#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
COMMD1	150684	broad.mit.edu	37	2	62132935	62132935	+	Missense_Mutation	SNP	C	C	A			TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	6f4ff365-ee63-40d0-8f71-ed062f755d22	g.chr2:62132935C>A	ENST00000311832.5	+	1	154	c.122C>A	c.(121-123)cCa>cAa	p.P41Q	COMMD1_ENST00000472729.1_Intron|COMMD1_ENST00000538736.1_Missense_Mutation_p.P41Q	NM_152516.2	NP_689729.1	Q8N668	COMD1_HUMAN	copper metabolism (Murr1) domain containing 1	41					copper ion homeostasis (GO:0055070)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of protein ubiquitination (GO:0031398)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			large_intestine(1)|liver(2)|lung(5)|ovary(1)	9	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;4.73e-07)|Epithelial(17;0.0216)|all cancers(80;0.0934)			CAGCTATATCCAGAGGTGCCA	0.597																																						ENST00000311832.5																			0				large_intestine(1)|liver(2)|lung(5)|ovary(1)	9						c.(121-123)cCa>cAa		copper metabolism (Murr1) domain containing 1							45.0	46.0	46.0					2																	62132935		2203	4300	6503	SO:0001583	missense	150684				copper ion homeostasis|negative regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|regulation of proteasomal ubiquitin-dependent protein catabolic process	cell junction|Cul2-RING ubiquitin ligase complex|cytoplasm|nucleolus	copper ion binding|protein homodimerization activity	g.chr2:62132935C>A	BC022046	CCDS1869.1	2p15	2004-03-02	2004-02-13	2004-02-18	ENSG00000173163	ENSG00000173163			23024	protein-coding gene	gene with protein product	"""copper metabolism gene MURR1"""	607238	"""chromosome 2 open reading frame 5 (MURR1)"""	C2orf5		9001233, 11809725	Standard	NM_152516		Approved	MURR1, MGC27155	uc002sbp.3	Q8N668	OTTHUMG00000129445	ENST00000311832.5:c.122C>A	2.37:g.62132935C>A	ENSP00000308236:p.Pro41Gln					COMMD1_ENST00000472729.1_Intron|COMMD1_ENST00000538736.1_Missense_Mutation_p.P41Q	p.P41Q	NM_152516.2	NP_689729.1	Q8N668	COMD1_HUMAN	LUSC - Lung squamous cell carcinoma(7;4.73e-07)|Epithelial(17;0.0216)|all cancers(80;0.0934)		1	154	+	Lung NSC(7;0.035)|all_lung(7;0.0691)		41					B4DFQ4|Q96GS0	Missense_Mutation	SNP	ENST00000311832.5	37	c.122C>A	CCDS1869.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.893634	0.52121	.	.	ENSG00000173163	ENST00000311832;ENST00000538736	T;T	0.09630	2.96;2.96	5.6	4.72	0.59763	.	0.052645	0.85682	D	0.000000	T	0.28732	0.0712	M	0.74258	2.255	0.45662	D	0.998588	D	0.69078	0.997	D	0.64144	0.922	T	0.02226	-1.1192	10	0.87932	D	0	.	10.4553	0.44546	0.0:0.9107:0.0:0.0893	.	41	Q8N668	COMD1_HUMAN	Q	41	ENSP00000308236:P41Q;ENSP00000438961:P41Q	ENSP00000308236:P41Q	P	+	2	0	COMMD1	61986439	0.992000	0.36948	0.759000	0.31340	0.307000	0.27823	4.186000	0.58337	1.377000	0.46286	0.655000	0.94253	CCA		0.597	COMMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251607.2	NM_152516		3	49	1	0	1	1	1	3	49				
BCRP7	100133163	broad.mit.edu	37	22	18846029	18846029	+	3'UTR	SNP	C	C	T	rs369712145		TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	6f4ff365-ee63-40d0-8f71-ed062f755d22	g.chr22:18846029C>T	ENST00000412938.1	+	0	3387																											TTGAAGGCTGCCTTCAGTGCC	0.647																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18846029C>T																												ENST00000412938.1:c.*3384C>T	22.37:g.18846029C>T														0	3387	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.647	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			5	52	0	0	0	1	0	5	52				
HOXD12	3238	broad.mit.edu	37	2	176964720	176964720	+	Missense_Mutation	SNP	C	C	T			TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	6f4ff365-ee63-40d0-8f71-ed062f755d22	g.chr2:176964720C>T	ENST00000406506.2	+	1	263	c.191C>T	c.(190-192)gCg>gTg	p.A64V	HOXD12_ENST00000404162.2_Missense_Mutation_p.A64V			P35452	HXD12_HUMAN	homeobox D12	64				QPA -> TC (in Ref. 1; AAF79044). {ECO:0000305}.	embryonic digit morphogenesis (GO:0042733)|pattern specification process (GO:0007389)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		GCGCAGCCTGCGGGCGCCACT	0.751																																						ENST00000406506.2																			0				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10						c.(190-192)gCg>gTg		homeobox D12							5.0	6.0	5.0					2																	176964720		1374	3155	4529	SO:0001583	missense	3238					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176964720C>T		CCDS46456.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170178	ENSG00000170178		"""Homeoboxes / ANTP class : HOXL subclass"""	5135	protein-coding gene	gene with protein product		142988	"""homeo box D12"""	HOX4H		1675198, 1973146	Standard	NM_021193		Approved		uc010zev.1	P35452	OTTHUMG00000150358	ENST00000406506.2:c.191C>T	2.37:g.176964720C>T	ENSP00000385586:p.Ala64Val					HOXD12_ENST00000404162.2_Missense_Mutation_p.A64V	p.A64V			P35452	HXD12_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)	1	263	+			64	QPA -> TC (in Ref. 1; AAF79044).				B5MCP0|Q0VAD7|Q0VAD8|Q9NS03	Missense_Mutation	SNP	ENST00000406506.2	37	c.191C>T	CCDS46456.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.411499	0.62399	.	.	ENSG00000170178	ENST00000406506;ENST00000404162	T;T	0.35605	1.3;1.3	5.28	4.4	0.53042	.	0.319538	0.33553	N	0.004795	T	0.32882	0.0844	L	0.56769	1.78	0.09310	N	1	D;P	0.58268	0.982;0.669	B;B	0.41946	0.371;0.085	T	0.35251	-0.9796	10	0.62326	D	0.03	.	8.0727	0.30699	0.0:0.8173:0.0:0.1827	.	64;64	B5MCD3;P35452	.;HXD12_HUMAN	V	64	ENSP00000385586:A64V;ENSP00000385132:A64V	ENSP00000385132:A64V	A	+	2	0	HOXD12	176672966	0.992000	0.36948	0.954000	0.39281	0.981000	0.71138	1.753000	0.38359	1.227000	0.43598	0.655000	0.94253	GCG		0.751	HOXD12-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359253.2	NM_021193		2	1	0	0	0	1	0	2	1				
NEIL3	55247	broad.mit.edu	37	4	178283471	178283471	+	Missense_Mutation	SNP	A	A	G			TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	6f4ff365-ee63-40d0-8f71-ed062f755d22	g.chr4:178283471A>G	ENST00000264596.3	+	10	1782	c.1664A>G	c.(1663-1665)aAc>aGc	p.N555S		NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	555					base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		CCATTCTGCAACCATGGCAAG	0.388								Base excision repair (BER), DNA glycosylases																														ENST00000264596.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(1663-1665)aAc>aGc	Base excision repair (BER), DNA glycosylases	nei endonuclease VIII-like 3 (E. coli)							92.0	93.0	93.0					4																	178283471		2203	4300	6503	SO:0001583	missense	55247				base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding	g.chr4:178283471A>G	AB079071	CCDS3828.1	4q34	2014-02-18			ENSG00000109674	ENSG00000109674			24573	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 3"""	608934				12713815, 12509226	Standard	NM_018248		Approved	FLJ10858, hFPG2, FPG2, hNEI3, ZGRF3	uc003iut.2	Q8TAT5	OTTHUMG00000160722	ENST00000264596.3:c.1664A>G	4.37:g.178283471A>G	ENSP00000264596:p.Asn555Ser						p.N555S	NM_018248.2	NP_060718.2	Q8TAT5	NEIL3_HUMAN		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)	10	1782	+		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)	555					Q2PPJ3|Q8NG51|Q9NV95	Missense_Mutation	SNP	ENST00000264596.3	37	c.1664A>G	CCDS3828.1	.	.	.	.	.	.	.	.	.	.	A	10.79	1.449111	0.26074	.	.	ENSG00000109674	ENST00000264596	T	0.23348	1.91	4.63	0.95	0.19572	Zinc finger, GRF-type (1);	0.471433	0.22895	N	0.054335	T	0.14399	0.0348	N	0.17082	0.46	0.25080	N	0.990939	B	0.20368	0.044	B	0.23150	0.044	T	0.18903	-1.0322	10	0.52906	T	0.07	-2.0469	8.175	0.31276	0.768:0.0:0.232:0.0	.	555	Q8TAT5	NEIL3_HUMAN	S	555	ENSP00000264596:N555S	ENSP00000264596:N555S	N	+	2	0	NEIL3	178520465	1.000000	0.71417	0.991000	0.47740	0.736000	0.42039	1.495000	0.35627	0.095000	0.17434	-0.415000	0.06103	AAC		0.388	NEIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361914.1	NM_018248		15	73	0	0	0	1	0	15	73				
CDK5RAP1	51654	broad.mit.edu	37	20	31981850	31981850	+	Missense_Mutation	SNP	G	G	A			TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	6f4ff365-ee63-40d0-8f71-ed062f755d22	g.chr20:31981850G>A	ENST00000357886.4	-	4	584	c.431C>T	c.(430-432)aCa>aTa	p.T144I	CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.T144I|CDK5RAP1_ENST00000477105.1_5'UTR|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.T144I|CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.T144I|CDK5RAP1_ENST00000473997.1_Missense_Mutation_p.T54I			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	144	CDK5 activation inhibition.|MTTase N-terminal.				brain development (GO:0007420)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|regulation of neuron differentiation (GO:0045664)|tRNA modification (GO:0006400)	cytoplasm (GO:0005737)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						GATAGAGCATGTGACAAGGAG	0.403																																						ENST00000357886.4																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						c.(430-432)aCa>aTa		CDK5 regulatory subunit associated protein 1							105.0	97.0	100.0					20																	31981850		2203	4300	6503	SO:0001583	missense	51654				brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity	g.chr20:31981850G>A	AF152097	CCDS13219.1, CCDS63255.1	20q11.21	2012-09-20	2002-07-22	2002-07-26	ENSG00000101391	ENSG00000101391			15880	protein-coding gene	gene with protein product		608200	"""chromosome 20 open reading frame 34"""	C20orf34		10721722, 11882646, 15329498	Standard	NM_016408		Approved	CGI-05, HSPC167, C42	uc002wyy.4	Q96SZ6	OTTHUMG00000032256	ENST00000357886.4:c.431C>T	20.37:g.31981850G>A	ENSP00000350558:p.Thr144Ile					CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.T144I|CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.T144I|CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.T144I|CDK5RAP1_ENST00000452723.3_Missense_Mutation_p.T54I|CDK5RAP1_ENST00000473997.1_5'UTR	p.T144I			Q96SZ6	CK5P1_HUMAN			4	584	-			144			CDK5 activation inhibition.|MTTase N-terminal.		A8K7R0|Q5QP46|Q5QP47|Q5QP48|Q675N4|Q675N5|Q9BVG6|Q9BWZ5|Q9H859|Q9NZZ9|Q9Y3F0	Missense_Mutation	SNP	ENST00000357886.4	37	c.431C>T		.	.	.	.	.	.	.	.	.	.	G	18.02	3.529834	0.64860	.	.	ENSG00000101391	ENST00000346416;ENST00000357886;ENST00000339269;ENST00000452723;ENST00000375351;ENST00000544843	.	.	.	4.48	4.48	0.54585	Methylthiotransferase, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.91205	0.7229	H	0.99770	4.765	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.997;1.0;1.0;1.0;1.0;1.0	D	0.94720	0.7900	9	0.87932	D	0	-11.5027	15.0177	0.71600	0.0:0.0:1.0:0.0	.	144;144;144;144;144;144;54	Q675N4;Q96SZ6-4;Q96SZ6;Q675N5;Q53H36;Q96SZ6-3;Q96SZ6-2	.;.;CK5P1_HUMAN;.;.;.;.	I	144;144;144;54;34;144	.	ENSP00000341840:T144I	T	-	2	0	CDK5RAP1	31445511	1.000000	0.71417	0.977000	0.42913	0.483000	0.33249	8.770000	0.91746	2.481000	0.83766	0.313000	0.20887	ACA		0.403	CDK5RAP1-011	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000078697.1	NM_016408		5	87	0	0	0	1	0	5	87				
POLR1A	25885	broad.mit.edu	37	2	86297188	86297188	+	Missense_Mutation	SNP	C	C	T			TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	6f4ff365-ee63-40d0-8f71-ed062f755d22	g.chr2:86297188C>T	ENST00000263857.6	-	13	2197	c.1819G>A	c.(1819-1821)Gag>Aag	p.E607K	POLR1A_ENST00000409681.1_Missense_Mutation_p.E607K			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	607					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						ACGTAGGCCTCGGCCCGGCCC	0.572																																						ENST00000263857.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						c.(1819-1821)Gag>Aag		polymerase (RNA) I polypeptide A, 194kDa							40.0	42.0	41.0					2																	86297188		2028	4167	6195	SO:0001583	missense	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86297188C>T	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.1819G>A	2.37:g.86297188C>T	ENSP00000263857:p.Glu607Lys					POLR1A_ENST00000409681.1_Missense_Mutation_p.E607K	p.E607K			O95602	RPA1_HUMAN			13	2197	-			607					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	37	c.1819G>A	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.709521	0.89018	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	D;D	0.95238	-3.65;-3.65	5.3	5.3	0.74995	RNA polymerase, alpha subunit (1);RNA polymerase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98554	0.9517	H	0.98351	4.21	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99787	1.1030	10	0.87932	D	0	-30.4857	18.5668	0.91119	0.0:1.0:0.0:0.0	.	607	O95602	RPA1_HUMAN	K	607	ENSP00000263857:E607K;ENSP00000386300:E607K	ENSP00000263857:E607K	E	-	1	0	POLR1A	86150699	1.000000	0.71417	0.945000	0.38365	0.949000	0.60115	7.466000	0.80914	2.479000	0.83701	0.655000	0.94253	GAG		0.572	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		19	15	0	0	0	1	0	19	15				
TP53BP1	7158	broad.mit.edu	37	15	43738684	43738684	+	Missense_Mutation	SNP	C	C	A			TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	6f4ff365-ee63-40d0-8f71-ed062f755d22	g.chr15:43738684C>A	ENST00000263801.3	-	14	3178	c.2926G>T	c.(2926-2928)Ggg>Tgg	p.G976W	TP53BP1_ENST00000382044.4_Missense_Mutation_p.G981W|TP53BP1_ENST00000450115.2_Missense_Mutation_p.G981W|TP53BP1_ENST00000382039.3_Missense_Mutation_p.G981W|TP53BP1_ENST00000605155.1_5'Flank	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	976					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GGGGCAGCCCCAGAATCCCCT	0.473								Other conserved DNA damage response genes																														ENST00000263801.3																			0				breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72						c.(2926-2928)Ggg>Tgg	Other conserved DNA damage response genes	tumor protein p53 binding protein 1							101.0	101.0	101.0					15																	43738684		2201	4298	6499	SO:0001583	missense	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43738684C>A	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.2926G>T	15.37:g.43738684C>A	ENSP00000263801:p.Gly976Trp					TP53BP1_ENST00000450115.2_Missense_Mutation_p.G981W|TP53BP1_ENST00000382039.3_Missense_Mutation_p.G981W|TP53BP1_ENST00000382044.4_Missense_Mutation_p.G981W	p.G976W	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	14	3178	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	976					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	c.2926G>T	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	C	18.75	3.691599	0.68271	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546	T;T;T;T;T	0.10005	3.71;3.71;3.71;3.71;2.92	5.47	4.54	0.55810	.	0.636189	0.16408	N	0.215760	T	0.27384	0.0672	M	0.65975	2.015	0.24486	N	0.994329	D;D;D;D	0.69078	0.991;0.994;0.997;0.997	P;P;D;D	0.65140	0.88;0.858;0.932;0.932	T	0.02610	-1.1134	10	0.72032	D	0.01	-2.455	10.7683	0.46308	0.1332:0.7931:0.0:0.0737	.	981;976;981;981	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	W	976;981;981;981;941	ENSP00000263801:G976W;ENSP00000371475:G981W;ENSP00000371470:G981W;ENSP00000393497:G981W;ENSP00000388028:G941W	ENSP00000263801:G976W	G	-	1	0	TP53BP1	41525976	0.483000	0.25956	1.000000	0.80357	0.990000	0.78478	0.860000	0.27871	2.729000	0.93468	0.655000	0.94253	GGG		0.473	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			84	87	1	0	1.02218e-41	1	1.27773e-41	84	87				
SLC25A22	79751	broad.mit.edu	37	11	799816	799816	+	5'Flank	SNP	G	G	A			TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	6f4ff365-ee63-40d0-8f71-ed062f755d22	g.chr11:799816G>A	ENST00000531214.1	-	0	0				PIDD_ENST00000347755.5_Splice_Site_p.R825W|PIDD_ENST00000411829.2_Splice_Site_p.R808W	NM_001191060.1	NP_001177989.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22						L-glutamate transport (GO:0015813)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GAGCCTCACCGGAACTCGTGC	0.687																																					Colon(93;848 1468 3270 23355 49636)	ENST00000347755.5																			0											c.e15+1		p53-induced death domain protein							12.0	15.0	14.0					11																	799816		2170	4272	6442	SO:0001631	upstream_gene_variant	55367				apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding	g.chr11:799816G>A	AJ428202	CCDS7715.1	11p15.5	2013-05-22			ENSG00000177542	ENSG00000177542		"""Solute carriers"""	19954	protein-coding gene	gene with protein product		609302				11897791	Standard	NM_024698		Approved	GC1, FLJ13044, NET44, EIEE3	uc001lrj.3	Q9H936	OTTHUMG00000133310		11.37:g.799816G>A	Exception_encountered					PIDD_ENST00000411829.2_Splice_Site_p.R808_splice	p.R825_splice	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2	Q9HB75	PIDD_HUMAN			15	2614	-			825			Death.		A8K366|C9J1H6|E9PJD3|E9PKB2|E9PL68|E9PN26|E9PNQ3|E9PP01|E9PR97|Q8TBU8	Splice_Site	SNP	ENST00000531214.1	37	c.2474_splice	CCDS7715.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.236950	0.58886	.	.	ENSG00000177595	ENST00000411829;ENST00000347755	D;D	0.86164	-2.08;-2.08	4.1	0.546	0.17196	Death (3);DEATH-like (2);	0.064498	0.64402	D	0.000014	D	0.90177	0.6930	L	0.55990	1.75	0.46954	D	0.999266	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.89009	0.3427	10	0.66056	D	0.02	.	11.9657	0.53033	0.0:0.0:0.2603:0.7397	.	825;668;808	Q9HB75;Q9HB75-3;Q9HB75-2	PIDD_HUMAN;.;.	W	808;825	ENSP00000416801:R808W;ENSP00000337797:R825W	ENSP00000337797:R825W	R	-	1	2	PIDD	789816	1.000000	0.71417	0.993000	0.49108	0.415000	0.31203	1.535000	0.36061	0.306000	0.22856	0.462000	0.41574	CGG		0.687	SLC25A22-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384124.1			2	0	0	0	0	1	0	2	0				
PRPF40B	25766	broad.mit.edu	37	12	50027256	50027256	+	Missense_Mutation	SNP	G	G	A			TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	6f4ff365-ee63-40d0-8f71-ed062f755d22	g.chr12:50027256G>A	ENST00000380281.1	+	7	504	c.440G>A	c.(439-441)gGc>gAc	p.G147D	PRPF40B_ENST00000548825.2_Missense_Mutation_p.G169D|PRPF40B_ENST00000261897.1_Missense_Mutation_p.G141D			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	147	WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						TCGGACACAGGCAAACCTTAT	0.552																																						ENST00000261897.1																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						c.(421-423)gGc>gAc		PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)							143.0	157.0	152.0					12																	50027256		2203	4300	6503	SO:0001583	missense	25766				mRNA processing|RNA splicing	nuclear speck		g.chr12:50027256G>A	AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.440G>A	12.37:g.50027256G>A	ENSP00000369634:p.Gly147Asp					PRPF40B_ENST00000548825.2_Missense_Mutation_p.G169D|PRPF40B_ENST00000380281.1_Missense_Mutation_p.G147D	p.G141D			Q6NWY9	PR40B_HUMAN			7	973	+			147			WW 2.		O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Missense_Mutation	SNP	ENST00000380281.1	37	c.422G>A		.	.	.	.	.	.	.	.	.	.	G	22.1	4.249463	0.80024	.	.	ENSG00000110844	ENST00000548825;ENST00000261897;ENST00000380281	D;D;D	0.94862	-3.54;-3.54;-3.54	4.54	4.54	0.55810	WW/Rsp5/WWP (6);	0.000000	0.64402	D	0.000004	D	0.97657	0.9232	M	0.90309	3.105	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.97905	1.0305	9	.	.	.	-18.6196	17.259	0.87064	0.0:0.0:1.0:0.0	.	147;141;147	Q6NWY9;Q6NWY9-2;Q6NWY9-3	PR40B_HUMAN;.;.	D	169;141;147	ENSP00000448073:G169D;ENSP00000261897:G141D;ENSP00000369634:G147D	.	G	+	2	0	PRPF40B	48313523	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.288000	0.96055	2.814000	0.96858	0.655000	0.94253	GGC		0.552	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272		5	319	0	0	0	1	0	5	319				
AFF1	4299	broad.mit.edu	37	4	88055713	88055713	+	Missense_Mutation	SNP	T	T	G			TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	64f1b3b9-24c9-4715-b6ce-834b3443d46f	g.chr4:88055713T>G	ENST00000307808.6	+	19	3798	c.3378T>G	c.(3376-3378)agT>agG	p.S1126R	AFF1_ENST00000544085.1_Missense_Mutation_p.S765R|AFF1_ENST00000395146.4_Missense_Mutation_p.S1134R	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	1126					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		TGGGGAGCAGTGGGGTGGCTG	0.567																																						ENST00000307808.6																			0				breast(1)|large_intestine(2)	3						c.(3376-3378)agT>agG		AF4/FMR2 family, member 1							166.0	167.0	167.0					4																	88055713		2203	4300	6503	SO:0001583	missense	4299					nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:88055713T>G	L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.3378T>G	4.37:g.88055713T>G	ENSP00000305689:p.Ser1126Arg					AFF1_ENST00000544085.1_Missense_Mutation_p.S765R|AFF1_ENST00000395146.4_Missense_Mutation_p.S1134R	p.S1126R	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	19	3798	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	1126					B4DTU1|E9PBM3	Missense_Mutation	SNP	ENST00000307808.6	37	c.3378T>G	CCDS3616.1	.	.	.	.	.	.	.	.	.	.	T	12.74	2.027362	0.35797	.	.	ENSG00000172493	ENST00000395146;ENST00000307808;ENST00000544085	T;T;T	0.66460	-0.21;-0.21;-0.21	5.4	-10.8	0.00216	.	1.865810	0.02658	N	0.107213	T	0.57902	0.2085	L	0.55990	1.75	0.09310	N	0.999995	P;P;P	0.47484	0.81;0.896;0.896	B;B;B	0.42827	0.399;0.399;0.399	T	0.62196	-0.6905	10	0.33141	T	0.24	2.4417	10.6077	0.45404	0.0:0.2255:0.2293:0.5452	.	1134;1127;1126	E9PBM3;Q14C88;P51825	.;.;AFF1_HUMAN	R	1134;1126;765	ENSP00000378578:S1134R;ENSP00000305689:S1126R;ENSP00000440843:S765R	ENSP00000305689:S1126R	S	+	3	2	AFF1	88274737	0.000000	0.05858	0.001000	0.08648	0.554000	0.35429	-3.231000	0.00548	-2.371000	0.00602	-0.415000	0.06103	AGT		0.567	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935		10	179	0	0	0	1	0	10	179				
HDAC7	51564	broad.mit.edu	37	12	48179336	48179336	+	Intron	SNP	C	C	T			TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	64f1b3b9-24c9-4715-b6ce-834b3443d46f	g.chr12:48179336C>T	ENST00000427332.2	-	24	2746				HDAC7_ENST00000080059.7_Intron|AC004466.1_ENST00000599515.1_Silent_p.F140F|HDAC7_ENST00000354334.3_Intron|HDAC7_ENST00000552960.1_Intron|HDAC7_ENST00000380610.4_Intron			Q8WUI4	HDAC7_HUMAN	histone deacetylase 7						cell-cell junction assembly (GO:0007043)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		CCCCAGCCTTCTAGCCACAAG	0.577																																						ENST00000599515.1																			0											c.(418-420)ttC>ttT																																						SO:0001627	intron_variant	0							g.chr12:48179336C>T	AF239243	CCDS8756.2, CCDS41776.1	12q13.1	2008-02-25	2008-02-25	2008-02-25	ENSG00000061273	ENSG00000061273			14067	protein-coding gene	gene with protein product		606542	"""histone deacetylase 7A"""	HDAC7A		10922406, 10640276	Standard	NM_015401		Approved	DKFZP586J0917	uc010slo.2	Q8WUI4	OTTHUMG00000152968	ENST00000427332.2:c.2590-82G>A	12.37:g.48179336C>T						HDAC7_ENST00000354334.3_Intron|HDAC7_ENST00000552960.1_Intron|HDAC7_ENST00000427332.2_Intron|HDAC7_ENST00000380610.4_Intron|HDAC7_ENST00000080059.7_Intron	p.F140F							1	631	+								B3KY08|B4DWI0|B4E0Q5|Q6P1W9|Q6W9G7|Q7Z4K2|Q7Z5I1|Q96K01|Q9BR73|Q9H7L0|Q9NW41|Q9NWA9|Q9NYK9|Q9UFU7	Silent	SNP	ENST00000427332.2	37	c.420C>T																																																																																					0.577	HDAC7-013	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000328804.2			7	12	0	0	0	1	0	7	12				
SEZ6L	23544	broad.mit.edu	37	22	26743742	26743742	+	Missense_Mutation	SNP	C	C	A			TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	64f1b3b9-24c9-4715-b6ce-834b3443d46f	g.chr22:26743742C>A	ENST00000248933.6	+	11	2365	c.2270C>A	c.(2269-2271)aCc>aAc	p.T757N	SEZ6L_ENST00000403121.1_Missense_Mutation_p.T530N|SEZ6L_ENST00000343706.4_Missense_Mutation_p.T757N|SEZ6L_ENST00000529632.2_Missense_Mutation_p.T757N|SEZ6L_ENST00000402979.1_Missense_Mutation_p.T530N|SEZ6L_ENST00000411842.2_5'UTR|SEZ6L_ENST00000404234.3_Missense_Mutation_p.T757N|SEZ6L_ENST00000360929.3_Missense_Mutation_p.T757N			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	757	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GGCTGGAAAACCACTTCTCAC	0.532																																						ENST00000529632.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						c.(2269-2271)aCc>aAc		seizure related 6 homolog (mouse)-like							77.0	74.0	75.0					22																	26743742		2203	4300	6503	SO:0001583	missense	23544					endoplasmic reticulum membrane|integral to membrane		g.chr22:26743742C>A	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.2270C>A	22.37:g.26743742C>A	ENSP00000248933:p.Thr757Asn					SEZ6L_ENST00000404234.3_Missense_Mutation_p.T757N|SEZ6L_ENST00000360929.3_Missense_Mutation_p.T757N|SEZ6L_ENST00000343706.4_Missense_Mutation_p.T757N|SEZ6L_ENST00000403121.1_Missense_Mutation_p.T530N|SEZ6L_ENST00000411842.2_5'UTR|SEZ6L_ENST00000402979.1_Missense_Mutation_p.T530N|SEZ6L_ENST00000248933.6_Missense_Mutation_p.T757N	p.T757N	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN			11	2466	+			757			Sushi 3.		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	c.2270C>A	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.172822	0.78452	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979	T;T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	4.88	4.88	0.63580	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000019	T	0.74068	0.3668	L	0.46670	1.46	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;0.999;0.999;0.999	D;D;D;D;D;D;D	0.91635	0.999;0.986;0.962;0.977;0.983;0.986;0.986	T	0.74976	-0.3480	10	0.52906	T	0.07	.	17.2077	0.86922	0.0:1.0:0.0:0.0	.	757;757;530;757;757;757;757	B7ZLJ8;B7ZLJ6;B0QYH4;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;.;SE6L1_HUMAN	N	757;757;757;757;757;530;530	ENSP00000384772:T757N;ENSP00000437037:T757N;ENSP00000354185:T757N;ENSP00000248933:T757N;ENSP00000342661:T757N;ENSP00000384838:T530N;ENSP00000384733:T530N	ENSP00000248933:T757N	T	+	2	0	SEZ6L	25073742	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	5.350000	0.66016	2.543000	0.85770	0.655000	0.94253	ACC		0.532	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			5	66	1	0	0.0293803	1	0.0303131	5	66				
NEIL3	55247	broad.mit.edu	37	4	178283471	178283471	+	Missense_Mutation	SNP	A	A	G			TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	64f1b3b9-24c9-4715-b6ce-834b3443d46f	g.chr4:178283471A>G	ENST00000264596.3	+	10	1782	c.1664A>G	c.(1663-1665)aAc>aGc	p.N555S		NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	555					base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		CCATTCTGCAACCATGGCAAG	0.388								Base excision repair (BER), DNA glycosylases																														ENST00000264596.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(1663-1665)aAc>aGc	Base excision repair (BER), DNA glycosylases	nei endonuclease VIII-like 3 (E. coli)							92.0	93.0	93.0					4																	178283471		2203	4300	6503	SO:0001583	missense	55247				base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding	g.chr4:178283471A>G	AB079071	CCDS3828.1	4q34	2014-02-18			ENSG00000109674	ENSG00000109674			24573	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 3"""	608934				12713815, 12509226	Standard	NM_018248		Approved	FLJ10858, hFPG2, FPG2, hNEI3, ZGRF3	uc003iut.2	Q8TAT5	OTTHUMG00000160722	ENST00000264596.3:c.1664A>G	4.37:g.178283471A>G	ENSP00000264596:p.Asn555Ser						p.N555S	NM_018248.2	NP_060718.2	Q8TAT5	NEIL3_HUMAN		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)	10	1782	+		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)	555					Q2PPJ3|Q8NG51|Q9NV95	Missense_Mutation	SNP	ENST00000264596.3	37	c.1664A>G	CCDS3828.1	.	.	.	.	.	.	.	.	.	.	A	10.79	1.449111	0.26074	.	.	ENSG00000109674	ENST00000264596	T	0.23348	1.91	4.63	0.95	0.19572	Zinc finger, GRF-type (1);	0.471433	0.22895	N	0.054335	T	0.14399	0.0348	N	0.17082	0.46	0.25080	N	0.990939	B	0.20368	0.044	B	0.23150	0.044	T	0.18903	-1.0322	10	0.52906	T	0.07	-2.0469	8.175	0.31276	0.768:0.0:0.232:0.0	.	555	Q8TAT5	NEIL3_HUMAN	S	555	ENSP00000264596:N555S	ENSP00000264596:N555S	N	+	2	0	NEIL3	178520465	1.000000	0.71417	0.991000	0.47740	0.736000	0.42039	1.495000	0.35627	0.095000	0.17434	-0.415000	0.06103	AAC		0.388	NEIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361914.1	NM_018248		15	73	0	0	0	1	0	15	73				
CDK5RAP1	51654	broad.mit.edu	37	20	31981850	31981850	+	Missense_Mutation	SNP	G	G	A			TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	64f1b3b9-24c9-4715-b6ce-834b3443d46f	g.chr20:31981850G>A	ENST00000357886.4	-	4	584	c.431C>T	c.(430-432)aCa>aTa	p.T144I	CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.T144I|CDK5RAP1_ENST00000477105.1_5'UTR|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.T144I|CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.T144I|CDK5RAP1_ENST00000473997.1_Missense_Mutation_p.T54I			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	144	CDK5 activation inhibition.|MTTase N-terminal.				brain development (GO:0007420)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|regulation of neuron differentiation (GO:0045664)|tRNA modification (GO:0006400)	cytoplasm (GO:0005737)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						GATAGAGCATGTGACAAGGAG	0.403																																						ENST00000357886.4																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						c.(430-432)aCa>aTa		CDK5 regulatory subunit associated protein 1							105.0	97.0	100.0					20																	31981850		2203	4300	6503	SO:0001583	missense	51654				brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity	g.chr20:31981850G>A	AF152097	CCDS13219.1, CCDS63255.1	20q11.21	2012-09-20	2002-07-22	2002-07-26	ENSG00000101391	ENSG00000101391			15880	protein-coding gene	gene with protein product		608200	"""chromosome 20 open reading frame 34"""	C20orf34		10721722, 11882646, 15329498	Standard	NM_016408		Approved	CGI-05, HSPC167, C42	uc002wyy.4	Q96SZ6	OTTHUMG00000032256	ENST00000357886.4:c.431C>T	20.37:g.31981850G>A	ENSP00000350558:p.Thr144Ile					CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.T144I|CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.T144I|CDK5RAP1_ENST00000473997.1_5'UTR|CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.T144I|CDK5RAP1_ENST00000452723.3_Missense_Mutation_p.T54I	p.T144I			Q96SZ6	CK5P1_HUMAN			4	584	-			144			CDK5 activation inhibition.|MTTase N-terminal.		A8K7R0|Q5QP46|Q5QP47|Q5QP48|Q675N4|Q675N5|Q9BVG6|Q9BWZ5|Q9H859|Q9NZZ9|Q9Y3F0	Missense_Mutation	SNP	ENST00000357886.4	37	c.431C>T		.	.	.	.	.	.	.	.	.	.	G	18.02	3.529834	0.64860	.	.	ENSG00000101391	ENST00000346416;ENST00000357886;ENST00000339269;ENST00000452723;ENST00000375351;ENST00000544843	.	.	.	4.48	4.48	0.54585	Methylthiotransferase, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.91205	0.7229	H	0.99770	4.765	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.997;1.0;1.0;1.0;1.0;1.0	D	0.94720	0.7900	9	0.87932	D	0	-11.5027	15.0177	0.71600	0.0:0.0:1.0:0.0	.	144;144;144;144;144;144;54	Q675N4;Q96SZ6-4;Q96SZ6;Q675N5;Q53H36;Q96SZ6-3;Q96SZ6-2	.;.;CK5P1_HUMAN;.;.;.;.	I	144;144;144;54;34;144	.	ENSP00000341840:T144I	T	-	2	0	CDK5RAP1	31445511	1.000000	0.71417	0.977000	0.42913	0.483000	0.33249	8.770000	0.91746	2.481000	0.83766	0.313000	0.20887	ACA		0.403	CDK5RAP1-011	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000078697.1	NM_016408		5	87	0	0	0	1	0	5	87				
LINC00969	440993	broad.mit.edu	37	3	195410627	195410627	+	lincRNA	SNP	A	A	G	rs6583272	byFrequency	TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	64f1b3b9-24c9-4715-b6ce-834b3443d46f	g.chr3:195410627A>G	ENST00000445430.1	+	0	1824									long intergenic non-protein coding RNA 969																		CCTCAGGTGCAGATTGATGAG	0.473																																						ENST00000445430.1																			0																																																			0							g.chr3:195410627A>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195410627A>G														0	1824	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.473	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			3	13	0	0	0	1	0	3	13				
ANKRD32	84250	broad.mit.edu	37	5	94014548	94014548	+	Silent	SNP	A	A	G			TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	64f1b3b9-24c9-4715-b6ce-834b3443d46f	g.chr5:94014548A>G	ENST00000265140.5	+	15	2282	c.1863A>G	c.(1861-1863)ggA>ggG	p.G621G		NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	621						centrosome (GO:0005813)|nucleus (GO:0005634)		p.G621G(4)		NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		TATTGGCTGGAATTCTTGGAG	0.308																																						ENST00000265140.5																			4	Substitution - coding silent(4)	p.G621G(4)	endometrium(3)|kidney(1)	NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13						c.(1861-1863)ggA>ggG		ankyrin repeat domain 32																																				SO:0001819	synonymous_variant	84250							g.chr5:94014548A>G	AL136560	CCDS4071.2	5q15	2013-01-10			ENSG00000133302	ENSG00000133302		"""Ankyrin repeat domain containing"""	25408	protein-coding gene	gene with protein product			"""BRCT domain containing 1"""	BRCTD1			Standard	NM_032290		Approved	DKFZp761C121, DKFZp564C0469	uc003kkr.4	Q9BQI6	OTTHUMG00000121133	ENST00000265140.5:c.1863A>G	5.37:g.94014548A>G							p.G621G	NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN		all cancers(79;3.88e-18)	15	2282	+		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)	621					B4DMG4|Q3B7K4|Q6NSA5|Q6PHW9|Q9Y402	Silent	SNP	ENST00000265140.5	37	c.1863A>G	CCDS4071.2																																																																																				0.308	ANKRD32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241610.1	NM_032290		34	34	0	0	0	1	0	34	34				
SLC25A22	79751	broad.mit.edu	37	11	799816	799816	+	5'Flank	SNP	G	G	A			TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	64f1b3b9-24c9-4715-b6ce-834b3443d46f	g.chr11:799816G>A	ENST00000531214.1	-	0	0				PIDD_ENST00000347755.5_Splice_Site_p.R825W|PIDD_ENST00000411829.2_Splice_Site_p.R808W	NM_001191060.1	NP_001177989.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22						L-glutamate transport (GO:0015813)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GAGCCTCACCGGAACTCGTGC	0.687																																					Colon(93;848 1468 3270 23355 49636)	ENST00000347755.5																			0											c.e15+1		p53-induced death domain protein							12.0	15.0	14.0					11																	799816		2170	4272	6442	SO:0001631	upstream_gene_variant	55367				apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding	g.chr11:799816G>A	AJ428202	CCDS7715.1	11p15.5	2013-05-22			ENSG00000177542	ENSG00000177542		"""Solute carriers"""	19954	protein-coding gene	gene with protein product		609302				11897791	Standard	NM_024698		Approved	GC1, FLJ13044, NET44, EIEE3	uc001lrj.3	Q9H936	OTTHUMG00000133310		11.37:g.799816G>A	Exception_encountered					PIDD_ENST00000411829.2_Splice_Site_p.R808_splice	p.R825_splice	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2	Q9HB75	PIDD_HUMAN			15	2614	-			825			Death.		A8K366|C9J1H6|E9PJD3|E9PKB2|E9PL68|E9PN26|E9PNQ3|E9PP01|E9PR97|Q8TBU8	Splice_Site	SNP	ENST00000531214.1	37	c.2474_splice	CCDS7715.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.236950	0.58886	.	.	ENSG00000177595	ENST00000411829;ENST00000347755	D;D	0.86164	-2.08;-2.08	4.1	0.546	0.17196	Death (3);DEATH-like (2);	0.064498	0.64402	D	0.000014	D	0.90177	0.6930	L	0.55990	1.75	0.46954	D	0.999266	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.89009	0.3427	10	0.66056	D	0.02	.	11.9657	0.53033	0.0:0.0:0.2603:0.7397	.	825;668;808	Q9HB75;Q9HB75-3;Q9HB75-2	PIDD_HUMAN;.;.	W	808;825	ENSP00000416801:R808W;ENSP00000337797:R825W	ENSP00000337797:R825W	R	-	1	2	PIDD	789816	1.000000	0.71417	0.993000	0.49108	0.415000	0.31203	1.535000	0.36061	0.306000	0.22856	0.462000	0.41574	CGG		0.687	SLC25A22-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384124.1			2	0	0	0	0	1	0	2	0				
MXRA5	25878	broad.mit.edu	37	X	3228358	3228358	+	Missense_Mutation	SNP	A	A	C			TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	64f1b3b9-24c9-4715-b6ce-834b3443d46f	g.chrX:3228358A>C	ENST00000217939.6	-	7	8040	c.7886T>G	c.(7885-7887)gTc>gGc	p.V2629G		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2629	Ig-like C2-type 10.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTTCAGGGAGACCAGCCTCTC	0.612																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(7885-7887)gTc>gGc		matrix-remodelling associated 5							30.0	29.0	30.0					X																	3228358		2197	4284	6481	SO:0001583	missense	25878					extracellular region		g.chrX:3228358A>C	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.7886T>G	X.37:g.3228358A>C	ENSP00000217939:p.Val2629Gly						p.V2629G	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			7	8040	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2629			Ig-like C2-type 10.		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.7886T>G	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	A	11.76	1.734274	0.30774	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.69806	-0.43	4.23	3.05	0.35203	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.36338	U	0.002656	T	0.75466	0.3853	L	0.59967	1.855	0.50313	D	0.999866	D	0.89917	1.0	D	0.85130	0.997	T	0.73033	-0.4110	10	0.54805	T	0.06	.	9.0598	0.36427	0.91:0.0:0.09:0.0	.	2629	Q9NR99	MXRA5_HUMAN	G	2629	ENSP00000217939:V2629G	ENSP00000217939:V2629G	V	-	2	0	MXRA5	3238358	0.972000	0.33761	0.204000	0.23530	0.001000	0.01503	7.829000	0.86735	0.393000	0.25203	-0.318000	0.08688	GTC		0.612	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		6	30	0	0	0	1	0	6	30				
COMMD1	150684	broad.mit.edu	37	2	62132935	62132935	+	Missense_Mutation	SNP	C	C	A			TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	64f1b3b9-24c9-4715-b6ce-834b3443d46f	g.chr2:62132935C>A	ENST00000311832.5	+	1	154	c.122C>A	c.(121-123)cCa>cAa	p.P41Q	COMMD1_ENST00000472729.1_Intron|COMMD1_ENST00000538736.1_Missense_Mutation_p.P41Q	NM_152516.2	NP_689729.1	Q8N668	COMD1_HUMAN	copper metabolism (Murr1) domain containing 1	41					copper ion homeostasis (GO:0055070)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of protein ubiquitination (GO:0031398)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			large_intestine(1)|liver(2)|lung(5)|ovary(1)	9	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;4.73e-07)|Epithelial(17;0.0216)|all cancers(80;0.0934)			CAGCTATATCCAGAGGTGCCA	0.597																																						ENST00000311832.5																			0				large_intestine(1)|liver(2)|lung(5)|ovary(1)	9						c.(121-123)cCa>cAa		copper metabolism (Murr1) domain containing 1							45.0	46.0	46.0					2																	62132935		2203	4300	6503	SO:0001583	missense	150684				copper ion homeostasis|negative regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|regulation of proteasomal ubiquitin-dependent protein catabolic process	cell junction|Cul2-RING ubiquitin ligase complex|cytoplasm|nucleolus	copper ion binding|protein homodimerization activity	g.chr2:62132935C>A	BC022046	CCDS1869.1	2p15	2004-03-02	2004-02-13	2004-02-18	ENSG00000173163	ENSG00000173163			23024	protein-coding gene	gene with protein product	"""copper metabolism gene MURR1"""	607238	"""chromosome 2 open reading frame 5 (MURR1)"""	C2orf5		9001233, 11809725	Standard	NM_152516		Approved	MURR1, MGC27155	uc002sbp.3	Q8N668	OTTHUMG00000129445	ENST00000311832.5:c.122C>A	2.37:g.62132935C>A	ENSP00000308236:p.Pro41Gln					COMMD1_ENST00000472729.1_Intron|COMMD1_ENST00000538736.1_Missense_Mutation_p.P41Q	p.P41Q	NM_152516.2	NP_689729.1	Q8N668	COMD1_HUMAN	LUSC - Lung squamous cell carcinoma(7;4.73e-07)|Epithelial(17;0.0216)|all cancers(80;0.0934)		1	154	+	Lung NSC(7;0.035)|all_lung(7;0.0691)		41					B4DFQ4|Q96GS0	Missense_Mutation	SNP	ENST00000311832.5	37	c.122C>A	CCDS1869.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.893634	0.52121	.	.	ENSG00000173163	ENST00000311832;ENST00000538736	T;T	0.09630	2.96;2.96	5.6	4.72	0.59763	.	0.052645	0.85682	D	0.000000	T	0.28732	0.0712	M	0.74258	2.255	0.45662	D	0.998588	D	0.69078	0.997	D	0.64144	0.922	T	0.02226	-1.1192	10	0.87932	D	0	.	10.4553	0.44546	0.0:0.9107:0.0:0.0893	.	41	Q8N668	COMD1_HUMAN	Q	41	ENSP00000308236:P41Q;ENSP00000438961:P41Q	ENSP00000308236:P41Q	P	+	2	0	COMMD1	61986439	0.992000	0.36948	0.759000	0.31340	0.307000	0.27823	4.186000	0.58337	1.377000	0.46286	0.655000	0.94253	CCA		0.597	COMMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251607.2	NM_152516		3	49	1	0	1	1	1	3	49				
POLR2B	5431	broad.mit.edu	37	4	57876368	57876368	+	Intron	SNP	T	T	G			TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	64f1b3b9-24c9-4715-b6ce-834b3443d46f	g.chr4:57876368T>G	ENST00000381227.1	+	12	1817				POLR2B_ENST00000314595.5_Intron|POLR2B_ENST00000441246.2_Intron|POLR2B_ENST00000431623.2_Intron|POLR2B_ENST00000510355.1_Splice_Site			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa						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)					AAGTGGCAGGTAAGTTAAAGT	0.353																																						ENST00000510355.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52						c.e1+2		polymerase (RNA) II (DNA directed) polypeptide B, 140kDa																																				SO:0001627	intron_variant	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.chr4:57876368T>G		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.1405-159T>G	4.37:g.57876368T>G						POLR2B_ENST00000381227.1_Intron|POLR2B_ENST00000441246.2_Intron|POLR2B_ENST00000431623.2_Intron|POLR2B_ENST00000314595.5_Intron				P30876	RPB2_HUMAN			1	28	+	Glioma(25;0.08)|all_neural(26;0.181)							A8K1A8|Q8IZ61	Splice_Site	SNP	ENST00000381227.1	37		CCDS3511.1																																																																																				0.353	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938		5	9	0	0	0	1	0	5	9				
EPG5	57724	broad.mit.edu	37	18	43487997	43487997	+	Missense_Mutation	SNP	C	C	T			TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	64f1b3b9-24c9-4715-b6ce-834b3443d46f	g.chr18:43487997C>T	ENST00000282041.5	-	24	4289	c.4255G>A	c.(4255-4257)Gga>Aga	p.G1419R	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1419					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TAGGTATCTCCTTTTTGAAAA	0.313																																						ENST00000282041.5																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.(4255-4257)Gga>Aga		ectopic P-granules autophagy protein 5 homolog (C. elegans)							74.0	77.0	76.0					18																	43487997		1813	4068	5881	SO:0001583	missense	57724				autophagy			g.chr18:43487997C>T	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.4255G>A	18.37:g.43487997C>T	ENSP00000282041:p.Gly1419Arg					EPG5_ENST00000585906.1_5'UTR	p.G1419R	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN			24	4289	-			1419					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.4255G>A	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	C	23.1	4.379485	0.82682	.	.	ENSG00000152223	ENST00000282041;ENST00000308403	T	0.09723	2.95	5.91	5.91	0.95273	.	0.122547	0.56097	D	0.000028	T	0.30510	0.0767	L	0.53249	1.67	0.49130	D	0.99975	D;D	0.76494	0.999;0.999	D;D	0.67900	0.954;0.954	T	0.00072	-1.2128	10	0.51188	T	0.08	-18.9457	20.2983	0.98569	0.0:1.0:0.0:0.0	.	1419;1419	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	R	1419;294	ENSP00000282041:G1419R	ENSP00000282041:G1419R	G	-	1	0	EPG5	41741995	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.087000	0.57671	2.802000	0.96397	0.655000	0.94253	GGA		0.313	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		9	89	0	0	0	1	0	9	89				
SCMH1	22955	broad.mit.edu	37	1	41514523	41514523	+	Missense_Mutation	SNP	T	T	G			TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	64f1b3b9-24c9-4715-b6ce-834b3443d46f	g.chr1:41514523T>G	ENST00000326197.7	-	10	1414	c.1115A>C	c.(1114-1116)cAc>cCc	p.H372P	SCMH1_ENST00000337495.5_Missense_Mutation_p.H382P|SCMH1_ENST00000372595.1_Missense_Mutation_p.H311P|SCMH1_ENST00000361705.3_Missense_Mutation_p.H325P|SCMH1_ENST00000397174.2_Missense_Mutation_p.H352P|SCMH1_ENST00000402904.2_Missense_Mutation_p.H372P|SCMH1_ENST00000372597.1_Missense_Mutation_p.H325P|SCMH1_ENST00000372596.1_Missense_Mutation_p.H311P|SCMH1_ENST00000456518.2_Missense_Mutation_p.H214P|SCMH1_ENST00000361191.5_Missense_Mutation_p.H311P|SCMH1_ENST00000397171.2_Missense_Mutation_p.H311P					sex comb on midleg homolog 1 (Drosophila)											breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				CTTATCTAAGTGGGGGCCTGT	0.498																																						ENST00000402904.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15						c.(1114-1116)cAc>cCc		sex comb on midleg homolog 1 (Drosophila)							115.0	117.0	116.0					1																	41514523		2203	4300	6503	SO:0001583	missense	22955				anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:41514523T>G	AF149045	CCDS461.1, CCDS30688.1, CCDS53301.1, CCDS53302.1, CCDS53303.1, CCDS53304.1	1p34	2013-01-10			ENSG00000010803	ENSG00000010803		"""Sterile alpha motif (SAM) domain containing"""	19003	protein-coding gene	gene with protein product						10524249	Standard	NM_012236		Approved	Scml3	uc001cgs.3	Q96GD3	OTTHUMG00000005720	ENST00000326197.7:c.1115A>C	1.37:g.41514523T>G	ENSP00000318094:p.His372Pro					SCMH1_ENST00000361191.5_Missense_Mutation_p.H311P|SCMH1_ENST00000361705.3_Missense_Mutation_p.H325P|SCMH1_ENST00000337495.5_Missense_Mutation_p.H382P|SCMH1_ENST00000326197.7_Missense_Mutation_p.H372P|SCMH1_ENST00000456518.2_Missense_Mutation_p.H214P|SCMH1_ENST00000397171.2_Missense_Mutation_p.H311P|SCMH1_ENST00000397174.2_Missense_Mutation_p.H352P|SCMH1_ENST00000372595.1_Missense_Mutation_p.H311P|SCMH1_ENST00000372596.1_Missense_Mutation_p.H311P|SCMH1_ENST00000372597.1_Missense_Mutation_p.H325P	p.H372P	NM_001031694.2	NP_001026864.1	Q96GD3	SCMH1_HUMAN			11	1483	-	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)	372						Missense_Mutation	SNP	ENST00000326197.7	37	c.1115A>C	CCDS30688.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.633073	0.87660	.	.	ENSG00000010803	ENST00000361705;ENST00000456518;ENST00000402904;ENST00000397174;ENST00000397171;ENST00000361191;ENST00000372597;ENST00000372596;ENST00000337495;ENST00000372595;ENST00000326197	T;T;T;T;T;T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83	6.03	6.03	0.97812	.	0.062827	0.64402	D	0.000005	T	0.65015	0.2651	L	0.58810	1.83	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.997	D;D;D;D	0.87578	0.998;0.997;0.996;0.993	T	0.62671	-0.6805	10	0.37606	T	0.19	.	15.4485	0.75253	0.0:0.0:0.0:1.0	.	214;382;325;372	B4DRQ8;Q96GD3-2;Q96GD3-4;Q96GD3	.;.;.;SCMH1_HUMAN	P	325;214;372;352;311;311;325;311;382;311;372	ENSP00000354996:H325P;ENSP00000403974:H214P;ENSP00000386079:H372P;ENSP00000380359:H352P;ENSP00000380356:H311P;ENSP00000354656:H311P;ENSP00000361678:H325P;ENSP00000361677:H311P;ENSP00000337352:H382P;ENSP00000361676:H311P;ENSP00000318094:H372P	ENSP00000318094:H372P	H	-	2	0	SCMH1	41287110	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.675000	0.84002	2.323000	0.78572	0.529000	0.55759	CAC		0.498	SCMH1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015656.1			9	102	0	0	0	1	0	9	102				
TP53BP1	7158	broad.mit.edu	37	15	43738684	43738684	+	Missense_Mutation	SNP	C	C	A			TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	64f1b3b9-24c9-4715-b6ce-834b3443d46f	g.chr15:43738684C>A	ENST00000263801.3	-	14	3178	c.2926G>T	c.(2926-2928)Ggg>Tgg	p.G976W	TP53BP1_ENST00000382044.4_Missense_Mutation_p.G981W|TP53BP1_ENST00000450115.2_Missense_Mutation_p.G981W|TP53BP1_ENST00000382039.3_Missense_Mutation_p.G981W|TP53BP1_ENST00000605155.1_5'Flank	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	976					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GGGGCAGCCCCAGAATCCCCT	0.473								Other conserved DNA damage response genes																														ENST00000263801.3																			0				breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72						c.(2926-2928)Ggg>Tgg	Other conserved DNA damage response genes	tumor protein p53 binding protein 1							101.0	101.0	101.0					15																	43738684		2201	4298	6499	SO:0001583	missense	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43738684C>A	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.2926G>T	15.37:g.43738684C>A	ENSP00000263801:p.Gly976Trp					TP53BP1_ENST00000382039.3_Missense_Mutation_p.G981W|TP53BP1_ENST00000450115.2_Missense_Mutation_p.G981W|TP53BP1_ENST00000382044.4_Missense_Mutation_p.G981W	p.G976W	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	14	3178	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	976					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	c.2926G>T	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	C	18.75	3.691599	0.68271	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546	T;T;T;T;T	0.10005	3.71;3.71;3.71;3.71;2.92	5.47	4.54	0.55810	.	0.636189	0.16408	N	0.215760	T	0.27384	0.0672	M	0.65975	2.015	0.24486	N	0.994329	D;D;D;D	0.69078	0.991;0.994;0.997;0.997	P;P;D;D	0.65140	0.88;0.858;0.932;0.932	T	0.02610	-1.1134	10	0.72032	D	0.01	-2.455	10.7683	0.46308	0.1332:0.7931:0.0:0.0737	.	981;976;981;981	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	W	976;981;981;981;941	ENSP00000263801:G976W;ENSP00000371475:G981W;ENSP00000371470:G981W;ENSP00000393497:G981W;ENSP00000388028:G941W	ENSP00000263801:G976W	G	-	1	0	TP53BP1	41525976	0.483000	0.25956	1.000000	0.80357	0.990000	0.78478	0.860000	0.27871	2.729000	0.93468	0.655000	0.94253	GGG		0.473	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			84	87	1	0	1.02218e-41	1	1.30278e-41	84	87				
PRPF40B	25766	broad.mit.edu	37	12	50027256	50027256	+	Missense_Mutation	SNP	G	G	A			TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	64f1b3b9-24c9-4715-b6ce-834b3443d46f	g.chr12:50027256G>A	ENST00000380281.1	+	7	504	c.440G>A	c.(439-441)gGc>gAc	p.G147D	PRPF40B_ENST00000548825.2_Missense_Mutation_p.G169D|PRPF40B_ENST00000261897.1_Missense_Mutation_p.G141D			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	147	WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						TCGGACACAGGCAAACCTTAT	0.552																																						ENST00000261897.1																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						c.(421-423)gGc>gAc		PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)							143.0	157.0	152.0					12																	50027256		2203	4300	6503	SO:0001583	missense	25766				mRNA processing|RNA splicing	nuclear speck		g.chr12:50027256G>A	AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.440G>A	12.37:g.50027256G>A	ENSP00000369634:p.Gly147Asp					PRPF40B_ENST00000548825.2_Missense_Mutation_p.G169D|PRPF40B_ENST00000380281.1_Missense_Mutation_p.G147D	p.G141D			Q6NWY9	PR40B_HUMAN			7	973	+			147			WW 2.		O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Missense_Mutation	SNP	ENST00000380281.1	37	c.422G>A		.	.	.	.	.	.	.	.	.	.	G	22.1	4.249463	0.80024	.	.	ENSG00000110844	ENST00000548825;ENST00000261897;ENST00000380281	D;D;D	0.94862	-3.54;-3.54;-3.54	4.54	4.54	0.55810	WW/Rsp5/WWP (6);	0.000000	0.64402	D	0.000004	D	0.97657	0.9232	M	0.90309	3.105	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.97905	1.0305	9	.	.	.	-18.6196	17.259	0.87064	0.0:0.0:1.0:0.0	.	147;141;147	Q6NWY9;Q6NWY9-2;Q6NWY9-3	PR40B_HUMAN;.;.	D	169;141;147	ENSP00000448073:G169D;ENSP00000261897:G141D;ENSP00000369634:G147D	.	G	+	2	0	PRPF40B	48313523	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.288000	0.96055	2.814000	0.96858	0.655000	0.94253	GGC		0.552	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272		5	319	0	0	0	1	0	5	319				
GPR160	26996	broad.mit.edu	37	3	169802316	169802316	+	Missense_Mutation	SNP	T	T	G			TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	64f1b3b9-24c9-4715-b6ce-834b3443d46f	g.chr3:169802316T>G	ENST00000355897.5	+	4	1164	c.556T>G	c.(556-558)Tca>Gca	p.S186A		NM_014373.2	NP_055188.1	Q9UJ42	GP160_HUMAN	G protein-coupled receptor 160	186						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)	8	all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			TTACTGGCTGTCATTTTTCAT	0.398																																						ENST00000355897.5																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)	8						c.(556-558)Tca>Gca		G protein-coupled receptor 160							77.0	75.0	76.0					3																	169802316		2203	4300	6503	SO:0001583	missense	26996					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:169802316T>G	AB083583	CCDS3211.1	3q26.2-q27	2012-08-21			ENSG00000173890	ENSG00000173890		"""GPCR / Class A : Orphans"""	23693	protein-coding gene	gene with protein product						12044878	Standard	NM_014373		Approved	GPCR150, GPCR1	uc003fgi.3	Q9UJ42	OTTHUMG00000158776	ENST00000355897.5:c.556T>G	3.37:g.169802316T>G	ENSP00000348161:p.Ser186Ala						p.S186A	NM_014373.2	NP_055188.1	Q9UJ42	GP160_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)		4	1164	+	all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		186					D3DNQ2	Missense_Mutation	SNP	ENST00000355897.5	37	c.556T>G	CCDS3211.1	.	.	.	.	.	.	.	.	.	.	T	9.567	1.120004	0.20877	.	.	ENSG00000173890	ENST00000355897	.	.	.	5.7	4.52	0.55395	GPCR, rhodopsin-like superfamily (1);	0.240098	0.32836	N	0.005581	T	0.51329	0.1668	M	0.65498	2.005	0.28285	N	0.923793	B	0.25048	0.117	B	0.23018	0.043	T	0.51108	-0.8747	9	0.52906	T	0.07	.	13.0878	0.59151	0.0:0.0:0.1337:0.8663	.	186	Q9UJ42	GP160_HUMAN	A	186	.	ENSP00000348161:S186A	S	+	1	0	GPR160	171285010	0.991000	0.36638	0.159000	0.22649	0.105000	0.19272	3.147000	0.50639	0.950000	0.37743	0.533000	0.62120	TCA		0.398	GPR160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352167.1	NM_014373		9	45	0	0	0	1	0	9	45				
PURG	29942	broad.mit.edu	37	8	30889322	30889322	+	Missense_Mutation	SNP	T	T	G			TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	64f1b3b9-24c9-4715-b6ce-834b3443d46f	g.chr8:30889322T>G	ENST00000475541.1	-	1	1909	c.977A>C	c.(976-978)aAc>aCc	p.N326T	WRN_ENST00000298139.5_5'Flank|PURG_ENST00000339382.2_Intron	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	326						nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		TTTATGGCTGTTGCAAATTTT	0.388																																						ENST00000475541.1																			0				endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12						c.(976-978)aAc>aCc		purine-rich element binding protein G							109.0	108.0	108.0					8																	30889322		1253	2278	3531	SO:0001583	missense	29942					nucleus	DNA binding	g.chr8:30889322T>G	AF195513	CCDS34878.1, CCDS6081.1	8p11	2004-02-09			ENSG00000172733	ENSG00000172733			17930	protein-coding gene	gene with protein product						12034829	Standard	NM_013357		Approved	PURG-A, PURG-B	uc003xin.3	Q9UJV8	OTTHUMG00000157357	ENST00000475541.1:c.977A>C	8.37:g.30889322T>G	ENSP00000418721:p.Asn326Thr					PURG_ENST00000339382.2_Intron	p.N326T	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)	1	1909	-			326					Q8TE64	Missense_Mutation	SNP	ENST00000475541.1	37	c.977A>C	CCDS6081.1	.	.	.	.	.	.	.	.	.	.	T	11.18	1.562138	0.27915	.	.	ENSG00000172733	ENST00000475541	T	0.23348	1.91	5.1	3.92	0.45320	.	.	.	.	.	T	0.18635	0.0447	L	0.34521	1.04	0.34255	D	0.679234	B	0.30068	0.267	B	0.19946	0.027	T	0.26467	-1.0102	9	0.62326	D	0.03	-13.1061	10.78	0.46371	0.0:0.0776:0.0:0.9224	.	326	Q9UJV8	PURG_HUMAN	T	326	ENSP00000418721:N326T	ENSP00000418721:N326T	N	-	2	0	PURG	31008864	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.646000	0.37249	1.914000	0.55421	0.533000	0.62120	AAC		0.388	PURG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348565.1	NM_013357		3	1	0	0	0	1	0	3	1				
MTHFR	4524	broad.mit.edu	37	1	11856448	11856448	+	Missense_Mutation	SNP	T	T	G			TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	64f1b3b9-24c9-4715-b6ce-834b3443d46f	g.chr1:11856448T>G	ENST00000376592.1	-	4	723	c.595A>C	c.(595-597)Aaa>Caa	p.K199Q	MTHFR_ENST00000376590.3_Missense_Mutation_p.K199Q|MTHFR_ENST00000376583.3_Missense_Mutation_p.K240Q|MTHFR_ENST00000376585.1_Missense_Mutation_p.K240Q			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	199					blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|neuron projection (GO:0043005)	flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661)			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)	GGGTGGCCTTTGGGGTAACCT	0.562																																						ENST00000376592.1																			0				NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(595-597)Aaa>Caa		methylenetetrahydrofolate reductase (NAD(P)H)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)						97.0	97.0	97.0					1																	11856448		2203	4300	6503	SO:0001583	missense	4524				blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding	g.chr1:11856448T>G	BC053509	CCDS137.1	1p36.3	2014-09-17	2010-05-04		ENSG00000177000	ENSG00000177000	1.5.1.20		7436	protein-coding gene	gene with protein product		607093	"""5,10-methylenetetrahydrofolate reductase (NADPH)"""			7920641	Standard	NM_005957		Approved		uc001atc.2	P42898	OTTHUMG00000002277	ENST00000376592.1:c.595A>C	1.37:g.11856448T>G	ENSP00000365777:p.Lys199Gln					MTHFR_ENST00000376590.3_Missense_Mutation_p.K199Q|MTHFR_ENST00000376583.3_Missense_Mutation_p.K240Q|MTHFR_ENST00000376585.1_Missense_Mutation_p.K240Q	p.K199Q			P42898	MTHR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	4	723	-	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	199					B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2	Missense_Mutation	SNP	ENST00000376592.1	37	c.595A>C	CCDS137.1	.	.	.	.	.	.	.	.	.	.	T	17.88	3.497891	0.64186	.	.	ENSG00000177000	ENST00000376592;ENST00000376583;ENST00000376590;ENST00000376585	D;D;D;D	0.91894	-2.93;-2.93;-2.93;-2.93	4.98	4.98	0.66077	.	0.185406	0.56097	D	0.000023	T	0.79070	0.4384	N	0.01352	-0.895	0.32536	N	0.534252	B;B	0.10296	0.0;0.003	B;B	0.15052	0.007;0.012	T	0.78257	-0.2274	10	0.38643	T	0.18	.	13.822	0.63329	0.0:0.0:0.0:1.0	.	199;240	P42898;Q5SNW6	MTHR_HUMAN;.	Q	199;240;199;240	ENSP00000365777:K199Q;ENSP00000365767:K240Q;ENSP00000365775:K199Q;ENSP00000365770:K240Q	ENSP00000365767:K240Q	K	-	1	0	MTHFR	11779035	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.349000	0.79376	1.998000	0.58463	0.533000	0.62120	AAA		0.562	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006538.1	NM_005957		7	96	0	0	0	1	0	7	96				
HOXD12	3238	broad.mit.edu	37	2	176964720	176964720	+	Missense_Mutation	SNP	C	C	T			TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	64f1b3b9-24c9-4715-b6ce-834b3443d46f	g.chr2:176964720C>T	ENST00000406506.2	+	1	263	c.191C>T	c.(190-192)gCg>gTg	p.A64V	HOXD12_ENST00000404162.2_Missense_Mutation_p.A64V			P35452	HXD12_HUMAN	homeobox D12	64				QPA -> TC (in Ref. 1; AAF79044). {ECO:0000305}.	embryonic digit morphogenesis (GO:0042733)|pattern specification process (GO:0007389)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		GCGCAGCCTGCGGGCGCCACT	0.751																																						ENST00000406506.2																			0				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10						c.(190-192)gCg>gTg		homeobox D12							5.0	6.0	5.0					2																	176964720		1374	3155	4529	SO:0001583	missense	3238					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176964720C>T		CCDS46456.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170178	ENSG00000170178		"""Homeoboxes / ANTP class : HOXL subclass"""	5135	protein-coding gene	gene with protein product		142988	"""homeo box D12"""	HOX4H		1675198, 1973146	Standard	NM_021193		Approved		uc010zev.1	P35452	OTTHUMG00000150358	ENST00000406506.2:c.191C>T	2.37:g.176964720C>T	ENSP00000385586:p.Ala64Val					HOXD12_ENST00000404162.2_Missense_Mutation_p.A64V	p.A64V			P35452	HXD12_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)	1	263	+			64	QPA -> TC (in Ref. 1; AAF79044).				B5MCP0|Q0VAD7|Q0VAD8|Q9NS03	Missense_Mutation	SNP	ENST00000406506.2	37	c.191C>T	CCDS46456.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.411499	0.62399	.	.	ENSG00000170178	ENST00000406506;ENST00000404162	T;T	0.35605	1.3;1.3	5.28	4.4	0.53042	.	0.319538	0.33553	N	0.004795	T	0.32882	0.0844	L	0.56769	1.78	0.09310	N	1	D;P	0.58268	0.982;0.669	B;B	0.41946	0.371;0.085	T	0.35251	-0.9796	10	0.62326	D	0.03	.	8.0727	0.30699	0.0:0.8173:0.0:0.1827	.	64;64	B5MCD3;P35452	.;HXD12_HUMAN	V	64	ENSP00000385586:A64V;ENSP00000385132:A64V	ENSP00000385132:A64V	A	+	2	0	HOXD12	176672966	0.992000	0.36948	0.954000	0.39281	0.981000	0.71138	1.753000	0.38359	1.227000	0.43598	0.655000	0.94253	GCG		0.751	HOXD12-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359253.2	NM_021193		2	1	0	0	0	1	0	2	1				
FCRL1	115350	broad.mit.edu	37	1	157772382	157772382	+	Missense_Mutation	SNP	A	A	C			TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	64f1b3b9-24c9-4715-b6ce-834b3443d46f	g.chr1:157772382A>C	ENST00000368176.3	-	4	459	c.392T>G	c.(391-393)gTc>gGc	p.V131G	FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000358292.3_Missense_Mutation_p.V131G|FCRL1_ENST00000491942.1_Missense_Mutation_p.V131G	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	131	Ig-like C2-type 2.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GCAGATGAGGACCAGCCTGTC	0.542																																					GBM(54;482 1003 11223 30131 35730)	ENST00000358292.3																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42						c.(391-393)gTc>gGc		Fc receptor-like 1							68.0	61.0	63.0					1																	157772382		2203	4300	6503	SO:0001583	missense	115350					integral to membrane|plasma membrane	receptor activity	g.chr1:157772382A>C	BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.392T>G	1.37:g.157772382A>C	ENSP00000357158:p.Val131Gly					FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000368176.3_Missense_Mutation_p.V131G|FCRL1_ENST00000491942.1_Missense_Mutation_p.V131G	p.V131G	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		4	443	-	all_hematologic(112;0.0378)		131			Ig-like C2-type 2.		B2RE05|Q8N759|Q8NDI0|Q96PJ6	Missense_Mutation	SNP	ENST00000368176.3	37	c.392T>G	CCDS1170.1	.	.	.	.	.	.	.	.	.	.	A	14.11	2.436286	0.43224	.	.	ENSG00000163534	ENST00000358292;ENST00000368176;ENST00000491942	T;T;T	0.13901	2.55;2.55;2.55	5.41	3.08	0.35506	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.586754	0.16416	N	0.215370	T	0.30665	0.0772	M	0.93375	3.41	0.47905	D	0.999544	D;D;D	0.76494	0.997;0.995;0.999	D;D;D	0.71656	0.974;0.962;0.971	T	0.12477	-1.0546	10	0.66056	D	0.02	.	7.2524	0.26156	0.8242:0.0:0.1758:0.0	.	131;131;131	Q96LA6-3;Q96LA6-2;Q96LA6	.;.;FCRL1_HUMAN	G	131	ENSP00000351039:V131G;ENSP00000357158:V131G;ENSP00000418130:V131G	ENSP00000351039:V131G	V	-	2	0	FCRL1	156039006	1.000000	0.71417	0.998000	0.56505	0.316000	0.28119	2.156000	0.42310	0.445000	0.26639	0.533000	0.62120	GTC		0.542	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051401.1	NM_052938		5	23	0	0	0	1	0	5	23				
POLR1A	25885	broad.mit.edu	37	2	86297188	86297188	+	Missense_Mutation	SNP	C	C	T			TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	64f1b3b9-24c9-4715-b6ce-834b3443d46f	g.chr2:86297188C>T	ENST00000263857.6	-	13	2197	c.1819G>A	c.(1819-1821)Gag>Aag	p.E607K	POLR1A_ENST00000409681.1_Missense_Mutation_p.E607K			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	607					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						ACGTAGGCCTCGGCCCGGCCC	0.572																																						ENST00000263857.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						c.(1819-1821)Gag>Aag		polymerase (RNA) I polypeptide A, 194kDa							40.0	42.0	41.0					2																	86297188		2028	4167	6195	SO:0001583	missense	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86297188C>T	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.1819G>A	2.37:g.86297188C>T	ENSP00000263857:p.Glu607Lys					POLR1A_ENST00000409681.1_Missense_Mutation_p.E607K	p.E607K			O95602	RPA1_HUMAN			13	2197	-			607					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	37	c.1819G>A	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.709521	0.89018	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	D;D	0.95238	-3.65;-3.65	5.3	5.3	0.74995	RNA polymerase, alpha subunit (1);RNA polymerase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98554	0.9517	H	0.98351	4.21	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99787	1.1030	10	0.87932	D	0	-30.4857	18.5668	0.91119	0.0:1.0:0.0:0.0	.	607	O95602	RPA1_HUMAN	K	607	ENSP00000263857:E607K;ENSP00000386300:E607K	ENSP00000263857:E607K	E	-	1	0	POLR1A	86150699	1.000000	0.71417	0.945000	0.38365	0.949000	0.60115	7.466000	0.80914	2.479000	0.83701	0.655000	0.94253	GAG		0.572	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		19	15	0	0	0	1	0	19	15				
PADI2	11240	broad.mit.edu	37	1	17411155	17411155	+	Frame_Shift_Del	DEL	G	G	-	rs149752241		TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	6f4ff365-ee63-40d0-8f71-ed062f755d22	g.chr1:17411155delG	ENST00000375486.4	-	8	940	c.877delC	c.(877-879)cggfs	p.R293fs	PADI2_ENST00000375481.1_Frame_Shift_Del_p.R293fs|PADI2_ENST00000444885.2_Intron|PADI2_ENST00000466151.1_5'Flank	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	293					chromatin-mediated maintenance of transcription (GO:0048096)|histone H3-R26 citrullination (GO:0036413)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of lymphocyte chemotaxis (GO:1901624)|protein citrullination (GO:0018101)|regulation of chromatin disassembly (GO:0010848)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptionally active chromatin (GO:0035327)	calcium ion binding (GO:0005509)|estrogen receptor binding (GO:0030331)|protein-arginine deiminase activity (GO:0004668)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	GGAGCAATCCGGAATATCACG	0.577																																						ENST00000375486.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29						c.(877-879)ggfs		peptidyl arginine deiminase, type II	L-Citrulline(DB00155)						94.0	62.0	73.0					1																	17411155		2199	4294	6493	SO:0001589	frameshift_variant	11240				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17411155delG	AB030176	CCDS177.1	1p35.2-p35.1	2008-02-05			ENSG00000117115	ENSG00000117115	3.5.3.15	"""Peptidyl arginine deiminases"""	18341	protein-coding gene	gene with protein product		607935				2768262	Standard	NM_007365		Approved	KIAA0994, PDI2	uc001baf.3	Q9Y2J8	OTTHUMG00000002295	ENST00000375486.4:c.877delC	1.37:g.17411155delG	ENSP00000364635:p.Arg293fs					PADI2_ENST00000444885.2_Intron|PADI2_ENST00000375481.1_Frame_Shift_Del_p.R293fs	p.R293fs	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	8	940	-		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)	293					Q96DA7|Q9UPN2	Frame_Shift_Del	DEL	ENST00000375486.4	37	c.877delC	CCDS177.1																																																																																				0.577	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006624.1			2	4						2	4	---	---	---	---
KDF1	126695	broad.mit.edu	37	1	27276560	27276560	+	Nonstop_Mutation	SNP	T	T	G			TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	64f1b3b9-24c9-4715-b6ce-834b3443d46f	g.chr1:27276560T>G	ENST00000320567.5	-	4	1285	c.1197A>C	c.(1195-1197)taA>taC	p.*399Y		NM_152365.2	NP_689578.2	Q8NAX2	KDF1_HUMAN		0					developmental growth (GO:0048589)|establishment of skin barrier (GO:0061436)|keratinocyte development (GO:0003334)|limb epidermis development (GO:0060887)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of stem cell proliferation (GO:2000647)|positive regulation of epidermal cell differentiation (GO:0045606)|regulation of epidermal cell division (GO:0010482)	cell cortex (GO:0005938)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		CTGGCAGGGGTTAGCAGTACA	0.602																																						ENST00000320567.5																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17						c.(1195-1197)taA>taC		chromosome 1 open reading frame 172							69.0	56.0	60.0					1																	27276560		2203	4300	6503	SO:0001578	stop_lost	126695							g.chr1:27276560T>G																												ENST00000320567.5:c.1197A>C	1.37:g.27276560T>G							p.*399Y	NM_152365.2	NP_689578.2	Q8NAX2	CA172_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)	4	1285	-		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	0					Q5QP32|Q8N0S7	Nonstop_Mutation	SNP	ENST00000320567.5	37	c.1197A>C	CCDS293.1	.	.	.	.	.	.	.	.	.	.	T	10.46	1.356019	0.24598	.	.	ENSG00000175707	ENST00000320567	.	.	.	4.31	3.16	0.36331	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.4727	0.32995	0.0:0.1035:0.0:0.8965	.	.	.	.	Y	399	.	.	X	-	3	2	C1orf172	27149147	1.000000	0.71417	0.997000	0.53966	0.511000	0.34104	2.006000	0.40874	1.812000	0.52913	0.533000	0.62120	TAA		0.602	C1orf172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012340.1			5	45	0	0	0	1	0	5	45				
UBA6-AS1	550112	broad.mit.edu	37	4	68632404	68632404	+	RNA	DEL	C	C	-			TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	6f4ff365-ee63-40d0-8f71-ed062f755d22	g.chr4:68632404delC	ENST00000500538.2	+	0	1905				UBA6-AS1_ENST00000502758.1_RNA					UBA6 antisense RNA 1 (head to head)																		cacacacacacacacacacac	0.443																																						ENST00000500538.2																			0																																																			0							g.chr4:68632404delC			4q13.2	2014-01-15			ENSG00000248049	ENSG00000248049		"""Long non-coding RNAs"""	49083	non-coding RNA	RNA, long non-coding							Standard	NR_015439		Approved	LOC550112			OTTHUMG00000160769		4.37:g.68632404delC						RP11-453E17.1_ENST00000502758.1_RNA								0	1905	+									RNA	DEL	ENST00000500538.2	37																																																																																						0.443	UBA6-AS1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000362199.2			2	4						2	4	---	---	---	---
OVOS2	144203	broad.mit.edu	37	12	31269189	31269190	+	RNA	INS	-	-	ATCAT	rs25559|rs10665556	byFrequency	TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	6f4ff365-ee63-40d0-8f71-ed062f755d22	g.chr12:31269189_31269190insATCAT	ENST00000542490.1	-	0	165																				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41						CATGAGAACTCATTACCATGAT	0.351														3178	0.634585	0.7088	0.611	5008	,	,		12379	0.8274		0.4284	False		,,,				2504	0.5644					ENST00000542490.1																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41																																														0							g.chr12:31269189_31269190insATCAT																													12.37:g.31269189_31269190insATCAT														0	165	-									RNA	INS	ENST00000542490.1	37																																																																																						0.351	RP11-551L14.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400342.1			6	8						6	8	---	---	---	---
PADI2	11240	broad.mit.edu	37	1	17411155	17411155	+	Frame_Shift_Del	DEL	G	G	-	rs149752241		TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	64f1b3b9-24c9-4715-b6ce-834b3443d46f	g.chr1:17411155delG	ENST00000375486.4	-	8	940	c.877delC	c.(877-879)cggfs	p.R293fs	PADI2_ENST00000375481.1_Frame_Shift_Del_p.R293fs|PADI2_ENST00000444885.2_Intron|PADI2_ENST00000466151.1_5'Flank	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	293					chromatin-mediated maintenance of transcription (GO:0048096)|histone H3-R26 citrullination (GO:0036413)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of lymphocyte chemotaxis (GO:1901624)|protein citrullination (GO:0018101)|regulation of chromatin disassembly (GO:0010848)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptionally active chromatin (GO:0035327)	calcium ion binding (GO:0005509)|estrogen receptor binding (GO:0030331)|protein-arginine deiminase activity (GO:0004668)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	GGAGCAATCCGGAATATCACG	0.577																																						ENST00000375486.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29						c.(877-879)ggfs		peptidyl arginine deiminase, type II	L-Citrulline(DB00155)						94.0	62.0	73.0					1																	17411155		2199	4294	6493	SO:0001589	frameshift_variant	11240				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17411155delG	AB030176	CCDS177.1	1p35.2-p35.1	2008-02-05			ENSG00000117115	ENSG00000117115	3.5.3.15	"""Peptidyl arginine deiminases"""	18341	protein-coding gene	gene with protein product		607935				2768262	Standard	NM_007365		Approved	KIAA0994, PDI2	uc001baf.3	Q9Y2J8	OTTHUMG00000002295	ENST00000375486.4:c.877delC	1.37:g.17411155delG	ENSP00000364635:p.Arg293fs					PADI2_ENST00000444885.2_Intron|PADI2_ENST00000375481.1_Frame_Shift_Del_p.R293fs	p.R293fs	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	8	940	-		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)	293					Q96DA7|Q9UPN2	Frame_Shift_Del	DEL	ENST00000375486.4	37	c.877delC	CCDS177.1																																																																																				0.577	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006624.1			2	4						2	4	---	---	---	---
C2orf78	388960	broad.mit.edu	37	2	74043341	74043342	+	Frame_Shift_Ins	INS	-	-	C	rs74479148|rs148619800		TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	64f1b3b9-24c9-4715-b6ce-834b3443d46f	g.chr2:74043341_74043342insC	ENST00000409561.1	+	3	2112_2113	c.1991_1992insC	c.(1990-1995)aaccgcfs	p.R665fs		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	665										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						AACACCCAAAACCGCCAGCCAT	0.495																																						ENST00000409561.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						c.(1990-1992)acgfs		chromosome 2 open reading frame 78																																				SO:0001589	frameshift_variant	388960							g.chr2:74043341_74043342insC	AC092653, AC136006, AK125975	CCDS46338.1	2p13.2	2008-07-18			ENSG00000187833	ENSG00000187833			34349	protein-coding gene	gene with protein product							Standard	NM_001080474		Approved	FLJ43987, hCG1989538, COG5373	uc002sjr.1	A6NCI8	OTTHUMG00000152819	ENST00000409561.1:c.1993dupC	2.37:g.74043343_74043343dupC	ENSP00000387124:p.Arg665fs						p.T664fs	NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN			3	2112_2113	+			664						Frame_Shift_Ins	INS	ENST00000409561.1	37	c.1991_1992insC	CCDS46338.1																																																																																				0.495	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328083.1	NM_001080474		13	48						13	48	---	---	---	---
AC073321.4	0	broad.mit.edu	37	2	217475031	217475032	+	lincRNA	INS	-	-	AA	rs71401156|rs59472818	byFrequency	TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	64f1b3b9-24c9-4715-b6ce-834b3443d46f	g.chr2:217475031_217475032insAA	ENST00000441803.1	+	0	195																											AATTTTATTTCAAAAAAAAAAA	0.376																																						ENST00000441803.1																			0																																																			0							g.chr2:217475031_217475032insAA																													2.37:g.217475040_217475041dupAA														0	195	+									RNA	INS	ENST00000441803.1	37																																																																																						0.376	AC073321.4-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000339548.2			3	5						3	5	---	---	---	---
UBA6-AS1	550112	broad.mit.edu	37	4	68632404	68632404	+	RNA	DEL	C	C	-			TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	64f1b3b9-24c9-4715-b6ce-834b3443d46f	g.chr4:68632404delC	ENST00000500538.2	+	0	1905				UBA6-AS1_ENST00000502758.1_RNA					UBA6 antisense RNA 1 (head to head)																		cacacacacacacacacacac	0.443																																						ENST00000500538.2																			0																																																			0							g.chr4:68632404delC			4q13.2	2014-01-15			ENSG00000248049	ENSG00000248049		"""Long non-coding RNAs"""	49083	non-coding RNA	RNA, long non-coding							Standard	NR_015439		Approved	LOC550112			OTTHUMG00000160769		4.37:g.68632404delC						RP11-453E17.1_ENST00000502758.1_RNA								0	1905	+									RNA	DEL	ENST00000500538.2	37																																																																																						0.443	UBA6-AS1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000362199.2			2	4						2	4	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82595145	82595146	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	64f1b3b9-24c9-4715-b6ce-834b3443d46f	g.chr7:82595145_82595146insG	ENST00000333891.9	-	4	4295_4296	c.3958_3959insC	c.(3958-3960)cagfs	p.Q1320fs	PCLO_ENST00000423517.2_Frame_Shift_Ins_p.Q1320fs	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGGCTGTGGCTGTTCTTTTATT	0.406																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(3958-3960)gccfs		piccolo presynaptic cytomatrix protein																																				SO:0001589	frameshift_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82595145_82595146insG	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.3959dupC	7.37:g.82595146_82595146dupG	ENSP00000334319:p.Gln1320fs					PCLO_ENST00000333891.8_Frame_Shift_Ins_p.A1320fs	p.A1320fs	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			4	4295_4296	-			1259						Frame_Shift_Ins	INS	ENST00000333891.9	37	c.3958_3959insC	CCDS47630.1																																																																																				0.406	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		9	150						9	150	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100352835	100352836	+	RNA	INS	-	-	G	rs145118358		TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	64f1b3b9-24c9-4715-b6ce-834b3443d46f	g.chr7:100352835_100352836insG	ENST00000348028.3	+	0	3289				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGACAGAGGCTGTTTTCCCCTT	0.545																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)																																						7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100352835_100352836insG	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100352836_100352836dupG						ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	3272	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	INS	ENST00000348028.3	37																																																																																						0.545	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		16	199						16	199	---	---	---	---
PNPLA8	50640	broad.mit.edu	37	7	108155503	108155504	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	64f1b3b9-24c9-4715-b6ce-834b3443d46f	g.chr7:108155503_108155504insC	ENST00000422087.1	-	4	838_839	c.432_433insG	c.(430-435)tggttafs	p.L145fs	PNPLA8_ENST00000453144.1_Frame_Shift_Ins_p.L45fs|PNPLA8_ENST00000426128.2_Frame_Shift_Ins_p.L145fs|PNPLA8_ENST00000257694.8_Frame_Shift_Ins_p.L145fs|PNPLA8_ENST00000436062.1_Frame_Shift_Ins_p.L145fs|PNPLA8_ENST00000388728.5_Frame_Shift_Ins_p.L145fs|PNPLA8_ENST00000483879.1_Intron	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	145					arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|cell death (GO:0008219)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|linoleic acid metabolic process (GO:0043651)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine catabolic process (GO:0034638)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylethanolamine catabolic process (GO:0046338)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						TTCTGTTTTAACCAGCCACTAT	0.327																																						ENST00000426128.2																			0				breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						c.(430-435)tgtaaafs		patatin-like phospholipase domain containing 8																																				SO:0001589	frameshift_variant	50640				fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity	g.chr7:108155503_108155504insC	AF217519	CCDS34733.1, CCDS59075.1, CCDS59508.1	7q31	2012-07-31			ENSG00000135241	ENSG00000135241		"""Patatin-like phospholipase domain containing"""	28900	protein-coding gene	gene with protein product		612123				10744668, 10833412, 16799181, 19029121	Standard	NM_015723		Approved	IPLA2G, IPLA2-2, iPLA2gamma	uc003vfj.2	Q9NP80	OTTHUMG00000154870	ENST00000422087.1:c.433dupG	7.37:g.108155505_108155505dupC	ENSP00000410804:p.Leu145fs					PNPLA8_ENST00000453144.1_Frame_Shift_Ins_p.CK44fs|PNPLA8_ENST00000436062.1_Frame_Shift_Ins_p.CK144fs|PNPLA8_ENST00000388728.5_Frame_Shift_Ins_p.CK144fs|PNPLA8_ENST00000422087.1_Frame_Shift_Ins_p.CK144fs|PNPLA8_ENST00000257694.8_Frame_Shift_Ins_p.CK144fs|PNPLA8_ENST00000483879.1_Intron	p.CK144fs	NM_001256009.1	NP_001242938.1	Q9NP80	PLPL8_HUMAN			2	557_558	-			144					A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	Frame_Shift_Ins	INS	ENST00000422087.1	37	c.432_433insG	CCDS34733.1																																																																																				0.327	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337475.1	NM_015723		8	92						8	92	---	---	---	---
PODXL	5420	broad.mit.edu	37	7	131195806	131195807	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	64f1b3b9-24c9-4715-b6ce-834b3443d46f	g.chr7:131195806_131195807insG	ENST00000378555.3	-	2	733_734	c.486_487insC	c.(484-489)agcagcfs	p.S163fs	PODXL_ENST00000541194.1_Frame_Shift_Ins_p.S165fs|PODXL_ENST00000322985.9_Frame_Shift_Ins_p.S163fs|PODXL_ENST00000465001.1_5'Flank|PODXL_ENST00000537928.1_Frame_Shift_Ins_p.S163fs			O00592	PODXL_HUMAN	podocalyxin-like	163	Thr-rich.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ACACTGTGGCTGCTTTTCCCCC	0.535																																						ENST00000541194.1																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(490-495)aggccafs		podocalyxin-like																																				SO:0001589	frameshift_variant	5420				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		g.chr7:131195806_131195807insG		CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.487dupC	7.37:g.131195807_131195807dupG	ENSP00000367817:p.Ser163fs					PODXL_ENST00000322985.9_Frame_Shift_Ins_p.RP162fs|PODXL_ENST00000378555.3_Frame_Shift_Ins_p.RP162fs|PODXL_ENST00000537928.1_Frame_Shift_Ins_p.RP162fs	p.RP164fs	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN			2	749_750	-	Melanoma(18;0.162)		162			Thr-rich.		A6NHX8|Q52LZ7|Q53ER6	Frame_Shift_Ins	INS	ENST00000378555.3	37	c.492_493insC	CCDS34755.1																																																																																				0.535	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111		7	329						7	329	---	---	---	---
ADAM28	10863	broad.mit.edu	37	8	24207413	24207414	+	Frame_Shift_Ins	INS	-	-	G	rs139883608		TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	64f1b3b9-24c9-4715-b6ce-834b3443d46f	g.chr8:24207413_24207414insG	ENST00000265769.4	+	19	2137_2138	c.2027_2028insG	c.(2026-2031)gcggtcfs	p.V677fs	RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000397649.3_Frame_Shift_Ins_p.G425fs|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	677					spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.A676V(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TTCCCAATGGCGGTCATTTTTG	0.505																																					NSCLC(193;488 2149 22258 34798 40734)	ENST00000265769.4																			1	Substitution - Missense(1)	p.A676V(1)	large_intestine(1)	central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2026-2028)ggtfs		ADAM metallopeptidase domain 28																																				SO:0001589	frameshift_variant	10863				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24207413_24207414insG	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"""ADAM metallopeptidase domain containing"""	206	protein-coding gene	gene with protein product		606188	"""a disintegrin and metalloproteinase domain 28"""				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.2029dupG	8.37:g.24207415_24207415dupG	ENSP00000265769:p.Val677fs					RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000397649.3_Frame_Shift_Ins_p.S425fs|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA	p.G676fs	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	19	2137_2138	+		Prostate(55;0.0959)	676					B2RMV5|Q9Y339|Q9Y3S0	Frame_Shift_Ins	INS	ENST00000265769.4	37	c.2027_2028insG	CCDS34865.1																																																																																				0.505	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778		8	140						8	140	---	---	---	---
FBN1	2200	broad.mit.edu	37	15	48704823	48704824	+	Frame_Shift_Ins	INS	-	-	T	rs398122832		TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	64f1b3b9-24c9-4715-b6ce-834b3443d46f	g.chr15:48704823_48704824insT	ENST00000316623.5	-	65	8623_8624	c.8168_8169insA	c.(8167-8169)tacfs	p.Y2723fs	FBN1_ENST00000561429.1_5'UTR	NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2723					extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CCCGTTTGGGGTAGCCATTGAT	0.515																																						ENST00000316623.5																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(8167-8169)tccfs		fibrillin 1																																				SO:0001589	frameshift_variant	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48704823_48704824insT	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.8169dupA	15.37:g.48704824_48704824dupT	ENSP00000325527:p.Tyr2723fs					FBN1_ENST00000561429.1_5'UTR	p.S2723fs	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	65	8623_8624	-		all_lung(180;0.00279)	2723					B2RUU0|D2JYH6|Q15972|Q75N87	Frame_Shift_Ins	INS	ENST00000316623.5	37	c.8168_8169insA	CCDS32232.1																																																																																				0.515	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			9	230						9	230	---	---	---	---
CNOT1	23019	broad.mit.edu	37	16	58633164	58633165	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	64f1b3b9-24c9-4715-b6ce-834b3443d46f	g.chr16:58633164_58633165insC	ENST00000317147.5	-	2	409_410	c.77_78insG	c.(76-78)cgafs	p.R26fs	CNOT1_ENST00000569240.1_Frame_Shift_Ins_p.R26fs|CNOT1_ENST00000441024.2_Frame_Shift_Ins_p.R26fs	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	26					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GCTGGCTGGCTCGGTAATTTTT	0.455																																						ENST00000317147.5																			0				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87						c.(76-78)cgcfs		CCR4-NOT transcription complex, subunit 1																																				SO:0001589	frameshift_variant	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58633164_58633165insC	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.78dupG	16.37:g.58633165_58633165dupC	ENSP00000320949:p.Arg26fs					CNOT1_ENST00000441024.2_Frame_Shift_Ins_p.R26fs|CNOT1_ENST00000569240.1_Frame_Shift_Ins_p.R26fs	p.R26fs	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	2	409_410	-			26					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Frame_Shift_Ins	INS	ENST00000317147.5	37	c.77_78insG	CCDS10799.1																																																																																				0.455	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		7	72						7	72	---	---	---	---
SYNRG	11276	broad.mit.edu	37	17	35914100	35914101	+	Frame_Shift_Ins	INS	-	-	G	rs147693241		TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	64f1b3b9-24c9-4715-b6ce-834b3443d46f	g.chr17:35914100_35914101insG	ENST00000339208.6	-	14	1864_1865	c.1724_1725insC	c.(1723-1725)acafs	p.T575fs	SYNRG_ENST00000591288.1_Frame_Shift_Ins_p.T414fs|SYNRG_ENST00000345615.4_Frame_Shift_Ins_p.T497fs|SYNRG_ENST00000394378.2_Frame_Shift_Ins_p.T497fs|SYNRG_ENST00000585472.1_Frame_Shift_Ins_p.T496fs|SYNRG_ENST00000346661.4_Frame_Shift_Ins_p.T575fs|SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000502449.2_Frame_Shift_Ins_p.T497fs	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	575	Interaction with A1P1G1 and A1P1G2.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CACTATCGGCTGTTTTAAAATC	0.401																																						ENST00000339208.6																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(1723-1725)agcfs		synergin, gamma																																				SO:0001589	frameshift_variant	11276				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding	g.chr17:35914100_35914101insG	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.1725dupC	17.37:g.35914101_35914101dupG	ENSP00000343610:p.Thr575fs					SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000591288.1_Frame_Shift_Ins_p.S414fs|SYNRG_ENST00000585472.1_Frame_Shift_Ins_p.S496fs|SYNRG_ENST00000502449.2_Frame_Shift_Ins_p.S497fs|SYNRG_ENST00000345615.4_Frame_Shift_Ins_p.S497fs|SYNRG_ENST00000346661.4_Frame_Shift_Ins_p.S575fs|SYNRG_ENST00000394378.2_Frame_Shift_Ins_p.S497fs	p.S575fs	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN			14	1864_1865	-			575			Interaction with A1P1G1 and A1P1G2.		A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Frame_Shift_Ins	INS	ENST00000339208.6	37	c.1724_1725insC	CCDS11321.1																																																																																				0.401	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247		40	156						40	156	---	---	---	---
RNF43	54894	broad.mit.edu	37	17	56435501	56435502	+	Frame_Shift_Ins	INS	-	-	G	rs144487242		TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	64f1b3b9-24c9-4715-b6ce-834b3443d46f	g.chr17:56435501_56435502insG	ENST00000584437.1	-	8	3590_3591	c.1635_1636insC	c.(1633-1638)tccagcfs	p.S546fs	RNF43_ENST00000583753.1_Frame_Shift_Ins_p.S505fs|RNF43_ENST00000577716.1_Frame_Shift_Ins_p.S546fs|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000407977.2_Frame_Shift_Ins_p.S546fs|RNF43_ENST00000581868.1_Frame_Shift_Ins_p.S419fs|RNF43_ENST00000500597.2_Frame_Shift_Ins_p.S505fs|RNF43_ENST00000577625.1_Frame_Shift_Ins_p.S419fs			Q68DV7	RNF43_HUMAN	ring finger protein 43	546					negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGGACATGGCTGGAAACCTGGG	0.624																																						ENST00000584437.1																			0				NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60						c.(1633-1638)tcgccafs		ring finger protein 43																																				SO:0001589	frameshift_variant	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56435501_56435502insG		CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.1636dupC	17.37:g.56435503_56435503dupG	ENSP00000463069:p.Ser546fs					RNF43_ENST00000583753.1_Frame_Shift_Ins_p.P505fs|RNF43_ENST00000577625.1_Frame_Shift_Ins_p.P419fs|RNF43_ENST00000407977.2_Frame_Shift_Ins_p.P546fs|RNF43_ENST00000500597.2_Frame_Shift_Ins_p.P505fs|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577716.1_Frame_Shift_Ins_p.P546fs|RNF43_ENST00000581868.1_Frame_Shift_Ins_p.P419fs	p.P546fs			Q68DV7	RNF43_HUMAN			8	3590_3591	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		546					A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Frame_Shift_Ins	INS	ENST00000584437.1	37	c.1635_1636insC	CCDS11607.1																																																																																				0.624	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		11	152						11	152	---	---	---	---
SIX5	147912	broad.mit.edu	37	19	46269225	46269226	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	64f1b3b9-24c9-4715-b6ce-834b3443d46f	g.chr19:46269225_46269226insG	ENST00000317578.6	-	3	2134_2135	c.1753_1754insC	c.(1753-1755)ctgfs	p.L585fs	AC074212.5_ENST00000592217.2_RNA|AC074212.5_ENST00000559756.1_RNA|AC074212.6_ENST00000590076.1_RNA|SIX5_ENST00000560168.1_3'UTR	NM_175875.4	NP_787071	Q8N196	SIX5_HUMAN	SIX homeobox 5	585					lens development in camera-type eye (GO:0002088)|negative regulation of cell proliferation (GO:0008285)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		CTTCAGTGGCAGGGCCAGGCCG	0.698																																						ENST00000317578.6																			0				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(1753-1755)gccfs		SIX homeobox 5				465,69,3574		11,0,443,0,69,1531						3.2	1.0			14	688,111,7243		14,0,660,4,103,3240	no	codingComplex	SIX5	NM_175875.4		25,0,1103,4,172,4771	A1A1,A1A2,A1R,A2A2,A2R,RR		9.9353,12.999,10.9712				1153,180,10817				SO:0001589	frameshift_variant	147912					cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:46269225_46269226insG	L08835	CCDS12673.1	19q13.32	2011-06-20	2007-07-13			ENSG00000177045		"""Homeoboxes / SINE class"""	10891	protein-coding gene	gene with protein product		600963	"""sine oculis homeobox (Drosophila) homolog 5"", ""sine oculis homeobox homolog 5 (Drosophila)"""	DMAHP		8595416	Standard	NM_175875		Approved		uc002pdb.3	Q8N196		ENST00000317578.6:c.1754dupC	19.37:g.46269228_46269228dupG	ENSP00000316842:p.Leu585fs					AC074212.5_ENST00000559756.1_RNA|SIX5_ENST00000560168.1_3'UTR	p.A585fs	NM_175875.4	NP_787071.2	Q8N196	SIX5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)	3	2134_2135	-		Ovarian(192;0.0308)|all_neural(266;0.112)	585						Frame_Shift_Ins	INS	ENST00000317578.6	37	c.1753_1754insC	CCDS12673.1																																																																																				0.698	SIX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417341.3	NM_175875		4	8						4	8	---	---	---	---
RSPH6A	81492	broad.mit.edu	37	19	46299147	46299149	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	64f1b3b9-24c9-4715-b6ce-834b3443d46f	g.chr19:46299147_46299149delCCT	ENST00000221538.3	-	6	2274_2276	c.2132_2134delAGG	c.(2131-2136)gagggc>ggc	p.E711del	RSPH6A_ENST00000600188.1_In_Frame_Del_p.E447del|RSPH6A_ENST00000597055.1_3'UTR	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	711	Glu-rich.					intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GTctcctcgccctcctcctcctc	0.557																																						ENST00000221538.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						c.(2131-2136)ggc>g		radial spoke head 6 homolog A (Chlamydomonas)																																				SO:0001651	inframe_deletion	81492					intracellular		g.chr19:46299147_46299149delCCT	AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"""radial spokehead-like 1"""	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.2132_2134delAGG	19.37:g.46299156_46299158delCCT	ENSP00000221538:p.Glu711del					RSPH6A_ENST00000597055.1_3'UTR|RSPH6A_ENST00000600188.1_In_Frame_Del_p.EG447del	p.EG711del	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN			6	2274_2276	-			711			Glu-rich.		Q53FE2|Q6PEZ9	In_Frame_Del	DEL	ENST00000221538.3	37	c.2132_2134delAGG	CCDS12675.1																																																																																				0.557	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1			7	186						7	186	---	---	---	---
