#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
MOB3C	148932	broad.mit.edu	37	1	47075780	47075780	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr1:47075780C>T	ENST00000319928.3	-	3	745	c.515G>A	c.(514-516)aGc>aAc	p.S172N	MOB3C_ENST00000271139.8_Missense_Mutation_p.S224N|MKNK1_ENST00000545730.1_Intron|MOB3C_ENST00000371940.1_Missense_Mutation_p.S195N|MOB3C_ENST00000477318.1_5'UTR	NM_201403.2	NP_958805.1	Q70IA8	MOB3C_HUMAN	MOB kinase activator 3C	172							metal ion binding (GO:0046872)										GCTGAGGATGCTATCGAAGTG	0.557																																						ENST00000371940.1																			0											c.(583-585)aGc>aAc		MOB kinase activator 3C							136.0	127.0	130.0					1																	47075780		2203	4300	6503	SO:0001583	missense	148932						metal ion binding	g.chr1:47075780C>T	AK091808	CCDS539.1, CCDS540.1	1p34.1	2011-09-28	2011-09-28	2011-09-28	ENSG00000142961	ENSG00000142961		"""MOB kinase activators"""	29800	protein-coding gene	gene with protein product			"""MOB1, Mps One Binder kinase activator-like 2C (yeast)"""	MOBKL2C		12477932	Standard	NM_145279		Approved	MOB1E	uc001cqe.4	Q70IA8	OTTHUMG00000007989	ENST00000319928.3:c.515G>A	1.37:g.47075780C>T	ENSP00000315113:p.Ser172Asn					MKNK1_ENST00000545730.1_Intron|MOB3C_ENST00000477318.1_5'UTR|MOB3C_ENST00000319928.3_Missense_Mutation_p.S172N|MOB3C_ENST00000271139.8_Missense_Mutation_p.S224N	p.S195N			Q70IA8	MOL2C_HUMAN			2	3658	-			172					D3DQ22|Q0VA98|Q5TC10|Q5TC11|Q8NAZ2|Q8NF28	Missense_Mutation	SNP	ENST00000319928.3	37	c.584G>A	CCDS540.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.516237	0.64634	.	.	ENSG00000142961	ENST00000319928;ENST00000271139;ENST00000371940	.	.	.	5.19	5.19	0.71726	.	0.217239	0.56097	D	0.000034	T	0.42131	0.1189	N	0.19112	0.55	0.47621	D	0.999473	B	0.02656	0.0	B	0.11329	0.006	T	0.23833	-1.0177	9	0.25106	T	0.35	-37.89	13.7558	0.62935	0.0:0.8461:0.1539:0.0	.	172	Q70IA8	MOB3C_HUMAN	N	172;224;195	.	ENSP00000271139:S224N	S	-	2	0	MOBKL2C	46848367	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.733000	0.62036	2.571000	0.86741	0.561000	0.74099	AGC		0.557	MOB3C-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145279		4	95	0	0	0	1	0	4	95				
ZNF696	79943	broad.mit.edu	37	8	144378438	144378438	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr8:144378438G>A	ENST00000330143.3	+	3	1002	c.593G>A	c.(592-594)cGg>cAg	p.R198Q		NM_030895.2	NP_112157.2	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	198					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			AACCTCCTCCGGCACCAGCGC	0.731																																						ENST00000330143.3																			0				lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8						c.(592-594)cGg>cAg		zinc finger protein 696							14.0	15.0	15.0					8																	144378438		2197	4289	6486	SO:0001583	missense	79943				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:144378438G>A	AK024191	CCDS6399.1	8q24.3	2013-01-08				ENSG00000185730		"""Zinc fingers, C2H2-type"""	25872	protein-coding gene	gene with protein product							Standard	NM_030895		Approved	FLJ14129	uc003yxy.4	Q9H7X3		ENST00000330143.3:c.593G>A	8.37:g.144378438G>A	ENSP00000328515:p.Arg198Gln						p.R198Q	NM_030895.2	NP_112157.2	Q9H7X3	ZN696_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		3	1002	+	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		198					A0AVE2	Missense_Mutation	SNP	ENST00000330143.3	37	c.593G>A	CCDS6399.1	.	.	.	.	.	.	.	.	.	.	G	8.247	0.808094	0.16467	.	.	ENSG00000185730	ENST00000518575;ENST00000330143	T;T	0.29655	1.56;1.75	3.09	-0.779	0.10973	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20414	0.0491	L	0.57130	1.785	0.09310	N	0.999998	P	0.40731	0.728	B	0.24701	0.055	T	0.10800	-1.0614	8	.	.	.	.	6.9675	0.24631	0.4872:0.0:0.5128:0.0	.	198	Q9H7X3	ZN696_HUMAN	Q	198	ENSP00000427857:R198Q;ENSP00000328515:R198Q	.	R	+	2	0	ZNF696	144449813	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-3.658000	0.00401	-0.058000	0.13177	0.551000	0.68910	CGG		0.731	ZNF696-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381164.2	NM_030895		3	15	0	0	0	1	0	3	15				
LOC101927079	101927079	broad.mit.edu	37	15	22332570	22332570	+	RNA	SNP	T	T	C	rs551210093		TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr15:22332570T>C	ENST00000558896.1	+	0	377																											CCCATGCTCATCTGCTCCAAT	0.398																																						ENST00000558896.1																			0																																																			0							g.chr15:22332570T>C																													15.37:g.22332570T>C														0	377	+									RNA	SNP	ENST00000558896.1	37																																																																																						0.398	RP11-69H14.6-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000417625.1			6	332	0	0	0	1	0	6	332				
FRG1B	284802	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr20:29628236G>C	ENST00000278882.3	+	6	618	c.238G>C	c.(238-240)Gct>Cct	p.A80P	FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	80								p.A80P(8)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363																																						ENST00000278882.3																			8	Substitution - Missense(8)	p.A80P(8)	prostate(4)|kidney(4)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(238-240)Gct>Cct																																						SO:0001583	missense	0							g.chr20:29628236G>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.238G>C	20.37:g.29628236G>C	ENSP00000278882:p.Ala80Pro					FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P	p.A80P							6	618	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.238G>C		.	.	.	.	.	.	.	.	.	.	g	15.73	2.920277	0.52653	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.57595	0.39	2.08	2.08	0.27032	Actin cross-linking (1);	0.052409	0.85682	D	0.000000	T	0.68952	0.3057	.	.	.	0.80722	D	1	D;D	0.64830	0.994;0.988	D;D	0.85130	0.997;0.993	T	0.72766	-0.4194	9	0.87932	D	0	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	85;80	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	P	80;85;80	ENSP00000408863:A85P	ENSP00000278882:A80P	A	+	1	0	FRG1B	28241897	1.000000	0.71417	1.000000	0.80357	0.334000	0.28698	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	111	0	0	0	1	0	4	111				
APBB1IP	54518	broad.mit.edu	37	10	26785235	26785235	+	Silent	SNP	T	T	C			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr10:26785235T>C	ENST00000376236.4	+	4	530	c.75T>C	c.(73-75)agT>agC	p.S25S	APBB1IP_ENST00000356785.4_Silent_p.S25S	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	25					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						TTTCACAGAGTTTAGGAGTTG	0.378																																						ENST00000376236.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						c.(73-75)agT>agC		amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein							91.0	90.0	91.0					10																	26785235		2203	4300	6503	SO:0001819	synonymous_variant	54518				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium		g.chr10:26785235T>C	AB085852	CCDS31167.1	10p12.1	2013-01-10			ENSG00000077420	ENSG00000077420		"""Pleckstrin homology (PH) domain containing"""	17379	protein-coding gene	gene with protein product	"""Rap1-GTP-interacting adaptor molecule"""	609036				9407065	Standard	NM_019043		Approved	INAG1, RIAM	uc001iss.3	Q7Z5R6	OTTHUMG00000017841	ENST00000376236.4:c.75T>C	10.37:g.26785235T>C						APBB1IP_ENST00000356785.4_Silent_p.S25S	p.S25S	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN			4	530	+			25					Q8IWS8|Q8IYL7|Q8IZZ7	Silent	SNP	ENST00000376236.4	37	c.75T>C	CCDS31167.1																																																																																				0.378	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047270.1	NM_019043		4	61	0	0	0	1	0	4	61				
PFKFB4	5210	broad.mit.edu	37	3	48573816	48573816	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr3:48573816A>G	ENST00000232375.3	-	8	825	c.713T>C	c.(712-714)aTc>aCc	p.I238T	PFKFB4_ENST00000416568.1_Missense_Mutation_p.I238T|PFKFB4_ENST00000536104.1_Missense_Mutation_p.I227T|PFKFB4_ENST00000545984.1_3'UTR|PFKFB4_ENST00000383734.2_Missense_Mutation_p.I238T|PFKFB4_ENST00000541519.1_Missense_Mutation_p.I204T|PFKFB4_ENST00000490115.1_5'UTR	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	238	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		GTAATATACGATGCGGCTCTG	0.577																																						ENST00000232375.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14						c.(712-714)aTc>aCc		6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4							155.0	150.0	152.0					3																	48573816		2203	4300	6503	SO:0001583	missense	5210				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity	g.chr3:48573816A>G	BC010269	CCDS2771.1	3p22-p21	2004-03-02			ENSG00000114268	ENSG00000114268			8875	protein-coding gene	gene with protein product		605320				8830046, 10095107	Standard	NM_004567		Approved		uc003ctv.3	Q16877	OTTHUMG00000133528	ENST00000232375.3:c.713T>C	3.37:g.48573816A>G	ENSP00000232375:p.Ile238Thr					PFKFB4_ENST00000383734.2_Missense_Mutation_p.I238T|PFKFB4_ENST00000416568.1_Missense_Mutation_p.I238T|PFKFB4_ENST00000541519.1_Missense_Mutation_p.I204T|PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000545984.1_3'UTR|PFKFB4_ENST00000536104.1_Missense_Mutation_p.I227T	p.I238T	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)	8	825	-			238			6-phosphofructo-2-kinase.		Q5S3G5|Q5XLC2|Q64EX5	Missense_Mutation	SNP	ENST00000232375.3	37	c.713T>C	CCDS2771.1	.	.	.	.	.	.	.	.	.	.	A	19.59	3.855849	0.71834	.	.	ENSG00000114268	ENST00000232375;ENST00000536104;ENST00000416568;ENST00000383734;ENST00000541519;ENST00000452531	.	.	.	4.43	4.43	0.53597	6-phosphofructo-2-kinase (1);	0.000000	0.85682	D	0.000000	T	0.70168	0.3193	M	0.61703	1.905	0.80722	D	1	P;D;D;P	0.76494	0.918;0.997;0.999;0.497	D;D;D;B	0.91635	0.915;0.996;0.999;0.398	T	0.68179	-0.5477	9	0.31617	T	0.26	-25.7242	11.9766	0.53096	1.0:0.0:0.0:0.0	.	227;238;238;238	B7Z5C3;Q5XLC2;Q66S35;Q16877	.;.;.;F264_HUMAN	T	238;227;238;238;204;227	.	ENSP00000232375:I238T	I	-	2	0	PFKFB4	48548820	1.000000	0.71417	0.889000	0.34880	0.934000	0.57294	5.112000	0.64634	1.999000	0.58509	0.459000	0.35465	ATC		0.577	PFKFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257503.2	NM_004567		24	98	0	0	0	1	0	24	98				
IGFBP6	3489	broad.mit.edu	37	12	53494618	53494618	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr12:53494618G>A	ENST00000301464.3	+	2	730	c.457G>A	c.(457-459)Gcg>Acg	p.A153T	SOAT2_ENST00000301466.3_5'Flank|IGFBP6_ENST00000549628.1_3'UTR|IGFBP6_ENST00000548547.1_Missense_Mutation_p.A151T	NM_002178.2	NP_002169.1	P24592	IBP6_HUMAN	insulin-like growth factor binding protein 6	153					cellular protein metabolic process (GO:0044267)|negative regulation of cell proliferation (GO:0008285)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)				large_intestine(1)|lung(3)|ovary(1)|pancreas(1)	6						GCCCAATTCTGCGGGTGTCCA	0.602																																					Esophageal Squamous(83;1656 1718 30141 34380)	ENST00000548547.1																			0				large_intestine(1)|lung(3)|ovary(1)|pancreas(1)	6						c.(451-453)Gcg>Acg		insulin-like growth factor binding protein 6							91.0	90.0	90.0					12																	53494618		2203	4300	6503	SO:0001583	missense	3489				negative regulation of cell proliferation|regulation of cell growth|signal transduction			g.chr12:53494618G>A		CCDS8846.1	12q13	2008-07-28				ENSG00000167779			5475	protein-coding gene	gene with protein product		146735				1850258, 10087296	Standard	NM_002178		Approved		uc001sbu.1	P24592	OTTHUMG00000169773	ENST00000301464.3:c.457G>A	12.37:g.53494618G>A	ENSP00000301464:p.Ala153Thr					IGFBP6_ENST00000301464.3_Missense_Mutation_p.A153T|IGFBP6_ENST00000549628.1_3'UTR	p.A151T			P24592	IBP6_HUMAN			2	733	+			153					Q14492	Missense_Mutation	SNP	ENST00000301464.3	37	c.451G>A	CCDS8846.1	.	.	.	.	.	.	.	.	.	.	G	9.469	1.095087	0.20471	.	.	ENSG00000167779	ENST00000548547;ENST00000301464	T;T	0.61859	0.07;0.07	4.6	4.6	0.57074	Thyroglobulin type-1 (1);	1.769110	0.03092	N	0.159991	T	0.44222	0.1283	N	0.14661	0.345	0.09310	N	1	B	0.33073	0.396	B	0.32211	0.142	T	0.28038	-1.0056	10	0.13470	T	0.59	-7.7634	13.1109	0.59273	0.0:0.0:1.0:0.0	.	153	P24592	IBP6_HUMAN	T	151;153	ENSP00000448953:A151T;ENSP00000301464:A153T	ENSP00000301464:A153T	A	+	1	0	IGFBP6	51780885	0.856000	0.29760	0.079000	0.20413	0.045000	0.14185	4.321000	0.59209	2.564000	0.86499	0.655000	0.94253	GCG		0.602	IGFBP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405813.1			14	66	0	0	0	1	0	14	66				
ZNF454	285676	broad.mit.edu	37	5	178392554	178392554	+	Silent	SNP	T	T	G			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr5:178392554T>G	ENST00000320129.3	+	5	1452	c.1149T>G	c.(1147-1149)ccT>ccG	p.P383P	ZNF454_ENST00000519564.1_Silent_p.P383P	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	383					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		GAGAGAAACCTTATAAATGTA	0.413																																						ENST00000320129.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46						c.(1147-1149)ccT>ccG		zinc finger protein 454							44.0	47.0	46.0					5																	178392554		2203	4300	6503	SO:0001819	synonymous_variant	285676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178392554T>G	AK094763	CCDS4441.1	5q35.3	2013-01-08			ENSG00000178187	ENSG00000178187		"""Zinc fingers, C2H2-type"", ""-"""	21200	protein-coding gene	gene with protein product							Standard	NM_182594		Approved	FLJ37444	uc021yjc.1	Q8N9F8	OTTHUMG00000130891	ENST00000320129.3:c.1149T>G	5.37:g.178392554T>G						ZNF454_ENST00000519564.1_Silent_p.P383P	p.P383P	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)	5	1452	+	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	383					Q2M1P2|Q2M323	Silent	SNP	ENST00000320129.3	37	c.1149T>G	CCDS4441.1																																																																																				0.413	ZNF454-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253476.2	XM_209718		10	62	0	0	0	1	0	10	62				
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	A	G	rs10902490|rs528214697	byFrequency	TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr12:132547093A>G	ENST00000333577.4	+	48	8398	c.8289A>G	c.(8287-8289)caA>caG	p.Q2763Q	EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000389561.2_Silent_p.Q2727Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagc	0.567																																						ENST00000333577.4																			9	Substitution - coding silent(9)	p.Q2726Q(9)	lung(3)|kidney(2)|endometrium(2)|central_nervous_system(2)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8287-8289)caA>caG		E1A binding protein p400							25.0	29.0	28.0					12																	132547093		2173	4217	6390	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547093A>G	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8289A>G	12.37:g.132547093A>G						EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000389562.2_Silent_p.Q2726Q	p.Q2763Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8398	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2763			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8289A>G																																																																																					0.567	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		5	35	0	0	0	1	0	5	35				
MYO1E	4643	broad.mit.edu	37	15	59500983	59500983	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr15:59500983C>T	ENST00000288235.4	-	14	1826	c.1427G>A	c.(1426-1428)gGg>gAg	p.G476E		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	476	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		CTGATCTGCCCCCTCACCCAC	0.537																																						ENST00000288235.4																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33						c.(1426-1428)gGg>gAg		myosin IE							160.0	134.0	142.0					15																	59500983		2191	4290	6481	SO:0001583	missense	4643				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity	g.chr15:59500983C>T	U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"""Myosins / Myosin superfamily : Class I"""	7599	protein-coding gene	gene with protein product	"""myosin-IC"""	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.1427G>A	15.37:g.59500983C>T	ENSP00000288235:p.Gly476Glu						p.G476E	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN		all cancers(107;0.207)	14	1826	-			476			Myosin head-like.		Q14778	Missense_Mutation	SNP	ENST00000288235.4	37	c.1427G>A	CCDS32254.1	.	.	.	.	.	.	.	.	.	.	C	34	5.408774	0.96072	.	.	ENSG00000157483	ENST00000288235	D	0.87491	-2.26	5.37	5.37	0.77165	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.95345	0.8489	M	0.92169	3.28	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95994	0.8988	10	0.87932	D	0	.	19.4857	0.95027	0.0:1.0:0.0:0.0	.	476	Q12965	MYO1E_HUMAN	E	476	ENSP00000288235:G476E	ENSP00000288235:G476E	G	-	2	0	MYO1E	57288275	1.000000	0.71417	0.982000	0.44146	0.937000	0.57800	7.750000	0.85110	2.677000	0.91161	0.561000	0.74099	GGG		0.537	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416024.1	NM_004998		13	54	0	0	0	1	0	13	54				
UGT2B15	7366	broad.mit.edu	37	4	69535901	69535901	+	Missense_Mutation	SNP	A	A	T			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr4:69535901A>T	ENST00000338206.5	-	1	445	c.436T>A	c.(436-438)Ttt>Att	p.F146I		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	146					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)									Acetaminophen(DB00316)|Dabigatran etexilate(DB06695)|Ezetimibe(DB00973)|Lorazepam(DB00186)|Morphine(DB00295)|Oxazepam(DB00842)|Valproic Acid(DB00313)	ATGACATCAAACTTTGACTCT	0.373																																						ENST00000338206.5																			0											c.(436-438)Ttt>Att		UDP glucuronosyltransferase 2 family, polypeptide B15							206.0	213.0	211.0					4																	69535901		2203	4296	6499	SO:0001583	missense	7366				steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69535901A>T	AF180322	CCDS3524.1	4q13	2008-02-05	2005-07-20		ENSG00000196620	ENSG00000196620		"""UDP glucuronosyltransferases"""	12546	protein-coding gene	gene with protein product		600069	"""UDP glycosyltransferase 2 family, polypeptide B15"""			7835904	Standard	NM_001076		Approved	UGT2B8	uc021xow.1	P54855	OTTHUMG00000161507	ENST00000338206.5:c.436T>A	4.37:g.69535901A>T	ENSP00000341045:p.Phe146Ile						p.F146I	NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN			1	445	-			146					A6NDX0|A6NNJ4|A8K054|P23765|Q9UK63	Missense_Mutation	SNP	ENST00000338206.5	37	c.436T>A	CCDS3524.1	.	.	.	.	.	.	.	.	.	.	a	13.78	2.339991	0.41398	.	.	ENSG00000196620	ENST00000338206	T	0.63580	-0.05	2.79	2.79	0.32731	.	0.277522	0.29616	U	0.011645	T	0.81088	0.4750	M	0.93720	3.45	0.27031	N	0.964248	D	0.76494	0.999	D	0.74023	0.982	T	0.72896	-0.4153	10	0.87932	D	0	.	8.9997	0.36074	1.0:0.0:0.0:0.0	.	146	P54855	UDB15_HUMAN	I	146	ENSP00000341045:F146I	ENSP00000341045:F146I	F	-	1	0	UGT2B15	69218496	1.000000	0.71417	0.259000	0.24435	0.075000	0.17131	7.976000	0.88070	1.259000	0.44117	0.363000	0.22086	TTT		0.373	UGT2B15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365172.1	NM_001076		12	307	0	0	0	1	0	12	307				
TBP	6908	broad.mit.edu	37	6	170871016	170871016	+	Silent	SNP	G	G	A	rs542031948		TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr6:170871016G>A	ENST00000392092.2	+	3	471	c.192G>A	c.(190-192)caG>caA	p.Q64Q	TBP_ENST00000540980.1_Silent_p.Q44Q|TBP_ENST00000230354.6_Silent_p.Q64Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	64	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		aacaacaacagcagcagcagc	0.557													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14897	0.0		0.0	False		,,,				2504	0.0					ENST00000392092.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(190-192)caG>caA		TATA box binding protein							31.0	35.0	33.0					6																	170871016		2202	4292	6494	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871016G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.192G>A	6.37:g.170871016G>A						TBP_ENST00000540980.1_Silent_p.Q44Q|TBP_ENST00000230354.6_Silent_p.Q64Q	p.Q64Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	471	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	64			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.192G>A	CCDS5315.1																																																																																				0.557	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		4	39	0	0	0	1	0	4	39				
TVP23C	201158	broad.mit.edu	37	17	15441469	15441469	+	Intron	SNP	C	C	T	rs568909748	byFrequency	TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr17:15441469C>T	ENST00000225576.3	-	5	558				TVP23C_ENST00000584811.1_Splice_Site|TVP23C_ENST00000583206.1_5'Flank|TVP23C_ENST00000428082.2_Splice_Site|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000519970.1_Intron	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)							integral component of membrane (GO:0016021)											TCCAGTGTTCCGCAAAAGACA	0.393													c|||	3	0.000599042	0.0015	0.0	5008	,	,		17476	0.001		0.0	False		,,,				2504	0.0					ENST00000584811.1																			0											c.e7-2		trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)																																				SO:0001627	intron_variant	201158							g.chr17:15441469C>T	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B2"""	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.462+7629G>A	17.37:g.15441469C>T						TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000225576.3_Intron|TVP23C-CDRT4_ENST00000522212.2_Intron								7	1815	-								Q3LIC7	Splice_Site	SNP	ENST00000225576.3	37		CCDS11170.1	.	.	.	.	.	.	.	.	.	.	c	13.58	2.280351	0.40294	.	.	ENSG00000175106	ENST00000438826	.	.	.	4.5	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.0583	0.25111	0.0:0.1033:0.0:0.8967	.	.	.	.	.	-1	.	.	.	-	.	.	FAM18B2	15382194	1.000000	0.71417	0.996000	0.52242	0.698000	0.40448	1.919000	0.40015	0.852000	0.35287	-0.352000	0.07741	.		0.393	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130705.2	NM_145301		5	73	0	0	0	1	0	5	73				
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562													G|||	37	0.00738818	0.0038	0.0072	5008	,	,		15585	0.002		0.0149	False		,,,				2504	0.0102					ENST00000333577.4																			17	Substitution - coding silent(17)	p.Q2724Q(16)|p.Q2725Q(1)	prostate(4)|kidney(4)|central_nervous_system(3)|lung(3)|endometrium(2)|urinary_tract(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8281-8283)caG>caA		E1A binding protein p400							28.0	31.0	30.0					12																	132547087		2199	4282	6481	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547087G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8283G>A	12.37:g.132547087G>A						EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000389562.2_Silent_p.Q2724Q	p.Q2761Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8392	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2761			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8283G>A																																																																																					0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		3	35	0	0	0	1	0	3	35				
CDH13	1012	broad.mit.edu	37	16	83636156	83636156	+	Missense_Mutation	SNP	T	T	A			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr16:83636156T>A	ENST00000566620.1	+	8	1348	c.1058T>A	c.(1057-1059)aTc>aAc	p.I353N	CDH13_ENST00000268613.10_Missense_Mutation_p.I400N|CDH13_ENST00000428848.3_Missense_Mutation_p.I314N	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	353	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		ACGATCATGATCGATGACAAA	0.453																																						ENST00000566620.1																			0				large_intestine(1)	1						c.(1057-1059)aTc>aAc		cadherin 13							186.0	183.0	184.0					16																	83636156		1951	4173	6124	SO:0001583	missense	1012				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding	g.chr16:83636156T>A	U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"""Cadherins / Major cadherins"""	1753	protein-coding gene	gene with protein product	"""T-cadherin"", ""H-cadherin (heart)"""	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.1058T>A	16.37:g.83636156T>A	ENSP00000454435:p.Ile353Asn					CDH13_ENST00000268613.10_Missense_Mutation_p.I400N|CDH13_ENST00000428848.3_Missense_Mutation_p.I314N	p.I353N	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN		COAD - Colon adenocarcinoma(5;0.0268)	8	1348	+		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)	353			Cadherin 2.		A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Missense_Mutation	SNP	ENST00000566620.1	37	c.1058T>A	CCDS58486.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.592403	0.86953	.	.	ENSG00000140945	ENST00000268613;ENST00000428848;ENST00000536143;ENST00000538855;ENST00000540531	T	0.59083	0.29	6.02	6.02	0.97574	Cadherin (5);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.81202	0.4773	M	0.91920	3.255	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.97110	0.994;0.997;1.0	D	0.85418	0.1141	9	0.87932	D	0	.	15.3796	0.74645	0.0:0.0:0.0:1.0	.	314;400;353	B7Z590;B7Z9B1;P55290	.;.;CAD13_HUMAN	N	400;353;314;55;43	ENSP00000268613:I400N	ENSP00000268613:I400N	I	+	2	0	CDH13	82193657	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	6.225000	0.72271	2.311000	0.77944	0.533000	0.62120	ATC		0.453	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257		34	115	0	0	0	1	0	34	115				
AOX1	316	broad.mit.edu	37	2	201499584	201499584	+	Silent	SNP	A	A	G			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr2:201499584A>G	ENST00000374700.2	+	21	2533	c.2292A>G	c.(2290-2292)ggA>ggG	p.G764G	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	764					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TTCCCAAGGGAGAGGATCAAG	0.413																																						ENST00000374700.2																			0				breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81						c.(2290-2292)ggA>ggG		aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						120.0	117.0	118.0					2																	201499584		2203	4300	6503	SO:0001819	synonymous_variant	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201499584A>G	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.2292A>G	2.37:g.201499584A>G						AOX1_ENST00000485106.1_3'UTR	p.G764G	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN			21	2533	+			764					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Silent	SNP	ENST00000374700.2	37	c.2292A>G	CCDS33360.1																																																																																				0.413	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		3	51	0	0	0	1	0	3	51				
TTC39C	125488	broad.mit.edu	37	18	21705426	21705426	+	Silent	SNP	G	G	T			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr18:21705426G>T	ENST00000317571.3	+	10	1568	c.1332G>T	c.(1330-1332)gcG>gcT	p.A444A	TTC39C_ENST00000540918.2_Silent_p.A137A|RNU5A-6P_ENST00000384136.1_RNA|TTC39C_ENST00000304621.6_Silent_p.A383A	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	444								p.A383A(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						CAACCAAAGCGCTCTGTGTGT	0.408																																						ENST00000540918.2																			1	Substitution - coding silent(1)	p.A383A(1)	lung(1)	breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						c.(409-411)gcG>gcT		tetratricopeptide repeat domain 39C							121.0	111.0	114.0					18																	21705426		2203	4300	6503	SO:0001819	synonymous_variant	125488						binding	g.chr18:21705426G>T	AK091080	CCDS32804.1, CCDS45839.1, CCDS58616.1	18q11.2	2014-02-07	2008-06-23	2008-06-23	ENSG00000168234	ENSG00000168234		"""Tetratricopeptide (TTC) repeat domain containing"""	26595	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 17"""	C18orf17		14702039	Standard	NM_153211		Approved	FLJ33761, HsT2697	uc002kuw.3	Q8N584	OTTHUMG00000179403	ENST00000317571.3:c.1332G>T	18.37:g.21705426G>T						TTC39C_ENST00000317571.3_Silent_p.A444A|TTC39C_ENST00000304621.6_Silent_p.A383A	p.A137A			Q8N584	TT39C_HUMAN			5	661	+			444					B7WP63|J3QRR1|Q0VAJ2|Q8N284	Silent	SNP	ENST00000317571.3	37	c.411G>T	CCDS45839.1																																																																																				0.408	TTC39C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446107.1	NM_153211		9	80	1	0	0.00829132	1	0.00875195	9	80				
MEGF11	84465	broad.mit.edu	37	15	66215182	66215182	+	Nonsense_Mutation	SNP	G	G	A	rs142480684	byFrequency	TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr15:66215182G>A	ENST00000409699.2	-	14	1973	c.1801C>T	c.(1801-1803)Cga>Tga	p.R601*	MEGF11_ENST00000395614.1_5'UTR|MEGF11_ENST00000288745.3_Nonsense_Mutation_p.R526*|MEGF11_ENST00000360698.4_Nonsense_Mutation_p.R601*|MEGF11_ENST00000422354.1_Nonsense_Mutation_p.R601*|MEGF11_ENST00000395625.2_Nonsense_Mutation_p.R526*			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	601	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.				homotypic cell-cell adhesion (GO:0034109)|retina layer formation (GO:0010842)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						AAGGGTCCTCGGAAGCCAGGG	0.617																																						ENST00000409699.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(1801-1803)Cga>Tga		multiple EGF-like-domains 11							46.0	52.0	50.0					15																	66215182		2201	4299	6500	SO:0001587	stop_gained	84465					basolateral plasma membrane|integral to membrane		g.chr15:66215182G>A	AB058677	CCDS10213.2	15q22.31	2006-03-31			ENSG00000157890	ENSG00000157890			29635	protein-coding gene	gene with protein product		612454				11347906	Standard	NM_032445		Approved	KIAA1781, DKFZp434L121	uc002apm.2	A6BM72	OTTHUMG00000133175	ENST00000409699.2:c.1801C>T	15.37:g.66215182G>A	ENSP00000386908:p.Arg601*					MEGF11_ENST00000395625.2_Nonsense_Mutation_p.R526*|MEGF11_ENST00000288745.3_Nonsense_Mutation_p.R526*|MEGF11_ENST00000360698.4_Nonsense_Mutation_p.R601*|MEGF11_ENST00000422354.1_Nonsense_Mutation_p.R601*|MEGF11_ENST00000395614.1_5'UTR	p.R601*			A6BM72	MEG11_HUMAN			14	1973	-			601			EGF-like 10.		Q17R86|Q6UXS5|Q8ND91|Q96KG6	Nonsense_Mutation	SNP	ENST00000409699.2	37	c.1801C>T	CCDS10213.2	.	.	.	.	.	.	.	.	.	.	G	37	6.452398	0.97577	.	.	ENSG00000157890	ENST00000409699;ENST00000288745;ENST00000422354;ENST00000395625;ENST00000360698	.	.	.	5.21	4.26	0.50523	.	0.000000	0.35970	U	0.002871	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9731	0.64255	0.0:0.0:0.7275:0.2725	.	.	.	.	X	601;526;601;526;601	.	ENSP00000288745:R526X	R	-	1	2	MEGF11	64002236	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.741000	0.38238	2.422000	0.82143	0.455000	0.32223	CGA		0.617	MEGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329307.2	NM_032445		3	33	0	0	0	1	0	3	33				
DICER1	23405	broad.mit.edu	37	14	95562162	95562162	+	Splice_Site	SNP	C	C	T			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr14:95562162C>T	ENST00000526495.1	-	25	5386	c.5095G>A	c.(5095-5097)Gat>Aat	p.D1699N	DICER1_ENST00000527414.1_Splice_Site_p.D1699N|DICER1_ENST00000343455.3_Splice_Site_p.D1699N|DICER1_ENST00000556045.1_Splice_Site_p.D597N|DICER1_ENST00000541352.1_Splice_Site_p.D1699N|DICER1_ENST00000393063.1_Splice_Site_p.D1699N			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1699	RNase III 2. {ECO:0000255|PROSITE- ProRule:PRU00177}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GGCTCCTTACCAGTGATAGTA	0.393			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													ENST00000526495.1			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"""Mis F, N"""	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma	"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""		0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75						c.e25+1		dicer 1, ribonuclease type III							62.0	60.0	61.0					14																	95562162		2203	4299	6502	SO:0001630	splice_region_variant	23405	Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95562162C>T	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.5095+1G>A	14.37:g.95562162C>T						DICER1_ENST00000541352.1_Splice_Site_p.D1699_splice|DICER1_ENST00000343455.3_Splice_Site_p.D1699_splice|DICER1_ENST00000556045.1_Splice_Site_p.D597_splice|DICER1_ENST00000527414.1_Splice_Site_p.D1699_splice|DICER1_ENST00000393063.1_Splice_Site_p.D1699_splice	p.D1699_splice			Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	25	5386	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	1699			RNase III 2.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Splice_Site	SNP	ENST00000526495.1	37	c.5095_splice	CCDS9931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.6|20.6	4.023646|4.023646	0.75390|0.75390	.|.	.|.	ENSG00000100697|ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000556045;ENST00000541352|ENST00000532939	T;T;T;T;D;T|.	0.87412|.	0.24;0.24;0.24;0.24;-2.25;0.57|.	5.78|5.78	5.78|5.78	0.91487|0.91487	Ribonuclease III (4);|.	0.108992|.	0.64402|.	D|.	0.000007|.	T|.	0.67887|.	0.2941|.	L|L	0.41415|0.41415	1.275|1.275	0.80722|0.80722	D|D	1|1	B;D|.	0.56521|.	0.32;0.976|.	B;D|.	0.66196|.	0.175;0.942|.	T|.	0.61811|.	-0.6986|.	10|.	0.15066|.	T|.	0.55|.	-24.0188|-24.0188	20.0204|20.0204	0.97499|0.97499	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	597;1699|.	B3KRG4;Q9UPY3|.	.;DICER_HUMAN|.	N|X	1699;1699;1699;1699;597;1699|377	ENSP00000343745:D1699N;ENSP00000437256:D1699N;ENSP00000376783:D1699N;ENSP00000435681:D1699N;ENSP00000451041:D597N;ENSP00000444719:D1699N|.	ENSP00000343745:D1699N|.	D|W	-|-	1|2	0|0	DICER1|DICER1	94631915|94631915	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	7.395000|7.395000	0.79876|0.79876	2.729000|2.729000	0.93468|0.93468	0.650000|0.650000	0.86243|0.86243	GAT|TGG		0.393	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1		Missense_Mutation	6	50	0	0	0	1	0	6	50				
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	lincRNA	SNP	C	C	T			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269																																						ENST00000423385.1																			0																																																			0							g.chr1:142803543C>T																													1.37:g.142803543C>T														0	1422	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.269	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			4	132	0	0	0	1	0	4	132				
PGAP1	80055	broad.mit.edu	37	2	197791205	197791205	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr2:197791205G>C	ENST00000354764.4	-	1	250	c.136C>G	c.(136-138)Ccg>Gcg	p.P46A	PGAP1_ENST00000485830.1_Intron|PGAP1_ENST00000409188.1_Intron|PGAP1_ENST00000409475.1_Missense_Mutation_p.P46A	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	46					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						TGATACTCCGGGTACTCAAAC	0.542																																						ENST00000354764.3																			0				breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						c.(136-138)Ccg>Gcg		post-GPI attachment to proteins 1							194.0	213.0	207.0					2																	197791205		2203	4300	6503	SO:0001583	missense	80055				attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity	g.chr2:197791205G>C		CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"""GPI inositol-deacylase"""	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.136C>G	2.37:g.197791205G>C	ENSP00000346809:p.Pro46Ala					PGAP1_ENST00000485830.1_Intron|PGAP1_ENST00000409188.1_Intron|PGAP1_ENST00000409475.1_Missense_Mutation_p.P46A	p.P46A	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN			1	250	-			46					Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Missense_Mutation	SNP	ENST00000354764.4	37	c.136C>G	CCDS2318.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.404371	0.62288	.	.	ENSG00000197121	ENST00000422382;ENST00000354764;ENST00000409475;ENST00000374738	.	.	.	4.16	4.16	0.48862	.	0.000000	0.85682	D	0.000000	T	0.75759	0.3893	M	0.69358	2.11	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.911;0.991	T	0.78969	-0.1994	9	0.87932	D	0	-6.2175	13.2964	0.60298	0.0:0.0:1.0:0.0	.	46;46	Q75T13-3;Q75T13	.;PGAP1_HUMAN	A	46	.	ENSP00000346809:P46A	P	-	1	0	PGAP1	197499450	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.894000	0.87336	2.158000	0.67659	0.313000	0.20887	CCG		0.542	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256103.5	NM_024989		7	212	0	0	0	1	0	7	212				
SMC2	10592	broad.mit.edu	37	9	106858474	106858474	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr9:106858474G>C	ENST00000286398.7	+	3	502	c.214G>C	c.(214-216)Gct>Cct	p.A72P	SMC2_ENST00000374787.3_Missense_Mutation_p.A72P|SMC2_ENST00000303219.8_Missense_Mutation_p.A72P|SMC2_ENST00000374793.3_Missense_Mutation_p.A72P	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	72					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						AAATGGGCAGGCTGGTATTAC	0.343																																						ENST00000286398.7																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						c.(214-216)Gct>Cct		structural maintenance of chromosomes 2							97.0	103.0	101.0					9																	106858474		2203	4300	6503	SO:0001583	missense	10592				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	g.chr9:106858474G>C	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.214G>C	9.37:g.106858474G>C	ENSP00000286398:p.Ala72Pro					SMC2_ENST00000303219.8_Missense_Mutation_p.A72P|SMC2_ENST00000374787.3_Missense_Mutation_p.A72P|SMC2_ENST00000374793.3_Missense_Mutation_p.A72P	p.A72P	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN			3	502	+			72					Q6IEE0|Q9P1P2	Missense_Mutation	SNP	ENST00000286398.7	37	c.214G>C	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.681901	0.88542	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000536893;ENST00000374787	T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32	5.43	4.48	0.54585	RecF/RecN/SMC (1);	0.049725	0.85682	D	0.000000	T	0.78886	0.4354	M	0.67700	2.07	0.58432	D	0.999998	P;D	0.71674	0.604;0.998	P;D	0.74674	0.524;0.984	T	0.81037	-0.1114	10	0.87932	D	0	-11.9491	13.7096	0.62661	0.0:0.0:0.8452:0.1548	.	72;72	O95347;Q2KQ72	SMC2_HUMAN;.	P	72	ENSP00000286398:A72P;ENSP00000363925:A72P;ENSP00000306152:A72P;ENSP00000363919:A72P	ENSP00000286398:A72P	A	+	1	0	SMC2	105898295	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.850000	0.86915	2.543000	0.85770	0.655000	0.94253	GCT		0.343	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			22	77	0	0	0	1	0	22	77				
HIC2	23119	broad.mit.edu	37	22	21800707	21800707	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr22:21800707C>T	ENST00000443632.2	+	2	1895	c.1523C>T	c.(1522-1524)tCg>tTg	p.S508L	HIC2_ENST00000407598.2_Missense_Mutation_p.S508L|HIC2_ENST00000407464.2_Missense_Mutation_p.S508L			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	508					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				TTCAAGTGTTCGGTCTGCGAG	0.652																																					NSCLC(23;437 858 2282 27947 40366)	ENST00000443632.2																			0				NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1522-1524)tCg>tTg		hypermethylated in cancer 2							43.0	45.0	45.0					22																	21800707		2203	4300	6503	SO:0001583	missense	23119				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding	g.chr22:21800707C>T	AB028943	CCDS13789.1	22q11.21	2013-01-09			ENSG00000169635	ENSG00000169635		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18595	protein-coding gene	gene with protein product		607712				11554746	Standard	NM_015094		Approved	KIAA1020, HRG22, ZBTB30, ZNF907	uc002zur.4	Q96JB3	OTTHUMG00000150781	ENST00000443632.2:c.1523C>T	22.37:g.21800707C>T	ENSP00000387757:p.Ser508Leu					HIC2_ENST00000407598.2_Missense_Mutation_p.S508L|HIC2_ENST00000407464.2_Missense_Mutation_p.S508L	p.S508L			Q96JB3	HIC2_HUMAN			2	1895	+	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)	508					Q504T6|Q96KR3|Q9NSM9|Q9UPX9	Missense_Mutation	SNP	ENST00000443632.2	37	c.1523C>T	CCDS13789.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.260801	0.80246	.	.	ENSG00000169635	ENST00000407464;ENST00000407598;ENST00000443632	T;T;T	0.07444	3.19;3.19;3.19	4.39	4.39	0.52855	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.070252	0.64402	D	0.000015	T	0.15782	0.0380	L	0.35854	1.095	0.49687	D	0.999818	D	0.62365	0.991	P	0.57283	0.817	T	0.00885	-1.1527	10	0.59425	D	0.04	.	14.4823	0.67592	0.0:1.0:0.0:0.0	.	508	Q96JB3	HIC2_HUMAN	L	508	ENSP00000385319:S508L;ENSP00000384889:S508L;ENSP00000387757:S508L	ENSP00000385319:S508L	S	+	2	0	HIC2	20130707	0.994000	0.37717	0.997000	0.53966	0.893000	0.52053	5.834000	0.69361	2.282000	0.76494	0.563000	0.77884	TCG		0.652	HIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320061.2			15	23	0	0	0	1	0	15	23				
LOC220729	220729	broad.mit.edu	37	3	197348646	197348646	+	RNA	SNP	T	T	C	rs377377382		TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr3:197348646T>C	ENST00000418868.1	-	0	613					NR_003266.2																						TGGGCCTGCCTGCCCTTTCCA	0.532																																						ENST00000418868.1																			0																																																			0							g.chr3:197348646T>C																													3.37:g.197348646T>C								NR_003266.2						0	613	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.532	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			5	97	0	0	0	1	0	5	97				
PPIF	10105	broad.mit.edu	37	10	81113578	81113578	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr10:81113578G>A	ENST00000225174.3	+	6	675	c.604G>A	c.(604-606)Gac>Aac	p.D202N	PPIF_ENST00000394579.3_3'UTR	NM_005729.3	NP_005720.1	P30405	PPIF_HUMAN	peptidylprolyl isomerase F	202	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				apoptotic mitochondrial changes (GO:0008637)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ATPase activity (GO:0032780)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of oxidative phosphorylation uncoupler activity (GO:2000276)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein folding (GO:0006457)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in programmed necrotic cell death (GO:1902445)|regulation of necrotic cell death (GO:0010939)|regulation of proton-transporting ATPase activity, rotational mechanism (GO:0010849)|response to ischemia (GO:0002931)	membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			endometrium(2)|lung(2)|skin(2)	6	all_cancers(46;0.0893)|Breast(12;8.52e-05)|all_epithelial(25;0.00449)|Prostate(51;0.00985)		Epithelial(14;0.00242)|all cancers(16;0.0069)|Colorectal(32;0.229)		Cyclosporine(DB00091)|L-Proline(DB00172)	TGTCATCACAGACTGTGGCCA	0.537																																						ENST00000225174.3																			0				endometrium(2)|lung(2)|skin(2)	6						c.(604-606)Gac>Aac		peptidylprolyl isomerase F	Dimethyl sulfoxide(DB01093)|L-Proline(DB00172)						114.0	94.0	100.0					10																	81113578		2203	4300	6503	SO:0001583	missense	10105				protein folding	membrane fraction|mitochondrial matrix	peptidyl-prolyl cis-trans isomerase activity	g.chr10:81113578G>A	M80254	CCDS7358.1	10q22-q23	2008-10-24	2008-10-24		ENSG00000108179	ENSG00000108179	5.2.1.8		9259	protein-coding gene	gene with protein product	"""cyclophilin D"""	604486	"""peptidylprolyl isomerase F (cyclophilin F)"""			1744118	Standard	NM_005729		Approved	hCyP3, Cyp-D	uc001kai.3	P30405	OTTHUMG00000018562	ENST00000225174.3:c.604G>A	10.37:g.81113578G>A	ENSP00000225174:p.Asp202Asn					PPIF_ENST00000394579.3_3'UTR	p.D202N	NM_005729.3	NP_005720.1	P30405	PPIF_HUMAN	Epithelial(14;0.00242)|all cancers(16;0.0069)|Colorectal(32;0.229)		6	675	+	all_cancers(46;0.0893)|Breast(12;8.52e-05)|all_epithelial(25;0.00449)|Prostate(51;0.00985)		202			PPIase cyclophilin-type.		Q2YDB7|Q5W131	Missense_Mutation	SNP	ENST00000225174.3	37	c.604G>A	CCDS7358.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.652721	0.88056	.	.	ENSG00000108179	ENST00000225174	T	0.43688	0.94	5.65	5.65	0.86999	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (3);Cyclophilin-like (1);	0.045464	0.85682	D	0.000000	T	0.52224	0.1721	N	0.25286	0.73	0.80722	D	1	D	0.71674	0.998	D	0.70935	0.971	T	0.50759	-0.8790	10	0.42905	T	0.14	-51.3002	19.3509	0.94384	0.0:0.0:1.0:0.0	.	202	P30405	PPIF_HUMAN	N	202	ENSP00000225174:D202N	ENSP00000225174:D202N	D	+	1	0	PPIF	80783584	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	7.570000	0.82390	2.655000	0.90218	0.655000	0.94253	GAC		0.537	PPIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048949.1	NM_005729		6	40	0	0	0	1	0	6	40				
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr17:45128792G>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AATTCAGGTTGTCAGAATGCA	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128792G>T																													17.37:g.45128792G>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			4	47	1	0	0.150653	1	0.150653	4	47				
OR2A4	79541	broad.mit.edu	37	6	132021829	132021829	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr6:132021829C>T	ENST00000315453.2	-	1	806	c.713G>A	c.(712-714)cGc>cAc	p.R238H	ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000414305.1_Intron	NM_030908.1	NP_112170.1	O95047	OR2A4_HUMAN	olfactory receptor, family 2, subfamily A, member 4	238					positive regulation of cytokinesis (GO:0032467)|regulation of actin cytoskeleton organization (GO:0032956)	cleavage furrow (GO:0032154)|Flemming body (GO:0090543)|integral component of membrane (GO:0016021)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|ovary(1)|skin(1)	3	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.018)|OV - Ovarian serous cystadenocarcinoma(155;0.041)		GAAGCAGGTGCGGAAGGCTTT	0.488																																						ENST00000315453.2																			0				large_intestine(1)|ovary(1)|skin(1)	3						c.(712-714)cGc>cAc		olfactory receptor, family 2, subfamily A, member 4							71.0	96.0	88.0					6																	132021829		1843	4252	6095	SO:0001583	missense	79541				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:132021829C>T	AC005587	CCDS5149.1	6q23	2012-08-09	2003-05-22		ENSG00000180658	ENSG00000180658		"""GPCR / Class A : Olfactory receptors"""	14729	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 10"""	OR2A10			Standard	NM_030908		Approved		uc011ecd.2	O95047	OTTHUMG00000016316	ENST00000315453.2:c.713G>A	6.37:g.132021829C>T	ENSP00000319546:p.Arg238His					ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000358229.5_Intron	p.R238H	NM_030908.1	NP_112170.1	O95047	OR2A4_HUMAN		GBM - Glioblastoma multiforme(226;0.018)|OV - Ovarian serous cystadenocarcinoma(155;0.041)	1	806	-	Breast(56;0.0753)		238					Q0VAR3|Q6IF18|Q9NQN0	Missense_Mutation	SNP	ENST00000315453.2	37	c.713G>A	CCDS5149.1	.	.	.	.	.	.	.	.	.	.	-	2.535	-0.307544	0.05458	.	.	ENSG00000180658	ENST00000315453	T	0.00099	8.73	1.65	1.65	0.23941	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36628	U	0.002490	T	0.00012	0.0000	N	0.01874	-0.695	0.09310	N	1	B	0.19935	0.04	B	0.11329	0.006	T	0.32745	-0.9895	10	0.56958	D	0.05	.	7.9443	0.29976	0.0:0.2593:0.7407:0.0	.	238	O95047	OR2A4_HUMAN	H	238	ENSP00000319546:R238H	ENSP00000319546:R238H	R	-	2	0	OR2A4	132063522	0.099000	0.21834	0.442000	0.26870	0.000000	0.00434	-0.098000	0.11024	0.032000	0.15435	0.000000	0.15137	CGC		0.488	OR2A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109221.1	NM_030908		11	133	0	0	0	1	0	11	133				
TRIM49C	642612	broad.mit.edu	37	11	89774252	89774252	+	Missense_Mutation	SNP	G	G	A	rs201409537		TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr11:89774252G>A	ENST00000448984.1	+	8	1222	c.893G>A	c.(892-894)aGt>aAt	p.S298N	TRIM49C_ENST00000432771.1_Intron	NM_001195234.1	NP_001182163.1	P0CI26	TR49C_HUMAN	tripartite motif containing 49C	298	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.S298N(4)		endometrium(3)|kidney(1)|lung(4)	8						GAAGCCAACAGTGATATCTTT	0.323																																						ENST00000448984.1																			4	Substitution - Missense(4)	p.S298N(4)	endometrium(2)|kidney(2)	endometrium(3)|kidney(1)|lung(4)	8						c.(892-894)aGt>aAt		tripartite motif containing 49C																																				SO:0001583	missense	642612					intracellular	zinc ion binding	g.chr11:89774252G>A	BC126470	CCDS53694.1	11q14.3	2014-02-17	2012-05-18	2012-05-18	ENSG00000204449	ENSG00000204449		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	38877	protein-coding gene	gene with protein product			"""tripartite motif containing 49-like 2"""	TRIM49L2			Standard	NM_001195234		Approved		uc010rua.2	P0CI26		ENST00000448984.1:c.893G>A	11.37:g.89774252G>A	ENSP00000388299:p.Ser298Asn					TRIM49C_ENST00000432771.1_Intron	p.S298N	NM_001195234.1	NP_001182163.1	P0CI26	T49L2_HUMAN			8	1222	+			298			B30.2/SPRY.		A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Missense_Mutation	SNP	ENST00000448984.1	37	c.893G>A	CCDS53694.1	.	.	.	.	.	.	.	.	.	.	g	0.625	-0.819420	0.02776	.	.	ENSG00000204449	ENST00000448984	T	0.04809	3.55	0.823	-0.634	0.11516	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.04452	0.0122	L	0.52206	1.635	0.09310	N	1	B	0.12013	0.005	B	0.14023	0.01	T	0.43605	-0.9381	8	.	.	.	.	3.2016	0.06651	0.4432:0.0:0.5568:0.0	rs672762;rs9666958;rs16912727;rs672762	298	P0CI26	T49L2_HUMAN	N	298	ENSP00000388299:S298N	.	S	+	2	0	TRIM49L2	89413900	0.000000	0.05858	0.001000	0.08648	0.034000	0.12701	-1.058000	0.03482	-0.239000	0.09710	0.305000	0.20034	AGT		0.323	TRIM49C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395455.1	NM_001195234		4	76	0	0	0	1	0	4	76				
LRRC37A4P	55073	broad.mit.edu	37	17	43587730	43587730	+	RNA	SNP	A	A	C			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr17:43587730A>C	ENST00000579913.1	-	0	1394				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		GTATTGATTCATTTTATTCAT	0.343																																						ENST00000253803.2																			0																																																			0							g.chr17:43587730A>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587730A>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.343	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		3	54	0	0	0	1	0	3	54				
SRPK1	6732	broad.mit.edu	37	6	35810383	35810383	+	Splice_Site	SNP	T	T	A	rs372527508|rs371577081	byFrequency	TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr6:35810383T>A	ENST00000373825.2	-	14	1906		c.e14-2		SRPK1_ENST00000373822.1_Splice_Site|SRPK1_ENST00000423325.2_Splice_Site					SRSF protein kinase 1									p.?(2)		endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						TTCAAAGGCCTAAAAAAAAAA	0.418																																					NSCLC(31;67 978 16289 24856 26454)	ENST00000373825.2																			2	Unknown(2)	p.?(2)	prostate(2)	endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.e14-2		SRSF protein kinase 1							55.0	50.0	52.0					6																	35810383		1838	4093	5931	SO:0001630	splice_region_variant	6732				cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr6:35810383T>A	U09564	CCDS47415.1	6p21.31	2010-06-23	2010-06-23		ENSG00000096063	ENSG00000096063			11305	protein-coding gene	gene with protein product	"""SR protein kinase 1"", ""serine/arginine-rich splicing factor kinase 1"""	601939	"""SFRS protein kinase 1"""			8208298, 10198174	Standard	NM_003137		Approved	SFRSK1	uc003olj.3	Q96SB4	OTTHUMG00000014583	ENST00000373825.2:c.1621-2A>T	6.37:g.35810383T>A						SRPK1_ENST00000423325.2_Splice_Site|SRPK1_ENST00000373822.1_Splice_Site				Q96SB4	SRPK1_HUMAN			14	1906	-									Splice_Site	SNP	ENST00000373825.2	37		CCDS47415.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.331210	0.81690	.	.	ENSG00000096063	ENST00000373825;ENST00000361690;ENST00000423325;ENST00000373822	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1951	0.73081	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SRPK1	35918361	1.000000	0.71417	0.998000	0.56505	0.885000	0.51271	7.651000	0.83577	2.051000	0.60960	0.402000	0.26972	.		0.418	SRPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040319.3	NM_003137	Intron	3	29	0	0	0	1	0	3	29				
BMP5	653	broad.mit.edu	37	6	55684508	55684508	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr6:55684508C>A	ENST00000370830.3	-	2	1326	c.628G>T	c.(628-630)Gaa>Taa	p.E210*	BMP5_ENST00000446683.2_Nonsense_Mutation_p.E210*	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	210					cartilage development (GO:0051216)|growth (GO:0040007)|male genitalia development (GO:0030539)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of steroid biosynthetic process (GO:0010894)|ossification (GO:0001503)|pattern specification process (GO:0007389)|positive regulation of dendrite development (GO:1900006)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)|type B pancreatic cell development (GO:0003323)	extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			GTTTCATTTTCAAATCGGTTG	0.328																																						ENST00000370830.3																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45						c.(628-630)Gaa>Taa		bone morphogenetic protein 5							101.0	93.0	96.0					6																	55684508		2203	4300	6503	SO:0001587	stop_gained	653				cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr6:55684508C>A		CCDS4958.1	6p12.1	2014-01-30			ENSG00000112175	ENSG00000112175		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1072	protein-coding gene	gene with protein product		112265				1427904, 11580864	Standard	NM_021073		Approved		uc003pcq.3	P22003	OTTHUMG00000014903	ENST00000370830.3:c.628G>T	6.37:g.55684508C>A	ENSP00000359866:p.Glu210*					BMP5_ENST00000446683.2_Nonsense_Mutation_p.E210*	p.E210*	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		2	1326	-	Lung NSC(77;0.0462)		210					B4E0Y4|Q9H547|Q9NTM5	Nonsense_Mutation	SNP	ENST00000370830.3	37	c.628G>T	CCDS4958.1	.	.	.	.	.	.	.	.	.	.	C	44	11.169431	0.99525	.	.	ENSG00000112175	ENST00000370830;ENST00000446683	.	.	.	5.74	5.74	0.90152	.	0.107337	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	19.9403	0.97159	0.0:1.0:0.0:0.0	.	.	.	.	X	210	.	ENSP00000359866:E210X	E	-	1	0	BMP5	55792467	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.763000	0.68818	2.712000	0.92718	0.650000	0.86243	GAA		0.328	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041000.1			24	79	1	0	5.35356e-11	1	6.10306e-11	24	79				
POLR3B	55703	broad.mit.edu	37	12	106820975	106820975	+	Splice_Site	SNP	C	C	T	rs201079775		TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr12:106820975C>T	ENST00000228347.4	+	13	1324	c.1102C>T	c.(1102-1104)Ctt>Ttt	p.L368F	POLR3B_ENST00000549195.1_3'UTR|POLR3B_ENST00000539066.1_Splice_Site_p.L310F	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	368					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.L368F(4)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTTTTTTAGCTTTTATCTCT	0.274																																						ENST00000228347.4																			4	Substitution - Missense(4)	p.L368F(4)	kidney(3)|lung(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						c.e13-1		polymerase (RNA) III (DNA directed) polypeptide B							10.0	11.0	10.0					12																	106820975		2176	4287	6463	SO:0001630	splice_region_variant	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106820975C>T	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.1102-1C>T	12.37:g.106820975C>T						POLR3B_ENST00000549195.1_3'UTR|POLR3B_ENST00000539066.1_Splice_Site_p.L310_splice	p.L368_splice	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN			13	1324	+			368					A8K6H0|B3KV73|F5H1E6|Q9NW59	Splice_Site	SNP	ENST00000228347.4	37	c.1101_splice	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929826	0.92389	.	.	ENSG00000013503	ENST00000228347;ENST00000551370;ENST00000539066;ENST00000549569;ENST00000549195	T;T;D	0.81996	-1.44;-1.44;-1.56	5.62	5.62	0.85841	RNA polymerase, beta subunit, protrusion (1);	0.000000	0.85682	D	0.000000	D	0.93818	0.8023	H	0.97682	4.055	0.80722	D	1	B	0.33807	0.426	P	0.49597	0.616	D	0.93705	0.7019	9	.	.	.	-18.9461	20.02	0.97489	0.0:1.0:0.0:0.0	.	368	Q9NW08	RPC2_HUMAN	F	368;368;310;126;31	ENSP00000228347:L368F;ENSP00000445721:L310F;ENSP00000448398:L126F	.	L	+	1	0	POLR3B	105345105	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.150000	0.77403	2.809000	0.96659	0.557000	0.71058	CTT		0.274	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082	Missense_Mutation	6	20	0	0	0	1	0	6	20				
GDPD4	220032	broad.mit.edu	37	11	76980034	76980034	+	Missense_Mutation	SNP	A	A	C			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr11:76980034A>C	ENST00000376217.2	-	8	809	c.559T>G	c.(559-561)Tgc>Ggc	p.C187G	GDPD4_ENST00000315938.4_Missense_Mutation_p.C187G|GDPD4_ENST00000527489.1_5'Flank			Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	187					glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						TCCTGAATGCAGGGAGAATAA	0.438																																						ENST00000315938.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						c.(559-561)Tgc>Ggc		glycerophosphodiester phosphodiesterase domain containing 4							114.0	110.0	112.0					11																	76980034		2200	4292	6492	SO:0001583	missense	220032				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	g.chr11:76980034A>C	AY326450	CCDS8249.1	11q13.5	2008-02-05			ENSG00000178795	ENSG00000178795			24849	protein-coding gene	gene with protein product							Standard	NM_182833		Approved	GDE6	uc001oyf.3	Q6W3E5	OTTHUMG00000165136	ENST00000376217.2:c.559T>G	11.37:g.76980034A>C	ENSP00000365390:p.Cys187Gly					GDPD4_ENST00000376217.2_Missense_Mutation_p.C187G	p.C187G	NM_182833.1	NP_878253.1	Q6W3E5	GDPD4_HUMAN			8	809	-			187					Q7Z5B0	Missense_Mutation	SNP	ENST00000376217.2	37	c.559T>G		.	.	.	.	.	.	.	.	.	.	A	18.80	3.701994	0.68501	.	.	ENSG00000178795	ENST00000376217;ENST00000315938	T;T	0.18016	2.24;2.31	5.07	5.07	0.68467	.	0.048437	0.85682	D	0.000000	T	0.44244	0.1284	M	0.82193	2.58	0.39621	D	0.970035	D	0.89917	1.0	D	0.87578	0.998	T	0.51395	-0.8711	10	0.72032	D	0.01	-20.3193	12.4733	0.55799	1.0:0.0:0.0:0.0	.	187	Q6W3E5-2	.	G	187	ENSP00000365390:C187G;ENSP00000320815:C187G	ENSP00000320815:C187G	C	-	1	0	GDPD4	76657682	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.346000	0.72999	2.136000	0.66102	0.533000	0.62120	TGC		0.438	GDPD4-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382075.1	NM_182833		53	94	0	0	0	1	0	53	94				
NPY2R	4887	broad.mit.edu	37	4	156135918	156135918	+	Missense_Mutation	SNP	T	T	A			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr4:156135918T>A	ENST00000329476.3	+	2	1316	c.827T>A	c.(826-828)gTg>gAg	p.V276E	NPY2R_ENST00000506608.1_Missense_Mutation_p.V276E	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	276					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral fear response (GO:0001662)|cardiac left ventricle morphogenesis (GO:0003214)|locomotory behavior (GO:0007626)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neurological system process (GO:0031645)|negative regulation of secretion (GO:0051048)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuropeptide signaling pathway (GO:0007218)|nitric oxide mediated signal transduction (GO:0007263)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell adhesion (GO:0045785)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of peptide secretion (GO:0002793)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of sensory perception of pain (GO:0051930)|secretion (GO:0046903)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|neuropeptide Y receptor activity (GO:0004983)|peptide YY receptor activity (GO:0001601)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)			Cysteamine(DB00847)	GTGGTGGTGGTGTTTGCGGTC	0.512																																						ENST00000329476.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36						c.(826-828)gTg>gAg		neuropeptide Y receptor Y2							108.0	100.0	103.0					4																	156135918		2203	4300	6503	SO:0001583	missense	4887				cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	g.chr4:156135918T>A	U42766	CCDS3791.1	4q31	2012-08-08				ENSG00000185149		"""GPCR / Class A : Neuropeptide receptors : Y"""	7957	protein-coding gene	gene with protein product		162642				7559383	Standard	NM_000910		Approved		uc003ioq.3	P49146		ENST00000329476.3:c.827T>A	4.37:g.156135918T>A	ENSP00000332591:p.Val276Glu					NPY2R_ENST00000506608.1_Missense_Mutation_p.V276E	p.V276E	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN			2	1316	+	all_hematologic(180;0.24)	Renal(120;0.0854)	276					Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Missense_Mutation	SNP	ENST00000329476.3	37	c.827T>A	CCDS3791.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.040868	0.75732	.	.	ENSG00000185149	ENST00000329476;ENST00000506608	T;T	0.58506	0.33;0.33	5.95	5.95	0.96441	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.80722	0.4677	M	0.90145	3.09	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84807	0.0788	10	0.87932	D	0	.	15.5947	0.76569	0.0:0.0:0.0:1.0	.	276	P49146	NPY2R_HUMAN	E	276	ENSP00000332591:V276E;ENSP00000426366:V276E	ENSP00000332591:V276E	V	+	2	0	NPY2R	156355368	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.289000	0.72696	2.274000	0.75844	0.523000	0.50628	GTG		0.512	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365128.1	NM_000910		7	33	0	0	0	1	0	7	33				
KCNC4	3749	broad.mit.edu	37	1	110774894	110774894	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr1:110774894G>T	ENST00000369787.3	+	4	1898	c.1871G>T	c.(1870-1872)tGc>tTc	p.C624F	KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000413138.3_Intron|KCNC4_ENST00000438661.2_Intron	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	624					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GAGGCTGCATGCCCTCCAACT	0.547																																						ENST00000369787.3																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32						c.(1870-1872)tGc>tTc		potassium voltage-gated channel, Shaw-related subfamily, member 4							92.0	68.0	76.0					1																	110774894		2203	4300	6503	SO:0001583	missense	3749				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr1:110774894G>T	BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6236	protein-coding gene	gene with protein product		176265	"""chromosome 1 open reading frame 30"""	C1orf30		1920536, 1740329, 16382104	Standard	NM_004978		Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000369787.3:c.1871G>T	1.37:g.110774894G>T	ENSP00000358802:p.Cys624Phe					KCNC4_ENST00000413138.3_Intron|KCNC4_ENST00000438661.2_Intron|KCNC4_ENST00000412512.2_Intron	p.C624F	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)	4	1898	+		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	624					Q3MIM4|Q5TBI6	Missense_Mutation	SNP	ENST00000369787.3	37	c.1871G>T	CCDS821.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.292140	0.40594	.	.	ENSG00000116396	ENST00000369787	D	0.97688	-4.49	2.21	-0.923	0.10465	.	7739.210000	0.00166	N	0.000000	D	0.85767	0.5773	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	D	0.83929	0.0305	10	0.41790	T	0.15	.	5.019	0.14352	0.5194:0.0:0.4806:0.0	.	624	Q03721	KCNC4_HUMAN	F	624	ENSP00000358802:C624F	ENSP00000358802:C624F	C	+	2	0	KCNC4	110576417	0.000000	0.05858	0.000000	0.03702	0.991000	0.79684	0.290000	0.18975	-0.246000	0.09611	0.655000	0.94253	TGC		0.547	KCNC4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052146.2	NM_001039574		3	11	1	0	0.115264	1	0.117322	3	11				
POLR2B	5431	broad.mit.edu	37	4	57856954	57856954	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr4:57856954G>T	ENST00000381227.1	+	4	546	c.133G>T	c.(133-135)Gat>Tat	p.D45Y	POLR2B_ENST00000431623.2_Intron|POLR2B_ENST00000441246.2_Missense_Mutation_p.D38Y|POLR2B_ENST00000314595.5_Missense_Mutation_p.D45Y			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	45					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					ACAACAGCTGGATTCTTTTGA	0.408																																						ENST00000381227.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52						c.(133-135)Gat>Tat		polymerase (RNA) II (DNA directed) polypeptide B, 140kDa							135.0	136.0	136.0					4																	57856954		2203	4300	6503	SO:0001583	missense	5431				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr4:57856954G>T		CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.133G>T	4.37:g.57856954G>T	ENSP00000370625:p.Asp45Tyr					POLR2B_ENST00000441246.2_Missense_Mutation_p.D38Y|POLR2B_ENST00000314595.5_Missense_Mutation_p.D45Y|POLR2B_ENST00000431623.2_Intron	p.D45Y			P30876	RPB2_HUMAN			4	546	+	Glioma(25;0.08)|all_neural(26;0.181)		45					A8K1A8|Q8IZ61	Missense_Mutation	SNP	ENST00000381227.1	37	c.133G>T	CCDS3511.1	.	.	.	.	.	.	.	.	.	.	G	31	5.061513	0.93846	.	.	ENSG00000047315	ENST00000450656;ENST00000381227;ENST00000441246;ENST00000433463;ENST00000314595	T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28	5.9	5.9	0.94986	RNA polymerase, beta subunit, protrusion (1);	0.000000	0.85682	D	0.000000	D	0.92625	0.7657	M	0.92122	3.275	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.93451	0.6802	10	0.87932	D	0	.	20.2822	0.98520	0.0:0.0:1.0:0.0	.	45	P30876	RPB2_HUMAN	Y	45;45;38;38;45	ENSP00000408638:D45Y;ENSP00000370625:D45Y;ENSP00000391452:D38Y;ENSP00000407728:D38Y;ENSP00000312735:D45Y	ENSP00000312735:D45Y	D	+	1	0	POLR2B	57551711	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.859000	0.99545	2.806000	0.96561	0.655000	0.94253	GAT		0.408	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938		30	96	1	0	3.00307e-07	1	3.35637e-07	30	96				
TP53	7157	broad.mit.edu	37	17	7578526	7578526	+	Missense_Mutation	SNP	C	C	T	rs587781991		TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr17:7578526C>T	ENST00000269305.4	-	5	593	c.404G>A	c.(403-405)tGc>tAc	p.C135Y	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.C135Y|TP53_ENST00000455263.2_Missense_Mutation_p.C135Y|TP53_ENST00000445888.2_Missense_Mutation_p.C135Y|TP53_ENST00000413465.2_Missense_Mutation_p.C135Y|TP53_ENST00000359597.4_Missense_Mutation_p.C135Y	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	135	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C135Y(60)|p.C135F(43)|p.C135S(8)|p.0?(8)|p.C42Y(4)|p.C3Y(4)|p.C135fs*9(3)|p.N131fs*27(2)|p.C3F(2)|p.C42F(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*15(1)|p.C135fs*14(1)|p.Y126fs*11(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.C42S(1)|p.M133fs*13(1)|p.C3S(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCCAGTTGGCAAAACATCTT	0.572		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		152	Substitution - Missense(126)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(4)|Insertion - Frameshift(3)|Complex - deletion inframe(1)	p.C135Y(60)|p.C135F(43)|p.C135S(8)|p.0?(8)|p.C42Y(4)|p.C3Y(4)|p.C135fs*9(3)|p.N131fs*27(2)|p.C3F(2)|p.C42F(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*15(1)|p.C135fs*14(1)|p.Y126fs*11(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.C42S(1)|p.M133fs*13(1)|p.C3S(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(1)	large_intestine(19)|breast(17)|oesophagus(16)|haematopoietic_and_lymphoid_tissue(13)|urinary_tract(13)|upper_aerodigestive_tract(12)|prostate(11)|lung(9)|ovary(9)|liver(7)|bone(6)|stomach(5)|central_nervous_system(5)|soft_tissue(2)|autonomic_ganglia(2)|eye(1)|kidney(1)|pancreas(1)|skin(1)|NS(1)|pituitary(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(403-405)tGc>tAc	Other conserved DNA damage response genes	tumor protein p53							50.0	50.0	50.0					17																	7578526		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578526C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.404G>A	17.37:g.7578526C>T	ENSP00000269305:p.Cys135Tyr	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000455263.2_Missense_Mutation_p.C135Y|TP53_ENST00000269305.4_Missense_Mutation_p.C135Y|TP53_ENST00000359597.4_Missense_Mutation_p.C135Y|TP53_ENST00000445888.2_Missense_Mutation_p.C135Y|TP53_ENST00000413465.2_Missense_Mutation_p.C135Y	p.C135Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	536	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	135		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.404G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.639320	0.87760	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99800	-6.8;-6.8;-6.8;-6.8;-6.8;-6.8;-6.8;-6.8;-6.8	5.48	5.48	0.80851	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99771	0.9906	M	0.85945	2.785	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.993;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;1.0;0.929;1.0;1.0;1.0;1.0	D	0.97312	0.9938	10	0.87932	D	0	-26.815	17.2272	0.86973	0.0:1.0:0.0:0.0	.	96;135;135;42;135;135;135	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Y	135;135;135;135;135;135;124;42;3;42;3;135	ENSP00000410739:C135Y;ENSP00000352610:C135Y;ENSP00000269305:C135Y;ENSP00000398846:C135Y;ENSP00000391127:C135Y;ENSP00000391478:C135Y;ENSP00000425104:C3Y;ENSP00000423862:C42Y;ENSP00000424104:C135Y	ENSP00000269305:C135Y	C	-	2	0	TP53	7519251	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	7.772000	0.85439	2.733000	0.93635	0.655000	0.94253	TGC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		10	19	0	0	0	1	0	10	19				
KCNK2	3776	broad.mit.edu	37	1	215342562	215342562	+	Missense_Mutation	SNP	C	C	T	rs576428312		TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr1:215342562C>T	ENST00000444842.2	+	4	646	c.496C>T	c.(496-498)Cgc>Tgc	p.R166C	KCNK2_ENST00000391894.2_Missense_Mutation_p.R151C|KCNK2_ENST00000391895.2_Missense_Mutation_p.R162C	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	166					G-protein coupled receptor signaling pathway (GO:0007186)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|potassium ion leak channel activity (GO:0022841)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)|Dronedarone(DB04855)	CATCTCACCACGCACAGAAGG	0.368													C|||	1	0.000199681	0.0	0.0	5008	,	,		13577	0.0		0.001	False		,,,				2504	0.0					ENST00000444842.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30						c.(496-498)Cgc>Tgc		potassium channel, subfamily K, member 2	Dofetilide(DB00204)						131.0	135.0	134.0					1																	215342562		2203	4300	6503	SO:0001583	missense	3776						outward rectifier potassium channel activity	g.chr1:215342562C>T	AF004711	CCDS31024.1, CCDS41466.1, CCDS41467.1	1q41	2012-03-07			ENSG00000082482	ENSG00000082482		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6277	protein-coding gene	gene with protein product		603219				9721223, 16382106	Standard	NM_001017424		Approved	K2p2.1, TREK-1	uc001hkr.4	O95069	OTTHUMG00000037017	ENST00000444842.2:c.496C>T	1.37:g.215342562C>T	ENSP00000394033:p.Arg166Cys					KCNK2_ENST00000391895.2_Missense_Mutation_p.R162C|KCNK2_ENST00000391894.2_Missense_Mutation_p.R151C	p.R166C	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	4	646	+			166					A1Z1V3|A8K618|B2RCS4|B7ZL56|D3DTA5|Q5DP47|Q5DP48|Q9NRT2|Q9UNE3	Missense_Mutation	SNP	ENST00000444842.2	37	c.496C>T	CCDS41467.1	.	.	.	.	.	.	.	.	.	.	C	32	5.183862	0.94885	.	.	ENSG00000082482	ENST00000391895;ENST00000478774;ENST00000391894;ENST00000444842;ENST00000457122	T;T;T;T;T	0.31769	1.82;1.48;1.82;1.82;1.82	6.16	6.16	0.99307	Ion transport 2 (1);	0.043217	0.85682	D	0.000000	T	0.60521	0.2275	M	0.82716	2.605	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	P;P;D	0.64042	0.886;0.892;0.921	T	0.59994	-0.7349	10	0.54805	T	0.06	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	151;166;162	O95069-2;O95069;O95069-3	.;KCNK2_HUMAN;.	C	162;110;151;166;110	ENSP00000375765:R162C;ENSP00000420569:R110C;ENSP00000375764:R151C;ENSP00000394033:R166C;ENSP00000413460:R110C	ENSP00000375764:R151C	R	+	1	0	KCNK2	213409185	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.779000	0.68948	2.937000	0.99478	0.650000	0.86243	CGC		0.368	KCNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089856.2	NM_014217		21	74	0	0	0	1	0	21	74				
PSG7	5676	broad.mit.edu	37	19	43430101	43430101	+	RNA	SNP	G	G	A	rs200190947		TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr19:43430101G>A	ENST00000406070.2	-	0	1163				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				GTTAGAGTCCGCAAAGCAGGA	0.448																																						ENST00000446844.3																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)		G	VAL/ALA,VAL/ALA	1,4401		0,1,2200	162.0	171.0	168.0		701,1067	0.2	0.0	19		168	3,8597		0,3,4297	no	missense,missense	PSG7	NM_001206650.1,NM_002783.2	64,64	0,4,6497	AA,AG,GG		0.0349,0.0227,0.0308	,	234/298,356/420	43430101	4,12998	2201	4300	6501			5676				female pregnancy	extracellular region		g.chr19:43430101G>A			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43430101G>A						PSG7_ENST00000406070.2_RNA				Q13046	PSG7_HUMAN			0	1156	-		Prostate(69;0.00682)						Q15232	RNA	SNP	ENST00000406070.2	37																																																																																						0.448	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		4	150	0	0	0	1	0	4	150				
CFLAR	8837	broad.mit.edu	37	2	202025331	202025331	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr2:202025331G>A	ENST00000309955.3	+	9	1485	c.970G>A	c.(970-972)Gtg>Atg	p.V324M	CFLAR_ENST00000340870.5_Missense_Mutation_p.V324M|CFLAR_ENST00000443227.1_Missense_Mutation_p.V228M|CFLAR_ENST00000341582.6_Missense_Mutation_p.V289M|CFLAR_ENST00000457277.1_Missense_Mutation_p.V324M|CFLAR_ENST00000479953.2_Missense_Mutation_p.V228M|CFLAR-AS1_ENST00000415011.2_RNA|CFLAR_ENST00000355558.4_Intron|CFLAR_ENST00000423241.2_Missense_Mutation_p.V324M	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	324	Caspase.|Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 subunits p18 and p10.|Not proteolytically processed and involved in apoptosis inhibition.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of myoblast fusion (GO:1901740)|positive regulation of catalytic activity (GO:0043085)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of necroptotic process (GO:0060544)|regulation of satellite cell proliferation (GO:0014842)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|skeletal myofibril assembly (GO:0014866)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|ripoptosome (GO:0097342)	cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|enzyme activator activity (GO:0008047)|protease binding (GO:0002020)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						TGTGTATGGTGTGGATCAGAC	0.522																																					Pancreas(16;548 657 22190 32864 42338)	ENST00000309955.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						c.(970-972)Gtg>Atg		CASP8 and FADD-like apoptosis regulator							147.0	130.0	136.0					2																	202025331		2203	4300	6503	SO:0001583	missense	8837				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding	g.chr2:202025331G>A	AF005774	CCDS2337.1, CCDS46487.1, CCDS56157.1, CCDS56158.1, CCDS59436.1	2q33-q34	2014-01-30			ENSG00000003402	ENSG00000003402		"""Endogenous ligands"""	1876	protein-coding gene	gene with protein product		603599		CASP8AP1		9208847, 9217161	Standard	NM_003879		Approved	CASH, Casper, CLARP, FLAME, FLIP, I-FLICE, MRIT, c-FLIP	uc002uxb.4	O15519	OTTHUMG00000132819	ENST00000309955.3:c.970G>A	2.37:g.202025331G>A	ENSP00000312455:p.Val324Met					CFLAR_ENST00000479953.2_Missense_Mutation_p.V228M|CFLAR_ENST00000341582.6_Missense_Mutation_p.V289M|CFLAR_ENST00000457277.1_Missense_Mutation_p.V324M|CFLAR_ENST00000423241.2_Missense_Mutation_p.V324M|CFLAR_ENST00000355558.4_Intron|CFLAR_ENST00000340870.5_Missense_Mutation_p.V324M|CFLAR_ENST00000443227.1_Missense_Mutation_p.V228M	p.V324M	NM_003879.5	NP_003870.4	O15519	CFLAR_HUMAN			9	1485	+			324			Caspase.|Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 subunits p18 and p10.|Not proteolytically processed and involved in apoptosis inhibition.		B4DJE0|B7Z9F9|O14673|O14674|O14675|O15137|O15138|O15356|O15510|O43618|O43619|O43620|O60458|O60459|Q53TS6|Q54AF1|Q96TE4|Q9UEW1	Missense_Mutation	SNP	ENST00000309955.3	37	c.970G>A	CCDS2337.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.588551	0.28357	.	.	ENSG00000003402	ENST00000309955;ENST00000443227;ENST00000340870;ENST00000343375;ENST00000341582;ENST00000423241;ENST00000457277	T;T;T;T;T;T	0.20881	2.04;2.04;2.04;2.04;2.04;2.04	5.62	1.66	0.24008	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	0.603736	0.17573	N	0.169415	T	0.38639	0.1048	M	0.79475	2.455	0.09310	N	1	D;D;D;D	0.69078	0.961;0.997;0.967;0.994	D;D;P;D	0.67900	0.929;0.954;0.859;0.954	T	0.12344	-1.0551	10	0.56958	D	0.05	-3.1191	4.7893	0.13241	0.3955:0.0:0.4648:0.1397	.	228;324;289;324	O15519-3;O15519-11;O15519-8;O15519	.;.;.;CFLAR_HUMAN	M	324;228;324;210;289;324;324	ENSP00000312455:V324M;ENSP00000413270:V228M;ENSP00000339326:V324M;ENSP00000345807:V289M;ENSP00000399420:V324M;ENSP00000411535:V324M	ENSP00000312455:V324M	V	+	1	0	CFLAR	201733576	0.006000	0.16342	0.065000	0.19835	0.006000	0.05464	0.619000	0.24388	0.287000	0.22375	-0.324000	0.08512	GTG		0.522	CFLAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256276.3	NM_003879		14	75	0	0	0	1	0	14	75				
RNF215	200312	broad.mit.edu	37	22	30780470	30780470	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr22:30780470G>A	ENST00000382363.3	-	5	676	c.602C>T	c.(601-603)aCg>aTg	p.T201M		NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN	ring finger protein 215	201						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						GATCTCAGCCGTGGCCTGGGT	0.617																																						ENST00000382363.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						c.(601-603)aCg>aTg		ring finger protein 215							74.0	61.0	65.0					22																	30780470		2203	4300	6503	SO:0001583	missense	200312					integral to membrane	zinc ion binding	g.chr22:30780470G>A		CCDS33633.1	22q12.2	2013-01-09			ENSG00000099999	ENSG00000099999		"""RING-type (C3HC4) zinc fingers"""	33434	protein-coding gene	gene with protein product							Standard	NM_001017981		Approved		uc003ahp.3	Q9Y6U7	OTTHUMG00000151016	ENST00000382363.3:c.602C>T	22.37:g.30780470G>A	ENSP00000371800:p.Thr201Met						p.T201M	NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN			5	676	-			201					A6NEL1	Missense_Mutation	SNP	ENST00000382363.3	37	c.602C>T	CCDS33633.1	.	.	.	.	.	.	.	.	.	.	G	10.71	1.427540	0.25726	.	.	ENSG00000099999	ENST00000382363	T	0.44083	0.93	4.67	2.58	0.30949	.	0.126562	0.52532	D	0.000069	T	0.25195	0.0612	L	0.32530	0.975	0.80722	D	1	P	0.42584	0.784	B	0.34489	0.184	T	0.02574	-1.1139	10	0.34782	T	0.22	-14.6618	8.0324	0.30472	0.19:0.0:0.81:0.0	.	201	Q9Y6U7	RN215_HUMAN	M	201	ENSP00000371800:T201M	ENSP00000371800:T201M	T	-	2	0	RNF215	29110470	0.838000	0.29461	0.961000	0.40146	0.442000	0.32017	1.588000	0.36633	0.581000	0.29539	-0.258000	0.10820	ACG		0.617	RNF215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320960.1	NM_001017981		6	27	0	0	0	1	0	6	27				
CD1E	913	broad.mit.edu	37	1	158325904	158325904	+	Intron	SNP	C	C	A			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr1:158325904C>A	ENST00000368167.3	+	4	1143				CD1E_ENST00000368161.3_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000434258.1_Missense_Mutation_p.Q303K|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368160.3_Intron|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368164.3_Intron	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule						antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GGGTGAGAAACAGCTGAGGCT	0.532																																						ENST00000434258.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49						c.(907-909)Cag>Aag		CD1e molecule							38.0	43.0	41.0					1																	158325904		2203	4300	6503	SO:0001627	intron_variant	913				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		g.chr1:158325904C>A	AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1638	protein-coding gene	gene with protein product		188411	"""CD1E antigen, e polypeptide"", ""CD1e antigen"""			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.904+9C>A	1.37:g.158325904C>A						CD1E_ENST00000368167.3_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000368161.3_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368160.3_Intron|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000452291.2_Intron	p.Q303K			P15812	CD1E_HUMAN			4	918	+	all_hematologic(112;0.0378)		0					B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Missense_Mutation	SNP	ENST00000368167.3	37	c.907C>A	CCDS41417.1	.	.	.	.	.	.	.	.	.	.	C	1.625	-0.520582	0.04171	.	.	ENSG00000158488	ENST00000434258	T	0.01629	4.72	3.55	-6.36	0.01969	.	.	.	.	.	T	0.00300	0.0009	.	.	.	0.09310	N	1	B;B;B	0.12630	0.002;0.001;0.006	B;B;B	0.12837	0.005;0.0;0.008	T	0.47195	-0.9136	7	.	.	.	.	0.7109	0.00924	0.1919:0.2543:0.175:0.3788	.	116;206;303	B4E057;B4E042;E7ET31	.;.;.	K	303	ENSP00000401957:Q303K	.	Q	+	1	0	CD1E	156592528	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.140000	0.03210	-1.124000	0.02936	-1.036000	0.02392	CAG		0.532	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3	NM_030893		7	38	1	0	0.0293803	1	0.0304487	7	38				
DNAH8	1769	broad.mit.edu	37	6	38877389	38877389	+	Silent	SNP	G	G	T			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr6:38877389G>T	ENST00000359357.3	+	63	9212	c.8958G>T	c.(8956-8958)ctG>ctT	p.L2986L	DNAH8_ENST00000449981.2_Silent_p.L3203L|DNAH8_ENST00000441566.1_Silent_p.L2950L			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2986	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGGAGGCTCTGATTGCTGTGG	0.453																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(8956-8958)ctG>ctT		dynein, axonemal, heavy chain 8							135.0	126.0	129.0					6																	38877389		2203	4300	6503	SO:0001819	synonymous_variant	1769							g.chr6:38877389G>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.8958G>T	6.37:g.38877389G>T						DNAH8_ENST00000449981.2_Silent_p.L3203L|DNAH8_ENST00000441566.1_Silent_p.L2950L	p.L2986L							63	9212	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37	c.8958G>T																																																																																					0.453	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		5	74	1	0	1.23904e-05	1	1.35818e-05	5	74				
CIRH1A	84916	broad.mit.edu	37	16	69194341	69194341	+	Missense_Mutation	SNP	T	T	A	rs200233638		TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr16:69194341T>A	ENST00000314423.7	+	13	1704	c.1527T>A	c.(1525-1527)caT>caA	p.H509Q	CIRH1A_ENST00000352319.4_Missense_Mutation_p.H394Q|CIRH1A_ENST00000563094.1_Missense_Mutation_p.H509Q			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	509					maturation of SSU-rRNA (GO:0030490)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		CTGGAGTCCATGTCTACAACG	0.478																																					Melanoma(69;1156 1278 4951 8715 52012)	ENST00000563094.1																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16						c.(1525-1527)caT>caA		cirrhosis, autosomal recessive 1A (cirhin)							249.0	216.0	227.0					16																	69194341		2198	4300	6498	SO:0001583	missense	84916					nucleolus	protein binding	g.chr16:69194341T>A	AB075868	CCDS10872.1	16q22	2014-04-07			ENSG00000141076	ENSG00000141076		"""WD repeat domain containing"""	1983	protein-coding gene	gene with protein product	"""UTP4, small subunit (SSU) processome component, homolog (yeast)"""	607456				10820129, 20385600	Standard	NM_032830		Approved	NAIC, FLJ14728, KIAA1988, TEX292, CIRHIN, UTP4	uc002ews.4	Q969X6	OTTHUMG00000137570	ENST00000314423.7:c.1527T>A	16.37:g.69194341T>A	ENSP00000327179:p.His509Gln					CIRH1A_ENST00000352319.4_Missense_Mutation_p.H394Q|CIRH1A_ENST00000314423.7_Missense_Mutation_p.H509Q	p.H509Q			Q969X6	CIR1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.125)	13	1561	+			509					Q8NCD9|Q8TF14|Q96SP0|Q96SR9|Q96SZ9|Q96T13|Q9BWK6	Missense_Mutation	SNP	ENST00000314423.7	37	c.1527T>A	CCDS10872.1	.	.	.	.	.	.	.	.	.	.	T	8.459	0.854882	0.17106	.	.	ENSG00000141076	ENST00000314423;ENST00000352319	T;T	0.30182	1.54;2.29	5.89	-6.67	0.01783	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.354015	0.34411	N	0.003989	T	0.22044	0.0531	L	0.39898	1.24	0.19300	N	0.999971	B;B	0.06786	0.0;0.001	B;B	0.10450	0.005;0.003	T	0.02109	-1.1212	10	0.27785	T	0.31	.	18.3362	0.90288	0.0:0.6459:0.0:0.3541	.	509;509	Q969X6;Q969X6-3	CIR1A_HUMAN;.	Q	509;394	ENSP00000327179:H509Q;ENSP00000339164:H394Q	ENSP00000327179:H509Q	H	+	3	2	CIRH1A	67751842	0.382000	0.25148	0.264000	0.24511	0.877000	0.50540	-0.359000	0.07632	-1.753000	0.01323	-0.417000	0.06048	CAT		0.478	CIRH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268950.2	NM_032830		4	82	0	0	0	1	0	4	82				
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T	rs201682072		TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393																																						ENST00000435989.2																			10	Substitution - Missense(10)	p.D404E(10)	urinary_tract(3)|kidney(3)|prostate(2)|NS(1)|skin(1)	NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(1210-1212)gaC>gaA		zinc finger protein 814							117.0	93.0	100.0					19																	58385546		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385546G>T		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1212C>A	19.37:g.58385546G>T	ENSP00000410545:p.Asp404Glu					ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron	p.D404E	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN			3	1446	-			404					A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.1212C>A	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	11.12	1.545823	0.27652	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.14640	2.49	2.33	-4.66	0.03329	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04363	0.0120	N	0.03177	-0.4	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.33574	-0.9863	9	0.54805	T	0.06	.	1.2175	0.01917	0.3897:0.3041:0.1331:0.1731	.	404	B7Z6K7	ZN814_HUMAN	E	404;266	ENSP00000410545:D404E	ENSP00000365378:D266E	D	-	3	2	ZNF814	63077358	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.489000	0.02306	-2.531000	0.00491	-1.292000	0.01352	GAC		0.393	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		3	9	1	0	6.4e-05	1	6.88302e-05	3	9				
KLHDC7A	127707	broad.mit.edu	37	1	18809302	18809302	+	Silent	SNP	G	G	C			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr1:18809302G>C	ENST00000400664.1	+	1	1879	c.1827G>C	c.(1825-1827)ctG>ctC	p.L609L		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	609						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ACCCCCGCCTGGACCGCTGGG	0.701																																						ENST00000400664.1																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(1825-1827)ctG>ctC		kelch domain containing 7A							23.0	24.0	24.0					1																	18809302		2202	4295	6497	SO:0001819	synonymous_variant	127707					integral to membrane		g.chr1:18809302G>C	AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.1827G>C	1.37:g.18809302G>C							p.L609L	NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	1879	+		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)	609					Q8N8W6	Silent	SNP	ENST00000400664.1	37	c.1827G>C	CCDS185.2																																																																																				0.701	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375		5	11	0	0	0	1	0	5	11				
ADH1C	126	broad.mit.edu	37	4	100261040	100261041	+	RNA	INS	-	-	A	rs3216150|rs373899105	byFrequency	TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr4:100261040_100261041insA	ENST00000515683.1	-	0	1316					NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|zinc ion binding (GO:0008270)								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	AGTGCTTTCACAAAAAAAATCA	0.327													|||unknown(NO_COVERAGE)	1065	0.21266	0.0946	0.2709	5008	,	,		17244	0.0764		0.4026	False		,,,				2504	0.2761					ENST00000515683.1																			0													alcohol dehydrogenase 1C (class I), gamma polypeptide	Fomepizole(DB01213)|NADH(DB00157)																																					126				ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding	g.chr4:100261040_100261041insA	M12272		4q23	2010-03-16			ENSG00000248144	ENSG00000248144	1.1.1.1	"""Alcohol dehydrogenases"""	251	protein-coding gene	gene with protein product		103730		ADH3		3006456	Standard	NM_000669		Approved		uc031sgp.1	P00326	OTTHUMG00000161422		4.37:g.100261048_100261048dupA								NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	0	1316	-								Q4PJ18|Q5WRV0|Q6LBW4|Q6NWV0|Q6NZA7	RNA	INS	ENST00000515683.1	37																																																																																						0.327	ADH1C-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000364877.2	NM_000669		5	9						5	9	---	---	---	---
CASP8AP2	9994	broad.mit.edu	37	6	90556398	90556398	+	RNA	DEL	T	T	-	rs375626099		TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr6:90556398delT	ENST00000551025.1	+	0	1492									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TCTAAtttccttttttttttt	0.418																																					Colon(187;1656 2025 17045 31481 39901)	ENST00000551025.1																			0				NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51								caspase 8 associated protein 2							86.0	82.0	83.0					6																	90556398		1832	4090	5922			9994				cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	g.chr6:90556398delT	AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90556398delT										Q9UKL3	C8AP2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0953)	0	1492	+		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)							RNA	DEL	ENST00000551025.1	37																																																																																						0.418	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667		3	4						3	4	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49434822	49434822	+	Frame_Shift_Del	DEL	A	A	-			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr12:49434822delA	ENST00000301067.7	-	31	6730	c.6731delT	c.(6730-6732)ttcfs	p.F2244fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2244	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GGGTTTGAGGAATGGGTCAGG	0.662																																						ENST00000301067.7																			0											c.(6730-6732)tcfs		lysine (K)-specific methyltransferase 2D							46.0	52.0	50.0					12																	49434822		1932	4130	6062	SO:0001589	frameshift_variant	8085							g.chr12:49434822delA	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.6731delT	12.37:g.49434822delA	ENSP00000301067:p.Phe2244fs						p.F2244fs	NM_003482.3	NP_003473.3					31	6730	-								O14687	Frame_Shift_Del	DEL	ENST00000301067.7	37	c.6731delT	CCDS44873.1																																																																																				0.662	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			11	41						11	41	---	---	---	---
RP11-159L20.2	0	broad.mit.edu	37	14	31291081	31291082	+	RNA	INS	-	-	A	rs111525555|rs377310507|rs538462736|rs553783936	byFrequency	TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr14:31291081_31291082insA	ENST00000554665.1	-	0	208																											AAATTAAAAAGAAAAAAAAAAC	0.312																																						ENST00000554665.1																			0																																																			0							g.chr14:31291081_31291082insA																													14.37:g.31291091_31291091dupA														0	208	-									RNA	INS	ENST00000554665.1	37																																																																																						0.312	RP11-159L20.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000409699.1			3	6						3	6	---	---	---	---
SLC1A6	6511	broad.mit.edu	37	19	15083615	15083616	+	Frame_Shift_Del	DEL	GC	GC	-	rs372266621		TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr19:15083615_15083616delGC	ENST00000221742.3	-	1	114_115	c.107_108delGC	c.(106-108)cgcfs	p.R36fs	SLC1A6_ENST00000600144.1_Frame_Shift_Del_p.R36fs|SLC1A6_ENST00000544886.2_Frame_Shift_Del_p.R36fs|SLC1A6_ENST00000430939.2_Frame_Shift_Del_p.H41fs|SLC1A6_ENST00000598504.1_Frame_Shift_Del_p.R36fs	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	36					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						GCAGGCGCGTGCGCAGTGCTCT	0.678																																						ENST00000598504.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(106-108)cfs		solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	L-Glutamic Acid(DB00142)																																			SO:0001589	frameshift_variant	6511				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr19:15083615_15083616delGC		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"""Solute carriers"""	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.107_108delGC	19.37:g.15083617_15083618delGC	ENSP00000221742:p.Arg36fs					SLC1A6_ENST00000600144.1_Frame_Shift_Del_p.R36fs|SLC1A6_ENST00000544886.2_Frame_Shift_Del_p.R36fs|SLC1A6_ENST00000430939.2_Frame_Shift_Del_p.AH40fs|SLC1A6_ENST00000221742.3_Frame_Shift_Del_p.R36fs	p.R36fs	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN			4	1466_1467	-			36					Q8N753	Frame_Shift_Del	DEL	ENST00000221742.3	37	c.107_108delGC	CCDS12321.1																																																																																				0.678	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		9	22						9	22	---	---	---	---
ERF	2077	broad.mit.edu	37	19	42754713	42754713	+	Frame_Shift_Del	DEL	A	A	-			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr19:42754713delA	ENST00000222329.4	-	2	184	c.27delT	c.(25-27)tttfs	p.F9fs	ERF_ENST00000440177.2_5'UTR|ERF_ENST00000595941.1_5'UTR|AC006486.9_ENST00000594664.1_Intron	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	9					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				CCGGGAAGGCAAACCCTGGGG	0.637																																						ENST00000222329.4																			0				central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17						c.(25-27)ttfs		Ets2 repressor factor							32.0	28.0	29.0					19																	42754713		2203	4300	6503	SO:0001589	frameshift_variant	2077				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:42754713delA	U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"""Ets2 repressor factor"""	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.27delT	19.37:g.42754713delA	ENSP00000222329:p.Phe9fs					ERF_ENST00000440177.2_5'UTR|AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000595941.1_5'UTR	p.F9fs	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN			2	184	-		Prostate(69;0.00682)	9					B2RAP1|B7Z4R0|Q59G38|Q9UPI7	Frame_Shift_Del	DEL	ENST00000222329.4	37	c.27delT	CCDS12600.1																																																																																				0.637	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	NM_006494		10	13						10	13	---	---	---	---
SDCBP2	27111	broad.mit.edu	37	20	1293985	1293985	+	Splice_Site	DEL	T	T	-			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr20:1293985delT	ENST00000360779.3	-	5	556	c.383delA	c.(382-384)cag>cg	p.Q128fs	SDCBP2_ENST00000381812.1_Splice_Site_p.Q128fs|SDCBP2_ENST00000467129.1_5'Flank|SDCBP2_ENST00000381808.3_Splice_Site_p.Q43fs|SDCBP2_ENST00000339987.3_Splice_Site_p.Q128fs	NM_080489.4	NP_536737.3	Q9H190	SDCB2_HUMAN	syndecan binding protein (syntenin) 2	128	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	7						GCGCCCTACCTGGTCGACCTT	0.697																																						ENST00000360779.3																			0				endometrium(1)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	7						c.e5+1		syndecan binding protein (syntenin) 2							24.0	22.0	23.0					20																	1293985		2202	4296	6498	SO:0001630	splice_region_variant	27111				intracellular signal transduction|intracellular transport|nervous system development	cytoplasm	protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity	g.chr20:1293985delT	AF131809	CCDS13013.1, CCDS42848.1	20p13	2008-07-02			ENSG00000125775	ENSG00000125775			15756	protein-coding gene	gene with protein product						11152476	Standard	NM_080489		Approved	ST-2, SITAC18	uc021vzn.1	Q9H190	OTTHUMG00000031661	ENST00000360779.3:c.384+1A>-	20.37:g.1293985delT						SDCBP2_ENST00000381808.3_Splice_Site_p.Q43_splice|SDCBP2_ENST00000339987.3_Splice_Site_p.Q128_splice|SDCBP2_ENST00000381812.1_Splice_Site_p.Q128_splice	p.Q128_splice	NM_080489.4	NP_536737.3	Q9H190	SDCB2_HUMAN			5	556	-			128			PDZ 1.		O95892|Q5W0X1|Q9BZ42|Q9H567|Q9NRY8	Splice_Site	DEL	ENST00000360779.3	37	c.384_splice	CCDS42848.1																																																																																				0.697	SDCBP2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077513.2	NM_080489	Frame_Shift_Del	2	4						2	4	---	---	---	---
MAPK12	6300	broad.mit.edu	37	22	50699875	50699875	+	Frame_Shift_Del	DEL	C	C	-			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr22:50699875delC	ENST00000215659.8	-	1	379	c.64delG	c.(64-66)gagfs	p.E22fs	MAPK12_ENST00000395780.1_5'Flank|MAPK12_ENST00000395778.3_Frame_Shift_Del_p.E22fs|MAPK12_ENST00000497036.1_5'Flank	NM_002969.3	NP_002960.2	P53778	MK12_HUMAN	mitogen-activated protein kinase 12	22					cell cycle arrest (GO:0007050)|DNA damage induced protein phosphorylation (GO:0006975)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|myoblast differentiation (GO:0045445)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of peptidase activity (GO:0010952)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCGCGCACCTCCCAGGCCGTC	0.786																																						ENST00000215659.8																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8						c.(64-66)agfs		mitogen-activated protein kinase 12							3.0	3.0	3.0					22																	50699875		1617	3360	4977	SO:0001589	frameshift_variant	6300				cell cycle arrest|DNA damage induced protein phosphorylation|muscle organ development|myoblast differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction	mitochondrion|nucleoplasm	ATP binding|magnesium ion binding|MAP kinase activity|protein binding	g.chr22:50699875delC	U66243	CCDS14089.1	22q13.3	2012-05-08			ENSG00000188130	ENSG00000188130	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6874	protein-coding gene	gene with protein product		602399		SAPK3		9169156	Standard	NM_002969		Approved	ERK6, PRKM12, p38gamma, SAPK-3	uc003bkm.1	P53778	OTTHUMG00000030145	ENST00000215659.8:c.64delG	22.37:g.50699875delC	ENSP00000215659:p.Glu22fs					MAPK12_ENST00000395778.3_Frame_Shift_Del_p.E22fs	p.E22fs	NM_002969.3	NP_002960.2	P53778	MK12_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	1	379	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	22					Q14260|Q6IC53|Q99588|Q99672	Frame_Shift_Del	DEL	ENST00000215659.8	37	c.64delG	CCDS14089.1																																																																																				0.786	MAPK12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074999.2	NM_002969		2	4						2	4	---	---	---	---
