#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
PPM1B	5495	broad.mit.edu	37	2	44428625	44428625	+	Missense_Mutation	SNP	A	A	T			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr2:44428625A>T	ENST00000282412.4	+	2	699	c.287A>T	c.(286-288)gAg>gTg	p.E96V	PPM1B_ENST00000345249.4_Intron|PPM1B_ENST00000409432.3_Missense_Mutation_p.E96V|PPM1B_ENST00000409895.4_Missense_Mutation_p.E96V|PPM1B_ENST00000378551.2_Missense_Mutation_p.E96V|PPM1B_ENST00000378540.4_3'UTR	NM_002706.4	NP_002697.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B	96					cytokine-mediated signaling pathway (GO:0019221)|N-terminal protein myristoylation (GO:0006499)|negative regulation of defense response to virus (GO:0050687)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TCTGCTCTTGAGCTTTCAGTG	0.408																																						ENST00000378551.2																			0				kidney(4)|large_intestine(3)|lung(7)|skin(2)	16						c.(286-288)gAg>gTg		protein phosphatase, Mg2+/Mn2+ dependent, 1B							94.0	95.0	95.0					2																	44428625		2203	4300	6503	SO:0001583	missense	5495				protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr2:44428625A>T	AJ005801	CCDS1816.1, CCDS1817.1, CCDS1818.1, CCDS46271.1	2p22.1	2012-04-17	2010-03-05		ENSG00000138032	ENSG00000138032	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9276	protein-coding gene	gene with protein product	"""protein phosphatase 2C, beta isoform"""	603770	"""protein phosphatase 1B (formerly 2C), magnesium-dependent, beta isoform"""			9684878	Standard	NM_002706		Approved	PPC2BETAX, PP2CB, PP2CBETA	uc002rtt.3	O75688	OTTHUMG00000128757	ENST00000282412.4:c.287A>T	2.37:g.44428625A>T	ENSP00000282412:p.Glu96Val					PPM1B_ENST00000282412.4_Missense_Mutation_p.E96V|PPM1B_ENST00000345249.4_Intron|PPM1B_ENST00000378540.4_3'UTR|PPM1B_ENST00000409895.4_Missense_Mutation_p.E96V|PPM1B_ENST00000409432.3_Missense_Mutation_p.E96V	p.E96V	NM_177968.2	NP_808907.1	O75688	PPM1B_HUMAN			2	699	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	96					Q461Q2|Q4J6C1|Q4J6C2|Q658R4|Q96ER6|Q9HAY8	Missense_Mutation	SNP	ENST00000282412.4	37	c.287A>T	CCDS1817.1	.	.	.	.	.	.	.	.	.	.	A	16.94	3.260655	0.59431	.	.	ENSG00000138032	ENST00000419807;ENST00000409895;ENST00000409432;ENST00000282412;ENST00000378551;ENST00000409473	T;T;T;T;T;T	0.09630	2.96;2.96;2.96;2.96;2.96;2.96	5.82	3.31	0.37934	Protein phosphatase 2C-like (5);	0.310256	0.39687	N	0.001293	T	0.08403	0.0209	N	0.10760	0.04	0.43494	D	0.995739	B;B;B;B;B	0.30973	0.007;0.001;0.302;0.0;0.172	B;B;B;B;B	0.42593	0.053;0.007;0.392;0.005;0.392	T	0.36383	-0.9750	10	0.49607	T	0.09	-10.7618	9.2259	0.37407	0.7491:0.1285:0.0:0.1224	.	96;96;96;96;96	Q4J6C0;O75688-2;Q4J6C1;O75688;Q4J6C2	.;.;.;PPM1B_HUMAN;.	V	96	ENSP00000390087:E96V;ENSP00000387341:E96V;ENSP00000387287:E96V;ENSP00000282412:E96V;ENSP00000367813:E96V;ENSP00000386982:E96V	ENSP00000282412:E96V	E	+	2	0	PPM1B	44282129	1.000000	0.71417	0.968000	0.41197	0.998000	0.95712	3.544000	0.53640	1.006000	0.39211	0.533000	0.62120	GAG		0.408	PPM1B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250672.1	NM_002706		37	40	0	0	0	1	0	37	40				
SCP2D1	140856	broad.mit.edu	37	20	18794772	18794772	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr20:18794772G>T	ENST00000377428.2	+	1	403	c.313G>T	c.(313-315)Gac>Tac	p.D105Y	C20orf78_ENST00000463425.1_5'Flank|C20orf78_ENST00000278779.4_Intron	NM_178483.2	NP_848578.1	Q9UJQ7	SCP2D_HUMAN	SCP2 sterol-binding domain containing 1	105	SCP2.																GCTCCCAGCAGACACTGTCTT	0.507																																						ENST00000377428.2																			0											c.(313-315)Gac>Tac		SCP2 sterol-binding domain containing 1							63.0	67.0	66.0					20																	18794772		2203	4300	6503	SO:0001583	missense	140856							g.chr20:18794772G>T	AL035563	CCDS13139.1	20p11.23	2012-10-29	2012-10-29	2012-10-29	ENSG00000132631	ENSG00000132631			16211	protein-coding gene	gene with protein product	"""sterol carrier protein 2-like protein"""		"""chromosome 20 open reading frame 79"""	C20orf79		16501878	Standard	NM_178483		Approved	dJ1068E13.2, HSD22	uc002wrk.3	Q9UJQ7	OTTHUMG00000031983	ENST00000377428.2:c.313G>T	20.37:g.18794772G>T	ENSP00000366645:p.Asp105Tyr					C20orf78_ENST00000278779.4_Intron	p.D105Y	NM_178483.2	NP_848578.1					1	403	+								Q548A4	Missense_Mutation	SNP	ENST00000377428.2	37	c.313G>T	CCDS13139.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.062377	0.76187	.	.	ENSG00000132631	ENST00000377428	T	0.36157	1.27	6.08	6.08	0.98989	SCP2 sterol-binding domain (2);	0.000000	0.64402	D	0.000002	T	0.72162	0.3426	H	0.94542	3.55	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79176	-0.1911	10	0.87932	D	0	-25.7139	18.1659	0.89727	0.0:0.0:1.0:0.0	.	105	Q9UJQ7	CT079_HUMAN	Y	105	ENSP00000366645:D105Y	ENSP00000366645:D105Y	D	+	1	0	C20orf79	18742772	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	5.117000	0.64667	2.894000	0.99253	0.591000	0.81541	GAC		0.507	SCP2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078193.1	NM_178483		15	26	1	0	2.62699e-14	1	2.78461e-14	15	26				
UBBP4	23666	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs375625296		TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr17:21731144T>G	ENST00000578713.1	+	1	450	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584755.1_Missense_Mutation_p.L149R					ubiquitin B pseudogene 4									p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542																																						ENST00000584755.1																			18	Substitution - Missense(18)	p.L149R(18)	endometrium(12)|prostate(6)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(445-447)cTg>cGg																																						SO:0001583	missense	0							g.chr17:21731144T>G	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.446T>G	17.37:g.21731144T>G	ENSP00000464265:p.Leu149Arg					UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000583708.1_3'UTR	p.L149R							2	843	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.446T>G																																																																																					0.542	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			5	64	0	0	0	1	0	5	64				
FCGBP	8857	broad.mit.edu	37	19	40367841	40367841	+	Silent	SNP	T	T	G			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr19:40367841T>G	ENST00000221347.6	-	29	13126	c.13119A>C	c.(13117-13119)gcA>gcC	p.A4373A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4373	TIL 10.					extracellular vesicular exosome (GO:0070062)		p.A4373A(2)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCGTAAGGGGTGCAGGGGACG	0.627																																						ENST00000221347.6																			2	Substitution - coding silent(2)	p.A4373A(2)	lung(1)|kidney(1)	NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(13117-13119)gcA>gcC		Fc fragment of IgG binding protein							17.0	32.0	27.0					19																	40367841		2132	4018	6150	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40367841T>G	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.13119A>C	19.37:g.40367841T>G							p.A4373A	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		29	13126	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4373			TIL 10.		O95784	Silent	SNP	ENST00000221347.6	37	c.13119A>C	CCDS12546.1																																																																																				0.627	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		8	16	0	0	0	1	0	8	16				
GLB1	2720	broad.mit.edu	37	3	33109728	33109728	+	Missense_Mutation	SNP	C	C	T	rs375582374		TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr3:33109728C>T	ENST00000399402.3	-	4	492	c.361G>A	c.(361-363)Gac>Aac	p.D121N	GLB1_ENST00000307377.8_Intron|GLB1_ENST00000307363.5_Missense_Mutation_p.D151N|GLB1_ENST00000445488.2_Missense_Mutation_p.D199N	NM_001079811.1	NP_001073279	P16278	BGAL_HUMAN	galactosidase, beta 1	151			R -> S (in GM1G1). {ECO:0000269|PubMed:10338095}.		carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)	beta-galactosidase activity (GO:0004565)|galactoside binding (GO:0016936)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				CTACCTGGGTCGGAGGAGCGG	0.488																																						ENST00000307363.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21	GRCh37	CM042715	GLB1	M		c.(451-453)Gac>Aac		galactosidase, beta 1		C	ASN/ASP,ASN/ASP,	0,3726		0,0,1863	85.0	85.0	85.0		451,361,	5.3	1.0	3		85	1,8187		0,1,4093	no	missense,missense,intron	GLB1	NM_000404.2,NM_001079811.1,NM_001135602.1	23,23,	0,1,5956	TT,TC,CC		0.0122,0.0,0.0084	probably-damaging,probably-damaging,	151/678,121/648,	33109728	1,11913	1863	4094	5957	SO:0001583	missense	2720				carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding	g.chr3:33109728C>T	M22590	CCDS43061.1, CCDS43062.1, CCDS46785.1	3p22.3	2012-10-02			ENSG00000170266	ENSG00000170266	3.2.1.23		4298	protein-coding gene	gene with protein product		611458	"""elastin receptor 1, 67kDa"", ""elastin receptor 1 (67kD)"""	ELNR1		110522, 3143362	Standard	NM_000404		Approved	EBP	uc003cfi.1	P16278	OTTHUMG00000155781	ENST00000399402.3:c.361G>A	3.37:g.33109728C>T	ENSP00000382333:p.Asp121Asn					GLB1_ENST00000307377.8_Intron|GLB1_ENST00000399402.3_Missense_Mutation_p.D121N|GLB1_ENST00000445488.2_Missense_Mutation_p.D199N	p.D151N	NM_000404.2	NP_000395.2	P16278	BGAL_HUMAN			4	595	-		Melanoma(143;0.104)	151		D -> V (in GM1G1).|D -> Y (in GM1G1; complete lack of protein; no enzymatic activity).			B2R7H8|B7Z6B0|P16279	Missense_Mutation	SNP	ENST00000399402.3	37	c.451G>A	CCDS43062.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.502184	0.85176	0.0	1.22E-4	ENSG00000170266	ENST00000399402;ENST00000307363;ENST00000445488;ENST00000440656	D;D;D;D	0.98028	-4.67;-4.67;-4.67;-4.67	5.26	5.26	0.73747	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.097894	0.64402	D	0.000001	D	0.97971	0.9332	L	0.52759	1.655	0.80722	D	1	D;D;D	0.69078	0.994;0.994;0.997	P;P;D	0.62955	0.842;0.842;0.909	D	0.98917	1.0782	10	0.62326	D	0.03	-26.0556	18.4594	0.90734	0.0:1.0:0.0:0.0	.	151;151;199	Q53G40;P16278;B7Z6Q5	.;BGAL_HUMAN;.	N	121;151;199;20	ENSP00000382333:D121N;ENSP00000306920:D151N;ENSP00000393377:D199N;ENSP00000411769:D20N	ENSP00000306920:D151N	D	-	1	0	GLB1	33084732	1.000000	0.71417	1.000000	0.80357	0.204000	0.24138	7.164000	0.77533	2.458000	0.83093	0.591000	0.81541	GAC		0.488	GLB1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000341570.2	NM_000404		27	36	0	0	0	1	0	27	36				
PTPRD	5789	broad.mit.edu	37	9	8521487	8521487	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr9:8521487C>T	ENST00000381196.4	-	17	1294	c.751G>A	c.(751-753)Gga>Aga	p.G251R	PTPRD_ENST00000356435.5_Missense_Mutation_p.G251R|PTPRD_ENST00000397611.3_Missense_Mutation_p.G248R|PTPRD_ENST00000537002.1_Missense_Mutation_p.G248R|PTPRD_ENST00000360074.4_Missense_Mutation_p.G238R|PTPRD_ENST00000358503.5_Missense_Mutation_p.G238R|PTPRD_ENST00000355233.5_Missense_Mutation_p.G251R|PTPRD_ENST00000486161.1_Missense_Mutation_p.G251R|PTPRD_ENST00000397606.3_Missense_Mutation_p.G241R|PTPRD_ENST00000397617.3_Missense_Mutation_p.G241R|PTPRD_ENST00000540109.1_Missense_Mutation_p.G251R	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	251	Ig-like C2-type 3.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTAACGCTTCCGCCTGGCATG	0.468										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(751-753)Gga>Aga		protein tyrosine phosphatase, receptor type, D							127.0	108.0	115.0					9																	8521487		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8521487C>T	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.751G>A	9.37:g.8521487C>T	ENSP00000370593:p.Gly251Arg	TSP Lung(15;0.13)				PTPRD_ENST00000397606.3_Missense_Mutation_p.G241R|PTPRD_ENST00000397611.3_Missense_Mutation_p.G248R|PTPRD_ENST00000397617.3_Missense_Mutation_p.G241R|PTPRD_ENST00000540109.1_Missense_Mutation_p.G251R|PTPRD_ENST00000360074.4_Missense_Mutation_p.G238R|PTPRD_ENST00000537002.1_Missense_Mutation_p.G248R|PTPRD_ENST00000358503.5_Missense_Mutation_p.G238R|PTPRD_ENST00000486161.1_Missense_Mutation_p.G251R|PTPRD_ENST00000356435.5_Missense_Mutation_p.G251R|PTPRD_ENST00000355233.5_Missense_Mutation_p.G251R	p.G251R	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	17	1294	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	251			Ig-like C2-type 3.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.751G>A	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.215719	0.79352	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.39787	1.6;1.6;1.6;1.6;1.06;1.06;1.06;1.06;1.6;1.06;1.06	5.68	5.68	0.88126	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.63248	0.2495	L	0.60957	1.885	0.80722	D	1	D;D;D;P;P;P;D;D;D	0.89917	0.994;0.988;0.999;0.927;0.933;0.918;0.981;1.0;0.985	P;P;D;P;B;P;P;D;P	0.87578	0.867;0.843;0.951;0.468;0.156;0.488;0.666;0.998;0.665	T	0.58912	-0.7552	9	.	.	.	.	19.7917	0.96461	0.0:1.0:0.0:0.0	.	241;245;251;251;248;248;238;251;251	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	R	251;251;238;238;251;241;248;248;251;251;251;241	ENSP00000370593:G251R;ENSP00000348812:G251R;ENSP00000353187:G238R;ENSP00000351293:G238R;ENSP00000347373:G251R;ENSP00000380741:G241R;ENSP00000380735:G248R;ENSP00000440515:G248R;ENSP00000438164:G251R;ENSP00000417093:G251R;ENSP00000380731:G241R	.	G	-	1	0	PTPRD	8511487	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.770000	0.85390	2.688000	0.91661	0.563000	0.77884	GGA		0.468	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			22	10	0	0	0	1	0	22	10				
KDM5C	8242	broad.mit.edu	37	X	53226063	53226063	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chrX:53226063C>T	ENST00000375401.3	-	19	3318	c.2786G>A	c.(2785-2787)cGa>cAa	p.R929Q	KDM5C_ENST00000404049.3_Missense_Mutation_p.R928Q|KDM5C_ENST00000375383.3_Missense_Mutation_p.R888Q|KDM5C_ENST00000452825.3_Missense_Mutation_p.R862Q|KDM5C_ENST00000375379.3_Missense_Mutation_p.R929Q	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	929					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|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)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						ATCCAGCCATCGCGCCTGTTC	0.672			"""N, F, S"""		clear cell renal carcinoma																																	ENST00000452825.3				Rec	yes		X	Xp11.22-p11.21	8242	"""N, F, S"""	lysine (K)-specific demethylase 5C (JARID1C)			E			clear cell renal carcinoma		0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						c.(2584-2586)cGa>cAa		lysine (K)-specific demethylase 5C							33.0	30.0	31.0					X																	53226063		2197	4296	6493	SO:0001583	missense	8242				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chrX:53226063C>T	Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11114	protein-coding gene	gene with protein product		314690	"""Jumonji, AT rich interactive domain 1C (RBP2-like)"", ""Smcy homolog, X-linked (mouse)"", ""jumonji, AT rich interactive domain 1C"", ""mental retardation, X-linked 13"""	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.2786G>A	X.37:g.53226063C>T	ENSP00000364550:p.Arg929Gln					KDM5C_ENST00000375401.3_Missense_Mutation_p.R929Q|KDM5C_ENST00000404049.3_Missense_Mutation_p.R928Q|KDM5C_ENST00000375379.3_Missense_Mutation_p.R929Q|KDM5C_ENST00000375383.3_Missense_Mutation_p.R888Q	p.R862Q	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN			17	3117	-			929					B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	ENST00000375401.3	37	c.2585G>A	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.106561	0.37145	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	4.44	-0.0947	0.13643	Lysine-specific demethylase-like domain (1);	0.483430	0.21970	N	0.066469	T	0.23410	0.0566	N	0.21448	0.665	0.27914	N	0.938499	B;B;B	0.20988	0.05;0.025;0.025	B;B;B	0.13407	0.009;0.009;0.009	T	0.14309	-1.0477	10	0.26408	T	0.33	-0.0759	8.2409	0.31660	0.0:0.4555:0.0:0.5445	.	862;928;929	F5H3T1;B0QZ44;P41229	.;.;KDM5C_HUMAN	Q	862;929;928;929;888	ENSP00000445176:R862Q;ENSP00000364550:R929Q;ENSP00000385394:R928Q;ENSP00000364528:R929Q;ENSP00000364532:R888Q	ENSP00000364528:R929Q	R	-	2	0	KDM5C	53242788	0.028000	0.19301	0.546000	0.28166	0.936000	0.57629	0.241000	0.18065	-0.054000	0.13266	-0.215000	0.12644	CGA		0.672	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		5	10	0	0	0	1	0	5	10				
KRTAP21-1	337977	broad.mit.edu	37	21	32127495	32127495	+	Missense_Mutation	SNP	G	G	A	rs557551233	byFrequency	TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr21:32127495G>A	ENST00000335093.3	-	1	251	c.202C>T	c.(202-204)Cgg>Tgg	p.R68W		NM_181619.1	NP_853650.1	Q3LI58	KR211_HUMAN	keratin associated protein 21-1	68						intermediate filament (GO:0005882)				breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7						CAAAATGGCCGGTAGCCACAG	0.478													G|||	4	0.000798722	0.0	0.0	5008	,	,		18297	0.001		0.0	False		,,,				2504	0.0031					ENST00000335093.3																			0				breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7						c.(202-204)Cgg>Tgg		keratin associated protein 21-1							101.0	102.0	102.0					21																	32127495		2201	4295	6496	SO:0001583	missense	337977					intermediate filament		g.chr21:32127495G>A	AP001709	CCDS13606.1	21q22.1	2006-03-13			ENSG00000187005	ENSG00000187005		"""Keratin associated proteins"""	18945	protein-coding gene	gene with protein product						12359730	Standard	NM_181619		Approved	KAP21.1	uc011adi.2	Q3LI58	OTTHUMG00000057777	ENST00000335093.3:c.202C>T	21.37:g.32127495G>A	ENSP00000335566:p.Arg68Trp						p.R68W	NM_181619.1	NP_853650.1	Q3LI58	KR211_HUMAN			1	251	-			68						Missense_Mutation	SNP	ENST00000335093.3	37	c.202C>T	CCDS13606.1	.	.	.	.	.	.	.	.	.	.	G	2.047	-0.418684	0.04766	.	.	ENSG00000187005	ENST00000335093	.	.	.	4.67	-8.36	0.00980	.	.	.	.	.	T	0.21718	0.0523	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.22243	-1.0222	7	0.52906	T	0.07	.	2.0861	0.03646	0.217:0.1042:0.1765:0.5023	.	68	Q3LI58	KR211_HUMAN	W	68	.	ENSP00000335566:R68W	R	-	1	2	KRTAP21-1	31049366	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-2.126000	0.01316	-2.084000	0.00866	-0.195000	0.12781	CGG		0.478	KRTAP21-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128229.2			10	198	0	0	0	1	0	10	198				
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T	rs201788045		TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358																																						ENST00000358970.5																			12	Substitution - Missense(12)	p.R477Q(12)	endometrium(4)|kidney(3)|urinary_tract(2)|prostate(2)|soft_tissue(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1429-1431)cGg>cAg		POTE ankyrin domain family, member C							13.0	9.0	10.0					18																	14513764		683	1543	2226	SO:0001583	missense	388468							g.chr18:14513764C>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1430G>A	18.37:g.14513764C>T	ENSP00000351856:p.Arg477Gln						p.R477Q	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			10	1429	-			477						Missense_Mutation	SNP	ENST00000358970.5	37	c.1430G>A	CCDS45835.1	492	0.22527472527472528	61	0.12398373983739837	82	0.2265193370165746	187	0.3269230769230769	162	0.21372031662269128	c	0.001	-3.539655	0.00009	.	.	ENSG00000183206	ENST00000358970	T	0.20881	2.04	1.34	0.0657	0.14358	.	.	.	.	.	T	0.00012	0.0000	N	0.00116	-2.08	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42430	-0.9452	9	0.06757	T	0.87	.	3.4153	0.07373	0.0:0.2473:0.0:0.7527	.	477	B2RU33	POTEC_HUMAN	Q	477	ENSP00000351856:R477Q	ENSP00000351856:R477Q	R	-	2	0	POTEC	14503764	0.885000	0.30320	0.063000	0.19743	0.005000	0.04900	1.581000	0.36558	0.005000	0.14708	-1.615000	0.00797	CGG		0.358	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		5	17	0	0	0	1	0	5	17				
DSCAML1	57453	broad.mit.edu	37	11	117391914	117391914	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr11:117391914C>T	ENST00000321322.6	-	6	1325	c.1324G>A	c.(1324-1326)Ggg>Agg	p.G442R	DSCAML1_ENST00000527706.1_Missense_Mutation_p.G172R	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	382	Ig-like C2-type 5.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TGGTAGGCCCCGGAATGGCTC	0.652																																						ENST00000321322.6																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(1324-1326)Ggg>Agg		Down syndrome cell adhesion molecule like 1							106.0	94.0	98.0					11																	117391914		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117391914C>T		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.1324G>A	11.37:g.117391914C>T	ENSP00000315465:p.Gly442Arg					DSCAML1_ENST00000527706.1_Missense_Mutation_p.G172R	p.G442R	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	6	1325	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	382			Ig-like C2-type 5.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.1324G>A	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.896408	0.91962	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.81247	-1.47;-1.47	4.85	4.85	0.62838	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.94483	0.8224	H	0.99211	4.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.96962	0.9702	9	0.87932	D	0	.	18.1535	0.89684	0.0:1.0:0.0:0.0	.	172;382	G3V1B5;Q8TD84	.;DSCL1_HUMAN	R	172;442;149	ENSP00000434335:G172R;ENSP00000315465:G442R	ENSP00000315465:G442R	G	-	1	0	DSCAML1	116897124	1.000000	0.71417	0.379000	0.26080	0.952000	0.60782	7.617000	0.83032	2.519000	0.84933	0.609000	0.83330	GGG		0.652	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		5	116	0	0	0	1	0	5	116				
MYH7B	57644	broad.mit.edu	37	20	33574784	33574784	+	Missense_Mutation	SNP	G	G	A	rs115275866	byFrequency	TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr20:33574784G>A	ENST00000262873.7	+	13	1218	c.1126G>A	c.(1126-1128)Gcc>Acc	p.A376T		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	334	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GGAGCTCATCGCCACCGACGT	0.607													G|||	16	0.00319489	0.0121	0.0	5008	,	,		18635	0.0		0.0	False		,,,				2504	0.0					ENST00000262873.7																			0				NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(1126-1128)Gcc>Acc		myosin, heavy chain 7B, cardiac muscle, beta		G	THR/ALA	57,4197		0,57,2070	77.0	76.0	76.0		1126	3.7	1.0	20	dbSNP_132	76	1,8471		0,1,4235	yes	missense	MYH7B	NM_020884.3	58	0,58,6305	AA,AG,GG		0.0118,1.3399,0.4558	possibly-damaging	376/1984	33574784	58,12668	2127	4236	6363	SO:0001583	missense	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33574784G>A	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.1126G>A	20.37:g.33574784G>A	ENSP00000262873:p.Ala376Thr						p.A376T	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		13	1218	+			334			Myosin head-like.		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	c.1126G>A	CCDS42869.1	12	0.005494505494505495	12	0.024390243902439025	0	0.0	0	0.0	0	0.0	G	19.22	3.786240	0.70337	0.013399	1.18E-4	ENSG00000078814	ENST00000262873	D	0.87491	-2.26	3.66	3.66	0.41972	Myosin head, motor domain (2);	0.000000	0.35708	N	0.003040	T	0.81612	0.4859	M	0.80847	2.515	0.39394	D	0.966466	P	0.51240	0.943	P	0.47299	0.543	D	0.87287	0.2296	10	0.72032	D	0.01	.	12.3325	0.55048	0.0878:0.0:0.9122:0.0	.	334	A7E2Y1	MYH7B_HUMAN	T	376	ENSP00000262873:A376T	ENSP00000262873:A376T	A	+	1	0	MYH7B	33038445	0.861000	0.29849	1.000000	0.80357	0.538000	0.34931	2.633000	0.46519	2.356000	0.79943	0.655000	0.94253	GCC		0.607	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		17	28	0	0	0	1	0	17	28				
WSB1	26118	broad.mit.edu	37	17	25631850	25631850	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr17:25631850G>A	ENST00000262394.2	+	4	839	c.523G>A	c.(523-525)Gat>Aat	p.D175N	WSB1_ENST00000583193.1_Intron|WSB1_ENST00000581185.1_Missense_Mutation_p.D175N|WSB1_ENST00000427287.2_Missense_Mutation_p.D144N|WSB1_ENST00000579733.1_Missense_Mutation_p.D29N|WSB1_ENST00000348811.2_Missense_Mutation_p.D29N	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box containing 1	175					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	intracellular (GO:0005622)				lung(3)	3	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		AGTGGTCAGAGATTTAACTTT	0.348																																						ENST00000262394.2																			0				lung(3)	3						c.(523-525)Gat>Aat		WD repeat and SOCS box containing 1							120.0	118.0	118.0					17																	25631850		2203	4300	6503	SO:0001583	missense	26118				intracellular signal transduction	intracellular	protein binding	g.chr17:25631850G>A	AF069313	CCDS11220.1, CCDS11221.1	17q11.2	2013-01-09	2011-01-25		ENSG00000109046	ENSG00000109046		"""WD repeat domain containing"""	19221	protein-coding gene	gene with protein product		610091	"""WD repeat and SOCS box-containing 1"""			10354473, 12076535	Standard	XR_243778		Approved	DKFZp564A122, DKFZp564B0482, SWIP1	uc002gzd.1	Q9Y6I7	OTTHUMG00000132293	ENST00000262394.2:c.523G>A	17.37:g.25631850G>A	ENSP00000262394:p.Asp175Asn					WSB1_ENST00000348811.2_Missense_Mutation_p.D29N|WSB1_ENST00000583193.1_Intron|WSB1_ENST00000427287.2_Missense_Mutation_p.D144N|WSB1_ENST00000579733.1_Missense_Mutation_p.D29N|WSB1_ENST00000581185.1_Missense_Mutation_p.D175N	p.D175N	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	4	839	+	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		175					Q9NRB1|Q9UBH9|Q9UG25|Q9UNN6|Q9Y656	Missense_Mutation	SNP	ENST00000262394.2	37	c.523G>A	CCDS11220.1	.	.	.	.	.	.	.	.	.	.	G	36	5.656326	0.96724	.	.	ENSG00000109046	ENST00000262394;ENST00000427287;ENST00000348811	T;T;T	0.61040	0.14;0.14;0.14	5.95	5.95	0.96441	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	0.75961	0.3921	M	0.76002	2.32	0.80722	D	1	B;B;B;D;D	0.69078	0.006;0.1;0.082;0.993;0.997	B;B;B;P;D	0.64776	0.013;0.066;0.039;0.836;0.929	T	0.75766	-0.3202	10	0.54805	T	0.06	-13.869	19.3906	0.94581	0.0:0.0:1.0:0.0	.	144;175;175;29;175	B4DGB8;B4DTL1;Q9Y6I7-3;Q9Y6I7-2;Q9Y6I7	.;.;.;.;WSB1_HUMAN	N	175;144;29	ENSP00000262394:D175N;ENSP00000416112:D144N;ENSP00000327055:D29N	ENSP00000262394:D175N	D	+	1	0	WSB1	22655977	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.552000	0.73914	2.827000	0.97445	0.650000	0.86243	GAT		0.348	WSB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255391.4	NM_015626		38	42	0	0	0	1	0	38	42				
ACOT9	23597	broad.mit.edu	37	X	23723125	23723125	+	Silent	SNP	G	G	A			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chrX:23723125G>A	ENST00000336430.7	-	13	1196	c.1065C>T	c.(1063-1065)ctC>ctT	p.L355L	ACOT9_ENST00000379295.1_Silent_p.L295L|ACOT9_ENST00000379303.5_Silent_p.L364L	NM_001033583.2	NP_001028755.2	Q9Y305	ACOT9_HUMAN	acyl-CoA thioesterase 9	355					acyl-CoA metabolic process (GO:0006637)	mitochondrion (GO:0005739)	acetyl-CoA hydrolase activity (GO:0003986)|carboxylic ester hydrolase activity (GO:0052689)			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						AAGAAAGAAAGAGCAATGAGC	0.413																																						ENST00000379303.5																			0				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						c.(1090-1092)ctC>ctT		acyl-CoA thioesterase 9							108.0	93.0	98.0					X																	23723125		2203	4300	6503	SO:0001819	synonymous_variant	23597				acyl-CoA metabolic process	mitochondrion	acetyl-CoA hydrolase activity|carboxylesterase activity	g.chrX:23723125G>A	AF132950	CCDS35216.1, CCDS43924.1	Xp22.11	2008-02-05			ENSG00000123130	ENSG00000123130		"""Acyl CoA thioesterases"""	17152	protein-coding gene	gene with protein product		300862				10383425, 10810093, 16103133, 16940157	Standard	XM_005274471		Approved	CGI-16, MT-ACT48, ACATE2	uc004dao.3	Q9Y305	OTTHUMG00000021257	ENST00000336430.7:c.1065C>T	X.37:g.23723125G>A						ACOT9_ENST00000379295.1_Silent_p.L295L|ACOT9_ENST00000336430.7_Silent_p.L355L	p.L364L	NM_001037171.1	NP_001032248.1	Q9Y305	ACOT9_HUMAN			14	1220	-			355					B3KNC9|B7ZM94	Silent	SNP	ENST00000336430.7	37	c.1092C>T	CCDS35216.1																																																																																				0.413	ACOT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056065.1	NM_012332		16	74	0	0	0	1	0	16	74				
KCND2	3751	broad.mit.edu	37	7	119914946	119914946	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr7:119914946G>A	ENST00000331113.4	+	1	1225	c.260G>A	c.(259-261)cGt>cAt	p.R87H		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	87	Interaction with KCNIP1. {ECO:0000250}.				action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	TTCTTTGACCGTGACCCAGAC	0.527																																						ENST00000331113.4																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75						c.(259-261)cGt>cAt		potassium voltage-gated channel, Shal-related subfamily, member 2							134.0	136.0	135.0					7																	119914946		2203	4300	6503	SO:0001583	missense	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:119914946G>A	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.260G>A	7.37:g.119914946G>A	ENSP00000333496:p.Arg87His						p.R87H	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN			1	1225	+	all_neural(327;0.117)		87			Interaction with KCNIP1 (By similarity).		O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	ENST00000331113.4	37	c.260G>A	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.694978	0.88830	.	.	ENSG00000184408	ENST00000331113	D	0.90261	-2.64	5.51	5.51	0.81932	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.97433	0.9160	H	0.98089	4.145	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.98681	1.0692	9	.	.	.	.	19.427	0.94746	0.0:0.0:1.0:0.0	.	87	Q9NZV8	KCND2_HUMAN	H	87	ENSP00000333496:R87H	.	R	+	2	0	KCND2	119702182	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.603000	0.88011	0.655000	0.94253	CGT		0.527	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		4	169	0	0	0	1	0	4	169				
SRMS	6725	broad.mit.edu	37	20	62172684	62172684	+	Missense_Mutation	SNP	G	G	A	rs374780062		TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr20:62172684G>A	ENST00000217188.1	-	7	1185	c.1145C>T	c.(1144-1146)cCg>cTg	p.P382L		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	382	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-tyrosine autophosphorylation (GO:0038083)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			GCTGCTGCTCGGGGAGTAGAT	0.662													G|||	1	0.000199681	0.0	0.0	5008	,	,		16997	0.0		0.0	False		,,,				2504	0.001					ENST00000217188.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19						c.(1144-1146)cCg>cTg		src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites		G	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	95.0	107.0	103.0		1145	4.6	1.0	20		103	1,8599	1.2+/-3.3	0,1,4299	no	missense	SRMS	NM_080823.2	98	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	382/489	62172684	2,13004	2203	4300	6503	SO:0001583	missense	6725						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr20:62172684G>A		CCDS13525.1	20q13.33	2013-02-14	2003-08-22		ENSG00000125508	ENSG00000125508		"""SH2 domain containing"""	11298	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 148"""	C20orf148		7935409	Standard	NM_080823		Approved	SRM, dJ697K14.1	uc002yfi.1	Q9H3Y6	OTTHUMG00000032977	ENST00000217188.1:c.1145C>T	20.37:g.62172684G>A	ENSP00000217188:p.Pro382Leu						p.P382L	NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)		7	1185	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		382			Protein kinase.			Missense_Mutation	SNP	ENST00000217188.1	37	c.1145C>T	CCDS13525.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.345602	0.61073	2.27E-4	1.16E-4	ENSG00000125508	ENST00000217188	D	0.82167	-1.58	4.58	4.58	0.56647	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.108142	0.40469	N	0.001099	T	0.67970	0.2950	N	0.10837	0.055	0.45354	D	0.998343	B	0.14012	0.009	B	0.08055	0.003	T	0.67221	-0.5725	10	0.87932	D	0	.	10.9816	0.47497	0.0882:0.0:0.9118:0.0	.	382	Q9H3Y6	SRMS_HUMAN	L	382	ENSP00000217188:P382L	ENSP00000217188:P382L	P	-	2	0	SRMS	61643128	1.000000	0.71417	0.994000	0.49952	0.964000	0.63967	4.182000	0.58310	2.265000	0.75225	0.561000	0.74099	CCG		0.662	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080148.1	NM_080823		54	83	0	0	0	1	0	54	83				
LCT	3938	broad.mit.edu	37	2	136566252	136566252	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr2:136566252T>C	ENST00000264162.2	-	8	3675	c.3665A>G	c.(3664-3666)aAc>aGc	p.N1222S	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1222	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	GGAGGGTGGGTTTAGCCTGGG	0.587																																						ENST00000264162.2																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(3664-3666)aAc>aGc		lactase							176.0	153.0	161.0					2																	136566252		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136566252T>C	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.3665A>G	2.37:g.136566252T>C	ENSP00000264162:p.Asn1222Ser						p.N1222S	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	8	3675	-			1222			4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.3665A>G	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	T	4.210	0.037716	0.08148	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.51325	0.71	5.65	3.08	0.35506	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.336851	0.37261	N	0.002173	T	0.29783	0.0744	N	0.25890	0.77	0.23366	N	0.997828	B	0.22276	0.067	B	0.29267	0.1	T	0.11966	-1.0566	10	0.25751	T	0.34	-22.7985	3.7071	0.08405	0.1216:0.0688:0.2523:0.5574	.	1222	P09848	LPH_HUMAN	S	1222;654	ENSP00000264162:N1222S	ENSP00000264162:N1222S	N	-	2	0	LCT	136282722	0.000000	0.05858	0.855000	0.33649	0.151000	0.21798	-0.107000	0.10873	0.929000	0.37192	0.460000	0.39030	AAC		0.587	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		27	103	0	0	0	1	0	27	103				
DIP2C	22982	broad.mit.edu	37	10	518418	518418	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr10:518418G>A	ENST00000280886.6	-	3	316	c.229C>T	c.(229-231)Cga>Tga	p.R77*	DIP2C_ENST00000381496.3_5'UTR	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	77	DMAP-interaction.					nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GAAGACCGTCGGCGGTGGTAG	0.592																																						ENST00000280886.6																			0				breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(229-231)Cga>Tga		DIP2 disco-interacting protein 2 homolog C (Drosophila)							141.0	133.0	136.0					10																	518418		2203	4300	6503	SO:0001587	stop_gained	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:518418G>A	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.229C>T	10.37:g.518418G>A	ENSP00000280886:p.Arg77*					DIP2C_ENST00000381496.3_5'UTR	p.R77*	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	3	316	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	77					B4DPI5|Q5SS78	Nonsense_Mutation	SNP	ENST00000280886.6	37	c.229C>T	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.628028	0.87560	.	.	ENSG00000151240	ENST00000280886;ENST00000423550	.	.	.	5.53	5.53	0.82687	.	0.072250	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.9322	18.2216	0.89903	0.0:0.0:1.0:0.0	.	.	.	.	X	77;133	.	ENSP00000280886:R77X	R	-	1	2	DIP2C	508418	1.000000	0.71417	1.000000	0.80357	0.207000	0.24258	5.465000	0.66725	2.616000	0.88540	0.442000	0.29010	CGA		0.592	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		5	107	0	0	0	1	0	5	107				
JPH1	56704	broad.mit.edu	37	8	75227343	75227343	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr8:75227343G>A	ENST00000342232.4	-	2	932	c.892C>T	c.(892-894)Cgc>Tgc	p.R298C		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	298					calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			CCATTGGAGCGCTCGCTAACG	0.537																																						ENST00000342232.4																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24						c.(892-894)Cgc>Tgc		junctophilin 1							135.0	130.0	131.0					8																	75227343		2203	4300	6503	SO:0001583	missense	56704				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr8:75227343G>A	AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.892C>T	8.37:g.75227343G>A	ENSP00000344488:p.Arg298Cys						p.R298C	NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		2	932	-	Breast(64;0.00576)		298					B2RTZ0	Missense_Mutation	SNP	ENST00000342232.4	37	c.892C>T	CCDS6217.1	.	.	.	.	.	.	.	.	.	.	G	19.27	3.795381	0.70452	.	.	ENSG00000104369	ENST00000342232	T	0.53857	0.6	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.63965	0.2556	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64956	-0.6285	10	0.54805	T	0.06	.	19.1608	0.93531	0.0:0.0:1.0:0.0	.	298	Q9HDC5	JPH1_HUMAN	C	298	ENSP00000344488:R298C	ENSP00000344488:R298C	R	-	1	0	JPH1	75389898	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.150000	0.50662	2.749000	0.94314	0.655000	0.94253	CGC		0.537	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379102.1			10	100	0	0	0	1	0	10	100				
DST	667	broad.mit.edu	37	6	56374648	56374648	+	Silent	SNP	G	G	A			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr6:56374648G>A	ENST00000361203.3	-	69	17851	c.17844C>T	c.(17842-17844)atC>atT	p.I5948I	DST_ENST00000340834.4_5'UTR|DST_ENST00000370769.4_Silent_p.I6059I|DST_ENST00000370788.2_Silent_p.I3862I|DST_ENST00000244364.6_Silent_p.I3645I|DST_ENST00000446842.2_Silent_p.I5733I|DST_ENST00000370754.5_Silent_p.I6237I|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Silent_p.I3971I			Q03001	DYST_HUMAN	dystonin	5949					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GGCTCTCAAGGATCTGATCTA	0.398																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(18709-18711)atC>atT		dystonin							89.0	78.0	81.0					6																	56374648		1856	4115	5971	SO:0001819	synonymous_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56374648G>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.17844C>T	6.37:g.56374648G>A						DST_ENST00000446842.2_Silent_p.I5733I|DST_ENST00000370769.4_Silent_p.I6059I|DST_ENST00000340834.4_5'UTR|DST_ENST00000244364.6_Silent_p.I3645I|DST_ENST00000361203.3_Silent_p.I5948I|DST_ENST00000421834.2_Silent_p.I3971I|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Silent_p.I3862I	p.I6237I			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		74	18710	-	Lung NSC(77;0.103)		6057					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000361203.3	37	c.18711C>T																																																																																					0.398	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		21	10	0	0	0	1	0	21	10				
ARFIP1	27236	broad.mit.edu	37	4	153791963	153791963	+	Silent	SNP	A	A	G			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr4:153791963A>G	ENST00000451320.2	+	4	425	c.261A>G	c.(259-261)cgA>cgG	p.R87R	ARFIP1_ENST00000353617.2_Silent_p.R87R|ARFIP1_ENST00000511289.1_3'UTR|ARFIP1_ENST00000405727.2_Intron|ARFIP1_ENST00000356064.3_Intron|ARFIP1_ENST00000429148.2_Intron			P53367	ARFP1_HUMAN	ADP-ribosylation factor interacting protein 1	87					intracellular protein transport (GO:0006886)|regulation of protein secretion (GO:0050708)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)			ARFIP1/FHDC1(2)	cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(180;0.093)					CAGCTAGTCGACTGGCTCAGC	0.448																																						ENST00000451320.2																		ARFIP1/FHDC1(2)	0				cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	14						c.(259-261)cgA>cgG		ADP-ribosylation factor interacting protein 1							117.0	103.0	108.0					4																	153791963		2203	4300	6503	SO:0001819	synonymous_variant	27236				intracellular protein transport|regulation of protein secretion	cytosol|Golgi membrane		g.chr4:153791963A>G	U52521	CCDS3780.1, CCDS34080.1	4q31.3	2008-08-01	2008-08-01			ENSG00000164144			21496	protein-coding gene	gene with protein product	"""arfaptin 1"""	605928				9038142, 10413101	Standard	NM_001025595		Approved	HSU52521	uc003imz.3	P53367		ENST00000451320.2:c.261A>G	4.37:g.153791963A>G						ARFIP1_ENST00000405727.2_Intron|ARFIP1_ENST00000353617.2_Silent_p.R87R|ARFIP1_ENST00000429148.2_Intron|ARFIP1_ENST00000511289.1_3'UTR|ARFIP1_ENST00000356064.3_Intron	p.R87R			P53367	ARFP1_HUMAN			4	425	+	all_hematologic(180;0.093)		87					Q2M2X4|Q3SYL4|Q9Y2X6	Silent	SNP	ENST00000451320.2	37	c.261A>G	CCDS34080.1																																																																																				0.448	ARFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365032.1	NM_014447		30	38	0	0	0	1	0	30	38				
CIC	23152	broad.mit.edu	37	19	42791805	42791805	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr19:42791805A>G	ENST00000575354.2	+	5	731	c.691A>G	c.(691-693)Agc>Ggc	p.S231G	CIC_ENST00000160740.3_Missense_Mutation_p.S231G|CIC_ENST00000572681.2_Missense_Mutation_p.S1140G	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	231					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCGGACCGTCAGCAAGATCCT	0.622			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(3418-3420)Agc>Ggc		capicua transcriptional repressor							81.0	75.0	77.0					19																	42791805		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791805A>G	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.691A>G	19.37:g.42791805A>G	ENSP00000458663:p.Ser231Gly					CIC_ENST00000575354.2_Missense_Mutation_p.S231G|CIC_ENST00000160740.3_Missense_Mutation_p.S231G	p.S1140G			Q96RK0	CIC_HUMAN			6	3486	+		Prostate(69;0.00682)	231			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3418A>G	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	A	13.86	2.364545	0.41902	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	T	0.71031	0.3292	L	0.61218	1.895	0.58432	D	0.999997	D	0.69078	0.997	D	0.77004	0.989	T	0.74259	-0.3723	8	0.87932	D	0	-14.3951	11.626	0.51145	1.0:0.0:0.0:0.0	.	231	Q96RK0	CIC_HUMAN	G	231	.	ENSP00000160740:S231G	S	+	1	0	CIC	47483645	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.768000	0.91737	1.853000	0.53794	0.454000	0.30748	AGC		0.622	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			32	2	0	0	0	1	0	32	2				
HMGCLL1	54511	broad.mit.edu	37	6	55360227	55360227	+	Missense_Mutation	SNP	G	G	A	rs201456410		TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr6:55360227G>A	ENST00000398661.2	-	8	1006	c.875C>T	c.(874-876)aCg>aTg	p.T292M	HMGCLL1_ENST00000370850.2_Missense_Mutation_p.T159M|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.T230M|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.T262M|HMGCLL1_ENST00000508459.1_Intron	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	292					ketone body biosynthetic process (GO:0046951)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	hydroxymethylglutaryl-CoA lyase activity (GO:0004419)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			CTGAAGGGCCGTAAGGATATT	0.383																																					Ovarian(35;840 893 7837 15538 42887)	ENST00000398661.2																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(874-876)aCg>aTg		3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1		G	MET/THR,MET/THR	0,3760		0,0,1880	111.0	100.0	103.0		785,875	3.7	0.4	6		103	1,8211		0,1,4105	yes	missense,missense	HMGCLL1	NM_001042406.1,NM_019036.2	81,81	0,1,5985	AA,AG,GG		0.0122,0.0,0.0084	benign,benign	262/341,292/371	55360227	1,11971	1880	4106	5986	SO:0001583	missense	54511						hydroxymethylglutaryl-CoA lyase activity|metal ion binding	g.chr6:55360227G>A	AK055075	CCDS43474.1, CCDS43475.1, CCDS75472.1, CCDS75473.1	6p12.1	2010-04-30	2010-04-30		ENSG00000146151	ENSG00000146151			21359	protein-coding gene	gene with protein product			"""3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like 1"""			8619474, 9110174	Standard	NM_001042406		Approved	DKFZP434G1411, bA418P12.1	uc003pcn.3	Q8TB92	OTTHUMG00000014902	ENST00000398661.2:c.875C>T	6.37:g.55360227G>A	ENSP00000381654:p.Thr292Met					HMGCLL1_ENST00000370850.2_Missense_Mutation_p.T159M|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.T262M|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.T230M|HMGCLL1_ENST00000508459.1_Intron	p.T292M	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		8	1006	-	Lung NSC(77;0.0875)		292					B1AQ42|B3KNV0|B7Z1S7|F8W793|Q6ZSA9	Missense_Mutation	SNP	ENST00000398661.2	37	c.875C>T	CCDS43475.1	.	.	.	.	.	.	.	.	.	.	G	8.878	0.950963	0.18431	0.0	1.22E-4	ENSG00000146151	ENST00000274901;ENST00000398661;ENST00000370850;ENST00000308161	D;D;D;D	0.98207	-4.79;-4.79;-4.67;-4.79	5.5	3.72	0.42706	Aldolase-type TIM barrel (1);Pyruvate carboxyltransferase (2);	0.258798	0.44688	N	0.000437	D	0.91129	0.7207	N	0.13272	0.32	0.32979	D	0.523346	B;B;B;B	0.23316	0.009;0.008;0.018;0.083	B;B;B;B	0.26693	0.012;0.024;0.024;0.072	D	0.84574	0.0657	10	0.46703	T	0.11	-16.991	11.9507	0.52954	0.1413:0.0:0.8587:0.0	.	159;230;262;292	B7Z212;F8W793;Q8TB92-2;Q8TB92	.;.;.;HMGC2_HUMAN	M	262;292;159;230	ENSP00000274901:T262M;ENSP00000381654:T292M;ENSP00000359887:T159M;ENSP00000309737:T230M	ENSP00000274901:T262M	T	-	2	0	HMGCLL1	55468186	1.000000	0.71417	0.395000	0.26283	0.958000	0.62258	3.434000	0.52841	0.682000	0.31407	0.655000	0.94253	ACG		0.383	HMGCLL1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360290.1	XM_166383		25	24	0	0	0	1	0	25	24				
RELT	84957	broad.mit.edu	37	11	73105561	73105561	+	Silent	SNP	G	G	A	rs373736645	byFrequency	TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr11:73105561G>A	ENST00000064780.2	+	9	1089	c.828G>A	c.(826-828)ccG>ccA	p.P276P	RELT_ENST00000393580.2_Silent_p.P276P|RP11-809N8.2_ENST00000544674.1_RNA	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	276						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						ACATCTGCCCGCACCGCCACC	0.706																																						ENST00000064780.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						c.(826-828)ccG>ccA		RELT tumor necrosis factor receptor							58.0	64.0	62.0					11																	73105561		2199	4292	6491	SO:0001819	synonymous_variant	84957					cytoplasm|integral to membrane|plasma membrane	binding|receptor activity	g.chr11:73105561G>A	AF319553	CCDS8222.1	11q13.2	2013-05-22	2007-06-14	2007-06-14		ENSG00000054967		"""Tumor necrosis factor receptor superfamily"""	13764	protein-coding gene	gene with protein product		611211	"""tumor necrosis factor receptor superfamily, member 19-like"""	TNFRSF19L		11313261, 16547002, 16950202, 16389068	Standard	NM_032871		Approved	FLJ14993	uc001otv.3	Q969Z4		ENST00000064780.2:c.828G>A	11.37:g.73105561G>A						RELT_ENST00000393580.2_Silent_p.P276P	p.P276P	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN			9	1089	+			276					Q86V34|Q96JU1|Q9BUX7	Silent	SNP	ENST00000064780.2	37	c.828G>A	CCDS8222.1																																																																																				0.706	RELT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397380.2	NM_032871		4	122	0	0	0	1	0	4	122				
SYNE1	23345	broad.mit.edu	37	6	152647526	152647526	+	Silent	SNP	G	G	A	rs370314344		TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr6:152647526G>A	ENST00000367255.5	-	79	15799	c.15198C>T	c.(15196-15198)acC>acT	p.T5066T	SYNE1_ENST00000341594.5_Silent_p.T4813T|SYNE1_ENST00000265368.4_Silent_p.T5066T|SYNE1_ENST00000448038.1_Silent_p.T4995T|SYNE1_ENST00000423061.1_Silent_p.T4995T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5066					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTTCTTTGCCGGTTGGCTTGA	0.522										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(15196-15198)acC>acT		spectrin repeat containing, nuclear envelope 1		G	,	0,4406		0,0,2203	91.0	92.0	92.0		14985,15198	-6.1	0.0	6		92	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SYNE1	NM_033071.3,NM_182961.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	4995/8750,5066/8798	152647526	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152647526G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.15198C>T	6.37:g.152647526G>A		HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Silent_p.T4813T|SYNE1_ENST00000423061.1_Silent_p.T4995T|SYNE1_ENST00000448038.1_Silent_p.T4995T|SYNE1_ENST00000265368.4_Silent_p.T5066T	p.T5066T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	79	15799	-		Ovarian(120;0.0955)	5066					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.15198C>T	CCDS5236.2																																																																																				0.522	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		23	34	0	0	0	1	0	23	34				
OR2A5	393046	broad.mit.edu	37	7	143748007	143748007	+	Silent	SNP	C	C	T			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr7:143748007C>T	ENST00000408906.2	+	1	547	c.513C>T	c.(511-513)ccC>ccT	p.P171P		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	171						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(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TCTGTGGGCCCCATGAAATCA	0.552																																						ENST00000408906.2																			0				cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38						c.(511-513)ccC>ccT		olfactory receptor, family 2, subfamily A, member 5							185.0	189.0	188.0					7																	143748007		2055	4223	6278	SO:0001819	synonymous_variant	393046				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143748007C>T	U86278	CCDS43668.1	7q35	2013-09-20	2003-11-24		ENSG00000221836	ENSG00000221836		"""GPCR / Class A : Olfactory receptors"""	8232	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 5"""	OR2A8, OR2A26		9500546	Standard	NM_012365		Approved	OR7-138, OR7-141	uc011ktw.2	Q96R48	OTTHUMG00000158006	ENST00000408906.2:c.513C>T	7.37:g.143748007C>T							p.P171P	NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN			1	547	+	Melanoma(164;0.0783)		171					B9EGX2|O43885|O43888	Silent	SNP	ENST00000408906.2	37	c.513C>T	CCDS43668.1																																																																																				0.552	OR2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349986.1			5	255	0	0	0	1	0	5	255				
PIKFYVE	200576	broad.mit.edu	37	2	209190050	209190050	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr2:209190050A>G	ENST00000264380.4	+	20	2673	c.2515A>G	c.(2515-2517)Atc>Gtc	p.I839V		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	839					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						AGGCTGTACAATCAAGCTAAG	0.393																																						ENST00000264380.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						c.(2515-2517)Atc>Gtc		phosphoinositide kinase, FYVE finger containing							86.0	79.0	81.0					2																	209190050		2203	4300	6503	SO:0001583	missense	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209190050A>G	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.2515A>G	2.37:g.209190050A>G	ENSP00000264380:p.Ile839Val						p.I839V	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN			20	2673	+			839					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	c.2515A>G	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	A	8.231	0.804769	0.16467	.	.	ENSG00000115020	ENST00000264380;ENST00000392200;ENST00000452564	D;D	0.83673	-1.75;-1.75	5.77	1.81	0.25067	.	0.134136	0.47852	N	0.000206	T	0.66867	0.2833	N	0.16743	0.435	0.80722	D	1	B;B	0.21821	0.0;0.061	B;B	0.15870	0.005;0.014	T	0.53899	-0.8373	10	0.32370	T	0.25	-2.6851	8.9497	0.35781	0.7579:0.0:0.2421:0.0	.	839;783	Q9Y2I7;E9PDH4	FYV1_HUMAN;.	V	839;415;783	ENSP00000264380:I839V;ENSP00000405736:I783V	ENSP00000264380:I839V	I	+	1	0	PIKFYVE	208898295	0.996000	0.38824	0.997000	0.53966	0.996000	0.88848	2.246000	0.43142	0.115000	0.18071	0.528000	0.53228	ATC		0.393	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		28	11	0	0	0	1	0	28	11				
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	755						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423																																						ENST00000342960.5																			5	Substitution - Missense(5)	p.E3455K(5)	skin(2)|urinary_tract(1)|kidney(1)|central_nervous_system(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10363-10365)Gaa>Aaa		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145367767G>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10363G>A	1.37:g.145367767G>A	ENSP00000345684:p.Glu3455Lys					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.E3455K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10398	+	all_hematologic(923;0.032)		3455					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.10363G>A	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.929795	0.00488	.	.	ENSG00000163386	ENST00000369339;ENST00000342960	T	0.02552	4.25	.	.	.	.	.	.	.	.	T	0.00784	0.0026	L	0.51422	1.61	0.09310	N	1	.	.	.	.	.	.	T	0.46162	-0.9211	4	0.02654	T	1	.	.	.	.	.	.	.	.	K	575;3455	ENSP00000345684:E3455K	ENSP00000345684:E3455K	E	+	1	0	NBPF10	144079124	0.039000	0.19947	.	.	.	.	0.000000	0.12993	.	.	.	.	GAA		0.423	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		3	31	0	0	0	1	0	3	31				
UBC	7316	broad.mit.edu	37	12	125397725	125397725	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr12:125397725G>A	ENST00000536769.1	-	1	2169	c.593C>T	c.(592-594)gCc>gTc	p.A198V	UBC_ENST00000339647.5_Missense_Mutation_p.A198V|UBC_ENST00000538617.1_Intron|UBC_ENST00000536661.1_5'Flank|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000546120.1_Missense_Mutation_p.A122V			P0CG48	UBC_HUMAN	ubiquitin C	198	Ubiquitin-like 3. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|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 epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|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)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|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)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CTGTTTTCCGGCAAAGATCAA	0.507																																						ENST00000536769.1																			0				breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(592-594)gCc>gTc		ubiquitin C							160.0	146.0	151.0					12																	125397725		2203	4298	6501	SO:0001583	missense	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125397725G>A		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.593C>T	12.37:g.125397725G>A	ENSP00000441543:p.Ala198Val					UBC_ENST00000546120.1_Missense_Mutation_p.A122V|UBC_ENST00000538617.1_Intron|UBC_ENST00000339647.5_Missense_Mutation_p.A198V	p.A198V			P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	2169	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		198			Ubiquitin-like 3.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	ENST00000536769.1	37	c.593C>T	CCDS9260.1	.	.	.	.	.	.	.	.	.	.	-	14.03	2.414321	0.42817	.	.	ENSG00000150991	ENST00000536769;ENST00000535460;ENST00000541046;ENST00000339647;ENST00000546120;ENST00000541272	T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88	2.42	2.42	0.29668	Ubiquitin supergroup (1);Ubiquitin conserved site (1);Ubiquitin (2);	0.000000	0.47852	U	0.000216	T	0.76521	0.3999	M	0.85945	2.785	0.48696	D	0.999691	P;B;P	0.40376	0.715;0.243;0.715	B;B;B	0.41723	0.365;0.032;0.365	T	0.81466	-0.0920	10	0.72032	D	0.01	.	11.1259	0.48317	0.0:0.0:1.0:0.0	.	287;198;198	Q66K58;F5H7K6;P0CG48	.;.;UBC_HUMAN	V	198;198;122;198;122;122	ENSP00000441543:A198V;ENSP00000344818:A198V;ENSP00000438394:A122V;ENSP00000440205:A122V	ENSP00000344818:A198V	A	-	2	0	UBC	123963678	1.000000	0.71417	0.993000	0.49108	0.979000	0.70002	5.811000	0.69187	1.696000	0.51158	0.543000	0.68304	GCC		0.507	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400177.1	NM_021009		4	138	0	0	0	1	0	4	138				
USHBP1	83878	broad.mit.edu	37	19	17362479	17362479	+	Missense_Mutation	SNP	G	G	A	rs139642055		TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr19:17362479G>A	ENST00000252597.3	-	12	2007	c.1834C>T	c.(1834-1836)Cgc>Tgc	p.R612C	USHBP1_ENST00000431146.2_Missense_Mutation_p.R548C|AC010646.3_ENST00000594059.1_5'UTR	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1											breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						AGCTCCCTGCGCAGAGACTGC	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		15382	0.001		0.0	False		,,,				2504	0.0					ENST00000252597.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						c.(1834-1836)Cgc>Tgc		Usher syndrome 1C binding protein 1		G	CYS/ARG	5,4401	9.9+/-24.2	0,5,2198	74.0	73.0	73.0		1834	-2.0	0.0	19	dbSNP_134	73	1,8599	1.2+/-3.3	0,1,4299	yes	missense	USHBP1	NM_031941.3	180	0,6,6497	AA,AG,GG		0.0116,0.1135,0.0461	probably-damaging	612/704	17362479	6,13000	2203	4300	6503	SO:0001583	missense	83878						PDZ domain binding	g.chr19:17362479G>A	AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.1834C>T	19.37:g.17362479G>A	ENSP00000252597:p.Arg612Cys					USHBP1_ENST00000431146.2_Missense_Mutation_p.R548C|AC010646.3_ENST00000594059.1_5'UTR	p.R612C	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN			12	2007	-			612						Missense_Mutation	SNP	ENST00000252597.3	37	c.1834C>T	CCDS12353.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	9.444	1.088811	0.20390	0.001135	1.16E-4	ENSG00000130307	ENST00000252597;ENST00000431146	T;T	0.19250	2.17;2.16	4.28	-2.02	0.07388	.	0.610995	0.13794	N	0.362329	T	0.19927	0.0479	L	0.57536	1.79	0.09310	N	1	D;D	0.63880	0.993;0.993	P;P	0.47470	0.548;0.548	T	0.12116	-1.0560	10	0.66056	D	0.02	-11.2307	2.7278	0.05219	0.309:0.0:0.3506:0.3404	.	548;612	B4DUE8;Q8N6Y0	.;USBP1_HUMAN	C	612;548	ENSP00000252597:R612C;ENSP00000407902:R548C	ENSP00000252597:R612C	R	-	1	0	USHBP1	17223479	0.000000	0.05858	0.003000	0.11579	0.036000	0.12997	-0.070000	0.11523	-0.204000	0.10235	0.561000	0.74099	CGC		0.602	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463328.1	NM_031941		38	34	0	0	0	1	0	38	34				
KCNJ12	3768	broad.mit.edu	37	17	21318742	21318742	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr17:21318742G>A	ENST00000583088.1	+	3	983	c.88G>A	c.(88-90)Ggc>Agc	p.G30S	KCNJ12_ENST00000331718.5_Missense_Mutation_p.G30S	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	30					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	GGGCGCCAACGGCTTCGGCAA	0.647										Prostate(3;0.18)																												ENST00000583088.1																			0				NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70						c.(88-90)Ggc>Agc		potassium inwardly-rectifying channel, subfamily J, member 12							84.0	71.0	75.0					17																	21318742		2203	4300	6503	SO:0001583	missense	3768							g.chr17:21318742G>A	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.88G>A	17.37:g.21318742G>A	ENSP00000463778:p.Gly30Ser	Prostate(3;0.18)				KCNJ12_ENST00000331718.5_Missense_Mutation_p.G30S	p.G30S	NM_021012.4	NP_066292.2				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	983	+								O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	c.88G>A	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139949	0.77775	.	.	ENSG00000184185	ENST00000331718	T	0.38887	1.11	5.33	4.36	0.52297	Potassium channel, inwardly rectifying, Kir, N-terminal (1);	0.172827	0.51477	N	0.000097	T	0.43033	0.1229	L	0.51422	1.61	0.80722	D	1	D	0.54047	0.964	P	0.46796	0.527	T	0.28299	-1.0048	10	0.33141	T	0.24	.	13.8446	0.63459	0.0741:0.0:0.9259:0.0	.	30	Q14500	IRK12_HUMAN	S	30	ENSP00000328150:G30S	ENSP00000328150:G30S	G	+	1	0	KCNJ12	21259335	1.000000	0.71417	0.960000	0.40013	0.854000	0.48673	7.855000	0.86950	1.246000	0.43901	0.591000	0.81541	GGC		0.647	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		7	45	0	0	0	1	0	7	45				
PPP2R5B	5526	broad.mit.edu	37	11	64694345	64694345	+	Missense_Mutation	SNP	C	C	A			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr11:64694345C>A	ENST00000164133.2	+	3	983	c.361C>A	c.(361-363)Ctc>Atc	p.L121I		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	121					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						CCGGGGTGTCCTCATCGAGCC	0.652																																						ENST00000164133.2																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						c.(361-363)Ctc>Atc		protein phosphatase 2, regulatory subunit B', beta							100.0	88.0	92.0					11																	64694345		2201	4297	6498	SO:0001583	missense	5526				signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr11:64694345C>A	L42374	CCDS8085.1	11q12	2010-06-18	2010-04-14		ENSG00000068971	ENSG00000068971		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9310	protein-coding gene	gene with protein product	"""PP2A, B subunit, B' beta isoform"", ""PP2A, B subunit, B56 beta isoform"", ""PP2A, B subunit, PR61 beta isoform"", ""PP2A, B subunit, R5 beta isoform"", ""serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, beta isoform"""	601644	"""protein phosphatase 2, regulatory subunit B (B56), beta isoform"", ""protein phosphatase 2, regulatory subunit B', beta isoform"""			7592815	Standard	NM_006244		Approved	FLJ35411, B56B, PR61B	uc001oby.3	Q15173	OTTHUMG00000150043	ENST00000164133.2:c.361C>A	11.37:g.64694345C>A	ENSP00000164133:p.Leu121Ile						p.L121I	NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN			3	983	+			121					Q13853	Missense_Mutation	SNP	ENST00000164133.2	37	c.361C>A	CCDS8085.1	.	.	.	.	.	.	.	.	.	.	C	9.592	1.126298	0.20959	.	.	ENSG00000068971	ENST00000526559;ENST00000164133;ENST00000359279;ENST00000532850;ENST00000527441	.	.	.	3.94	3.94	0.45596	Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.38585	0.1046	N	0.21373	0.66	0.58432	D	0.999993	P	0.36465	0.554	B	0.41946	0.371	T	0.19778	-1.0295	9	0.02654	T	1	-29.5885	14.2826	0.66224	0.0:1.0:0.0:0.0	.	121	Q15173	2A5B_HUMAN	I	121;121;148;35;121	.	ENSP00000164133:L121I	L	+	1	0	PPP2R5B	64450921	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.738000	0.47401	2.485000	0.83878	0.655000	0.94253	CTC		0.652	PPP2R5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385465.1	NM_006244		3	37	1	0	0.115264	1	0.117481	3	37				
KDM5B	10765	broad.mit.edu	37	1	202718147	202718147	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr1:202718147C>T	ENST00000367265.3	-	14	3106	c.1942G>A	c.(1942-1944)Gct>Act	p.A648T	KDM5B_ENST00000367264.2_Missense_Mutation_p.A684T	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	648					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						ACAGTTGAAGCCACTACAACA	0.413																																						ENST00000367265.3																			0				breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						c.(1942-1944)Gct>Act		lysine (K)-specific demethylase 5B							128.0	118.0	121.0					1																	202718147		2203	4300	6503	SO:0001583	missense	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202718147C>T	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.1942G>A	1.37:g.202718147C>T	ENSP00000356234:p.Ala648Thr					KDM5B_ENST00000367264.2_Missense_Mutation_p.A684T	p.A648T	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN			14	3106	-			648					O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	c.1942G>A	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	C	36	5.844034	0.97016	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790;ENST00000543924	T;T;T	0.71579	-0.58;-0.58;-0.58	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.85517	0.5715	M	0.77486	2.375	0.80722	D	1	D;P	0.89917	1.0;0.947	D;P	0.91635	0.999;0.78	D	0.86218	0.1629	10	0.87932	D	0	-18.3605	20.089	0.97809	0.0:1.0:0.0:0.0	.	684;648	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	T	648;490;684;490;17	ENSP00000356234:A648T;ENSP00000356233:A684T;ENSP00000235790:A490T	ENSP00000235790:A490T	A	-	1	0	KDM5B	200984770	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.760000	0.85248	2.752000	0.94435	0.557000	0.71058	GCT		0.413	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		36	51	0	0	0	1	0	36	51				
OR2A14	135941	broad.mit.edu	37	7	143826709	143826709	+	Silent	SNP	C	C	T			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr7:143826709C>T	ENST00000408899.2	+	1	559	c.504C>T	c.(502-504)tgC>tgT	p.C168C		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	168						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					TGCCCTTCTGCGGGCCTCATG	0.552																																						ENST00000408899.2																			0				large_intestine(4)|lung(17)|skin(1)	22						c.(502-504)tgC>tgT		olfactory receptor, family 2, subfamily A, member 14							213.0	228.0	224.0					7																	143826709		2038	4211	6249	SO:0001819	synonymous_variant	135941				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143826709C>T		CCDS43672.1	7q35	2013-09-20		2004-03-08	ENSG00000221938	ENSG00000221938		"""GPCR / Class A : Olfactory receptors"""	15084	protein-coding gene	gene with protein product				OR2A14P, OR2A6			Standard	NM_001001659		Approved	OST182	uc011kua.2	Q96R47	OTTHUMG00000158003	ENST00000408899.2:c.504C>T	7.37:g.143826709C>T							p.C168C	NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN			1	559	+	Melanoma(164;0.0783)		168					Q6IF41|Q8NGT8	Silent	SNP	ENST00000408899.2	37	c.504C>T	CCDS43672.1																																																																																				0.552	OR2A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349980.1			92	208	0	0	0	1	0	92	208				
PDZD4	57595	broad.mit.edu	37	X	153068982	153068982	+	Silent	SNP	G	G	A			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chrX:153068982G>A	ENST00000164640.4	-	8	2327	c.2136C>T	c.(2134-2136)ggC>ggT	p.G712G	PDZD4_ENST00000544474.1_Silent_p.G603G|PDZD4_ENST00000393758.2_Silent_p.G637G|PDZD4_ENST00000475140.1_5'Flank	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	712						cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTTGCTGTCGCCATTCTGCT	0.602																																						ENST00000164640.4																			0				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23						c.(2134-2136)ggC>ggT		PDZ domain containing 4							141.0	108.0	119.0					X																	153068982		2203	4300	6503	SO:0001819	synonymous_variant	57595					cell cortex		g.chrX:153068982G>A	AK091444	CCDS14732.1	Xq28	2008-02-05		2006-01-24	ENSG00000067840	ENSG00000067840			21167	protein-coding gene	gene with protein product		300634		PDZK4		10819331, 15077175	Standard	NM_032512		Approved	KIAA1444, LU1, FLJ34125, PDZRN4L	uc004fiz.1	Q76G19	OTTHUMG00000024209	ENST00000164640.4:c.2136C>T	X.37:g.153068982G>A						PDZD4_ENST00000393758.2_Silent_p.G637G|PDZD4_ENST00000544474.1_Silent_p.G603G	p.G712G	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN			8	2327	-	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		712					B3KXB1|B7ZKY3|Q8NB75|Q9BUH9|Q9P284	Silent	SNP	ENST00000164640.4	37	c.2136C>T	CCDS14732.1																																																																																				0.602	PDZD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061013.3	NM_032512		26	60	0	0	0	1	0	26	60				
C11orf16	56673	broad.mit.edu	37	11	8943016	8943016	+	Silent	SNP	C	C	T			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr11:8943016C>T	ENST00000326053.5	-	6	1357	c.1251G>A	c.(1249-1251)caG>caA	p.Q417Q	C11orf16_ENST00000525780.1_Intron	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	417										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		GTGCTCTCTGCTGTTTGTGAT	0.473																																						ENST00000326053.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22						c.(1249-1251)caG>caA		chromosome 11 open reading frame 16							168.0	151.0	157.0					11																	8943016		2201	4296	6497	SO:0001819	synonymous_variant	56673							g.chr11:8943016C>T	AJ400877	CCDS7794.1	11p15.3	2008-06-25			ENSG00000176029	ENSG00000176029			1169	protein-coding gene	gene with protein product						11528127	Standard	NM_020643		Approved		uc001mhb.4	Q9NQ32	OTTHUMG00000165654	ENST00000326053.5:c.1251G>A	11.37:g.8943016C>T						C11orf16_ENST00000525780.1_Intron	p.Q417Q	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN		Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)	6	1357	-			417					Q53FB2|Q8N6Y9	Silent	SNP	ENST00000326053.5	37	c.1251G>A	CCDS7794.1																																																																																				0.473	C11orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385626.1	NM_020643		7	104	0	0	0	1	0	7	104				
ABHD8	79575	broad.mit.edu	37	19	17405266	17405266	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr19:17405266T>C	ENST00000247706.3	-	4	1219	c.980A>G	c.(979-981)gAg>gGg	p.E327G	CTD-2278I10.4_ENST00000594077.1_RNA|MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	327							hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						AGCGTTGCCCTCCTTTAACAG	0.647																																					Ovarian(156;1368 2543 15275 41187)	ENST00000247706.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						c.(979-981)gAg>gGg		abhydrolase domain containing 8							158.0	125.0	136.0					19																	17405266		2203	4300	6503	SO:0001583	missense	79575						hydrolase activity	g.chr19:17405266T>C	AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220		"""Abhydrolase domain containing"""	23759	protein-coding gene	gene with protein product						12477932	Standard	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.980A>G	19.37:g.17405266T>C	ENSP00000247706:p.Glu327Gly					MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	p.E327G	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN			4	1219	-			327					Q9HAE9	Missense_Mutation	SNP	ENST00000247706.3	37	c.980A>G	CCDS12355.1	.	.	.	.	.	.	.	.	.	.	T	19.62	3.861211	0.71949	.	.	ENSG00000127220	ENST00000247706;ENST00000544788	T	0.68181	-0.31	5.28	5.28	0.74379	.	0.115620	0.64402	D	0.000020	T	0.61887	0.2383	L	0.49778	1.585	0.80722	D	1	B	0.15473	0.013	B	0.22152	0.038	T	0.59542	-0.7435	10	0.44086	T	0.13	-37.2153	13.1538	0.59505	0.0:0.0:0.0:1.0	.	327	Q96I13	ABHD8_HUMAN	G	327;273	ENSP00000247706:E327G	ENSP00000247706:E327G	E	-	2	0	ABHD8	17266266	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.665000	0.83852	1.998000	0.58463	0.533000	0.62120	GAG		0.647	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462937.1	NM_024527		11	79	0	0	0	1	0	11	79				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977327	29977327	+	RNA	SNP	T	T	C	rs200662795		TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr6:29977327T>C	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000444051.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		GACAGCTGCCTTGTGTGGGAC	0.438																																						ENST00000376797.3																			0																																																			0							g.chr6:29977327T>C	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977327T>C						ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA								0	731	-									RNA	SNP	ENST00000376797.3	37																																																																																						0.438	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		4	44	0	0	0	1	0	4	44				
MPHOSPH9	10198	broad.mit.edu	37	12	123687257	123687257	+	Silent	SNP	G	G	T			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr12:123687257G>T	ENST00000606320.1	-	10	1901	c.1695C>A	c.(1693-1695)gtC>gtA	p.V565V	MPHOSPH9_ENST00000302349.5_Silent_p.V413V|MPHOSPH9_ENST00000392425.3_Silent_p.V413V|MPHOSPH9_ENST00000541076.2_Silent_p.V535V			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	565						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		GGGACTGACTGACTGAGGCCG	0.433																																						ENST00000606320.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33						c.(1693-1695)gtC>gtA		M-phase phosphoprotein 9							115.0	104.0	108.0					12																	123687257		2203	4300	6503	SO:0001819	synonymous_variant	10198				M phase of mitotic cell cycle	centriole|Golgi membrane		g.chr12:123687257G>T	X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.1695C>A	12.37:g.123687257G>T						MPHOSPH9_ENST00000302349.5_Silent_p.V413V|MPHOSPH9_ENST00000392425.3_Silent_p.V413V|MPHOSPH9_ENST00000541076.2_Silent_p.V535V	p.V565V			Q99550	MPP9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)	10	1901	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		413					A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Silent	SNP	ENST00000606320.1	37	c.1695C>A																																																																																					0.433	MPHOSPH9-030	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000471390.2			3	54	1	0	6.4e-05	1	6.65098e-05	3	54				
LCE3E	353145	broad.mit.edu	37	1	152538494	152538494	+	Missense_Mutation	SNP	C	C	T	rs530968216	byFrequency	TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr1:152538494C>T	ENST00000368789.1	-	2	246	c.191G>A	c.(190-192)cGg>cAg	p.R64Q		NM_178435.2	NP_848522.1	Q5T5B0	LCE3E_HUMAN	late cornified envelope 3E	64					keratinization (GO:0031424)					lung(6)|ovary(1)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)		CCTCTGGCGCCGGCATCGGTG	0.677													C|||	2	0.000399361	0.0015	0.0	5008	,	,		15057	0.0		0.0	False		,,,				2504	0.0					ENST00000368789.1																			0				lung(6)|ovary(1)	7						c.(190-192)cGg>cAg		late cornified envelope 3E																																				SO:0001583	missense	353145				keratinization			g.chr1:152538494C>T		CCDS1013.1	1q21.3	2008-02-05			ENSG00000185966	ENSG00000185966		"""Late cornified envelopes"""	29463	protein-coding gene	gene with protein product		612617				11698679	Standard	NM_178435		Approved	LEP17	uc001faa.4	Q5T5B0	OTTHUMG00000012393	ENST00000368789.1:c.191G>A	1.37:g.152538494C>T	ENSP00000357778:p.Arg64Gln						p.R64Q	NM_178435.2	NP_848522.1	Q5T5B0	LCE3E_HUMAN	Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)	2	246	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		64					A2RRM6	Missense_Mutation	SNP	ENST00000368789.1	37	c.191G>A	CCDS1013.1	.	.	.	.	.	.	.	.	.	.	C	9.024	0.985685	0.18889	.	.	ENSG00000185966	ENST00000368789	T	0.03920	3.76	3.82	3.82	0.43975	.	.	.	.	.	T	0.09468	0.0233	.	.	.	0.33333	D	0.568904	D	0.89917	1.0	D	0.64144	0.922	T	0.00970	-1.1496	8	0.87932	D	0	.	11.3716	0.49702	0.0:1.0:0.0:0.0	.	64	Q5T5B0	LCE3E_HUMAN	Q	64	ENSP00000357778:R64Q	ENSP00000357778:R64Q	R	-	2	0	LCE3E	150805118	0.000000	0.05858	0.940000	0.37924	0.060000	0.15804	0.651000	0.24873	2.099000	0.63709	0.557000	0.71058	CGG		0.677	LCE3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034513.1	NM_178435		8	77	0	0	0	1	0	8	77				
OR51I2	390064	broad.mit.edu	37	11	5475052	5475052	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr11:5475052T>C	ENST00000341449.2	+	1	415	c.334T>C	c.(334-336)Tca>Cca	p.S112P	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	112					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATGATGGAATCAGGTATTCT	0.483																																						ENST00000341449.2																			0				endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29						c.(334-336)Tca>Cca		olfactory receptor, family 51, subfamily I, member 2							134.0	129.0	131.0					11																	5475052		2201	4297	6498	SO:0001583	missense	390064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5475052T>C	BK004381	CCDS31383.1	11p15.4	2012-08-09			ENSG00000187918	ENSG00000187918		"""GPCR / Class A : Olfactory receptors"""	15201	protein-coding gene	gene with protein product							Standard	NM_001004754		Approved		uc010qzf.2	Q9H344	OTTHUMG00000066902	ENST00000341449.2:c.334T>C	11.37:g.5475052T>C	ENSP00000341987:p.Ser112Pro					HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	p.S112P	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	415	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	112					Q6IF81	Missense_Mutation	SNP	ENST00000341449.2	37	c.334T>C	CCDS31383.1	.	.	.	.	.	.	.	.	.	.	T	18.65	3.669348	0.67814	.	.	ENSG00000187918	ENST00000341449	T	0.20332	2.08	5.58	5.58	0.84498	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000067	T	0.62853	0.2462	H	0.97896	4.1	0.30711	N	0.749281	D	0.71674	0.998	D	0.75484	0.986	T	0.77148	-0.2694	10	0.87932	D	0	.	14.7227	0.69320	0.0:0.0:0.0:1.0	.	112	Q9H344	O51I2_HUMAN	P	112	ENSP00000341987:S112P	ENSP00000341987:S112P	S	+	1	0	OR51I2	5431628	0.001000	0.12720	0.997000	0.53966	0.936000	0.57629	1.167000	0.31847	2.343000	0.79666	0.533000	0.62120	TCA		0.483	OR51I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143385.1	NM_001004754		36	70	0	0	0	1	0	36	70				
NLRP2	55655	broad.mit.edu	37	19	55494451	55494451	+	Missense_Mutation	SNP	C	C	T	rs200623569		TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr19:55494451C>T	ENST00000543010.1	+	6	1528	c.1385C>T	c.(1384-1386)aCg>aTg	p.T462M	NLRP2_ENST00000538819.1_Missense_Mutation_p.T438M|NLRP2_ENST00000537859.1_Missense_Mutation_p.T440M|NLRP2_ENST00000339757.7_Missense_Mutation_p.T440M|NLRP2_ENST00000263437.6_Missense_Mutation_p.T459M|NLRP2_ENST00000391721.4_Missense_Mutation_p.T438M|NLRP2_ENST00000448584.2_Missense_Mutation_p.T462M|NLRP2_ENST00000427260.2_Missense_Mutation_p.T439M	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	462	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TGGGCGCAGACGTCCGTGCTT	0.687																																						ENST00000543010.1																			0				large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11						c.(1384-1386)aCg>aTg		NLR family, pyrin domain containing 2		C	MET/THR,MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	33.0	33.0	33.0		1385,1319,1316,1385	-1.8	0.0	19		33	2,8596		0,2,4297	no	missense,missense,missense,missense	NLRP2	NM_001174081.1,NM_001174082.1,NM_001174083.1,NM_017852.3	81,81,81,81	0,2,6500	TT,TC,CC		0.0233,0.0,0.0154	benign,benign,benign,benign	462/1063,440/1041,439/1040,462/1063	55494451	2,13002	2203	4299	6502	SO:0001583	missense	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55494451C>T	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.1385C>T	19.37:g.55494451C>T	ENSP00000445135:p.Thr462Met					NLRP2_ENST00000391721.4_Missense_Mutation_p.T438M|NLRP2_ENST00000448584.2_Missense_Mutation_p.T462M|NLRP2_ENST00000339757.7_Missense_Mutation_p.T440M|NLRP2_ENST00000263437.6_Missense_Mutation_p.T459M|NLRP2_ENST00000427260.2_Missense_Mutation_p.T439M|NLRP2_ENST00000537859.1_Missense_Mutation_p.T440M|NLRP2_ENST00000538819.1_Missense_Mutation_p.T438M	p.T462M	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	6	1528	+			462			NACHT.		B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	37	c.1385C>T	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	c	0.077	-1.190086	0.01607	0.0	2.33E-4	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T	0.74737	-0.82;-0.76;-0.76;-0.82;-0.76;-0.87;-0.76;-0.82	1.9	-1.75	0.08031	.	1.094320	0.07248	N	0.865401	T	0.56978	0.2022	N	0.20766	0.605	0.09310	N	1	B;B;B;B;B	0.21688	0.029;0.059;0.035;0.059;0.035	B;B;B;B;B	0.20577	0.012;0.018;0.013;0.03;0.013	T	0.40459	-0.9562	10	0.33141	T	0.24	.	8.0601	0.30627	0.0:0.7089:0.0:0.2911	.	439;440;459;438;462	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	M	462;438;440;462;440;439;438;459	ENSP00000445135:T462M;ENSP00000375601:T438M;ENSP00000344074:T440M;ENSP00000409370:T462M;ENSP00000440601:T440M;ENSP00000402474:T439M;ENSP00000441133:T438M;ENSP00000263437:T459M	ENSP00000263437:T459M	T	+	2	0	NLRP2	60186263	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.255000	0.08769	-0.359000	0.08150	-1.338000	0.01255	ACG		0.687	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		32	2	0	0	0	1	0	32	2				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			24	17	0	0	0	1	0	24	17				
CHAT	1103	broad.mit.edu	37	10	50833584	50833584	+	Missense_Mutation	SNP	A	A	C			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr10:50833584A>C	ENST00000337653.2	+	6	971	c.818A>C	c.(817-819)tAc>tCc	p.Y273S	CHAT_ENST00000455728.2_Missense_Mutation_p.Y155S|CHAT_ENST00000395559.2_Missense_Mutation_p.Y155S|CHAT_ENST00000395562.2_Missense_Mutation_p.Y191S|CHAT_ENST00000339797.1_Missense_Mutation_p.Y155S|CHAT_ENST00000351556.3_Missense_Mutation_p.Y155S	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	273					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	ATGAAGCAATACTATGGGCTC	0.602																																						ENST00000395562.2																			0				central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56						c.(571-573)tAc>tCc		choline O-acetyltransferase	Choline(DB00122)						63.0	48.0	53.0					10																	50833584		2203	4300	6503	SO:0001583	missense	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50833584A>C	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.818A>C	10.37:g.50833584A>C	ENSP00000337103:p.Tyr273Ser					CHAT_ENST00000339797.1_Missense_Mutation_p.Y155S|CHAT_ENST00000395559.2_Missense_Mutation_p.Y155S|CHAT_ENST00000455728.2_Missense_Mutation_p.Y155S|CHAT_ENST00000351556.3_Missense_Mutation_p.Y155S|CHAT_ENST00000337653.2_Missense_Mutation_p.Y273S	p.Y191S	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	7	1041	+		all_neural(218;0.107)	273					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	ENST00000337653.2	37	c.572A>C	CCDS7232.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.002102	0.74932	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	D;D;D;D;D;D	0.92545	-3.06;-3.06;-3.06;-3.06;-3.06;-3.06	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	D	0.96778	0.8948	M	0.92026	3.265	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.87578	0.998;0.998	D	0.97705	1.0187	10	0.87932	D	0	-27.2602	15.1156	0.72397	1.0:0.0:0.0:0.0	.	155;273	F8W8I2;P28329	.;CLAT_HUMAN	S	155;155;155;273;191;155	ENSP00000343486:Y155S;ENSP00000345878:Y155S;ENSP00000378926:Y155S;ENSP00000337103:Y273S;ENSP00000378929:Y191S;ENSP00000390521:Y155S	ENSP00000337103:Y273S	Y	+	2	0	CHAT	50503590	1.000000	0.71417	0.615000	0.29064	0.557000	0.35523	9.323000	0.96364	1.974000	0.57490	0.338000	0.21704	TAC		0.602	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549		8	8	0	0	0	1	0	8	8				
FAM65A	79567	broad.mit.edu	37	16	67575592	67575592	+	Silent	SNP	T	T	G	rs377549645		TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr16:67575592T>G	ENST00000379312.3	+	12	1120	c.999T>G	c.(997-999)tcT>tcG	p.S333S	FAM65A_ENST00000540839.3_Silent_p.S349S|CTD-2012K14.2_ENST00000567122.1_RNA|FAM65A_ENST00000042381.4_Silent_p.S329S|FAM65A_ENST00000422602.2_Silent_p.S349S|CTD-2012K14.4_ENST00000564717.1_RNA|FAM65A_ENST00000428437.2_Silent_p.S343S|CTD-2012K14.3_ENST00000563083.1_RNA	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	333						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CAGCTGCTTCTTCTGTCAACA	0.597																																						ENST00000540839.3																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39						c.(1045-1047)tcT>tcG		family with sequence similarity 65, member A		T	,,,	0,4396		0,0,2198	95.0	92.0	93.0		999,1047,1029,987	0.5	1.0	16		93	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FAM65A	NM_001193522.1,NM_001193523.1,NM_001193524.1,NM_024519.3	,,,	0,2,6496	GG,GT,TT		0.0233,0.0,0.0154	,,,	333/1224,349/1240,343/1234,329/1220	67575592	2,12994	2198	4300	6498	SO:0001819	synonymous_variant	79567					cytoplasm	binding	g.chr16:67575592T>G	AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.999T>G	16.37:g.67575592T>G						FAM65A_ENST00000379312.3_Silent_p.S333S|FAM65A_ENST00000042381.4_Silent_p.S329S|FAM65A_ENST00000428437.2_Silent_p.S343S|FAM65A_ENST00000422602.2_Silent_p.S349S	p.S349S			Q6ZS17	FA65A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)	13	1267	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	333					B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Silent	SNP	ENST00000379312.3	37	c.1047T>G	CCDS54028.1	.	.	.	.	.	.	.	.	.	.	T	5.226	0.227179	0.09916	0.0	2.33E-4	ENSG00000039523	ENST00000428437	.	.	.	4.49	0.463	0.16700	.	.	.	.	.	T	0.43919	0.1269	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21724	-1.0237	4	.	.	.	-13.4974	3.4875	0.07625	0.2362:0.5208:0.0:0.243	.	.	.	.	V	324	.	.	F	+	1	0	FAM65A	66133093	0.947000	0.32204	0.983000	0.44433	0.477000	0.33069	1.609000	0.36858	0.095000	0.17434	0.459000	0.35465	TTC		0.597	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	NM_024519		15	17	0	0	0	1	0	15	17				
H3F3AP4	440926	broad.mit.edu	37	2	175584608	175584608	+	RNA	DEL	G	G	-			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr2:175584608delG	ENST00000442996.1	+	0	217																											CGAAGGAGAAGGGGGGTAAGT	0.602											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000442996.1																			0																																																			0							g.chr2:175584608delG																													2.37:g.175584608delG			OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1924									0	217	+									RNA	DEL	ENST00000442996.1	37																																																																																						0.602	AC018890.6-002	KNOWN	basic	antisense	antisense	OTTHUMT00000334128.1			3	3						3	3	---	---	---	---
NIPBL	25836	broad.mit.edu	37	5	37001134	37001135	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr5:37001134_37001135delAG	ENST00000282516.8	+	14	4117_4118	c.3618_3619delAG	c.(3616-3621)atagagfs	p.E1207fs	NIPBL_ENST00000448238.2_Frame_Shift_Del_p.E1207fs	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1207					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CAGCCTCAATAGAGAATATTTT	0.307																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(3616-3621)atagfs		Nipped-B homolog (Drosophila)																																				SO:0001589	frameshift_variant	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37001134_37001135delAG	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.3618_3619delAG	5.37:g.37001136_37001137delAG	ENSP00000282516:p.Glu1207fs					NIPBL_ENST00000448238.2_Frame_Shift_Del_p.IE1206fs	p.IE1206fs	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		14	4117_4118	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		1206		I -> V.|Missing (in CDLS1).			Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Frame_Shift_Del	DEL	ENST00000282516.8	37	c.3618_3619delAG	CCDS3920.1																																																																																				0.307	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		21	43						21	43	---	---	---	---
TAP1	6890	broad.mit.edu	37	6	32821013	32821013	+	Frame_Shift_Del	DEL	C	C	-			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr6:32821013delC	ENST00000354258.4	-	1	742	c.581delG	c.(580-582)ggafs	p.G194fs	PSMB9_ENST00000395330.1_Intron|PSMB9_ENST00000453265.2_5'Flank|PSMB9_ENST00000374859.2_5'Flank|TAP1_ENST00000425148.2_5'Flank	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	194					antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytosol to ER transport (GO:0046967)|defense response (GO:0006952)|intracellular transport of viral protein in host cell (GO:0019060)|peptide transport (GO:0015833)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|TAP complex (GO:0042825)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|MHC class Ib protein binding (GO:0023029)|peptide antigen binding (GO:0042605)|peptide transporter activity (GO:0015197)|protein homodimerization activity (GO:0042803)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21					Lapatinib(DB01259)	AGGGTGACTTCCCCAGTGCAG	0.672																																						ENST00000354258.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						c.(580-582)gafs		transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)							24.0	20.0	21.0					6																	32821013		1509	2707	4216	SO:0001589	frameshift_variant	6890				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr6:32821013delC		CCDS4758.1	6p21.3	2014-09-17			ENSG00000168394	ENSG00000168394		"""ATP binding cassette transporters / subfamily B"""	43	protein-coding gene	gene with protein product		170260		ABCB2		1529427, 1946428	Standard	NM_000593		Approved	PSF1, RING4, D6S114E	uc003ocg.3	Q03518	OTTHUMG00000031067	ENST00000354258.4:c.581delG	6.37:g.32821013delC	ENSP00000346206:p.Gly194fs					PSMB9_ENST00000395330.1_Intron	p.G194fs	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN			1	742	-			194					Q16149|Q96CP4	Frame_Shift_Del	DEL	ENST00000354258.4	37	c.581delG	CCDS4758.1																																																																																				0.672	TAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076087.2	NM_000593		2	4						2	4	---	---	---	---
INTS4L2	644619	broad.mit.edu	37	7	65150824	65150825	+	RNA	INS	-	-	G	rs374730441|rs202004878|rs183571014|rs553737227	byFrequency	TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr7:65150824_65150825insG	ENST00000430126.2	+	0	757							Q2T9F4	IN4L2_HUMAN	integrator complex subunit 4-like 2																		TCACCCCCCCCCCCGTTAAAAT	0.47																																						ENST00000430126.2																			0																																																			0							g.chr7:65150824_65150825insG	BC111554		7q11.21	2013-03-26			ENSG00000232270	ENSG00000273024			22351	other	unknown							Standard	NR_027392		Approved	MGC133166	uc003tue.2	Q2T9F4	OTTHUMG00000156558		7.37:g.65150824_65150825insG														0	757	+									RNA	INS	ENST00000430126.2	37																																																																																						0.470	INTS4L2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345545.2	NR_027392		4	3						4	3	---	---	---	---
HELZ2	85441	broad.mit.edu	37	20	62203514	62203514	+	Frame_Shift_Del	DEL	G	G	-			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr20:62203514delG	ENST00000467148.1	-	1	294	c.225delC	c.(223-225)cccfs	p.P75fs	HELZ2_ENST00000479540.1_5'UTR	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	75					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GGTGCTCCCAGGGCAGGGCCT	0.647																																						ENST00000467148.1																			0											c.(223-225)ccfs		helicase with zinc finger 2, transcriptional coactivator							35.0	30.0	32.0					20																	62203514		2187	4294	6481	SO:0001589	frameshift_variant	85441							g.chr20:62203514delG	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.225delC	20.37:g.62203514delG	ENSP00000417401:p.Pro75fs					HELZ2_ENST00000479540.1_5'UTR	p.P75fs	NM_001037335.2	NP_001032412.2					1	294	-								Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Frame_Shift_Del	DEL	ENST00000467148.1	37	c.225delC	CCDS33508.1																																																																																				0.647	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		7	9						7	9	---	---	---	---
