	+	Silent	SNP	G	G	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr9:113170218G>T	ENST00000401783.2	-	38	7998	c.7662C>A	c.(7660-7662)atC>atA	p.I2554I	SVEP1_ENST00000297826.5_Silent_p.I480I|SVEP1_ENST00000374469.1_Silent_p.I2531I	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2554	Sushi 20. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AATCACAGTGGATGGCATTGC	0.493																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(7660-7662)atC>atA		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							61.0	60.0	60.0					9																	113170218		1966	4173	6139	SO:0001819	synonymous_variant	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113170218G>T	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.7662C>A	9.37:g.113170218G>T						SVEP1_ENST00000374469.1_Silent_p.I2531I|SVEP1_ENST00000297826.5_Silent_p.I480I	p.I2554I	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			38	7998	-			2554			Sushi 20.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	ENST00000401783.2	37	c.7662C>A	CCDS48004.1																																																																																				0.493	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				12	25	1	0	6.42651e-13	1	7.78129e-13	12	25				
MSC	9242	broad.mit.edu	37	8	72755775	72755775	+	Intron	SNP	C	C	A			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr8:72755775C>A	ENST00000325509.4	-	1	824				RP11-383H13.1_ENST00000521467.1_Intron|RP11-383H13.1_ENST00000524152.1_5'Flank|MSC_ENST00000518440.1_5'Flank|RP11-383H13.1_ENST00000537896.1_Missense_Mutation_p.H47N	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin						branchiomeric skeletal muscle development (GO:0014707)|diaphragm development (GO:0060539)|palate development (GO:0060021)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			CCAGAACCTCCACCCCTTTCG	0.607											OREG0018826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000537896.1																			0				lung(1)	1						c.(139-141)Cac>Aac																																						SO:0001627	intron_variant	0							g.chr8:72755775C>A		CCDS43746.1	8q13.3	2013-06-07	2010-04-28		ENSG00000178860	ENSG00000178860		"""Basic helix-loop-helix proteins"""	7321	protein-coding gene	gene with protein product	"""activated B-cell factor-1"""	603628	"""musculin (activated B-cell factor-1)"""			9584154, 10198176	Standard	NM_005098		Approved	ABF-1, bHLHa22	uc003xyx.1	O60682	OTTHUMG00000164489	ENST00000325509.4:c.534+104G>T	8.37:g.72755775C>A			OREG0018826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1140	RP11-383H13.1_ENST00000521467.1_Intron|MSC_ENST00000325509.4_Intron	p.H47N							1	409	+								O75946|Q53XZ2|Q9BRE7	Missense_Mutation	SNP	ENST00000325509.4	37	c.139C>A	CCDS43746.1	.	.	.	.	.	.	.	.	.	.	C	9.734	1.163016	0.21538	.	.	ENSG00000235531	ENST00000537896	.	.	.	4.03	-0.222	0.13122	.	.	.	.	.	T	0.37732	0.1014	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	T	0.39542	-0.9609	5	0.87932	D	0	.	4.8	0.13292	0.2922:0.5326:0.0:0.1752	.	.	.	.	N	47	.	ENSP00000440866:H47N	H	+	1	0	RP11-383H13.1	72918329	0.001000	0.12720	0.000000	0.03702	0.348000	0.29142	-0.593000	0.05740	0.121000	0.18284	-0.324000	0.08512	CAC		0.607	MSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378974.1	NM_005098		5	16	1	0	0.217242	1	0.218216	5	16				
FSTL3	10272	broad.mit.edu	37	19	681501	681501	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr19:681501G>A	ENST00000166139.4	+	4	706	c.674G>A	c.(673-675)cGc>cAc	p.R225H	FSTL3_ENST00000592947.1_3'UTR	NM_005860.2	NP_005851.1	O95633	FSTL3_HUMAN	follistatin-like 3 (secreted glycoprotein)	225	Kazal-like 2. {ECO:0000255|PROSITE- ProRule:PRU00798}.				adrenal gland development (GO:0030325)|cellular response to metal ion (GO:0071248)|hematopoietic progenitor cell differentiation (GO:0002244)|kidney development (GO:0001822)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0090101)|ossification (GO:0001503)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|secretory granule (GO:0030141)	activin binding (GO:0048185)|fibronectin binding (GO:0001968)						all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCACATGCGCCAGGCCACC	0.716			T	CCND1	B-CLL																																	ENST00000166139.4				Dom	yes		19	19p13	10272	T	follistatin-like 3 (secreted glycoprotein)			L	CCND1		B-CLL		0											c.(673-675)cGc>cAc		follistatin-like 3 (secreted glycoprotein)							43.0	37.0	39.0					19																	681501		2203	4299	6502	SO:0001583	missense	10272				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of osteoclast differentiation|ossification|positive regulation of cell-cell adhesion|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	extracellular space|nucleus	activin binding|fibronectin binding	g.chr19:681501G>A	U76702	CCDS12040.1	19p13	2008-07-16				ENSG00000070404			3973	protein-coding gene	gene with protein product	"""follistatin-related protein"""	605343				9671416, 15527507	Standard	NM_005860		Approved	FLRG, FSRP	uc002lpk.1	O95633		ENST00000166139.4:c.674G>A	19.37:g.681501G>A	ENSP00000166139:p.Arg225His					FSTL3_ENST00000592947.1_3'UTR	p.R225H	NM_005860.2	NP_005851.1	O95633	FSTL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	706	+		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	225			Kazal-like 2.		A8K7E3	Missense_Mutation	SNP	ENST00000166139.4	37	c.674G>A	CCDS12040.1	.	.	.	.	.	.	.	.	.	.	G	33	5.203861	0.95033	.	.	ENSG00000070404	ENST00000166139	T	0.04454	3.62	3.85	3.85	0.44370	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.000000	0.85682	D	0.000000	T	0.07007	0.0178	L	0.58925	1.835	0.80722	D	1	P	0.49961	0.93	B	0.39935	0.314	T	0.33979	-0.9847	10	0.45353	T	0.12	-36.4188	14.5078	0.67764	0.0:0.0:1.0:0.0	.	225	O95633	FSTL3_HUMAN	H	225	ENSP00000166139:R225H	ENSP00000166139:R225H	R	+	2	0	FSTL3	632501	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	9.044000	0.93805	1.985000	0.57927	0.462000	0.41574	CGC		0.716	FSTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452479.1	NM_005860		7	24	0	0	0	1	0	7	24				
KSR2	283455	broad.mit.edu	37	12	117969469	117969469	+	Splice_Site	SNP	A	A	C			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr12:117969469A>C	ENST00000339824.5	-	11	2457		c.e11+1		KSR2_ENST00000545002.1_Splice_Site|KSR2_ENST00000302438.5_Splice_Site|KSR2_ENST00000425217.1_Splice_Site			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2						intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CATGAAACTCACCTGGGAAGA	0.507																																						ENST00000425217.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.e11+1		kinase suppressor of ras 2							103.0	107.0	105.0					12																	117969469		1994	4178	6172	SO:0001630	splice_region_variant	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:117969469A>C	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.1729+1T>G	12.37:g.117969469A>C						KSR2_ENST00000545002.1_Splice_Site|KSR2_ENST00000302438.5_Splice_Site|KSR2_ENST00000339824.5_Splice_Site		NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN			11	1697	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)							A0PJT2|Q3B828|Q8N775	Splice_Site	SNP	ENST00000339824.5	37			.	.	.	.	.	.	.	.	.	.	A	21.8	4.195314	0.78902	.	.	ENSG00000171435	ENST00000425217;ENST00000339824;ENST00000302438;ENST00000542378	.	.	.	4.66	4.66	0.58398	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2572	0.66060	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KSR2	116453852	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	8.757000	0.91657	1.934000	0.56057	0.402000	0.26972	.		0.507	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598	Intron	8	33	0	0	0	1	0	8	33				
TTN	7273	broad.mit.edu	37	2	179590206	179590206	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr2:179590206C>T	ENST00000591111.1	-	69	19998	c.19774G>A	c.(19774-19776)Gtt>Att	p.V6592I	TTN_ENST00000589042.1_Missense_Mutation_p.V6909I|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V5665I|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12193	Ig-like 47.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGAGTTGCAACATTTTCCACA	0.418																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(20725-20727)Gtt>Att		titin							127.0	117.0	120.0					2																	179590206		1892	4116	6008	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179590206C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.19774G>A	2.37:g.179590206C>T	ENSP00000465570:p.Val6592Ile					TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V5665I|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V6592I	p.V6909I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		71	20949	-			6592					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.20725G>A		.	.	.	.	.	.	.	.	.	.	C	12.05	1.820201	0.32145	.	.	ENSG00000155657	ENST00000342992	T	0.65549	-0.16	5.86	2.13	0.27403	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.42743	0.1216	N	0.13327	0.33	0.80722	D	1	B	0.06786	0.001	B	0.12156	0.007	T	0.23440	-1.0188	9	0.87932	D	0	.	8.7199	0.34434	0.0:0.5103:0.0:0.4897	.	6592	Q8WZ42	TITIN_HUMAN	I	5665	ENSP00000343764:V5665I	ENSP00000343764:V5665I	V	-	1	0	TTN	179298451	0.085000	0.21516	0.997000	0.53966	0.995000	0.86356	0.030000	0.13688	0.188000	0.20168	0.650000	0.86243	GTT		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		11	27	0	0	0	1	0	11	27				
FZD1	8321	broad.mit.edu	37	7	90895775	90895775	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr7:90895775C>T	ENST00000287934.2	+	1	1993	c.1580C>T	c.(1579-1581)aCc>aTc	p.T527I		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	527					autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			GGCACCAAGACCGAGAAGCTG	0.582																																						ENST00000287934.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(1579-1581)aCc>aTc		frizzled family receptor 1							147.0	123.0	131.0					7																	90895775		2203	4300	6503	SO:0001583	missense	8321				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding	g.chr7:90895775C>T	AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"""GPCR / Class F : Frizzled receptors"""	4038	protein-coding gene	gene with protein product	"""Wnt receptor"", ""frizzled, Drosophila, homolog of, 1"""	603408	"""frizzled (Drosophila) homolog 1"", ""frizzled homolog 1 (Drosophila)"", ""frizzled 1, seven transmembrane spanning receptor"", ""frizzled family receptor 1"""			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.1580C>T	7.37:g.90895775C>T	ENSP00000287934:p.Thr527Ile						p.T527I	NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0134)		1	1993	+	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		527					A4D1E8|O94815|Q549T8	Missense_Mutation	SNP	ENST00000287934.2	37	c.1580C>T	CCDS5620.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.382986	0.82792	.	.	ENSG00000157240	ENST00000287934	D	0.83419	-1.72	5.03	5.03	0.67393	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000003	D	0.91492	0.7314	M	0.81802	2.56	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	D	0.92245	0.5804	10	0.66056	D	0.02	.	18.5476	0.91053	0.0:1.0:0.0:0.0	.	527	Q9UP38	FZD1_HUMAN	I	527	ENSP00000287934:T527I	ENSP00000287934:T527I	T	+	2	0	FZD1	90733711	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	7.640000	0.83355	2.607000	0.88179	0.655000	0.94253	ACC		0.582	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	NM_003505		25	140	0	0	0	1	0	25	140				
HLA-A	3105	broad.mit.edu	37	6	29910587	29910587	+	Nonsense_Mutation	SNP	G	G	T	rs41549014	byFrequency	TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr6:29910587G>T	ENST00000396634.1	+	4	468	c.127G>T	c.(127-129)Gag>Tag	p.E43*	HLA-A_ENST00000376809.5_Nonsense_Mutation_p.E43*|HLA-A_ENST00000376802.2_Nonsense_Mutation_p.E43*|HLA-A_ENST00000376806.5_Nonsense_Mutation_p.E43*			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	43	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.E43*(1)|p.R41fs*31(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CGGCCGCGGGGAGCCCCGCTT	0.706									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												ENST00000396634.1																			2	Substitution - Nonsense(1)|Deletion - Frameshift(1)	p.E43*(1)|p.R41fs*31(1)	cervix(1)|ovary(1)	central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						c.(127-129)Gag>Tag		major histocompatibility complex, class I, A							23.0	22.0	22.0					6																	29910587		2198	4294	6492	SO:0001587	stop_gained	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29910587G>T	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.127G>T	6.37:g.29910587G>T	ENSP00000379873:p.Glu43*	Multiple Myeloma(9;0.094)				HLA-A_ENST00000376806.5_Nonsense_Mutation_p.E43*|HLA-A_ENST00000376802.2_Nonsense_Mutation_p.E43*|HLA-A_ENST00000376809.5_Nonsense_Mutation_p.E43*	p.E43*			P30443	1A01_HUMAN			4	468	+			43			Alpha-1.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Nonsense_Mutation	SNP	ENST00000396634.1	37	c.127G>T	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	38	6.774052	0.97829	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	.	.	.	3.57	0.575	0.17374	.	2.237780	0.03383	U	0.200671	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	3.3062	0.07001	0.2361:0.0:0.5616:0.2024	.	.	.	.	X	43	.	ENSP00000348012:E43X	E	+	1	0	HLA-A	30018566	0.008000	0.16893	0.000000	0.03702	0.452000	0.32318	0.240000	0.18042	0.004000	0.14682	0.478000	0.44815	GAG		0.706	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		4	39	1	0	0.184627	1	0.186291	4	39				
AFF2	2334	broad.mit.edu	37	X	148037675	148037675	+	Silent	SNP	T	T	A			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chrX:148037675T>A	ENST00000370460.2	+	11	2579	c.2100T>A	c.(2098-2100)ccT>ccA	p.P700P	AFF2_ENST00000286437.5_Silent_p.P341P|AFF2_ENST00000370457.5_Silent_p.P667P|AFF2_ENST00000342251.3_Silent_p.P667P	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	700					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)					ACAGAGGGCCTGGCAAGATTG	0.498																																						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.(2098-2100)ccT>ccA		AF4/FMR2 family, member 2							92.0	95.0	94.0					X																	148037675		2203	4300	6503	SO:0001819	synonymous_variant	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148037675T>A	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.2100T>A	X.37:g.148037675T>A						AFF2_ENST00000342251.3_Silent_p.P667P|AFF2_ENST00000286437.5_Silent_p.P341P|AFF2_ENST00000370457.5_Silent_p.P667P	p.P700P	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN			11	2579	+	Acute lymphoblastic leukemia(192;6.56e-05)		700					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Silent	SNP	ENST00000370460.2	37	c.2100T>A	CCDS14684.1																																																																																				0.498	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		29	46	0	0	0	1	0	29	46				
IGKV1-16	28938	broad.mit.edu	37	2	89399811	89399811	+	RNA	SNP	A	A	G			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr2:89399811A>G	ENST00000479981.1	-	0	43									immunoglobulin kappa variable 1-16																		GAGCTGAGCGAGGACTCTCAT	0.532																																						ENST00000479981.1																			0																				73.0	67.0	69.0					2																	89399811		1861	4092	5953			28938							g.chr2:89399811A>G	J00248		2p11.2	2012-02-10			ENSG00000240864	ENSG00000240864		"""Immunoglobulins / IGK locus"""	5732	other	immunoglobulin gene							Standard	NG_000834		Approved	IGKV116, L1			OTTHUMG00000151649		2.37:g.89399811A>G														0	43	-									RNA	SNP	ENST00000479981.1	37																																																																																						0.532	IGKV1-16-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323398.1	NG_000834		20	55	0	0	0	1	0	20	55				
CORO2B	10391	broad.mit.edu	37	15	69003107	69003107	+	Missense_Mutation	SNP	C	C	T	rs535068266		TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr15:69003107C>T	ENST00000566799.1	+	4	399	c.370C>T	c.(370-372)Cgg>Tgg	p.R124W	CORO2B_ENST00000543950.1_Missense_Mutation_p.R119W|CORO2B_ENST00000540068.1_Missense_Mutation_p.R119W|CORO2B_ENST00000261861.5_Missense_Mutation_p.R119W			Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	124					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	actin binding (GO:0003779)|actin filament binding (GO:0051015)			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CGGGCTGAAGCGGAACATGAC	0.657													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17182	0.0		0.0	False		,,,				2504	0.0					ENST00000543950.1																			0				kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(355-357)Cgg>Tgg		coronin, actin binding protein, 2B							34.0	31.0	32.0					15																	69003107		2199	4297	6496	SO:0001583	missense	10391				actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding	g.chr15:69003107C>T	AB010098	CCDS53952.1, CCDS10229.2	15q22.31	2013-01-10	2001-11-28		ENSG00000103647	ENSG00000103647		"""Coronins"", ""WD repeat domain containing"""	2256	protein-coding gene	gene with protein product	"""clipin C"", ""coronin, actin-binding, 2B"""	605002	"""coronin, actin-binding protein, 2B"""			10224093, 10231032	Standard	NM_001190456		Approved	ClipinC, KIAA0925	uc021spj.1	Q9UQ03	OTTHUMG00000133288	ENST00000566799.1:c.370C>T	15.37:g.69003107C>T	ENSP00000454783:p.Arg124Trp					CORO2B_ENST00000540068.1_Missense_Mutation_p.R119W|CORO2B_ENST00000566799.1_Missense_Mutation_p.R124W|CORO2B_ENST00000261861.5_Missense_Mutation_p.R119W	p.R119W	NM_001190457.1	NP_001177386.1	Q9UQ03	COR2B_HUMAN			4	709	+			124					A8K0W3|O94767|Q8TAN1	Missense_Mutation	SNP	ENST00000566799.1	37	c.355C>T	CCDS10229.2	.	.	.	.	.	.	.	.	.	.	C	24.0	4.479346	0.84747	.	.	ENSG00000103647	ENST00000261861;ENST00000540068;ENST00000543950	T;T	0.07114	3.22;3.22	5.69	4.75	0.60458	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.30103	0.0754	M	0.90542	3.125	0.58432	D	0.999992	D	0.71674	0.998	P	0.57468	0.821	T	0.18272	-1.0342	10	0.87932	D	0	-25.0709	14.4436	0.67336	0.2565:0.7435:0.0:0.0	.	124	Q9UQ03	COR2B_HUMAN	W	124;119;119	ENSP00000446250:R119W;ENSP00000443819:R119W	ENSP00000261861:R124W	R	+	1	2	CORO2B	66790161	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	2.344000	0.44010	2.677000	0.91161	0.655000	0.94253	CGG		0.657	CORO2B-203	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_006091		3	17	0	0	0	1	0	3	17				
CARF	79800	broad.mit.edu	37	2	203847117	203847117	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr2:203847117A>T	ENST00000402905.3	+	15	2333	c.2012A>T	c.(2011-2013)gAt>gTt	p.D671V	CARF_ENST00000545262.1_Missense_Mutation_p.D595V|CARF_ENST00000320443.8_Missense_Mutation_p.D671V|CARF_ENST00000414439.1_Missense_Mutation_p.D569V|CARF_ENST00000438828.2_Missense_Mutation_p.D671V|CARF_ENST00000428585.1_Missense_Mutation_p.D595V|CARF_ENST00000545253.1_Missense_Mutation_p.D583V|WDR12_ENST00000477723.1_Intron	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1	Q8N187	CARTF_HUMAN	calcium responsive transcription factor	671					cellular response to calcium ion (GO:0071277)|cellular response to potassium ion (GO:0035865)|positive regulation of transcription from RNA polymerase II promoter in response to calcium ion (GO:0061400)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|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 transcription factor activity (GO:0003700)										CTGTTGGGAGATGTGCAGACT	0.388																																						ENST00000320443.8																			0											c.(2011-2013)gAt>gTt		calcium responsive transcription factor							111.0	109.0	110.0					2																	203847117		1883	4128	6011	SO:0001583	missense	79800							g.chr2:203847117A>T	AB053309	CCDS42801.1, CCDS63091.1	2q33.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000138380	ENSG00000138380			14435	protein-coding gene	gene with protein product	"""calcium-response factor"""	607586	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8"""	ALS2CR8		11586298, 11832226	Standard	XM_005246858		Approved	FLJ21579, CaRF, NYD-SP24	uc002uzo.2	Q8N187	OTTHUMG00000154528	ENST00000402905.3:c.2012A>T	2.37:g.203847117A>T	ENSP00000384006:p.Asp671Val					CARF_ENST00000414439.1_Missense_Mutation_p.D569V|CARF_ENST00000438828.2_Missense_Mutation_p.D671V|CARF_ENST00000402905.2_Missense_Mutation_p.D671V|CARF_ENST00000545253.1_Missense_Mutation_p.D583V|CARF_ENST00000545262.1_Missense_Mutation_p.D595V|WDR12_ENST00000477723.1_Intron|CARF_ENST00000428585.1_Missense_Mutation_p.D595V	p.D671V							15	3055	+								B4E1W7|G3V1K7|Q8ND29|Q8WXC0|Q96J78|Q96Q38|Q96Q39|Q9H712	Missense_Mutation	SNP	ENST00000402905.3	37	c.2012A>T	CCDS42801.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.544789	0.86022	.	.	ENSG00000138380	ENST00000402905;ENST00000414439;ENST00000428585;ENST00000545253;ENST00000545262;ENST00000320443;ENST00000438828	.	.	.	5.42	5.42	0.78866	.	0.364620	0.27035	N	0.021248	T	0.67392	0.2888	L	0.43923	1.385	0.80722	D	1	D;D;D	0.61080	0.989;0.989;0.973	P;D;P	0.66084	0.875;0.941;0.875	T	0.70288	-0.4913	9	0.87932	D	0	-6.9411	13.4876	0.61375	1.0:0.0:0.0:0.0	.	583;595;671	B4DIA7;G3V1K7;Q8N187	.;.;AL2S8_HUMAN	V	671;569;595;583;595;671;671	.	ENSP00000316224:D671V	D	+	2	0	ALS2CR8	203555362	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	6.212000	0.72188	2.179000	0.69175	0.533000	0.62120	GAT		0.388	CARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335768.5	NM_001104586		14	39	0	0	0	1	0	14	39				
PAM	5066	broad.mit.edu	37	5	102342554	102342554	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr5:102342554G>T	ENST00000438793.3	+	18	2323	c.1853G>T	c.(1852-1854)gGa>gTa	p.G618V	PAM_ENST00000346918.2_Missense_Mutation_p.G618V|PAM_ENST00000379787.4_5'UTR|PAM_ENST00000274392.9_Missense_Mutation_p.G521V|PAM_ENST00000348126.2_Missense_Mutation_p.G511V|PAM_ENST00000455264.2_Missense_Mutation_p.G618V|PAM_ENST00000304400.7_Missense_Mutation_p.G618V	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	618	Peptidyl-alpha-hydroxyglycine alpha- amidating lyase. {ECO:0000250}.				central nervous system development (GO:0007417)|heart development (GO:0007507)|lactation (GO:0007595)|limb development (GO:0060173)|long-chain fatty acid metabolic process (GO:0001676)|maternal process involved in female pregnancy (GO:0060135)|odontogenesis (GO:0042476)|ovulation cycle process (GO:0022602)|peptide amidation (GO:0001519)|protein amidation (GO:0018032)|protein homooligomerization (GO:0051260)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of protein secretion (GO:0050708)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to pH (GO:0009268)|toxin metabolic process (GO:0009404)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|L-ascorbic acid binding (GO:0031418)|peptidylamidoglycolate lyase activity (GO:0004598)|peptidylglycine monooxygenase activity (GO:0004504)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	TTAATCCTGGGAAGGAGCATG	0.433																																						ENST00000438793.3																			0				endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25						c.(1852-1854)gGa>gTa		peptidylglycine alpha-amidating monooxygenase	Vitamin C(DB00126)						113.0	113.0	113.0					5																	102342554		2203	4300	6503	SO:0001583	missense	5066				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding	g.chr5:102342554G>T	AB095007	CCDS4092.1, CCDS4093.1, CCDS4094.1, CCDS43348.1, CCDS54885.1	5q	2008-02-05			ENSG00000145730	ENSG00000145730	1.14.17.3		8596	protein-coding gene	gene with protein product	"""peptidyl-alpha-hydroxyglycine alpha-amidating lyase"", ""peptidylglycine alpha-hydroxylating monooxygenase"""	170270				2357221	Standard	NM_000919		Approved	PAL, PHM	uc003knt.3	P19021	OTTHUMG00000128729	ENST00000438793.3:c.1853G>T	5.37:g.102342554G>T	ENSP00000396493:p.Gly618Val					PAM_ENST00000304400.7_Missense_Mutation_p.G618V|PAM_ENST00000346918.2_Missense_Mutation_p.G618V|PAM_ENST00000455264.2_Missense_Mutation_p.G618V|PAM_ENST00000379787.4_5'UTR|PAM_ENST00000348126.2_Missense_Mutation_p.G511V|PAM_ENST00000274392.9_Missense_Mutation_p.G521V	p.G618V	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	18	2323	+		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)	618			Peptidyl-alpha-hydroxyglycine alpha- amidating lyase (By similarity).		A6NMR0|A8K293|O43211|O95080|Q16252|Q16253|Q54A45|Q86U53|Q8WVC7|Q9UCG0	Missense_Mutation	SNP	ENST00000438793.3	37	c.1853G>T	CCDS54885.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.137972	0.77775	.	.	ENSG00000145730	ENST00000438793;ENST00000346918;ENST00000348126;ENST00000304400;ENST00000274392;ENST00000455264	D;D;D;D;D;D	0.92099	-2.97;-2.97;-2.97;-2.97;-2.97;-2.97	5.92	5.92	0.95590	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.97679	0.9239	H	0.96301	3.8	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.98154	1.0443	10	0.87932	D	0	.	20.3206	0.98668	0.0:0.0:1.0:0.0	.	521;618;618;618;618;511	F8WE90;P19021;P19021-4;P19021-3;P19021-5;P19021-2	.;AMD_HUMAN;.;.;.;.	V	618;618;511;618;521;618	ENSP00000396493:G618V;ENSP00000282992:G618V;ENSP00000314638:G511V;ENSP00000306100:G618V;ENSP00000274392:G521V;ENSP00000403461:G618V	ENSP00000274392:G521V	G	+	2	0	PAM	102370453	1.000000	0.71417	1.000000	0.80357	0.376000	0.30014	9.669000	0.98622	2.813000	0.96785	0.561000	0.74099	GGA		0.433	PAM-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250640.2	NM_000919		25	81	1	0	1.17739e-12	1	1.41794e-12	25	81				
CUBN	8029	broad.mit.edu	37	10	17152949	17152949	+	Silent	SNP	A	A	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr10:17152949A>T	ENST00000377833.4	-	9	1049	c.984T>A	c.(982-984)ccT>ccA	p.P328P		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	328	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGGAAGACCCAGGTGTATTCA	0.517																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(982-984)ccT>ccA		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						92.0	87.0	88.0					10																	17152949		2203	4300	6503	SO:0001819	synonymous_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17152949A>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.984T>A	10.37:g.17152949A>T							p.P328P	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			9	1049	-			328			EGF-like 4; calcium-binding (Potential).		B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	c.984T>A	CCDS7113.1																																																																																				0.517	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		12	52	0	0	0	1	0	12	52				
HFM1	164045	broad.mit.edu	37	1	91818136	91818136	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr1:91818136T>C	ENST00000370425.3	-	16	2002	c.1904A>G	c.(1903-1905)tAt>tGt	p.Y635C	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.Y314C	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	635	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TCCTCCAGCATAATGCATTGT	0.358																																						ENST00000370425.3																			0				breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75						c.(1903-1905)tAt>tGt		HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)							91.0	86.0	87.0					1																	91818136		1844	4096	5940	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91818136T>C	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.1904A>G	1.37:g.91818136T>C	ENSP00000359454:p.Tyr635Cys					HFM1_ENST00000370424.3_Missense_Mutation_p.Y314C|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_5'UTR	p.Y635C	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	16	2002	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	635			Helicase C-terminal.		B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.1904A>G	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	T	22.9	4.351204	0.82132	.	.	ENSG00000162669	ENST00000370425;ENST00000370424;ENST00000370421;ENST00000541820	T;D	0.92249	-0.6;-3.0	5.9	5.9	0.94986	Helicase, C-terminal (3);	0.000000	0.38778	U	0.001577	D	0.96765	0.8944	M	0.93062	3.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97695	1.0181	10	0.87932	D	0	.	16.3317	0.83023	0.0:0.0:0.0:1.0	.	314;635	A6NGI5;A2PYH4	.;HFM1_HUMAN	C	635;314;319;668	ENSP00000359454:Y635C;ENSP00000359453:Y314C	ENSP00000359450:Y319C	Y	-	2	0	HFM1	91590724	1.000000	0.71417	0.988000	0.46212	0.954000	0.61252	7.981000	0.88123	2.264000	0.75181	0.533000	0.62120	TAT		0.358	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		7	35	0	0	0	1	0	7	35				
RASGRF1	5923	broad.mit.edu	37	15	79350810	79350810	+	Missense_Mutation	SNP	C	C	T	rs140019990	byFrequency	TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr15:79350810C>T	ENST00000419573.3	-	3	671	c.397G>A	c.(397-399)Gcc>Acc	p.A133T	RASGRF1_ENST00000558480.2_Missense_Mutation_p.A133T|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	133					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TGCTCTGTGGCGAGGGTCCTG	0.577													C|||	2	0.000399361	0.0	0.0029	5008	,	,		21519	0.0		0.0	False		,,,				2504	0.0					ENST00000419573.3																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(397-399)Gcc>Acc		Ras protein-specific guanine nucleotide-releasing factor 1		C	THR/ALA,THR/ALA	1,4391	2.1+/-5.4	0,1,2195	114.0	95.0	102.0		397,397	4.3	1.0	15	dbSNP_134	102	0,8586		0,0,4293	no	missense,missense	RASGRF1	NM_001145648.1,NM_002891.4	58,58	0,1,6488	TT,TC,CC		0.0,0.0228,0.0077	possibly-damaging,possibly-damaging	133/1258,133/1274	79350810	1,12977	2196	4293	6489	SO:0001583	missense	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79350810C>T	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.397G>A	15.37:g.79350810C>T	ENSP00000405963:p.Ala133Thr					RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.A133T	p.A133T	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN			3	671	-			133					F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	c.397G>A	CCDS10309.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	C	12.62	1.991180	0.35131	2.28E-4	0.0	ENSG00000058335	ENST00000419573;ENST00000394741	T	0.43688	0.94	4.29	4.29	0.51040	.	0.000000	0.85682	D	0.000000	T	0.24699	0.0599	L	0.44542	1.39	0.80722	D	1	P;P;P;P	0.44734	0.755;0.755;0.755;0.842	B;B;B;B	0.33042	0.145;0.145;0.107;0.157	T	0.32771	-0.9894	10	0.66056	D	0.02	.	14.6059	0.68478	0.0:1.0:0.0:0.0	.	133;133;133;133	A8K270;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	T	133	ENSP00000405963:A133T	ENSP00000378224:A133T	A	-	1	0	RASGRF1	77137865	1.000000	0.71417	1.000000	0.80357	0.079000	0.17450	4.488000	0.60300	2.366000	0.80165	0.542000	0.68232	GCC		0.577	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		8	55	0	0	0	1	0	8	55				
SLC7A13	157724	broad.mit.edu	37	8	87242429	87242429	+	Silent	SNP	G	G	A			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr8:87242429G>A	ENST00000297524.3	-	1	181	c.78C>T	c.(76-78)atC>atT	p.I26I	SLC7A13_ENST00000520624.1_Intron|SLC7A13_ENST00000419776.2_Silent_p.I26I	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	26						integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						CTGCACCAATGATATTAATAA	0.433																																						ENST00000297524.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						c.(76-78)atC>atT		solute carrier family 7 (anionic amino acid transporter), member 13							76.0	71.0	72.0					8																	87242429		2203	4300	6503	SO:0001819	synonymous_variant	157724					integral to membrane	amino acid transmembrane transporter activity	g.chr8:87242429G>A	AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893		"""Solute carriers"""	23092	protein-coding gene	gene with protein product						11907033, 11943479	Standard	XM_005250804		Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.78C>T	8.37:g.87242429G>A						SLC7A13_ENST00000520624.1_Intron|SLC7A13_ENST00000419776.2_Silent_p.I26I	p.I26I	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN			1	181	-			26					Q05C37|Q08AH9|Q96N84	Silent	SNP	ENST00000297524.3	37	c.78C>T	CCDS34917.1																																																																																				0.433	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374704.1	NM_138817		13	73	0	0	0	1	0	13	73				
OR2B3	442184	broad.mit.edu	37	6	29054372	29054372	+	Silent	SNP	A	A	G			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr6:29054372A>G	ENST00000377173.2	-	1	718	c.654T>C	c.(652-654)taT>taC	p.Y218Y		NM_001005226.2	NP_001005226.1	O76000	OR2B3_HUMAN	olfactory receptor, family 2, subfamily B, member 3	218						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						CTATGAAGCCATAGGAGATGA	0.428																																						ENST00000377173.2																			0				breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						c.(652-654)taT>taC		olfactory receptor, family 2, subfamily B, member 3							107.0	96.0	100.0					6																	29054372		2203	4300	6503	SO:0001819	synonymous_variant	442184							g.chr6:29054372A>G		CCDS34358.1	6p22.2-p21.31	2012-08-09	2008-10-22	2008-10-22	ENSG00000204703	ENSG00000204703		"""GPCR / Class A : Olfactory receptors"""	8238	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily B, member 3 pseudogene"""	OR2B3P			Standard	NM_001005226		Approved	OR6-4	uc003nlx.3	O76000	OTTHUMG00000031226	ENST00000377173.2:c.654T>C	6.37:g.29054372A>G							p.Y218Y	NM_001005226.2	NP_001005226.1					1	718	-								B0UYQ1|Q5ST41|Q96R13	Silent	SNP	ENST00000377173.2	37	c.654T>C	CCDS34358.1																																																																																				0.428	OR2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076469.2			12	60	0	0	0	1	0	12	60				
PHF7	51533	broad.mit.edu	37	3	52457249	52457249	+	Silent	SNP	G	G	A			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr3:52457249G>A	ENST00000327906.3	+	11	1722	c.1062G>A	c.(1060-1062)aaG>aaA	p.K354K	PHF7_ENST00000347025.2_Silent_p.K315K	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7	354						Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		TATTAGAAAAGCCAGAGTCCT	0.498																																						ENST00000327906.3																			0				breast(2)|large_intestine(4)|lung(3)	9						c.(1060-1062)aaG>aaA		PHD finger protein 7							65.0	68.0	67.0					3																	52457249		2203	4300	6503	SO:0001819	synonymous_variant	51533					nucleus	zinc ion binding	g.chr3:52457249G>A	AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"""Zinc fingers, PHD-type"""	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495	ENST00000327906.3:c.1062G>A	3.37:g.52457249G>A						PHF7_ENST00000478707.1_Silent_p.K354K|PHF7_ENST00000347025.2_Silent_p.K315K	p.K354K	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)	11	1722	+			354					K4DI82	Silent	SNP	ENST00000327906.3	37	c.1062G>A	CCDS2854.1	.	.	.	.	.	.	.	.	.	.	G	8.778	0.927483	0.18056	.	.	ENSG00000010318	ENST00000461861	.	.	.	5.06	-0.593	0.11667	.	.	.	.	.	T	0.43700	0.1259	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24977	-1.0145	4	.	.	.	-7.2873	3.921	0.09244	0.2358:0.0:0.4577:0.3065	.	.	.	.	N	299	.	.	S	+	2	0	PHF7	52432289	0.135000	0.22499	0.993000	0.49108	0.953000	0.61014	-1.228000	0.02948	-0.041000	0.13558	0.655000	0.94253	AGC		0.498	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	NM_016483		13	50	0	0	0	1	0	13	50				
DMWD	1762	broad.mit.edu	37	19	46289614	46289614	+	Silent	SNP	G	G	A			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr19:46289614G>A	ENST00000270223.6	-	3	1185	c.1140C>T	c.(1138-1140)acC>acT	p.T380T	AC011530.4_ENST00000593999.1_5'Flank|DMWD_ENST00000377735.3_Silent_p.T380T|DMWD_ENST00000601370.1_5'Flank	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	380										central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		CTGCCCTTGTGGTGTAGGGGT	0.687																																						ENST00000270223.6																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(1138-1140)acC>acT		dystrophia myotonica, WD repeat containing							41.0	43.0	42.0					19																	46289614		2198	4289	6487	SO:0001819	synonymous_variant	1762				meiosis			g.chr19:46289614G>A	L19267	CCDS33054.1	19q13.32	2013-01-09	2007-02-20		ENSG00000185800	ENSG00000185800		"""WD repeat domain containing"""	2936	protein-coding gene	gene with protein product		609857	"""dystrophia myotonica-containing WD repeat motif"""			1302022	Standard	NM_004943		Approved	DMR-N9, gene59, D19S593E	uc021uwc.1	Q09019	OTTHUMG00000169044	ENST00000270223.6:c.1140C>T	19.37:g.46289614G>A						DMWD_ENST00000377735.3_Silent_p.T380T	p.T380T	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)	3	1185	-		Ovarian(192;0.0308)|all_neural(266;0.112)	380						Silent	SNP	ENST00000270223.6	37	c.1140C>T	CCDS33054.1																																																																																				0.687	DMWD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402063.1	NM_004943		25	76	0	0	0	1	0	25	76				
MYO19	80179	broad.mit.edu	37	17	34859817	34859817	+	Missense_Mutation	SNP	T	T	C	rs192033792		TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr17:34859817T>C	ENST00000431794.3	-	20	2471	c.1949A>G	c.(1948-1950)cAt>cGt	p.H650R	MYO19_ENST00000268852.9_Missense_Mutation_p.H450R	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	650	Myosin motor.					cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		AGCACTGATATGGATGGTCTC	0.637													T|||	1	0.000199681	0.0	0.0	5008	,	,		19516	0.0		0.001	False		,,,				2504	0.0					ENST00000431794.3																			0				endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20						c.(1948-1950)cAt>cGt		myosin XIX							21.0	24.0	23.0					17																	34859817		2067	4201	6268	SO:0001583	missense	80179					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr17:34859817T>C	BC008900	CCDS45654.1, CCDS54112.1, CCDS59283.1	17q12	2014-08-12	2007-09-26	2007-09-26	ENSG00000278259	ENSG00000278259		"""Myosins / Myosin superfamily : Class XIX"""	26234	protein-coding gene	gene with protein product			"""myosin head domain containing 1"""	MYOHD1		17877792, 19932026	Standard	NM_001033580		Approved	FLJ22865	uc010wcy.2	Q96H55	OTTHUMG00000188437	ENST00000431794.3:c.1949A>G	17.37:g.34859817T>C	ENSP00000409936:p.His650Arg					MYO19_ENST00000268852.9_Missense_Mutation_p.H450R	p.H650R	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	20	2471	-		Breast(25;0.00957)|Ovarian(249;0.17)	650			Myosin head-like.		Q59GS4|Q9H5X2	Missense_Mutation	SNP	ENST00000431794.3	37	c.1949A>G	CCDS54112.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	T	6.624	0.483595	0.12581	.	.	ENSG00000141140	ENST00000431794;ENST00000268852	D;D	0.93763	-1.69;-3.28	5.63	5.63	0.86233	Myosin head, motor domain (2);	.	.	.	.	D	0.85362	0.5679	N	0.00424	-1.51	0.80722	D	1	B;D	0.56287	0.37;0.975	B;P	0.56343	0.123;0.796	D	0.90043	0.4143	9	0.87932	D	0	.	11.3461	0.49561	0.0:0.0:0.1517:0.8483	.	650;450	Q96H55;Q96H55-4	MYO19_HUMAN;.	R	650;450	ENSP00000409936:H650R;ENSP00000268852:H450R	ENSP00000268852:H450R	H	-	2	0	MYO19	31933930	1.000000	0.71417	0.997000	0.53966	0.958000	0.62258	4.094000	0.57721	2.145000	0.66743	0.460000	0.39030	CAT		0.637	MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451074.1	NM_025109		4	10	0	0	0	1	0	4	10				
RSF1	51773	broad.mit.edu	37	11	77402211	77402211	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr11:77402211C>A	ENST00000308488.6	-	9	3195	c.2893G>T	c.(2893-2895)Gaa>Taa	p.E965*	Y_RNA_ENST00000384089.1_RNA|RSF1_ENST00000360355.2_Nonsense_Mutation_p.E934*|RSF1_ENST00000480887.1_Nonsense_Mutation_p.E713*			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	965					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)			TACCTTCGTTCGGCACGCTCT	0.353																																						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.(2893-2895)Gaa>Taa		remodeling and spacing factor 1							144.0	140.0	141.0					11																	77402211		2199	4292	6491	SO:0001587	stop_gained	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.chr11:77402211C>A	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.2893G>T	11.37:g.77402211C>A	ENSP00000311513:p.Glu965*					RSF1_ENST00000360355.2_Nonsense_Mutation_p.E934*|RSF1_ENST00000480887.1_Nonsense_Mutation_p.E713*	p.E965*			Q96T23	RSF1_HUMAN	Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)		9	3195	-	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		965					Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Nonsense_Mutation	SNP	ENST00000308488.6	37	c.2893G>T	CCDS8253.1	.	.	.	.	.	.	.	.	.	.	C	43	10.156266	0.99349	.	.	ENSG00000048649	ENST00000308488;ENST00000480887;ENST00000360355;ENST00000531026;ENST00000526324	.	.	.	5.04	5.04	0.67666	.	0.000000	0.48767	D	0.000178	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-20.3277	18.1876	0.89797	0.0:1.0:0.0:0.0	.	.	.	.	X	965;713;934;74;766	.	ENSP00000311513:E965X	E	-	1	0	RSF1	77079859	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.590000	0.67530	2.612000	0.88384	0.467000	0.42956	GAA		0.353	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2	NM_016578		17	57	1	0	5.35267e-07	1	6.02511e-07	17	57				
OR11H6	122748	broad.mit.edu	37	14	20692042	20692042	+	Silent	SNP	A	A	G			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr14:20692042A>G	ENST00000315519.2	+	1	252	c.174A>G	c.(172-174)ctA>ctG	p.L58L		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	58						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)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		TGACACTGCTAGGGAATGGAG	0.478																																						ENST00000315519.2																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29						c.(172-174)ctA>ctG		olfactory receptor, family 11, subfamily H, member 6							138.0	130.0	132.0					14																	20692042		2203	4300	6503	SO:0001819	synonymous_variant	122748				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20692042A>G		CCDS32033.1	14q11.2	2013-09-24			ENSG00000176219	ENSG00000176219		"""GPCR / Class A : Olfactory receptors"""	15349	protein-coding gene	gene with protein product							Standard	NM_001004480		Approved		uc010tlc.2	Q8NGC7	OTTHUMG00000170850	ENST00000315519.2:c.174A>G	14.37:g.20692042A>G							p.L58L	NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)	1	252	+	all_cancers(95;0.00108)		58					Q6IF08	Silent	SNP	ENST00000315519.2	37	c.174A>G	CCDS32033.1																																																																																				0.478	OR11H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410676.1			13	64	0	0	0	1	0	13	64				
HTR1A	3350	broad.mit.edu	37	5	63256403	63256403	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr5:63256403C>T	ENST00000323865.3	-	1	1377	c.1144G>A	c.(1144-1146)Ggc>Agc	p.G382S	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	382					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	ATTATGGCGCCCAACAGGGTG	0.512																																						ENST00000323865.3																			0				cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(1144-1146)Ggc>Agc		5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						154.0	161.0	159.0					5																	63256403		2203	4300	6503	SO:0001583	missense	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63256403C>T	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.1144G>A	5.37:g.63256403C>T	ENSP00000316244:p.Gly382Ser					RP11-158J3.2_ENST00000502882.1_RNA	p.G382S	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	1377	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	382					Q6LAE7	Missense_Mutation	SNP	ENST00000323865.3	37	c.1144G>A	CCDS34168.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.500154	0.44455	.	.	ENSG00000178394	ENST00000323865	T	0.71579	-0.58	5.7	5.7	0.88788	GPCR, rhodopsin-like superfamily (1);	0.237201	0.41938	D	0.000790	T	0.60274	0.2256	N	0.21240	0.645	0.47584	D	0.999469	P	0.43231	0.801	B	0.43990	0.438	T	0.57106	-0.7868	10	0.22109	T	0.4	.	13.7557	0.62935	0.1535:0.8465:0.0:0.0	.	382	P08908	5HT1A_HUMAN	S	382	ENSP00000316244:G382S	ENSP00000316244:G382S	G	-	1	0	HTR1A	63292159	0.999000	0.42202	1.000000	0.80357	0.942000	0.58702	2.980000	0.49321	2.692000	0.91855	0.655000	0.94253	GGC		0.512	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		49	184	0	0	0	1	0	49	184				
PCDH11Y	83259	broad.mit.edu	37	Y	4968437	4968437	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chrY:4968437C>T	ENST00000333703.4	+	5	3298	c.2785C>T	c.(2785-2787)Cct>Tct	p.P929S	PCDH11Y_ENST00000362095.5_Missense_Mutation_p.P940S|PCDH11Y_ENST00000215473.6_Missense_Mutation_p.P940S	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	940					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						ACTAGACCTTCCTATTGATCT	0.428																																						ENST00000333703.4																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(2785-2787)Cct>Tct		protocadherin 11 Y-linked							34.0	45.0	43.0					Y																	4968437		661	2011	2672	SO:0001583	missense	83259				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrY:4968437C>T	AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"""Cadherins / Protocadherins : Non-clustered"""	15813	protein-coding gene	gene with protein product		400022	"""protocadherin 22"""	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000333703.4:c.2785C>T	Y.37:g.4968437C>T	ENSP00000330552:p.Pro929Ser					PCDH11Y_ENST00000362095.5_Missense_Mutation_p.P940S|PCDH11Y_ENST00000215473.6_Missense_Mutation_p.P940S	p.P929S	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN			5	3298	+			940					Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Missense_Mutation	SNP	ENST00000333703.4	37	c.2785C>T	CCDS14776.1																																																																																				0.428	PCDH11Y-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084979.2	NM_032973		29	33	0	0	0	1	0	29	33				
FAM20B	9917	broad.mit.edu	37	1	179041168	179041168	+	Silent	SNP	C	C	T	rs202186782		TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr1:179041168C>T	ENST00000263733.4	+	8	1455	c.1119C>T	c.(1117-1119)gaC>gaT	p.D373D		NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN	family with sequence similarity 20, member B	373						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						CTCATCTGGACGCCGTGGACC	0.552													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17543	0.0		0.0	False		,,,				2504	0.0					ENST00000263733.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						c.(1117-1119)gaC>gaT		family with sequence similarity 20, member B		C		0,4406		0,0,2203	98.0	93.0	95.0		1119	-2.3	0.1	1		95	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	FAM20B	NM_014864.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		373/410	179041168	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9917					Golgi membrane|integral to membrane	ATP binding|kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr1:179041168C>T	AB007944	CCDS1328.1	1q25.2	2013-04-29			ENSG00000116199	ENSG00000116199			23017	protein-coding gene	gene with protein product	"""glycosaminoglycan xylosylkinase"""	611063				9455484, 19473117	Standard	NM_014864		Approved	KIAA0475, GXK1	uc001gmc.3	O75063	OTTHUMG00000035073	ENST00000263733.4:c.1119C>T	1.37:g.179041168C>T							p.D373D	NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN			8	1455	+			373					Q5W0C3|Q5W0C4	Silent	SNP	ENST00000263733.4	37	c.1119C>T	CCDS1328.1																																																																																				0.552	FAM20B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084922.1	NM_014864		14	71	0	0	0	1	0	14	71				
EML4	27436	broad.mit.edu	37	2	42531679	42531679	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr2:42531679C>A	ENST00000318522.5	+	17	2217	c.1955C>A	c.(1954-1956)aCg>aAg	p.T652K	EML4_ENST00000401738.3_Missense_Mutation_p.T663K|EML4_ENST00000402711.2_Missense_Mutation_p.T594K|EML4_ENST00000453191.2_5'UTR	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	652					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)			EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						GCCATAGGAACGCACTCAGGC	0.448			T	ALK	NSCLC																																	ENST00000318522.5				Dom	yes		2	2p21	27436	T	echinoderm microtubule associated protein like 4			E	ALK		NSCLC	EML4/ALK(543)	0				NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1954-1956)aCg>aAg		echinoderm microtubule associated protein like 4							118.0	115.0	116.0					2																	42531679		2203	4300	6503	SO:0001583	missense	27436				microtubule-based process|mitosis	cytoplasm|microtubule	protein binding	g.chr2:42531679C>A	AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"""WD repeat domain containing"""	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.1955C>A	2.37:g.42531679C>A	ENSP00000320663:p.Thr652Lys					EML4_ENST00000401738.3_Missense_Mutation_p.T663K|EML4_ENST00000453191.2_5'UTR|EML4_ENST00000402711.2_Missense_Mutation_p.T594K	p.T652K	NM_019063.3	NP_061936.2	Q9HC35	EMAL4_HUMAN			17	2217	+			652					A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Missense_Mutation	SNP	ENST00000318522.5	37	c.1955C>A	CCDS1807.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.573472	0.86542	.	.	ENSG00000143924	ENST00000318522;ENST00000402711;ENST00000401738	T;T;T	0.58940	0.3;0.3;0.3	4.84	4.84	0.62591	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.091166	0.85682	D	0.000000	T	0.79088	0.4387	M	0.89287	3.02	0.80722	D	1	D;D;D	0.89917	0.997;0.992;1.0	D;P;D	0.71656	0.943;0.785;0.974	T	0.79629	-0.1724	10	0.32370	T	0.25	-6.4423	18.1471	0.89661	0.0:1.0:0.0:0.0	.	594;663;652	B5MCW9;B5MBZ0;Q9HC35	.;.;EMAL4_HUMAN	K	652;594;663	ENSP00000320663:T652K;ENSP00000385059:T594K;ENSP00000384939:T663K	ENSP00000320663:T652K	T	+	2	0	EML4	42385183	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.320000	0.79064	2.518000	0.84900	0.563000	0.77884	ACG		0.448	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250463.3	NM_019063		14	83	1	0	3.32936e-07	1	3.76655e-07	14	83				
MIR518A2	574491	broad.mit.edu	37	19	54244625	54244625	+	RNA	SNP	C	C	G			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr19:54244625C>G	ENST00000384966.1	+	0	87				MIR517C_ENST00000385103.1_RNA|MIR520H_ENST00000385126.1_RNA	NR_030213.1				microRNA 518a-2																		AAGAAAAGATCGTGCATCCTT	0.403																																						ENST00000385103.1																			0																				143.0	127.0	132.0					19																	54244625		1568	3582	5150			574492							g.chr19:54244625C>G			19q13.42	2011-09-12		2008-12-18	ENSG00000207699	ENSG00000207699		"""ncRNAs / Micro RNAs"""	32123	non-coding RNA	RNA, micro				MIRN518A-2, MIRN518A2			Standard	NR_030213		Approved	hsa-mir-518a-2	uc021vaq.1				19.37:g.54244625C>G								NR_030214.1						0	59	+									RNA	SNP	ENST00000384966.1	37																																																																																						0.403	MIR518A2-201	KNOWN	basic	miRNA	miRNA		NR_030213		9	50	0	0	0	1	0	9	50				
CDH4	1002	broad.mit.edu	37	20	60427861	60427861	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr20:60427861G>C	ENST00000360469.5	+	6	872	c.784G>C	c.(784-786)Gac>Cac	p.D262H	CDH4_ENST00000543233.1_Missense_Mutation_p.D188H	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	262	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GAACCCCATCGACCTGTACAT	0.597																																						ENST00000360469.5																			0				NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(784-786)Gac>Cac		cadherin 4, type 1, R-cadherin (retinal)							174.0	131.0	146.0					20																	60427861		2203	4300	6503	SO:0001583	missense	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60427861G>C	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.784G>C	20.37:g.60427861G>C	ENSP00000353656:p.Asp262His					CDH4_ENST00000543233.1_Missense_Mutation_p.D188H	p.D262H	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		6	872	+			262			Cadherin 1.		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	c.784G>C	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.562747	0.86335	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.51574	0.7;0.7	4.76	4.76	0.60689	Cadherin (4);Cadherin-like (1);	0.050803	0.85682	D	0.000000	T	0.65739	0.2720	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.70487	0.969	T	0.66048	-0.6020	9	.	.	.	.	17.758	0.88455	0.0:0.0:1.0:0.0	.	262	P55283	CADH4_HUMAN	H	262;170;188	ENSP00000353656:D262H;ENSP00000443301:D188H	.	D	+	1	0	CDH4	59861256	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	9.517000	0.98020	2.202000	0.70862	0.561000	0.74099	GAC		0.597	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		27	93	0	0	0	1	0	27	93				
TMTC4	84899	broad.mit.edu	37	13	101266634	101266634	+	Silent	SNP	G	G	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr13:101266634G>T	ENST00000376234.3	-	15	2019	c.1830C>A	c.(1828-1830)gcC>gcA	p.A610A	TMTC4_ENST00000342624.5_Silent_p.A629A|TMTC4_ENST00000328767.5_Silent_p.A499A	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	610						integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TCAGCACGGTGGCATTTCTCC	0.448																																						ENST00000342624.5																			0				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1885-1887)gcC>gcA		transmembrane and tetratricopeptide repeat containing 4							190.0	164.0	173.0					13																	101266634		2203	4300	6503	SO:0001819	synonymous_variant	84899					integral to membrane	binding	g.chr13:101266634G>T		CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247		"""Tetratricopeptide (TTC) repeat domain containing"""	25904	protein-coding gene	gene with protein product							Standard	XM_005254082		Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000376234.3:c.1830C>A	13.37:g.101266634G>T						TMTC4_ENST00000328767.5_Silent_p.A499A|TMTC4_ENST00000376234.3_Silent_p.A610A	p.A629A	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN			16	2145	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		610					A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Silent	SNP	ENST00000376234.3	37	c.1887C>A	CCDS41904.1																																																																																				0.448	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045649.2	NM_032813		21	79	1	0	9.90768e-06	1	1.09326e-05	21	79				
LPCAT3	10162	broad.mit.edu	37	12	7086357	7086357	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr12:7086357A>T	ENST00000261407.4	-	12	1500	c.1415T>A	c.(1414-1416)aTt>aAt	p.I472N	U47924.30_ENST00000606112.1_lincRNA|LPCAT3_ENST00000535021.1_5'UTR	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	472					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						TGCTTTGTGAATATAAGGCAA	0.403																																						ENST00000261407.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						c.(1414-1416)aTt>aAt		lysophosphatidylcholine acyltransferase 3							81.0	83.0	82.0					12																	7086357		2203	4300	6503	SO:0001583	missense	10162				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity	g.chr12:7086357A>T	U72515	CCDS8572.1	12p13.31	2010-05-12	2008-06-24	2008-06-24	ENSG00000111684	ENSG00000111684			30244	protein-coding gene	gene with protein product		611950	"""O-acyltransferase (membrane bound) domain containing 5"", ""membrane bound O-acyltransferase domain containing 5"""	OACT5, MBOAT5		8723724, 9074930, 18195019	Standard	NM_005768		Approved	C3F, nessy	uc001qsi.3	Q6P1A2	OTTHUMG00000168970	ENST00000261407.4:c.1415T>A	12.37:g.7086357A>T	ENSP00000261407:p.Ile472Asn					U47924.19_ENST00000564245.1_RNA|LPCAT3_ENST00000535021.1_5'UTR	p.I472N	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN			12	1500	-			472					B2RDH0|B7Z3N3|Q7KZS1|Q92980|Q9BW40	Missense_Mutation	SNP	ENST00000261407.4	37	c.1415T>A	CCDS8572.1	.	.	.	.	.	.	.	.	.	.	A	16.15	3.040275	0.55003	.	.	ENSG00000111684	ENST00000261407	T	0.74526	-0.85	4.77	4.77	0.60923	.	0.547984	0.19445	N	0.114088	T	0.59851	0.2224	N	0.24115	0.695	0.35552	D	0.803919	P	0.44195	0.828	B	0.36885	0.235	T	0.70212	-0.4934	10	0.39692	T	0.17	-15.4998	14.4699	0.67509	1.0:0.0:0.0:0.0	.	472	Q6P1A2	MBOA5_HUMAN	N	472	ENSP00000261407:I472N	ENSP00000261407:I472N	I	-	2	0	LPCAT3	6956618	1.000000	0.71417	0.082000	0.20525	0.878000	0.50629	6.499000	0.73683	2.007000	0.58848	0.459000	0.35465	ATT		0.403	LPCAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401812.1	NM_005768		11	42	0	0	0	1	0	11	42				
ADAMTS9	56999	broad.mit.edu	37	3	64526828	64526828	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr3:64526828C>A	ENST00000498707.1	-	36	5806	c.5464G>T	c.(5464-5466)Gct>Tct	p.A1822S	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.A1794S	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1822	GON. {ECO:0000255|PROSITE- ProRule:PRU00383}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GAAAACCCAGCGGCCGTGTAA	0.468																																						ENST00000498707.1																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100						c.(5464-5466)Gct>Tct		ADAM metallopeptidase with thrombospondin type 1 motif, 9							87.0	86.0	86.0					3																	64526828		2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64526828C>A	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.5464G>T	3.37:g.64526828C>A	ENSP00000418735:p.Ala1822Ser					ADAMTS9_ENST00000295903.4_Missense_Mutation_p.A1794S	p.A1822S	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	36	5806	-		Lung NSC(201;0.00682)	1822			GON.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.5464G>T	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.935456	0.92458	.	.	ENSG00000163638	ENST00000295903;ENST00000498707	T;T	0.18502	2.21;2.21	5.73	5.73	0.89815	Peptidase M12B, GON-ADAMTSs (2);	0.000000	0.85682	D	0.000000	T	0.36248	0.0960	L	0.43923	1.385	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.68353	0.957;0.957	T	0.01121	-1.1445	10	0.49607	T	0.09	.	19.9036	0.96999	0.0:1.0:0.0:0.0	.	1794;1822	B7ZVX9;Q9P2N4	.;ATS9_HUMAN	S	1794;1822	ENSP00000295903:A1794S;ENSP00000418735:A1822S	ENSP00000295903:A1794S	A	-	1	0	ADAMTS9	64501868	1.000000	0.71417	0.412000	0.26496	0.853000	0.48598	7.076000	0.76806	2.706000	0.92434	0.655000	0.94253	GCT		0.468	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			14	58	1	0	0.000151284	1	0.00016137	14	58				
DIAPH3	81624	broad.mit.edu	37	13	60566632	60566632	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr13:60566632C>T	ENST00000400324.4	-	10	1320	c.1100G>A	c.(1099-1101)cGt>cAt	p.R367H	DIAPH3_ENST00000400330.1_Missense_Mutation_p.R367H|DIAPH3_ENST00000267215.4_Missense_Mutation_p.R367H|DIAPH3_ENST00000400319.1_Missense_Mutation_p.R297H|DIAPH3_ENST00000377908.2_Missense_Mutation_p.R356H|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400320.1_Missense_Mutation_p.R321H	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	367	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		CAATCCACAACGCATAAATTC	0.363																																						ENST00000400324.4																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(1099-1101)cGt>cAt		diaphanous-related formin 3							76.0	68.0	71.0					13																	60566632		1873	4095	5968	SO:0001583	missense	81624				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr13:60566632C>T	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.1100G>A	13.37:g.60566632C>T	ENSP00000383178:p.Arg367His					DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Missense_Mutation_p.R297H|DIAPH3_ENST00000400320.1_Missense_Mutation_p.R321H|DIAPH3_ENST00000400330.1_Missense_Mutation_p.R367H|DIAPH3_ENST00000377908.2_Missense_Mutation_p.R356H|DIAPH3_ENST00000267215.4_Missense_Mutation_p.R367H	p.R367H	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN		GBM - Glioblastoma multiforme(99;2.77e-05)	10	1320	-		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)	367			GBD/FH3.		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	ENST00000400324.4	37	c.1100G>A	CCDS41898.1	.	.	.	.	.	.	.	.	.	.	C	29.4	4.998846	0.93227	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320;ENST00000267215;ENST00000267214;ENST00000453990	D;D;D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8;-1.8;-1.8	5.8	5.8	0.92144	GTPase-binding/formin homology 3 (1);Diaphanous FH3 (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.92993	0.7770	M	0.88105	2.93	0.54753	D	0.999987	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.998;0.992	D	0.93425	0.6780	10	0.72032	D	0.01	.	20.0465	0.97608	0.0:1.0:0.0:0.0	.	297;321;356;104;367	A8MYX0;C9JL55;C9JDG1;Q9NSV4-1;Q9NSV4	.;.;.;.;DIAP3_HUMAN	H	367;367;356;321;297;356;297;321;367;104;367	ENSP00000383178:R367H;ENSP00000383184:R367H;ENSP00000367141:R356H;ENSP00000383173:R297H;ENSP00000383174:R321H;ENSP00000267215:R367H	ENSP00000267214:R104H	R	-	2	0	DIAPH3	59464633	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.398000	0.79919	2.735000	0.93741	0.557000	0.71058	CGT		0.363	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		5	16	0	0	0	1	0	5	16				
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74808611	74808611	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr1:74808611A>T	ENST00000370899.3	+	10	1108	c.1071A>T	c.(1069-1071)caA>caT	p.Q357H	TNNI3K_ENST00000326637.3_Missense_Mutation_p.Q256H|FPGT-TNNI3K_ENST00000370895.1_Missense_Mutation_p.Q357H|RP11-439H8.4_ENST00000415549.2_RNA|TNNI3K_ENST00000370891.2_Missense_Mutation_p.Q357H|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.Q370H	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough																		ATCTGCTGCAAAGTGATTTGG	0.393																																						ENST00000370895.1																			0											c.(1069-1071)caA>caT									198.0	181.0	187.0					1																	74808611		2203	4300	6503	SO:0001583	missense	100526835					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	g.chr1:74808611A>T			1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.1071A>T	1.37:g.74808611A>T	ENSP00000359936:p.Gln357His					TNNI3K_ENST00000370891.2_Missense_Mutation_p.Q357H|TNNI3K_ENST00000326637.3_Missense_Mutation_p.Q256H|RP11-439H8.4_ENST00000415549.2_RNA|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.Q357H|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.Q357H	p.Q357H			Q59H18	TNI3K_HUMAN			10	1106	+			256						Missense_Mutation	SNP	ENST00000370899.3	37	c.1071A>T		.	.	.	.	.	.	.	.	.	.	A	6.597	0.478585	0.12521	.	.	ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000370899;ENST00000370895;ENST00000557284;ENST00000370891;ENST00000326637	T;T;T;T;T	0.66460	-0.21;-0.21;-0.09;-0.09;-0.21	5.77	-2.03	0.07365	Ankyrin repeat-containing domain (4);	0.056957	0.64402	D	0.000001	T	0.26448	0.0646	N	0.21545	0.675	0.37239	D	0.906019	B;B;B;B	0.11235	0.001;0.002;0.004;0.004	B;B;B;B	0.11329	0.006;0.003;0.003;0.002	T	0.03249	-1.1056	10	0.52906	T	0.07	.	4.9203	0.13867	0.2351:0.1183:0.5288:0.1178	.	256;357;357;357	Q59H18;Q59H18-1;Q59H18-4;Q59H18-3	TNI3K_HUMAN;.;.;.	H	357;357;357;357;256	ENSP00000359936:Q357H;ENSP00000359932:Q357H;ENSP00000450895:Q357H;ENSP00000359928:Q357H;ENSP00000322251:Q256H	ENSP00000322251:Q256H	Q	+	3	2	RP11-653A5.2;AC093158.1	74581199	0.954000	0.32549	0.492000	0.27490	0.027000	0.11550	0.111000	0.15458	-0.016000	0.14127	-0.256000	0.11100	CAA		0.393	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3			9	49	0	0	0	1	0	9	49				
CACNA1C	775	broad.mit.edu	37	12	2694584	2694584	+	Silent	SNP	G	G	T	rs371978680		TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr12:2694584G>T	ENST00000347598.4	+	17	2382	c.2382G>T	c.(2380-2382)ccG>ccT	p.P794P	CACNA1C_ENST00000399655.1_Silent_p.P794P|CACNA1C_ENST00000399597.1_Silent_p.P794P|CACNA1C_ENST00000399644.1_Silent_p.P794P|CACNA1C_ENST00000399621.1_Silent_p.P794P|CACNA1C_ENST00000399617.1_Silent_p.P794P|CACNA1C_ENST00000406454.3_Silent_p.P794P|CACNA1C_ENST00000399601.1_Silent_p.P794P|CACNA1C_ENST00000327702.7_Silent_p.P794P|CACNA1C_ENST00000344100.3_Silent_p.P794P|CACNA1C_ENST00000399638.1_Silent_p.P794P|CACNA1C_ENST00000399634.1_Silent_p.P794P|CACNA1C_ENST00000399591.1_Silent_p.P794P|CACNA1C_ENST00000402845.3_Silent_p.P794P|CACNA1C_ENST00000399641.1_Silent_p.P794P|CACNA1C_ENST00000480911.1_Silent_p.P794P|CACNA1C_ENST00000399649.1_Silent_p.P794P|CACNA1C_ENST00000399637.1_Silent_p.P794P|CACNA1C_ENST00000399595.1_Silent_p.P794P|CACNA1C_ENST00000399603.1_Silent_p.P794P|CACNA1C_ENST00000335762.5_Silent_p.P819P|CACNA1C_ENST00000399629.1_Silent_p.P794P|CACNA1C_ENST00000399606.1_Silent_p.P794P	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	794					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)	TGGAGAAGCCGGCAGTGGGGG	0.537																																						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.(2380-2382)ccG>ccT		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						23.0	29.0	27.0					12																	2694584		1897	4109	6006	SO:0001819	synonymous_variant	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.chr12:2694584G>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.2382G>T	12.37:g.2694584G>T						CACNA1C_ENST00000399603.1_Silent_p.P794P|CACNA1C_ENST00000327702.7_Silent_p.P794P|CACNA1C_ENST00000399606.1_Silent_p.P794P|CACNA1C_ENST00000399621.1_Silent_p.P794P|CACNA1C_ENST00000399637.1_Silent_p.P794P|CACNA1C_ENST00000399591.1_Silent_p.P794P|CACNA1C_ENST00000399649.1_Silent_p.P794P|CACNA1C_ENST00000399597.1_Silent_p.P794P|CACNA1C_ENST00000406454.3_Silent_p.P794P|CACNA1C_ENST00000399595.1_Silent_p.P794P|CACNA1C_ENST00000480911.1_Silent_p.P794P|CACNA1C_ENST00000402845.3_Silent_p.P794P|CACNA1C_ENST00000335762.5_Silent_p.P819P|CACNA1C_ENST00000399634.1_Silent_p.P794P|CACNA1C_ENST00000399641.1_Silent_p.P794P|CACNA1C_ENST00000347598.4_Silent_p.P794P|CACNA1C_ENST00000399617.1_Silent_p.P794P|CACNA1C_ENST00000344100.3_Silent_p.P794P|CACNA1C_ENST00000399601.1_Silent_p.P794P|CACNA1C_ENST00000399629.1_Silent_p.P794P|CACNA1C_ENST00000399638.1_Silent_p.P794P|CACNA1C_ENST00000399644.1_Silent_p.P794P	p.P794P	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)	17	2647	+			794					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	Silent	SNP	ENST00000347598.4	37	c.2382G>T	CCDS44788.1																																																																																				0.537	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		7	10	1	0	0.0477658	1	0.0493066	7	10				
COBL	23242	broad.mit.edu	37	7	51093059	51093059	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr7:51093059G>C	ENST00000265136.7	-	12	3680	c.3515C>G	c.(3514-3516)tCt>tGt	p.S1172C	COBL_ENST00000395542.2_Missense_Mutation_p.S1254C|RP4-724E13.2_ENST00000582616.1_RNA	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	1172					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CTCAGAAGCAGAGGATGCCAC	0.527																																					NSCLC(189;2119 2138 12223 30818 34679)	ENST00000395542.2																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(3760-3762)tCt>tGt		cordon-bleu WH2 repeat protein							33.0	35.0	35.0					7																	51093059		2203	4299	6502	SO:0001583	missense	23242							g.chr7:51093059G>C	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.3515C>G	7.37:g.51093059G>C	ENSP00000265136:p.Ser1172Cys					COBL_ENST00000265136.7_Missense_Mutation_p.S1172C	p.S1254C			O75128	COBL_HUMAN			14	3945	-	Glioma(55;0.08)		1172			WH2 3.		A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	37	c.3761C>G	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.912236	0.52439	.	.	ENSG00000106078	ENST00000265136;ENST00000431948;ENST00000395542	T;T;T	0.46819	0.86;0.86;0.86	5.61	-6.78	0.01721	.	2.074600	0.02583	N	0.099033	T	0.52025	0.1709	N	0.24115	0.695	0.09310	N	1	D;D	0.76494	0.997;0.999	P;D	0.63192	0.87;0.912	T	0.58629	-0.7603	10	0.41790	T	0.15	.	16.2552	0.82515	0.7996:0.0:0.2004:0.0	.	1172;714	O75128;O75128-6	COBL_HUMAN;.	C	1172;1057;1254	ENSP00000265136:S1172C;ENSP00000413498:S1057C;ENSP00000378912:S1254C	ENSP00000265136:S1172C	S	-	2	0	COBL	51060553	0.000000	0.05858	0.000000	0.03702	0.117000	0.20001	0.419000	0.21247	-1.219000	0.02597	-0.355000	0.07637	TCT		0.527	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		8	51	0	0	0	1	0	8	51				
ZNF518B	85460	broad.mit.edu	37	4	10445837	10445837	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr4:10445837C>G	ENST00000326756.3	-	3	2554	c.2116G>C	c.(2116-2118)Ggt>Cgt	p.G706R		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	706					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TCTTGAATACCTTCAGAGGTA	0.463																																						ENST00000326756.3																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						c.(2116-2118)Ggt>Cgt		zinc finger protein 518B							99.0	99.0	99.0					4																	10445837		2203	4300	6503	SO:0001583	missense	85460				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:10445837C>G	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"""Zinc fingers, C2H2-type"""	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.2116G>C	4.37:g.10445837C>G	ENSP00000317614:p.Gly706Arg						p.G706R	NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN			3	2554	-			706					Q96LN8	Missense_Mutation	SNP	ENST00000326756.3	37	c.2116G>C	CCDS33960.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.272764	0.40194	.	.	ENSG00000178163	ENST00000326756	T	0.01584	4.75	6.17	-1.38	0.09027	.	1.208780	0.05753	N	0.603462	T	0.01320	0.0043	N	0.22421	0.69	0.09310	N	1	P	0.42409	0.779	B	0.33690	0.168	T	0.47898	-0.9081	10	0.42905	T	0.14	-1.8828	5.258	0.15558	0.2294:0.4514:0.0:0.3192	.	706	Q9C0D4	Z518B_HUMAN	R	706	ENSP00000317614:G706R	ENSP00000317614:G706R	G	-	1	0	ZNF518B	10054935	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.149000	0.10204	-0.144000	0.11314	-0.140000	0.14226	GGT		0.463	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		16	59	0	0	0	1	0	16	59				
OR6A2	8590	broad.mit.edu	37	11	6816034	6816034	+	Silent	SNP	G	G	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr11:6816034G>T	ENST00000332601.3	-	1	1094	c.906C>A	c.(904-906)gtC>gtA	p.V302V		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	302					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GGGCTCTCTTGACCTCTTGAT	0.463																																						ENST00000332601.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(904-906)gtC>gtA		olfactory receptor, family 6, subfamily A, member 2							134.0	127.0	130.0					11																	6816034		2201	4296	6497	SO:0001819	synonymous_variant	8590				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6816034G>T	AB065822	CCDS7772.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184933	ENSG00000184933		"""GPCR / Class A : Olfactory receptors"""	15301	protein-coding gene	gene with protein product		608495		OR6A2P, OR6A1			Standard	NM_003696		Approved	OR11-55	uc001mes.1	O95222	OTTHUMG00000165736	ENST00000332601.3:c.906C>A	11.37:g.6816034G>T							p.V302V	NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	1094	-		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	302					Q3MJC7|Q6IF35|Q9H206	Silent	SNP	ENST00000332601.3	37	c.906C>A	CCDS7772.1																																																																																				0.463	OR6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385981.1	NM_003696		12	60	1	0	7.03913e-09	1	8.16976e-09	12	60				
BICD1	636	broad.mit.edu	37	12	32481214	32481214	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr12:32481214T>A	ENST00000281474.5	+	5	1928	c.1825T>A	c.(1825-1827)Tca>Aca	p.S609T	BICD1_ENST00000548411.1_Missense_Mutation_p.S609T	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	609					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			TGCCCCACCGTCATCTCCAGT	0.463																																						ENST00000548411.1																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(1825-1827)Tca>Aca		bicaudal D homolog 1 (Drosophila)							203.0	193.0	196.0					12																	32481214		2203	4300	6503	SO:0001583	missense	636				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton	g.chr12:32481214T>A	U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"""Bicaudal D (Drosophila) homolog 1"""			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.1825T>A	12.37:g.32481214T>A	ENSP00000281474:p.Ser609Thr					BICD1_ENST00000281474.5_Missense_Mutation_p.S609T	p.S609T	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0201)		5	2006	+	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		609					A8K2C3|F8W113|O43892|O43893	Missense_Mutation	SNP	ENST00000281474.5	37	c.1825T>A	CCDS8726.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.947468	0.73672	.	.	ENSG00000151746	ENST00000548411;ENST00000281474	T;T	0.46819	0.9;0.86	5.2	5.2	0.72013	.	0.546761	0.17524	N	0.171125	T	0.52175	0.1718	L	0.54323	1.7	0.80722	D	1	P;D	0.53312	0.844;0.959	B;P	0.50049	0.42;0.629	T	0.44590	-0.9318	10	0.21540	T	0.41	.	15.0722	0.72046	0.0:0.0:0.0:1.0	.	609;609	F8W113;Q96G01	.;BICD1_HUMAN	T	609	ENSP00000446793:S609T;ENSP00000281474:S609T	ENSP00000281474:S609T	S	+	1	0	BICD1	32372481	1.000000	0.71417	0.931000	0.37212	0.969000	0.65631	5.603000	0.67619	1.956000	0.56807	0.533000	0.62120	TCA		0.463	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1	NM_001714		21	108	0	0	0	1	0	21	108				
IRX2	153572	broad.mit.edu	37	5	2748564	2748564	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr5:2748564C>A	ENST00000382611.6	-	3	1506	c.1258G>T	c.(1258-1260)Gcc>Tcc	p.A420S	IRX2_ENST00000302057.5_Missense_Mutation_p.A420S|IRX2_ENST00000502957.1_5'Flank	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	420					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		GTGTGCAGGGCCTCGCCGGGG	0.721																																						ENST00000382611.6																			0				breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26						c.(1258-1260)Gcc>Tcc		iroquois homeobox 2							12.0	14.0	13.0					5																	2748564		2172	4233	6405	SO:0001583	missense	153572					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:2748564C>A	AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"""Homeoboxes / TALE class"""	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.1258G>T	5.37:g.2748564C>A	ENSP00000372056:p.Ala420Ser					IRX2_ENST00000302057.5_Missense_Mutation_p.A420S	p.A420S	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN		GBM - Glioblastoma multiforme(108;0.204)	3	1506	-			420					Q68A19|Q7Z2I7	Missense_Mutation	SNP	ENST00000382611.6	37	c.1258G>T	CCDS3868.1	.	.	.	.	.	.	.	.	.	.	C	6.724	0.502233	0.12822	.	.	ENSG00000170561	ENST00000382611;ENST00000302057	T;T	0.69806	-0.43;-0.43	4.43	2.6	0.31112	.	1.508580	0.03891	N	0.278668	T	0.43722	0.1260	N	0.03608	-0.345	0.20403	N	0.999902	B	0.09022	0.002	B	0.14023	0.01	T	0.30446	-0.9978	10	0.10111	T	0.7	-6.5116	9.5054	0.39044	0.0:0.8375:0.0:0.1625	.	420	Q9BZI1	IRX2_HUMAN	S	420	ENSP00000372056:A420S;ENSP00000307006:A420S	ENSP00000307006:A420S	A	-	1	0	IRX2	2801564	0.973000	0.33851	0.995000	0.50966	0.964000	0.63967	1.378000	0.34328	0.409000	0.25649	0.561000	0.74099	GCC		0.721	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2			9	15	1	0	3.09899e-07	1	3.52372e-07	9	15				
ARF4	378	broad.mit.edu	37	3	57561386	57561386	+	Silent	SNP	T	T	C			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr3:57561386T>C	ENST00000303436.6	-	5	612	c.345A>G	c.(343-345)gaA>gaG	p.E115E	ARF4_ENST00000489843.1_Silent_p.E6E|ARF4_ENST00000496292.1_Silent_p.E88E	NM_001660.3	NP_001651.1	P18085	ARF4_HUMAN	ADP-ribosylation factor 4	115					activation of phospholipase D activity (GO:0031584)|brain development (GO:0007420)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein transport (GO:0015031)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to axon injury (GO:0048678)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|ruffle membrane (GO:0032587)	epidermal growth factor receptor binding (GO:0005154)|GTP binding (GO:0005525)			large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0449)|Kidney(284;0.0561)		CATCTCTCAATTCATCTACCA	0.378																																						ENST00000303436.6																			0				large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	7						c.(343-345)gaA>gaG		ADP-ribosylation factor 4							84.0	80.0	81.0					3																	57561386		2203	4300	6503	SO:0001819	synonymous_variant	378				protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus	GTP binding|GTPase activity	g.chr3:57561386T>C	M36341	CCDS2884.1	3p21.2-p21.1	2007-03-19			ENSG00000168374	ENSG00000168374		"""ADP-ribosylation factors"""	655	protein-coding gene	gene with protein product		601177	"""ADP-ribosylation factor 2"""	ARF2		2107548	Standard	NM_001660		Approved		uc003dix.4	P18085	OTTHUMG00000158601	ENST00000303436.6:c.345A>G	3.37:g.57561386T>C						ARF4_ENST00000496292.1_Silent_p.E88E|ARF4_ENST00000489843.1_Silent_p.E6E	p.E115E	NM_001660.3	NP_001651.1	P18085	ARF4_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0449)|Kidney(284;0.0561)	5	612	-			115					B2R7J7|P21371	Silent	SNP	ENST00000303436.6	37	c.345A>G	CCDS2884.1																																																																																				0.378	ARF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351443.1	NM_001660		21	53	0	0	0	1	0	21	53				
OR4D10	390197	broad.mit.edu	37	11	59245110	59245110	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr11:59245110G>A	ENST00000530162.1	+	1	265	c.208G>A	c.(208-210)Gat>Aat	p.D70N		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATCTATTGCCGATATCTGCTT	0.443																																						ENST00000530162.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(208-210)Gat>Aat		olfactory receptor, family 4, subfamily D, member 10							169.0	170.0	169.0					11																	59245110		2086	4242	6328	SO:0001583	missense	390197				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59245110G>A	AB065808	CCDS53636.1	11q12.1	2012-10-03		2004-03-10	ENSG00000254466	ENSG00000254466		"""GPCR / Class A : Olfactory receptors"""	15173	protein-coding gene	gene with protein product				OR4D10P			Standard	NM_001004705		Approved	OST711	uc001nnz.1	Q8NGI6	OTTHUMG00000167341	ENST00000530162.1:c.208G>A	11.37:g.59245110G>A	ENSP00000436424:p.Asp70Asn						p.D70N	NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN			1	265	+			70					B2RNH6	Missense_Mutation	SNP	ENST00000530162.1	37	c.208G>A	CCDS53636.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.774183	0.31411	.	.	ENSG00000254466	ENST00000530162	T	0.01165	5.24	4.22	4.22	0.49857	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.10809	0.0264	M	0.93507	3.425	0.09310	N	1	D	0.89917	1.0	D	0.79108	0.992	T	0.04153	-1.0973	9	0.87932	D	0	.	15.5094	0.75769	0.0:0.0:1.0:0.0	.	70	Q8NGI6	OR4DA_HUMAN	N	70	ENSP00000436424:D70N	ENSP00000436424:D70N	D	+	1	0	OR4D10	59001686	0.998000	0.40836	0.302000	0.25058	0.013000	0.08279	2.753000	0.47524	2.029000	0.59856	0.655000	0.94253	GAT		0.443	OR4D10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394235.1	NM_001004705		32	103	0	0	0	1	0	32	103				
DOCK5	80005	broad.mit.edu	37	8	25249422	25249422	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr8:25249422G>A	ENST00000276440.7	+	43	4410	c.4366G>A	c.(4366-4368)Gcc>Acc	p.A1456T		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1456	DHR-2.				positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CTACTACAGAGCCAATGAAGT	0.438																																					Pancreas(145;34 1887 3271 10937 30165)	ENST00000276440.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(4366-4368)Gcc>Acc		dedicator of cytokinesis 5							76.0	68.0	70.0					8																	25249422		2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25249422G>A		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.4366G>A	8.37:g.25249422G>A	ENSP00000276440:p.Ala1456Thr						p.A1456T	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	43	4410	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	1456			DHR-2.		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.4366G>A	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.864857	0.32977	.	.	ENSG00000147459	ENST00000276440	T	0.17054	2.3	5.45	5.45	0.79879	.	0.112278	0.64402	D	0.000009	T	0.14356	0.0347	L	0.28192	0.835	0.39248	D	0.963983	B;B	0.16603	0.018;0.018	B;B	0.21360	0.034;0.034	T	0.04900	-1.0919	10	0.45353	T	0.12	.	14.4956	0.67685	0.0:0.0:0.8532:0.1467	.	1446;1456	D3DSS6;Q9H7D0	.;DOCK5_HUMAN	T	1456	ENSP00000276440:A1456T	ENSP00000276440:A1456T	A	+	1	0	DOCK5	25305339	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.074000	0.57577	2.708000	0.92522	0.650000	0.86243	GCC		0.438	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		6	23	0	0	0	1	0	6	23				
CHDC2	286464	broad.mit.edu	37	X	36156478	36156478	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chrX:36156478T>A	ENST00000313548.4	+	10	1343	c.1157T>A	c.(1156-1158)tTt>tAt	p.F386Y		NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2	386	CH.					integral component of membrane (GO:0016021)											GAGTCTCATTTTATAAATATG	0.284																																						ENST00000378660.1																			0											c.(1156-1158)tTt>tAt		calponin homology domain containing 2							45.0	41.0	42.0					X																	36156478		2200	4287	6487	SO:0001583	missense	286464							g.chrX:36156478T>A	AK093920	CCDS14238.1	Xp21.1	2014-08-07	2012-11-28	2012-11-28	ENSG00000176034	ENSG00000176034			26708	protein-coding gene	gene with protein product			"""chromosome X open reading frame 59"""	CXorf59			Standard	NM_173695		Approved	FLJ36601, RP13-11B7.1	uc004ddk.1	Q8N9S7	OTTHUMG00000021351	ENST00000313548.4:c.1157T>A	X.37:g.36156478T>A	ENSP00000324767:p.Phe386Tyr					CHDC2_ENST00000313548.4_Missense_Mutation_p.F386Y	p.F386Y							10	1345	+									Missense_Mutation	SNP	ENST00000313548.4	37	c.1157T>A	CCDS14238.1	.	.	.	.	.	.	.	.	.	.	T	13.05	2.122450	0.37436	.	.	ENSG00000176034	ENST00000378660;ENST00000313548	D;D	0.94828	-3.53;-3.53	5.16	5.16	0.70880	Calponin homology domain (3);	0.226752	0.24708	N	0.036254	D	0.95962	0.8685	L	0.56769	1.78	0.22017	N	0.999415	D	0.71674	0.998	D	0.65874	0.939	D	0.91181	0.4976	10	0.72032	D	0.01	-5.3274	13.2738	0.60177	0.0:0.0:0.0:1.0	.	386	Q8N9S7	CX059_HUMAN	Y	386	ENSP00000367929:F386Y;ENSP00000324767:F386Y	ENSP00000324767:F386Y	F	+	2	0	CXorf59	36066399	1.000000	0.71417	0.031000	0.17742	0.020000	0.10135	5.432000	0.66514	1.728000	0.51552	0.481000	0.45027	TTT		0.284	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173695		5	3	0	0	0	1	0	5	3				
DNMT3A	1788	broad.mit.edu	37	2	25457192	25457192	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr2:25457192G>A	ENST00000264709.3	-	23	3032	c.2695C>T	c.(2695-2697)Cgc>Tgc	p.R899C	DNMT3A_ENST00000402667.1_Missense_Mutation_p.R676C|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R710C|DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000321117.5_Missense_Mutation_p.R899C	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	899	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGAGGTGGCGGATGACTGGC	0.527			"""Mis, F, N, S"""		AML																																	ENST00000264709.3				Rec	yes		2	2p23	1788	"""Mis, F, N, S"""	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.(2695-2697)Cgc>Tgc		DNA (cytosine-5-)-methyltransferase 3 alpha							69.0	65.0	66.0					2																	25457192		2203	4300	6503	SO:0001583	missense	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25457192G>A		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2695C>T	2.37:g.25457192G>A	ENSP00000264709:p.Arg899Cys					DNMT3A_ENST00000402667.1_Missense_Mutation_p.R676C|DNMT3A_ENST00000321117.5_Missense_Mutation_p.R899C|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R710C	p.R899C	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			23	3032	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		899					E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	c.2695C>T	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.871499	0.72065	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.97352	-4.35;-4.35;-4.35;-4.35	5.82	5.82	0.92795	.	0.046052	0.85682	D	0.000000	D	0.98476	0.9492	M	0.81682	2.555	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.993;0.998	D	0.99349	1.0914	10	0.87932	D	0	-8.768	18.6564	0.91455	0.0:0.0:1.0:0.0	.	899;710	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	C	710;899;899;676	ENSP00000370122:R710C;ENSP00000324375:R899C;ENSP00000264709:R899C;ENSP00000384237:R676C	ENSP00000264709:R899C	R	-	1	0	DNMT3A	25310696	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.576000	0.74023	2.745000	0.94114	0.561000	0.74099	CGC		0.527	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		10	47	0	0	0	1	0	10	47				
PCDHGB7	56099	broad.mit.edu	37	5	140798237	140798237	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr5:140798237G>C	ENST00000398594.2	+	1	811	c.811G>C	c.(811-813)Gag>Cag	p.E271Q	PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA11_ENST00000518882.1_5'Flank	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	271	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E271*(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACCAGGACGAGGGCATCAA	0.527																																						ENST00000398594.2																			1	Substitution - Nonsense(1)	p.E271*(1)	lung(1)	central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56						c.(811-813)Gag>Cag									54.0	56.0	56.0					5																	140798237		2051	4198	6249	SO:0001583	missense	56099							g.chr5:140798237G>C	AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"""Cadherins / Protocadherins : Clustered"""	8714	other	protocadherin	"""cadherin ME6"""	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.811G>C	5.37:g.140798237G>C	ENSP00000381594:p.Glu271Gln					PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron	p.E271Q	NM_018927.3	NP_061750.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	811	+								Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	37	c.811G>C	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	g	20.7	4.027649	0.75390	.	.	ENSG00000254122	ENST00000398594	T	0.52057	0.68	5.7	5.7	0.88788	Cadherin (5);Cadherin-like (1);	0.263272	0.19176	U	0.120805	T	0.66317	0.2777	M	0.74467	2.265	0.25483	N	0.987717	D;D	0.65815	0.989;0.995	P;D	0.62955	0.826;0.909	T	0.62053	-0.6935	10	0.66056	D	0.02	.	14.0497	0.64727	0.0739:0.0:0.9261:0.0	.	271;271	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	Q	271	ENSP00000381594:E271Q	ENSP00000381594:E271Q	E	+	1	0	PCDHGB7	140778421	0.832000	0.29368	0.955000	0.39395	0.955000	0.61496	2.311000	0.43717	2.711000	0.92665	0.561000	0.74099	GAG		0.527	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927		12	26	0	0	0	1	0	12	26				
PARK2	5071	broad.mit.edu	37	6	161771199	161771199	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr6:161771199C>G	ENST00000366898.1	-	12	1432	c.1330G>C	c.(1330-1332)Gag>Cag	p.E444Q	PARK2_ENST00000338468.3_Missense_Mutation_p.E253Q|PARK2_ENST00000366894.1_Missense_Mutation_p.E253Q|PARK2_ENST00000366896.1_Missense_Mutation_p.E295Q|PARK2_ENST00000366897.1_Missense_Mutation_p.E416Q	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	444					adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CAGCACCACTCGAGCCTGCAC	0.627																																						ENST00000366898.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39						c.(1330-1332)Gag>Cag		parkin RBR E3 ubiquitin protein ligase							39.0	35.0	36.0					6																	161771199		2203	4300	6503	SO:0001583	missense	5071				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:161771199C>G		CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"""Parkinson disease"""	8607	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase"""	602544	"""Parkinson disease (autosomal recessive, juvenile) 2, parkin"", ""parkinson protein 2, E3 ubiquitin protein ligase (parkin)"""			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.1330G>C	6.37:g.161771199C>G	ENSP00000355865:p.Glu444Gln					PARK2_ENST00000338468.3_Missense_Mutation_p.E253Q|PARK2_ENST00000366894.1_Missense_Mutation_p.E253Q|PARK2_ENST00000366896.1_Missense_Mutation_p.E295Q|PARK2_ENST00000366897.1_Missense_Mutation_p.E416Q	p.E444Q	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)	12	1432	-		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)	444					A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Missense_Mutation	SNP	ENST00000366898.1	37	c.1330G>C	CCDS5281.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.007040	0.74932	.	.	ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366896;ENST00000366894;ENST00000338468	D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61	5.27	4.39	0.52855	Zinc finger, C6HC-type (2);	0.062970	0.64402	D	0.000007	T	0.79811	0.4510	N	0.25890	0.77	0.80722	D	1	B;D;D	0.69078	0.006;0.995;0.997	B;D;D	0.69479	0.06;0.964;0.964	T	0.82456	-0.0448	10	0.51188	T	0.08	.	13.143	0.59446	0.0:0.839:0.161:0.0	.	295;416;444	Q5VVX3;Q5VVX4;O60260	.;.;PRKN2_HUMAN	Q	444;416;295;253;253	ENSP00000355865:E444Q;ENSP00000355863:E416Q;ENSP00000355862:E295Q;ENSP00000355860:E253Q;ENSP00000343589:E253Q	ENSP00000343589:E253Q	E	-	1	0	PARK2	161691189	1.000000	0.71417	0.771000	0.31576	0.998000	0.95712	2.949000	0.49074	1.201000	0.43203	0.563000	0.77884	GAG		0.627	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1			6	26	0	0	0	1	0	6	26				
ZNF473	25888	broad.mit.edu	37	19	50550296	50550296	+	Nonsense_Mutation	SNP	A	A	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr19:50550296A>T	ENST00000595661.1	+	6	3091	c.2596A>T	c.(2596-2598)Aag>Tag	p.K866*	ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000445728.3_Nonsense_Mutation_p.K854*|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000270617.3_Nonsense_Mutation_p.K866*|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000391821.2_Nonsense_Mutation_p.K866*			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	866					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		TGTACACAACAAGCAGCAATA	0.507											OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000595661.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						c.(2596-2598)Aag>Tag		zinc finger protein 473							31.0	33.0	33.0					19																	50550296		2138	4198	6336	SO:0001587	stop_gained	25888				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding	g.chr19:50550296A>T	AB032967	CCDS33077.1	19q13.33	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.2596A>T	19.37:g.50550296A>T	ENSP00000472808:p.Lys866*		OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	970	ZNF473_ENST00000445728.3_Nonsense_Mutation_p.K854*|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000270617.3_Nonsense_Mutation_p.K866*|ZNF473_ENST00000391821.2_Nonsense_Mutation_p.K866*	p.K866*			Q8WTR7	ZN473_HUMAN		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)	6	3091	+		all_neural(266;0.0459)|Ovarian(192;0.0728)	866					A8K8T7|Q9ULS9|Q9Y4Q7	Nonsense_Mutation	SNP	ENST00000595661.1	37	c.2596A>T	CCDS33077.1	.	.	.	.	.	.	.	.	.	.	A	38	7.066529	0.98040	.	.	ENSG00000142528	ENST00000270617;ENST00000391821;ENST00000445728	.	.	.	3.94	1.88	0.25563	.	1.753990	0.03424	N	0.206809	.	.	.	.	.	.	0.19575	N	0.999963	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	0.0897	2.541	0.04726	0.5811:0.0:0.2185:0.2004	.	.	.	.	X	866;866;854	.	ENSP00000270617:K866X	K	+	1	0	ZNF473	55242108	0.000000	0.05858	0.000000	0.03702	0.080000	0.17528	-0.074000	0.11450	0.349000	0.23975	0.533000	0.62120	AAG		0.507	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	XM_046390		9	32	0	0	0	1	0	9	32				
DPYD	1806	broad.mit.edu	37	1	98206024	98206024	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr1:98206024C>A	ENST00000370192.3	-	4	345	c.245G>T	c.(244-246)tGt>tTt	p.C82F	DPYD_ENST00000423006.2_Missense_Mutation_p.C45F|DPYD_ENST00000306031.5_Missense_Mutation_p.C82F	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	82	4Fe-4S ferredoxin-type 1. {ECO:0000255|PROSITE-ProRule:PRU00711}.				beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	GGCATCTGCACATTTCAGGCA	0.343																																						ENST00000370192.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83						c.(244-246)tGt>tTt		dihydropyrimidine dehydrogenase	Capecitabine(DB01101)|Enfuvirtide(DB00109)						141.0	143.0	142.0					1																	98206024		2203	4300	6503	SO:0001583	missense	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:98206024C>A	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.245G>T	1.37:g.98206024C>A	ENSP00000359211:p.Cys82Phe					DPYD_ENST00000306031.5_Missense_Mutation_p.C82F|DPYD_ENST00000423006.2_Missense_Mutation_p.C45F	p.C82F	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	4	345	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	82			4Fe-4S ferredoxin-type 1.		A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	c.245G>T	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.315124	0.81358	.	.	ENSG00000188641	ENST00000370192;ENST00000423006;ENST00000306031	D;D;D	0.97066	-4.23;-4.23;-4.23	5.33	5.33	0.75918	Fumarate reductase, C-terminal (1);Alpha-helical ferredoxin (1);4Fe-4S ferredoxin, iron-sulpur binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99133	0.9701	H	0.97158	3.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99250	1.0887	10	0.87932	D	0	-13.5519	19.3683	0.94473	0.0:1.0:0.0:0.0	.	82;82	E9PFN1;Q12882	.;DPYD_HUMAN	F	82;45;82	ENSP00000359211:C82F;ENSP00000398884:C45F;ENSP00000307107:C82F	ENSP00000307107:C82F	C	-	2	0	DPYD	97978612	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.172000	0.77604	2.648000	0.89879	0.585000	0.79938	TGT		0.343	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		13	55	1	0	9.31168e-06	1	1.03258e-05	13	55				
FAR2	55711	broad.mit.edu	37	12	29485551	29485551	+	Missense_Mutation	SNP	C	C	T	rs370381799		TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr12:29485551C>T	ENST00000536681.3	+	11	1522	c.1276C>T	c.(1276-1278)Cgc>Tgc	p.R426C	FAR2_ENST00000547116.1_Missense_Mutation_p.R329C|FAR2_ENST00000182377.4_Missense_Mutation_p.R426C	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	426					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)	p.R426C(1)		central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						CTTTGACGTGCGCCAGTTGAA	0.403																																						ENST00000182377.4																			1	Substitution - Missense(1)	p.R426C(1)	endometrium(1)	central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						c.(1276-1278)Cgc>Tgc		fatty acyl CoA reductase 2		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	94.0	91.0	92.0		1276	3.9	1.0	12		92	0,8600		0,0,4300	no	missense	FAR2	NM_018099.3	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	426/516	29485551	1,13005	2203	4300	6503	SO:0001583	missense	55711				ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	g.chr12:29485551C>T	AL136843	CCDS8717.1, CCDS61084.1	12p11.23	2013-07-30	2008-06-06	2008-06-06	ENSG00000064763	ENSG00000064763	1.2.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	25531	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 10E, member 2"""		"""male sterility domain containing 1"""	MLSTD1		15220348, 15220349, 19027726	Standard	NM_001271783		Approved	FLJ10462, SDR10E2	uc001ris.5	Q96K12	OTTHUMG00000169320	ENST00000536681.3:c.1276C>T	12.37:g.29485551C>T	ENSP00000443291:p.Arg426Cys					FAR2_ENST00000547116.1_Missense_Mutation_p.R329C|FAR2_ENST00000536681.2_Missense_Mutation_p.R426C	p.R426C	NM_018099.3	NP_060569.3	Q96K12	FACR2_HUMAN			11	1544	+			426					F8VV73|Q9H0D5|Q9NVW8	Missense_Mutation	SNP	ENST00000536681.3	37	c.1276C>T	CCDS8717.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.819897	0.71028	2.27E-4	0.0	ENSG00000064763	ENST00000536681;ENST00000182377;ENST00000547116;ENST00000551193	T;T;T	0.34275	1.8;1.8;1.37	4.81	3.91	0.45181	.	0.056353	0.64402	D	0.000001	T	0.64757	0.2627	M	0.91663	3.23	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.71140	-0.4679	10	0.72032	D	0.01	-10.2616	10.3303	0.43818	0.3579:0.642:0.0:0.0	.	426	Q96K12	FACR2_HUMAN	C	426;426;329;14	ENSP00000443291:R426C;ENSP00000182377:R426C;ENSP00000449349:R329C	ENSP00000182377:R426C	R	+	1	0	FAR2	29376818	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.824000	0.48088	1.348000	0.45733	0.655000	0.94253	CGC		0.403	FAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403479.2	NM_018099		9	39	0	0	0	1	0	9	39				
MRPS2	51116	broad.mit.edu	37	9	138395634	138395634	+	Silent	SNP	C	C	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr9:138395634C>T	ENST00000371785.1	+	5	755	c.546C>T	c.(544-546)ctC>ctT	p.L182L	C9orf116_ENST00000371791.1_5'Flank|MRPS2_ENST00000488610.1_3'UTR|MRPS2_ENST00000241600.5_Silent_p.L182L|RP11-426A6.5_ENST00000415062.1_RNA			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	182					translation (GO:0006412)	mitochondrion (GO:0005739)|small ribosomal subunit (GO:0015935)	structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		CGCGCCTCCTCTTTGGCCCCA	0.607																																						ENST00000371785.1																			0				large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6						c.(544-546)ctC>ctT		mitochondrial ribosomal protein S2							54.0	53.0	53.0					9																	138395634		2203	4300	6503	SO:0001819	synonymous_variant	51116				translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome	g.chr9:138395634C>T	AB051627	CCDS6990.1	9q34	2012-09-13			ENSG00000122140	ENSG00000122140		"""Mitochondrial ribosomal proteins / small subunits"""	14495	protein-coding gene	gene with protein product		611971					Standard	NM_016034		Approved	CGI-91	uc004cfv.5	Q9Y399	OTTHUMG00000020910	ENST00000371785.1:c.546C>T	9.37:g.138395634C>T						MRPS2_ENST00000241600.5_Silent_p.L182L|MRPS2_ENST00000488610.1_3'UTR|RP11-426A6.5_ENST00000415062.1_RNA	p.L182L			Q9Y399	RT02_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)	5	755	+			182					Q5T899|Q9BSQ4	Silent	SNP	ENST00000371785.1	37	c.546C>T	CCDS6990.1																																																																																				0.607	MRPS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054998.1			19	32	0	0	0	1	0	19	32				
FARSA	2193	broad.mit.edu	37	19	13035338	13035338	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr19:13035338T>C	ENST00000314606.4	-	11	1216	c.1198A>G	c.(1198-1200)Atc>Gtc	p.I400V	FARSA_ENST00000423140.2_Missense_Mutation_p.I369V|FARSA_ENST00000588025.1_Missense_Mutation_p.I440V	NM_004461.2	NP_004452.1	Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	400					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	AGTTGCGTGATACCTGCAGGA	0.612																																						ENST00000588025.1																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20						c.(1318-1320)Atc>Gtc		phenylalanyl-tRNA synthetase, alpha subunit	L-Phenylalanine(DB00120)						89.0	76.0	80.0					19																	13035338		2203	4300	6503	SO:0001583	missense	2193				phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding	g.chr19:13035338T>C	U07424	CCDS12287.1	19p13.2	2014-05-06	2007-02-23	2007-02-23	ENSG00000179115	ENSG00000179115	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	3592	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 1, alpha, cytoplasmic"""	602918	"""phenylalanine-tRNA synthetase-like"", ""phenylalanyl-tRNA synthetase-like, alpha subunit"""	FARSL, FARSLA		9177188	Standard	NM_004461		Approved	CML33	uc002mvs.2	Q9Y285	OTTHUMG00000180569	ENST00000314606.4:c.1198A>G	19.37:g.13035338T>C	ENSP00000320309:p.Ile400Val					FARSA_ENST00000423140.2_Missense_Mutation_p.I369V|FARSA_ENST00000314606.4_Missense_Mutation_p.I400V	p.I440V			Q9Y285	SYFA_HUMAN			12	1458	-			400					B4E363|Q9NSD8|Q9Y4W8	Missense_Mutation	SNP	ENST00000314606.4	37	c.1318A>G	CCDS12287.1	.	.	.	.	.	.	.	.	.	.	T	10.46	1.356460	0.24598	.	.	ENSG00000179115	ENST00000314606;ENST00000423140	T;T	0.63096	-0.02;-0.02	5.11	4.08	0.47627	Aminoacyl-tRNA synthetase, class II (1);Phenylalanyl-tRNA synthetase (1);	0.052418	0.85682	D	0.000000	T	0.60457	0.2270	L	0.61218	1.895	0.80722	D	1	P;B;B	0.36110	0.537;0.226;0.226	B;B;B	0.39904	0.313;0.205;0.205	T	0.56968	-0.7891	10	0.36615	T	0.2	-8.5148	11.1449	0.48424	0.0:0.0:0.1551:0.8449	.	369;400;400	B4E363;Q6IBR2;Q9Y285	.;.;SYFA_HUMAN	V	400;369	ENSP00000320309:I400V;ENSP00000396548:I369V	ENSP00000320309:I400V	I	-	1	0	FARSA	12896338	1.000000	0.71417	0.987000	0.45799	0.440000	0.31957	4.667000	0.61561	0.775000	0.33450	0.459000	0.35465	ATC		0.612	FARSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451935.1	NM_004461		23	86	0	0	0	1	0	23	86				
ZBTB20	26137	broad.mit.edu	37	3	114069659	114069659	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr3:114069659C>A	ENST00000474710.1	-	4	1444	c.1266G>T	c.(1264-1266)caG>caT	p.Q422H	ZBTB20_ENST00000462705.1_Missense_Mutation_p.Q349H|ZBTB20_ENST00000481632.1_Missense_Mutation_p.Q349H|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000393785.2_Missense_Mutation_p.Q349H|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000464560.1_Missense_Mutation_p.Q349H|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000471418.1_Missense_Mutation_p.Q349H|ZBTB20_ENST00000357258.3_Missense_Mutation_p.Q349H	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	422						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GCTGGTTTGTCTGCGGACCAC	0.617																																					NSCLC(69;748 1344 9802 11203 30933)	ENST00000462705.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(1045-1047)caG>caT		zinc finger and BTB domain containing 20							62.0	65.0	64.0					3																	114069659		2203	4300	6503	SO:0001583	missense	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114069659C>A	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.1266G>T	3.37:g.114069659C>A	ENSP00000419153:p.Gln422His					ZBTB20_ENST00000481632.1_Missense_Mutation_p.Q349H|ZBTB20_ENST00000471418.1_Missense_Mutation_p.Q349H|ZBTB20_ENST00000393785.2_Missense_Mutation_p.Q349H|ZBTB20_ENST00000357258.3_Missense_Mutation_p.Q349H|ZBTB20_ENST00000474710.1_Missense_Mutation_p.Q422H|ZBTB20_ENST00000464560.1_Missense_Mutation_p.Q349H	p.Q349H	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	11	1868	-			422					Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	ENST00000474710.1	37	c.1047G>T	CCDS54626.1	.	.	.	.	.	.	.	.	.	.	C	3.912	-0.019844	0.07634	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	T;T;T;T;T;T;T	0.10763	2.84;2.84;2.84;2.84;2.84;2.84;2.84	5.43	2.67	0.31697	.	0.328642	0.26234	N	0.025560	T	0.04227	0.0117	N	0.19112	0.55	0.25572	N	0.986885	P	0.36616	0.561	B	0.17979	0.02	T	0.41502	-0.9505	10	0.15066	T	0.55	.	6.661	0.23014	0.0:0.6434:0.0:0.3566	.	422	Q9HC78	ZBT20_HUMAN	H	349;349;349;349;422;349;349	ENSP00000420324:Q349H;ENSP00000377375:Q349H;ENSP00000418092:Q349H;ENSP00000419902:Q349H;ENSP00000419153:Q422H;ENSP00000349803:Q349H;ENSP00000417307:Q349H	ENSP00000349803:Q349H	Q	-	3	2	ZBTB20	115552349	1.000000	0.71417	0.446000	0.26920	0.509000	0.34042	2.158000	0.42329	0.678000	0.31325	0.557000	0.71058	CAG		0.617	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		18	73	1	0	6.94344e-10	1	8.1431e-10	18	73				
GRM1	2911	broad.mit.edu	37	6	146673616	146673616	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr6:146673616G>A	ENST00000282753.1	+	4	1652	c.1417G>A	c.(1417-1419)Gga>Aga	p.G473R	GRM1_ENST00000361719.2_Missense_Mutation_p.G473R|GRM1_ENST00000392299.2_Missense_Mutation_p.G473R|GRM1_ENST00000492807.2_Missense_Mutation_p.G473R|GRM1_ENST00000355289.4_Missense_Mutation_p.G473R|GRM1_ENST00000507907.1_Missense_Mutation_p.G473R			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	473					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		TGATGAGAAAGGAGACGCTCC	0.493																																						ENST00000392299.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(1417-1419)Gga>Aga		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						196.0	198.0	197.0					6																	146673616		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146673616G>A	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.1417G>A	6.37:g.146673616G>A	ENSP00000282753:p.Gly473Arg					GRM1_ENST00000355289.4_Missense_Mutation_p.G473R|GRM1_ENST00000507907.1_Missense_Mutation_p.G473R|GRM1_ENST00000492807.2_Missense_Mutation_p.G473R|GRM1_ENST00000361719.2_Missense_Mutation_p.G473R|GRM1_ENST00000282753.1_Missense_Mutation_p.G473R	p.G473R			Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	5	1887	+		Ovarian(120;0.0387)	473					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.1417G>A	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.722131	0.89298	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.91894	-2.93;-2.93;-2.93;-2.93;-2.93;-2.93	5.57	5.57	0.84162	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.97179	0.9078	M	0.93283	3.4	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.77557	0.976;0.988;0.99	D	0.97749	1.0213	10	0.87932	D	0	.	19.557	0.95354	0.0:0.0:1.0:0.0	.	473;473;473	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	R	473	ENSP00000354896:G473R;ENSP00000376119:G473R;ENSP00000424095:G473R;ENSP00000282753:G473R;ENSP00000347437:G473R;ENSP00000425599:G473R	ENSP00000282753:G473R	G	+	1	0	GRM1	146715309	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	9.476000	0.97823	2.630000	0.89119	0.655000	0.94253	GGA		0.493	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		27	141	0	0	0	1	0	27	141				
NRXN2	9379	broad.mit.edu	37	11	64418741	64418741	+	Silent	SNP	G	G	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr11:64418741G>T	ENST00000377551.1	-	13	3115	c.2904C>A	c.(2902-2904)atC>atA	p.I968I	AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000409571.1_Silent_p.I961I|NRXN2_ENST00000377559.3_Silent_p.I928I|NRXN2_ENST00000265459.6_Silent_p.I968I			Q9P2S2	NRX2A_HUMAN	neurexin 2	968	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TGACCAGCTCGATGACAATGA	0.577											OREG0004037|OREG0021057	type=REGULATORY REGION|Gene=AL137356|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000265459.6																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						c.(2902-2904)atC>atA		neurexin 2							63.0	53.0	56.0					11																	64418741		2201	4297	6498	SO:0001819	synonymous_variant	9379				cell adhesion	integral to membrane	metal ion binding	g.chr11:64418741G>T		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.2904C>A	11.37:g.64418741G>T			OREG0004037|OREG0021057	type=REGULATORY REGION|Gene=AL137356|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1076	NRXN2_ENST00000409571.1_Silent_p.I961I|NRXN2_ENST00000377551.1_Silent_p.I968I|NRXN2_ENST00000377559.3_Silent_p.I928I|AP001092.4_ENST00000433606.1_RNA	p.I968I	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN			14	3365	-			968			Laminin G-like 5.		A7E2C1|Q9Y2D6	Silent	SNP	ENST00000377551.1	37	c.2904C>A	CCDS8077.1																																																																																				0.577	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		10	44	1	0	0.000673444	1	0.000708223	10	44				
NPLOC4	55666	broad.mit.edu	37	17	79526391	79526391	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr17:79526391C>A	ENST00000331134.6	-	17	1936	c.1721G>T	c.(1720-1722)gGc>gTc	p.G574V	NPLOC4_ENST00000573876.1_Missense_Mutation_p.A39S|NPLOC4_ENST00000572760.1_Missense_Mutation_p.A39S	NM_017921.2	NP_060391.2	Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	574					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)	endoplasmic reticulum (GO:0005783)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GTGTGTGGAGCCCCCGACGGC	0.632																																						ENST00000331134.6																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11						c.(1720-1722)gGc>gTc		nuclear protein localization 4 homolog (S. cerevisiae)							21.0	28.0	26.0					17																	79526391		2086	4200	6286	SO:0001583	missense	55666				cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding	g.chr17:79526391C>A	AB040932	CCDS45812.1	17q25.3	2012-09-20			ENSG00000182446	ENSG00000182446			18261	protein-coding gene	gene with protein product		606590				11574150, 10811609	Standard	NM_017921		Approved	NPL4, FLJ20657, KIAA1499	uc002kas.3	Q8TAT6	OTTHUMG00000177990	ENST00000331134.6:c.1721G>T	17.37:g.79526391C>A	ENSP00000331487:p.Gly574Val					NPLOC4_ENST00000572760.1_Missense_Mutation_p.A39S|NPLOC4_ENST00000573876.1_Missense_Mutation_p.A39S	p.G574V	NM_017921.2	NP_060391.2	Q8TAT6	NPL4_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		17	1936	-	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		574					Q8N3J1|Q9H8V2|Q9H964|Q9NWR5|Q9P229	Missense_Mutation	SNP	ENST00000331134.6	37	c.1721G>T	CCDS45812.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.825840	0.50739	.	.	ENSG00000182446	ENST00000331134	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	T	0.54046	0.1834	L	0.40543	1.245	0.80722	D	1	B	0.24533	0.105	B	0.18263	0.021	T	0.49312	-0.8953	8	0.29301	T	0.29	.	17.1753	0.86840	0.0:1.0:0.0:0.0	.	574	Q8TAT6	NPL4_HUMAN	V	574	.	ENSP00000331487:G574V	G	-	2	0	NPLOC4	77136835	1.000000	0.71417	0.695000	0.30226	0.023000	0.10783	7.128000	0.77217	2.593000	0.87608	0.655000	0.94253	GGC		0.632	NPLOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440140.1			6	17	1	0	0.00116845	1	0.00122305	6	17				
C12orf4	57102	broad.mit.edu	37	12	4639058	4639058	+	Silent	SNP	C	C	T	rs144033494		TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr12:4639058C>T	ENST00000261250.3	-	4	570	c.483G>A	c.(481-483)gtG>gtA	p.V161V	C12orf4_ENST00000545746.1_Silent_p.V161V	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	161										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		TTTTCAGCTCCACATCTCTTT	0.333																																						ENST00000261250.3																			0				NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13						c.(481-483)gtG>gtA		chromosome 12 open reading frame 4		C		1,4405	2.1+/-5.4	0,1,2202	77.0	80.0	79.0		483	4.5	1.0	12	dbSNP_134	79	0,8600		0,0,4300	no	coding-synonymous	C12orf4	NM_020374.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		161/553	4639058	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57102							g.chr12:4639058C>T	AJ272205	CCDS8528.1	12p13.3	2012-08-10			ENSG00000047621	ENSG00000047621			1184	protein-coding gene	gene with protein product							Standard	NM_020374		Approved		uc001qms.3	Q9NQ89	OTTHUMG00000168258	ENST00000261250.3:c.483G>A	12.37:g.4639058C>T						C12orf4_ENST00000545746.1_Silent_p.V161V	p.V161V	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)	4	570	-			161					D3DUQ8|Q6MZH5	Silent	SNP	ENST00000261250.3	37	c.483G>A	CCDS8528.1																																																																																				0.333	C12orf4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398992.1	NM_020374		8	42	0	0	0	1	0	8	42				
MMP27	64066	broad.mit.edu	37	11	102567145	102567145	+	Missense_Mutation	SNP	C	C	T	rs185328145		TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr11:102567145C>T	ENST00000260229.4	-	6	950	c.859G>A	c.(859-861)Gct>Act	p.A287T		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	287					collagen catabolic process (GO:0030574)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	Marimastat(DB00786)	GTTGTGATAGCGTCAAAAGTC	0.408													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18674	0.0		0.0	False		,,,				2504	0.0					ENST00000260229.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(859-861)Gct>Act		matrix metallopeptidase 27		C	THR/ALA	0,4406		0,0,2203	168.0	173.0	171.0		859	6.1	1.0	11		171	1,8597	1.2+/-3.3	0,1,4298	no	missense	MMP27	NM_022122.2	58	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	287/514	102567145	1,13003	2203	4299	6502	SO:0001583	missense	64066				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102567145C>T	AF195192	CCDS8319.1	11q24	2008-07-18	2005-08-08		ENSG00000137675	ENSG00000137675			14250	protein-coding gene	gene with protein product	"""matrix metalloprotease 27"""		"""matrix metalloproteinase 27"""			10419448	Standard	NM_022122		Approved		uc001phd.1	Q9H306	OTTHUMG00000168099	ENST00000260229.4:c.859G>A	11.37:g.102567145C>T	ENSP00000260229:p.Ala287Thr						p.A287T	NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	6	950	-	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	287			Hemopexin-like 1.		Q6UWK6	Missense_Mutation	SNP	ENST00000260229.4	37	c.859G>A	CCDS8319.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	27.0	4.791869	0.90453	0.0	1.16E-4	ENSG00000137675	ENST00000260229	T	0.17528	2.27	6.08	6.08	0.98989	Hemopexin/matrixin (2);	0.000000	0.64402	D	0.000009	T	0.45458	0.1343	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.04664	-1.0935	10	0.33141	T	0.24	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	287	Q9H306	MMP27_HUMAN	T	287	ENSP00000260229:A287T	ENSP00000260229:A287T	A	-	1	0	MMP27	102072355	1.000000	0.71417	1.000000	0.80357	0.560000	0.35617	7.487000	0.81328	2.894000	0.99253	0.591000	0.81541	GCT		0.408	MMP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398128.1	NM_022122		7	53	0	0	0	1	0	7	53				
MAST2	23139	broad.mit.edu	37	1	46496942	46496942	+	Missense_Mutation	SNP	G	G	A	rs56114653	byFrequency	TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr1:46496942G>A	ENST00000361297.2	+	23	3255	c.2972G>A	c.(2971-2973)cGg>cAg	p.R991Q	MAST2_ENST00000372009.2_Missense_Mutation_p.R921Q	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GCTGTTGGCCGGAGCAGTGGT	0.622													G|||	2	0.000399361	0.0	0.0014	5008	,	,		19628	0.0		0.001	False		,,,				2504	0.0					ENST00000361297.2																			0				breast(1)|lung(3)|ovary(5)|stomach(2)	11						c.(2971-2973)cGg>cAg		microtubule associated serine/threonine kinase 2		G	GLN/ARG	0,4178		0,0,2089	34.0	40.0	38.0		2972	0.4	0.0	1	dbSNP_129	38	23,8409		0,23,4193	yes	missense	MAST2	NM_015112.2	43	0,23,6282	AA,AG,GG		0.2728,0.0,0.1824	benign	991/1799	46496942	23,12587	2089	4216	6305	SO:0001583	missense	23139				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	g.chr1:46496942G>A	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.2972G>A	1.37:g.46496942G>A	ENSP00000354671:p.Arg991Gln					MAST2_ENST00000372009.2_Missense_Mutation_p.R921Q|MAST2_ENST00000372008.1_Intron	p.R991Q	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN			23	3255	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)		991		R -> L (in dbSNP:rs56114653).				Missense_Mutation	SNP	ENST00000361297.2	37	c.2972G>A	CCDS41326.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.160725	0.00321	0.0	0.002728	ENSG00000086015	ENST00000361297;ENST00000372009	T;T	0.61859	0.08;0.07	4.46	0.42	0.16444	.	0.566138	0.16247	N	0.222878	T	0.20170	0.0485	N	0.00926	-1.1	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.26677	-1.0096	10	0.12766	T	0.61	-4.0047	5.4427	0.16517	0.4122:0.4766:0.1112:0.0	.	921;991	E7ERL6;Q6P0Q8	.;MAST2_HUMAN	Q	991;921	ENSP00000354671:R991Q;ENSP00000361079:R921Q	ENSP00000354671:R991Q	R	+	2	0	MAST2	46269529	0.000000	0.05858	0.034000	0.17996	0.002000	0.02628	-0.643000	0.05421	0.282000	0.22254	-0.471000	0.05019	CGG		0.622	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		3	40	0	0	0	1	0	3	40				
F5	2153	broad.mit.edu	37	1	169509963	169509963	+	Silent	SNP	T	T	C			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr1:169509963T>C	ENST00000367797.3	-	13	4566	c.4365A>G	c.(4363-4365)tcA>tcG	p.S1455S	F5_ENST00000367796.3_Silent_p.S1460S	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1455	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	CTGGAGGAGGTGATATCTGGC	0.473																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(4378-4380)tcA>tcG		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						82.0	86.0	85.0					1																	169509963		2203	4300	6503	SO:0001819	synonymous_variant	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169509963T>C	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.4365A>G	1.37:g.169509963T>C						F5_ENST00000367797.3_Silent_p.S1455S	p.S1460S			P12259	FA5_HUMAN			13	4581	-	all_hematologic(923;0.208)		1455			35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Silent	SNP	ENST00000367797.3	37	c.4380A>G	CCDS1281.1																																																																																				0.473	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		18	41	0	0	0	1	0	18	41				
PCLO	27445	broad.mit.edu	37	7	82545411	82545411	+	Missense_Mutation	SNP	C	C	A	rs369285880		TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr7:82545411C>A	ENST00000333891.9	-	7	12228	c.11891G>T	c.(11890-11892)cGg>cTg	p.R3964L	PCLO_ENST00000423517.2_Missense_Mutation_p.R3964L|PCLO_ENST00000437081.1_Missense_Mutation_p.R684L	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.R3964L(2)		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						TGTAGTTTGCCGTGGCTTCTG	0.433																																						ENST00000423517.2																			2	Substitution - Missense(2)	p.R3964L(2)	lung(2)	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.(11890-11892)cGg>cTg		piccolo presynaptic cytomatrix protein							354.0	336.0	342.0					7																	82545411		1930	4124	6054	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.chr7:82545411C>A	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.11891G>T	7.37:g.82545411C>A	ENSP00000334319:p.Arg3964Leu					PCLO_ENST00000437081.1_Missense_Mutation_p.R684L|PCLO_ENST00000333891.8_Missense_Mutation_p.R3964L	p.R3964L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			7	12228	-			3895						Missense_Mutation	SNP	ENST00000333891.9	37	c.11891G>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.496923	0.64186	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.37411	1.2;1.21	5.6	5.6	0.85130	.	.	.	.	.	T	0.62295	0.2416	M	0.73217	2.22	0.51482	D	0.999924	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76071	0.956;0.987;0.987	T	0.64356	-0.6427	9	0.87932	D	0	.	19.6287	0.95691	0.0:1.0:0.0:0.0	.	3895;3964;3964	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	L	3964;3964;684	ENSP00000334319:R3964L;ENSP00000388393:R3964L	ENSP00000334319:R3964L	R	-	2	0	PCLO	82383347	1.000000	0.71417	0.970000	0.41538	0.983000	0.72400	5.935000	0.70145	2.652000	0.90054	0.563000	0.77884	CGG		0.433	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		134	270	1	0	6.4993e-71	1	8.3191e-71	134	270				
RIMS2	9699	broad.mit.edu	37	8	104709402	104709402	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr8:104709402G>T	ENST00000406091.3	+	2	265	c.265G>T	c.(265-267)Gcg>Tcg	p.A89S		NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	120	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GAAGGGTGATGCGCCAACCTG	0.438										HNSCC(12;0.0054)																												ENST00000406091.3																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(265-267)Gcg>Tcg		regulating synaptic membrane exocytosis 2							151.0	152.0	152.0					8																	104709402		1994	4157	6151	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104709402G>T	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000406091.3:c.265G>T	8.37:g.104709402G>T	ENSP00000384892:p.Ala89Ser	HNSCC(12;0.0054)					p.A89S	NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		2	265	+			120			RabBD.		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000406091.3	37	c.265G>T	CCDS55269.1	.	.	.	.	.	.	.	.	.	.	G	31	5.085158	0.94100	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998	T;T	0.37584	1.19;1.19	5.72	5.72	0.89469	.	.	.	.	.	T	0.40040	0.1101	L	0.51914	1.62	0.80722	D	1	P	0.46784	0.884	B	0.43194	0.411	T	0.08889	-1.0700	9	0.32370	T	0.25	.	19.9379	0.97147	0.0:0.0:1.0:0.0	.	89	F8WD47	.	S	89;120;89;120	ENSP00000427018:A89S;ENSP00000384892:A89S	ENSP00000332184:A120S	A	+	1	0	RIMS2	104778578	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.865000	0.99609	2.710000	0.92621	0.556000	0.70494	GCG		0.438	RIMS2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001100117		16	80	1	0	8.60227e-14	1	1.05874e-13	16	80				
TNFRSF25	8718	broad.mit.edu	37	1	6526162	6526162	+	Silent	SNP	C	C	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr1:6526162C>T	ENST00000356876.3	-	1	93	c.6G>A	c.(4-6)gaG>gaA	p.E2E	PLEKHG5_ENST00000377748.1_3'UTR|TNFRSF25_ENST00000377782.3_Silent_p.E2E|TNFRSF25_ENST00000348333.3_Silent_p.E2E|TNFRSF25_ENST00000351748.3_Silent_p.E2E|PLEKHG5_ENST00000400913.1_3'UTR|TNFRSF25_ENST00000351959.5_Silent_p.E2E|TNFRSF25_ENST00000461703.2_5'UTR|PLEKHG5_ENST00000340850.5_3'UTR	NM_003790.2|NM_148967.1	NP_003781.1|NP_683868.1	Q93038	TNR25_HUMAN	tumor necrosis factor receptor superfamily, member 25	2					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1)	10	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		GCGGCCGCTGCTCCATAGCCC	0.746																																						ENST00000377782.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1)	10						c.(4-6)gaG>gaA		tumor necrosis factor receptor superfamily, member 25							5.0	6.0	6.0					1																	6526162		2092	4105	6197	SO:0001819	synonymous_variant	8718				apoptosis|induction of apoptosis by extracellular signals	cytosol|extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity	g.chr1:6526162C>T	U72763	CCDS71.1, CCDS72.1, CCDS73.1, CCDS74.1, CCDS75.1	1p36.2	2008-02-05	2002-12-20	2002-12-20	ENSG00000215788	ENSG00000215788		"""Tumor necrosis factor receptor superfamily"""	11910	protein-coding gene	gene with protein product		603366	"""tumor necrosis factor receptor superfamily, member 12 (translocating chain-association membrane protein)"""	TNFRSF12		9052839, 8934525	Standard	NM_003790		Approved	DR3, TRAMP, WSL-1, LARD, WSL-LR, DDR3, TR3, APO-3	uc001anh.3	Q93038	OTTHUMG00000000831	ENST00000356876.3:c.6G>A	1.37:g.6526162C>T						PLEKHG5_ENST00000377748.1_3'UTR|TNFRSF25_ENST00000461703.2_5'UTR|PLEKHG5_ENST00000400913.1_3'UTR|PLEKHG5_ENST00000340850.5_3'UTR|TNFRSF25_ENST00000348333.3_Silent_p.E2E|TNFRSF25_ENST00000356876.3_Silent_p.E2E|TNFRSF25_ENST00000351748.3_Silent_p.E2E|TNFRSF25_ENST00000351959.5_Silent_p.E2E	p.E2E	NM_148965.1	NP_683866.1	Q93038	TNR25_HUMAN		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)	1	73	-	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)	2					B1ALX2|B1ALX3|B7ZLL7|O00275|O00276|O00277|O00278|O00279|O00280|O14865|O14866|P78507|P78515|Q17RU4|Q92983|Q93036|Q93037|Q99722|Q99830|Q99831|Q9BY86|Q9UME0|Q9UME1|Q9UME5	Silent	SNP	ENST00000356876.3	37	c.6G>A	CCDS71.1																																																																																				0.746	TNFRSF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002259.1	NM_148965		6	10	0	0	0	1	0	6	10				
SDHAP1	255812	broad.mit.edu	37	3	195706702	195706702	+	RNA	SNP	G	G	A			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr3:195706702G>A	ENST00000427841.1	-	0	934					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		GTGCTGGTGTGGGCAGACGTG	0.597																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			255812							g.chr3:195706702G>A	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195706702G>A								NR_003264.2						0	934	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.597	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			6	22	0	0	0	1	0	6	22				
ATG101	60673	broad.mit.edu	37	12	52470570	52470570	+	Splice_Site	SNP	G	G	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr12:52470570G>T	ENST00000336854.4	+	4	731	c.253G>T	c.(253-255)Gat>Tat	p.D85Y	RP11-1100L3.7_ENST00000550301.1_RNA|OR7E47P_ENST00000546390.1_RNA	NM_001098673.1|NM_021934.4	NP_001092143.1|NP_068753.2	Q9BSB4	ATGA1_HUMAN		85					autophagic vacuole assembly (GO:0000045)	pre-autophagosomal structure (GO:0000407)	identical protein binding (GO:0042802)|protein complex binding (GO:0032403)			endometrium(1)|lung(2)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(357;0.0978)		TTCTTCCCAGGATGCACTGCG	0.567																																						ENST00000336854.4																			0				endometrium(1)|lung(2)|ovary(1)	4						c.e4-1		chromosome 12 open reading frame 44							79.0	70.0	73.0					12																	52470570		2203	4300	6503	SO:0001630	splice_region_variant	60673				autophagic vacuole assembly	pre-autophagosomal structure	identical protein binding|protein complex binding	g.chr12:52470570G>T																												ENST00000336854.4:c.253-1G>T	12.37:g.52470570G>T							p.D85_splice	NM_001098673.1|NM_021934.4	NP_001092143.1|NP_068753.2	Q9BSB4	ATGA1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0978)	4	731	+			85					Q9HAE2|Q9HBN1	Splice_Site	SNP	ENST00000336854.4	37	c.252_splice	CCDS8820.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.333957	0.60853	.	.	ENSG00000123395	ENST00000336854;ENST00000553049;ENST00000548915;ENST00000550984	.	.	.	4.0	3.11	0.35812	.	0.118600	0.53938	D	0.000043	T	0.58821	0.2149	L	0.43152	1.355	0.58432	D	0.999998	P	0.38110	0.618	P	0.49999	0.628	T	0.55566	-0.8121	8	.	.	.	-10.4801	11.6521	0.51295	0.0907:0.0:0.9093:0.0	.	85	Q9BSB4	ATGA1_HUMAN	Y	85	.	.	D	+	1	0	C12orf44	50756837	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	9.041000	0.93788	1.258000	0.44101	0.655000	0.94253	GAT		0.567	C12orf44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405063.1		Missense_Mutation	4	35	1	0	1.024e-07	1	1.17629e-07	4	35				
TUBGCP3	10426	broad.mit.edu	37	13	113174235	113174235	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr13:113174235C>T	ENST00000261965.3	-	15	2032	c.1846G>A	c.(1846-1848)Gag>Aag	p.E616K	TUBGCP3_ENST00000375669.3_Missense_Mutation_p.E616K|TUBGCP3_ENST00000462580.1_5'Flank	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	616					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|single fertilization (GO:0007338)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|polar microtubule (GO:0005827)|spindle (GO:0005819)	gamma-tubulin binding (GO:0043015)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					CGCAGGATCTCAGGACTGTCA	0.592																																						ENST00000261965.3																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25						c.(1846-1848)Gag>Aag		tubulin, gamma complex associated protein 3							111.0	111.0	111.0					13																	113174235		2203	4300	6503	SO:0001583	missense	10426				G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton	g.chr13:113174235C>T	AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216			18598	protein-coding gene	gene with protein product	"""spindle pole body protein"""					9566967, 9566969	Standard	XM_005268293		Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.1846G>A	13.37:g.113174235C>T	ENSP00000261965:p.Glu616Lys					TUBGCP3_ENST00000375669.3_Missense_Mutation_p.E616K	p.E616K	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN			15	2032	-	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)		616					O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Missense_Mutation	SNP	ENST00000261965.3	37	c.1846G>A	CCDS9525.1	.	.	.	.	.	.	.	.	.	.	C	34	5.410201	0.96072	.	.	ENSG00000126216	ENST00000261965;ENST00000375669	T;T	0.08458	3.09;3.09	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.26085	0.0636	M	0.70842	2.15	0.80722	D	1	D;D;D	0.71674	0.998;0.964;0.998	D;P;D	0.70487	0.969;0.84;0.969	T	0.08722	-1.0708	10	0.12430	T	0.62	-34.3423	18.4225	0.90595	0.0:1.0:0.0:0.0	.	606;616;616	B4DYP7;Q96CW5-2;Q96CW5	.;.;GCP3_HUMAN	K	616	ENSP00000261965:E616K;ENSP00000364821:E616K	ENSP00000261965:E616K	E	-	1	0	TUBGCP3	112222236	1.000000	0.71417	0.989000	0.46669	0.980000	0.70556	7.106000	0.77039	2.336000	0.79503	0.558000	0.71614	GAG		0.592	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045825.2	NM_006322		28	74	0	0	0	1	0	28	74				
ARMC4	55130	broad.mit.edu	37	10	28250550	28250550	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr10:28250550C>A	ENST00000305242.5	-	10	1425	c.1333G>T	c.(1333-1335)Gca>Tca	p.A445S	ARMC4_ENST00000480504.1_5'UTR|ARMC4_ENST00000545014.1_5'UTR|ARMC4_ENST00000239715.3_Missense_Mutation_p.A302S|ARMC4_ENST00000537576.1_Missense_Mutation_p.A137S	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	445					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GGCAAATCTGCACTTGCTTCC	0.388																																						ENST00000305242.5																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						c.(1333-1335)Gca>Tca		armadillo repeat containing 4							66.0	65.0	65.0					10																	28250550		2203	4297	6500	SO:0001583	missense	55130						binding	g.chr10:28250550C>A	AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.1333G>T	10.37:g.28250550C>A	ENSP00000306410:p.Ala445Ser					ARMC4_ENST00000239715.3_Missense_Mutation_p.A302S|ARMC4_ENST00000537576.1_Missense_Mutation_p.A137S|ARMC4_ENST00000480504.1_5'UTR|ARMC4_ENST00000545014.1_5'UTR	p.A445S	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN			10	1425	-			445					A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	ENST00000305242.5	37	c.1333G>T	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.491149	0.44249	.	.	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000537573;ENST00000434029;ENST00000239715	T;T;T;T	0.46819	1.1;1.53;0.86;0.88	5.4	4.27	0.50696	Armadillo-like helical (1);Armadillo-type fold (1);	0.334105	0.33419	N	0.004930	T	0.36468	0.0968	L	0.49350	1.555	0.35523	D	0.80161	B	0.17268	0.021	B	0.21708	0.036	T	0.39292	-0.9621	10	0.26408	T	0.33	-13.8082	4.8242	0.13408	0.0:0.7153:0.0:0.2847	.	445	Q5T2S8	ARMC4_HUMAN	S	137;445;137;339;302	ENSP00000443208:A137S;ENSP00000306410:A445S;ENSP00000398155:A339S;ENSP00000239715:A302S	ENSP00000239715:A302S	A	-	1	0	ARMC4	28290556	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.129000	0.57957	2.677000	0.91161	0.650000	0.86243	GCA		0.388	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076		4	37	1	0	0.184627	1	0.186291	4	37				
SDSL	113675	broad.mit.edu	37	12	113873329	113873329	+	Silent	SNP	C	C	T	rs367940348		TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr12:113873329C>T	ENST00000403593.4	+	6	901	c.639C>T	c.(637-639)gcC>gcT	p.A213A	SDSL_ENST00000345635.4_Silent_p.A213A			Q96GA7	SDSL_HUMAN	serine dehydratase-like	213					cellular amino acid metabolic process (GO:0006520)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	L-serine ammonia-lyase activity (GO:0003941)|L-threonine ammonia-lyase activity (GO:0004794)|pyridoxal phosphate binding (GO:0030170)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15						CCATCACAGCCGGCAAGCTGG	0.627																																						ENST00000403593.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15						c.(637-639)gcC>gcT		serine dehydratase-like	Pyridoxal Phosphate(DB00114)	C		0,4406		0,0,2203	82.0	79.0	80.0		639	-9.3	0.0	12		80	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SDSL	NM_138432.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		213/330	113873329	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	113675				cellular amino acid metabolic process		L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding	g.chr12:113873329C>T	AF134473	CCDS9170.1	12q24.21	2014-06-24				ENSG00000139410			30404	protein-coding gene	gene with protein product						16580895	Standard	NM_138432		Approved	SDS-RS1, cSDH	uc001tvi.3	Q96GA7		ENST00000403593.4:c.639C>T	12.37:g.113873329C>T						SDSL_ENST00000345635.4_Silent_p.A213A	p.A213A			Q96GA7	SDSL_HUMAN			6	901	+			213						Silent	SNP	ENST00000403593.4	37	c.639C>T	CCDS9170.1	.	.	.	.	.	.	.	.	.	.	C	0.025	-1.381392	0.01204	0.0	1.16E-4	ENSG00000139410	ENST00000546672	.	.	.	4.63	-9.26	0.00662	.	.	.	.	.	T	0.33876	0.0878	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53746	-0.8395	4	.	.	.	-15.2053	1.6413	0.02753	0.2049:0.1935:0.3599:0.2417	.	.	.	.	L	109	.	.	P	+	2	0	SDSL	112357712	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-6.291000	0.00072	-4.569000	0.00042	-1.474000	0.01003	CCG		0.627	SDSL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404782.1	NM_138432		22	94	0	0	0	1	0	22	94				
TRPC4	7223	broad.mit.edu	37	13	38320186	38320186	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr13:38320186G>A	ENST00000379705.3	-	3	1642	c.785C>T	c.(784-786)tCc>tTc	p.S262F	TRPC4_ENST00000447043.1_Missense_Mutation_p.S262F|TRPC4_ENST00000355779.2_Missense_Mutation_p.S262F|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000358477.2_Missense_Mutation_p.S262F|TRPC4_ENST00000379681.3_Missense_Mutation_p.S262F|TRPC4_ENST00000426868.2_Missense_Mutation_p.S262F|TRPC4_ENST00000379673.2_Missense_Mutation_p.S262F			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	262	Multimerization domain. {ECO:0000250}.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CAGTTCTCTGGAACTTCTCGT	0.403																																						ENST00000379705.3																			0				NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83						c.(784-786)tCc>tTc		transient receptor potential cation channel, subfamily C, member 4							173.0	162.0	165.0					13																	38320186		2203	4300	6503	SO:0001583	missense	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38320186G>A	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.785C>T	13.37:g.38320186G>A	ENSP00000369027:p.Ser262Phe					TRPC4_ENST00000379681.3_Missense_Mutation_p.S262F|TRPC4_ENST00000379673.2_Missense_Mutation_p.S262F|TRPC4_ENST00000355779.2_Missense_Mutation_p.S262F|TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000426868.2_Missense_Mutation_p.S262F|TRPC4_ENST00000447043.1_Missense_Mutation_p.S262F|TRPC4_ENST00000358477.2_Missense_Mutation_p.S262F	p.S262F			Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	3	1642	-			262			Multimerization domain (By similarity).		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	c.785C>T	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.544872	0.86022	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000426868;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	T;T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	6.07	6.07	0.98685	.	0.047437	0.85682	D	0.000000	D	0.85331	0.5672	M	0.92555	3.32	0.80722	D	1	D;D;P;D;D	0.89917	1.0;1.0;0.95;1.0;1.0	D;D;P;D;D	0.83275	0.996;0.993;0.776;0.996;0.993	D	0.87388	0.2361	10	0.87932	D	0	-20.7201	20.6593	0.99626	0.0:0.0:1.0:0.0	.	262;262;262;262;262	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-2;Q9UBN4	.;.;.;.;TRPC4_HUMAN	F	262	ENSP00000369027:S262F;ENSP00000369003:S262F;ENSP00000410133:S262F;ENSP00000348025:S262F;ENSP00000351264:S262F;ENSP00000368995:S262F;ENSP00000414316:S262F	ENSP00000348025:S262F	S	-	2	0	TRPC4	37218186	1.000000	0.71417	0.999000	0.59377	0.778000	0.44026	9.869000	0.99810	2.885000	0.99019	0.655000	0.94253	TCC		0.403	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		22	106	0	0	0	1	0	22	106				
NBEAL1	65065	broad.mit.edu	37	2	204078257	204078257	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr2:204078257A>T	ENST00000449802.1	+	54	8197	c.7864A>T	c.(7864-7866)Aac>Tac	p.N2622Y		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2622										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TCTCAGCATCAACCCATTAGC	0.328																																						ENST00000449802.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(7864-7866)Aac>Tac		neurobeachin-like 1							136.0	123.0	127.0					2																	204078257		1859	4099	5958	SO:0001583	missense	65065						binding	g.chr2:204078257A>T	AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.7864A>T	2.37:g.204078257A>T	ENSP00000399903:p.Asn2622Tyr						p.N2622Y	NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN			54	8197	+			2622					A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	37	c.7864A>T	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	A	12.55	1.971307	0.34754	.	.	ENSG00000144426	ENST00000449802;ENST00000340268;ENST00000414576	T;T	0.29142	5.02;1.58	5.61	3.04	0.35103	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.670507	0.16257	N	0.222411	T	0.19644	0.0472	N	0.22421	0.69	0.26258	N	0.978626	B;B;B	0.23249	0.0;0.082;0.04	B;B;B	0.26416	0.0;0.069;0.05	T	0.16305	-1.0407	10	0.51188	T	0.08	.	6.2134	0.20642	0.6977:0.0:0.088:0.2143	.	1332;2622;2611	D1MPS9;Q6ZS30;C9JGK5	.;NBEL1_HUMAN;.	Y	2622;2532;637	ENSP00000399903:N2622Y;ENSP00000388466:N637Y	ENSP00000344985:N2532Y	N	+	1	0	NBEAL1	203786502	0.952000	0.32445	0.149000	0.22428	0.971000	0.66376	1.889000	0.39718	0.907000	0.36646	0.528000	0.53228	AAC		0.328	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			30	37	0	0	0	1	0	30	37				
HUWE1	10075	broad.mit.edu	37	X	53581597	53581597	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chrX:53581597T>C	ENST00000342160.3	-	60	8948	c.8491A>G	c.(8491-8493)Ata>Gta	p.I2831V	HUWE1_ENST00000262854.6_Missense_Mutation_p.I2831V|MIRLET7F2_ENST00000385277.1_RNA|MIR98_ENST00000606724.1_RNA			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2831					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TACTCACTTATAGTGGGAGCT	0.448																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(8491-8493)Ata>Gta		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							69.0	62.0	65.0					X																	53581597		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53581597T>C	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.8491A>G	X.37:g.53581597T>C	ENSP00000340648:p.Ile2831Val					HUWE1_ENST00000262854.6_Missense_Mutation_p.I2831V	p.I2831V			Q7Z6Z7	HUWE1_HUMAN			60	8948	-			2831					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.8491A>G	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.28|14.28	2.488011|2.488011	0.44249|0.44249	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052	T;T|.	0.35973|.	1.28;1.28|.	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	0.297306|.	0.34338|.	N|.	0.004056|.	T|T	0.53077|0.53077	0.1774|0.1774	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	B;B|.	0.20671|.	0.028;0.047|.	B;B|.	0.21917|.	0.016;0.037|.	T|T	0.50709|0.50709	-0.8796|-0.8796	10|5	0.09590|.	T|.	0.72|.	.|.	14.0818|14.0818	0.64929|0.64929	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	2831;2831|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	V|C	2831|1864	ENSP00000340648:I2831V;ENSP00000262854:I2831V|.	ENSP00000262854:I2831V|.	I|Y	-|-	1|2	0|0	HUWE1|HUWE1	53598322|53598322	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.964000|0.964000	0.63967|0.63967	5.278000|5.278000	0.65592|0.65592	1.971000|1.971000	0.57363|0.57363	0.486000|0.486000	0.48141|0.48141	ATA|TAT		0.448	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		4	6	0	0	0	1	0	4	6				
TTC14	151613	broad.mit.edu	37	3	180320144	180320144	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr3:180320144G>T	ENST00000296015.4	+	1	227	c.95G>T	c.(94-96)cGt>cTt	p.R32L	TTC14_ENST00000412756.2_Missense_Mutation_p.R32L|RP11-496B10.3_ENST00000472596.1_lincRNA|TTC14_ENST00000382584.4_Missense_Mutation_p.R32L	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	32							RNA binding (GO:0003723)			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CCACACTTCCGTAGCCTCCTG	0.647																																						ENST00000412756.2																			0				endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45						c.(94-96)cGt>cTt		tetratricopeptide repeat domain 14							30.0	28.0	29.0					3																	180320144		2203	4300	6503	SO:0001583	missense	151613						RNA binding	g.chr3:180320144G>T	AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728		"""Tetratricopeptide (TTC) repeat domain containing"""	24697	protein-coding gene	gene with protein product						11853319	Standard	NM_001042601		Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	ENST00000296015.4:c.95G>T	3.37:g.180320144G>T	ENSP00000296015:p.Arg32Leu					TTC14_ENST00000296015.4_Missense_Mutation_p.R32L|TTC14_ENST00000382584.4_Missense_Mutation_p.R32L	p.R32L	NM_001042601.2	NP_001036066.1	Q96N46	TTC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		1	164	+	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		32					G5E9X0|Q6UWJ7|Q8TF22	Missense_Mutation	SNP	ENST00000296015.4	37	c.95G>T	CCDS3237.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.390797	0.82902	.	.	ENSG00000163728	ENST00000296015;ENST00000491380;ENST00000412756;ENST00000382584	T;T	0.49720	0.8;0.77	4.97	4.97	0.65823	.	0.179665	0.46442	D	0.000293	T	0.63486	0.2515	L	0.51422	1.61	0.47441	D	0.999428	P;B;D	0.76494	0.897;0.288;0.999	B;B;D	0.79784	0.439;0.103;0.993	T	0.65615	-0.6125	10	0.72032	D	0.01	-8.33	16.1916	0.81992	0.0:0.0:1.0:0.0	.	32;32;32	Q96N46-2;G5E9X0;Q96N46	.;.;TTC14_HUMAN	L	32	ENSP00000296015:R32L;ENSP00000372027:R32L	ENSP00000296015:R32L	R	+	2	0	TTC14	181802838	1.000000	0.71417	1.000000	0.80357	0.376000	0.30014	2.875000	0.48491	2.577000	0.86979	0.655000	0.94253	CGT		0.647	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349786.1	NM_133462		3	24	1	0	0.115264	1	0.11736	3	24				
IGKV1D-16	28901	broad.mit.edu	37	2	90139121	90139121	+	RNA	SNP	T	T	C			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr2:90139121T>C	ENST00000492446.1	+	0	44									immunoglobulin kappa variable 1D-16																		ATGAGGGTCCTCGCTCAGCTC	0.537																																						ENST00000492446.1																			0																				154.0	161.0	159.0					2																	90139121		1945	4140	6085			28901							g.chr2:90139121T>C	K01323		2p11.2	2012-02-08			ENSG00000241244	ENSG00000241244		"""Immunoglobulins / IGK locus"""	5748	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151569		2.37:g.90139121T>C														0	44	+									RNA	SNP	ENST00000492446.1	37																																																																																						0.537	IGKV1D-16-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323144.2	NG_000833		15	119	0	0	0	1	0	15	119				
ANKMY1	51281	broad.mit.edu	37	2	241439473	241439473	+	Missense_Mutation	SNP	C	C	A	rs141314665	byFrequency	TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr2:241439473C>A	ENST00000272972.3	-	14	2655	c.2441G>T	c.(2440-2442)cGg>cTg	p.R814L	ANKMY1_ENST00000391987.1_Missense_Mutation_p.R814L|ANKMY1_ENST00000373320.4_Missense_Mutation_p.R584L|ANKMY1_ENST00000361678.4_Missense_Mutation_p.R590L|ANKMY1_ENST00000406958.1_Missense_Mutation_p.R575L|ANKMY1_ENST00000373318.2_Missense_Mutation_p.R593L|ANKMY1_ENST00000401804.1_Missense_Mutation_p.R903L|ANKMY1_ENST00000403283.1_Missense_Mutation_p.R716L	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	814							metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		GAGCCGCTTCCGCGCCAGGAA	0.652																																						ENST00000391987.1																			0				central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30						c.(2440-2442)cGg>cTg		ankyrin repeat and MYND domain containing 1							42.0	38.0	40.0					2																	241439473		2203	4300	6503	SO:0001583	missense	51281						zinc ion binding	g.chr2:241439473C>A	AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.2441G>T	2.37:g.241439473C>A	ENSP00000272972:p.Arg814Leu					ANKMY1_ENST00000272972.3_Missense_Mutation_p.R814L|ANKMY1_ENST00000373318.2_Missense_Mutation_p.R593L|ANKMY1_ENST00000373320.4_Missense_Mutation_p.R584L|ANKMY1_ENST00000361678.4_Missense_Mutation_p.R590L|ANKMY1_ENST00000406958.1_Missense_Mutation_p.R575L|ANKMY1_ENST00000403283.1_Missense_Mutation_p.R716L|ANKMY1_ENST00000401804.1_Missense_Mutation_p.R903L	p.R814L			Q9P2S6	ANKY1_HUMAN		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)	15	2807	-		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	814					B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Missense_Mutation	SNP	ENST00000272972.3	37	c.2441G>T	CCDS2536.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	13.22|13.22	2.173591|2.173591	0.38413|0.38413	.|.	.|.	ENSG00000144504|ENSG00000144504	ENST00000407275|ENST00000373318;ENST00000406958;ENST00000272972;ENST00000361678;ENST00000391987;ENST00000373320;ENST00000403283;ENST00000401804	.|T;T;T;T;T;T;T;T	.|0.64803	.|1.69;3.12;-0.09;1.41;-0.09;3.8;1.7;-0.12	2.61|2.61	2.61|2.61	0.31194|0.31194	.|.	.|0.090415	.|0.45361	.|U	.|0.000376	.|T	.|0.75177	.|0.3814	M|M	0.77820|0.77820	2.39|2.39	0.80722|0.80722	D|D	1|1	.|P;D;D;D;B;P	.|0.89917	.|0.901;0.981;0.999;1.0;0.127;0.901	.|B;P;D;D;B;B	.|0.77004	.|0.311;0.822;0.989;0.96;0.073;0.311	.|T	.|0.77319	.|-0.2632	.|10	.|0.87932	.|D	.|0	-22.9437|-22.9437	8.8958|8.8958	0.35463|0.35463	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|814;584;593;575;590;814	.|Q4ZFV3;Q9P2S6-4;Q6GPI0;B5MBY4;Q9P2S6-2;Q9P2S6	.|.;.;.;.;.;ANKY1_HUMAN	X|L	17|593;575;814;590;814;584;716;903	.|ENSP00000362415:R593L;ENSP00000384555:R575L;ENSP00000272972:R814L;ENSP00000355097:R590L;ENSP00000375847:R814L;ENSP00000362417:R584L;ENSP00000383968:R716L;ENSP00000385887:R903L	.|ENSP00000272972:R814L	G|R	-|-	1|2	0|0	ANKMY1|ANKMY1	241088146|241088146	0.991000|0.991000	0.36638|0.36638	0.885000|0.885000	0.34714|0.34714	0.020000|0.020000	0.10135|0.10135	2.113000|2.113000	0.41902|0.41902	1.788000|1.788000	0.52465|0.52465	0.479000|0.479000	0.44913|0.44913	GGA|CGG		0.652	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257187.2	NM_017844		7	17	1	0	1	1	1	7	17				
POM121L12	285877	broad.mit.edu	37	7	53104138	53104138	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr7:53104138G>T	ENST00000408890.4	+	1	790	c.774G>T	c.(772-774)caG>caT	p.Q258H		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	258										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TGCTGGTCCAGCCCGCCCCAT	0.652																																						ENST00000408890.4																			0				endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						c.(772-774)caG>caT		POM121 transmembrane nucleoporin-like 12							50.0	57.0	55.0					7																	53104138		2017	4173	6190	SO:0001583	missense	285877							g.chr7:53104138G>T		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.774G>T	7.37:g.53104138G>T	ENSP00000386133:p.Gln258His						p.Q258H	NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN			1	790	+			258					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.774G>T	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	G	7.529	0.658262	0.14645	.	.	ENSG00000221900	ENST00000408890	T	0.24908	1.83	2.16	0.201	0.15186	.	.	.	.	.	T	0.12220	0.0297	N	0.08118	0	0.09310	N	1	B	0.16603	0.018	B	0.11329	0.006	T	0.27806	-1.0063	9	0.40728	T	0.16	.	7.9932	0.30252	0.0:0.4738:0.5262:0.0	.	258	Q8N7R1	P1L12_HUMAN	H	258	ENSP00000386133:Q258H	ENSP00000386133:Q258H	Q	+	3	2	POM121L12	53071632	0.000000	0.05858	0.001000	0.08648	0.024000	0.10985	-0.486000	0.06513	0.046000	0.15833	0.561000	0.74099	CAG		0.652	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		29	77	1	0	5.60225e-13	1	6.82013e-13	29	77				
CLNK	116449	broad.mit.edu	37	4	10533898	10533898	+	Silent	SNP	G	G	A			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr4:10533898G>A	ENST00000226951.6	-	12	851	c.612C>T	c.(610-612)agC>agT	p.S204S	CLNK_ENST00000442825.2_Silent_p.S162S|CLNK_ENST00000507719.1_Silent_p.S162S	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	204					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	intracellular (GO:0005622)	SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						AGTCCCTTAAGCTTATCTGAC	0.343																																					GBM(87;402 1286 6949 13902 35851)	ENST00000226951.6																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						c.(610-612)agC>agT		cytokine-dependent hematopoietic cell linker							96.0	84.0	88.0					4																	10533898		1842	4082	5924	SO:0001819	synonymous_variant	116449				immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity	g.chr4:10533898G>A	AB032369	CCDS47024.1	4p16.1	2013-02-14			ENSG00000109684	ENSG00000109684		"""SH2 domain containing"""	17438	protein-coding gene	gene with protein product	"""mast cell immunoreceptor signal transducer"""	611434				10562326, 10744659	Standard	NM_052964		Approved	MIST	uc003gmo.4	Q7Z7G1	OTTHUMG00000160062	ENST00000226951.6:c.612C>T	4.37:g.10533898G>A						CLNK_ENST00000442825.2_Silent_p.S162S|CLNK_ENST00000507719.1_Silent_p.S162S	p.S204S	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN			12	851	-			204					Q05C27|Q9P2U9	Silent	SNP	ENST00000226951.6	37	c.612C>T	CCDS47024.1																																																																																				0.343	CLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359047.1	NM_052964		5	10	0	0	0	1	0	5	10				
ZNF280D	54816	broad.mit.edu	37	15	56974508	56974508	+	Silent	SNP	C	C	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr15:56974508C>T	ENST00000267807.7	-	10	1164	c.948G>A	c.(946-948)aaG>aaA	p.K316K	ZNF280D_ENST00000559237.1_Silent_p.K303K|ZNF280D_ENST00000396245.1_Silent_p.K20K|ZNF280D_ENST00000559000.1_Silent_p.K303K	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D	316					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		TTGTGTGAGTCTTCTGTTCCT	0.284																																						ENST00000559237.1																			0				endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30						c.(907-909)aaG>aaA		zinc finger protein 280D							107.0	104.0	105.0					15																	56974508		2192	4288	6480	SO:0001819	synonymous_variant	54816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:56974508C>T	AB046804	CCDS32245.1, CCDS42041.1, CCDS58364.1	15q21.2	2008-05-02	2007-09-20	2007-09-20					25953	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 4 (Drosophila)"""	SUHW4		10997877	Standard	XM_005254481		Approved	FLJ20086, ZNF634	uc002adu.3	Q6N043		ENST00000267807.7:c.948G>A	15.37:g.56974508C>T						ZNF280D_ENST00000559000.1_Silent_p.K303K|ZNF280D_ENST00000396245.1_Silent_p.K20K|ZNF280D_ENST00000267807.7_Silent_p.K316K	p.K303K	NM_001002843.1	NP_001002843.1	Q6N043	Z280D_HUMAN		all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)	9	1592	-			316					A1L495|B2RMT6|Q6MZM6|Q6N085|Q6P2R6|Q7Z6J5|Q9H0U5|Q9HCI8|Q9NXS0	Silent	SNP	ENST00000267807.7	37	c.909G>A	CCDS32245.1																																																																																				0.284	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418891.2	XM_370867		3	30	0	0	0	1	0	3	30				
ALX3	257	broad.mit.edu	37	1	110607340	110607340	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr1:110607340G>T	ENST00000369792.4	-	2	550	c.463C>A	c.(463-465)Cgt>Agt	p.R155S	RP4-773N10.4_ENST00000554749.1_RNA	NM_006492.2	NP_006483.2	O95076	ALX3_HUMAN	ALX homeobox 3	155					embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|pattern specification process (GO:0007389)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)		GTGCGGTTACGACGCTTCTTG	0.597																																						ENST00000369792.4																			0				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						c.(463-465)Cgt>Agt		ALX homeobox 3							112.0	110.0	111.0					1																	110607340		2203	4300	6503	SO:0001583	missense	257					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:110607340G>T	AF008203	CCDS819.1	1p13.3	2014-02-04	2008-11-04		ENSG00000156150	ENSG00000156150		"""Homeoboxes / PRD class"""	449	protein-coding gene	gene with protein product		606014	"""aristaless-like homeobox 3"", ""frontonasal dysplasia"""	FND		15226305, 11807986, 19409524	Standard	NM_006492		Approved		uc001dzb.3	O95076	OTTHUMG00000011650	ENST00000369792.4:c.463C>A	1.37:g.110607340G>T	ENSP00000358807:p.Arg155Ser						p.R155S	NM_006492.2	NP_006483.2	O95076	ALX3_HUMAN		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)	2	550	-		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	155					O95075|Q5T8M4	Missense_Mutation	SNP	ENST00000369792.4	37	c.463C>A	CCDS819.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.718593	0.68844	.	.	ENSG00000156150	ENST00000369792	D	0.96940	-4.18	4.18	3.19	0.36642	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.64402	D	0.000002	D	0.98538	0.9512	H	0.98155	4.16	0.58432	D	0.999999	D	0.69078	0.997	D	0.81914	0.995	D	0.98306	1.0521	10	0.87932	D	0	.	9.888	0.41272	0.0:0.0:0.6863:0.3137	.	155	O95076	ALX3_HUMAN	S	155	ENSP00000358807:R155S	ENSP00000358807:R155S	R	-	1	0	ALX3	110408863	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.368000	0.52357	2.022000	0.59522	0.462000	0.41574	CGT		0.597	ALX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032232.2	NM_006492		19	67	1	0	1.56452e-12	1	1.87408e-12	19	67				
PPEF2	5470	broad.mit.edu	37	4	76805746	76805746	+	Splice_Site	SNP	C	C	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr4:76805746C>T	ENST00000286719.7	-	8	1103		c.e8+1			NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2						detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TTGACTTGTACCGTAAGTTCA	0.353																																					NSCLC(105;1359 1603 15961 44567 47947)	ENST00000286719.7																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						c.e8+1		protein phosphatase, EF-hand calcium binding domain 2							160.0	164.0	163.0					4																	76805746		2203	4300	6503	SO:0001630	splice_region_variant	5470				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	g.chr4:76805746C>T	AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9244	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, beta isozyme"""	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.746+1G>A	4.37:g.76805746C>T								NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		8	1103	-								O14831	Splice_Site	SNP	ENST00000286719.7	37		CCDS34013.1	.	.	.	.	.	.	.	.	.	.	C	18.84	3.709881	0.68730	.	.	ENSG00000156194	ENST00000286719;ENST00000337500	.	.	.	4.84	4.84	0.62591	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5116	0.75786	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PPEF2	77024770	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.000000	0.76290	2.512000	0.84698	0.655000	0.94253	.		0.353	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1	NM_006239	Intron	29	112	0	0	0	1	0	29	112				
ASPH	444	broad.mit.edu	37	8	62438566	62438566	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr8:62438566C>T	ENST00000379454.4	-	22	2057	c.1870G>A	c.(1870-1872)Gac>Aac	p.D624N	ASPH_ENST00000541428.1_Missense_Mutation_p.D595N	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	624					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	TGGCTCCAGTCCCCTTTTTCC	0.493																																						ENST00000541428.1																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1783-1785)Gac>Aac		aspartate beta-hydroxylase	L-Aspartic Acid(DB00128)|Succinic acid(DB00139)						140.0	124.0	130.0					8																	62438566		2203	4300	6503	SO:0001583	missense	444				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle	g.chr8:62438566C>T	AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"""junctin"", ""humbug"", ""junctate"""	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.1870G>A	8.37:g.62438566C>T	ENSP00000368767:p.Asp624Asn					ASPH_ENST00000379454.4_Missense_Mutation_p.D624N	p.D595N	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN			22	1943	-	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)	624					A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Missense_Mutation	SNP	ENST00000379454.4	37	c.1783G>A	CCDS34898.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.592066	0.86953	.	.	ENSG00000198363	ENST00000541428;ENST00000379454	T;T	0.41400	1.0;1.0	5.42	5.42	0.78866	.	0.055580	0.64402	D	0.000001	T	0.60104	0.2243	L	0.48642	1.525	0.80722	D	1	B;D	0.89917	0.283;1.0	B;D	0.74674	0.133;0.984	T	0.61337	-0.7083	10	0.66056	D	0.02	-29.1301	19.2165	0.93780	0.0:1.0:0.0:0.0	.	595;624	F5H667;Q12797	.;ASPH_HUMAN	N	595;624	ENSP00000437864:D595N;ENSP00000368767:D624N	ENSP00000368767:D624N	D	-	1	0	ASPH	62601120	1.000000	0.71417	0.953000	0.39169	0.770000	0.43624	7.247000	0.78257	2.524000	0.85096	0.650000	0.86243	GAC		0.493	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3	NM_004318		14	110	0	0	0	1	0	14	110				
NEB	4703	broad.mit.edu	37	2	152490306	152490306	+	Intron	SNP	C	C	A			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr2:152490306C>A	ENST00000172853.10	-	63	9037				NEB_ENST00000397345.3_Missense_Mutation_p.M3092I|NEB_ENST00000604864.1_Missense_Mutation_p.M3092I|NEB_ENST00000409198.1_Intron|NEB_ENST00000427231.2_Missense_Mutation_p.M3092I|NEB_ENST00000603639.1_Missense_Mutation_p.M3092I			P20929	NEBU_HUMAN	nebulin						muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCACCCCCAGCATGTCCACTG	0.532																																						ENST00000397345.3																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(9274-9276)atG>atT		nebulin							157.0	131.0	139.0					2																	152490306		692	1591	2283	SO:0001627	intron_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152490306C>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.8890-2973G>T	2.37:g.152490306C>A						NEB_ENST00000603639.1_Missense_Mutation_p.M3092I|NEB_ENST00000172853.10_Intron|NEB_ENST00000427231.2_Missense_Mutation_p.M3092I|NEB_ENST00000604864.1_Missense_Mutation_p.M3092I|NEB_ENST00000409198.1_Intron	p.M3092I	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	65	9478	-			3092					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.9276G>T		.	.	.	.	.	.	.	.	.	.	C	22.0	4.224415	0.79576	.	.	ENSG00000183091	ENST00000397345;ENST00000427231	T;T	0.39406	1.08;1.08	6.02	6.02	0.97574	.	.	.	.	.	T	0.69205	0.3085	M	0.84433	2.695	0.80722	D	1	.	.	.	.	.	.	T	0.69953	-0.5005	7	0.51188	T	0.08	.	20.547	0.99278	0.0:1.0:0.0:0.0	.	.	.	.	I	3092	ENSP00000380505:M3092I;ENSP00000416578:M3092I	ENSP00000380505:M3092I	M	-	3	0	NEB	152198552	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.723000	0.84788	2.850000	0.98022	0.650000	0.86243	ATG		0.532	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		104	177	1	0	7.43007e-68	1	9.45646e-68	104	177				
RP11-478B9.1	0	broad.mit.edu	37	12	45458436	45458436	+	RNA	SNP	T	T	G			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr12:45458436T>G	ENST00000548424.1	+	0	448																											GTCTCAATAGTGGGCACAGCT	0.527																																						ENST00000548424.1																			0																																																			0							g.chr12:45458436T>G																													12.37:g.45458436T>G														0	448	+									RNA	SNP	ENST00000548424.1	37																																																																																						0.527	RP11-478B9.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000404811.1			5	22	0	0	0	1	0	5	22				
KIF16B	55614	broad.mit.edu	37	20	16360435	16360435	+	Missense_Mutation	SNP	C	C	T	rs143610596		TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr20:16360435C>T	ENST00000354981.2	-	19	2369	c.2212G>A	c.(2212-2214)Gat>Aat	p.D738N	KIF16B_ENST00000355755.3_Missense_Mutation_p.D738N|KIF16B_ENST00000408042.1_Missense_Mutation_p.D738N|KIF16B_ENST00000378003.2_5'UTR	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	738	Glu-rich.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TACTGTTCATCTTTTTCCTTT	0.468																																						ENST00000354981.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(2212-2214)Gat>Aat		kinesin family member 16B							167.0	154.0	159.0					20																	16360435		2203	4300	6503	SO:0001583	missense	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16360435C>T	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.2212G>A	20.37:g.16360435C>T	ENSP00000347076:p.Asp738Asn					KIF16B_ENST00000408042.1_Missense_Mutation_p.D738N|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Missense_Mutation_p.D738N	p.D738N	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN			19	2369	-			738			Glu-rich.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	c.2212G>A	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	C	9.969	1.224975	0.22457	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000408042	T;T;T	0.17054	2.3;2.3;2.3	5.46	4.5	0.54988	.	0.266312	0.42053	N	0.000763	T	0.13543	0.0328	L	0.31294	0.92	0.80722	D	1	B;B;B;B	0.13594	0.003;0.008;0.003;0.002	B;B;B;B	0.15870	0.012;0.012;0.014;0.005	T	0.05920	-1.0856	10	0.22706	T	0.39	.	14.3256	0.66518	0.0:0.9263:0.0:0.0737	.	738;738;738;738	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	N	738	ENSP00000347076:D738N;ENSP00000347995:D738N;ENSP00000384164:D738N	ENSP00000347076:D738N	D	-	1	0	KIF16B	16308435	1.000000	0.71417	0.217000	0.23759	0.045000	0.14185	5.429000	0.66495	1.272000	0.44329	0.655000	0.94253	GAT		0.468	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		18	91	0	0	0	1	0	18	91				
DAB1	1600	broad.mit.edu	37	1	57480884	57480884	+	Silent	SNP	A	A	G			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr1:57480884A>G	ENST00000371231.1	-	13	1249	c.1215T>C	c.(1213-1215)gtT>gtC	p.V405V	DAB1_ENST00000371234.4_Silent_p.V372V|DAB1_ENST00000371236.2_Silent_p.V372V|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000420954.2_Silent_p.V370V|DAB1_ENST00000439789.2_Silent_p.V286V|DAB1_ENST00000414851.2_Silent_p.V354V			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	405					adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GCAAAGGCATAACAGTTTGTG	0.632																																						ENST00000371236.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						c.(1114-1116)gtT>gtC		Dab, reelin signal transducer, homolog 1 (Drosophila)							87.0	74.0	79.0					1																	57480884		2203	4300	6503	SO:0001819	synonymous_variant	1600				cell differentiation|nervous system development			g.chr1:57480884A>G	BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"""disabled (Drosophila) homolog 1"", ""disabled homolog 1 (Drosophila)"", ""Dab, reelin signal transducer, homolog 1 (Drosophila)"", ""Dab reelin signal transducer 1"""			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.1215T>C	1.37:g.57480884A>G						DAB1_ENST00000439789.2_Silent_p.V286V|DAB1_ENST00000420954.2_Silent_p.V370V|DAB1_ENST00000371234.4_Silent_p.V372V|DAB1_ENST00000371231.1_Silent_p.V405V|DAB1_ENST00000414851.2_Silent_p.V354V|DAB1_ENST00000485760.1_5'UTR	p.V372V			O75553	DAB1_HUMAN			12	1379	-			405					A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Silent	SNP	ENST00000371231.1	37	c.1116T>C																																																																																					0.632	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1	NM_021080		31	85	0	0	0	1	0	31	85				
MORC3	23515	broad.mit.edu	37	21	37713740	37713740	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr21:37713740G>A	ENST00000400485.1	+	6	728	c.652G>A	c.(652-654)Gat>Aat	p.D218N	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	218					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						GGATAAATATGATATCAGAAT	0.373																																						ENST00000400485.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						c.(652-654)Gat>Aat		MORC family CW-type zinc finger 3							82.0	86.0	85.0					21																	37713740		1825	4084	5909	SO:0001583	missense	23515				cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding	g.chr21:37713740G>A	AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"""zinc finger, CW-type with coiled-coil domain 3"", ""zinc finger, CW type with coiled-coil domain 3"""	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.652G>A	21.37:g.37713740G>A	ENSP00000383333:p.Asp218Asn					MORC3_ENST00000487909.1_3'UTR	p.D218N	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN			6	728	+			218					A8KA92|Q9UEZ2	Missense_Mutation	SNP	ENST00000400485.1	37	c.652G>A	CCDS42924.1	.	.	.	.	.	.	.	.	.	.	G	35	5.475390	0.96291	.	.	ENSG00000159256	ENST00000400485	T	0.74632	-0.86	5.5	5.5	0.81552	ATPase-like, ATP-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.89726	0.6798	M	0.91196	3.185	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91371	0.5119	10	0.87932	D	0	-19.1108	19.7641	0.96334	0.0:0.0:1.0:0.0	.	218	Q14149	MORC3_HUMAN	N	218	ENSP00000383333:D218N	ENSP00000383333:D218N	D	+	1	0	MORC3	36635610	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.419000	0.97397	2.733000	0.93635	0.650000	0.86243	GAT		0.373	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000194640.1	NM_015358		6	33	0	0	0	1	0	6	33				
AKAP1	8165	broad.mit.edu	37	17	55194253	55194253	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr17:55194253C>A	ENST00000337714.3	+	8	2698	c.2465C>A	c.(2464-2466)gCa>gAa	p.A822E	AKAP1_ENST00000572557.1_Missense_Mutation_p.A822E|AKAP1_ENST00000571629.1_Missense_Mutation_p.A822E|AKAP1_ENST00000539273.1_Missense_Mutation_p.A822E	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	822					blood coagulation (GO:0007596)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					TTTCAGGGAGCAGAAGTCCTT	0.512																																						ENST00000337714.3																			0				endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14						c.(2464-2466)gCa>gAa		A kinase (PRKA) anchor protein 1							208.0	186.0	193.0					17																	55194253		2203	4300	6503	SO:0001583	missense	8165				blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding	g.chr17:55194253C>A	X97335	CCDS11594.1	17q22	2013-01-23			ENSG00000121057	ENSG00000121057		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Tudor domain containing"""	367	protein-coding gene	gene with protein product	"""protein kinase anchoring protein 1"", ""dual specificity A-kinase-anchoring protein 1"", ""protein phosphatase 1, regulatory subunit 43"", ""tudor domain containing 17"""	602449		PRKA1		8769136, 7499250	Standard	NM_003488		Approved	AKAP121, AKAP149, SAKAP84, S-AKAP84, AKAP84, D-AKAP1, PPP1R43, TDRD17	uc002iux.3	Q92667	OTTHUMG00000140369	ENST00000337714.3:c.2465C>A	17.37:g.55194253C>A	ENSP00000337736:p.Ala822Glu					AKAP1_ENST00000539273.1_Missense_Mutation_p.A822E|AKAP1_ENST00000571629.1_Missense_Mutation_p.A822E|AKAP1_ENST00000572557.1_Missense_Mutation_p.A822E	p.A822E	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN			8	2698	+	Breast(9;5.46e-08)		822					A8K8Q1|D3DTZ0|Q13320|Q9BW14	Missense_Mutation	SNP	ENST00000337714.3	37	c.2465C>A	CCDS11594.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.664687	0.88251	.	.	ENSG00000121057	ENST00000337714;ENST00000427138;ENST00000539273	T;T	0.09723	2.95;2.95	5.27	5.27	0.74061	Maternal tudor protein (1);	0.104785	0.64402	D	0.000003	T	0.31199	0.0789	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.01232	-1.1411	10	0.66056	D	0.02	-10.0011	17.8777	0.88830	0.0:1.0:0.0:0.0	.	822	Q92667	AKAP1_HUMAN	E	822;864;822	ENSP00000337736:A822E;ENSP00000443139:A822E	ENSP00000337736:A822E	A	+	2	0	AKAP1	52549252	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.163000	0.77524	2.447000	0.82792	0.561000	0.74099	GCA		0.512	AKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277069.1			12	84	1	0	0.000151284	1	0.00016137	12	84				
ARHGAP32	9743	broad.mit.edu	37	11	128839322	128839322	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr11:128839322G>A	ENST00000310343.9	-	22	5743	c.5744C>T	c.(5743-5745)tCt>tTt	p.S1915F	ARHGAP32_ENST00000392657.3_Missense_Mutation_p.S1566F|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.S1566F|ARHGAP32_ENST00000524655.1_3'UTR	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1915	Interaction with FYN.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GACTGGCTCAGAAGTGTCTGG	0.493																																						ENST00000310343.9																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						c.(5743-5745)tCt>tTt		Rho GTPase activating protein 32							76.0	81.0	80.0					11																	128839322		2201	4297	6498	SO:0001583	missense	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128839322G>A	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.5744C>T	11.37:g.128839322G>A	ENSP00000310561:p.Ser1915Phe					ARHGAP32_ENST00000527272.1_Missense_Mutation_p.S1566F|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.S1566F|ARHGAP32_ENST00000524655.1_3'UTR	p.S1915F	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN			22	5743	-			1915			Interaction with FYN.		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	c.5744C>T	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	G	9.823	1.186379	0.21870	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000527272	T;T;T	0.09538	2.97;2.97;2.97	5.84	0.493	0.16878	.	0.704752	0.14484	N	0.316784	T	0.09113	0.0225	L	0.44542	1.39	0.09310	N	1	P	0.34780	0.468	B	0.32980	0.156	T	0.20306	-1.0279	10	0.72032	D	0.01	.	7.3858	0.26882	0.0624:0.3413:0.4787:0.1177	.	1915	A7KAX9	RHG32_HUMAN	F	1915;1566;1566	ENSP00000310561:S1915F;ENSP00000376425:S1566F;ENSP00000432862:S1566F	ENSP00000310561:S1915F	S	-	2	0	ARHGAP32	128344532	0.003000	0.15002	0.009000	0.14445	0.991000	0.79684	1.187000	0.32090	0.056000	0.16144	-0.176000	0.13171	TCT		0.493	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		20	80	0	0	0	1	0	20	80				
RASD2	23551	broad.mit.edu	37	22	35947786	35947786	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr22:35947786G>T	ENST00000216127.4	+	3	1150	c.508G>T	c.(508-510)Gag>Tag	p.E170*		NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN	RASD family, member 2	170					locomotory behavior (GO:0007626)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein sumoylation (GO:0033235)|regulation of cAMP-mediated signaling (GO:0043949)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission, dopaminergic (GO:0001963)	plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						CGCCTACTTCGAGGTGTCGGC	0.622																																						ENST00000216127.4																			0				endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						c.(508-510)Gag>Tag		RASD family, member 2							91.0	70.0	77.0					22																	35947786		2203	4300	6503	SO:0001587	stop_gained	23551				locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity	g.chr22:35947786G>T	AF279143	CCDS13916.1	22q13.1	2014-05-09			ENSG00000100302	ENSG00000100302			18229	protein-coding gene	gene with protein product	"""tumor endothelial marker 2"", ""Ras homolog enriched in striatum"""	612842				10947988, 10467249, 14724584	Standard	NM_014310		Approved	TEM2, Rhes, MGC:4834	uc003anx.3	Q96D21	OTTHUMG00000150607	ENST00000216127.4:c.508G>T	22.37:g.35947786G>T	ENSP00000216127:p.Glu170*						p.E170*	NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN			3	1150	+			170					O95520|Q5THY8	Nonsense_Mutation	SNP	ENST00000216127.4	37	c.508G>T	CCDS13916.1	.	.	.	.	.	.	.	.	.	.	G	44	10.752747	0.99461	.	.	ENSG00000100302	ENST00000216127	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.877	0.96880	0.0:0.0:1.0:0.0	.	.	.	.	X	170	.	ENSP00000216127:E170X	E	+	1	0	RASD2	34277732	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.746000	0.98859	2.709000	0.92574	0.561000	0.74099	GAG		0.622	RASD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319063.1	NM_014310		8	19	1	0	0.000157383	1	0.00016708	8	19				
CASP8	841	broad.mit.edu	37	2	202149973	202149973	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr2:202149973C>T	ENST00000432109.2	+	9	1426	c.1237C>T	c.(1237-1239)Cga>Tga	p.R413*	CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000358485.4_Nonsense_Mutation_p.R472*|CASP8_ENST00000323492.7_Nonsense_Mutation_p.R398*|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264274.9_Nonsense_Mutation_p.R329*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.R430*	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	413					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TGTTTCCTACCGAAACCCTGC	0.488										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	ENST00000358485.4																			0				breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						c.(1414-1416)Cga>Tga		caspase 8, apoptosis-related cysteine peptidase							75.0	68.0	71.0					2																	202149973		2203	4300	6503	SO:0001587	stop_gained	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	g.chr2:202149973C>T	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.1237C>T	2.37:g.202149973C>T	ENSP00000412523:p.Arg413*	HNSCC(4;0.00038)				CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264275.5_Nonsense_Mutation_p.R430*|CASP8_ENST00000264274.9_Nonsense_Mutation_p.R329*|CASP8_ENST00000432109.2_Nonsense_Mutation_p.R413*|CASP8_ENST00000323492.7_Nonsense_Mutation_p.R398*|CASP8_ENST00000392259.2_3'UTR	p.R472*	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN			8	1610	+			413					O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Nonsense_Mutation	SNP	ENST00000432109.2	37	c.1414C>T	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.503402	0.85176	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000432109;ENST00000264275;ENST00000358485;ENST00000323492;ENST00000444430	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.2071	0.65741	0.1588:0.8412:0.0:0.0	.	.	.	.	X	398;329;413;430;472;398;192	.	ENSP00000264274:R329X	R	+	1	2	CASP8	201858218	0.992000	0.36948	0.993000	0.49108	0.271000	0.26615	2.379000	0.44318	2.655000	0.90218	0.561000	0.74099	CGA		0.488	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		26	27	0	0	0	1	0	26	27				
CGNL1	84952	broad.mit.edu	37	15	57837890	57837890	+	Nonsense_Mutation	SNP	A	A	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr15:57837890A>T	ENST00000281282.5	+	17	3679	c.3601A>T	c.(3601-3603)Aag>Tag	p.K1201*		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	1201						myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GACTGATCAGAAGGACCAGGT	0.582																																						ENST00000281282.5																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60						c.(3601-3603)Aag>Tag		cingulin-like 1							54.0	42.0	46.0					15																	57837890		2192	4292	6484	SO:0001587	stop_gained	84952					myosin complex|tight junction	motor activity	g.chr15:57837890A>T	AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.3601A>T	15.37:g.57837890A>T	ENSP00000281282:p.Lys1201*						p.K1201*	NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN		all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)	17	3679	+			1201					Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Nonsense_Mutation	SNP	ENST00000281282.5	37	c.3601A>T	CCDS10161.1	.	.	.	.	.	.	.	.	.	.	A	42	9.192547	0.99096	.	.	ENSG00000128849	ENST00000281282	.	.	.	5.39	5.39	0.77823	.	0.404358	0.21031	N	0.081342	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-48.31	15.4428	0.75200	1.0:0.0:0.0:0.0	.	.	.	.	X	1201	.	ENSP00000281282:K1201X	K	+	1	0	CGNL1	55625182	1.000000	0.71417	1.000000	0.80357	0.555000	0.35460	7.300000	0.78841	2.044000	0.60594	0.460000	0.39030	AAG		0.582	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866		6	17	0	0	0	1	0	6	17				
ZNF684	127396	broad.mit.edu	37	1	41012488	41012488	+	Missense_Mutation	SNP	G	G	T	rs375475061		TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr1:41012488G>T	ENST00000372699.3	+	5	744	c.493G>T	c.(493-495)Ggg>Tgg	p.G165W	ZNF684_ENST00000493756.1_3'UTR	NM_152373.3	NP_689586.3	Q5T5D7	ZN684_HUMAN	zinc finger protein 684	165					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)			CAGTGAATGCGGGAAAGCCTT	0.318																																						ENST00000372699.3																			0				breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13						c.(493-495)Ggg>Tgg		zinc finger protein 684							38.0	41.0	40.0					1																	41012488		2201	4299	6500	SO:0001583	missense	127396				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:41012488G>T		CCDS454.1	1p34.2	2013-01-08			ENSG00000117010	ENSG00000117010		"""Zinc fingers, C2H2-type"", ""-"""	28418	protein-coding gene	gene with protein product	"""hypothetical protein MGC27466"""					12477932	Standard	NM_152373		Approved	MGC27466	uc001cft.2	Q5T5D7	OTTHUMG00000007359	ENST00000372699.3:c.493G>T	1.37:g.41012488G>T	ENSP00000361784:p.Gly165Trp					ZNF684_ENST00000493756.1_3'UTR	p.G165W	NM_152373.3	NP_689586.3	Q5T5D7	ZN684_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)		5	744	+	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	165					Q2NKY4	Missense_Mutation	SNP	ENST00000372699.3	37	c.493G>T	CCDS454.1	.	.	.	.	.	.	.	.	.	.	G	11.50	1.657780	0.29425	.	.	ENSG00000117010	ENST00000372699	T	0.08008	3.14	4.05	3.09	0.35607	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35970	N	0.002876	T	0.43100	0.1232	H	0.98333	4.205	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.61158	-0.7119	10	0.87932	D	0	.	11.3296	0.49468	0.0:0.1862:0.8137:0.0	.	165	Q5T5D7	ZN684_HUMAN	W	165	ENSP00000361784:G165W	ENSP00000361784:G165W	G	+	1	0	ZNF684	40785075	0.991000	0.36638	0.430000	0.26722	0.090000	0.18270	2.334000	0.43920	0.998000	0.38996	0.591000	0.81541	GGG		0.318	ZNF684-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019260.3	NM_152373		10	24	1	0	6.40141e-05	1	6.92713e-05	10	24				
SLC5A5	6528	broad.mit.edu	37	19	17988632	17988632	+	Missense_Mutation	SNP	C	C	A	rs121909176		TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr19:17988632C>A	ENST00000222248.3	+	6	1146	c.799C>A	c.(799-801)Cag>Aag	p.Q267K		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	267			Q -> E (in TDH1). {ECO:0000269|PubMed:9486973}.		cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|iodide transport (GO:0015705)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	iodide transmembrane transporter activity (GO:0015111)|sodium:iodide symporter activity (GO:0008507)			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GGCGCAGGTGCAGCGCTACGT	0.607																																					Melanoma(65;1008 1708 7910 46650)	ENST00000222248.3																			0				NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31	GRCh37	CM981846	SLC5A5	M	rs121909176	c.(799-801)Cag>Aag		solute carrier family 5 (sodium/iodide cotransporter), member 5							145.0	121.0	129.0					19																	17988632		2203	4300	6503	SO:0001583	missense	6528				cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity	g.chr19:17988632C>A		CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"""Solute carriers"""	11040	protein-coding gene	gene with protein product		601843	"""solute carrier family 5 (sodium iodide symporter), member 5"""			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.799C>A	19.37:g.17988632C>A	ENSP00000222248:p.Gln267Lys						p.Q267K	NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN			6	1146	+			267		Q -> E (in TDH1).			O43702|Q2M335|Q9NYB6	Missense_Mutation	SNP	ENST00000222248.3	37	c.799C>A	CCDS12368.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.011808	0.93346	.	.	ENSG00000105641	ENST00000222248	D	0.88586	-2.4	5.62	5.62	0.85841	.	0.127206	0.53938	D	0.000044	D	0.96944	0.9002	H	0.98542	4.26	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98296	1.0516	10	0.87932	D	0	.	17.2039	0.86913	0.0:1.0:0.0:0.0	.	267	Q92911	SC5A5_HUMAN	K	267	ENSP00000222248:Q267K	ENSP00000222248:Q267K	Q	+	1	0	SLC5A5	17849632	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	7.623000	0.83113	2.675000	0.91044	0.555000	0.69702	CAG		0.607	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466690.1			26	89	1	0	1.12875e-08	1	1.3033e-08	26	89				
COL8A1	1295	broad.mit.edu	37	3	99513727	99513727	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr3:99513727G>A	ENST00000261037.3	+	5	1362	c.982G>A	c.(982-984)Gga>Aga	p.G328R	COL8A1_ENST00000273342.4_Missense_Mutation_p.G328R	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	328	Triple-helical region (COL1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen type VIII trimer (GO:0005591)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						AGGCCAGCCAGGATTTCCAGG	0.622																																						ENST00000261037.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						c.(982-984)Gga>Aga		collagen, type VIII, alpha 1							27.0	32.0	30.0					3																	99513727		2203	4299	6502	SO:0001583	missense	1295				angiogenesis|cell adhesion	basement membrane|collagen type VIII		g.chr3:99513727G>A	AF170702	CCDS2934.1	3q11.1-q13.2	2013-01-16			ENSG00000144810	ENSG00000144810		"""Collagens"""	2215	protein-coding gene	gene with protein product		120251	"""chromosome 3 open reading frame 7"""	C3orf7		2029894	Standard	NM_001850		Approved	MGC9568	uc003dth.2	P27658	OTTHUMG00000148669	ENST00000261037.3:c.982G>A	3.37:g.99513727G>A	ENSP00000261037:p.Gly328Arg					COL8A1_ENST00000273342.4_Missense_Mutation_p.G328R	p.G328R	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN			5	1362	+			328			Triple-helical region (COL1).		D3DN42|Q53XI6|Q96D07	Missense_Mutation	SNP	ENST00000261037.3	37	c.982G>A	CCDS2934.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.465795	0.63513	.	.	ENSG00000144810	ENST00000261037;ENST00000273342	D;D	0.96802	-4.13;-4.13	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.98820	0.9602	H	0.96489	3.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.988	D	0.99406	1.0929	10	0.87932	D	0	.	18.1221	0.89574	0.0:0.0:1.0:0.0	.	329;328	E7EPK9;P27658	.;CO8A1_HUMAN	R	328	ENSP00000261037:G328R;ENSP00000273342:G328R	ENSP00000261037:G328R	G	+	1	0	COL8A1	100996417	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.864000	0.99589	2.871000	0.98454	0.655000	0.94253	GGA		0.622	COL8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309001.1	NM_001850		9	46	0	0	0	1	0	9	46				
SPATA9	83890	broad.mit.edu	37	5	94994441	94994441	+	Silent	SNP	C	C	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr5:94994441C>T	ENST00000274432.8	-	5	792	c.651G>A	c.(649-651)ccG>ccA	p.P217P	RFESD_ENST00000508206.1_Intron|SPATA9_ENST00000477047.2_Intron	NM_031952.3	NP_114158.2	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	217					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				large_intestine(3)|lung(4)	7		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		CTGGCTTCTCCGGCAATGACC	0.403																																						ENST00000274432.8																			0				large_intestine(3)|lung(4)	7						c.(649-651)ccG>ccA		spermatogenesis associated 9							97.0	95.0	95.0					5																	94994441		2203	4299	6502	SO:0001819	synonymous_variant	83890				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr5:94994441C>T	AK093225	CCDS4076.1	5q15	2008-02-05			ENSG00000145757	ENSG00000145757			22988	protein-coding gene	gene with protein product		608039				12493713	Standard	NM_031952		Approved	NYD-SP16, FLJ35906	uc003klj.1	Q9BWV2	OTTHUMG00000121169	ENST00000274432.8:c.651G>A	5.37:g.94994441C>T						SPATA9_ENST00000477047.2_Intron|RFESD_ENST00000508206.1_Intron	p.P217P	NM_031952.3	NP_114158.2	Q9BWV2	SPAT9_HUMAN		all cancers(79;8.91e-16)	5	792	-		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)	217					A8K8H3|Q4G122|Q86X33|Q8NA28	Silent	SNP	ENST00000274432.8	37	c.651G>A	CCDS4076.1																																																																																				0.403	SPATA9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304036.1	NM_031952		7	27	0	0	0	1	0	7	27				
PQLC1	80148	broad.mit.edu	37	18	77664035	77664035	+	Missense_Mutation	SNP	G	G	A	rs148418095	byFrequency	TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr18:77664035G>A	ENST00000397778.2	-	6	939	c.757C>T	c.(757-759)Cgc>Tgc	p.R253C	PQLC1_ENST00000357575.4_Missense_Mutation_p.R235C|PQLC1_ENST00000590895.1_5'UTR|PQLC1_ENST00000409073.1_Missense_Mutation_p.R170C|PQLC1_ENST00000590381.1_3'UTR	NM_025078.4	NP_079354.2	Q8N2U9	PQLC1_HUMAN	PQ loop repeat containing 1	253						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	9		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)		TGGGGGTGGCGGGCGAAGGCG	0.706													G|||	5	0.000998403	0.0023	0.0	5008	,	,		11753	0.001		0.0	False		,,,				2504	0.001					ENST00000397778.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	9						c.(757-759)Cgc>Tgc		PQ loop repeat containing 1		G	,CYS/ARG,CYS/ARG	13,4373		0,13,2180	17.0	20.0	19.0		,703,757	1.2	0.5	18	dbSNP_134	19	0,8568		0,0,4284	no	utr-3,missense,missense	PQLC1	NM_001146343.1,NM_001146345.1,NM_025078.4	,180,180	0,13,6464	AA,AG,GG		0.0,0.2964,0.1004	,possibly-damaging,possibly-damaging	,235/254,253/272	77664035	13,12941	2193	4284	6477	SO:0001583	missense	80148					integral to membrane		g.chr18:77664035G>A	AK123870	CCDS12020.1, CCDS54192.1, CCDS54193.1	18q23	2004-01-14			ENSG00000122490	ENSG00000122490			26188	protein-coding gene	gene with protein product						12477932	Standard	NM_025078		Approved	FLJ22378	uc002lnl.2	Q8N2U9	OTTHUMG00000132921	ENST00000397778.2:c.757C>T	18.37:g.77664035G>A	ENSP00000380880:p.Arg253Cys					PQLC1_ENST00000590381.1_3'UTR|PQLC1_ENST00000409073.1_Missense_Mutation_p.R170C|PQLC1_ENST00000357575.4_Missense_Mutation_p.R235C|PQLC1_ENST00000590895.1_5'UTR	p.R253C	NM_025078.4	NP_079354.2	Q8N2U9	PQLC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)	6	939	-		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)	253					B7Z7D9|G5E989|Q9H6D0	Missense_Mutation	SNP	ENST00000397778.2	37	c.757C>T	CCDS12020.1	.	.	.	.	.	.	.	.	.	.	G	8.962	0.970805	0.18659	0.002964	0.0	ENSG00000122490	ENST00000397778;ENST00000409073;ENST00000357575	.	.	.	4.53	1.19	0.21007	.	0.664833	0.15945	N	0.236989	T	0.45498	0.1345	L	0.50333	1.59	0.48087	D	0.999587	B;B	0.15930	0.005;0.015	B;B	0.15484	0.003;0.013	T	0.35151	-0.9800	9	0.46703	T	0.11	-16.5537	4.6728	0.12698	0.3931:0.1632:0.4437:0.0	.	253;235	Q8N2U9;G5E989	PQLC1_HUMAN;.	C	253;170;235	.	ENSP00000350188:R235C	R	-	1	0	PQLC1	75765023	0.992000	0.36948	0.531000	0.27976	0.212000	0.24457	0.533000	0.23082	0.369000	0.24510	-0.355000	0.07637	CGC		0.706	PQLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256434.1	NM_025078		6	23	0	0	0	1	0	6	23				
PCDHGA10	56106	broad.mit.edu	37	5	140793473	140793473	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr5:140793473C>T	ENST00000398610.2	+	1	731	c.731C>T	c.(730-732)cCg>cTg	p.P244L	PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	244	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACAACGCGCCGGTCTTCACC	0.582																																						ENST00000398610.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(730-732)cCg>cTg									44.0	47.0	46.0					5																	140793473		2052	4179	6231	SO:0001583	missense	56106							g.chr5:140793473C>T		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"""Cadherins / Protocadherins : Clustered"""	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.731C>T	5.37:g.140793473C>T	ENSP00000381611:p.Pro244Leu					PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron	p.P244L	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	731	+								Q9Y5E0	Missense_Mutation	SNP	ENST00000398610.2	37	c.731C>T	CCDS47292.1	.	.	.	.	.	.	.	.	.	.	c	24.2	4.506250	0.85282	.	.	ENSG00000253846	ENST00000398610	D	0.84800	-1.9	5.54	5.54	0.83059	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.96632	0.8901	H	0.99794	4.785	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.98600	1.0658	9	0.87932	D	0	.	19.4728	0.94969	0.0:1.0:0.0:0.0	.	244;244	Q9Y5H3-2;Q9Y5H3	.;PCDGA_HUMAN	L	244	ENSP00000381611:P244L	ENSP00000381611:P244L	P	+	2	0	PCDHGA10	140773657	1.000000	0.71417	0.138000	0.22173	0.994000	0.84299	7.818000	0.86416	2.619000	0.88677	0.557000	0.71058	CCG		0.582	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913		12	40	0	0	0	1	0	12	40				
POLR1A	25885	broad.mit.edu	37	2	86258661	86258661	+	Missense_Mutation	SNP	C	C	T	rs200735610		TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr2:86258661C>T	ENST00000263857.6	-	30	4748	c.4370G>A	c.(4369-4371)cGa>cAa	p.R1457Q	POLR1A_ENST00000409681.1_Missense_Mutation_p.R1457Q			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1457					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TTGGGTCTTTCGAGCACCTTC	0.592																																						ENST00000263857.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						c.(4369-4371)cGa>cAa		polymerase (RNA) I polypeptide A, 194kDa		C	GLN/ARG	0,4236		0,0,2118	151.0	160.0	157.0		4370	-6.9	0.0	2		157	4,8448		0,4,4222	yes	missense	POLR1A	NM_015425.3	43	0,4,6340	TT,TC,CC		0.0473,0.0,0.0315	benign	1457/1721	86258661	4,12684	2118	4226	6344	SO:0001583	missense	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86258661C>T	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.4370G>A	2.37:g.86258661C>T	ENSP00000263857:p.Arg1457Gln					POLR1A_ENST00000409681.1_Missense_Mutation_p.R1457Q	p.R1457Q			O95602	RPA1_HUMAN			30	4748	-			1457					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	37	c.4370G>A	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.166161	0.38217	0.0	4.73E-4	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.65364	-0.15;3.46	4.39	-6.86	0.01676	RNA polymerase Rpb1, domain 5 (1);	2.269540	0.01184	N	0.007161	T	0.35856	0.0946	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.15122	-1.0448	10	0.15499	T	0.54	0.1046	2.9348	0.05811	0.1422:0.4156:0.2859:0.1563	.	1457	O95602	RPA1_HUMAN	Q	1457	ENSP00000263857:R1457Q;ENSP00000386300:R1457Q	ENSP00000263857:R1457Q	R	-	2	0	POLR1A	86112172	0.537000	0.26386	0.000000	0.03702	0.003000	0.03518	0.185000	0.16958	-0.912000	0.03837	-0.474000	0.04947	CGA		0.592	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		22	78	0	0	0	1	0	22	78				
CPT1B	1375	broad.mit.edu	37	22	51011377	51011377	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr22:51011377A>G	ENST00000360719.2	-	11	1416	c.1279T>C	c.(1279-1281)Tcc>Ccc	p.S427P	CPT1B_ENST00000457250.1_Missense_Mutation_p.S393P|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000440709.1_Intron|CPT1B_ENST00000312108.7_Missense_Mutation_p.S427P|CPT1B_ENST00000405237.3_Missense_Mutation_p.S427P|CPT1B_ENST00000434492.2_Missense_Mutation_p.S224P|CPT1B_ENST00000395650.2_Missense_Mutation_p.S427P	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	427			S -> C (in dbSNP:rs8142477).		carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		GGGTCATAGGAGTAGGATTCC	0.587																																					Esophageal Squamous(170;988 1933 25577 30295 48163)	ENST00000360719.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(1279-1281)Tcc>Ccc		carnitine palmitoyltransferase 1B (muscle)							123.0	117.0	119.0					22																	51011377		2203	4300	6503	SO:0001583	missense	1375				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr22:51011377A>G	U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.1279T>C	22.37:g.51011377A>G	ENSP00000353945:p.Ser427Pro					CPT1B_ENST00000440709.1_Intron|CPT1B_ENST00000405237.3_Missense_Mutation_p.S427P|CPT1B_ENST00000312108.7_Missense_Mutation_p.S427P|CPT1B_ENST00000457250.1_Missense_Mutation_p.S393P|CPT1B_ENST00000395650.2_Missense_Mutation_p.S427P|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000434492.2_Missense_Mutation_p.S224P	p.S427P	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)	11	1416	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	427		S -> C (in dbSNP:rs8142477).			B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Missense_Mutation	SNP	ENST00000360719.2	37	c.1279T>C	CCDS14098.1	.	.	.	.	.	.	.	.	.	.	A	3.648	-0.072191	0.07228	.	.	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000457250;ENST00000434492;ENST00000395650	D;D;D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45;-2.45;-2.45	4.98	-9.96	0.00443	.	1.469010	0.04390	N	0.362247	T	0.75532	0.3862	N	0.12182	0.205	0.09310	N	1	B;B;B	0.30634	0.083;0.288;0.288	B;B;B	0.36092	0.154;0.217;0.217	T	0.69427	-0.5148	10	0.32370	T	0.25	0.3286	4.2194	0.10551	0.4102:0.3692:0.0819:0.1387	.	393;224;427	B7Z4U4;A2RRE8;Q92523	.;.;CPT1B_HUMAN	P	427;427;427;393;224;427	ENSP00000385486:S427P;ENSP00000312189:S427P;ENSP00000353945:S427P;ENSP00000409342:S393P;ENSP00000410966:S224P;ENSP00000379011:S427P	ENSP00000312189:S427P	S	-	1	0	CPT1B	49358243	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.565000	0.05929	-4.348000	0.00055	-2.496000	0.00192	TCC		0.587	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	NM_152246		27	127	0	0	0	1	0	27	127				
DNAH7	56171	broad.mit.edu	37	2	196726634	196726634	+	Silent	SNP	G	G	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr2:196726634G>T	ENST00000312428.6	-	42	7643	c.7543C>A	c.(7543-7545)Cga>Aga	p.R2515R		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2515	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCCAAGAATCGTGAGGCAACT	0.378																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(7543-7545)Cga>Aga		dynein, axonemal, heavy chain 7							102.0	95.0	97.0					2																	196726634		1880	4108	5988	SO:0001819	synonymous_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196726634G>T	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.7543C>A	2.37:g.196726634G>T							p.R2515R	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			42	7643	-			2515			AAA 4 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	37	c.7543C>A	CCDS42794.1																																																																																				0.378	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		16	24	1	0	1.33834e-09	1	1.56139e-09	16	24				
PIK3CG	5294	broad.mit.edu	37	7	106508689	106508689	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr7:106508689C>T	ENST00000359195.3	+	2	993	c.683C>T	c.(682-684)aCc>aTc	p.T228I	PIK3CG_ENST00000440650.2_Missense_Mutation_p.T228I|PIK3CG_ENST00000496166.1_Missense_Mutation_p.T228I	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	228	PI3K-RBD. {ECO:0000255|PROSITE- ProRule:PRU00879}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CACCGCAGCACCACCAGCCAG	0.557																																						ENST00000359195.3																			0				breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(682-684)aCc>aTc		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma							113.0	117.0	115.0					7																	106508689		2203	4300	6503	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106508689C>T		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.683C>T	7.37:g.106508689C>T	ENSP00000352121:p.Thr228Ile					PIK3CG_ENST00000496166.1_Missense_Mutation_p.T228I|PIK3CG_ENST00000440650.2_Missense_Mutation_p.T228I	p.T228I	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN			2	993	+			228					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.683C>T	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	C	11.51	1.659118	0.29515	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.70399	-0.48;-0.48;-0.48	5.5	4.59	0.56863	Phosphoinositide 3-kinase, ras-binding (2);	0.140824	0.64402	D	0.000005	T	0.64416	0.2596	L	0.60455	1.87	0.47037	D	0.999298	B	0.18013	0.025	B	0.21151	0.033	T	0.60616	-0.7228	10	0.35671	T	0.21	-20.4898	9.2106	0.37316	0.1466:0.7807:0.0:0.0727	.	228	P48736	PK3CG_HUMAN	I	228	ENSP00000392258:T228I;ENSP00000419260:T228I;ENSP00000352121:T228I	ENSP00000352121:T228I	T	+	2	0	PIK3CG	106295925	0.983000	0.35010	1.000000	0.80357	0.998000	0.95712	3.806000	0.55583	1.386000	0.46466	0.591000	0.81541	ACC		0.557	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			53	81	0	0	0	1	0	53	81				
HAS3	3038	broad.mit.edu	37	16	69143484	69143484	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr16:69143484T>A	ENST00000306560.1	+	2	342	c.186T>A	c.(184-186)ttT>ttA	p.F62L	HAS3_ENST00000219322.3_Missense_Mutation_p.F62L|HAS3_ENST00000569188.1_Missense_Mutation_p.F62L	NM_005329.2	NP_005320.2	O00219	HYAS3_HUMAN	hyaluronan synthase 3	62					carbohydrate metabolic process (GO:0005975)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of transcription, DNA-templated (GO:0045893)|small molecule metabolic process (GO:0044281)	hyaluranon cable (GO:0036117)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		AGAGCCTTTTTGCCTTCCTGG	0.647																																						ENST00000306560.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16						c.(184-186)ttT>ttA		hyaluronan synthase 3							81.0	71.0	75.0					16																	69143484		2198	4300	6498	SO:0001583	missense	3038				carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity	g.chr16:69143484T>A	BC021853	CCDS10870.1, CCDS10871.1	16q22.1	2013-02-22			ENSG00000103044	ENSG00000103044	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4820	protein-coding gene	gene with protein product		602428				9169154, 9083017	Standard	NM_005329		Approved		uc010cfh.3	O00219	OTTHUMG00000137562	ENST00000306560.1:c.186T>A	16.37:g.69143484T>A	ENSP00000304440:p.Phe62Leu					HAS3_ENST00000569188.1_Missense_Mutation_p.F62L|HAS3_ENST00000219322.3_Missense_Mutation_p.F62L	p.F62L	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0694)	2	342	+		Ovarian(137;0.101)	62					A8K5T5|Q8WTZ0|Q9NYP0	Missense_Mutation	SNP	ENST00000306560.1	37	c.186T>A	CCDS10871.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.866425	0.91511	.	.	ENSG00000103044	ENST00000219322;ENST00000306560	T;T	0.52983	0.64;0.77	5.6	0.941	0.19519	.	0.000000	0.85682	D	0.000000	T	0.63367	0.2505	M	0.77486	2.375	0.51482	D	0.999922	D;D	0.71674	0.998;0.998	D;D	0.80764	0.993;0.994	T	0.60860	-0.7179	10	0.49607	T	0.09	.	8.9824	0.35972	0.0:0.2821:0.0:0.7179	.	62;62	O00219;O00219-2	HAS3_HUMAN;.	L	62	ENSP00000219322:F62L;ENSP00000304440:F62L	ENSP00000219322:F62L	F	+	3	2	HAS3	67700985	0.601000	0.26907	1.000000	0.80357	0.993000	0.82548	-0.210000	0.09345	0.108000	0.17862	0.459000	0.35465	TTT		0.647	HAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268898.2	NM_138612		10	52	0	0	0	1	0	10	52				
UNC5D	137970	broad.mit.edu	37	8	35608173	35608173	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr8:35608173T>A	ENST00000404895.2	+	13	2337	c.2009T>A	c.(2008-2010)cTg>cAg	p.L670Q	UNC5D_ENST00000416672.1_Missense_Mutation_p.L675Q|UNC5D_ENST00000420357.1_Missense_Mutation_p.L603Q|UNC5D_ENST00000449677.1_Missense_Mutation_p.L246Q|UNC5D_ENST00000287272.2_Missense_Mutation_p.L601Q|UNC5D_ENST00000453357.2_Missense_Mutation_p.L665Q	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	670					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CATGTGCTCCTGGACAGCTTT	0.498																																						ENST00000287272.2																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112						c.(1801-1803)cTg>cAg		unc-5 homolog D (C. elegans)							250.0	210.0	223.0					8																	35608173		2203	4300	6503	SO:0001583	missense	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35608173T>A	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.2009T>A	8.37:g.35608173T>A	ENSP00000385143:p.Leu670Gln					UNC5D_ENST00000404895.2_Missense_Mutation_p.L670Q|UNC5D_ENST00000420357.1_Missense_Mutation_p.L603Q|UNC5D_ENST00000453357.2_Missense_Mutation_p.L665Q|UNC5D_ENST00000449677.1_Missense_Mutation_p.L246Q|UNC5D_ENST00000416672.1_Missense_Mutation_p.L675Q	p.L601Q			Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	12	1822	+			670			ZU5.		Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.1802T>A	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	T	22.5	4.295383	0.81025	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	T;T;T;T;T;T	0.58652	0.35;0.79;0.8;0.35;0.32;2.24	5.9	5.9	0.94986	.	0.064064	0.64402	D	0.000005	T	0.73575	0.3604	M	0.63843	1.955	0.58432	D	0.999994	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.72338	0.95;0.977;0.95	T	0.74802	-0.3541	10	0.54805	T	0.06	-12.6891	16.3317	0.83023	0.0:0.0:0.0:1.0	.	246;665;670	E9PDS8;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	Q	670;603;601;675;665;246	ENSP00000385143:L670Q;ENSP00000392739:L603Q;ENSP00000287272:L601Q;ENSP00000412652:L675Q;ENSP00000394303:L665Q;ENSP00000397211:L246Q	ENSP00000287272:L601Q	L	+	2	0	UNC5D	35727715	1.000000	0.71417	0.946000	0.38457	0.798000	0.45092	7.698000	0.84413	2.264000	0.75181	0.533000	0.62120	CTG		0.498	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			40	98	0	0	0	1	0	40	98				
C2orf71	388939	broad.mit.edu	37	2	29296997	29296997	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr2:29296997A>T	ENST00000331664.5	-	1	130	c.131T>A	c.(130-132)cTg>cAg	p.L44Q		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	44					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GTTTTTAACCAGCAAAGGGAT	0.522																																						ENST00000331664.5																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						c.(130-132)cTg>cAg		chromosome 2 open reading frame 71							98.0	94.0	95.0					2																	29296997		1973	4155	6128	SO:0001583	missense	388939				response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29296997A>T		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.131T>A	2.37:g.29296997A>T	ENSP00000332809:p.Leu44Gln						p.L44Q	NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN			1	130	-			44						Missense_Mutation	SNP	ENST00000331664.5	37	c.131T>A	CCDS42669.1	.	.	.	.	.	.	.	.	.	.	A	18.70	3.679780	0.68042	.	.	ENSG00000179270	ENST00000331664	T	0.42900	0.96	5.88	5.88	0.94601	.	0.000000	0.49916	D	0.000121	T	0.59905	0.2228	M	0.61703	1.905	0.34365	D	0.691421	D	0.89917	1.0	D	0.83275	0.996	T	0.72818	-0.4178	10	0.87932	D	0	-12.262	10.609	0.45410	0.9287:0.0:0.0713:0.0	.	44	A6NGG8	CB071_HUMAN	Q	44	ENSP00000332809:L44Q	ENSP00000332809:L44Q	L	-	2	0	C2orf71	29150501	0.997000	0.39634	0.847000	0.33407	0.973000	0.67179	4.963000	0.63694	2.257000	0.74773	0.459000	0.35465	CTG		0.522	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		11	40	0	0	0	1	0	11	40				
SETD5	55209	broad.mit.edu	37	3	9512475	9512475	+	Nonsense_Mutation	SNP	T	T	A			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr3:9512475T>A	ENST00000406341.1	+	18	3247	c.3057T>A	c.(3055-3057)tgT>tgA	p.C1019*	SETD5_ENST00000402466.1_Nonsense_Mutation_p.C921*|SETD5_ENST00000302463.6_Nonsense_Mutation_p.C921*|SETD5_ENST00000407969.1_Nonsense_Mutation_p.C1038*|SETD5_ENST00000402198.1_Nonsense_Mutation_p.C1019*			Q9C0A6	SETD5_HUMAN	SET domain containing 5	1019										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GGGGATATTGTTCCCCTGCAG	0.498																																						ENST00000402466.1																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2761-2763)tgT>tgA		SET domain containing 5							44.0	43.0	43.0					3																	9512475		1884	4113	5997	SO:0001587	stop_gained	55209							g.chr3:9512475T>A	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.3057T>A	3.37:g.9512475T>A	ENSP00000383939:p.Cys1019*					SETD5_ENST00000406341.1_Nonsense_Mutation_p.C1019*|SETD5_ENST00000302463.6_Nonsense_Mutation_p.C921*|SETD5_ENST00000402198.1_Nonsense_Mutation_p.C1019*|SETD5_ENST00000407969.1_Nonsense_Mutation_p.C1038*	p.C921*			Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	20	3531	+	Medulloblastoma(99;0.227)		1019					Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Nonsense_Mutation	SNP	ENST00000406341.1	37	c.2763T>A	CCDS46741.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	47|47	13.513105|13.513105	0.99746|0.99746	.|.	.|.	ENSG00000168137|ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463|ENST00000399686;ENST00000421188	.|.	.|.	.|.	5.51|5.51	3.14|3.14	0.36123|0.36123	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.49184	.|0.1542	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.55711	.|-0.8098	.|3	0.02654|.	T|.	1|.	-10.4738|-10.4738	8.0151|8.0151	0.30376|0.30376	0.0:0.3254:0.0:0.6746|0.0:0.3254:0.0:0.6746	.|.	.|.	.|.	.|.	X|I	1019;921;1019;1038;921|687;350	.|.	ENSP00000302028:C921X|.	C|F	+|+	3|1	2|0	SETD5|SETD5	9487475|9487475	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	0.518000|0.518000	0.22847|0.22847	0.399000|0.399000	0.25367|0.25367	0.482000|0.482000	0.46254|0.46254	TGT|TTC		0.498	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		5	20	0	0	0	1	0	5	20				
SI	6476	broad.mit.edu	37	3	164714334	164714334	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr3:164714334C>T	ENST00000264382.3	-	40	4743	c.4681G>A	c.(4681-4683)Gca>Aca	p.A1561T		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1561	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CTAGTATTTGCAATGTTGTGA	0.363										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(4681-4683)Gca>Aca		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						82.0	80.0	80.0					3																	164714334		2203	4295	6498	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164714334C>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.4681G>A	3.37:g.164714334C>T	ENSP00000264382:p.Ala1561Thr	HNSCC(35;0.089)					p.A1561T	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			40	4743	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1561			Sucrase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.4681G>A	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	4.160	0.028134	0.08054	.	.	ENSG00000090402	ENST00000264382	D	0.91237	-2.81	4.69	1.74	0.24563	Glycoside hydrolase, superfamily (1);	0.344912	0.28476	N	0.015217	T	0.78610	0.4310	L	0.28344	0.845	0.09310	N	1	B	0.17465	0.022	B	0.22152	0.038	T	0.58912	-0.7552	10	0.14656	T	0.56	.	1.22	0.01922	0.1489:0.3057:0.31:0.2354	.	1561	P14410	SUIS_HUMAN	T	1561	ENSP00000264382:A1561T	ENSP00000264382:A1561T	A	-	1	0	SI	166197028	0.004000	0.15560	0.050000	0.19076	0.672000	0.39443	0.647000	0.24812	0.249000	0.21456	0.585000	0.79938	GCA		0.363	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		9	25	0	0	0	1	0	9	25				
ZFYVE27	118813	broad.mit.edu	37	10	99512621	99512621	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr10:99512621A>T	ENST00000393677.4	+	9	1088	c.884A>T	c.(883-885)cAc>cTc	p.H295L	ZFYVE27_ENST00000337540.7_Intron|ZFYVE27_ENST00000356257.4_Missense_Mutation_p.H300L|ZFYVE27_ENST00000453958.2_Intron|ZFYVE27_ENST00000357540.4_Intron|ZFYVE27_ENST00000370613.3_Intron|ZFYVE27_ENST00000370610.3_Intron|ZFYVE27_ENST00000359980.3_Intron	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27	295					cell death (GO:0008219)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein localization to plasma membrane (GO:0072659)	axon (GO:0030424)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)	metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		CAGGAGACCCACTTGGTGGTG	0.617																																						ENST00000393677.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(883-885)cAc>cTc		zinc finger, FYVE domain containing 27							41.0	46.0	44.0					10																	99512621		2203	4300	6503	SO:0001583	missense	118813				cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane	axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane	metal ion binding|protein binding	g.chr10:99512621A>T	BC030621	CCDS31263.1, CCDS31264.1, CCDS53562.1, CCDS53563.1, CCDS53564.1, CCDS53565.1	10q24.2	2013-09-11			ENSG00000155256	ENSG00000155256		"""Zinc fingers, FYVE domain containing"""	26559	protein-coding gene	gene with protein product	"""protrudin"""	610243				14702039	Standard	NM_144588		Approved	FLJ32919, SPG33	uc001kol.2	Q5T4F4	OTTHUMG00000018867	ENST00000393677.4:c.884A>T	10.37:g.99512621A>T	ENSP00000377282:p.His295Leu					ZFYVE27_ENST00000357540.4_Intron|ZFYVE27_ENST00000356257.4_Missense_Mutation_p.H300L|ZFYVE27_ENST00000337540.7_Intron|ZFYVE27_ENST00000370613.3_Intron|ZFYVE27_ENST00000370610.3_Intron|ZFYVE27_ENST00000359980.3_Intron|ZFYVE27_ENST00000453958.2_Intron	p.H295L	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)	9	1088	+		Colorectal(252;0.0846)	295					B7Z3S0|B7Z404|B7Z626|G8JLC3|G8JLF0|J3KP98|Q5T4F1|Q5T4F2|Q5T4F3|Q8N1K0|Q8N6D6|Q8NCA0|Q8NDE4|Q96M08	Missense_Mutation	SNP	ENST00000393677.4	37	c.884A>T	CCDS31263.1	.	.	.	.	.	.	.	.	.	.	A	19.72	3.881065	0.72294	.	.	ENSG00000155256	ENST00000393677;ENST00000356257;ENST00000423811	T;T;T	0.74947	-0.89;-0.89;-0.89	5.45	5.45	0.79879	Zinc finger, FYVE/PHD-type (1);	0.138230	0.46145	D	0.000316	T	0.62060	0.2397	N	0.14661	0.345	0.80722	D	1	P;B	0.42518	0.782;0.421	P;B	0.44359	0.447;0.261	T	0.61123	-0.7126	10	0.22109	T	0.4	-23.7531	13.5606	0.61786	1.0:0.0:0.0:0.0	.	300;295	Q5T4F4-3;Q5T4F4	.;ZFY27_HUMAN	L	295;300;278	ENSP00000377282:H295L;ENSP00000348593:H300L;ENSP00000409594:H278L	ENSP00000348593:H300L	H	+	2	0	ZFYVE27	99502611	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.630000	0.54273	2.192000	0.70111	0.460000	0.39030	CAC		0.617	ZFYVE27-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049745.2	NM_144588		7	45	0	0	0	1	0	7	45				
FAT4	79633	broad.mit.edu	37	4	126239890	126239890	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr4:126239890A>T	ENST00000394329.3	+	1	2337	c.2324A>T	c.(2323-2325)aAc>aTc	p.N775I		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	775	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAATCTCCCAACCAGGCAATA	0.438																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(2323-2325)aAc>aTc		FAT atypical cadherin 4							128.0	117.0	120.0					4																	126239890		1949	4144	6093	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126239890A>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.2324A>T	4.37:g.126239890A>T	ENSP00000377862:p.Asn775Ile						p.N775I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			1	2337	+			775			Cadherin 7.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.2324A>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	A	6.153	0.396499	0.11638	.	.	ENSG00000196159	ENST00000394329	T	0.52983	0.64	5.48	-2.24	0.06909	Cadherin (4);Cadherin-like (1);	0.198998	0.23245	U	0.050302	T	0.31358	0.0794	L	0.33189	0.99	0.80722	D	1	B	0.29590	0.25	B	0.38458	0.274	T	0.04607	-1.0939	10	0.35671	T	0.21	.	2.3623	0.04310	0.5223:0.2351:0.1294:0.1132	.	775	Q6V0I7	FAT4_HUMAN	I	775	ENSP00000377862:N775I	ENSP00000377862:N775I	N	+	2	0	FAT4	126459340	0.996000	0.38824	0.993000	0.49108	0.129000	0.20672	2.126000	0.42026	-0.227000	0.09884	-0.313000	0.08912	AAC		0.438	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		14	54	0	0	0	1	0	14	54				
ZBED9	114821	broad.mit.edu	37	6	28539706	28539706	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr6:28539706T>A	ENST00000452236.2	-	4	4577	c.3960A>T	c.(3958-3960)caA>caT	p.Q1320H		NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ataagtgagcttgcttcttgc	0.308																																						ENST00000452236.2																			0				NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						c.(3958-3960)caA>caT		SCAN domain containing 3							103.0	100.0	101.0					6																	28539706		2203	4300	6503	SO:0001583	missense	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28539706T>A																												ENST00000452236.2:c.3960A>T	6.37:g.28539706T>A	ENSP00000395259:p.Gln1320His						p.Q1320H	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN			4	4577	-			1320						Missense_Mutation	SNP	ENST00000452236.2	37	c.3960A>T	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	T	13.88	2.369490	0.42003	.	.	ENSG00000232040	ENST00000452236	T	0.01918	4.56	2.73	1.56	0.23342	.	0.000000	0.56097	U	0.000029	T	0.03390	0.0098	M	0.74881	2.28	0.25176	N	0.99024	D	0.61697	0.99	D	0.70487	0.969	T	0.31024	-0.9958	10	0.59425	D	0.04	.	4.7225	0.12926	0.0:0.1495:0.0:0.8505	.	1320	Q6R2W3	SCND3_HUMAN	H	1320	ENSP00000395259:Q1320H	ENSP00000395259:Q1320H	Q	-	3	2	SCAND3	28647685	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.765000	0.26546	0.454000	0.26884	-0.274000	0.10170	CAA		0.308	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			11	20	0	0	0	1	0	11	20				
EEF2	1938	broad.mit.edu	37	19	3979344	3979344	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr19:3979344C>T	ENST00000309311.6	-	11	1784	c.1696G>A	c.(1696-1698)Gcc>Acc	p.A566T		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	566					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGATGCAGGCGTGGTCCTCC	0.632																																					Colon(165;1804 1908 4071 6587 18799)	ENST00000309311.6																			0				endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(1696-1698)Gcc>Acc		eukaryotic translation elongation factor 2							89.0	95.0	93.0					19																	3979344		2203	4300	6503	SO:0001583	missense	1938					cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr19:3979344C>T	Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"""polypeptidyl-tRNA translocase"""	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.1696G>A	19.37:g.3979344C>T	ENSP00000307940:p.Ala566Thr						p.A566T	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)	11	1784	-		Hepatocellular(1079;0.137)	566					B2RMP5|D6W618|Q58J86	Missense_Mutation	SNP	ENST00000309311.6	37	c.1696G>A	CCDS12117.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.558619	0.86231	.	.	ENSG00000167658	ENST00000543343;ENST00000309311	T	0.51325	0.71	5.45	5.45	0.79879	Elongation factor G/III/V (1);	0.000000	0.85682	D	0.000000	T	0.69575	0.3126	M	0.91972	3.26	0.80722	D	1	D	0.67145	0.996	P	0.52793	0.709	T	0.78336	-0.2243	10	0.72032	D	0.01	-51.2739	18.2479	0.89993	0.0:1.0:0.0:0.0	.	566	P13639	EF2_HUMAN	T	566	ENSP00000307940:A566T	ENSP00000307940:A566T	A	-	1	0	EEF2	3930344	1.000000	0.71417	0.994000	0.49952	0.873000	0.50193	7.731000	0.84895	2.555000	0.86185	0.561000	0.74099	GCC		0.632	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457615.2	NM_001961		24	116	0	0	0	1	0	24	116				
KDM7A	80853	broad.mit.edu	37	7	139796841	139796841	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr7:139796841T>C	ENST00000397560.2	-	16	2120	c.2023A>G	c.(2023-2025)Atc>Gtc	p.I675V	JHDM1D_ENST00000006967.5_Missense_Mutation_p.I675V|Y_RNA_ENST00000515919.1_RNA	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		675					histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|midbrain development (GO:0030901)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					GTGGTAAAGATACTTTTCTGA	0.328																																						ENST00000397560.2																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22						c.(2023-2025)Atc>Gtc									73.0	62.0	65.0					7																	139796841		1824	4093	5917	SO:0001583	missense	80853				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 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.chr7:139796841T>C																												ENST00000397560.2:c.2023A>G	7.37:g.139796841T>C	ENSP00000380692:p.Ile675Val					JHDM1D_ENST00000006967.5_Missense_Mutation_p.I675V	p.I675V	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN			16	2120	-	Melanoma(164;0.0142)		675					A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Missense_Mutation	SNP	ENST00000397560.2	37	c.2023A>G	CCDS43658.1	.	.	.	.	.	.	.	.	.	.	T	2.655	-0.280978	0.05642	.	.	ENSG00000006459	ENST00000397560;ENST00000006967	T;T	0.13420	2.82;2.59	5.54	-0.179	0.13299	.	566.482000	0.01507	U	0.017726	T	0.06962	0.0177	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34750	-0.9816	10	0.54805	T	0.06	-3.6664	0.3943	0.00415	0.2716:0.1425:0.2805:0.3054	.	675	Q6ZMT4	KDM7_HUMAN	V	675	ENSP00000380692:I675V;ENSP00000006967:I675V	ENSP00000006967:I675V	I	-	1	0	JHDM1D	139443310	0.984000	0.35163	0.930000	0.37139	0.464000	0.32679	0.235000	0.17948	0.331000	0.23511	0.460000	0.39030	ATC		0.328	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348460.1			8	10	0	0	0	1	0	8	10				
MAGI1	9223	broad.mit.edu	37	3	65438991	65438991	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr3:65438991C>A	ENST00000497477.2	-	6	983	c.984G>T	c.(982-984)tgG>tgT	p.W328C	MAGI1_ENST00000330909.8_Missense_Mutation_p.W328C|MAGI1_ENST00000402939.2_Missense_Mutation_p.W328C|MAGI1_ENST00000483466.1_Missense_Mutation_p.W328C|MAGI1_ENST00000470990.1_5'UTR			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	328	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GAGGGTCTAACCAAGATGTTG	0.423																																						ENST00000330909.8																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.(982-984)tgG>tgT		membrane associated guanylate kinase, WW and PDZ domain containing 1							122.0	117.0	119.0					3																	65438991		2203	4300	6503	SO:0001583	missense	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65438991C>A	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.984G>T	3.37:g.65438991C>A	ENSP00000424369:p.Trp328Cys					MAGI1_ENST00000402939.2_Missense_Mutation_p.W328C|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000483466.1_Missense_Mutation_p.W328C|MAGI1_ENST00000497477.2_Missense_Mutation_p.W328C	p.W328C	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	6	983	-		Lung NSC(201;0.0016)	328			WW 1.		A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	ENST00000497477.2	37	c.984G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.7|20.7	4.030935|4.030935	0.75504|0.75504	.|.	.|.	ENSG00000151276|ENSG00000151276	ENST00000460329|ENST00000402939;ENST00000330909;ENST00000422949;ENST00000463103;ENST00000483466;ENST00000497477;ENST00000472257;ENST00000479287	.|D;D;D;D;D;D;D	.|0.97731	.|-4.51;-4.51;-4.51;-4.51;-4.51;-4.51;-4.51	5.78|5.78	4.89|4.89	0.63831|0.63831	.|WW/Rsp5/WWP (6);	.|0.111857	.|0.64402	.|D	.|0.000003	D|D	0.99227|0.99227	0.9731|0.9731	H|H	0.97265|0.97265	3.97|3.97	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;0.994;1.0;1.0;1.0	.|D;D;D;D;D;D	.|0.97110	.|0.997;0.999;0.965;0.996;1.0;0.999	D|D	0.98713|0.98713	1.0705|1.0705	5|10	.|0.87932	.|D	.|0	-15.5587|-15.5587	16.0607|16.0607	0.80836|0.80836	0.1355:0.8645:0.0:0.0|0.1355:0.8645:0.0:0.0	.|.	.|328;328;328;328;328;328	.|Q96QZ7-6;Q96QZ7;Q96QZ7-4;Q96QZ7-3;Q96QZ7-2;Q96QZ7-5	.|.;MAGI1_HUMAN;.;.;.;.	V|C	209|328;328;224;203;328;328;114;90	.|ENSP00000385450:W328C;ENSP00000331157:W328C;ENSP00000418177:W203C;ENSP00000420323:W328C;ENSP00000424369:W328C;ENSP00000420796:W114C;ENSP00000418044:W90C	.|ENSP00000331157:W328C	G|W	-|-	2|3	0|0	MAGI1|MAGI1	65414031|65414031	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.332000|7.332000	0.79203|0.79203	1.396000|1.396000	0.46663|0.46663	0.655000|0.655000	0.94253|0.94253	GGT|TGG		0.423	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742		12	59	1	0	6.40141e-05	1	6.92713e-05	12	59				
HCN1	348980	broad.mit.edu	37	5	45262714	45262714	+	Missense_Mutation	SNP	C	C	G	rs143224211		TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr5:45262714C>G	ENST00000303230.4	-	8	2039	c.1982G>C	c.(1981-1983)aGg>aCg	p.R661T		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	661					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AGATTGTGTCCTCATGCGGGA	0.572																																						ENST00000303230.4																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(1981-1983)aGg>aCg		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							168.0	162.0	164.0					5																	45262714		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262714C>G	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1982G>C	5.37:g.45262714C>G	ENSP00000307342:p.Arg661Thr						p.R661T	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			8	2039	-			661						Missense_Mutation	SNP	ENST00000303230.4	37	c.1982G>C	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	2.257	-0.370289	0.05069	.	.	ENSG00000164588	ENST00000303230	D	0.97378	-4.36	5.52	4.65	0.58169	.	0.000000	0.64402	D	0.000001	D	0.94016	0.8083	L	0.44542	1.39	0.42602	D	0.993289	P	0.34462	0.454	B	0.29598	0.104	D	0.92704	0.6177	10	0.34782	T	0.22	.	14.3639	0.66792	0.0:0.9291:0.0:0.0709	.	661	O60741	HCN1_HUMAN	T	661	ENSP00000307342:R661T	ENSP00000307342:R661T	R	-	2	0	HCN1	45298471	1.000000	0.71417	0.990000	0.47175	0.313000	0.28021	2.510000	0.45468	1.339000	0.45563	-0.140000	0.14226	AGG		0.572	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		13	43	0	0	0	1	0	13	43				
MERTK	10461	broad.mit.edu	37	2	112786351	112786351	+	Silent	SNP	C	C	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr2:112786351C>T	ENST00000295408.4	+	19	3167	c.2910C>T	c.(2908-2910)tcC>tcT	p.S970S	MERTK_ENST00000421804.2_Silent_p.S970S|MERTK_ENST00000409780.1_Silent_p.S794S			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	970					apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TCTCCTGGTCCCATTCGAGCA	0.527																																						ENST00000295408.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						c.(2908-2910)tcC>tcT		c-mer proto-oncogene tyrosine kinase							49.0	45.0	47.0					2																	112786351		2203	4300	6503	SO:0001819	synonymous_variant	10461				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:112786351C>T	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7027	protein-coding gene	gene with protein product		604705	"""c-mer proto-oncogene tyrosine kinase"""			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.2910C>T	2.37:g.112786351C>T						MERTK_ENST00000409780.1_Silent_p.S794S|MERTK_ENST00000421804.2_Silent_p.S970S	p.S970S			Q12866	MERTK_HUMAN			19	3167	+			970					Q9HBB4	Silent	SNP	ENST00000295408.4	37	c.2910C>T	CCDS2094.1																																																																																				0.527	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2			19	26	0	0	0	1	0	19	26				
CTTNBP2NL	55917	broad.mit.edu	37	1	112999853	112999853	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr1:112999853C>T	ENST00000271277.6	+	6	1964	c.1739C>T	c.(1738-1740)cCa>cTa	p.P580L	CTTNBP2NL_ENST00000607039.1_3'UTR	NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	580					negative regulation of transmembrane transport (GO:0034763)|negative regulation of transporter activity (GO:0032410)|protein dephosphorylation (GO:0006470)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGAAACCCTCCACCCATCCCA	0.562																																						ENST00000271277.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						c.(1738-1740)cCa>cTa		CTTNBP2 N-terminal like							118.0	118.0	118.0					1																	112999853		2203	4300	6503	SO:0001583	missense	55917					actin cytoskeleton	protein binding	g.chr1:112999853C>T	AB037854	CCDS845.1	1p13.2	2008-02-05			ENSG00000143079	ENSG00000143079			25330	protein-coding gene	gene with protein product		615100				10718198	Standard	NM_018704		Approved	DKFZp547A023	uc001ebx.3	Q9P2B4	OTTHUMG00000011154	ENST00000271277.6:c.1739C>T	1.37:g.112999853C>T	ENSP00000271277:p.Pro580Leu					CTTNBP2NL_ENST00000607039.1_3'UTR|RP4-671G15.3_ENST00000508462.1_RNA	p.P580L	NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	6	1964	+		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)	580					B3KMS5|Q96B40	Missense_Mutation	SNP	ENST00000271277.6	37	c.1739C>T	CCDS845.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.172465	0.78452	.	.	ENSG00000143079	ENST00000271277	T	0.77620	-1.11	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.87140	0.6103	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.87590	0.2490	10	0.62326	D	0.03	-11.4791	19.0842	0.93196	0.0:1.0:0.0:0.0	.	580	Q9P2B4	CT2NL_HUMAN	L	580	ENSP00000271277:P580L	ENSP00000271277:P580L	P	+	2	0	CTTNBP2NL	112801376	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.456000	0.80751	2.608000	0.88229	0.462000	0.41574	CCA		0.562	CTTNBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030686.1	NM_018704		19	61	0	0	0	1	0	19	61				
TRIM43	129868	broad.mit.edu	37	2	96260870	96260870	+	Missense_Mutation	SNP	G	G	A	rs201221399		TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr2:96260870G>A	ENST00000272395.2	+	3	620	c.484G>A	c.(484-486)Gga>Aga	p.G162R		NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN	tripartite motif containing 43	162						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.G162R(2)		breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						ATATGAGGAGGGAAGAACAGC	0.398																																						ENST00000272395.2																			2	Substitution - Missense(2)	p.G162R(2)	lung(2)	breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						c.(484-486)Gga>Aga		tripartite motif containing 43							71.0	67.0	68.0					2																	96260870		2203	4300	6503	SO:0001583	missense	129868					intracellular	zinc ion binding	g.chr2:96260870G>A	BK000505	CCDS2015.1	2q11	2014-02-17	2011-01-25		ENSG00000144015	ENSG00000144015		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19015	protein-coding gene	gene with protein product			"""tripartite motif-containing 43"""				Standard	NM_138800		Approved	TRIM43A	uc002suv.3	Q96BQ3	OTTHUMG00000130401	ENST00000272395.2:c.484G>A	2.37:g.96260870G>A	ENSP00000272395:p.Gly162Arg						p.G162R	NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN			3	620	+			162					Q53TJ7	Missense_Mutation	SNP	ENST00000272395.2	37	c.484G>A	CCDS2015.1	.	.	.	.	.	.	.	.	.	.	.	0.011	-1.704919	0.00719	.	.	ENSG00000144015	ENST00000272395	T	0.04603	3.59	0.911	-1.82	0.07857	.	.	.	.	.	T	0.01730	0.0055	N	0.04297	-0.235	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40421	-0.9564	9	0.08381	T	0.77	5.3819	2.9369	0.05817	0.51:0.0:0.285:0.205	.	162	Q96BQ3	TRI43_HUMAN	R	162	ENSP00000272395:G162R	ENSP00000272395:G162R	G	+	1	0	TRIM43	95624597	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.758000	0.01810	-2.941000	0.00297	-2.114000	0.00352	GGA		0.398	TRIM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252784.1	NM_138800		3	20	0	0	0	1	0	3	20				
MRO	83876	broad.mit.edu	37	18	48327856	48327856	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr18:48327856A>G	ENST00000428869.2	-	7	706	c.448T>C	c.(448-450)Tac>Cac	p.Y150H	MRO_ENST00000587291.1_5'UTR|MRO_ENST00000256425.2_Missense_Mutation_p.Y150H|MRO_ENST00000431965.2_Intron|MRO_ENST00000436348.2_Missense_Mutation_p.Y164H|MRO_ENST00000588444.1_Intron|MRO_ENST00000398439.3_Missense_Mutation_p.Y150H			Q9BYG7	MSTRO_HUMAN	maestro	150						nucleolus (GO:0005730)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		AAGGCCGAGTATCTCAGACTG	0.468																																						ENST00000428869.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10						c.(448-450)Tac>Cac		maestro							171.0	166.0	168.0					18																	48327856		2203	4300	6503	SO:0001583	missense	83876					nucleolus	binding	g.chr18:48327856A>G	AK054702	CCDS11947.1, CCDS45867.1, CCDS45868.1, CCDS45869.1	18q21	2012-12-19	2004-06-15		ENSG00000134042	ENSG00000134042		"""maestro heat-like repeat containing"""	24121	protein-coding gene	gene with protein product	"""B29 protein"", ""beside the Ma29 deletion"""	608080	"""chromosome 18 open reading frame 3"""	C18orf3		11401430	Standard	NM_031939		Approved	B29, FLJ30140	uc010dpa.3	Q9BYG7	OTTHUMG00000132692	ENST00000428869.2:c.448T>C	18.37:g.48327856A>G	ENSP00000409509:p.Tyr150His					MRO_ENST00000588444.1_Intron|MRO_ENST00000256425.2_Missense_Mutation_p.Y150H|MRO_ENST00000398439.3_Missense_Mutation_p.Y150H|MRO_ENST00000431965.2_Intron|MRO_ENST00000587291.1_5'UTR|MRO_ENST00000436348.2_Missense_Mutation_p.Y164H	p.Y150H			Q9BYG7	MSTRO_HUMAN		Colorectal(21;0.082)	7	706	-		Colorectal(6;0.0596)	150					B7Z2I5|B7Z3B2|E9PAT5|E9PBI3|K7EKJ8|Q8N6K5	Missense_Mutation	SNP	ENST00000428869.2	37	c.448T>C	CCDS11947.1	.	.	.	.	.	.	.	.	.	.	A	17.62	3.435930	0.62955	.	.	ENSG00000134042	ENST00000436348;ENST00000398439;ENST00000256425	T;T;T	0.64991	-0.13;1.44;1.44	5.68	5.68	0.88126	Armadillo-like helical (1);Armadillo-type fold (1);	0.120193	0.38058	N	0.001828	T	0.76314	0.3970	M	0.81802	2.56	0.34587	D	0.715108	D;D	0.76494	0.999;0.999	D;D	0.70016	0.967;0.967	T	0.79617	-0.1729	10	0.15952	T	0.53	-21.1018	12.3363	0.55069	1.0:0.0:0.0:0.0	.	164;150	E9PAT5;Q9BYG7	.;MSTRO_HUMAN	H	164;150;150	ENSP00000397900:Y164H;ENSP00000381465:Y150H;ENSP00000256425:Y150H	ENSP00000256425:Y150H	Y	-	1	0	MRO	46581854	0.920000	0.31207	0.959000	0.39883	0.881000	0.50899	3.101000	0.50283	2.165000	0.68154	0.528000	0.53228	TAC		0.468	MRO-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449478.2	NM_031939		41	165	0	0	0	1	0	41	165				
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	lincRNA	SNP	C	C	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269																																						ENST00000423385.1																			0																																																			0							g.chr1:142803543C>T																													1.37:g.142803543C>T														0	1422	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.269	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			4	115	0	0	0	1	0	4	115				
TSHZ3	57616	broad.mit.edu	37	19	31768178	31768178	+	Nonsense_Mutation	SNP	C	C	A	rs199794016		TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr19:31768178C>A	ENST00000240587.4	-	2	2848	c.2521G>T	c.(2521-2523)Gag>Tag	p.E841*		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	841					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)					AAGGCATTCTCGCGTAGCGGC	0.522																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(2521-2523)Gag>Tag		teashirt zinc finger homeobox 3							147.0	139.0	142.0					19																	31768178		2203	4300	6503	SO:0001587	stop_gained	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.chr19:31768178C>A	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.2521G>T	19.37:g.31768178C>A	ENSP00000240587:p.Glu841*						p.E841*	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	2848	-	Esophageal squamous(110;0.226)		841					Q9H0G6|Q9P254	Nonsense_Mutation	SNP	ENST00000240587.4	37	c.2521G>T	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	C	42	9.588334	0.99213	.	.	ENSG00000121297	ENST00000240587	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-32.3308	19.1085	0.93307	0.0:1.0:0.0:0.0	.	.	.	.	X	841	.	ENSP00000240587:E841X	E	-	1	0	TSHZ3	36460018	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.366000	0.79548	2.501000	0.84356	0.655000	0.94253	GAG		0.522	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		24	72	1	0	9.39395e-14	1	1.14986e-13	24	72				
DPPA2	151871	broad.mit.edu	37	3	109023515	109023515	+	Missense_Mutation	SNP	C	C	T	rs199811743		TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr3:109023515C>T	ENST00000478945.1	-	7	907	c.661G>A	c.(661-663)Gtc>Atc	p.V221I		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	221					lung-associated mesenchyme development (GO:0060484)|positive regulation of stem cell proliferation (GO:2000648)|regulation of histone methylation (GO:0031060)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CACCACCTGACGCCTGGAAAG	0.498													C|||	1	0.000199681	0.0	0.0	5008	,	,		18499	0.0		0.001	False		,,,				2504	0.0					ENST00000478945.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(661-663)Gtc>Atc		developmental pluripotency associated 2		C	ILE/VAL	0,4406		0,0,2203	55.0	53.0	54.0		661	-5.7	0.0	3		54	2,8598	3.0+/-9.4	0,2,4298	yes	missense	DPPA2	NM_138815.3	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	221/299	109023515	2,13004	2203	4300	6503	SO:0001583	missense	151871					nucleus	nucleic acid binding	g.chr3:109023515C>T	AY283672	CCDS2956.1	3q13.13	2010-05-04			ENSG00000163530	ENSG00000163530			19197	protein-coding gene	gene with protein product	"""cancer/testis antigen 100"""	614445				15583978	Standard	NM_138815		Approved	PESCRG1, CT100	uc003dxo.3	Q7Z7J5	OTTHUMG00000159227	ENST00000478945.1:c.661G>A	3.37:g.109023515C>T	ENSP00000417710:p.Val221Ile						p.V221I	NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN			7	907	-			221					Q8WVF0	Missense_Mutation	SNP	ENST00000478945.1	37	c.661G>A	CCDS2956.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	15.05	2.717127	0.48622	0.0	2.33E-4	ENSG00000163530	ENST00000478945	T	0.32515	1.45	5.2	-5.65	0.02459	.	1.722310	0.03109	N	0.162213	T	0.34978	0.0916	L	0.51422	1.61	0.09310	N	1	D	0.65815	0.995	P	0.55545	0.778	T	0.48854	-0.8998	10	0.56958	D	0.05	-0.1759	2.1039	0.03686	0.1109:0.2014:0.3276:0.3601	.	221	Q7Z7J5	DPPA2_HUMAN	I	221	ENSP00000417710:V221I	ENSP00000417710:V221I	V	-	1	0	DPPA2	110506205	0.000000	0.05858	0.009000	0.14445	0.054000	0.15201	-1.536000	0.02208	-0.759000	0.04684	-0.315000	0.08773	GTC		0.498	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353938.1	NM_138815		14	50	0	0	0	1	0	14	50				
IKZF5	64376	broad.mit.edu	37	10	124754116	124754116	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr10:124754116C>T	ENST00000368886.5	-	5	760	c.440G>A	c.(439-441)tGc>tAc	p.C147Y	PSTK_ENST00000497219.1_Intron	NM_001271840.1	NP_001258769.1	Q9H5V7	IKZF5_HUMAN	IKAROS family zinc finger 5 (Pegasus)	147					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)|lung(3)|prostate(1)	6		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)		TCGATCACTGCAGCGGAAGGA	0.433																																						ENST00000368886.5																			0				endometrium(2)|lung(3)|prostate(1)	6						c.(439-441)tGc>tAc		IKAROS family zinc finger 5 (Pegasus)							115.0	105.0	108.0					10																	124754116		1986	4171	6157	SO:0001583	missense	64376				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:124754116C>T	AF230808	CCDS41574.1	10q26	2011-05-31	2006-08-25	2006-08-25	ENSG00000095574	ENSG00000095574		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	14283	protein-coding gene	gene with protein product		606238	"""zinc finger protein, subfamily 1A, 5"", ""zinc finger protein, subfamily 1A, 5 (Pegasus)"""	ZNFN1A5		10978333	Standard	NM_001271840		Approved	Pegasus, FLJ22973	uc021qaj.2	Q9H5V7	OTTHUMG00000019192	ENST00000368886.5:c.440G>A	10.37:g.124754116C>T	ENSP00000357881:p.Cys147Tyr					PSTK_ENST00000497219.1_Intron	p.C147Y	NM_001271840.1	NP_001258769.1	Q9H5V7	IKZF5_HUMAN		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)	5	760	-		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)	147					B3KVH7|D3DRE7|Q9H2T0	Missense_Mutation	SNP	ENST00000368886.5	37	c.440G>A	CCDS41574.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.590673	0.28357	.	.	ENSG00000095574	ENST00000368886	T	0.15834	2.39	5.95	5.95	0.96441	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.18299	0.0439	N	0.02391	-0.57	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.31530	-0.9940	10	0.07175	T	0.84	-21.908	20.3932	0.98965	0.0:1.0:0.0:0.0	.	147	Q9H5V7	IKZF5_HUMAN	Y	147	ENSP00000357881:C147Y	ENSP00000357881:C147Y	C	-	2	0	IKZF5	124744106	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.771000	0.85420	2.824000	0.97209	0.655000	0.94253	TGC		0.433	IKZF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050820.2	NM_022466		6	50	0	0	0	1	0	6	50				
DPP4	1803	broad.mit.edu	37	2	162865771	162865771	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr2:162865771G>A	ENST00000360534.3	-	21	2427	c.1867C>T	c.(1867-1869)Cga>Tga	p.R623*	DPP4_ENST00000491591.1_5'UTR	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	623					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	ATTGCAATTCGTTTGTTGTCC	0.368																																						ENST00000360534.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48						c.(1867-1869)Cga>Tga		dipeptidyl-peptidase 4	Sitagliptin(DB01261)						155.0	145.0	149.0					2																	162865771		2203	4300	6503	SO:0001587	stop_gained	1803				cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity	g.chr2:162865771G>A	M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"""CD molecules"""	3009	protein-coding gene	gene with protein product		102720	"""dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)"", ""adenosine deaminase complexing protein 2"""	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.1867C>T	2.37:g.162865771G>A	ENSP00000353731:p.Arg623*					DPP4_ENST00000491591.1_5'UTR	p.R623*	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN			21	2427	-			623					Q53TN1	Nonsense_Mutation	SNP	ENST00000360534.3	37	c.1867C>T	CCDS2216.1	.	.	.	.	.	.	.	.	.	.	G	43	10.041523	0.99324	.	.	ENSG00000197635	ENST00000360534	.	.	.	5.48	3.65	0.41850	.	0.118372	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.901	13.9306	0.63994	0.0:0.0:0.4373:0.5626	.	.	.	.	X	623	.	ENSP00000353731:R623X	R	-	1	2	DPP4	162574017	0.999000	0.42202	0.030000	0.17652	0.788000	0.44548	3.080000	0.50112	0.757000	0.33036	0.655000	0.94253	CGA		0.368	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2			24	24	0	0	0	1	0	24	24				
PLCL1	5334	broad.mit.edu	37	2	198949847	198949847	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr2:198949847A>T	ENST00000428675.1	+	2	2004	c.1606A>T	c.(1606-1608)Atg>Ttg	p.M536L	PLCL1_ENST00000437704.2_Missense_Mutation_p.M438L	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	536	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	ATTAAAAAGAATGATCATTGT	0.393																																						ENST00000428675.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(1606-1608)Atg>Ttg		phospholipase C-like 1	Quinacrine(DB01103)						49.0	49.0	49.0					2																	198949847		2203	4299	6502	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198949847A>T	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.1606A>T	2.37:g.198949847A>T	ENSP00000402861:p.Met536Leu					PLCL1_ENST00000437704.2_Missense_Mutation_p.M438L	p.M536L	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN			2	2004	+			536			PI-PLC X-box.		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.1606A>T	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	A	12.56	1.975686	0.34848	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.62639	0.01;0.01	5.94	4.72	0.59763	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.324780	0.31134	N	0.008186	T	0.44912	0.1316	N	0.19112	0.55	0.31324	N	0.685654	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43180	-0.9407	9	.	.	.	.	12.8927	0.58080	0.8645:0.1355:0.0:0.0	.	536;462	Q15111;B4DYZ4	PLCL1_HUMAN;.	L	536;438	ENSP00000402861:M536L;ENSP00000414138:M438L	.	M	+	1	0	PLCL1	198658092	1.000000	0.71417	0.992000	0.48379	0.992000	0.81027	5.068000	0.64364	2.279000	0.76181	0.459000	0.35465	ATG		0.393	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		22	28	0	0	0	1	0	22	28				
ADAMTS19	171019	broad.mit.edu	37	5	129030413	129030413	+	Splice_Site	SNP	G	G	A			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr5:129030413G>A	ENST00000274487.4	+	19	2946	c.2801G>A	c.(2800-2802)gGa>gAa	p.G934E	CTC-575N7.1_ENST00000503616.1_RNA|ADAMTS19_ENST00000509467.1_3'UTR	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	934	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TTCTTTTCAGGAGAAAGGAAG	0.313																																						ENST00000274487.4																			0				NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91						c.e19-1		ADAM metallopeptidase with thrombospondin type 1 motif, 19							56.0	55.0	55.0					5																	129030413		2203	4300	6503	SO:0001630	splice_region_variant	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:129030413G>A	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.2801-1G>A	5.37:g.129030413G>A						CTC-575N7.1_ENST00000503616.1_RNA|ADAMTS19_ENST00000509467.1_3'UTR	p.G934_splice	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	19	2946	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	934			TSP type-1 2.			Splice_Site	SNP	ENST00000274487.4	37	c.2800_splice	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.709640	0.68730	.	.	ENSG00000145808	ENST00000274487	T	0.71934	-0.61	4.07	4.07	0.47477	.	0.000000	0.64402	D	0.000001	D	0.88599	0.6480	H	0.96430	3.82	0.80722	D	1	D	0.71674	0.998	D	0.67548	0.952	D	0.92518	0.6022	9	.	.	.	.	17.5727	0.87939	0.0:0.0:1.0:0.0	.	934	Q8TE59	ATS19_HUMAN	E	934	ENSP00000274487:G934E	.	G	+	2	0	ADAMTS19	129058312	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	6.934000	0.75880	2.557000	0.86248	0.555000	0.69702	GGA		0.313	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638	Missense_Mutation	6	38	0	0	0	1	0	6	38				
CTDSPL2	51496	broad.mit.edu	37	15	44789262	44789262	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr15:44789262G>A	ENST00000260327.4	+	7	1371	c.808G>A	c.(808-810)Gaa>Aaa	p.E270K	CTDSPL2_ENST00000558966.1_Missense_Mutation_p.E270K|CTDSPL2_ENST00000561189.1_3'UTR|CTDSPL2_ENST00000558373.1_Missense_Mutation_p.E198K|CTDSPL2_ENST00000396780.1_Missense_Mutation_p.E198K	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2	270							phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		ACTGACAGAAGAACAACTAAA	0.323																																						ENST00000260327.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13						c.(808-810)Gaa>Aaa		CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2							68.0	67.0	67.0					15																	44789262		2198	4298	6496	SO:0001583	missense	51496						phosphoprotein phosphatase activity	g.chr15:44789262G>A	AF161478	CCDS10110.1	15q15.3-q21.1	2010-06-21			ENSG00000137770	ENSG00000137770		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	26936	protein-coding gene	gene with protein product							Standard	NM_016396		Approved	HSPC129, FLJ10523	uc001ztr.3	Q05D32	OTTHUMG00000131159	ENST00000260327.4:c.808G>A	15.37:g.44789262G>A	ENSP00000260327:p.Glu270Lys					CTDSPL2_ENST00000558373.1_Missense_Mutation_p.E198K|CTDSPL2_ENST00000561189.1_3'UTR|CTDSPL2_ENST00000396780.1_Missense_Mutation_p.E198K|CTDSPL2_ENST00000558966.1_Missense_Mutation_p.E270K	p.E270K	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)	7	1371	+		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)	270					Q3ZTU1|Q6AI06|Q8IYI9|Q9NVT2|Q9NZX8|Q9P030	Missense_Mutation	SNP	ENST00000260327.4	37	c.808G>A	CCDS10110.1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.265145	0.59431	.	.	ENSG00000137770	ENST00000260327;ENST00000396780	T;T	0.16324	2.35;2.54	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.27169	0.0666	M	0.68317	2.08	0.80722	D	1	P;B	0.45768	0.866;0.073	P;B	0.45794	0.493;0.025	T	0.01879	-1.1255	10	0.19590	T	0.45	-15.4629	19.3879	0.94565	0.0:0.0:1.0:0.0	.	198;270	Q05D32-2;Q05D32	.;CTSL2_HUMAN	K	270;198	ENSP00000260327:E270K;ENSP00000380000:E198K	ENSP00000260327:E270K	E	+	1	0	CTDSPL2	42576554	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.681000	0.98653	2.741000	0.93983	0.650000	0.86243	GAA		0.323	CTDSPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253851.1	NM_016396		15	58	0	0	0	1	0	15	58				
HDGFL1	154150	broad.mit.edu	37	6	22569841	22569841	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr6:22569841G>A	ENST00000230012.3	+	1	164	c.37G>A	c.(37-39)Gac>Aac	p.D13N	HDGFL1_ENST00000510882.2_Missense_Mutation_p.D13N	NM_138574.2	NP_612641.2	Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	13	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.									kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					CAAGAGCGGGGACCTGGTGTT	0.622																																						ENST00000510882.2																			0				kidney(1)|large_intestine(3)|lung(7)	11						c.(37-39)Gac>Aac		hepatoma derived growth factor-like 1							63.0	65.0	65.0					6																	22569841		2203	4300	6503	SO:0001583	missense	154150							g.chr6:22569841G>A	AK056824	CCDS34347.1	6p22.2	2008-02-05	2005-04-07	2005-04-07	ENSG00000112273	ENSG00000112273			21095	protein-coding gene	gene with protein product			"""PWWP domain containing 1"""	PWWP1			Standard	NM_138574		Approved	dJ309H15.1	uc003nds.3	Q5TGJ6	OTTHUMG00000016206	ENST00000230012.3:c.37G>A	6.37:g.22569841G>A	ENSP00000230012:p.Asp13Asn					HDGFL1_ENST00000230012.3_Missense_Mutation_p.D13N	p.D13N			Q5TGJ6	HDGL1_HUMAN			1	47	+	Ovarian(93;0.163)		13			PWWP.		Q96MJ6	Missense_Mutation	SNP	ENST00000230012.3	37	c.37G>A	CCDS34347.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.968596	0.74131	.	.	ENSG00000112273	ENST00000230012;ENST00000510882	T;T	0.75589	-0.95;-0.95	3.62	3.62	0.41486	PWWP (3);	0.000000	0.64402	D	0.000001	D	0.89269	0.6667	H	0.97440	4.005	0.51482	D	0.999924	D	0.89917	1.0	D	0.97110	1.0	D	0.92130	0.5711	10	0.87932	D	0	-56.463	13.5946	0.61982	0.0:0.0:1.0:0.0	.	13	Q5TGJ6	HDGL1_HUMAN	N	13	ENSP00000230012:D13N;ENSP00000442129:D13N	ENSP00000230012:D13N	D	+	1	0	HDGFL1	22677820	1.000000	0.71417	0.930000	0.37139	0.423000	0.31445	7.468000	0.80943	2.321000	0.78463	0.491000	0.48974	GAC		0.622	HDGFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043500.1	NM_138574		9	49	0	0	0	1	0	9	49				
ECM1	1893	broad.mit.edu	37	1	150482213	150482213	+	Silent	SNP	C	C	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr1:150482213C>T	ENST00000369047.4	+	3	323	c.198C>T	c.(196-198)ggC>ggT	p.G66G	ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000369049.4_Silent_p.G66G|ECM1_ENST00000346569.6_Silent_p.G66G	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	66					angiogenesis (GO:0001525)|biomineral tissue development (GO:0031214)|inflammatory response (GO:0006954)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of peptidase activity (GO:0010466)|ossification (GO:0001503)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of T cell migration (GO:2000404)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type 2 immune response (GO:0002828)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	enzyme binding (GO:0019899)|laminin binding (GO:0043236)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CTCAGCATGGCCCTCCCTTTG	0.572																																					Melanoma(156;1696 2560 11093 19685)	ENST00000369047.4																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22						c.(196-198)ggC>ggT		extracellular matrix protein 1							97.0	92.0	94.0					1																	150482213		2203	4300	6503	SO:0001819	synonymous_variant	1893				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity	g.chr1:150482213C>T	U68186	CCDS953.1, CCDS954.1, CCDS55632.1	1q21	2008-02-05			ENSG00000143369	ENSG00000143369			3153	protein-coding gene	gene with protein product		602201				9367673, 9501329	Standard	NM_004425		Approved		uc001eus.3	Q16610	OTTHUMG00000012806	ENST00000369047.4:c.198C>T	1.37:g.150482213C>T						ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000369049.4_Silent_p.G66G|ECM1_ENST00000346569.6_Silent_p.G66G	p.G66G	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		3	323	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		66					A8K8S0|B4DW49|B4DY60|O43266|Q5T5G4|Q5T5G5|Q5T5G6|Q8IZ60	Silent	SNP	ENST00000369047.4	37	c.198C>T	CCDS953.1																																																																																				0.572	ECM1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035832.2	NM_004425		27	117	0	0	0	1	0	27	117				
EBF3	253738	broad.mit.edu	37	10	131666136	131666136	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr10:131666136C>A	ENST00000355311.5	-	9	894	c.822G>T	c.(820-822)tgG>tgT	p.W274C	EBF3_ENST00000368648.3_Missense_Mutation_p.W265C			Q9H4W6	COE3_HUMAN	early B-cell factor 3	274	IPT/TIG.				multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.W265C(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		CCCCCGTGGTCCAGCCTTCAC	0.587																																						ENST00000368648.3																			1	Substitution - Missense(1)	p.W265C(1)	central_nervous_system(1)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44						c.(793-795)tgG>tgT		early B-cell factor 3							109.0	88.0	95.0					10																	131666136		2203	4300	6503	SO:0001583	missense	253738				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	g.chr10:131666136C>A		CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.822G>T	10.37:g.131666136C>A	ENSP00000347463:p.Trp274Cys					EBF3_ENST00000355311.5_Missense_Mutation_p.W274C	p.W265C	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00513)	9	867	-		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)	274			IPT/TIG.		A0AUY1|Q5T6H9|Q9H4W5	Missense_Mutation	SNP	ENST00000355311.5	37	c.795G>T		.	.	.	.	.	.	.	.	.	.	C	17.14	3.314046	0.60414	.	.	ENSG00000108001	ENST00000355311;ENST00000368648	T;T	0.76448	-1.02;-1.02	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.77758	0.4178	L	0.58428	1.81	0.80722	D	1	P	0.35192	0.489	B	0.35114	0.196	T	0.77568	-0.2539	10	0.56958	D	0.05	-9.4809	20.3312	0.98718	0.0:1.0:0.0:0.0	.	265	Q9H4W6-2	.	C	274;265	ENSP00000347463:W274C;ENSP00000357637:W265C	ENSP00000347463:W274C	W	-	3	0	EBF3	131556126	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.752000	0.85141	2.894000	0.99253	0.655000	0.94253	TGG		0.587	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2	NM_001005463		18	56	1	0	1.15919e-05	1	1.27283e-05	18	56				
HNRNPUL1	11100	broad.mit.edu	37	19	41812381	41812381	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr19:41812381C>T	ENST00000392006.3	+	15	2655	c.2482C>T	c.(2482-2484)Cag>Tag	p.Q828*	HNRNPUL1_ENST00000263367.3_Nonsense_Mutation_p.Q739*|HNRNPUL1_ENST00000602130.1_Nonsense_Mutation_p.Q776*|HNRNPUL1_ENST00000595018.1_Nonsense_Mutation_p.Q728*|HNRNPUL1_ENST00000593587.1_Nonsense_Mutation_p.Q728*|HNRNPUL1_ENST00000352456.3_Nonsense_Mutation_p.Q738*|HNRNPUL1_ENST00000378215.4_Nonsense_Mutation_p.Q724*	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	828	Gln-rich.|Necessary for interaction with TP53.|Tyr-rich.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						CCAGTACTATCAGAACCAGGG	0.567																																						ENST00000392006.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(2482-2484)Cag>Tag		heterogeneous nuclear ribonucleoprotein U-like 1							122.0	101.0	108.0					19																	41812381		2203	4300	6503	SO:0001587	stop_gained	11100				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding	g.chr19:41812381C>T	AJ007509	CCDS12576.1, CCDS12577.1	19q13.2	2013-06-12		2008-04-18	ENSG00000105323	ENSG00000105323			17011	protein-coding gene	gene with protein product	"""E1B 55kDa associated protein 5"""	605800		HNRPUL1		9733834, 12489984	Standard	XM_005258459		Approved	E1B-AP5, E1BAP5, FLJ12944	uc002oqb.4	Q9BUJ2	OTTHUMG00000182740	ENST00000392006.3:c.2482C>T	19.37:g.41812381C>T	ENSP00000375863:p.Gln828*					HNRNPUL1_ENST00000352456.3_Nonsense_Mutation_p.Q738*|HNRNPUL1_ENST00000378215.4_Nonsense_Mutation_p.Q724*|HNRNPUL1_ENST00000263367.3_Nonsense_Mutation_p.Q739*|HNRNPUL1_ENST00000602130.1_Nonsense_Mutation_p.Q776*|HNRNPUL1_ENST00000593587.1_Nonsense_Mutation_p.Q728*|HNRNPUL1_ENST00000595018.1_Nonsense_Mutation_p.Q728*	p.Q828*	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN			15	2655	+			828			Gln-rich.|Necessary for interaction with TP53.|Tyr-rich.		B3KMW7|O76022|Q6ZSZ0|Q7L8P4|Q8N6Z4|Q96G37|Q9HAL3|Q9UG75	Nonsense_Mutation	SNP	ENST00000392006.3	37	c.2482C>T	CCDS12576.1	.	.	.	.	.	.	.	.	.	.	C	38	7.054196	0.98032	.	.	ENSG00000105323	ENST00000352456;ENST00000392006;ENST00000378215;ENST00000263367	.	.	.	4.51	4.51	0.55191	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-13.3436	15.2433	0.73488	0.0:1.0:0.0:0.0	.	.	.	.	X	728;828;724;739	.	ENSP00000263367:Q739X	Q	+	1	0	HNRNPUL1	46504221	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.315000	0.72853	2.822000	0.97130	0.650000	0.86243	CAG		0.567	HNRNPUL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463406.1	NM_144732, NM_007040		32	85	0	0	0	1	0	32	85				
SLC12A3	6559	broad.mit.edu	37	16	56904621	56904621	+	Silent	SNP	C	C	T	rs140167332		TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr16:56904621C>T	ENST00000563236.1	+	6	850	c.825C>T	c.(823-825)tcC>tcT	p.S275S	SLC12A3_ENST00000262502.5_Silent_p.S274S|SLC12A3_ENST00000566786.1_Silent_p.S274S|SLC12A3_ENST00000438926.2_Silent_p.S275S			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	275					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TGGCCATCTCCCTGGCTGGCA	0.632																																						ENST00000438926.2																			0				breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(823-825)tcC>tcT		solute carrier family 12 (sodium/chloride transporter), member 3	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	C	,,	3,4393	6.2+/-15.9	0,3,2195	70.0	56.0	61.0		825,822,825	1.8	1.0	16	dbSNP_134	61	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	SLC12A3	NM_000339.2,NM_001126107.1,NM_001126108.1	,,	0,3,6495	TT,TC,CC		0.0,0.0682,0.0231	,,	275/1031,274/1030,275/1022	56904621	3,12993	2198	4300	6498	SO:0001819	synonymous_variant	6559				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	g.chr16:56904621C>T		CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.825C>T	16.37:g.56904621C>T						SLC12A3_ENST00000566786.1_Silent_p.S274S|SLC12A3_ENST00000563236.1_Silent_p.S275S|SLC12A3_ENST00000262502.5_Silent_p.S274S	p.S275S	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN			6	854	+			275					A8MSJ2|C9JNN9	Silent	SNP	ENST00000563236.1	37	c.825C>T	CCDS58464.1																																																																																				0.632	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1			5	35	0	0	0	1	0	5	35				
LRRC37A4P	55073	broad.mit.edu	37	17	43587657	43587657	+	RNA	SNP	C	C	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr17:43587657C>T	ENST00000579913.1	-	0	1396				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		GGTGACAACACATCTGTTTTA	0.323																																						ENST00000253803.2																			0																																																			100294341							g.chr17:43587657C>T	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587657C>T						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.323	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		4	135	0	0	0	1	0	4	135				
PDZD11	51248	broad.mit.edu	37	X	69507127	69507127	+	Splice_Site	SNP	G	G	A			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chrX:69507127G>A	ENST00000239666.4	-	6	519	c.387C>T	c.(385-387)taC>taT	p.Y129Y	PDZD11_ENST00000374454.1_Splice_Site_p.Y129Y|PDZD11_ENST00000473667.1_5'Flank|KIF4A_ENST00000374403.3_5'Flank|KIF4A_ENST00000374388.3_5'Flank	NM_016484.4	NP_057568.1	Q5EBL8	PDZ11_HUMAN	PDZ domain containing 11	129	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)	protein C-terminus binding (GO:0008022)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)	9						GGCACTTACTGTAGGGAAAGA	0.448																																						ENST00000239666.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(3)	9						c.e6+1		PDZ domain containing 11							81.0	71.0	74.0					X																	69507127		2203	4300	6503	SO:0001630	splice_region_variant	51248					basolateral plasma membrane|cytosol|extracellular region	protein C-terminus binding	g.chrX:69507127G>A	AF151061	CCDS14400.1	Xq13.1	2008-02-05		2006-01-24	ENSG00000120509	ENSG00000120509			28034	protein-coding gene	gene with protein product		300632		PDZK11		11042152, 12975309	Standard	NM_016484		Approved		uc004dyd.1	Q5EBL8	OTTHUMG00000021771	ENST00000239666.4:c.388+1C>T	X.37:g.69507127G>A						PDZD11_ENST00000374454.1_Splice_Site_p.Y129_splice	p.Y129_splice	NM_016484.4	NP_057568.1	Q5EBL8	PDZ11_HUMAN			6	519	-			129			PDZ.		D3DVU3|Q6UWE1|Q9P0Q1	Splice_Site	SNP	ENST00000239666.4	37	c.388_splice	CCDS14400.1																																																																																				0.448	PDZD11-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057060.1	NM_016484	Silent	7	14	0	0	0	1	0	7	14				
ITCH	83737	broad.mit.edu	37	20	33077107	33077107	+	Silent	SNP	A	A	G			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr20:33077107A>G	ENST00000262650.6	+	22	2389	c.2253A>G	c.(2251-2253)gaA>gaG	p.E751E	ITCH_ENST00000374864.4_Silent_p.E710E|ITCH_ENST00000535650.1_Silent_p.E600E			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	751	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of defense response to virus (GO:0050687)|negative regulation of JNK cascade (GO:0046329)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cell growth (GO:0001558)|regulation of protein deubiquitination (GO:0090085)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	CXCR chemokine receptor binding (GO:0045236)|ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						GAGGTGTTGAAGAACAGACAC	0.348																																						ENST00000374864.4																			0				NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						c.(2128-2130)gaA>gaG		itchy E3 ubiquitin protein ligase							99.0	96.0	97.0					20																	33077107		2203	4300	6503	SO:0001819	synonymous_variant	83737				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity	g.chr20:33077107A>G	AF095745	CCDS13234.1, CCDS58768.1, CCDS58769.1	20q11.22	2014-09-17	2012-02-23		ENSG00000078747	ENSG00000078747			13890	protein-coding gene	gene with protein product		606409	"""itchy (mouse homolog) E3 ubiquitin protein ligase"", ""itchy E3 ubiquitin protein ligase homolog (mouse)"""			11318614	Standard	NM_001257137		Approved	AIP4	uc010geu.2	Q96J02	OTTHUMG00000032300	ENST00000262650.6:c.2253A>G	20.37:g.33077107A>G						ITCH_ENST00000535650.1_Silent_p.E600E|ITCH_ENST00000262650.6_Silent_p.E751E	p.E710E	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN			21	2343	+			751			HECT.		A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	Silent	SNP	ENST00000262650.6	37	c.2130A>G	CCDS58768.1																																																																																				0.348	ITCH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078783.2			12	41	0	0	0	1	0	12	41				
KIAA0408	9729	broad.mit.edu	37	6	127768624	127768624	+	Silent	SNP	C	C	T	rs138966810		TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr6:127768624C>T	ENST00000483725.3	-	5	1176	c.840G>A	c.(838-840)tcG>tcA	p.S280S	SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	280										endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		GTTCAGAATCCGAGCTGGGAA	0.428																																						ENST00000483725.3																			0				endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28						c.(838-840)tcG>tcA		KIAA0408		C	,	1,4405	2.1+/-5.4	0,1,2202	115.0	117.0	116.0		,840	-10.9	0.0	6	dbSNP_134	116	0,8600		0,0,4300	no	utr-3,coding-synonymous	KIAA0408,C6orf174	NM_001012279.2,NM_014702.4	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	,280/695	127768624	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9729						protein binding	g.chr6:127768624C>T	AB007868	CCDS34531.1	6q22.33	2012-11-29			ENSG00000189367	ENSG00000189367			21636	protein-coding gene	gene with protein product							Standard	NM_014702		Approved		uc011ebs.2	Q6ZU52	OTTHUMG00000166439	ENST00000483725.3:c.840G>A	6.37:g.127768624C>T						SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	p.S280S	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN		GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)	5	1176	-			280					B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Silent	SNP	ENST00000483725.3	37	c.840G>A	CCDS34531.1																																																																																				0.428	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042145.3	NM_014702		22	89	0	0	0	1	0	22	89				
ZNF385D	79750	broad.mit.edu	37	3	21478515	21478515	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr3:21478515G>T	ENST00000281523.2	-	5	1138	c.620C>A	c.(619-621)tCg>tAg	p.S207*	ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	207						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.S207L(1)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						CTTGCATAGCGAACAGTAAAG	0.478																																						ENST00000281523.2																			1	Substitution - Missense(1)	p.S207L(1)	large_intestine(1)	NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						c.(619-621)tCg>tAg		zinc finger protein 385D							178.0	147.0	158.0					3																	21478515		2203	4300	6503	SO:0001587	stop_gained	79750					nucleus	nucleic acid binding|zinc ion binding	g.chr3:21478515G>T	BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"""zinc finger protein 659"""	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.620C>A	3.37:g.21478515G>T	ENSP00000281523:p.Ser207*					ZNF385D_ENST00000494118.1_5'UTR	p.S207*	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN			5	1138	-			207						Nonsense_Mutation	SNP	ENST00000281523.2	37	c.620C>A	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	G	41	8.643121	0.98897	.	.	ENSG00000151789	ENST00000281523	.	.	.	6.09	6.09	0.99107	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.6409	20.6789	0.99705	0.0:0.0:1.0:0.0	.	.	.	.	X	207	.	ENSP00000281523:S207X	S	-	2	0	ZNF385D	21453519	1.000000	0.71417	0.979000	0.43373	0.999000	0.98932	9.769000	0.98969	2.891000	0.99171	0.655000	0.94253	TCG		0.478	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697		19	81	1	0	3.62473e-10	1	4.27337e-10	19	81				
SH2D1A	4068	broad.mit.edu	37	X	123499672	123499672	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chrX:123499672G>A	ENST00000371139.4	+	2	498	c.199G>A	c.(199-201)Gag>Aag	p.E67K	SH2D1A_ENST00000491950.1_Intron|SH2D1A_ENST00000477673.2_Silent_p.L59L|SH2D1A_ENST00000360027.4_Missense_Mutation_p.E67K|STAG2_ENST00000469481.1_Intron	NM_001114937.2|NM_002351.4	NP_001108409.1|NP_002342.1	O60880	SH21A_HUMAN	SH2 domain containing 1A	67	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|humoral immune response (GO:0006959)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						TTGGAGTGCTGAGGTATAGTT	0.348																																						ENST00000371139.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(199-201)Gag>Aag		SH2 domain containing 1A							189.0	169.0	175.0					X																	123499672		2203	4300	6503	SO:0001583	missense	4068				cell-cell signaling|cellular defense response	cytoplasm	SH3/SH2 adaptor activity	g.chrX:123499672G>A	AL023657	CCDS14608.1, CCDS48162.1	Xq25	2014-09-17	2010-04-21		ENSG00000183918	ENSG00000183918		"""SH2 domain containing"""	10820	protein-coding gene	gene with protein product	"""Duncan's disease"""	300490	"""lymphoproliferative syndrome"", ""SH2 domain protein 1A"""	IMD5, LYP		9771704, 9774102	Standard	NM_001114937		Approved	XLP, MTCP1, DSHP, XLPD, EBVS, SAP	uc004euf.4	O60880	OTTHUMG00000022344	ENST00000371139.4:c.199G>A	X.37:g.123499672G>A	ENSP00000360181:p.Glu67Lys					SH2D1A_ENST00000470647.1_3'UTR|SH2D1A_ENST00000360027.4_Missense_Mutation_p.E67K|STAG2_ENST00000469481.1_Intron	p.E67K	NM_001114937.2|NM_002351.4	NP_001108409.1|NP_002342.1	O60880	SH21A_HUMAN			2	498	+			67			SH2.		A8MSW0|O95383|O95384|O95385|O95386|Q6FGS6|Q9UNR0	Missense_Mutation	SNP	ENST00000371139.4	37	c.199G>A	CCDS14608.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.512985	0.64522	.	.	ENSG00000183918	ENST00000371139;ENST00000360027	D;D	0.98633	-5.04;-5.04	4.78	4.78	0.61160	SH2 motif (4);	0.110269	0.64402	D	0.000010	D	0.97390	0.9146	M	0.64170	1.965	0.47009	D	0.999287	B;P	0.40909	0.137;0.732	B;B	0.38880	0.06;0.284	D	0.98091	1.0409	10	0.56958	D	0.05	-22.182	15.4792	0.75511	0.0:0.0:1.0:0.0	.	67;67	O60880-4;O60880	.;SH21A_HUMAN	K	67	ENSP00000360181:E67K;ENSP00000353126:E67K	ENSP00000353126:E67K	E	+	1	0	SH2D1A	123327353	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.292000	0.72725	2.211000	0.71520	0.600000	0.82982	GAG		0.348	SH2D1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058174.1	NM_002351		24	37	0	0	0	1	0	24	37				
ANKRD17	26057	broad.mit.edu	37	4	73986653	73986653	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr4:73986653G>A	ENST00000358602.4	-	20	3910	c.3794C>T	c.(3793-3795)aCt>aTt	p.T1265I	ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000509867.2_Missense_Mutation_p.T1152I|ANKRD17_ENST00000330838.6_Missense_Mutation_p.T1014I	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1265					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AACCACTTCAGTTCTTCCTTG	0.398																																						ENST00000358602.4																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.(3793-3795)aCt>aTt		ankyrin repeat domain 17							138.0	129.0	132.0					4																	73986653		2203	4300	6503	SO:0001583	missense	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:73986653G>A	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.3794C>T	4.37:g.73986653G>A	ENSP00000351416:p.Thr1265Ile					ANKRD17_ENST00000330838.6_Missense_Mutation_p.T1014I|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000509867.2_Missense_Mutation_p.T1152I	p.T1265I	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		20	3910	-	Breast(15;0.000295)		1265					E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	c.3794C>T	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.046747	0.55110	.	.	ENSG00000132466	ENST00000358602;ENST00000330838;ENST00000509867	T;T;T	0.63096	-0.02;-0.02;-0.02	5.88	5.88	0.94601	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000002	T	0.63462	0.2513	N	0.11154	0.105	0.47407	D	0.999414	B;P;P;D;D	0.63880	0.249;0.949;0.949;0.959;0.993	B;P;P;P;D	0.62955	0.281;0.498;0.498;0.631;0.909	T	0.65170	-0.6233	10	0.34782	T	0.22	.	20.2278	0.98344	0.0:0.0:1.0:0.0	.	786;1264;1014;1265;1152	B4DR08;O75179-2;G5E964;O75179;E7EUV3	.;.;.;ANR17_HUMAN;.	I	1265;1014;1152	ENSP00000351416:T1265I;ENSP00000332265:T1014I;ENSP00000427151:T1152I	ENSP00000332265:T1014I	T	-	2	0	ANKRD17	74205517	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.858000	0.86971	2.759000	0.94783	0.650000	0.86243	ACT		0.398	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		18	73	0	0	0	1	0	18	73				
PPM1D	8493	broad.mit.edu	37	17	58740836	58740836	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr17:58740836C>T	ENST00000305921.3	+	6	1973	c.1741C>T	c.(1741-1743)Cga>Tga	p.R581*	RNU6-623P_ENST00000363143.1_RNA	NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	581					G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of cell proliferation (GO:0008285)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			ACTCACCATGCGACGCAGACT	0.448											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										ENST00000305921.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15						c.(1741-1743)Cga>Tga		protein phosphatase, Mg2+/Mn2+ dependent, 1D							86.0	83.0	84.0					17																	58740836		2203	4300	6503	SO:0001587	stop_gained	8493				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr17:58740836C>T	U78305	CCDS11625.1	17q23.3	2014-09-17	2010-03-05		ENSG00000170836	ENSG00000170836		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9277	protein-coding gene	gene with protein product	"""wild-type p53-induced phosphatase 1"", ""protein phosphatase 2C, delta isoform"""	605100	"""protein phosphatase 1D magnesium-dependent, delta isoform"""			9177166	Standard	NM_003620		Approved	Wip1, PP2C-DELTA	uc002iyt.2	O15297		ENST00000305921.3:c.1741C>T	17.37:g.58740836C>T	ENSP00000306682:p.Arg581*		OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	1033		p.R581*	NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)		6	1973	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		581					Q53XP4|Q6P991|Q8IVR6	Nonsense_Mutation	SNP	ENST00000305921.3	37	c.1741C>T	CCDS11625.1	.	.	.	.	.	.	.	.	.	.	C	38	6.887218	0.97912	.	.	ENSG00000170836	ENST00000305921	.	.	.	5.98	2.75	0.32379	.	0.278410	0.34268	N	0.004118	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.6262	14.6036	0.68460	0.5212:0.4788:0.0:0.0	.	.	.	.	X	581	.	ENSP00000306682:R581X	R	+	1	2	PPM1D	56095618	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	0.502000	0.22594	0.341000	0.23771	0.591000	0.81541	CGA		0.448	PPM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449474.1	NM_003620		10	59	0	0	0	1	0	10	59				
DIAPH1	1729	broad.mit.edu	37	5	140905924	140905924	+	Silent	SNP	G	G	A			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr5:140905924G>A	ENST00000398557.4	-	25	3518	c.3378C>T	c.(3376-3378)ccC>ccT	p.P1126P	DIAPH1_ENST00000518047.1_Silent_p.P1114P|DIAPH1_ENST00000253811.6_Silent_p.P1127P|DIAPH1_ENST00000389054.3_Silent_p.P1123P|DIAPH1_ENST00000389057.5_Silent_p.P1117P|DIAPH1_ENST00000398566.3_Silent_p.P1118P|DIAPH1_ENST00000520569.1_Silent_p.P1069P|DIAPH1_ENST00000494967.1_5'Flank|DIAPH1_ENST00000398562.2_Silent_p.P1102P	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	1126	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAACTTCTTGGGGTCAAAGA	0.428																																						ENST00000253811.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23						c.(3379-3381)ccC>ccT		diaphanous-related formin 1							82.0	77.0	78.0					5																	140905924		1880	4118	5998	SO:0001819	synonymous_variant	1729				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding	g.chr5:140905924G>A	BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"""diaphanous (Drosophila, homolog) 1"", ""diaphanous homolog 1 (Drosophila)"""	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.3378C>T	5.37:g.140905924G>A						DIAPH1_ENST00000520569.1_Silent_p.P1069P|DIAPH1_ENST00000389057.5_Silent_p.P1117P|DIAPH1_ENST00000518047.1_Silent_p.P1114P|DIAPH1_ENST00000389054.3_Silent_p.P1123P|DIAPH1_ENST00000398557.4_Silent_p.P1126P|DIAPH1_ENST00000398562.2_Silent_p.P1102P|DIAPH1_ENST00000398566.3_Silent_p.P1118P	p.P1127P			O60610	DIAP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		25	3521	-			1126			FH2.		A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Silent	SNP	ENST00000398557.4	37	c.3381C>T	CCDS43374.1																																																																																				0.428	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_005219		16	43	0	0	0	1	0	16	43				
JARID2	3720	broad.mit.edu	37	6	15501415	15501415	+	Silent	SNP	A	A	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr6:15501415A>T	ENST00000341776.2	+	8	2467	c.2223A>T	c.(2221-2223)acA>acT	p.T741T	JARID2_ENST00000397311.3_Silent_p.T569T|JARID2_ENST00000541660.1_Silent_p.T703T	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	741					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				AAGGCCACACAGAGAACGACC	0.642																																						ENST00000341776.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59						c.(2221-2223)acA>acT		jumonji, AT rich interactive domain 2							95.0	103.0	100.0					6																	15501415		2203	4300	6503	SO:0001819	synonymous_variant	3720				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	g.chr6:15501415A>T	U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.2223A>T	6.37:g.15501415A>T						JARID2_ENST00000541660.1_Silent_p.T703T|JARID2_ENST00000397311.3_Silent_p.T569T	p.T741T	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN			8	2467	+	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)	741					A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Silent	SNP	ENST00000341776.2	37	c.2223A>T	CCDS4533.1																																																																																				0.642	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973		51	162	0	0	0	1	0	51	162				
TJP1	7082	broad.mit.edu	37	15	30025364	30025364	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr15:30025364C>T	ENST00000346128.6	-	13	2144	c.1670G>A	c.(1669-1671)tGg>tAg	p.W557*	TJP1_ENST00000356107.6_Nonsense_Mutation_p.W557*|TJP1_ENST00000545208.2_Nonsense_Mutation_p.W557*|TJP1_ENST00000400011.2_Nonsense_Mutation_p.W561*	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	557	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		AATAGCAAGCCAAGAGCCCAG	0.388																																					Melanoma(77;681 1843 6309 6570)	ENST00000346128.6																			0				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68						c.(1669-1671)tGg>tAg		tight junction protein 1							149.0	132.0	137.0					15																	30025364		1870	4107	5977	SO:0001587	stop_gained	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:30025364C>T		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.1670G>A	15.37:g.30025364C>T	ENSP00000281537:p.Trp557*					TJP1_ENST00000400011.2_Nonsense_Mutation_p.W561*|TJP1_ENST00000545208.2_Nonsense_Mutation_p.W557*|TJP1_ENST00000356107.6_Nonsense_Mutation_p.W557*	p.W557*	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	13	2144	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	557			SH3.		B4E3K1|Q2NKP3|Q4ZGJ6	Nonsense_Mutation	SNP	ENST00000346128.6	37	c.1670G>A	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	C	39	7.359777	0.98235	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8339	0.96646	0.0:1.0:0.0:0.0	.	.	.	.	X	557;561;557;557;557	.	.	W	-	2	0	TJP1	27812656	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.751000	0.94390	0.655000	0.94253	TGG		0.388	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		10	54	0	0	0	1	0	10	54				
DNASE2B	58511	broad.mit.edu	37	1	84876670	84876670	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr1:84876670T>C	ENST00000370665.3	+	4	568	c.535T>C	c.(535-537)Tat>Cat	p.Y179H	DNASE2B_ENST00000370662.3_5'UTR	NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta	179					apoptotic DNA fragmentation (GO:0006309)	extracellular region (GO:0005576)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)			endometrium(1)|lung(4)|skin(1)	6				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		GTACAACCAGTATGAGGCAAT	0.368																																					Pancreas(54;788 1175 11852 16034 30034)	ENST00000370665.3																			0				endometrium(1)|lung(4)|skin(1)	6						c.(535-537)Tat>Cat		deoxyribonuclease II beta							69.0	63.0	65.0					1																	84876670		1877	4103	5980	SO:0001583	missense	58511				DNA metabolic process	lysosome	deoxyribonuclease II activity	g.chr1:84876670T>C	AF274571	CCDS694.1, CCDS44167.1	1p22.3	2008-02-05			ENSG00000137976	ENSG00000137976			28875	protein-coding gene	gene with protein product		608057				12594037, 11376952	Standard	NM_021233		Approved	DLAD	uc001djt.1	Q8WZ79	OTTHUMG00000009860	ENST00000370665.3:c.535T>C	1.37:g.84876670T>C	ENSP00000359699:p.Tyr179His					DNASE2B_ENST00000370662.3_5'UTR	p.Y179H	NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN		all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)	4	568	+			179					Q5VXD0|Q5VXD1|Q8WZ80|Q9NQW3	Missense_Mutation	SNP	ENST00000370665.3	37	c.535T>C	CCDS44167.1	.	.	.	.	.	.	.	.	.	.	T	18.67	3.673772	0.67928	.	.	ENSG00000137976	ENST00000370665	T	0.13901	2.55	5.34	5.34	0.76211	.	0.179595	0.48767	D	0.000178	T	0.18551	0.0445	L	0.57536	1.79	0.80722	D	1	D	0.62365	0.991	P	0.55011	0.766	T	0.00814	-1.1555	10	0.87932	D	0	-9.3009	15.3332	0.74231	0.0:0.0:0.0:1.0	.	179	Q8WZ79	DNS2B_HUMAN	H	179	ENSP00000359699:Y179H	ENSP00000359699:Y179H	Y	+	1	0	DNASE2B	84649258	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	5.434000	0.66526	2.025000	0.59659	0.383000	0.25322	TAT		0.368	DNASE2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027248.1	NM_021233		6	13	0	0	0	1	0	6	13				
ZNF681	148213	broad.mit.edu	37	19	23927979	23927979	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr19:23927979C>A	ENST00000402377.3	-	4	514	c.373G>T	c.(373-375)Gga>Tga	p.G125*	ZNF681_ENST00000395385.3_Nonsense_Mutation_p.G56*	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	125					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TTATAACCTCCTTTTTGCACT	0.294																																						ENST00000402377.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21						c.(373-375)Gga>Tga		zinc finger protein 681							59.0	57.0	58.0					19																	23927979		2202	4300	6502	SO:0001587	stop_gained	148213				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:23927979C>A	AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"""Zinc fingers, C2H2-type"", ""-"""	26457	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31526"""						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.373G>T	19.37:g.23927979C>A	ENSP00000384000:p.Gly125*					ZNF681_ENST00000395385.3_Nonsense_Mutation_p.G56*	p.G125*	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN			4	514	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	125					B3KVF7	Nonsense_Mutation	SNP	ENST00000402377.3	37	c.373G>T	CCDS12414.2	.	.	.	.	.	.	.	.	.	.	.	11.56	1.674220	0.29693	.	.	ENSG00000196172	ENST00000402377;ENST00000395385;ENST00000528059;ENST00000531570	.	.	.	1.23	1.23	0.21249	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	7.9364	0.29933	0.0:1.0:0.0:0.0	.	.	.	.	X	125;56;56;56	.	ENSP00000378783:G56X	G	-	1	0	ZNF681	23719819	0.001000	0.12720	0.028000	0.17463	0.033000	0.12548	-0.312000	0.08113	0.630000	0.30394	0.306000	0.20318	GGA		0.294	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320248.2	NM_138286		3	22	1	0	0.115264	1	0.11736	3	22				
OR9G4	283189	broad.mit.edu	37	11	56510610	56510610	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr11:56510610A>C	ENST00000302957.3	-	1	677	c.678T>G	c.(676-678)atT>atG	p.I226M		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	226						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GGATAGCAAGAATGCTGGAGA	0.488																																						ENST00000302957.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(676-678)atT>atG		olfactory receptor, family 9, subfamily G, member 4							107.0	98.0	101.0					11																	56510610		2201	4296	6497	SO:0001583	missense	283189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56510610A>C	BK004400	CCDS31537.1	11q11	2012-08-09			ENSG00000172457	ENSG00000172457		"""GPCR / Class A : Olfactory receptors"""	15322	protein-coding gene	gene with protein product							Standard	NM_001005284		Approved		uc010rjo.2	Q8NGQ1	OTTHUMG00000166932	ENST00000302957.3:c.678T>G	11.37:g.56510610A>C	ENSP00000307515:p.Ile226Met						p.I226M	NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN			1	677	-			226					Q6IF62|Q96RA9	Missense_Mutation	SNP	ENST00000302957.3	37	c.678T>G	CCDS31537.1	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506073	0.44558	.	.	ENSG00000172457	ENST00000302957	T	0.37584	1.19	5.07	-7.89	0.01174	GPCR, rhodopsin-like superfamily (1);	0.187093	0.25321	N	0.031513	T	0.22003	0.0530	N	0.17631	0.505	0.09310	N	1	P	0.51147	0.942	P	0.50490	0.642	T	0.28744	-1.0034	10	0.62326	D	0.03	-9.4573	6.3634	0.21441	0.3653:0.0:0.4167:0.2179	.	226	Q8NGQ1	OR9G4_HUMAN	M	226	ENSP00000307515:I226M	ENSP00000307515:I226M	I	-	3	3	OR9G4	56267186	0.000000	0.05858	0.334000	0.25495	0.680000	0.39746	-1.344000	0.02639	-1.249000	0.02500	-0.255000	0.11280	ATT		0.488	OR9G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391945.1	NM_001005284		12	42	0	0	0	1	0	12	42				
FAT1	2195	broad.mit.edu	37	4	187554873	187554873	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr4:187554873C>A	ENST00000441802.2	-	7	4497	c.4288G>T	c.(4288-4290)Gag>Tag	p.E1430*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1430	Cadherin 12. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCTGTAGCCTCGACTGTGAGG	0.463										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(4288-4290)Gag>Tag		FAT atypical cadherin 1							265.0	250.0	255.0					4																	187554873		1994	4173	6167	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187554873C>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.4288G>T	4.37:g.187554873C>A	ENSP00000406229:p.Glu1430*	HNSCC(5;0.00058)					p.E1430*	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			7	4497	-			1430			Cadherin 12.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.4288G>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	45	11.292727	0.99542	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.02	5.02	0.67125	.	0.164580	0.52532	D	0.000065	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	18.9077	0.92469	0.0:1.0:0.0:0.0	.	.	.	.	X	1430	.	ENSP00000260147:E1430X	E	-	1	0	FAT1	187791867	1.000000	0.71417	0.951000	0.38953	0.767000	0.43475	4.418000	0.59828	2.774000	0.95407	0.650000	0.86243	GAG		0.463	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		26	68	1	0	1.33986e-20	1	1.69565e-20	26	68				
THNSL2	55258	broad.mit.edu	37	2	88482302	88482302	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr2:88482302A>G	ENST00000324166.5	+	5	2578	c.887A>G	c.(886-888)cAg>cGg	p.Q296R	THNSL2_ENST00000343544.4_Missense_Mutation_p.Q296R|THNSL2_ENST00000377254.3_Missense_Mutation_p.Q296R|THNSL2_ENST00000402102.1_Missense_Mutation_p.Q296R|THNSL2_ENST00000449349.1_Intron|THNSL2_ENST00000358591.2_Missense_Mutation_p.Q296R|THNSL2_ENST00000496844.1_3'UTR	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	296					2-oxobutyrate biosynthetic process (GO:0046360)|dephosphorylation (GO:0016311)|serine family amino acid catabolic process (GO:0009071)	extracellular space (GO:0005615)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|serine binding (GO:0070905)			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						AGGACTGTCCAGCAGGGAGAC	0.537																																						ENST00000324166.5																			0				breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						c.(886-888)cAg>cGg		threonine synthase-like 2 (S. cerevisiae)							94.0	92.0	93.0					2																	88482302		2203	4300	6503	SO:0001583	missense	55258				threonine biosynthetic process		threonine synthase activity	g.chr2:88482302A>G		CCDS2002.2, CCDS58718.1, CCDS74539.1	2p11.2	2007-06-20			ENSG00000144115	ENSG00000144115			25602	protein-coding gene	gene with protein product		611261				17034760	Standard	NM_018271		Approved	FLJ10916	uc021vkr.1	Q86YJ6	OTTHUMG00000130314	ENST00000324166.5:c.887A>G	2.37:g.88482302A>G	ENSP00000327323:p.Gln296Arg					THNSL2_ENST00000402102.1_Missense_Mutation_p.Q296R|THNSL2_ENST00000496844.1_3'UTR|THNSL2_ENST00000377254.3_Missense_Mutation_p.Q296R|THNSL2_ENST00000358591.2_Missense_Mutation_p.Q296R|THNSL2_ENST00000449349.1_Intron|THNSL2_ENST00000343544.4_Missense_Mutation_p.Q296R	p.Q296R	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN			5	2578	+			296					B3KTB1|B5MDX8|B7WPF8|D9ZZB8|Q6P2M7|Q6PI27|Q9NV54	Missense_Mutation	SNP	ENST00000324166.5	37	c.887A>G	CCDS2002.2	.	.	.	.	.	.	.	.	.	.	A	9.444	1.088775	0.20390	.	.	ENSG00000144115	ENST00000358591;ENST00000377254;ENST00000402102;ENST00000544063;ENST00000343544;ENST00000324166	T;T;T;T;T	0.10763	2.84;2.84;2.84;2.84;2.84	5.81	2.14	0.27477	Threonine synthase (1);Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.359949	0.29403	N	0.012244	T	0.05364	0.0142	N	0.11560	0.145	0.09310	N	1	B;B;B	0.22851	0.02;0.02;0.076	B;B;B	0.21917	0.026;0.037;0.022	T	0.41034	-0.9531	10	0.24483	T	0.36	.	9.2389	0.37484	0.7905:0.0:0.2095:0.0	.	138;296;296	A8K0C1;Q86YJ6;Q86YJ6-2	.;THNS2_HUMAN;.	R	296;296;296;138;296;296	ENSP00000351402:Q296R;ENSP00000366464:Q296R;ENSP00000384475:Q296R;ENSP00000339563:Q296R;ENSP00000327323:Q296R	ENSP00000327323:Q296R	Q	+	2	0	THNSL2	88263417	0.868000	0.29978	0.474000	0.27266	0.893000	0.52053	3.487000	0.53222	0.480000	0.27534	-0.250000	0.11733	CAG		0.537	THNSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252662.1	NM_018271		4	74	0	0	0	1	0	4	74				
EPHA5	2044	broad.mit.edu	37	4	66467959	66467959	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr4:66467959C>A	ENST00000273854.3	-	3	910	c.310G>T	c.(310-312)Gtg>Ttg	p.V104L	EPHA5_ENST00000511294.1_Missense_Mutation_p.V104L|EPHA5_ENST00000354839.4_Missense_Mutation_p.V104L|EPHA5_ENST00000432638.2_Missense_Mutation_p.V104L	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	104	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TGTTCCATCACTTTGCATACT	0.378										TSP Lung(17;0.13)																												ENST00000273854.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						c.(310-312)Gtg>Ttg		EPH receptor A5							126.0	134.0	131.0					4																	66467959		2203	4300	6503	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66467959C>A	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.310G>T	4.37:g.66467959C>A	ENSP00000273854:p.Val104Leu	TSP Lung(17;0.13)				EPHA5_ENST00000432638.2_Missense_Mutation_p.V104L|EPHA5_ENST00000354839.4_Missense_Mutation_p.V104L|EPHA5_ENST00000511294.1_Missense_Mutation_p.V104L	p.V104L	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN			3	910	-			104					Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.310G>T	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.620109	0.87460	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.04049	3.72;3.72;3.72;3.72	5.68	5.68	0.88126	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.56097	D	0.000038	T	0.32585	0.0834	M	0.92970	3.365	0.80722	D	1	D;D;D;D	0.67145	0.996;0.989;0.996;0.991	D;D;D;D	0.87578	0.998;0.934;0.997;0.927	T	0.33828	-0.9853	10	0.87932	D	0	.	19.7821	0.96420	0.0:1.0:0.0:0.0	.	104;104;104;104	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	L	104	ENSP00000273854:V104L;ENSP00000389208:V104L;ENSP00000346899:V104L;ENSP00000427638:V104L	ENSP00000273854:V104L	V	-	1	0	EPHA5	66150554	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.818000	0.86416	2.682000	0.91365	0.655000	0.94253	GTG		0.378	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		26	71	1	0	8.16721e-17	1	1.02778e-16	26	71				
GOLGA8EP	390535	broad.mit.edu	37	15	23445456	23445456	+	RNA	SNP	G	G	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr15:23445456G>T	ENST00000526079.1	+	0	2276				RN7SL106P_ENST00000488468.2_RNA|AC100757.1_ENST00000458911.1_RNA	NR_027407.1|NR_033350.1				golgin A8 family, member E, pseudogene																		CAAGAAGAAGGAGATAAACAT	0.458																																						ENST00000526079.1																			0																				69.0	77.0	74.0					15																	23445456		2134	4213	6347			390535							g.chr15:23445456G>T			15q11.2	2014-03-21	2012-10-05	2012-10-05	ENSG00000175676	ENSG00000175676			32377	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8E"", ""golgin A8 family, member E"""	GOLGA8E		12477932	Standard	NR_033350		Approved		uc001yvu.3		OTTHUMG00000167132		15.37:g.23445456G>T								NR_027407.1|NR_033350.1						0	2276	+									RNA	SNP	ENST00000526079.1	37																																																																																						0.458	GOLGA8EP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000393312.1	NR_033350.1		18	109	1	0	3.5997e-14	1	4.45488e-14	18	109				
NSUN2	54888	broad.mit.edu	37	5	6620375	6620375	+	Missense_Mutation	SNP	C	C	A	rs146332265		TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr5:6620375C>A	ENST00000264670.6	-	7	970	c.659G>T	c.(658-660)cGc>cTc	p.R220L	NSUN2_ENST00000505264.1_5'UTR|NSUN2_ENST00000539938.1_5'UTR|NSUN2_ENST00000506139.1_Missense_Mutation_p.R185L	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	220					mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						CAGGTAGCAGCGCTTGTTGTC	0.502																																						ENST00000264670.6																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						c.(658-660)cGc>cTc		NOP2/Sun RNA methyltransferase family, member 2							99.0	98.0	99.0					5																	6620375		2203	4300	6503	SO:0001583	missense	54888					cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding	g.chr5:6620375C>A	AK000310	CCDS3869.1, CCDS54832.1	5p15.32	2014-01-31	2012-06-12		ENSG00000037474	ENSG00000037474		"""NOP2/Sun domain containing"""	25994	protein-coding gene	gene with protein product	"""tRNA methyltransferase 4 homolog (S. cerevisiae)"", ""Myc-induced SUN-domain-containing protein"""	610916	"""NOL1/NOP2/Sun domain family, member 2"", ""NOP2/Sun domain family, member 2"", ""mental retardation, non-syndromic, autosomal recessive, 5"""	MRT5		17071714, 22541559	Standard	NM_017755		Approved	FLJ20303, TRM4, Misu	uc003jdu.3	Q08J23	OTTHUMG00000090455	ENST00000264670.6:c.659G>T	5.37:g.6620375C>A	ENSP00000264670:p.Arg220Leu					NSUN2_ENST00000506139.1_Missense_Mutation_p.R185L|NSUN2_ENST00000539938.1_5'UTR|NSUN2_ENST00000505264.1_5'UTR	p.R220L	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN			7	970	-			220					A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Missense_Mutation	SNP	ENST00000264670.6	37	c.659G>T	CCDS3869.1	.	.	.	.	.	.	.	.	.	.	C	36	5.723784	0.96847	.	.	ENSG00000037474	ENST00000264670;ENST00000506139	T;T	0.71579	-0.57;-0.58	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.92047	0.7480	H	0.99404	4.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95030	0.8168	10	0.87932	D	0	-32.3743	20.0545	0.97645	0.0:1.0:0.0:0.0	.	185;220	B4DQW2;Q08J23	.;NSUN2_HUMAN	L	220;185	ENSP00000264670:R220L;ENSP00000420957:R185L	ENSP00000264670:R220L	R	-	2	0	NSUN2	6673375	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.366000	0.79548	2.748000	0.94277	0.655000	0.94253	CGC		0.502	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206902.1	NM_017755		27	80	1	0	3.65163e-15	1	4.56964e-15	27	80				
ATP8B4	79895	broad.mit.edu	37	15	50331023	50331023	+	Missense_Mutation	SNP	G	G	A	rs372854928		TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr15:50331023G>A	ENST00000284509.6	-	6	445	c.304C>T	c.(304-306)Cgc>Tgc	p.R102C	ATP8B4_ENST00000559829.1_Missense_Mutation_p.R102C|ATP8B4_ENST00000558959.1_5'UTR	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	102						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CTCTTGTGGCGAAACTGAAAA	0.363																																						ENST00000284509.6																			0				breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73						c.(304-306)Cgc>Tgc		ATPase, class I, type 8B, member 4		G	CYS/ARG	0,4392		0,0,2196	132.0	116.0	121.0		304	5.4	1.0	15		121	1,8587	1.2+/-3.3	0,1,4293	no	missense	ATP8B4	NM_024837.2	180	0,1,6489	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	102/1193	50331023	1,12979	2196	4294	6490	SO:0001583	missense	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50331023G>A	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.304C>T	15.37:g.50331023G>A	ENSP00000284509:p.Arg102Cys					ATP8B4_ENST00000559829.1_Missense_Mutation_p.R102C|ATP8B4_ENST00000558959.1_5'UTR	p.R102C	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	6	445	-		all_lung(180;0.00183)	102					Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	c.304C>T	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.348741	0.82132	0.0	1.16E-4	ENSG00000104043	ENST00000284509	D	0.85861	-2.04	5.39	5.39	0.77823	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.95787	0.8629	H	0.99058	4.415	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.97412	1.0003	10	0.87932	D	0	.	17.0049	0.86390	0.0:0.0:1.0:0.0	.	102	Q8TF62	AT8B4_HUMAN	C	102	ENSP00000284509:R102C	ENSP00000284509:R102C	R	-	1	0	ATP8B4	48118315	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.429000	0.80309	2.690000	0.91761	0.655000	0.94253	CGC		0.363	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		11	38	0	0	0	1	0	11	38				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			100294341							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		5	65	0	0	0	1	0	5	65				
MSH3	4437	broad.mit.edu	37	5	79952339	79952339	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr5:79952339C>T	ENST00000265081.6	+	2	427	c.347C>T	c.(346-348)tCt>tTt	p.S116F	DHFR_ENST00000505337.1_5'Flank|DHFR_ENST00000511032.1_5'Flank|DHFR_ENST00000513048.1_5'Flank|DHFR_ENST00000439211.2_5'Flank|DHFR_ENST00000504396.1_5'Flank	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	116	Interaction with EXO1.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		CTGGGAATGTCTGGCAACTCT	0.428								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)	ENST00000265081.6																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(346-348)tCt>tTt	Mismatch excision repair (MMR)	mutS homolog 3							110.0	116.0	114.0					5																	79952339		2203	4300	6503	SO:0001583	missense	4437				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding	g.chr5:79952339C>T	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.347C>T	5.37:g.79952339C>T	ENSP00000265081:p.Ser116Phe						p.S116F	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)	2	427	+		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)	116			Interaction with EXO1.		A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Missense_Mutation	SNP	ENST00000265081.6	37	c.347C>T	CCDS34195.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.014187	0.54468	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	D	0.87334	-2.24	4.61	3.72	0.42706	.	0.845491	0.10467	N	0.671304	T	0.82208	0.4987	L	0.48642	1.525	0.09310	N	1	P	0.37864	0.61	B	0.36808	0.233	T	0.72161	-0.4374	9	.	.	.	-0.6169	9.176	0.37112	0.0:0.8917:0.0:0.1083	.	116	P20585	MSH3_HUMAN	F	116;107	ENSP00000265081:S116F	.	S	+	2	0	MSH3	79988095	0.000000	0.05858	0.006000	0.13384	0.870000	0.49936	0.218000	0.17622	2.273000	0.75805	0.563000	0.77884	TCT		0.428	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439		11	46	0	0	0	1	0	11	46				
C1orf216	127703	broad.mit.edu	37	1	36181873	36181874	+	Frame_Shift_Ins	INS	-	-	C			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr1:36181873_36181874insC	ENST00000270815.4	-	2	819_820	c.49_50insG	c.(49-51)gacfs	p.D17fs	C1orf216_ENST00000503824.1_5'UTR	NM_152374.1	NP_689587.1	Q8TAB5	CA216_HUMAN	chromosome 1 open reading frame 216	17								p.D17Y(1)		kidney(2)|lung(3)|skin(2)|urinary_tract(1)	8		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				AGGAGGTGGGTCCCCCAGGAAT	0.574											OREG0013357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000270815.4																			1	Substitution - Missense(1)	p.D17Y(1)	lung(1)	kidney(2)|lung(3)|skin(2)|urinary_tract(1)	8						c.(49-51)cccfs		chromosome 1 open reading frame 216																																				SO:0001589	frameshift_variant	127703							g.chr1:36181873_36181874insC	AK096303	CCDS395.1	1p34.3	2007-08-10			ENSG00000142686	ENSG00000142686			26800	protein-coding gene	gene with protein product						12477932	Standard	NM_152374		Approved	FLJ38984	uc001bzh.1	Q8TAB5	OTTHUMG00000004167	ENST00000270815.4:c.50dupG	1.37:g.36181878_36181878dupC	ENSP00000425166:p.Asp17fs		OREG0013357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	861	C1orf216_ENST00000503824.1_5'UTR	p.P17fs	NM_152374.1	NP_689587.1	Q8TAB5	CA216_HUMAN			2	819_820	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)	17					D3DPS1|Q8N8N6	Frame_Shift_Ins	INS	ENST00000270815.4	37	c.49_50insG	CCDS395.1																																																																																				0.574	C1orf216-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012013.3	NM_152374		11	31						11	31	---	---	---	---
HFM1	164045	broad.mit.edu	37	1	91841183	91841183	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr1:91841183delG	ENST00000370425.3	-	12	1595	c.1497delC	c.(1495-1497)cccfs	p.P499fs	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Frame_Shift_Del_p.P178fs	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	499					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TACTACTGCAGGGAAATCCAA	0.413																																						ENST00000370425.3																			0				breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75						c.(1495-1497)ccfs		HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)							140.0	132.0	135.0					1																	91841183		1857	4094	5951	SO:0001589	frameshift_variant	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91841183delG	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.1497delC	1.37:g.91841183delG	ENSP00000359454:p.Pro499fs					HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Frame_Shift_Del_p.P178fs	p.P499fs	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	12	1595	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	499					B1B0B6|Q8N9Q0	Frame_Shift_Del	DEL	ENST00000370425.3	37	c.1497delC	CCDS30769.2																																																																																				0.413	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		15	79						15	79	---	---	---	---
CARF	79800	broad.mit.edu	37	2	203847093	203847106	+	Frame_Shift_Del	DEL	CTGTTCATCGGATT	CTGTTCATCGGATT	-	rs201292369		TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr2:203847093_203847106delCTGTTCATCGGATT	ENST00000402905.3	+	15	2309_2322	c.1988_2001delCTGTTCATCGGATT	c.(1987-2001)actgttcatcggattfs	p.TVHRI663fs	CARF_ENST00000545262.1_Frame_Shift_Del_p.TVHRI587fs|CARF_ENST00000320443.8_Frame_Shift_Del_p.TVHRI663fs|CARF_ENST00000414439.1_Frame_Shift_Del_p.TVHRI561fs|CARF_ENST00000438828.2_Frame_Shift_Del_p.TVHRI663fs|CARF_ENST00000428585.1_Frame_Shift_Del_p.TVHRI587fs|CARF_ENST00000545253.1_Frame_Shift_Del_p.TVHRI575fs|WDR12_ENST00000477723.1_Intron	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1	Q8N187	CARTF_HUMAN	calcium responsive transcription factor	663					cellular response to calcium ion (GO:0071277)|cellular response to potassium ion (GO:0035865)|positive regulation of transcription from RNA polymerase II promoter in response to calcium ion (GO:0061400)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|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 transcription factor activity (GO:0003700)										CTGGAAGGAACTGTTCATCGGATTCTGTTGGGAG	0.407																																						ENST00000320443.8																			0											c.(1987-2001)afs		calcium responsive transcription factor																																				SO:0001589	frameshift_variant	79800							g.chr2:203847093_203847106delCTGTTCATCGGATT	AB053309	CCDS42801.1, CCDS63091.1	2q33.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000138380	ENSG00000138380			14435	protein-coding gene	gene with protein product	"""calcium-response factor"""	607586	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8"""	ALS2CR8		11586298, 11832226	Standard	XM_005246858		Approved	FLJ21579, CaRF, NYD-SP24	uc002uzo.2	Q8N187	OTTHUMG00000154528	ENST00000402905.3:c.1988_2001delCTGTTCATCGGATT	2.37:g.203847093_203847106delCTGTTCATCGGATT	ENSP00000384006:p.Thr663fs					CARF_ENST00000545253.1_Frame_Shift_Del_p.TVHRI575fs|CARF_ENST00000545262.1_Frame_Shift_Del_p.TVHRI587fs|WDR12_ENST00000477723.1_Intron|CARF_ENST00000414439.1_Frame_Shift_Del_p.TVHRI561fs|CARF_ENST00000438828.2_Frame_Shift_Del_p.TVHRI663fs|CARF_ENST00000402905.2_Frame_Shift_Del_p.TVHRI663fs|CARF_ENST00000428585.1_Frame_Shift_Del_p.TVHRI587fs	p.TVHRI663fs							15	3031_3044	+								B4E1W7|G3V1K7|Q8ND29|Q8WXC0|Q96J78|Q96Q38|Q96Q39|Q9H712	Frame_Shift_Del	DEL	ENST00000402905.3	37	c.1988_2001delCTGTTCATCGGATT	CCDS42801.1																																																																																				0.407	CARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335768.5	NM_001104586		9	48						9	48	---	---	---	---
AC073321.4	0	broad.mit.edu	37	2	217475031	217475032	+	lincRNA	INS	-	-	AAA	rs71401156|rs59472818	byFrequency	TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr2:217475031_217475032insAAA	ENST00000441803.1	+	0	195																											AATTTTATTTCAAAAAAAAAAA	0.376																																						ENST00000441803.1																			0																																																			0							g.chr2:217475031_217475032insAAA																													2.37:g.217475038_217475040dupAAA														0	195	+									RNA	INS	ENST00000441803.1	37																																																																																						0.376	AC073321.4-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000339548.2			6	7						6	7	---	---	---	---
SH3BP5	9467	broad.mit.edu	37	3	15373833	15373835	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr3:15373833_15373835delTCC	ENST00000383791.3	-	1	301_303	c.81_83delGGA	c.(79-84)gaggaa>gaa	p.27_28EE>E	SH3BP5_ENST00000426925.1_Intron|SH3BP5_ENST00000408919.3_Intron|SH3BP5_ENST00000465894.2_Intron|SH3BP5_ENST00000253688.5_5'UTR	NM_004844.4	NP_004835.2	O60239	3BP5_HUMAN	SH3-domain binding protein 5 (BTK-associated)	27	Glu-rich.				intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	protein kinase inhibitor activity (GO:0004860)			NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						catcccctcttcctcctcctcct	0.719																																						ENST00000383791.3																			0				NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						c.(79-84)gaa>ga		SH3-domain binding protein 5 (BTK-associated)			,	55,4009		2,51,1979					,	1.1	0.1			22	132,7808		3,126,3841	no	coding,intron	SH3BP5	NM_004844.3,NM_001018009.2	,	5,177,5820	A1A1,A1R,RR		1.6625,1.3533,1.5578	,	,		187,11817				SO:0001651	inframe_deletion	9467				intracellular signal transduction	mitochondrion	protein kinase inhibitor activity|SH3 domain binding	g.chr3:15373833_15373835delTCC	AB005047	CCDS2625.2, CCDS43055.1	3p24.3	2008-07-10			ENSG00000131370	ENSG00000131370			10827	protein-coding gene	gene with protein product	"""SH3 binding protein"""	605612				9571151, 10339589	Standard	NM_004844		Approved	Sab	uc003bzp.2	O60239	OTTHUMG00000129859	ENST00000383791.3:c.81_83delGGA	3.37:g.15373842_15373844delTCC	ENSP00000373301:p.Glu29del					SH3BP5_ENST00000408919.3_Intron|SH3BP5_ENST00000253688.5_5'UTR|SH3BP5_ENST00000465894.2_Intron|SH3BP5_ENST00000426925.1_Intron	p.EE27del	NM_004844.4	NP_004835.2	O60239	3BP5_HUMAN			1	301_303	-			27			Glu-rich.		B3KQW6|Q5JWV9	In_Frame_Del	DEL	ENST00000383791.3	37	c.81_83delGGA	CCDS2625.2																																																																																				0.719	SH3BP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340740.2	NM_004844		4	5						4	5	---	---	---	---
LOC344967	344967	broad.mit.edu	37	4	40045668	40045668	+	RNA	DEL	C	C	-			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr4:40045668delC	ENST00000381811.2	-	0	481					NR_027277.1																						TCAGGATGGTCCCGCCTAGAC	0.612																																						ENST00000381811.2																			0																																																			344967							g.chr4:40045668delC																													4.37:g.40045668delC								NR_027277.1						0	481	-									RNA	DEL	ENST00000381811.2	37																																																																																						0.612	RP11-333E13.4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361278.1			2	4						2	4	---	---	---	---
PCDHB12	56124	broad.mit.edu	37	5	140590332	140590332	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr5:140590332delG	ENST00000239450.2	+	1	2042	c.1853delG	c.(1852-1854)tggfs	p.W618fs	PCDHB12_ENST00000541609.1_Frame_Shift_Del_p.W281fs	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	618	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCGGCGTGTGGGCGCACAAT	0.687																																						ENST00000239450.2																			0				NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83						c.(1852-1854)tgfs									9.0	11.0	10.0					5																	140590332		1682	3458	5140	SO:0001589	frameshift_variant	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140590332delG	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1853delG	5.37:g.140590332delG	ENSP00000239450:p.Trp618fs					PCDHB12_ENST00000541609.1_Frame_Shift_Del_p.W281fs	p.W618fs	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2042	+			618			Cadherin 6.		B4DDU1	Frame_Shift_Del	DEL	ENST00000239450.2	37	c.1853delG	CCDS4254.1																																																																																				0.687	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		9	142						9	142	---	---	---	---
PCDHGA8	9708	broad.mit.edu	37	5	140772972	140772972	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr5:140772972delC	ENST00000398604.2	+	1	592	c.592delC	c.(592-594)cgcfs	p.R198fs	PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	198	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGCTGGAGCGCGCCCTGGA	0.632																																						ENST00000398604.2																			0				endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(592-594)gcfs									44.0	50.0	48.0					5																	140772972		2174	4297	6471	SO:0001589	frameshift_variant	9708							g.chr5:140772972delC	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.592delC	5.37:g.140772972delC	ENSP00000381605:p.Arg198fs					PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron	p.R198fs	NM_032088.1	NP_114477.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	592	+								A7MCZ4|O15039	Frame_Shift_Del	DEL	ENST00000398604.2	37	c.592delC	CCDS47291.1																																																																																				0.632	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088		19	46						19	46	---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139397672	139397672	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr9:139397672delC	ENST00000277541.6	-	27	5204	c.5129delG	c.(5128-5130)ggcfs	p.G1710fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1710		Cleavage; by ADAM17. {ECO:0000250}.			anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTTGAGGCTGCCCAGCGAGGC	0.657			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(5128-5130)gcfs		notch 1							44.0	54.0	51.0					9																	139397672		2110	4232	6342	SO:0001589	frameshift_variant	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139397672delC	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.5129delG	9.37:g.139397672delC	ENSP00000277541:p.Gly1710fs	HNSCC(8;0.001)					p.G1710fs	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	27	5204	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1710					Q59ED8|Q5SXM3	Frame_Shift_Del	DEL	ENST00000277541.6	37	c.5129delG	CCDS43905.1																																																																																				0.657	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		21	28						21	28	---	---	---	---
RELA	5970	broad.mit.edu	37	11	65421910	65421911	+	Frame_Shift_Ins	INS	-	-	C			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr11:65421910_65421911insC	ENST00000406246.3	-	11	1855_1856	c.1594_1595insG	c.(1594-1596)gaafs	p.E532fs	RELA_ENST00000525693.1_3'UTR|RELA_ENST00000308639.9_Frame_Shift_Ins_p.E529fs	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	532					acetaldehyde metabolic process (GO:0006117)|aging (GO:0007568)|cellular defense response (GO:0006968)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|Fc-epsilon receptor signaling pathway (GO:0038095)|hair follicle development (GO:0001942)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|liver development (GO:0001889)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of Schwann cell differentiation (GO:0014040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to cobalamin (GO:0033590)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to interleukin-1 (GO:0070555)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to muramyl dipeptide (GO:0032495)|response to organic substance (GO:0010033)|response to progesterone (GO:0032570)|response to UV-B (GO:0010224)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phosphate ion binding (GO:0042301)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						GGAGAAGTCTTCATCTCCTGAA	0.639																																						ENST00000406246.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						c.(1594-1596)agafs		v-rel avian reticuloendotheliosis viral oncogene homolog A																																				SO:0001589	frameshift_variant	5970				anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding	g.chr11:65421910_65421911insC	Z22951	CCDS31609.1, CCDS44651.1, CCDS73322.1	11q13	2013-07-09	2013-07-09		ENSG00000173039	ENSG00000173039			9955	protein-coding gene	gene with protein product		164014	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells 3"""	NFKB3		2001591	Standard	NM_021975		Approved	p65	uc001ofg.3	Q04206	OTTHUMG00000166566	ENST00000406246.3:c.1595dupG	11.37:g.65421911_65421911dupC	ENSP00000384273:p.Glu532fs					RELA_ENST00000308639.9_Frame_Shift_Ins_p.R529fs|RELA_ENST00000525693.1_3'UTR	p.R532fs	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN			11	1855_1856	-			532					Q6GTV1|Q6SLK1	Frame_Shift_Ins	INS	ENST00000406246.3	37	c.1594_1595insG	CCDS31609.1																																																																																				0.639	RELA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390457.2	NM_021975		7	54						7	54	---	---	---	---
NCAPD2	9918	broad.mit.edu	37	12	6639104	6639104	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr12:6639104delG	ENST00000315579.5	+	29	4616	c.3817delG	c.(3817-3819)gggfs	p.G1273fs	RP5-940J5.3_ENST00000537921.1_RNA|NCAPD2_ENST00000545962.1_Frame_Shift_Del_p.G1228fs	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1273					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						GCTGCGACGTGGGGCCAAGCC	0.532																																						ENST00000315579.5																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						c.(3817-3819)ggfs		non-SMC condensin I complex, subunit D2							54.0	55.0	54.0					12																	6639104		2203	4300	6503	SO:0001589	frameshift_variant	9918				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding	g.chr12:6639104delG	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"""chromosome condensation related SMC associated protein 1"""	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.3817delG	12.37:g.6639104delG	ENSP00000325017:p.Gly1273fs					NCAPD2_ENST00000545962.1_Frame_Shift_Del_p.G1228fs	p.G1273fs	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN			29	4616	+			1273					D3DUR4|Q8N6U3	Frame_Shift_Del	DEL	ENST00000315579.5	37	c.3817delG	CCDS8548.1																																																																																				0.532	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	NM_014865		11	53						11	53	---	---	---	---
CYSLTR2	57105	broad.mit.edu	37	13	49281365	49281366	+	Frame_Shift_Ins	INS	-	-	T			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr13:49281365_49281366insT	ENST00000282018.3	+	1	415_416	c.412_413insT	c.(412-414)ctgfs	p.L138fs		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	138					immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell death (GO:0010942)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteinyl leukotriene receptor activity (GO:0001631)|leukotriene receptor activity (GO:0004974)			endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	TGTGCGTTTCCTGGCAATGGTT	0.47																																						ENST00000282018.3																			0				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20						c.(412-414)ggcfs		cysteinyl leukotriene receptor 2	Nedocromil(DB00716)																																			SO:0001589	frameshift_variant	57105				immune response	integral to membrane|plasma membrane		g.chr13:49281365_49281366insT	AB038269	CCDS9412.1	13q14.2	2012-08-10			ENSG00000152207	ENSG00000152207		"""GPCR / Class A : Leukotriene receptors"""	18274	protein-coding gene	gene with protein product		605666				10913337, 1085123	Standard	NM_020377		Approved	CysLT(2), CYSLT2R	uc001vck.2	Q9NS75	OTTHUMG00000016906	ENST00000282018.3:c.413dupT	13.37:g.49281366_49281366dupT	ENSP00000282018:p.Leu138fs						p.G138fs	NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN		GBM - Glioblastoma multiforme(99;1.19e-09)	1	415_416	+		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)	138					Q9HCQ2	Frame_Shift_Ins	INS	ENST00000282018.3	37	c.412_413insT	CCDS9412.1																																																																																				0.470	CYSLTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044894.1			17	112						17	112	---	---	---	---
OR4K17	390436	broad.mit.edu	37	14	20585576	20585577	+	Frame_Shift_Ins	INS	-	-	C			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr14:20585576_20585577insC	ENST00000315543.4	+	1	11_12	c.11_12insC	c.(10-15)tattttfs	p.YF4fs		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	0						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		ATGGCTCTTTATTTTTCACTCA	0.361																																						ENST00000315543.4																			0				kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21						c.(10-12)tttfs		olfactory receptor, family 4, subfamily K, member 17																																				SO:0001589	frameshift_variant	390436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20585576_20585577insC		CCDS32030.1	14q11.2	2013-09-23			ENSG00000176230	ENSG00000176230		"""GPCR / Class A : Olfactory receptors"""	15355	protein-coding gene	gene with protein product							Standard	NM_001004715		Approved		uc001vwo.1	Q8NGC6	OTTHUMG00000170783	Exception_encountered	14.37:g.20585576_20585577insC	ENSP00000319197:p.Tyr4fs						p.F4fs	NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)	1	11_12	+	all_cancers(95;0.00108)		0					Q6IF12	Frame_Shift_Ins	INS	ENST00000315543.4	37	c.11_12insC	CCDS32030.1																																																																																				0.361	OR4K17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410346.1			13	26						13	26	---	---	---	---
STOML1	9399	broad.mit.edu	37	15	74281125	74281125	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr15:74281125delC	ENST00000316900.5	-	4	533	c.409delG	c.(409-411)gctfs	p.A137fs	STOML1_ENST00000359750.4_Frame_Shift_Del_p.A137fs|STOML1_ENST00000541638.1_Frame_Shift_Del_p.A95fs|STOML1_ENST00000316911.6_Frame_Shift_Del_p.A87fs|STOML1_ENST00000561656.1_Frame_Shift_Del_p.A50fs|STOML1_ENST00000564777.1_Frame_Shift_Del_p.A87fs	NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4	NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2	Q9UBI4	STML1_HUMAN	stomatin (EPB72)-like 1	137						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						GACAGCACAGCCCCGTCCTTA	0.632																																						ENST00000316900.5																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						c.(409-411)ctfs		stomatin (EPB72)-like 1							82.0	78.0	79.0					15																	74281125		2198	4297	6495	SO:0001589	frameshift_variant	9399					integral to membrane	sterol binding	g.chr15:74281125delC	Y16522	CCDS10254.1, CCDS58381.1, CCDS58382.1, CCDS58383.1, CCDS58384.1, CCDS58385.1	15q24-q25	2008-07-18			ENSG00000067221	ENSG00000067221			14560	protein-coding gene	gene with protein product	"""stomatin-like 1"", ""stomatin (EBP72)-like 1"""	608326				9931417	Standard	NM_004809		Approved	hUNC-24, SLP-1, STORP, FLJ36370	uc002awe.4	Q9UBI4	OTTHUMG00000137608	ENST00000316900.5:c.409delG	15.37:g.74281125delC	ENSP00000319323:p.Ala137fs					STOML1_ENST00000561656.1_Frame_Shift_Del_p.A50fs|STOML1_ENST00000359750.4_Frame_Shift_Del_p.A137fs|STOML1_ENST00000316911.6_Frame_Shift_Del_p.A87fs|STOML1_ENST00000564777.1_Frame_Shift_Del_p.A87fs|STOML1_ENST00000541638.1_Frame_Shift_Del_p.A95fs	p.A137fs	NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4	NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2	Q9UBI4	STML1_HUMAN			4	533	-			137					B3KQN0|B4DUU5|B4DXM9|E7ESC0|H3BRP3|O95675|Q4PNR4|Q6FGL8|Q8WYI7|Q9UMB9|Q9UMC0|Q9Y6H9	Frame_Shift_Del	DEL	ENST00000316900.5	37	c.409delG	CCDS10254.1																																																																																				0.632	STOML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269022.1	NM_004809		15	93						15	93	---	---	---	---
RP11-51O6.1	0	broad.mit.edu	37	16	61089302	61089302	+	RNA	DEL	C	C	-	rs567241949|rs56076856|rs371501468|rs61593494|rs201948984|rs78942570|rs572952892	byFrequency	TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr16:61089302delC	ENST00000591758.1	-	0	566																											GCttcttcttctttttttttt	0.244																																						ENST00000591758.1																			0																																																			0							g.chr16:61089302delC																													16.37:g.61089302delC														0	566	-									RNA	DEL	ENST00000591758.1	37																																																																																						0.244	RP11-51O6.1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000460612.1			7	16						7	16	---	---	---	---
DNAJB7	150353	broad.mit.edu	37	22	41257531	41257531	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chr22:41257531delT	ENST00000307221.4	-	1	599	c.468delA	c.(466-468)ggafs	p.G156fs	XPNPEP3_ENST00000482652.1_Intron|XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000544094.1_5'Flank|XPNPEP3_ENST00000357137.4_Intron	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	156							chaperone binding (GO:0051087)			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						GTGATGTATATCCTGTATCAT	0.393																																						ENST00000307221.4																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(466-468)ggfs		DnaJ (Hsp40) homolog, subfamily B, member 7							86.0	89.0	88.0					22																	41257531		2203	4300	6503	SO:0001589	frameshift_variant	150353				protein folding		heat shock protein binding|unfolded protein binding	g.chr22:41257531delT	AF085232	CCDS14008.1	22q13.2	2011-09-02			ENSG00000172404	ENSG00000172404		"""Heat shock proteins / DNAJ (HSP40)"""	24986	protein-coding gene	gene with protein product		611336				12477932	Standard	NM_145174		Approved	HSC3	uc003azj.3	Q7Z6W7	OTTHUMG00000151202	ENST00000307221.4:c.468delA	22.37:g.41257531delT	ENSP00000307197:p.Gly156fs					XPNPEP3_ENST00000482652.1_Intron|XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000541156.1_Intron	p.G156fs	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN			1	599	-			156					Q2M220|Q5H904|Q8WYJ7	Frame_Shift_Del	DEL	ENST00000307221.4	37	c.468delA	CCDS14008.1																																																																																				0.393	DNAJB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321765.1	NM_145174		15	52						15	52	---	---	---	---
USP9X	8239	broad.mit.edu	37	X	41073879	41073879	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D6-A6EK-01A-11D-A31L-08	TCGA-D6-A6EK-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c360fffa-f19a-4a7e-bce4-960421c65939	a028c0fd-8b5f-4788-905e-d90e3ab8e87b	g.chrX:41073879delC	ENST00000324545.8	+	34	5881	c.5248delC	c.(5248-5250)cttfs	p.L1751fs	USP9X_ENST00000378308.2_Frame_Shift_Del_p.L1751fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1751	USP.				axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TCACCAAAATCTTCTTGATTC	0.333																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(5248-5250)ttfs		ubiquitin specific peptidase 9, X-linked							59.0	60.0	60.0					X																	41073879		2168	4281	6449	SO:0001589	frameshift_variant	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41073879delC	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.5248delC	X.37:g.41073879delC	ENSP00000316357:p.Leu1751fs					USP9X_ENST00000378308.2_Frame_Shift_Del_p.L1751fs	p.L1751fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			34	5881	+			1751					O75550|Q8WWT3|Q8WX12	Frame_Shift_Del	DEL	ENST00000324545.8	37	c.5248delC	CCDS43930.1																																																																																				0.333	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		17	19						17	19	---	---	---	---
