#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
ZNF567	163081	broad.mit.edu	37	19	37210852	37210852	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr19:37210852C>G	ENST00000536254.2	+	6	1448	c.1226C>G	c.(1225-1227)aCt>aGt	p.T409S	ZNF567_ENST00000392163.2_Missense_Mutation_p.T378S|ZNF567_ENST00000360729.4_Missense_Mutation_p.T378S|ZNF567_ENST00000585696.1_Missense_Mutation_p.T378S|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000588311.1_Missense_Mutation_p.T378S			Q8N184	ZN567_HUMAN	zinc finger protein 567	409					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GCAAATCTTACTGTACATCAG	0.413																																						ENST00000585696.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(1132-1134)aCt>aGt		zinc finger protein 567							58.0	62.0	61.0					19																	37210852		2203	4300	6503	SO:0001583	missense	163081				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37210852C>G	AK093034	CCDS12495.1, CCDS74349.1	19q13.12	2013-10-08				ENSG00000189042		"""Zinc fingers, C2H2-type"", ""-"""	28696	protein-coding gene	gene with protein product						12477932	Standard	XM_006723064		Approved	MGC45586	uc002oep.4	Q8N184		ENST00000536254.2:c.1226C>G	19.37:g.37210852C>G	ENSP00000441838:p.Thr409Ser					ZNF567_ENST00000536254.2_Missense_Mutation_p.T409S|ZNF567_ENST00000392163.2_Missense_Mutation_p.T378S|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000588311.1_Missense_Mutation_p.T378S|ZNF567_ENST00000360729.4_Missense_Mutation_p.T378S	p.T378S			Q8N184	ZN567_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		3	2363	+	Esophageal squamous(110;0.198)		409					B3KX49|Q6N044	Missense_Mutation	SNP	ENST00000536254.2	37	c.1133C>G		.	.	.	.	.	.	.	.	.	.	C	13.82	2.351393	0.41700	.	.	ENSG00000189042	ENST00000536254;ENST00000378686;ENST00000360729;ENST00000423498;ENST00000392163	T;T;T	0.35973	1.28;1.28;1.28	5.18	2.96	0.34315	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44483	D	0.000449	T	0.18551	0.0445	N	0.17594	0.5	0.22591	N	0.99896	B;B	0.10296	0.003;0.002	B;B	0.12156	0.007;0.004	T	0.09952	-1.0651	10	0.27785	T	0.31	.	5.3548	0.16055	0.1608:0.6658:0.0:0.1734	.	409;378	Q8N184;F8WEL6	ZN567_HUMAN;.	S	409;353;378;408;378	ENSP00000441838:T409S;ENSP00000353957:T378S;ENSP00000376003:T378S	ENSP00000353957:T378S	T	+	2	0	ZNF567	41902692	0.000000	0.05858	0.999000	0.59377	0.987000	0.75469	-1.558000	0.02164	1.387000	0.46486	0.561000	0.74099	ACT		0.413	ZNF567-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000453549.1	NM_152603		75	300	0	0	0	1	0	75	300				
DNAH8	1769	broad.mit.edu	37	6	38820472	38820472	+	Silent	SNP	G	G	A	rs61757626		TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr6:38820472G>A	ENST00000359357.3	+	38	5072	c.4818G>A	c.(4816-4818)ccG>ccA	p.P1606P	DNAH8_ENST00000441566.1_Silent_p.P1606P|DNAH8_ENST00000449981.2_Silent_p.P1823P			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1606					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCTTACAGCCGCATCTCCCTG	0.393																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(4816-4818)ccG>ccA		dynein, axonemal, heavy chain 8							90.0	87.0	88.0					6																	38820472		2203	4300	6503	SO:0001819	synonymous_variant	1769							g.chr6:38820472G>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.4818G>A	6.37:g.38820472G>A						DNAH8_ENST00000449981.2_Silent_p.P1823P|DNAH8_ENST00000441566.1_Silent_p.P1606P	p.P1606P							38	5072	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37	c.4818G>A																																																																																					0.393	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		4	203	0	0	0	1	0	4	203				
TPTE2P6	374491	broad.mit.edu	37	13	25168463	25168463	+	RNA	SNP	T	T	C	rs61946940	byFrequency	TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr13:25168463T>C	ENST00000453498.1	+	0	1135				TPTE2P6_ENST00000440905.1_RNA																							TGACAGTCCATCTCTGTACGA	0.363																																						ENST00000453498.1																			0																																																			0							g.chr13:25168463T>C																													13.37:g.25168463T>C														0	1135	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.363	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			6	277	0	0	0	1	0	6	277				
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs571530750	byFrequency	TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr6:26422353C>T	ENST00000466808.2	+	0	7							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622													C|||	7	0.00139776	0.0023	0.0	5008	,	,		16376	0.001		0.0	False		,,,				2504	0.0031					ENST00000466808.2																			2	Substitution - Missense(2)	p.P3S(2)	endometrium(1)|kidney(1)																																																0							g.chr6:26422353C>T	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422353C>T														0	7	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.622	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		4	103	0	0	0	1	0	4	103				
GRIN3B	116444	broad.mit.edu	37	19	1005484	1005484	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr19:1005484G>A	ENST00000234389.3	+	3	2003	c.1984G>A	c.(1984-1986)Gcc>Acc	p.A662T	AC004528.4_ENST00000588380.1_RNA	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	662					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CAGCTACACGGCCAACCTGGC	0.677																																						ENST00000234389.3																			0				breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(1984-1986)Gcc>Acc		glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)						46.0	46.0	46.0					19																	1005484		2203	4300	6503	SO:0001583	missense	116444				ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity	g.chr19:1005484G>A		CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.1984G>A	19.37:g.1005484G>A	ENSP00000234389:p.Ala662Thr						p.A662T	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	2003	+		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)	662					Q5EAK7|Q7RTW9	Missense_Mutation	SNP	ENST00000234389.3	37	c.1984G>A	CCDS32861.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.555006	0.86231	.	.	ENSG00000116032	ENST00000234389	T	0.74315	-0.83	4.36	4.36	0.52297	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	D	0.88647	0.6493	M	0.91768	3.24	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.91584	0.5281	10	0.87932	D	0	.	15.5149	0.75815	0.0:0.0:1.0:0.0	.	662	O60391	NMD3B_HUMAN	T	662	ENSP00000234389:A662T	ENSP00000234389:A662T	A	+	1	0	GRIN3B	956484	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	9.675000	0.98638	2.012000	0.59069	0.306000	0.20318	GCC		0.677	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2			4	154	0	0	0	1	0	4	154				
FMOD	2331	broad.mit.edu	37	1	203316552	203316552	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr1:203316552T>C	ENST00000354955.4	-	2	1310	c.847A>G	c.(847-849)Aat>Gat	p.N283D	FMOD_ENST00000493296.1_Intron	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	283					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor complex assembly (GO:0007181)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			GCCAGGCCATTGTTGGTTAGA	0.562																																						ENST00000354955.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17						c.(847-849)Aat>Gat		fibromodulin							147.0	141.0	143.0					1																	203316552		2203	4300	6503	SO:0001583	missense	2331				transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix		g.chr1:203316552T>C	U05291	CCDS30976.1	1q32	2008-02-05			ENSG00000122176	ENSG00000122176		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	3774	protein-coding gene	gene with protein product	"""fibromodulin proteoglycan"""	600245				7851907	Standard	NM_002023		Approved	SLRR2E	uc001gzr.3	Q06828	OTTHUMG00000035910	ENST00000354955.4:c.847A>G	1.37:g.203316552T>C	ENSP00000347041:p.Asn283Asp					FMOD_ENST00000464898.1_5'UTR	p.N283D	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.171)		2	1310	-			283					Q15331|Q8IV47	Missense_Mutation	SNP	ENST00000354955.4	37	c.847A>G	CCDS30976.1	.	.	.	.	.	.	.	.	.	.	T	7.945	0.743682	0.15642	.	.	ENSG00000122176	ENST00000435105;ENST00000354955	T	0.04317	3.65	5.18	0.217	0.15264	.	0.688390	0.15290	N	0.270224	T	0.01976	0.0062	N	0.05124	-0.11	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48399	-0.9039	10	0.15499	T	0.54	-12.1511	4.9449	0.13984	0.0:0.3254:0.3087:0.3659	.	283	Q06828	FMOD_HUMAN	D	270;283	ENSP00000347041:N283D	ENSP00000347041:N283D	N	-	1	0	FMOD	201583175	0.014000	0.17966	0.225000	0.23894	0.923000	0.55619	0.792000	0.26929	0.004000	0.14682	-0.290000	0.09829	AAT		0.562	FMOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087472.1	NM_002023		29	352	0	0	0	1	0	29	352				
VRK3	51231	broad.mit.edu	37	19	50519379	50519379	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr19:50519379G>A	ENST00000599538.1	-	3	705	c.41C>T	c.(40-42)gCg>gTg	p.A14V	VRK3_ENST00000377011.2_Missense_Mutation_p.A14V|VRK3_ENST00000424804.2_5'UTR|VRK3_ENST00000593919.1_Missense_Mutation_p.A14V|VRK3_ENST00000601341.1_Missense_Mutation_p.A14V|VRK3_ENST00000594092.1_Missense_Mutation_p.A14V|VRK3_ENST00000594948.1_Missense_Mutation_p.A14V|VRK3_ENST00000601912.1_Missense_Mutation_p.A14V|VRK3_ENST00000316763.3_Missense_Mutation_p.A14V|VRK3_ENST00000443401.2_5'UTR			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	14					negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		TTTGAATGCCGCTTGGATACT	0.468																																					Pancreas(6;90 181 4352 12603 17050 34726 35237 44094)	ENST00000599538.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23						c.(40-42)gCg>gTg		vaccinia related kinase 3							108.0	104.0	105.0					19																	50519379		2203	4300	6503	SO:0001583	missense	51231					nucleus	ATP binding|protein kinase activity	g.chr19:50519379G>A	AB031052	CCDS12791.1, CCDS33076.1	19q13.33	2011-01-14			ENSG00000105053	ENSG00000105053			18996	protein-coding gene	gene with protein product							Standard	XM_005258971		Approved		uc002prh.1	Q8IV63		ENST00000599538.1:c.41C>T	19.37:g.50519379G>A	ENSP00000469880:p.Ala14Val					VRK3_ENST00000377011.2_Missense_Mutation_p.A14V|VRK3_ENST00000593919.1_Missense_Mutation_p.A14V|VRK3_ENST00000601912.1_Missense_Mutation_p.A14V|VRK3_ENST00000601341.1_Missense_Mutation_p.A14V|VRK3_ENST00000316763.3_Missense_Mutation_p.A14V|VRK3_ENST00000424804.2_5'UTR|VRK3_ENST00000594092.1_Missense_Mutation_p.A14V|VRK3_ENST00000594948.1_Missense_Mutation_p.A14V|VRK3_ENST00000443401.2_5'UTR	p.A14V			Q8IV63	VRK3_HUMAN		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)	3	705	-		all_neural(266;0.0459)|Ovarian(192;0.0481)	14					A6NEG5|A8KA53|Q502Y2|Q9P2V8	Missense_Mutation	SNP	ENST00000599538.1	37	c.41C>T	CCDS12791.1	.	.	.	.	.	.	.	.	.	.	G	3.416	-0.119082	0.06838	.	.	ENSG00000105053	ENST00000316763;ENST00000377011;ENST00000424804	T;T	0.25912	1.77;1.79	4.52	2.36	0.29203	.	0.598744	0.17197	N	0.183287	T	0.14570	0.0352	L	0.52759	1.655	0.09310	N	1	P;B;B;B;B	0.38300	0.626;0.054;0.027;0.066;0.066	B;B;B;B;B	0.27170	0.077;0.011;0.02;0.019;0.019	T	0.13953	-1.0490	10	0.11485	T	0.65	-0.861	5.109	0.14800	0.1072:0.0:0.6879:0.2049	.	14;14;14;14;14	E7EMG6;Q8IV63-2;B4E0U5;A6NEG5;Q8IV63	.;.;.;.;VRK3_HUMAN	V	14	ENSP00000324636:A14V;ENSP00000366210:A14V	ENSP00000324636:A14V	A	-	2	0	VRK3	55211191	0.004000	0.15560	0.007000	0.13788	0.166000	0.22503	0.811000	0.27198	0.802000	0.34089	0.650000	0.86243	GCG		0.468	VRK3-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464815.1	NM_016440		6	310	0	0	0	1	0	6	310				
FRG1B	284802	broad.mit.edu	37	20	29628278	29628278	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr20:29628278G>A	ENST00000278882.3	+	6	660	c.280G>A	c.(280-282)Gca>Aca	p.A94T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A94T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A99T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	94										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGCAATGAAGCAGGGGACAT	0.373																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(280-282)Gca>Aca																																						SO:0001583	missense	0							g.chr20:29628278G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.280G>A	20.37:g.29628278G>A	ENSP00000278882:p.Ala94Thr					FRG1B_ENST00000439954.2_Missense_Mutation_p.A99T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A94T	p.A94T							6	660	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.280G>A		.	.	.	.	.	.	.	.	.	.	g	9.994	1.231660	0.22626	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.44083	0.93	2.08	2.08	0.27032	Actin cross-linking (1);	0.286587	0.39083	N	0.001478	T	0.22898	0.0553	.	.	.	0.21290	N	0.99973	B;B	0.12630	0.0;0.006	B;B	0.12156	0.002;0.007	T	0.15407	-1.0438	9	0.16420	T	0.52	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	99;94	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	T	94;99;94	ENSP00000408863:A99T	ENSP00000278882:A94T	A	+	1	0	FRG1B	28241939	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.196000	0.58407	1.475000	0.48197	0.423000	0.28283	GCA		0.373	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		11	527	0	0	0	1	0	11	527				
TPR	7175	broad.mit.edu	37	1	186313202	186313202	+	Silent	SNP	T	T	C			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr1:186313202T>C	ENST00000367478.4	-	26	3734	c.3438A>G	c.(3436-3438)gtA>gtG	p.V1146V		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1146					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CACAGCGACATACACATTTGG	0.403			T	NTRK1	papillary thyroid																																	ENST00000367478.3				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123						c.(3436-3438)gtA>gtG		translocated promoter region, nuclear basket protein							109.0	94.0	99.0					1																	186313202		1884	4122	6006	SO:0001819	synonymous_variant	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186313202T>C	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.3438A>G	1.37:g.186313202T>C							p.V1146V	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	26	3734	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	1146					Q15655|Q5SWY0|Q99968	Silent	SNP	ENST00000367478.4	37	c.3438A>G	CCDS41446.1																																																																																				0.403	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		5	153	0	0	0	1	0	5	153				
MAMLD1	10046	broad.mit.edu	37	X	149639635	149639635	+	Missense_Mutation	SNP	A	A	T			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chrX:149639635A>T	ENST00000370401.2	+	4	2100	c.1790A>T	c.(1789-1791)cAg>cTg	p.Q597L	MAMLD1_ENST00000455522.2_Missense_Mutation_p.Q78L|MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000426613.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000262858.5_Missense_Mutation_p.Q597L			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	597	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					TTgcagctgcagcagcagcag	0.607																																						ENST00000370401.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1789-1791)cAg>cTg		mastermind-like domain containing 1							67.0	59.0	62.0					X																	149639635		2203	4300	6503	SO:0001583	missense	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639635A>T	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1790A>T	X.37:g.149639635A>T	ENSP00000359428:p.Gln597Leu					MAMLD1_ENST00000426613.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000262858.5_Missense_Mutation_p.Q597L|MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000455522.2_Missense_Mutation_p.Q78L	p.Q597L			Q13495	MAMD1_HUMAN			4	2100	+	Acute lymphoblastic leukemia(192;6.56e-05)		597			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	ENST00000370401.2	37	c.1790A>T	CCDS14693.2	.	.	.	.	.	.	.	.	.	.	A	11.70	1.717048	0.30413	.	.	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000432680;ENST00000262858;ENST00000426613;ENST00000455522	T;T;T;T;T	0.68181	0.18;-0.31;0.18;0.17;0.83	3.95	-2.22	0.06952	.	0.914301	0.09376	N	0.810639	T	0.65565	0.2703	L	0.44542	1.39	0.26213	N	0.979273	P;P;P;P	0.51351	0.835;0.835;0.944;0.835	P;P;P;P	0.49999	0.529;0.529;0.628;0.529	T	0.63198	-0.6691	10	0.66056	D	0.02	-0.2357	12.9577	0.58441	0.4497:0.5503:0.0:0.0	.	469;572;572;597	F6WVG1;Q13495-4;Q13495-3;Q13495	.;.;.;MAMD1_HUMAN	L	469;597;572;597;572;78	ENSP00000359428:Q597L;ENSP00000414517:Q572L;ENSP00000262858:Q597L;ENSP00000397438:Q572L;ENSP00000389106:Q78L	ENSP00000262858:Q597L	Q	+	2	0	MAMLD1	149390293	0.130000	0.22417	0.006000	0.13384	0.394000	0.30568	0.878000	0.28126	-0.614000	0.05687	-0.496000	0.04628	CAG		0.607	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		5	405	0	0	0	1	0	5	405				
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473333	22473333	+	RNA	SNP	A	A	G	rs188158697		TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr15:22473333A>G	ENST00000557788.2	-	0	20							A6NJ16	IV4F8_HUMAN	immunoglobulin heavy variable 4/OR15-8 (non-functional)							extracellular region (GO:0005576)											CCAGGAGGAGAAAGAACCACA	0.512																																						ENST00000557788.2																			0																																																			0							g.chr15:22473333A>G	Z29598		15q11.2	2012-02-20	2008-09-15		ENSG00000259261	ENSG00000259261		"""Immunoglobulins / IGH orphons"""	5658	other	immunoglobulin gene			"""immunoglobulin heavy variable 4/OR15-8"", ""V-set and immunoglobulin domain containing 6"""	VSIG6		7951227	Standard			Approved	IGHV4/OR15-8, IGHV4OR158		A6NJ16	OTTHUMG00000171934		15.37:g.22473333A>G														0	20	-									RNA	SNP	ENST00000557788.2	37																																																																																						0.512	IGHV4OR15-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000415968.2			8	559	0	0	0	1	0	8	559				
FLNA	2316	broad.mit.edu	37	X	153594439	153594439	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chrX:153594439G>A	ENST00000369850.3	-	9	1618	c.1382C>T	c.(1381-1383)gCc>gTc	p.A461V	FLNA_ENST00000360319.4_Missense_Mutation_p.A461V|FLNA_ENST00000344736.4_Missense_Mutation_p.A461V|FLNA_ENST00000422373.1_Missense_Mutation_p.A461V	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	461					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGGCACGCCGGCAAACGTGAC	0.677																																						ENST00000422373.1																			0				breast(6)	6						c.(1381-1383)gCc>gTc		filamin A, alpha							47.0	55.0	52.0					X																	153594439		2155	4227	6382	SO:0001583	missense	0				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153594439G>A	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.1382C>T	X.37:g.153594439G>A	ENSP00000358866:p.Ala461Val					FLNA_ENST00000360319.4_Missense_Mutation_p.A461V|FLNA_ENST00000344736.4_Missense_Mutation_p.A461V|FLNA_ENST00000369850.3_Missense_Mutation_p.A461V	p.A461V	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			9	1630	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		461					E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.1382C>T	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	G	7.166	0.586624	0.13749	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96	4.96	4.06	0.47325	Immunoglobulin E-set (2);Immunoglobulin-like fold (1);	0.069730	0.53938	D	0.000041	D	0.89312	0.6679	M	0.93328	3.405	0.80722	D	1	B;B	0.29270	0.24;0.119	B;B	0.34452	0.087;0.183	D	0.88074	0.2802	10	0.87932	D	0	.	12.2745	0.54726	0.0:0.3195:0.6805:0.0	.	461;461	P21333-2;P21333	.;FLNA_HUMAN	V	461;434;461;461;461	ENSP00000353467:A461V;ENSP00000416926:A461V;ENSP00000358866:A461V;ENSP00000358863:A461V	ENSP00000358863:A461V	A	-	2	0	FLNA	153247633	1.000000	0.71417	0.028000	0.17463	0.073000	0.16967	4.756000	0.62205	0.815000	0.34398	0.540000	0.68198	GCC		0.677	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			4	260	0	0	0	1	0	4	260				
TBX2	6909	broad.mit.edu	37	17	59479173	59479173	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr17:59479173C>T	ENST00000240328.3	+	2	805	c.524C>T	c.(523-525)gCg>gTg	p.A175V	RP11-332H18.4_ENST00000592009.1_RNA|RP11-332H18.5_ENST00000585765.1_RNA|RP11-332H18.4_ENST00000591313.1_RNA|RP11-332H18.4_ENST00000590421.1_RNA|RP11-332H18.4_ENST00000589814.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	175				AGKA -> TDKT (in Ref. 4; AAB36216). {ECO:0000305}.	aorta morphogenesis (GO:0035909)|atrioventricular canal development (GO:0036302)|cardiac muscle tissue development (GO:0048738)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|developmental growth involved in morphogenesis (GO:0060560)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|endocardial cushion morphogenesis (GO:0003203)|mammary placode formation (GO:0060596)|muscle cell fate determination (GO:0007521)|negative regulation of cardiac chamber formation (GO:1901211)|negative regulation of heart looping (GO:1901208)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|palate development (GO:0060021)|pharynx development (GO:0060465)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(7)|ovary(1)	9						TGGATGGTGGCGGGCAAGGCC	0.592																																					GBM(3;187 253 11467 14965 23079)	ENST00000240328.3																			0				endometrium(1)|lung(7)|ovary(1)	9						c.(523-525)gCg>gTg		T-box 2							79.0	66.0	70.0					17																	59479173		2203	4300	6503	SO:0001583	missense	6909				cell aging|positive regulation of cell proliferation		sequence-specific DNA binding	g.chr17:59479173C>T	AB209378	CCDS11627.2	17q23.2	2012-01-23			ENSG00000121068	ENSG00000121068		"""T-boxes"""	11597	protein-coding gene	gene with protein product		600747				8530034	Standard	NM_005994		Approved		uc010wox.2	Q13207	OTTHUMG00000156986	ENST00000240328.3:c.524C>T	17.37:g.59479173C>T	ENSP00000240328:p.Ala175Val					RP11-332H18.4_ENST00000592009.1_RNA	p.A175V	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN			2	805	+			175	AGKA -> TDKT (in Ref. 4; AAB36216).				Q16424|Q7Z647	Missense_Mutation	SNP	ENST00000240328.3	37	c.524C>T	CCDS11627.2	.	.	.	.	.	.	.	.	.	.	C	36	5.632560	0.96682	.	.	ENSG00000121068	ENST00000240328;ENST00000424871	D	0.89681	-2.55	4.81	4.81	0.61882	p53-like transcription factor, DNA-binding (1);	0.107611	0.64402	D	0.000006	D	0.94706	0.8292	M	0.89478	3.035	0.80722	D	1	D;D	0.89917	0.994;1.0	P;P	0.61874	0.639;0.895	D	0.95646	0.8702	10	0.87932	D	0	.	17.0401	0.86487	0.0:1.0:0.0:0.0	.	175;112	Q13207;Q59FT1	TBX2_HUMAN;.	V	175;150	ENSP00000240328:A175V	ENSP00000240328:A175V	A	+	2	0	TBX2	56833955	1.000000	0.71417	0.970000	0.41538	0.995000	0.86356	7.616000	0.83018	2.494000	0.84150	0.561000	0.74099	GCG		0.592	TBX2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346977.2	NM_005994		5	305	0	0	0	1	0	5	305				
TPTE2P6	374491	broad.mit.edu	37	13	25161397	25161397	+	RNA	SNP	C	C	G	rs3874227	byFrequency	TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr13:25161397C>G	ENST00000453498.1	+	0	921				TPTE2P6_ENST00000440905.1_RNA																							TGAAACATCTCTACAACTGGA	0.343																																						ENST00000453498.1																			0																																																			0							g.chr13:25161397C>G																													13.37:g.25161397C>G														0	921	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.343	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			5	400	0	0	0	1	0	5	400				
SPATA31A6	389730	broad.mit.edu	37	9	43627785	43627785	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr9:43627785G>T	ENST00000332857.6	-	4	930	c.902C>A	c.(901-903)cCt>cAt	p.P301H	SPATA31A6_ENST00000496386.1_5'UTR	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	301					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GCGGGAAAGAGGATCTTGCTG	0.547																																						ENST00000332857.6																			0											c.(901-903)cCt>cAt		SPATA31 subfamily A, member 6							3.0	3.0	3.0					9																	43627785		555	1419	1974	SO:0001583	missense	389730							g.chr9:43627785G>T		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.902C>A	9.37:g.43627785G>T	ENSP00000329825:p.Pro301His					SPATA31A6_ENST00000496386.1_5'UTR	p.P301H	NM_001145196.1	NP_001138668.1					4	930	-									Missense_Mutation	SNP	ENST00000332857.6	37	c.902C>A	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	T	0.006	-2.100181	0.00360	.	.	ENSG00000185775	ENST00000332857	T	0.03272	3.99	1.85	1.85	0.25348	.	1.257310	0.05490	N	0.556480	T	0.01353	0.0044	N	0.00801	-1.175	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46345	-0.9198	10	0.14252	T	0.57	-0.9104	4.8878	0.13712	0.0:0.0:0.323:0.677	.	301	Q5VVP1	F75A6_HUMAN	H	301	ENSP00000329825:P301H	ENSP00000329825:P301H	P	-	2	0	FAM75A6	43567781	0.001000	0.12720	0.001000	0.08648	0.006000	0.05464	-0.173000	0.09854	0.179000	0.19938	-0.930000	0.02707	CCT		0.547	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		11	1928	1	0	0.014758	1	0.0151413	11	1928				
RP11-156P1.3	0	broad.mit.edu	37	17	45128812	45128812	+	RNA	SNP	C	C	T			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr17:45128812C>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AGTCCTGTTTCTGTGTGGATT	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128812C>T																													17.37:g.45128812C>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			7	292	0	0	0	1	0	7	292				
MAML3	55534	broad.mit.edu	37	4	140811108	140811108	+	Silent	SNP	C	C	T			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr4:140811108C>T	ENST00000509479.2	-	2	2338	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	MAML3_ENST00000398940.1_Silent_p.Q33Q|MAML3_ENST00000327122.5_Silent_p.Q338Q	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.537																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1480-1482)caG>caA		mastermind-like 3 (Drosophila)							14.0	19.0	17.0					4																	140811108		2165	4272	6437	SO:0001819	synonymous_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811108C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1482G>A	4.37:g.140811108C>T						MAML3_ENST00000327122.5_Silent_p.Q338Q|MAML3_ENST00000398940.1_Silent_p.Q33Q	p.Q494Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2338	-	all_hematologic(180;0.162)		494			Gln-rich.			Silent	SNP	ENST00000509479.2	37	c.1482G>A	CCDS54805.1																																																																																				0.537	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			4	152	0	0	0	1	0	4	152				
CROCCP2	84809	broad.mit.edu	37	1	16946434	16946434	+	lincRNA	SNP	C	C	T	rs367060	byFrequency	TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr1:16946434C>T	ENST00000412962.1	-	0	1085				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CTCAGCCTTCCGCCGGGCCAG	0.672													.|||	253	0.0505192	0.115	0.0533	5008	,	,		65734	0.0119		0.0437	False		,,,				2504	0.0082					ENST00000412962.1																			0																																																			0							g.chr1:16946434C>T	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946434C>T														0	1085	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		8	57	0	0	0	1	0	8	57				
HMCN1	83872	broad.mit.edu	37	1	186114603	186114603	+	Missense_Mutation	SNP	C	C	T	rs144825762	byFrequency	TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr1:186114603C>T	ENST00000271588.4	+	92	14564	c.14335C>T	c.(14335-14337)Cgg>Tgg	p.R4779W	HMCN1_ENST00000367492.2_Missense_Mutation_p.R4779W	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4779	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGGGCAGATGCGGCGGTACCG	0.557													C|||	2	0.000399361	0.0	0.0	5008	,	,		14704	0.0		0.001	False		,,,				2504	0.001					ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(14335-14337)Cgg>Tgg		hemicentin 1		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	98.0	89.0	92.0		14335	3.3	1.0	1	dbSNP_134	92	0,8600		0,0,4300	no	missense	HMCN1	NM_031935.2	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	4779/5636	186114603	1,13005	2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186114603C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.14335C>T	1.37:g.186114603C>T	ENSP00000271588:p.Arg4779Trp					HMCN1_ENST00000367492.2_Missense_Mutation_p.R4779W	p.R4779W	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			92	14564	+			4779			TSP type-1 5.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.14335C>T	CCDS30956.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	20.5	3.993825	0.74703	2.27E-4	0.0	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.53206	0.63;0.63	5.44	3.3	0.37823	.	0.000000	0.85682	D	0.000000	T	0.56232	0.1971	L	0.33624	1.015	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	T	0.60188	-0.7312	10	0.72032	D	0.01	.	12.9986	0.58662	0.4644:0.5356:0.0:0.0	.	4779	Q96RW7	HMCN1_HUMAN	W	4779	ENSP00000271588:R4779W;ENSP00000356462:R4779W	ENSP00000271588:R4779W	R	+	1	2	HMCN1	184381226	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	1.275000	0.33144	1.232000	0.43678	0.655000	0.94253	CGG		0.557	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		4	176	0	0	0	1	0	4	176				
ANKRD36	375248	broad.mit.edu	37	2	97869979	97869979	+	Missense_Mutation	SNP	G	G	T	rs111515821		TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr2:97869979G>T	ENST00000461153.2	+	50	3284	c.3040G>T	c.(3040-3042)Gat>Tat	p.D1014Y	ANKRD36_ENST00000420699.2_Missense_Mutation_p.D1014Y			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	1014								p.D1014Y(5)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						AGGAAAAAAGGATGGAGAAAA	0.328																																						ENST00000420699.2																			5	Substitution - Missense(5)	p.D1014Y(5)	endometrium(2)|skin(2)|kidney(1)	endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(3040-3042)Gat>Tat		ankyrin repeat domain 36							29.0	35.0	33.0					2																	97869979		692	1589	2281	SO:0001583	missense	375248							g.chr2:97869979G>T	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.3040G>T	2.37:g.97869979G>T	ENSP00000419530:p.Asp1014Tyr					ANKRD36_ENST00000461153.2_Missense_Mutation_p.D1014Y	p.D1014Y	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN			50	3284	+			1014					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	ENST00000461153.2	37	c.3040G>T	CCDS54379.1	.	.	.	.	.	.	.	.	.	.	.	2.724	-0.265945	0.05754	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000461694	T;T	0.76578	-1.03;-1.03	0.63	0.63	0.17693	.	.	.	.	.	T	0.79287	0.4420	L	0.38175	1.15	0.09310	N	1	D	0.71674	0.998	D	0.69654	0.965	T	0.66440	-0.5923	8	0.52906	T	0.07	.	.	.	.	.	1014	A6QL64	AN36A_HUMAN	Y	1014;1014;376	ENSP00000419530:D1014Y;ENSP00000391950:D1014Y	ENSP00000391950:D1014Y	D	+	1	0	ANKRD36	97233706	0.010000	0.17322	0.018000	0.16275	0.005000	0.04900	0.408000	0.21065	0.612000	0.30071	0.175000	0.17021	GAT		0.328	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			5	87	1	0	0.000602214	1	0.000642905	5	87				
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr17:45128792G>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AATTCAGGTTGTCAGAATGCA	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128792G>T																													17.37:g.45128792G>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			12	383	1	0	0.000151284	1	0.000163719	12	383				
SMARCA2	6595	broad.mit.edu	37	9	2039815	2039815	+	Silent	SNP	G	G	A	rs574062756	byFrequency	TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr9:2039815G>A	ENST00000382203.1	+	4	914	c.705G>A	c.(703-705)caG>caA	p.Q235Q	RP11-264I13.2_ENST00000426860.1_RNA|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000357248.2_Silent_p.Q235Q|SMARCA2_ENST00000349721.2_Silent_p.Q235Q|SMARCA2_ENST00000382194.1_Silent_p.Q235Q			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	235	Poly-Gln.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		agcagcagcagcaacagcagc	0.587													G|||	41	0.0081869	0.0151	0.0029	5008	,	,		10366	0.0089		0.0	False		,,,				2504	0.0102					ENST00000382203.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(703-705)caG>caA		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2							10.0	13.0	12.0					9																	2039815		2161	4205	6366	SO:0001819	synonymous_variant	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2039815G>A	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.705G>A	9.37:g.2039815G>A						SMARCA2_ENST00000349721.2_Silent_p.Q235Q|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000357248.2_Silent_p.Q235Q|SMARCA2_ENST00000382194.1_Silent_p.Q235Q	p.Q235Q			P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	4	914	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	235			Poly-Gln.		B1ALG3|B1ALG4|D3DRH4|D3DRH5	Silent	SNP	ENST00000382203.1	37	c.705G>A	CCDS34977.1																																																																																				0.587	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		5	116	0	0	0	1	0	5	116				
LGI3	203190	broad.mit.edu	37	8	22012962	22012962	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr8:22012962G>A	ENST00000306317.2	-	2	510	c.221C>T	c.(220-222)gCc>gTc	p.A74V	LGI3_ENST00000424267.2_Missense_Mutation_p.A74V	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	74					exocytosis (GO:0006887)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|extracellular region (GO:0005576)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)	catalytic activity (GO:0003824)			endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		TGAGAAGGCGGCATTCACCAG	0.597																																						ENST00000306317.2																			0				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17						c.(220-222)gCc>gTc		leucine-rich repeat LGI family, member 3							132.0	129.0	130.0					8																	22012962		2203	4300	6503	SO:0001583	missense	203190				exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome		g.chr8:22012962G>A	AJ487518	CCDS6025.1	8p21.2	2008-07-28			ENSG00000168481	ENSG00000168481			18711	protein-coding gene	gene with protein product		608302				12023020, 18628660	Standard	NM_139278		Approved		uc003xav.3	Q8N145	OTTHUMG00000131599	ENST00000306317.2:c.221C>T	8.37:g.22012962G>A	ENSP00000302297:p.Ala74Val					LGI3_ENST00000424267.2_Missense_Mutation_p.A74V	p.A74V	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN		Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)	2	510	-			74					A5PLP2|Q86TL4|Q8N296	Missense_Mutation	SNP	ENST00000306317.2	37	c.221C>T	CCDS6025.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.786021	0.49997	.	.	ENSG00000168481	ENST00000306317;ENST00000424267;ENST00000517694	T;D;D	0.90004	0.41;-2.59;-2.6	5.14	5.14	0.70334	.	0.059978	0.64402	D	0.000004	T	0.79161	0.4399	N	0.11560	0.145	0.41325	D	0.987208	B;B	0.24920	0.114;0.003	B;B	0.21917	0.037;0.005	T	0.76192	-0.3049	10	0.39692	T	0.17	-12.8419	14.4684	0.67499	0.0:0.0:1.0:0.0	.	74;74	A5PLP2;Q8N145	.;LGI3_HUMAN	V	74;74;35	ENSP00000302297:A74V;ENSP00000399121:A74V;ENSP00000427817:A35V	ENSP00000302297:A74V	A	-	2	0	LGI3	22068907	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	5.476000	0.66793	2.541000	0.85698	0.650000	0.86243	GCC		0.597	LGI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254482.1			5	255	0	0	0	1	0	5	255				
CAMTA1	23261	broad.mit.edu	37	1	7725038	7725038	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr1:7725038C>T	ENST00000303635.7	+	9	2638	c.2431C>T	c.(2431-2433)Cgg>Tgg	p.R811W	CAMTA1_ENST00000439411.2_Missense_Mutation_p.R811W	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	811					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GGACGGGGCGCGGGCCCCCTT	0.687			T	WWTR1	epitheliod hemangioendothelioma																																	ENST00000303635.7				Dom	yes		1	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1			M	WWTR1		epitheliod hemangioendothelioma		0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85						c.(2431-2433)Cgg>Tgg		calmodulin binding transcription activator 1							67.0	83.0	78.0					1																	7725038		2203	4297	6500	SO:0001583	missense	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7725038C>T	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.2431C>T	1.37:g.7725038C>T	ENSP00000306522:p.Arg811Trp					CAMTA1_ENST00000439411.2_Missense_Mutation_p.R811W	p.R811W	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	9	2638	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	811					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	c.2431C>T	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	c	11.19	1.566650	0.28003	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.23147	1.92;1.92	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.41511	0.1162	L	0.47716	1.5	0.32683	N	0.515231	D	0.89917	1.0	D	0.79784	0.993	T	0.52697	-0.8541	10	0.62326	D	0.03	-16.616	10.6616	0.45706	0.1539:0.714:0.1321:0.0	.	811	Q9Y6Y1	CMTA1_HUMAN	W	811	ENSP00000306522:R811W;ENSP00000402561:R811W	ENSP00000306522:R811W	R	+	1	2	CAMTA1	7647625	0.998000	0.40836	0.328000	0.25416	0.395000	0.30598	3.293000	0.51779	2.406000	0.81754	0.478000	0.44815	CGG		0.687	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		6	457	0	0	0	1	0	6	457				
CRISP2	7180	broad.mit.edu	37	6	49667525	49667525	+	Missense_Mutation	SNP	C	C	T	rs532707585		TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr6:49667525C>T	ENST00000339139.4	-	6	499	c.263G>A	c.(262-264)cGc>cAc	p.R88H		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	88	SCP.			R -> C (in Ref. 5; BAD97057). {ECO:0000305}.	single organismal cell-cell adhesion (GO:0016337)	extracellular space (GO:0005615)				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			actggttttgcggtcctctgG	0.338													C|||	1	0.000199681	0.0	0.0	5008	,	,		15026	0.0		0.0	False		,,,				2504	0.001					ENST00000339139.4																			0				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19						c.(262-264)cGc>cAc		cysteine-rich secretory protein 2							128.0	108.0	115.0					6																	49667525		2202	4300	6502	SO:0001583	missense	7180					extracellular space		g.chr6:49667525C>T	X95239	CCDS4928.1	6p12.3	2009-03-12	2003-09-03	2003-09-05	ENSG00000124490	ENSG00000124490			12024	protein-coding gene	gene with protein product	"""cancer/testis antigen 36"""	187430	"""testis specific protein 1 (probe H4-1 p3-1)"""	GAPDL5, TPX1		2613236, 8665901	Standard	NM_003296		Approved	CRISP-2, CT36	uc003ozo.3	P16562	OTTHUMG00000014822	ENST00000339139.4:c.263G>A	6.37:g.49667525C>T	ENSP00000339155:p.Arg88His						p.R88H	NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)		6	499	-	Lung NSC(77;0.0161)		88					A8K8M0|Q53FF2|Q5U8Z9|Q7Z7B2	Missense_Mutation	SNP	ENST00000339139.4	37	c.263G>A	CCDS4928.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.831906	0.50845	.	.	ENSG00000124490	ENST00000339139;ENST00000211238	T	0.08370	3.1	5.02	4.15	0.48705	CAP domain (3);	0.000000	0.85682	D	0.000000	T	0.19087	0.0458	M	0.90650	3.135	0.24684	N	0.993341	D;D	0.89917	1.0;1.0	D;D	0.97110	0.989;1.0	T	0.11792	-1.0573	10	0.37606	T	0.19	.	9.7734	0.40603	0.0:0.906:0.0:0.094	.	88;88	Q7Z7B2;P16562	.;CRIS2_HUMAN	H	88	ENSP00000339155:R88H	ENSP00000211238:R88H	R	-	2	0	CRISP2	49775484	0.493000	0.26035	0.479000	0.27329	0.429000	0.31625	2.574000	0.46016	1.478000	0.48253	0.650000	0.86243	CGC		0.338	CRISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040870.2	NM_003296		5	228	0	0	0	1	0	5	228				
F12	2161	broad.mit.edu	37	5	176829597	176829597	+	Missense_Mutation	SNP	C	C	T	rs17876034		TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr5:176829597C>T	ENST00000253496.3	-	13	1682	c.1634G>A	c.(1633-1635)gGc>gAc	p.G545D	F12_ENST00000514943.1_5'Flank|PFN3_ENST00000358571.2_5'Flank	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	545	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		G -> D (in dbSNP:rs17876034). {ECO:0000269|Ref.2}.		blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|plasma kallikrein-kinin cascade (GO:0002353)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibrinolysis (GO:0051919)|positive regulation of plasminogen activation (GO:0010756)|protein autoprocessing (GO:0016540)|protein processing (GO:0016485)|response to misfolded protein (GO:0051788)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	misfolded protein binding (GO:0051787)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Ethanolamine Oleate(DB06689)	GCAGAGCATGCCGGGGAGGAT	0.672									Hereditary Angioedema																													ENST00000253496.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12						c.(1633-1635)gGc>gAc		coagulation factor XII (Hageman factor)		C	ASP/GLY	1,4405	2.1+/-5.4	0,1,2202	36.0	36.0	36.0		1634	3.6	0.7	5	dbSNP_124	36	0,8600		0,0,4300	no	missense	F12	NM_000505.3	94	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	545/616	176829597	1,13005	2203	4300	6503	SO:0001583	missense	2161	Hereditary Angioedema	Familial Cancer Database	HAE, type I-III, Hereditary Angioneurotic Edema, HANE,	Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr5:176829597C>T	M31315	CCDS34302.1	5q35.3	2014-09-17			ENSG00000131187	ENSG00000131187	3.4.21.38		3530	protein-coding gene	gene with protein product		610619					Standard	NM_000505		Approved		uc003mgo.4	P00748	OTTHUMG00000163403	ENST00000253496.3:c.1634G>A	5.37:g.176829597C>T	ENSP00000253496:p.Gly545Asp						p.G545D	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		13	1682	-	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	545		G -> D (in dbSNP:rs17876034).	Peptidase S1.		P78339	Missense_Mutation	SNP	ENST00000253496.3	37	c.1634G>A	CCDS34302.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.333662	0.41297	2.27E-4	0.0	ENSG00000131187	ENST00000253496	T	0.59083	0.29	5.65	3.64	0.41730	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.159525	0.29745	N	0.011311	T	0.40522	0.1120	N	0.25245	0.725	0.25749	N	0.985076	P	0.43633	0.813	B	0.40134	0.32	T	0.20371	-1.0277	10	0.29301	T	0.29	.	10.1343	0.42697	0.0:0.7895:0.0:0.2105	rs17876034	545	P00748	FA12_HUMAN	D	545	ENSP00000253496:G545D	ENSP00000253496:G545D	G	-	2	0	F12	176762203	0.000000	0.05858	0.670000	0.29842	0.930000	0.56654	0.218000	0.17622	1.399000	0.46721	0.561000	0.74099	GGC		0.672	F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373217.1			4	167	0	0	0	1	0	4	167				
AMOT	154796	broad.mit.edu	37	X	112058796	112058796	+	Silent	SNP	C	C	T			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chrX:112058796C>T	ENST00000524145.1	-	3	1256	c.1182G>A	c.(1180-1182)caG>caA	p.Q394Q	AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000371958.1_Silent_p.Q162Q|AMOT_ENST00000371959.3_Silent_p.Q394Q|AMOT_ENST00000371962.1_Silent_p.Q162Q			Q4VCS5	AMOT_HUMAN	angiomotin	394					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)	p.Q394Q(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						gctgctgctgctgttgttggt	0.582																																						ENST00000371959.3																			1	Substitution - coding silent(1)	p.Q394Q(1)	lung(1)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1180-1182)caG>caA		angiomotin							38.0	34.0	36.0					X																	112058796		2203	4300	6503	SO:0001819	synonymous_variant	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112058796C>T	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1182G>A	X.37:g.112058796C>T						AMOT_ENST00000524145.1_Silent_p.Q394Q|AMOT_ENST00000371958.1_Silent_p.Q162Q|AMOT_ENST00000371962.1_Silent_p.Q162Q|AMOT_ENST00000304758.1_5'UTR	p.Q394Q	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN			2	1181	-			394					Q504X5|Q9HD27|Q9UPT1	Silent	SNP	ENST00000524145.1	37	c.1182G>A	CCDS48154.1																																																																																				0.582	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		4	182	0	0	0	1	0	4	182				
TPTE2P6	374491	broad.mit.edu	37	13	25168432	25168432	+	RNA	SNP	T	T	C	rs201252723	byFrequency	TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr13:25168432T>C	ENST00000453498.1	+	0	1104				TPTE2P6_ENST00000440905.1_RNA																							TTGAAACAGCTGGTGTATTAA	0.373																																						ENST00000453498.1																			0																																																			0							g.chr13:25168432T>C																													13.37:g.25168432T>C														0	1104	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.373	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			4	220	0	0	0	1	0	4	220				
ZFP82	284406	broad.mit.edu	37	19	36884345	36884345	+	Silent	SNP	C	C	T			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr19:36884345C>T	ENST00000392161.3	-	5	1139	c.897G>A	c.(895-897)cgG>cgA	p.R299R	ZFP82_ENST00000392171.1_Silent_p.R299R	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	299					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GCTTCTGATGCCGAGTCAGGT	0.443																																						ENST00000392161.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(895-897)cgG>cgA		ZFP82 zinc finger protein							149.0	145.0	146.0					19																	36884345		2203	4300	6503	SO:0001819	synonymous_variant	284406				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36884345C>T	AL834267	CCDS12493.1	19q13.13	2013-01-08	2012-11-27	2008-07-01		ENSG00000181007		"""Zinc fingers, C2H2-type"", ""-"""	28682	protein-coding gene	gene with protein product			"""zinc finger protein 545"", ""zinc finger protein 82 homolog (mouse)"", ""zinc finger protein 82"""	ZNF545		11853319	Standard	NM_133466		Approved	MGC45380, KIAA1948	uc002ody.1	Q8N141		ENST00000392161.3:c.897G>A	19.37:g.36884345C>T						ZFP82_ENST00000392171.1_Silent_p.R299R	p.R299R	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN			5	1139	-			299					Q8NC63|Q8TF53	Silent	SNP	ENST00000392161.3	37	c.897G>A	CCDS12493.1																																																																																				0.443	ZFP82-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109552.2	NM_133466		6	605	0	0	0	1	0	6	605				
AIM1L	55057	broad.mit.edu	37	1	26650774	26650774	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr1:26650774C>A	ENST00000308182.5	-	17	1900	c.1471G>T	c.(1471-1473)Gca>Tca	p.A491S	AIM1L_ENST00000527815.1_Missense_Mutation_p.A662S			Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	491	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.						carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		CCCAGTGCTGCATTCCAGAGG	0.632																																						ENST00000527815.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12						c.(1984-1986)Gca>Tca		absent in melanoma 1-like							41.0	39.0	40.0					1																	26650774		2203	4300	6503	SO:0001583	missense	55057						sugar binding	g.chr1:26650774C>A			1p35	2010-07-14			ENSG00000176092	ENSG00000176092			17295	protein-coding gene	gene with protein product	"""beta-gamma crystallin domain containing 2"""						Standard	NM_001039775		Approved	CRYBG2, FLJ38020	uc001bmd.4	Q8N1P7	OTTHUMG00000003490	ENST00000308182.5:c.1471G>T	1.37:g.26650774C>A	ENSP00000310435:p.Ala491Ser					AIM1L_ENST00000308182.5_Missense_Mutation_p.A491S	p.A662S	NM_001039775.3	NP_001034864.2	Q8N1P7	AIM1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)	17	2033	-		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	491					B2RNG3|Q5T137|Q5T150	Missense_Mutation	SNP	ENST00000308182.5	37	c.1984G>T		.	.	.	.	.	.	.	.	.	.	C	13.36	2.212984	0.39102	.	.	ENSG00000176092	ENST00000527815;ENST00000308182	T;T	0.43688	0.94;0.94	5.31	1.86	0.25419	Ricin B-related lectin (1);Ricin B lectin (1);	1.217100	0.05399	N	0.540450	T	0.30448	0.0765	L	0.29908	0.895	0.22280	N	0.999232	B	0.12630	0.006	B	0.08055	0.003	T	0.30851	-0.9964	10	0.66056	D	0.02	.	3.327	0.07071	0.1356:0.5251:0.1333:0.206	.	491	Q8N1P7	AIM1L_HUMAN	S	662;491	ENSP00000433931:A662S;ENSP00000310435:A491S	ENSP00000310435:A491S	A	-	1	0	AIM1L	26523361	0.353000	0.24904	0.572000	0.28498	0.999000	0.98932	0.785000	0.26830	0.605000	0.29947	0.650000	0.86243	GCA		0.632	AIM1L-201	KNOWN	basic	protein_coding	protein_coding		NM_001039775.2		4	80	1	0	2.56e-06	1	2.80889e-06	4	80				
ERICH3	127254	broad.mit.edu	37	1	75037940	75037940	+	Missense_Mutation	SNP	T	T	A			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr1:75037940T>A	ENST00000326665.5	-	14	3672	c.3454A>T	c.(3454-3456)Aca>Tca	p.T1152S	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1152	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GGAACCACTGTCTCTTTTAGT	0.468																																						ENST00000326665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(3454-3456)Aca>Tca		chromosome 1 open reading frame 173							67.0	71.0	70.0					1																	75037940		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75037940T>A																												ENST00000326665.5:c.3454A>T	1.37:g.75037940T>A	ENSP00000322609:p.Thr1152Ser					C1orf173_ENST00000433746.2_5'UTR	p.T1152S	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			14	3672	-			1152			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.3454A>T	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	T	11.39	1.625736	0.28889	.	.	ENSG00000178965	ENST00000326665	T	0.11712	2.75	4.83	-0.42	0.12336	.	.	.	.	.	T	0.01523	0.0049	N	0.22421	0.69	0.09310	N	1	B	0.21452	0.056	B	0.20955	0.032	T	0.48801	-0.9003	9	0.12766	T	0.61	-0.5703	5.6261	0.17482	0.0:0.3122:0.1374:0.5504	.	1152	Q5RHP9	CA173_HUMAN	S	1152	ENSP00000322609:T1152S	ENSP00000322609:T1152S	T	-	1	0	C1orf173	74810528	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.356000	0.20181	-0.357000	0.08175	0.459000	0.35465	ACA		0.468	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			114	197	0	0	0	1	0	114	197				
TMEM181	57583	broad.mit.edu	37	6	159050843	159050843	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr6:159050843C>T	ENST00000367090.3	+	15	1696	c.1685C>T	c.(1684-1686)gCc>gTc	p.A562V		NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN	transmembrane protein 181	562					pathogenesis (GO:0009405)	integral component of membrane (GO:0016021)	toxic substance binding (GO:0015643)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		TCGAAGAATGCCCTCTATGGT	0.527																																						ENST00000367090.3																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22						c.(1684-1686)gCc>gTc		transmembrane protein 181							134.0	132.0	133.0					6																	159050843		1932	4125	6057	SO:0001583	missense	57583				pathogenesis	integral to membrane	toxin binding	g.chr6:159050843C>T	AB037844	CCDS43520.1	6q25.3	2012-08-10	2006-10-19	2006-10-19	ENSG00000146433	ENSG00000146433			20958	protein-coding gene	gene with protein product		613209	"""G protein-coupled receptor 178"", ""KIAA1423"""	KIAA1423, GPR178		16452613	Standard	NM_020823		Approved		uc003qrm.4	Q9P2C4	OTTHUMG00000015913	ENST00000367090.3:c.1685C>T	6.37:g.159050843C>T	ENSP00000356057:p.Ala562Val						p.A562V	NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)	15	1696	+		Breast(66;0.000776)|Ovarian(120;0.0303)	562					Q5VTU1	Missense_Mutation	SNP	ENST00000367090.3	37	c.1685C>T	CCDS43520.1	.	.	.	.	.	.	.	.	.	.	C	36	5.630914	0.96682	.	.	ENSG00000146433	ENST00000314630;ENST00000367090	.	.	.	6.17	6.17	0.99709	.	0.045522	0.85682	D	0.000000	T	0.45975	0.1369	L	0.34521	1.04	0.58432	D	0.999998	P	0.51351	0.944	P	0.46110	0.504	T	0.30937	-0.9961	9	0.35671	T	0.21	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	562	Q9P2C4	TM181_HUMAN	V	469;562	.	ENSP00000323755:A469V	A	+	2	0	TMEM181	158970831	1.000000	0.71417	0.997000	0.53966	0.828000	0.46876	7.681000	0.84073	2.941000	0.99782	0.655000	0.94253	GCC		0.527	TMEM181-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042873.1	NM_020823		4	224	0	0	0	1	0	4	224				
CTBP2	1488	broad.mit.edu	37	10	126682516	126682516	+	Silent	SNP	G	G	A	rs185815738	byFrequency	TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr10:126682516G>A	ENST00000337195.5	-	8	1218	c.819C>T	c.(817-819)ggC>ggT	p.G273G	CTBP2_ENST00000494626.2_Silent_p.G273G|CTBP2_ENST00000411419.2_Silent_p.G273G|CTBP2_ENST00000309035.6_Silent_p.G813G|CTBP2_ENST00000531469.1_Silent_p.G273G|CTBP2_ENST00000334808.6_Silent_p.G341G	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	273					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CCACCAGGCCGCCACGGGCTG	0.582																																						ENST00000309035.6																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(2437-2439)ggC>ggT		C-terminal binding protein 2							82.0	86.0	85.0					10																	126682516		2203	4300	6503	SO:0001819	synonymous_variant	1488				negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	g.chr10:126682516G>A	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.819C>T	10.37:g.126682516G>A						CTBP2_ENST00000334808.6_Silent_p.G341G|CTBP2_ENST00000531469.1_Silent_p.G273G|CTBP2_ENST00000494626.2_Silent_p.G273G|CTBP2_ENST00000337195.5_Silent_p.G273G|CTBP2_ENST00000411419.2_Silent_p.G273G	p.G813G	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)	6	2569	-		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)	273					A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Silent	SNP	ENST00000337195.5	37	c.2439C>T	CCDS7643.1																																																																																				0.582	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		5	376	0	0	0	1	0	5	376				
ATP2B1	490	broad.mit.edu	37	12	89992937	89992937	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr12:89992937C>T	ENST00000428670.3	-	20	3764	c.3308G>A	c.(3307-3309)gGc>gAc	p.G1103D	ATP2B1_ENST00000261173.2_Missense_Mutation_p.G1103D|ATP2B1_ENST00000348959.3_Missense_Mutation_p.G1067D|ATP2B1_ENST00000393164.2_Missense_Mutation_p.G846D|ATP2B1_ENST00000359142.3_Missense_Mutation_p.G1103D			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	1103	Calmodulin-binding subdomain A.				blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						CAAGATTTGGCCACGCCGCAA	0.483																																						ENST00000428670.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						c.(3307-3309)gGc>gAc		ATPase, Ca++ transporting, plasma membrane 1							138.0	122.0	128.0					12																	89992937		2203	4300	6503	SO:0001583	missense	490				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr12:89992937C>T	J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"""ATPases / P-type"""	814	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 1"""	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.3308G>A	12.37:g.89992937C>T	ENSP00000392043:p.Gly1103Asp					ATP2B1_ENST00000348959.3_Missense_Mutation_p.G1067D|ATP2B1_ENST00000359142.3_Missense_Mutation_p.G1103D|ATP2B1_ENST00000261173.2_Missense_Mutation_p.G1103D|ATP2B1_ENST00000393164.2_Missense_Mutation_p.G846D	p.G1103D			P20020	AT2B1_HUMAN			20	3764	-			1103			Calmodulin-binding subdomain A.		Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	ENST00000428670.3	37	c.3308G>A	CCDS9035.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.9|20.9	4.061150|4.061150	0.76074|0.76074	.|.	.|.	ENSG00000070961|ENSG00000070961	ENST00000550716|ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670;ENST00000393164	.|D;D;D;D;D	.|0.87334	.|-2.24;-2.24;-2.24;-2.24;-2.24	5.99|5.99	5.08|5.08	0.68730|0.68730	.|.	.|0.048031	.|0.85682	.|D	.|0.000000	D|D	0.93341|0.93341	0.7877|0.7877	M|M	0.78344|0.78344	2.41|2.41	0.80722|0.80722	D|D	1|1	.|P;D;D	.|0.69078	.|0.934;0.997;0.997	.|P;D;D	.|0.75020	.|0.559;0.985;0.962	D|D	0.94171|0.94171	0.7423|0.7423	5|10	.|0.87932	.|D	.|0	-20.0772|-20.0772	17.1454|17.1454	0.86765|0.86765	0.0:0.8736:0.1264:0.0|0.0:0.8736:0.1264:0.0	.|.	.|1103;1103;1067	.|P20020-3;P20020-2;P20020-6	.|.;.;.	T|D	84|1103;1067;1103;1103;846	.|ENSP00000261173:G1103D;ENSP00000343599:G1067D;ENSP00000352054:G1103D;ENSP00000392043:G1103D;ENSP00000376869:G846D	.|ENSP00000261173:G1103D	A|G	-|-	1|2	0|0	ATP2B1|ATP2B1	88517068|88517068	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	1.000000|1.000000	0.99986|0.99986	7.818000|7.818000	0.86416|0.86416	1.491000|1.491000	0.48482|0.48482	0.655000|0.655000	0.94253|0.94253	GCC|GGC		0.483	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1	NM_001682		6	559	0	0	0	1	0	6	559				
CSNK1A1	1452	broad.mit.edu	37	5	148891414	148891414	+	Silent	SNP	T	T	C			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr5:148891414T>C	ENST00000377843.2	-	6	1097	c.618A>G	c.(616-618)tcA>tcG	p.S206S	CSNK1A1_ENST00000261798.5_Silent_p.S206S|CSNK1A1_ENST00000606719.1_Silent_p.S3S|CSNK1A1_ENST00000515435.1_Silent_p.S145S|CSNK1A1_ENST00000515768.1_Silent_p.S234S|CSNK1A1_ENST00000504676.1_Silent_p.S117S|CSNK1A1_ENST00000606299.1_Intron	NM_001025105.1|NM_001892.4	NP_001020276.1|NP_001883.4	P48729	KC1A_HUMAN	casein kinase 1, alpha 1	206	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		CATATCCTAATGATTCCATGT	0.338																																					Colon(5;64 69 1309 10383)	ENST00000261798.5																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14						c.(616-618)tcA>tcG		casein kinase 1, alpha 1							101.0	102.0	102.0					5																	148891414		1958	4180	6138	SO:0001819	synonymous_variant	1452				cell division|mitosis|Wnt receptor signaling pathway	centrosome|condensed chromosome kinetochore|cytosol|nuclear speck	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr5:148891414T>C	AF119911	CCDS47303.1, CCDS47304.1, CCDS64291.1	5q32	2013-01-17			ENSG00000113712	ENSG00000113712			2451	protein-coding gene	gene with protein product	"""clock regulator kinase"""	600505				8050587	Standard	NM_001025105		Approved	CK1, CK1a, CK1alpha, CKIa, CKIalpha	uc003lqw.2	P48729	OTTHUMG00000163463	ENST00000377843.2:c.618A>G	5.37:g.148891414T>C						CSNK1A1_ENST00000377843.2_Silent_p.S206S|CSNK1A1_ENST00000606299.1_Intron|CSNK1A1_ENST00000515768.1_Silent_p.S234S|CSNK1A1_ENST00000606719.1_Silent_p.S3S|CSNK1A1_ENST00000504676.1_Silent_p.S117S|CSNK1A1_ENST00000515435.1_Silent_p.S145S	p.S206S	NM_001271741.1	NP_001258670.1	P48729	KC1A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)	6	1050	-			206			Protein kinase.		D3DQG0|D3DQG1|Q4JJA0|Q5U046|Q5U047|Q6FGA2|Q71TU5|Q96HD2|Q9UDK3	Silent	SNP	ENST00000377843.2	37	c.618A>G	CCDS47303.1	.	.	.	.	.	.	.	.	.	.	T	10.39	1.336486	0.24253	.	.	ENSG00000113712	ENST00000503350	.	.	.	5.72	1.51	0.23008	.	.	.	.	.	T	0.59459	0.2195	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54490	-0.8286	4	.	.	.	.	10.8543	0.46789	0.5605:0.0:0.0:0.4395	.	.	.	.	R	37	.	.	H	-	2	0	CSNK1A1	148871607	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	0.432000	0.21461	0.367000	0.24454	0.467000	0.42956	CAT		0.338	CSNK1A1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001892		7	544	0	0	0	1	0	7	544				
SRGAP1	57522	broad.mit.edu	37	12	64502748	64502748	+	Missense_Mutation	SNP	G	G	A	rs201404379		TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr12:64502748G>A	ENST00000355086.3	+	16	2374	c.1850G>A	c.(1849-1851)cGc>cAc	p.R617H	RP11-196H14.4_ENST00000535806.1_RNA|SRGAP1_ENST00000543397.1_Missense_Mutation_p.R554H|SRGAP1_ENST00000357825.3_Missense_Mutation_p.R594H	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	617	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CTTCACATCCGCAAACTCCTC	0.463																																						ENST00000355086.3																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65						c.(1849-1851)cGc>cAc		SLIT-ROBO Rho GTPase activating protein 1		G	HIS/ARG	0,4406		0,0,2203	150.0	131.0	137.0		1850	4.3	1.0	12		137	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SRGAP1	NM_020762.2	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	617/1086	64502748	2,13004	2203	4300	6503	SO:0001583	missense	57522				axon guidance	cytosol		g.chr12:64502748G>A	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.1850G>A	12.37:g.64502748G>A	ENSP00000347198:p.Arg617His					RP11-196H14.4_ENST00000535806.1_RNA|SRGAP1_ENST00000543397.1_Missense_Mutation_p.R554H|SRGAP1_ENST00000357825.3_Missense_Mutation_p.R594H	p.R617H	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	16	2374	+			617			Rho-GAP.		Q9H8A3|Q9P2P2	Missense_Mutation	SNP	ENST00000355086.3	37	c.1850G>A	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	G	31	5.089520	0.94149	0.0	2.33E-4	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.20200	2.09;2.09;2.09	5.2	4.29	0.51040	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.216473	0.22557	N	0.058512	T	0.39436	0.1078	L	0.52364	1.645	0.80722	D	1	D;B	0.89917	1.0;0.397	D;B	0.74023	0.982;0.119	T	0.10613	-1.0622	9	.	.	.	.	14.9023	0.70689	0.0708:0.0:0.9292:0.0	.	617;554	Q7Z6B7;G5EA48	SRGP1_HUMAN;.	H	617;594;554	ENSP00000347198:R617H;ENSP00000350480:R594H;ENSP00000437948:R554H	.	R	+	2	0	SRGAP1	62789015	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.722000	0.61958	1.496000	0.48567	0.650000	0.86243	CGC		0.463	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			6	641	0	0	0	1	0	6	641				
CTBP2	1488	broad.mit.edu	37	10	126682486	126682486	+	Silent	SNP	T	T	C	rs76949963	byFrequency	TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr10:126682486T>C	ENST00000337195.5	-	8	1248	c.849A>G	c.(847-849)caA>caG	p.Q283Q	CTBP2_ENST00000494626.2_Silent_p.Q283Q|CTBP2_ENST00000411419.2_Silent_p.Q283Q|CTBP2_ENST00000309035.6_Silent_p.Q823Q|CTBP2_ENST00000531469.1_Silent_p.Q283Q|CTBP2_ENST00000334808.6_Silent_p.Q351Q	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	283					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CCTTGAGGGCTTGTGCTAAGG	0.617																																						ENST00000309035.6																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(2467-2469)caA>caG		C-terminal binding protein 2							94.0	97.0	96.0					10																	126682486		2203	4300	6503	SO:0001819	synonymous_variant	1488				negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	g.chr10:126682486T>C	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.849A>G	10.37:g.126682486T>C						CTBP2_ENST00000334808.6_Silent_p.Q351Q|CTBP2_ENST00000531469.1_Silent_p.Q283Q|CTBP2_ENST00000494626.2_Silent_p.Q283Q|CTBP2_ENST00000337195.5_Silent_p.Q283Q|CTBP2_ENST00000411419.2_Silent_p.Q283Q	p.Q823Q	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)	6	2599	-		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)	283					A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Silent	SNP	ENST00000337195.5	37	c.2469A>G	CCDS7643.1																																																																																				0.617	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		5	386	0	0	0	1	0	5	386				
CBX8	57332	broad.mit.edu	37	17	77768564	77768564	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr17:77768564T>C	ENST00000269385.4	-	5	1157	c.1040A>G	c.(1039-1041)gAg>gGg	p.E347G	CBX8_ENST00000485449.1_5'Flank	NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	347					histone ubiquitination (GO:0016574)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	methylated histone binding (GO:0035064)|single-stranded RNA binding (GO:0003727)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGACTCTTCCTCCGGGTCCCC	0.627																																						ENST00000269385.4																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14						c.(1039-1041)gAg>gGg		chromobox homolog 8							44.0	53.0	50.0					17																	77768564		2202	4299	6501	SO:0001583	missense	57332				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex	methylated histone residue binding	g.chr17:77768564T>C	AF174482	CCDS11765.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141570	ENSG00000141570			15962	protein-coding gene	gene with protein product	"""polycomb 3"", ""Pc class 3 homolog (Drosophila)"""		"""chromobox homolog 8 (Drosophila Pc class)"""			10825164	Standard	NM_020649		Approved	RC1, HPC3, PC3	uc002jxd.2	Q9HC52	OTTHUMG00000150416	ENST00000269385.4:c.1040A>G	17.37:g.77768564T>C	ENSP00000269385:p.Glu347Gly						p.E347G	NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	1157	-			347					Q96H39|Q9NR07	Missense_Mutation	SNP	ENST00000269385.4	37	c.1040A>G	CCDS11765.1	.	.	.	.	.	.	.	.	.	.	t	13.89	2.372411	0.42003	.	.	ENSG00000141570	ENST00000269385	T	0.52983	0.64	4.94	4.94	0.65067	.	0.340813	0.21090	U	0.080336	T	0.44746	0.1308	N	0.04508	-0.205	0.44295	D	0.997161	D	0.71674	0.998	D	0.72982	0.979	T	0.46925	-0.9156	10	0.20519	T	0.43	-25.0512	15.0139	0.71570	0.0:0.0:0.0:1.0	.	347	Q9HC52	CBX8_HUMAN	G	347	ENSP00000269385:E347G	ENSP00000269385:E347G	E	-	2	0	CBX8	75383159	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	3.252000	0.51461	2.011000	0.59026	0.434000	0.28630	GAG		0.627	CBX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318011.1	NM_020649		8	482	0	0	0	1	0	8	482				
CSNK1A1	1452	broad.mit.edu	37	5	148891409	148891409	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr5:148891409C>T	ENST00000377843.2	-	6	1102	c.623G>A	c.(622-624)gGa>gAa	p.G208E	CSNK1A1_ENST00000261798.5_Missense_Mutation_p.G208E|CSNK1A1_ENST00000606719.1_Missense_Mutation_p.G5E|CSNK1A1_ENST00000515435.1_Missense_Mutation_p.G147E|CSNK1A1_ENST00000515768.1_Missense_Mutation_p.G236E|CSNK1A1_ENST00000504676.1_Missense_Mutation_p.G119E|CSNK1A1_ENST00000606299.1_Intron	NM_001025105.1|NM_001892.4	NP_001020276.1|NP_001883.4	P48729	KC1A_HUMAN	casein kinase 1, alpha 1	208	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		CAAAACATATCCTAATGATTC	0.333																																					Colon(5;64 69 1309 10383)	ENST00000261798.5																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14						c.(622-624)gGa>gAa		casein kinase 1, alpha 1							101.0	102.0	101.0					5																	148891409		1963	4181	6144	SO:0001583	missense	1452				cell division|mitosis|Wnt receptor signaling pathway	centrosome|condensed chromosome kinetochore|cytosol|nuclear speck	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr5:148891409C>T	AF119911	CCDS47303.1, CCDS47304.1, CCDS64291.1	5q32	2013-01-17			ENSG00000113712	ENSG00000113712			2451	protein-coding gene	gene with protein product	"""clock regulator kinase"""	600505				8050587	Standard	NM_001025105		Approved	CK1, CK1a, CK1alpha, CKIa, CKIalpha	uc003lqw.2	P48729	OTTHUMG00000163463	ENST00000377843.2:c.623G>A	5.37:g.148891409C>T	ENSP00000367074:p.Gly208Glu					CSNK1A1_ENST00000377843.2_Missense_Mutation_p.G208E|CSNK1A1_ENST00000606299.1_Intron|CSNK1A1_ENST00000515768.1_Missense_Mutation_p.G236E|CSNK1A1_ENST00000606719.1_Missense_Mutation_p.G5E|CSNK1A1_ENST00000504676.1_Missense_Mutation_p.G119E|CSNK1A1_ENST00000515435.1_Missense_Mutation_p.G147E	p.G208E	NM_001271741.1	NP_001258670.1	P48729	KC1A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)	6	1055	-			208			Protein kinase.		D3DQG0|D3DQG1|Q4JJA0|Q5U046|Q5U047|Q6FGA2|Q71TU5|Q96HD2|Q9UDK3	Missense_Mutation	SNP	ENST00000377843.2	37	c.623G>A	CCDS47303.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.211546|5.211546	0.95069|0.95069	.|.	.|.	ENSG00000113712|ENSG00000113712	ENST00000503350|ENST00000261798;ENST00000377843;ENST00000504676;ENST00000515435;ENST00000322237;ENST00000515768	.|D;D;D;D;D	.|0.85013	.|-1.93;-1.93;-1.93;-1.93;-1.93	5.72|5.72	5.72|5.72	0.89469|0.89469	.|Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|U	.|0.000000	D|D	0.97037|0.97037	0.9032|0.9032	H|H	0.99979|0.99979	5.185|5.185	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D	.|0.97110	.|0.998;0.998;1.0;1.0;1.0;1.0	D|D	0.98939|0.98939	1.0790|1.0790	5|10	.|0.87932	.|D	.|0	.|.	19.8669|19.8669	0.96806|0.96806	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|147;147;208;208;236;119	.|B4DER9;E7ETM0;Q71TU5;P48729;P48729-2;D6REM4	.|.;.;.;KC1A_HUMAN;.;.	N|E	39|208;208;119;147;208;236	.|ENSP00000261798:G208E;ENSP00000367074:G208E;ENSP00000426747:G119E;ENSP00000427031:G147E;ENSP00000421689:G236E	.|ENSP00000261798:G208E	D|G	-|-	1|2	0|0	CSNK1A1|CSNK1A1	148871602|148871602	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.750000|7.750000	0.85110|0.85110	2.704000|2.704000	0.92352|0.92352	0.573000|0.573000	0.79308|0.79308	GAT|GGA		0.333	CSNK1A1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001892		7	546	0	0	0	1	0	7	546				
TPTE2P6	374491	broad.mit.edu	37	13	25168489	25168489	+	RNA	SNP	G	G	A	rs200109937		TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr13:25168489G>A	ENST00000453498.1	+	0	1161				TPTE2P6_ENST00000440905.1_RNA																							TGAAAGTGCAGTTTTTCTCTT	0.363																																						ENST00000453498.1																			0																																																			0							g.chr13:25168489G>A																													13.37:g.25168489G>A														0	1161	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.363	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			6	326	0	0	0	1	0	6	326				
SCN1A	6323	broad.mit.edu	37	2	166894518	166894518	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr2:166894518G>A	ENST00000303395.4	-	15	2713	c.2714C>T	c.(2713-2715)gCc>gTc	p.A905V	SCN1A_ENST00000375405.3_Missense_Mutation_p.A894V|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.A877V|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.A905V			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	905					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GCCGACCACGGCAAAAATGAA	0.468																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(2713-2715)gCc>gTc		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						118.0	113.0	115.0					2																	166894518		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166894518G>A	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.2714C>T	2.37:g.166894518G>A	ENSP00000303540:p.Ala905Val					AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.A894V|SCN1A_ENST00000409050.1_Missense_Mutation_p.A877V|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.A905V|AC010127.3_ENST00000599041.1_RNA	p.A905V	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			15	2731	-			905					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.2714C>T	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	G	34	5.377262	0.95945	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.98474	-4.95;-4.95;-4.95;-4.95	5.08	5.08	0.68730	Ion transport (1);	0.000000	0.64402	D	0.000003	D	0.99348	0.9771	H	0.95950	3.745	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.966	D;D;P	0.83275	0.994;0.996;0.838	D	0.98648	1.0678	10	0.87932	D	0	.	18.8132	0.92065	0.0:0.0:1.0:0.0	.	894;877;905	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	V	905;905;894;877	ENSP00000407030:A905V;ENSP00000303540:A905V;ENSP00000364554:A894V;ENSP00000386312:A877V	ENSP00000303540:A905V	A	-	2	0	SCN1A	166602764	1.000000	0.71417	0.984000	0.44739	0.944000	0.59088	9.748000	0.98867	2.525000	0.85131	0.591000	0.81541	GCC		0.468	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		5	398	0	0	0	1	0	5	398				
DEPDC5	9681	broad.mit.edu	37	22	32211058	32211058	+	Missense_Mutation	SNP	G	G	A	rs372489331		TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr22:32211058G>A	ENST00000382112.3	+	20	1596	c.1526G>A	c.(1525-1527)cGc>cAc	p.R509H	DEPDC5_ENST00000400249.2_Missense_Mutation_p.R509H|DEPDC5_ENST00000266091.3_Missense_Mutation_p.R509H|DEPDC5_ENST00000382105.2_Missense_Mutation_p.R509H|DEPDC5_ENST00000400246.1_Missense_Mutation_p.R509H|DEPDC5_ENST00000382111.2_Missense_Mutation_p.R509H|DEPDC5_ENST00000536766.1_Missense_Mutation_p.R481H|DEPDC5_ENST00000400248.2_Missense_Mutation_p.R509H|DEPDC5_ENST00000535622.1_Missense_Mutation_p.R509H|DEPDC5_ENST00000400242.3_Missense_Mutation_p.R509H	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	509					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CTACCAAGCCGCACACTGCCC	0.572																																						ENST00000400246.1																			0				breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(1525-1527)cGc>cAc		DEP domain containing 5		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4112		0,0,2056	86.0	88.0	87.0		1526,1526,1526,1526,1526	3.9	0.1	22		87	1,8415		0,1,4207	no	missense,missense,missense,missense,missense	DEPDC5	NM_001007188.2,NM_001136029.2,NM_001242896.1,NM_001242897.1,NM_014662.3	29,29,29,29,29	0,1,6263	AA,AG,GG		0.0119,0.0,0.0080	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	509/560,509/1595,509/1604,509/1504,509/1573	32211058	1,12527	2056	4208	6264	SO:0001583	missense	9681				intracellular signal transduction			g.chr22:32211058G>A	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.1526G>A	22.37:g.32211058G>A	ENSP00000371546:p.Arg509His					DEPDC5_ENST00000536766.1_Missense_Mutation_p.R481H|DEPDC5_ENST00000400249.2_Missense_Mutation_p.R509H|DEPDC5_ENST00000400248.1_Missense_Mutation_p.R509H|DEPDC5_ENST00000382112.3_Missense_Mutation_p.R509H|DEPDC5_ENST00000266091.3_Missense_Mutation_p.R509H|DEPDC5_ENST00000382111.2_Missense_Mutation_p.R509H|DEPDC5_ENST00000535622.1_Missense_Mutation_p.R509H|DEPDC5_ENST00000382105.2_Missense_Mutation_p.R509H|DEPDC5_ENST00000400242.3_Missense_Mutation_p.R509H	p.R509H			O75140	DEPD5_HUMAN			21	1668	+			509					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	c.1526G>A	CCDS46692.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.846647	0.51164	0.0	1.19E-4	ENSG00000100150	ENST00000535622;ENST00000536766;ENST00000400242;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	T;T;T;T;T;T;T;T;T;T	0.51071	1.43;1.42;0.72;1.81;1.8;1.79;1.39;1.8;1.79;1.8	6.01	3.93	0.45458	.	0.050574	0.85682	D	0.000000	T	0.59770	0.2218	L	0.57536	1.79	0.58432	D	0.999993	D;D;P;D;D;D	0.76494	0.999;0.975;0.547;0.999;0.999;0.992	P;P;B;P;P;P	0.62184	0.899;0.503;0.138;0.891;0.899;0.557	T	0.58885	-0.7557	10	0.44086	T	0.13	.	12.4786	0.55829	0.1353:0.0:0.8647:0.0	.	509;481;509;509;509;509	B9EGN9;F5GYZ8;B4DH93;A8MPX9;O75140;O75140-2	.;.;.;.;DEPD5_HUMAN;.	H	509;481;509;509;509;509;509;509;509;509;509	ENSP00000440210:R509H;ENSP00000441358:R481H;ENSP00000383101:R509H;ENSP00000266091:R509H;ENSP00000383108:R509H;ENSP00000383105:R509H;ENSP00000371539:R509H;ENSP00000371546:R509H;ENSP00000371545:R509H;ENSP00000383107:R509H	ENSP00000266091:R509H	R	+	2	0	DEPDC5	30541058	1.000000	0.71417	0.051000	0.19133	0.396000	0.30629	4.969000	0.63735	0.894000	0.36317	0.558000	0.71614	CGC		0.572	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		5	311	0	0	0	1	0	5	311				
BIRC6	57448	broad.mit.edu	37	2	32734896	32734896	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr2:32734896C>G	ENST00000421745.2	+	52	10206	c.10072C>G	c.(10072-10074)Ctg>Gtg	p.L3358V		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3358					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TACTGCTAATCTGCTGCAGAC	0.433																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.(10072-10074)Ctg>Gtg		baculoviral IAP repeat containing 6							200.0	175.0	184.0					2																	32734896		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32734896C>G	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.10072C>G	2.37:g.32734896C>G	ENSP00000393596:p.Leu3358Val						p.L3358V	NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			52	10206	+	Acute lymphoblastic leukemia(172;0.155)		3358					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.10072C>G	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	12.66	2.004666	0.35320	.	.	ENSG00000115760	ENST00000421745	T	0.79352	-1.26	5.67	2.9	0.33743	.	0.000000	0.64402	D	0.000003	T	0.81465	0.4828	L	0.43152	1.355	0.48762	D	0.999706	D	0.63880	0.993	D	0.70016	0.967	T	0.80134	-0.1509	10	0.66056	D	0.02	.	10.2512	0.43370	0.0:0.7978:0.0:0.2022	.	3358	Q9NR09	BIRC6_HUMAN	V	3358	ENSP00000393596:L3358V	ENSP00000393596:L3358V	L	+	1	2	BIRC6	32588400	1.000000	0.71417	0.603000	0.28903	0.460000	0.32559	3.334000	0.52097	0.416000	0.25844	0.585000	0.79938	CTG		0.433	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		6	603	0	0	0	1	0	6	603				
SLC18A3	6572	broad.mit.edu	37	10	50819229	50819229	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr10:50819229G>A	ENST00000374115.3	+	1	883	c.443G>A	c.(442-444)cGc>cAc	p.R148H	CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	148					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						TTCATCGACCGCATGAGCTAC	0.617																																						ENST00000374115.3																			0				endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						c.(442-444)cGc>cAc		solute carrier family 18 (vesicular acetylcholine transporter), member 3							93.0	88.0	89.0					10																	50819229		2203	4300	6503	SO:0001583	missense	6572				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	g.chr10:50819229G>A	BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"""Solute carriers"""	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.443G>A	10.37:g.50819229G>A	ENSP00000363229:p.Arg148His					CHAT_ENST00000339797.1_Intron	p.R148H	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN			1	883	+			148					B2R7S1	Missense_Mutation	SNP	ENST00000374115.3	37	c.443G>A	CCDS7231.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.826104	0.90955	.	.	ENSG00000187714	ENST00000374115	T	0.65549	-0.16	4.8	4.8	0.61643	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	U	0.000001	D	0.83982	0.5372	M	0.93678	3.445	0.58432	D	0.999993	D	0.64830	0.994	D	0.66847	0.947	D	0.88998	0.3419	10	0.87932	D	0	-4.4522	17.8543	0.88758	0.0:0.0:1.0:0.0	.	148	Q16572	VACHT_HUMAN	H	148	ENSP00000363229:R148H	ENSP00000363229:R148H	R	+	2	0	SLC18A3	50489235	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.464000	0.97655	2.203000	0.70933	0.561000	0.74099	CGC		0.617	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	NM_003055		6	432	0	0	0	1	0	6	432				
ATG2A	23130	broad.mit.edu	37	11	64677636	64677636	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr11:64677636C>A	ENST00000377264.3	-	13	1851	c.1739G>T	c.(1738-1740)tGc>tTc	p.C580F	ATG2A_ENST00000421419.2_Missense_Mutation_p.C580F	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	580					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TTCTGAGTGGCAATGGCAGGC	0.687																																						ENST00000421419.2																			0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(1738-1740)tGc>tTc		autophagy related 2A							28.0	34.0	32.0					11																	64677636		2186	4266	6452	SO:0001583	missense	23130						protein binding	g.chr11:64677636C>A		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.1739G>T	11.37:g.64677636C>A	ENSP00000366475:p.Cys580Phe					ATG2A_ENST00000377264.3_Missense_Mutation_p.C580F	p.C580F			Q2TAZ0	ATG2A_HUMAN			13	1853	-			580					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	c.1739G>T	CCDS31602.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.875|8.875	0.950190|0.950190	0.18431|0.18431	.|.	.|.	ENSG00000110046|ENSG00000110046	ENST00000421419;ENST00000377264|ENST00000418259	T;T|.	0.06371|.	3.31;3.31|.	5.04|5.04	4.13|4.13	0.48395|0.48395	.|.	0.132501|.	0.52532|.	D|.	0.000075|.	T|T	0.56949|0.56949	0.2020|0.2020	L|L	0.47716|0.47716	1.5|1.5	0.38137|0.38137	D|D	0.938347|0.938347	B|.	0.24823|.	0.112|.	B|.	0.15870|.	0.014|.	T|T	0.57774|0.57774	-0.7753|-0.7753	10|5	0.12766|.	T|.	0.61|.	.|.	9.8189|9.8189	0.40869|0.40869	0.0:0.9041:0.0:0.0959|0.0:0.9041:0.0:0.0959	.|.	580|.	Q2TAZ0|.	ATG2A_HUMAN|.	F|F	580|381	ENSP00000410522:C580F;ENSP00000366475:C580F|.	ENSP00000366475:C580F|.	C|L	-|-	2|3	0|2	ATG2A|ATG2A	64434212|64434212	0.958000|0.958000	0.32768|0.32768	0.997000|0.997000	0.53966|0.53966	0.800000|0.800000	0.45204|0.45204	1.157000|1.157000	0.31724|0.31724	1.266000|1.266000	0.44231|0.44231	0.462000|0.462000	0.41574|0.41574	TGC|TTG		0.687	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		4	155	1	0	4.096e-09	1	4.55752e-09	4	155				
TBP	6908	broad.mit.edu	37	6	170871064	170871064	+	Silent	SNP	G	G	A	rs112748399		TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr6:170871064G>A	ENST00000392092.2	+	3	519	c.240G>A	c.(238-240)caG>caA	p.Q80Q	TBP_ENST00000540980.1_Silent_p.Q60Q|TBP_ENST00000230354.6_Silent_p.Q80Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	80	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.577																																						ENST00000392092.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(238-240)caG>caA		TATA box binding protein							11.0	17.0	15.0					6																	170871064		1936	3813	5749	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871064G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.240G>A	6.37:g.170871064G>A						TBP_ENST00000540980.1_Silent_p.Q60Q|TBP_ENST00000230354.6_Silent_p.Q80Q	p.Q80Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	519	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	80			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.240G>A	CCDS5315.1																																																																																				0.577	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		5	115	0	0	0	1	0	5	115				
ZNF709	163051	broad.mit.edu	37	19	12575498	12575498	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr19:12575498G>A	ENST00000397732.3	-	4	1409	c.1238C>T	c.(1237-1239)aCt>aTt	p.T413I	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	413					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T413I(2)		large_intestine(3)|upper_aerodigestive_tract(3)	6						TCCAGTGTGAGTTCTTTCATG	0.418																																					GBM(33;565 669 12371 29134 51667)	ENST00000397732.3																			2	Substitution - Missense(2)	p.T413I(2)	kidney(1)|skin(1)	large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(1237-1239)aCt>aTt		zinc finger protein 709							106.0	111.0	109.0					19																	12575498		2202	4299	6501	SO:0001583	missense	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12575498G>A	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"""Zinc fingers, C2H2-type"", ""-"""	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1238C>T	19.37:g.12575498G>A	ENSP00000380840:p.Thr413Ile					CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I	p.T413I	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN			4	1409	-			413					A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	c.1238C>T	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	G	0.031	-1.333208	0.01298	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	T;T	0.06142	3.34;3.34	3.05	-3.79	0.04320	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35067	N	0.003471	T	0.01976	0.0062	N	0.11000	0.08	0.09310	N	1	B	0.28258	0.205	B	0.25884	0.064	T	0.43814	-0.9368	10	0.02654	T	1	.	5.8441	0.18652	0.2644:0.3999:0.3357:0.0	.	413	Q8N972	ZN709_HUMAN	I	413	ENSP00000380840:T413I;ENSP00000404127:T413I	ENSP00000404127:T413I	T	-	2	0	ZNF709;CTD-2192J16.17	12436498	0.000000	0.05858	0.002000	0.10522	0.972000	0.66771	-2.485000	0.00979	-0.610000	0.05716	0.591000	0.81541	ACT		0.418	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		8	895	0	0	0	1	0	8	895				
MAML1	9794	broad.mit.edu	37	5	179192636	179192636	+	Missense_Mutation	SNP	C	C	T	rs578168072		TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr5:179192636C>T	ENST00000292599.3	+	2	888	c.625C>T	c.(625-627)Cct>Tct	p.P209S	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGAGTCATTTCCTCTGAGCCT	0.527													C|||	1	0.000199681	0.0	0.0	5008	,	,		18327	0.0		0.0	False		,,,				2504	0.001					ENST00000292599.3																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36						c.(625-627)Cct>Tct		mastermind-like 1 (Drosophila)							53.0	51.0	52.0					5																	179192636		2203	4300	6503	SO:0001583	missense	9794				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity	g.chr5:179192636C>T	D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"""mastermind homolog"""	605424	"""mastermind (drosophila)-like 1"""			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.625C>T	5.37:g.179192636C>T	ENSP00000292599:p.Pro209Ser					MAML1_ENST00000503050.1_3'UTR	p.P209S	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	888	+	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	209						Missense_Mutation	SNP	ENST00000292599.3	37	c.625C>T	CCDS34315.1	.	.	.	.	.	.	.	.	.	.	C	2.237	-0.374809	0.05034	.	.	ENSG00000161021	ENST00000292599;ENST00000376951	T	0.41065	1.01	4.9	-2.85	0.05734	.	0.748097	0.12499	N	0.463489	T	0.21267	0.0512	N	0.17082	0.46	0.09310	N	1	B;B	0.24483	0.104;0.021	B;B	0.27887	0.084;0.012	T	0.34650	-0.9820	10	0.07030	T	0.85	-0.2222	10.5807	0.45255	0.1074:0.1897:0.6345:0.0684	.	246;209	Q59GH4;Q92585	.;MAML1_HUMAN	S	209;246	ENSP00000292599:P209S	ENSP00000292599:P209S	P	+	1	0	MAML1	179125242	0.894000	0.30519	0.183000	0.23137	0.961000	0.63080	0.063000	0.14410	-0.556000	0.06134	-0.519000	0.04390	CCT		0.527	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		7	280	0	0	0	1	0	7	280				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		8	176	0	0	0	1	0	8	176				
PIK3AP1	118788	broad.mit.edu	37	10	98388169	98388169	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr10:98388169C>T	ENST00000339364.5	-	9	1576	c.1457G>A	c.(1456-1458)cGc>cAc	p.R486H	PIK3AP1_ENST00000371110.2_Missense_Mutation_p.R308H|PIK3AP1_ENST00000371109.3_Missense_Mutation_p.R85H|PIK3AP1_ENST00000468783.1_5'UTR	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	486					negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		TAAAAACTTGCGGATCATAGA	0.448																																						ENST00000339364.5																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52						c.(1456-1458)cGc>cAc		phosphoinositide-3-kinase adaptor protein 1							162.0	165.0	164.0					10																	98388169		2203	4300	6503	SO:0001583	missense	118788					cytoplasm|plasma membrane		g.chr10:98388169C>T	AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.1457G>A	10.37:g.98388169C>T	ENSP00000339826:p.Arg486His					PIK3AP1_ENST00000468783.1_5'UTR|PIK3AP1_ENST00000371109.3_Missense_Mutation_p.R85H|PIK3AP1_ENST00000371110.2_Missense_Mutation_p.R308H	p.R486H	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)	9	1576	-		Colorectal(252;0.0442)	486					Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Missense_Mutation	SNP	ENST00000339364.5	37	c.1457G>A	CCDS31259.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.905704	0.92107	.	.	ENSG00000155629	ENST00000339364;ENST00000371110;ENST00000371109	T;T;T	0.40756	2.7;2.02;1.02	5.55	5.55	0.83447	.	0.126173	0.56097	D	0.000029	T	0.62356	0.2421	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.56878	-0.7906	10	0.37606	T	0.19	-18.5849	18.856	0.92252	0.0:1.0:0.0:0.0	.	486;85	Q6ZUJ8;Q6ZUJ8-3	BCAP_HUMAN;.	H	486;308;85	ENSP00000339826:R486H;ENSP00000360151:R308H;ENSP00000360150:R85H	ENSP00000339826:R486H	R	-	2	0	PIK3AP1	98378159	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.935000	0.63498	2.753000	0.94483	0.655000	0.94253	CGC		0.448	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049619.2	NM_152309		6	518	0	0	0	1	0	6	518				
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C	rs370761877		TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1760				P -> A (in Ref. 3; CAI56757). {ECO:0000305}.	protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)	p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308																																						ENST00000302558.3																			12	Substitution - Missense(12)	p.P1760A(12)	prostate(6)|urinary_tract(2)|endometrium(2)|kidney(2)	endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.(5278-5280)Cct>Gct		RANBP2-like and GRIP domain containing 8							235.0	168.0	189.0					2																	113127775		686	1558	2244	SO:0001583	missense	727851							g.chr2:113127775G>C	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.5278C>G	2.37:g.113127775G>C	ENSP00000306637:p.Pro1760Ala					RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	p.P1760A	NM_001164463.1	NP_001157935.1					23	5469	-								Q5CZA8	Missense_Mutation	SNP	ENST00000302558.3	37	c.5278C>G	CCDS46394.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.892319	0.00522	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.36520	1.25;1.25	0.719	0.719	0.18208	.	.	.	.	.	T	0.11239	0.0274	N	0.02011	-0.69	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.18650	-1.0330	9	0.10902	T	0.67	-6.3628	6.3935	0.21599	0.0:0.6881:0.3119:0.0	.	1760	O14715	RGPD8_HUMAN	A	1760;1620	ENSP00000306637:P1760A;ENSP00000386511:P1620A	ENSP00000306637:P1760A	P	-	1	0	RGPD8	112844246	0.746000	0.28272	0.842000	0.33263	0.015000	0.08874	0.243000	0.18106	-0.105000	0.12132	-1.123000	0.02005	CCT		0.308	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		4	257	0	0	0	1	0	4	257				
NOP9	161424	broad.mit.edu	37	14	24771231	24771231	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr14:24771231G>A	ENST00000267425.3	+	4	962	c.869G>A	c.(868-870)cGc>cAc	p.R290H	DHRS1_ENST00000288111.7_5'Flank|NOP9_ENST00000396802.3_Missense_Mutation_p.R290H|DHRS1_ENST00000396813.1_5'Flank	NM_174913.1	NP_777573.1	Q86U38	NOP9_HUMAN	NOP9 nucleolar protein	290							poly(A) RNA binding (GO:0044822)										GTTTTACACCGCAAACTTCCC	0.488																																						ENST00000267425.3																			0											c.(868-870)cGc>cAc		NOP9 nucleolar protein							153.0	156.0	155.0					14																	24771231		2203	4300	6503	SO:0001583	missense	161424							g.chr14:24771231G>A		CCDS9624.1, CCDS66616.1	14q12	2012-12-10	2012-12-10	2012-06-06	ENSG00000196943	ENSG00000196943			19826	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 21"", ""NOP9 nucleolar protein homolog (yeast)"""	C14orf21		21653694	Standard	XM_005267385		Approved		uc001wol.1	Q86U38	OTTHUMG00000029342	ENST00000267425.3:c.869G>A	14.37:g.24771231G>A	ENSP00000267425:p.Arg290His					NOP9_ENST00000396802.3_Missense_Mutation_p.R290H	p.R290H	NM_174913.1	NP_777573.1					4	962	+								A8MY76|Q8IVF0|Q8TBS6	Missense_Mutation	SNP	ENST00000267425.3	37	c.869G>A	CCDS9624.1	.	.	.	.	.	.	.	.	.	.	G	6.343	0.431357	0.12045	.	.	ENSG00000196943	ENST00000267425;ENST00000396802	T;T	0.32515	1.48;1.45	5.21	2.37	0.29283	Armadillo-type fold (1);	0.221477	0.43919	N	0.000519	T	0.28962	0.0719	L	0.59436	1.845	0.33369	D	0.573359	B	0.18310	0.027	B	0.14578	0.011	T	0.26573	-1.0099	10	0.39692	T	0.17	-12.7136	11.6348	0.51198	0.2276:0.0:0.7724:0.0	.	290	Q86U38	CN021_HUMAN	H	290	ENSP00000267425:R290H;ENSP00000380020:R290H	ENSP00000267425:R290H	R	+	2	0	C14orf21	23841071	0.193000	0.23313	0.935000	0.37517	0.006000	0.05464	1.015000	0.29963	0.084000	0.17077	-0.797000	0.03246	CGC		0.488	NOP9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073186.2			7	748	0	0	0	1	0	7	748				
UBAP2	55833	broad.mit.edu	37	9	33989115	33989115	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr9:33989115C>T	ENST00000379238.1	-	5	415	c.298G>A	c.(298-300)Gag>Aag	p.E100K	UBAP2_ENST00000539807.1_Intron|UBAP2_ENST00000449054.1_Missense_Mutation_p.E100K|UBAP2_ENST00000360802.1_Missense_Mutation_p.E100K|UBAP2_ENST00000418786.2_Missense_Mutation_p.E100K|UBAP2_ENST00000379239.4_5'UTR					ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		CCTACAGTCTCCCATGAAGTC	0.343																																						ENST00000379238.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32						c.(298-300)Gag>Aag		ubiquitin associated protein 2							60.0	57.0	58.0					9																	33989115		2203	4300	6503	SO:0001583	missense	55833							g.chr9:33989115C>T	AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.298G>A	9.37:g.33989115C>T	ENSP00000368540:p.Glu100Lys					UBAP2_ENST00000379239.4_5'UTR|UBAP2_ENST00000539807.1_Intron|UBAP2_ENST00000360802.1_Missense_Mutation_p.E100K|UBAP2_ENST00000449054.1_Missense_Mutation_p.E100K|UBAP2_ENST00000418786.2_Missense_Mutation_p.E100K	p.E100K			Q5T6F2	UBAP2_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)	5	415	-			100						Missense_Mutation	SNP	ENST00000379238.1	37	c.298G>A	CCDS6547.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.853073	0.91355	.	.	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379260;ENST00000351580;ENST00000418786;ENST00000412543	T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25	5.18	5.18	0.71444	UBA-like (1);	0.000000	0.85682	D	0.000000	T	0.61527	0.2354	M	0.72118	2.19	0.80722	D	1	D;D;D;D;D	0.76494	0.964;0.999;0.998;0.998;0.998	D;D;D;D;D	0.81914	0.946;0.995;0.994;0.989;0.989	T	0.65660	-0.6114	10	0.87932	D	0	-6.7904	18.7036	0.91630	0.0:1.0:0.0:0.0	.	100;25;62;25;100	E7EWG4;F5H4D5;F5H2C8;B4DH66;Q5T6F2	.;.;.;.;UBAP2_HUMAN	K	100;100;100;62;40;100;100;100	ENSP00000368540:E100K;ENSP00000416932:E100K;ENSP00000354039:E100K;ENSP00000404436:E100K;ENSP00000414800:E100K	ENSP00000259602:E100K	E	-	1	0	UBAP2	33979115	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	7.100000	0.76989	2.398000	0.81561	0.650000	0.86243	GAG		0.343	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1	NM_018449		214	173	0	0	0	1	0	214	173				
GTF2IRD2P1	401375	broad.mit.edu	37	7	72663998	72663998	+	RNA	SNP	T	T	G			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr7:72663998T>G	ENST00000425256.1	-	0	902									GTF2I repeat domain containing 2 pseudogene 1																		ATAGCCGGGGTCCTTGAATAC	0.488																																						ENST00000425256.1																			0																																																			0							g.chr7:72663998T>G	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72663998T>G								NR_002164.1						0	902	-									RNA	SNP	ENST00000425256.1	37																																																																																						0.488	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		5	316	0	0	0	1	0	5	316				
ANAPC5	51433	broad.mit.edu	37	12	121746425	121746425	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr12:121746425C>T	ENST00000261819.3	-	17	2247	c.2126G>A	c.(2125-2127)cGc>cAc	p.R709H	ANAPC5_ENST00000541887.1_Missense_Mutation_p.R696H|ANAPC5_ENST00000535482.1_Missense_Mutation_p.R375H|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000344395.4_Missense_Mutation_p.R597H|ANAPC5_ENST00000441917.2_Missense_Mutation_p.R597H	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	709					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GTCCCTGATGCGCTCTTTGCA	0.527																																						ENST00000261819.3																			0				breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31						c.(2125-2127)cGc>cAc		anaphase promoting complex subunit 5							159.0	138.0	145.0					12																	121746425		2203	4300	6503	SO:0001583	missense	51433				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr12:121746425C>T	AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053		"""Anaphase promoting complex subunits"""	15713	protein-coding gene	gene with protein product		606948				9469815	Standard	NM_016237		Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.2126G>A	12.37:g.121746425C>T	ENSP00000261819:p.Arg709His					ANAPC5_ENST00000344395.4_Missense_Mutation_p.R597H|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000535482.1_Missense_Mutation_p.R375H|ANAPC5_ENST00000441917.2_Missense_Mutation_p.R597H|ANAPC5_ENST00000541887.1_Missense_Mutation_p.R696H	p.R709H	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN			17	2247	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		709					E9PFB2|Q8N4H7|Q9BQD4	Missense_Mutation	SNP	ENST00000261819.3	37	c.2126G>A	CCDS9220.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.072176	0.76415	.	.	ENSG00000089053	ENST00000441917;ENST00000541887;ENST00000261819;ENST00000535482;ENST00000544314;ENST00000344395	T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.98	5.61	3.41	0.39046	Tetratricopeptide-like helical (1);	0.174381	0.52532	D	0.000074	T	0.68210	0.2976	L	0.43923	1.385	0.80722	D	1	P;P;P	0.51147	0.942;0.784;0.903	P;B;B	0.48089	0.566;0.34;0.433	T	0.66598	-0.5883	10	0.72032	D	0.01	.	5.2077	0.15299	0.0:0.3649:0.0:0.6351	.	375;597;709	F5H0N1;E9PFB2;Q9UJX4	.;.;APC5_HUMAN	H	597;696;709;375;311;597	ENSP00000415061:R597H;ENSP00000439875:R696H;ENSP00000261819:R709H;ENSP00000438754:R375H;ENSP00000343787:R597H	ENSP00000261819:R709H	R	-	2	0	ANAPC5	120230808	0.996000	0.38824	0.780000	0.31762	0.867000	0.49689	3.016000	0.49607	0.521000	0.28445	0.563000	0.77884	CGC		0.527	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402582.1			7	791	0	0	0	1	0	7	791				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		7	159	0	0	0	1	0	7	159				
EGR4	1961	broad.mit.edu	37	2	73519782	73519782	+	Silent	SNP	A	A	G			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr2:73519782A>G	ENST00000545030.1	-	2	647	c.573T>C	c.(571-573)atT>atC	p.I191I	EGR4_ENST00000436467.2_Silent_p.I88I	NM_001965.3	NP_001956.3	Q05215	EGR4_HUMAN	early growth response 4	191	Pro-rich.				cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GCACTGCCTGAATGAAGAAGC	0.657																																						ENST00000545030.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(571-573)atT>atC		early growth response 4							26.0	30.0	28.0					2																	73519782		2203	4299	6502	SO:0001819	synonymous_variant	1961					intracellular	nucleic acid binding|zinc ion binding	g.chr2:73519782A>G		CCDS1925.2	2p13	2013-01-08			ENSG00000135625	ENSG00000135625		"""Zinc fingers, C2H2-type"""	3241	protein-coding gene	gene with protein product		128992				1584812	Standard	NM_001965		Approved	NGFI-C, PAT133	uc010yrj.2	Q05215	OTTHUMG00000129774	ENST00000545030.1:c.573T>C	2.37:g.73519782A>G						EGR4_ENST00000436467.2_Silent_p.I88I	p.I191I	NM_001965.3	NP_001956.3	B7ZKU3	B7ZKU3_HUMAN			2	647	-			87					B2RAE3|G3V1T5|Q2Z1P5	Silent	SNP	ENST00000545030.1	37	c.573T>C	CCDS1925.2																																																																																				0.657	EGR4-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001965		17	30	0	0	0	1	0	17	30				
DRD5	1816	broad.mit.edu	37	4	9784063	9784063	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr4:9784063A>G	ENST00000304374.2	+	1	806	c.410A>G	c.(409-411)gAc>gGc	p.D137G		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	137					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)	p.D137G(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	ATCAGCGTGGACCGCTACTGG	0.612																																						ENST00000304374.2																			1	Substitution - Missense(1)	p.D137G(1)	prostate(1)	NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57						c.(409-411)gAc>gGc		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						42.0	40.0	41.0					4																	9784063		2203	4300	6503	SO:0001583	missense	0				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9784063A>G	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.410A>G	4.37:g.9784063A>G	ENSP00000306129:p.Asp137Gly						p.D137G	NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN			1	806	+			137					B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	c.410A>G	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	a	20.6	4.025892	0.75390	.	.	ENSG00000169676	ENST00000304374	D	0.85702	-2.02	4.35	4.35	0.52113	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.94922	0.8358	H	0.98111	4.15	0.80722	D	1	D	0.71674	0.998	D	0.76575	0.988	D	0.96259	0.9189	10	0.87932	D	0	.	12.8864	0.58047	1.0:0.0:0.0:0.0	.	137	P21918	DRD5_HUMAN	G	137	ENSP00000306129:D137G	ENSP00000306129:D137G	D	+	2	0	DRD5	9393161	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.708000	0.91372	1.824000	0.53156	0.254000	0.18369	GAC		0.612	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			5	119	0	0	0	1	0	5	119				
GPD1L	23171	broad.mit.edu	37	3	32201095	32201095	+	Silent	SNP	G	G	A			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr3:32201095G>A	ENST00000282541.5	+	7	1089	c.888G>A	c.(886-888)ggG>ggA	p.G296G		NM_015141.3	NP_055956.1	Q8N335	GPD1L_HUMAN	glycerol-3-phosphate dehydrogenase 1-like	296					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|glycerol-3-phosphate catabolic process (GO:0046168)|glycerophospholipid biosynthetic process (GO:0046474)|NAD metabolic process (GO:0019674)|NADH metabolic process (GO:0006734)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein kinase C signaling (GO:0090038)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of protein localization to cell surface (GO:2000010)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate (GO:0002027)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|ventricular cardiac muscle cell action potential (GO:0086005)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycerol-3-phosphate dehydrogenase complex (GO:0009331)|plasma membrane (GO:0005886)	glycerol-3-phosphate dehydrogenase [NAD+] activity (GO:0004367)|ion channel binding (GO:0044325)|NAD binding (GO:0051287)|sodium channel regulator activity (GO:0017080)			large_intestine(4)|lung(7)|ovary(1)	12						TGCTGAATGGGCAAAAGCTCC	0.403																																						ENST00000282541.5																			0				large_intestine(4)|lung(7)|ovary(1)	12						c.(886-888)ggG>ggA		glycerol-3-phosphate dehydrogenase 1-like							62.0	59.0	60.0					3																	32201095		2203	4300	6503	SO:0001819	synonymous_variant	23171				glycerol-3-phosphate catabolic process	glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|NAD binding|protein homodimerization activity	g.chr3:32201095G>A	D42047	CCDS33729.1	3p22.3	2014-09-17			ENSG00000152642	ENSG00000152642			28956	protein-coding gene	gene with protein product		611778				7788527	Standard	NM_015141		Approved	KIAA0089	uc003cew.3	Q8N335	OTTHUMG00000155846	ENST00000282541.5:c.888G>A	3.37:g.32201095G>A							p.G296G	NM_015141.3	NP_055956.1	Q8N335	GPD1L_HUMAN			7	1089	+			296					A8K9U3|Q14702|Q9BRM5	Silent	SNP	ENST00000282541.5	37	c.888G>A	CCDS33729.1																																																																																				0.403	GPD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341975.2	NM_015141		4	297	0	0	0	1	0	4	297				
CYP4Z2P	163720	broad.mit.edu	37	1	47310359	47310360	+	RNA	INS	-	-	T	rs372212671		TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr1:47310359_47310360insT	ENST00000505841.1	-	0	1269					NR_002788.2		Q8N1L4	CP4Z2_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 2, pseudogene							integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)										CAAAAACAAAACCCTAGATATT	0.421																																						ENST00000505841.1																			0																																																			0							g.chr1:47310359_47310360insT	AY262057		1p33	2013-07-25	2013-05-03		ENSG00000154198	ENSG00000154198		"""Cytochrome P450s"""	24426	pseudogene	pseudogene						15059886	Standard	NR_002788		Approved	FLJ40054	uc031pmm.1	Q8N1L4	OTTHUMG00000008024		1.37:g.47310359_47310360insT								NR_002788.2						0	1269	-								Q66ZJ5	RNA	INS	ENST00000505841.1	37																																																																																						0.421	CYP4Z2P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361094.1	NR_002788		13	68						13	68	---	---	---	---
HIAT1	64645	broad.mit.edu	37	1	100534122	100534122	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr1:100534122delT	ENST00000370152.3	+	7	935	c.799delT	c.(799-801)tttfs	p.F268fs	RP4-714D9.2_ENST00000432294.1_RNA	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	268					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		ATATTCCAGCTTTTTTTTATA	0.388																																						ENST00000370152.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						c.(799-801)ttfs		hippocampus abundant transcript 1							119.0	117.0	118.0					1																	100534122		2203	4300	6503	SO:0001589	frameshift_variant	64645				transmembrane transport	integral to membrane|plasma membrane	transporter activity	g.chr1:100534122delT	AK096669	CCDS763.1	1p21.3	2008-02-05			ENSG00000156875	ENSG00000156875			23363	protein-coding gene	gene with protein product						9299464	Standard	NM_033055		Approved	DKFZP564L0864	uc001dst.3	Q96MC6	OTTHUMG00000010755	ENST00000370152.3:c.799delT	1.37:g.100534122delT	ENSP00000359171:p.Phe268fs					RP4-714D9.2_ENST00000432294.1_RNA	p.F268fs	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)	7	935	+		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	268					Q6P2N7|Q8N8K2|Q8NBV3|Q96NY0|Q9NT25	Frame_Shift_Del	DEL	ENST00000370152.3	37	c.799delT	CCDS763.1																																																																																				0.388	HIAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029657.1	NM_033055		7	431						7	431	---	---	---	---
SPAG17	200162	broad.mit.edu	37	1	118693199	118693199	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr1:118693199delT	ENST00000336338.5	-	3	347	c.282delA	c.(280-282)aaafs	p.K94fs		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	94						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CACCTACAGGTTTTTTTGCCT	0.254																																						ENST00000336338.5																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(280-282)aafs		sperm associated antigen 17							71.0	73.0	72.0					1																	118693199		2199	4287	6486	SO:0001589	frameshift_variant	200162					cilium|flagellar axoneme|microtubule		g.chr1:118693199delT		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.282delA	1.37:g.118693199delT	ENSP00000337804:p.Lys94fs						p.K94fs	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	3	347	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	94					Q8NAZ1|Q9NT21	Frame_Shift_Del	DEL	ENST00000336338.5	37	c.282delA	CCDS899.1																																																																																				0.254	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		7	609						7	609	---	---	---	---
SEC22B	9554	broad.mit.edu	37	1	145116147	145116148	+	RNA	INS	-	-	A	rs56026824|rs113058116	byFrequency	TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr1:145116147_145116148insA	ENST00000453618.1	+	0	1233_1234							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											AGTAGATTGTTATTTCGTTTTT	0.416													A|A|AA|insertion	2465	0.492212	0.497	0.4914	5008	,	,		69600	0.4891		0.4891	False		,,,				2504	0.4928					ENST00000453618.1																			0													SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)																																						9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145116147_145116148insA	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145116148_145116148dupA										O75396	SC22B_HUMAN			0	1233_1234	+								A8K1G0	RNA	INS	ENST00000453618.1	37																																																																																						0.416	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		2	4						2	4	---	---	---	---
ANKRD36BP2	645784	broad.mit.edu	37	2	89083945	89083946	+	RNA	INS	-	-	GC			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr2:89083945_89083946insGC	ENST00000393525.3	+	0	576									ankyrin repeat domain 36B pseudogene 2																		GTATTCCTTTTTTTTCAGTGTA	0.347																																						ENST00000393525.3																			0																																																			0							g.chr2:89083945_89083946insGC			2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89083945_89083946insGC														0	576	+									RNA	INS	ENST00000393525.3	37																																																																																						0.347	ANKRD36BP2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000323523.1			5	9						5	9	---	---	---	---
CYP20A1	57404	broad.mit.edu	37	2	204150380	204150380	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr2:204150380delA	ENST00000356079.4	+	9	1019	c.896delA	c.(895-897)caafs	p.Q299fs	CYP20A1_ENST00000429815.2_Frame_Shift_Del_p.Q307fs|CYP20A1_ENST00000461371.1_3'UTR	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	299						integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						GAAGAAGTTCAAAAAAAATTA	0.348																																						ENST00000356079.4																			0				cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						c.(895-897)cafs		cytochrome P450, family 20, subfamily A, polypeptide 1							65.0	72.0	70.0					2																	204150380		2203	4292	6495	SO:0001589	frameshift_variant	57404					integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr2:204150380delA	AK021770	CCDS2357.1	2q33	2008-02-05			ENSG00000119004	ENSG00000119004		"""Cytochrome P450s"""	20576	protein-coding gene	gene with protein product							Standard	NM_177538		Approved	CYP-M	uc002uzv.4	Q6UW02	OTTHUMG00000132854	ENST00000356079.4:c.896delA	2.37:g.204150380delA	ENSP00000348380:p.Gln299fs					CYP20A1_ENST00000429815.2_Frame_Shift_Del_p.Q307fs|CYP20A1_ENST00000461371.1_3'UTR	p.Q299fs	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN			9	1019	+			299					Q4ZG61|Q8N4Q8|Q8WWA9|Q9HC04	Frame_Shift_Del	DEL	ENST00000356079.4	37	c.896delA	CCDS2357.1																																																																																				0.348	CYP20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256328.3	NM_020674		8	337						8	337	---	---	---	---
USP4	7375	broad.mit.edu	37	3	49321969	49321971	+	In_Frame_Del	DEL	TCT	TCT	-	rs370067968		TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr3:49321969_49321971delTCT	ENST00000265560.4	-	18	2364_2366	c.2318_2320delAGA	c.(2317-2322)aagacc>acc	p.K773del	USP4_ENST00000351842.4_In_Frame_Del_p.K726del	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	773	USP.				negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		GCCACTGTGGTCTTCTTCTTCTT	0.532																																						ENST00000351842.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(2176-2181)acc>a		ubiquitin specific peptidase 4 (proto-oncogene)			,	11,4255		0,11,2122					,	3.8	0.1			132	0,8254		0,0,4127	no	coding,coding	USP4	NM_199443.2,NM_003363.3	,	0,11,6249	A1A1,A1R,RR		0.0,0.2579,0.0879	,	,		11,12509				SO:0001651	inframe_deletion	7375				negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:49321969_49321971delTCT	U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"""Ubiquitin-specific peptidases"""	12627	protein-coding gene	gene with protein product		603486	"""ubiquitin specific protease 4 (proto-oncogene)"""	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.2318_2320delAGA	3.37:g.49321978_49321980delTCT	ENSP00000265560:p.Lys773del					USP4_ENST00000265560.4_In_Frame_Del_p.KT773del	p.KT726del	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)	17	2185_2187	-		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)	773					A8K6Y0|C9IY91|O43452|O43453|Q08AK8	In_Frame_Del	DEL	ENST00000265560.4	37	c.2177_2179delAGA	CCDS2793.1																																																																																				0.532	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346069.1	NM_199443		9	607						9	607	---	---	---	---
CACNA1D	776	broad.mit.edu	37	3	53785830	53785830	+	Frame_Shift_Del	DEL	A	A	-	rs375542826		TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr3:53785830delA	ENST00000350061.5	+	28	4082	c.3571delA	c.(3571-3573)aaafs	p.K1191fs	CACNA1D_ENST00000288139.4_Frame_Shift_Del_p.K1211fs|CACNA1D_ENST00000422281.2_Frame_Shift_Del_p.K1191fs|CACNA1D_ENST00000540742.1_Frame_Shift_Del_p.K98fs	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1191					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ATACATCCCCAAAAACCCCTA	0.498																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(3631-3633)aafs		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						235.0	202.0	213.0					3																	53785830		2203	4300	6503	SO:0001589	frameshift_variant	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53785830delA	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.3571delA	3.37:g.53785830delA	ENSP00000288133:p.Lys1191fs					CACNA1D_ENST00000540742.1_Frame_Shift_Del_p.K98fs|CACNA1D_ENST00000422281.2_Frame_Shift_Del_p.K1191fs|CACNA1D_ENST00000350061.5_Frame_Shift_Del_p.K1191fs	p.K1211fs	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	29	3749	+			1191					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Frame_Shift_Del	DEL	ENST00000350061.5	37	c.3631delA	CCDS46848.1																																																																																				0.498	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		7	901						7	901	---	---	---	---
LNP1	348801	broad.mit.edu	37	3	100148586	100148588	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr3:100148586_100148588delGAT	ENST00000383693.3	+	2	1293_1295	c.13_15delGAT	c.(13-15)gatdel	p.D10del	LNP1_ENST00000489752.1_In_Frame_Del_p.D10del	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	10	Poly-Asp.									cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						GGAGCACAAAGATGATGATGATG	0.507																																						ENST00000383693.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						c.(13-15)del		leukemia NUP98 fusion partner 1																																				SO:0001651	inframe_deletion	348801							g.chr3:100148586_100148588delGAT		CCDS43120.1	3q12.2	2014-05-12			ENSG00000206535	ENSG00000206535			28014	protein-coding gene	gene with protein product						16467868	Standard	NM_001085451		Approved	NP3	uc003dtx.4	A1A4G5	OTTHUMG00000159082	ENST00000383693.3:c.13_15delGAT	3.37:g.100148595_100148597delGAT	ENSP00000373191:p.Asp10del					LNP1_ENST00000489752.1_In_Frame_Del_p.D10del	p.D10del	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN			2	1293_1295	+			10			Poly-Asp.		B7ZLT3	In_Frame_Del	DEL	ENST00000383693.3	37	c.13_15delGAT	CCDS43120.1																																																																																				0.507	LNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353232.1			10	604						10	604	---	---	---	---
ZNF80	7634	broad.mit.edu	37	3	113951738	113951739	+	IGR	INS	-	-	C	rs60004852|rs398052210|rs377674793|rs71633344	byFrequency	TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr3:113951738_113951739insC	ENST00000482457.2	-	0	2939				RP11-553L6.2_ENST00000481773.1_RNA|RP11-553L6.2_ENST00000493033.1_RNA	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				ACTGCCCCCTGCCCCCCCCCCA	0.653																																					GBM(23;986 1114 21716)	ENST00000493033.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr3:113951738_113951739insC	X65233	CCDS2979.1	3q13.31	2013-01-08	2006-05-12		ENSG00000174255	ENSG00000174255		"""Zinc fingers, C2H2-type"""	13155	protein-coding gene	gene with protein product		194553	"""zinc finger protein 80 (pT17)"""			8478004	Standard	NM_007136		Approved	pT17	uc010hqo.3	P51504	OTTHUMG00000159332		3.37:g.113951748_113951748dupC						RP11-553L6.2_ENST00000481773.1_RNA								0	160	+								Q6NSW4|Q6NT14	RNA	INS	ENST00000482457.2	37		CCDS2979.1																																																																																				0.653	ZNF80-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354696.2	NM_007136		8	9						8	9	---	---	---	---
CPHL1P	389160	broad.mit.edu	37	3	148999032	148999033	+	RNA	INS	-	-	GAA	rs397825074|rs368617671|rs10639126	byFrequency	TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr3:148999032_148999033insGAA	ENST00000482639.2	-	0	195									ceruloplasmin and hephaestin-like 1 pseudogene																		GGGAAGACACTGAACAGtaaga	0.5														2398	0.478834	0.7988	0.549	5008	,	,		18763	0.37		0.339	False		,,,				2504	0.2526					ENST00000482639.2																			0																																																			0							g.chr3:148999032_148999033insGAA			3q25.1	2010-10-13	2010-10-13	2010-10-13	ENSG00000240216	ENSG00000240216			31714	pseudogene	pseudogene			"""ceruloplasmin and hephaestin-like 1"""	CPHL1			Standard	NG_022938		Approved				OTTHUMG00000159584		3.37:g.148999033_148999035dupGAA														0	195	-									RNA	INS	ENST00000482639.2	37																																																																																						0.500	CPHL1P-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000356325.2	NG_022938		4	4						4	4	---	---	---	---
SDHAP1	255812	broad.mit.edu	37	3	195711343	195711344	+	RNA	INS	-	-	T	rs200252504	byFrequency	TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr3:195711343_195711344insT	ENST00000427841.1	-	0	585					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		AAAGACTTCTCTGTGAGCTTTG	0.381													|||unknown(ALL_OTHER_Ns)	3992	0.797125	0.888	0.8112	5008	,	,		14038	0.8571		0.6809	False		,,,				2504	0.7219				Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195711343_195711344insT	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195711344_195711344dupT								NR_003264.2						0	585	-									RNA	INS	ENST00000427841.1	37																																																																																						0.381	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			4	7						4	7	---	---	---	---
TBC1D1	23216	broad.mit.edu	37	4	38020014	38020014	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr4:38020014delA	ENST00000261439.4	+	4	1277	c.922delA	c.(922-924)aaafs	p.K309fs	TBC1D1_ENST00000508802.1_Frame_Shift_Del_p.K309fs	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	309	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TCCTGACACCAAAAAAATAGC	0.313																																						ENST00000261439.4																			0				NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						c.(922-924)aafs		TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1							68.0	72.0	70.0					4																	38020014		2203	4298	6501	SO:0001589	frameshift_variant	23216					nucleus	Rab GTPase activator activity	g.chr4:38020014delA	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.922delA	4.37:g.38020014delA	ENSP00000261439:p.Lys309fs					TBC1D1_ENST00000508802.1_Frame_Shift_Del_p.K309fs	p.K309fs	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN			4	1277	+			309			PID.		B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Frame_Shift_Del	DEL	ENST00000261439.4	37	c.922delA	CCDS33972.1																																																																																				0.313	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173		7	411						7	411	---	---	---	---
C6	729	broad.mit.edu	37	5	41160299	41160300	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr5:41160299_41160300delAC	ENST00000263413.3	-	11	1892_1893	c.1628_1629delGT	c.(1627-1629)tgtfs	p.C543fs	C6_ENST00000475349.1_5'Flank|C6_ENST00000337836.5_Frame_Shift_Del_p.C543fs	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	543	EGF-like.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TGCCACTCTGACACACACACAG	0.475																																						ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(1627-1629)tfs		complement component 6																																				SO:0001589	frameshift_variant	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41160299_41160300delAC	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.1628_1629delGT	5.37:g.41160307_41160308delAC	ENSP00000263413:p.Cys543fs					C6_ENST00000337836.5_Frame_Shift_Del_p.C543fs	p.C543fs	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN			11	1892_1893	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	543			EGF-like.			Frame_Shift_Del	DEL	ENST00000263413.3	37	c.1628_1629delGT	CCDS3936.1																																																																																				0.475	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			7	657						7	657	---	---	---	---
CSNK1G3	1456	broad.mit.edu	37	5	122881495	122881495	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr5:122881495delA	ENST00000361991.2	+	1	168	c.138delA	c.(136-138)ggafs	p.G46fs	CSNK1G3_ENST00000360683.2_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000508708.1_3'UTR|CSNK1G3_ENST00000511130.2_Intron|CSNK1G3_ENST00000521364.1_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000395412.1_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000512718.3_Intron|CSNK1G3_ENST00000510842.2_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000395411.1_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000345990.4_Frame_Shift_Del_p.G46fs			Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	46	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein modification process (GO:0006464)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		TTAGAGTTGGAAAAAAAATTG	0.363																																					Pancreas(187;2868 2964 4353 6297)	ENST00000395412.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15						c.(136-138)ggfs		casein kinase 1, gamma 3							102.0	101.0	101.0					5																	122881495		2203	4300	6503	SO:0001589	frameshift_variant	1456				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr5:122881495delA	AF049090	CCDS4135.1, CCDS34218.1, CCDS43355.1, CCDS59491.1, CCDS59492.1, CCDS59493.1	5q23	2013-01-17			ENSG00000151292	ENSG00000151292			2456	protein-coding gene	gene with protein product		604253				9925945	Standard	NM_004384		Approved		uc031skv.1	Q9Y6M4	OTTHUMG00000128923	ENST00000361991.2:c.138delA	5.37:g.122881495delA	ENSP00000354942:p.Gly46fs					CSNK1G3_ENST00000508708.1_3'UTR|CSNK1G3_ENST00000521364.1_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000395411.1_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000512718.3_Intron|CSNK1G3_ENST00000511130.2_Intron|CSNK1G3_ENST00000361991.2_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000510842.2_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000345990.4_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000360683.2_Frame_Shift_Del_p.G46fs	p.G46fs	NM_001044723.1	NP_001038188.1	Q9Y6M4	KC1G3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)	2	857	+		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	46			Protein kinase.		A8K040|B4DSH2|B7Z9Q4|E7EVD0|Q86WZ7|Q9Y6M3	Frame_Shift_Del	DEL	ENST00000361991.2	37	c.138delA	CCDS4135.1																																																																																				0.363	CSNK1G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250900.1	NM_004384		7	683						7	683	---	---	---	---
MEGF10	84466	broad.mit.edu	37	5	126792989	126792991	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr5:126792989_126792991delCAG	ENST00000274473.6	+	26	3669_3671	c.3402_3404delCAG	c.(3400-3405)aacagc>aac	p.S1139del	MEGF10_ENST00000503335.2_In_Frame_Del_p.S1139del	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	1139	Necessary for formation of large intracellular vacuoles.|Ser-rich.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		gcagcagcaacagcagcagcagc	0.512																																						ENST00000274473.6																			0				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(3400-3405)aac>aa		multiple EGF-like-domains 10																																				SO:0001651	inframe_deletion	84466				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		g.chr5:126792989_126792991delCAG	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.3402_3404delCAG	5.37:g.126792998_126793000delCAG	ENSP00000274473:p.Ser1139del					MEGF10_ENST00000503335.2_In_Frame_Del_p.NS1134del	p.NS1134del	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	26	3669_3671	+		Prostate(80;0.165)	1134			Necessary for formation of large intracellular vacuoles.|Ser-rich.		Q68DE5|Q8WUL3	In_Frame_Del	DEL	ENST00000274473.6	37	c.3402_3404delCAG	CCDS4142.1																																																																																				0.512	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		7	288						7	288	---	---	---	---
TYW1B	441250	broad.mit.edu	37	7	72040750	72040751	+	RNA	INS	-	-	A			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr7:72040750_72040751insA	ENST00000435769.2	-	0	1909				TYW1B_ENST00000343721.5_RNA|TYW1B_ENST00000438125.1_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										AACATCCCTAGAAAAAAAAAAT	0.332																																						ENST00000438125.1																			0													tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)																																						441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72040750_72040751insA	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"""radical S-adenosyl methionine and flavodoxin domains 1"", ""non-protein coding RNA 69"", ""long intergenic non-protein coding RNA 69"""		"""tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"""				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72040760_72040760dupA										Q6NUM6	TYW1B_HUMAN			0	1399	-								A6NG09|B4DFY2|Q3KQX2	RNA	INS	ENST00000435769.2	37																																																																																						0.332	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		7	171						7	171	---	---	---	---
DNAJC2	27000	broad.mit.edu	37	7	102964992	102964992	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr7:102964992delT	ENST00000379263.3	-	6	840	c.590delA	c.(589-591)aatfs	p.N197fs	DNAJC2_ENST00000249270.7_Frame_Shift_Del_p.N197fs|PMPCB_ENST00000420236.2_Intron	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	197	ZRF1-UBD.				'de novo' cotranslational protein folding (GO:0051083)|chromatin modification (GO:0016568)|DNA replication (GO:0006260)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|Hsp70 protein binding (GO:0030544)|poly(A) RNA binding (GO:0044822)|ubiquitin binding (GO:0043130)			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						TTTAGGAACATTTTTTTTATT	0.239																																						ENST00000379263.3																			0				endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						c.(589-591)atfs		DnaJ (Hsp40) homolog, subfamily C, member 2							54.0	54.0	54.0					7																	102964992		1782	4027	5809	SO:0001589	frameshift_variant	27000				'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding	g.chr7:102964992delT	X98260	CCDS43628.1, CCDS47679.1	7q22-q32	2011-09-02	2008-07-01	2008-07-01	ENSG00000105821	ENSG00000105821		"""Heat shock proteins / DNAJ (HSP40)"""	13192	protein-coding gene	gene with protein product		605502	"""zuotin related factor 1"""	ZRF1		8885239	Standard	NM_001129887		Approved	MPP11, MPHOSPH11, ZUO1, zuotin	uc003vbo.3	Q99543	OTTHUMG00000157202	ENST00000379263.3:c.590delA	7.37:g.102964992delT	ENSP00000368565:p.Asn197fs					PMPCB_ENST00000420236.2_Intron|DNAJC2_ENST00000249270.7_Frame_Shift_Del_p.N197fs	p.N197fs	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN			6	840	-			197			ZRF1-UBD.		A4VCI0|Q9BVX1	Frame_Shift_Del	DEL	ENST00000379263.3	37	c.590delA	CCDS43628.1																																																																																				0.239	DNAJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347891.1			8	857						8	857	---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149526674	149526675	+	RNA	DEL	CT	CT	-	rs148608951	byFrequency	TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr7:149526674_149526675delCT	ENST00000378016.2	+	0	15142							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ccacagtcccctcagtcccctc	0.653														223	0.0445288	0.1483	0.0159	5008	,	,		9753	0.0		0.005	False		,,,				2504	0.0112					ENST00000378016.2																			0													SCO-spondin																																						23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149526674_149526675delCT	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149526674_149526675delCT										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	15142	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	DEL	ENST00000378016.2	37																																																																																						0.653	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				5	9						5	9	---	---	---	---
TOX	9760	broad.mit.edu	37	8	59750796	59750798	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr8:59750796_59750798delCTT	ENST00000361421.1	-	5	986_988	c.766_768delAAG	c.(766-768)aagdel	p.K256del		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	256						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				CATTGGGATCCTTCTTCTTCTTC	0.453																																					Pancreas(161;610 1969 17913 21374 22725)	ENST00000361421.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33						c.(766-768)del		thymocyte selection-associated high mobility group box																																				SO:0001651	inframe_deletion	9760					nucleus	DNA binding	g.chr8:59750796_59750798delCTT		CCDS34897.1	8q12.2-q12.3	2009-04-17			ENSG00000198846	ENSG00000198846			18988	protein-coding gene	gene with protein product		606863				9872452, 11850626	Standard	NM_014729		Approved	KIAA0808, TOX1	uc003xtw.1	O94900	OTTHUMG00000164331	ENST00000361421.1:c.766_768delAAG	8.37:g.59750805_59750807delCTT	ENSP00000354842:p.Lys256del						p.K256del	NM_014729.2	NP_055544.1	O94900	TOX_HUMAN			5	986_988	-		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)	256					Q96AV5	In_Frame_Del	DEL	ENST00000361421.1	37	c.766_768delAAG	CCDS34897.1																																																																																				0.453	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378307.1	NM_014729		10	476						10	476	---	---	---	---
TAF1L	138474	broad.mit.edu	37	9	32633584	32633584	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr9:32633584delT	ENST00000242310.4	-	1	2083	c.1994delA	c.(1993-1995)aagfs	p.K665fs	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	665					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.K665fs*4(2)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CATCTTGGCCTTTTTTTTGAT	0.478																																						ENST00000242310.4																			2	Deletion - Frameshift(2)	p.K665fs*4(2)	large_intestine(2)	breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(1993-1995)agfs		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							151.0	142.0	145.0					9																	32633584		2203	4300	6503	SO:0001589	frameshift_variant	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32633584delT	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.1994delA	9.37:g.32633584delT	ENSP00000418379:p.Lys665fs					RP11-555J4.4_ENST00000430787.1_RNA	p.K665fs	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	2083	-			665					Q0VG57	Frame_Shift_Del	DEL	ENST00000242310.4	37	c.1994delA	CCDS35003.1																																																																																				0.478	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			11	681						11	681	---	---	---	---
ASTN2	23245	broad.mit.edu	37	9	119976989	119976991	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr9:119976989_119976991delCAG	ENST00000313400.4	-	3	761_763	c.661_663delCTG	c.(661-663)ctgdel	p.L221del	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del|ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del			O75129	ASTN2_HUMAN	astrotactin 2	221					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CGGTGAACACCAGCAGCAGCAGC	0.601																																						ENST00000313400.4																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(661-663)del		astrotactin 2																																				SO:0001651	inframe_deletion	23245					integral to membrane		g.chr9:119976989_119976991delCAG	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.661_663delCTG	9.37:g.119976998_119977000delCAG	ENSP00000314038:p.Leu221del					ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del|ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del	p.L221del			O75129	ASTN2_HUMAN			3	761_763	-			221					A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	In_Frame_Del	DEL	ENST00000313400.4	37	c.661_663delCTG																																																																																					0.601	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		8	273						8	273	---	---	---	---
ANK3	288	broad.mit.edu	37	10	61828727	61828729	+	In_Frame_Del	DEL	GTG	GTG	-	rs368539157		TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr10:61828727_61828729delGTG	ENST00000280772.2	-	37	12101_12103	c.11910_11912delCAC	c.(11908-11913)accact>act	p.3970_3971TT>T	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3970	Thr-rich.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						agtggtggtagtggtggtggtgg	0.468																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(11908-11913)act>ac		ankyrin 3, node of Ranvier (ankyrin G)																																				SO:0001651	inframe_deletion	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61828727_61828729delGTG	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.11910_11912delCAC	10.37:g.61828736_61828738delGTG	ENSP00000280772:p.Thr3978del					ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	p.TT3976del	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	12101_12103	-			3976			Thr-rich.		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	In_Frame_Del	DEL	ENST00000280772.2	37	c.11910_11912delCAC	CCDS7258.1																																																																																				0.468	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		7	376						7	376	---	---	---	---
SMARCC2	6601	broad.mit.edu	37	12	56558379	56558381	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr12:56558379_56558381delAGG	ENST00000267064.4	-	27	3360_3362	c.3274_3276delCCT	c.(3274-3276)cctdel	p.P1092del	SMARCC2_ENST00000394023.3_Intron|SMARCC2_ENST00000550164.1_In_Frame_Del_p.P1123del|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Intron	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1092	Pro-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TGGATGGAGCAGGAGGAGGAGGA	0.591																																						ENST00000550164.1																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41						c.(3367-3369)del		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2																																				SO:0001651	inframe_deletion	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56558379_56558381delAGG	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.3274_3276delCCT	12.37:g.56558388_56558390delAGG	ENSP00000267064:p.Pro1092del					RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000394023.3_Intron|SMARCC2_ENST00000267064.4_In_Frame_Del_p.P1092del|SMARCC2_ENST00000347471.4_Intron	p.P1123del			Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		28	3381_3383	-			1092	HGHHHHLPFA -> MGSPPSPVR (in Ref. 1; AAC50694).		Pro-rich.		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	In_Frame_Del	DEL	ENST00000267064.4	37	c.3367_3369delCCT	CCDS8907.1																																																																																				0.591	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			8	193						8	193	---	---	---	---
PPTC7	160760	broad.mit.edu	37	12	111020740	111020742	+	In_Frame_Del	DEL	CGC	CGC	-	rs151075597	byFrequency	TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr12:111020740_111020742delCGC	ENST00000354300.3	-	1	383_385	c.95_97delGCG	c.(94-99)ggcgac>gac	p.G32del		NM_139283.1	NP_644812.1	Q8NI37	PPTC7_HUMAN	PTC7 protein phosphatase homolog (S. cerevisiae)	32	Gly-rich.					mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(1)|large_intestine(2)|lung(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	9						AGTCCGTAGTcgccgccgccgcc	0.739														302	0.0603035	0.0719	0.1254	5008	,	,		10517	0.001		0.0924	False		,,,				2504	0.0266					ENST00000354300.3																			0				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	9						c.(94-99)gac>g		PTC7 protein phosphatase homolog (S. cerevisiae)				149,1205		60,29,588						4.1	1.0		dbSNP_126	4	388,2704		139,110,1297	no	coding	PPTC7	NM_139283.1		199,139,1885	A1A1,A1R,RR		12.5485,11.0044,12.0783				537,3909				SO:0001651	inframe_deletion	160760						metal ion binding|phosphoprotein phosphatase activity	g.chr12:111020740_111020742delCGC	AF385435	CCDS9149.1	12q24.11	2009-11-05				ENSG00000196850			30695	protein-coding gene	gene with protein product	"""T cell activation protein phosphatase 2C"""	609668				15177553	Standard	NM_139283		Approved	TA-PP2C	uc001trh.1	Q8NI37	OTTHUMG00000169529	ENST00000354300.3:c.95_97delGCG	12.37:g.111020749_111020751delCGC	ENSP00000346255:p.Gly32del						p.GD32del	NM_139283.1	NP_644812.1	Q8NI37	PPTC7_HUMAN			1	383_385	-			32			Gly-rich.		B3KWC5|Q68DZ7|Q6UY82	In_Frame_Del	DEL	ENST00000354300.3	37	c.95_97delGCG	CCDS9149.1																																																																																				0.739	PPTC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404635.1	NM_139283		6	9						6	9	---	---	---	---
NOS1	4842	broad.mit.edu	37	12	117655862	117655862	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr12:117655862delT	ENST00000338101.4	-	28	4384	c.4380delA	c.(4378-4380)aaafs	p.K1460fs	NOS1_ENST00000317775.6_Frame_Shift_Del_p.K1426fs|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		CATCGGTGTCTTTTTTGCTCT	0.532																																					Esophageal Squamous(162;1748 2599 51982 52956)	ENST00000317775.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(4276-4278)aafs		nitric oxide synthase 1 (neuronal)	L-Citrulline(DB00155)						230.0	232.0	231.0					12																	117655862		2002	4171	6173	SO:0001589	frameshift_variant	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117655862delT		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.4380delA	12.37:g.117655862delT	ENSP00000337459:p.Lys1460fs					NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Frame_Shift_Del_p.K1460fs	p.K1426fs	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	28	4963	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1426						Frame_Shift_Del	DEL	ENST00000338101.4	37	c.4278delA	CCDS55890.1																																																																																				0.532	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			8	1289						8	1289	---	---	---	---
TPTE2P1	646405	broad.mit.edu	37	13	25517702	25517702	+	RNA	DEL	T	T	-			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr13:25517702delT	ENST00000429698.1	-	0	374							Q5T6R2	TPT2L_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 1																		CCATTTGCTATTTTTTTTTCT	0.423																																						ENST00000429698.1																			0																																																			0							g.chr13:25517702delT			13q12.12-q12.13	2012-10-03			ENSG00000253771	ENSG00000253771			35196	pseudogene	pseudogene							Standard	NR_026730		Approved		uc010tdh.2	Q5T6R2	OTTHUMG00000016596		13.37:g.25517702delT														0	374	-								B3KST4|B4DMH9	RNA	DEL	ENST00000429698.1	37																																																																																						0.423	TPTE2P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000044206.1			8	401						8	401	---	---	---	---
RBM26	64062	broad.mit.edu	37	13	79918806	79918807	+	Frame_Shift_Ins	INS	-	-	T			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr13:79918806_79918807insT	ENST00000438737.2	-	15	2621_2622	c.2181_2182insA	c.(2179-2184)aaacagfs	p.Q728fs	RBM26_ENST00000267229.7_Frame_Shift_Ins_p.Q701fs|RBM26_ENST00000438724.1_Frame_Shift_Ins_p.Q704fs			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	728					mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		GTACTTACCTGTTTTTTTTTCT	0.332																																						ENST00000438737.2																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						c.(2179-2184)aaaggafs		RNA binding motif protein 26																																				SO:0001589	frameshift_variant	64062				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr13:79918806_79918807insT	AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	20327	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 2"", ""protein phosphatase 1, regulatory 132"""		"""chromosome 13 open reading frame 10"""	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.2182dupA	13.37:g.79918815_79918815dupT	ENSP00000387531:p.Gln728fs					RBM26_ENST00000267229.7_Frame_Shift_Ins_p.G701fs|RBM26_ENST00000438724.1_Frame_Shift_Ins_p.G704fs	p.G728fs			Q5T8P6	RBM26_HUMAN		GBM - Glioblastoma multiforme(99;0.0188)	15	2621_2622	-		Acute lymphoblastic leukemia(28;0.0279)	728					B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Frame_Shift_Ins	INS	ENST00000438737.2	37	c.2181_2182insA																																																																																					0.332	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045373.4	NM_022118		11	305						11	305	---	---	---	---
CHD8	57680	broad.mit.edu	37	14	21884031	21884031	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr14:21884031delT	ENST00000557364.1	-	6	2015	c.1752delA	c.(1750-1752)aaafs	p.K584fs	CHD8_ENST00000399982.2_Frame_Shift_Del_p.K584fs|CHD8_ENST00000430710.3_Frame_Shift_Del_p.K305fs|CHD8_ENST00000555962.1_Intron			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	584					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CCTCTGTATATTTTTTTCGCT	0.398																																						ENST00000399982.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(1750-1752)aafs		chromodomain helicase DNA binding protein 8							202.0	190.0	194.0					14																	21884031		1845	4090	5935	SO:0001589	frameshift_variant	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21884031delT	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.1752delA	14.37:g.21884031delT	ENSP00000451601:p.Lys584fs					CHD8_ENST00000557364.1_Frame_Shift_Del_p.K584fs|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Frame_Shift_Del_p.K305fs	p.K584fs	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	5	1816	-	all_cancers(95;0.00121)		584					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Frame_Shift_Del	DEL	ENST00000557364.1	37	c.1752delA	CCDS53885.1																																																																																				0.398	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		8	757						8	757	---	---	---	---
PSMA6	5687	broad.mit.edu	37	14	35782215	35782216	+	Frame_Shift_Ins	INS	-	-	A			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr14:35782215_35782216insA	ENST00000261479.4	+	5	658_659	c.538_539insA	c.(538-540)gaafs	p.E180fs	KIAA0391_ENST00000557565.1_3'UTR|PSMA6_ENST00000540871.1_Frame_Shift_Ins_p.E161fs|PSMA6_ENST00000556506.1_Frame_Shift_Ins_p.E180fs|PSMA6_ENST00000553809.1_Frame_Shift_Ins_p.E186fs|PSMA6_ENST00000555764.1_Frame_Shift_Ins_p.E101fs	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	180					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of inflammatory response (GO:0050727)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|myofibril (GO:0030016)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysome (GO:0005844)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)|sarcomere (GO:0030017)	endopeptidase activity (GO:0004175)|NF-kappaB binding (GO:0051059)|purine ribonucleoside triphosphate binding (GO:0035639)|RNA binding (GO:0003723)|threonine-type endopeptidase activity (GO:0004298)			kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		CAGCTTCCTTGAAAAAAAAGTG	0.406																																						ENST00000261479.4																			0				kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10						c.(538-540)aaafs		proteasome (prosome, macropain) subunit, alpha type, 6																																				SO:0001589	frameshift_variant	5687				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity	g.chr14:35782215_35782216insA	X59417	CCDS9655.1, CCDS61437.1, CCDS61438.1	14q13	2003-03-12			ENSG00000100902	ENSG00000100902		"""Proteasome (prosome, macropain) subunits"""	9535	protein-coding gene	gene with protein product		602855				1888762, 8811196	Standard	NM_002791		Approved	IOTA, PROS27, p27K, MGC22756, MGC2333, MGC23846	uc001wtd.3	P60900	OTTHUMG00000140221	ENST00000261479.4:c.546dupA	14.37:g.35782223_35782223dupA	ENSP00000261479:p.Glu180fs					PSMA6_ENST00000540871.1_Frame_Shift_Ins_p.K161fs|KIAA0391_ENST00000557565.1_3'UTR|PSMA6_ENST00000556506.1_Frame_Shift_Ins_p.K180fs|PSMA6_ENST00000553809.1_Frame_Shift_Ins_p.K186fs|PSMA6_ENST00000555764.1_Frame_Shift_Ins_p.K101fs	p.K180fs	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)	5	658_659	+	Breast(36;0.0519)|Hepatocellular(127;0.158)		180					B2R7J9|B4DQR4|B4DXJ9|P34062|Q6IB60	Frame_Shift_Ins	INS	ENST00000261479.4	37	c.538_539insA	CCDS9655.1																																																																																				0.406	PSMA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276684.1			8	812						8	812	---	---	---	---
GPR65	8477	broad.mit.edu	37	14	88477554	88477555	+	Frame_Shift_Ins	INS	-	-	T			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr14:88477554_88477555insT	ENST00000267549.3	+	2	921_922	c.363_364insT	c.(364-366)tttfs	p.F122fs	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	122					actin cytoskeleton reorganization (GO:0031532)|activation of Rho GTPase activity (GO:0032862)|apoptotic process (GO:0006915)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of stress fiber assembly (GO:0051496)|response to acidic pH (GO:0010447)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						ACCCTTTGAAGTTTTTTTTCCT	0.426																																						ENST00000267549.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						c.(361-366)aattttfs		G protein-coupled receptor 65																																				SO:0001589	frameshift_variant	0				actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity	g.chr14:88477554_88477555insT	U95218	CCDS9879.1	14q31-q32.1	2012-08-21			ENSG00000140030	ENSG00000140030		"""GPCR / Class A : Orphans"""	4517	protein-coding gene	gene with protein product		604620				9655242	Standard	NM_003608		Approved	hTDAG8, TDAG8	uc001xvv.3	Q8IYL9	OTTHUMG00000028648	ENST00000267549.3:c.371dupT	14.37:g.88477562_88477562dupT	ENSP00000267549:p.Phe122fs					RP11-300J18.2_ENST00000554433.1_RNA	p.NF121fs	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN			2	921_922	+			121					O75819	Frame_Shift_Ins	INS	ENST00000267549.3	37	c.363_364insT	CCDS9879.1																																																																																				0.426	GPR65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071564.4			8	1210						8	1210	---	---	---	---
IREB2	3658	broad.mit.edu	37	15	78755395	78755395	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr15:78755395delT	ENST00000258886.8	+	3	387	c.238delT	c.(238-240)tttfs	p.F81fs	IREB2_ENST00000560440.1_Frame_Shift_Del_p.F81fs	NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	81					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		TGAAGTGCCCTTTTTCCCTGC	0.358																																					NSCLC(200;764 2208 35157 49871 50830)	ENST00000258886.8																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						c.(238-240)ttfs		iron-responsive element binding protein 2							227.0	211.0	216.0					15																	78755395		2196	4293	6489	SO:0001589	frameshift_variant	3658						4 iron, 4 sulfur cluster binding|metal ion binding|protein binding	g.chr15:78755395delT	M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.238delT	15.37:g.78755395delT	ENSP00000258886:p.Phe81fs					IREB2_ENST00000560440.1_Frame_Shift_Del_p.F81fs	p.F81fs	NM_004136.2	NP_004127.1	P48200	IREB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (272;0.232)	3	387	+			81					A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Frame_Shift_Del	DEL	ENST00000258886.8	37	c.238delT	CCDS10302.1																																																																																				0.358	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290109.3	NM_004136		9	1439						9	1439	---	---	---	---
ZFP90	146198	broad.mit.edu	37	16	68598462	68598463	+	Frame_Shift_Ins	INS	-	-	A	rs543784734		TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr16:68598462_68598463insA	ENST00000570495.1	+	5	2064_2065	c.1772_1773insA	c.(1771-1776)cgaaaafs	p.RK591fs	ZFP90_ENST00000563169.2_Frame_Shift_Ins_p.RK591fs|ZFP90_ENST00000398253.2_Frame_Shift_Ins_p.RK591fs			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	591					negative regulation of DNA binding (GO:0043392)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		AGAGCCTTCCGAAAAAAAACCA	0.411																																						ENST00000570495.1																			0				breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(1771-1773)caafs		ZFP90 zinc finger protein																																				SO:0001589	frameshift_variant	146198				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:68598462_68598463insA	AK074332	CCDS42183.1	16q22.1	2013-01-08	2012-11-27			ENSG00000184939		"""Zinc fingers, C2H2-type"", ""-"""	23329	protein-coding gene	gene with protein product		609451	"""zinc finger protein 90 homolog (mouse)"""			7576184	Standard	NM_133458		Approved	KIAA1954, NK10, ZNF756	uc002ewc.3	Q8TF47		ENST00000570495.1:c.1780dupA	16.37:g.68598470_68598470dupA	ENSP00000460547:p.Arg591fs					ZFP90_ENST00000398253.2_Frame_Shift_Ins_p.Q591fs|RP11-615I2.7_ENST00000571720.1_RNA|ZFP90_ENST00000563169.2_Frame_Shift_Ins_p.Q591fs	p.Q591fs			Q8TF47	ZFP90_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)	5	2064_2065	+		Ovarian(137;0.192)	591					B2RU00|B3KVE7|Q49AD1|Q96MQ6	Frame_Shift_Ins	INS	ENST00000570495.1	37	c.1772_1773insA	CCDS42183.1																																																																																				0.411	ZFP90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436217.3	XM_085375		7	660						7	660	---	---	---	---
MYOCD	93649	broad.mit.edu	37	17	12647692	12647694	+	In_Frame_Del	DEL	CAG	CAG	-	rs536181176	byFrequency	TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr17:12647692_12647694delCAG	ENST00000343344.4	+	8	910_912	c.910_912delCAG	c.(910-912)cagdel	p.Q310del	AC005358.1_ENST00000609971.1_In_Frame_Del_p.Q214del|MYOCD_ENST00000395988.1_3'UTR|MYOCD_ENST00000425538.1_In_Frame_Del_p.Q310del			Q8IZQ8	MYCD_HUMAN	myocardin	310	Gln-rich.				cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AATCCTCAGCcagcagcagcagc	0.596														27	0.00539137	0.0098	0.0029	5008	,	,		19180	0.001		0.001	False		,,,				2504	0.0102					ENST00000425538.1																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70						c.(910-912)del		myocardin			,,	189,4075		0,189,1943					,,	3.1	1.0			38	472,7780		2,468,3656	no	coding,coding,coding	MYOCD	NM_153604.2,NM_001146313.1,NM_001146312.1	,,	2,657,5599	A1A1,A1R,RR		5.7198,4.4325,5.2812	,,	,,		661,11855				SO:0001651	inframe_deletion	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12647692_12647694delCAG	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.910_912delCAG	17.37:g.12647701_12647703delCAG	ENSP00000341835:p.Gln310del					MYOCD_ENST00000343344.4_In_Frame_Del_p.Q310del|MYOCD_ENST00000395988.1_In_Frame_Del_p.Q214del	p.Q310del	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	8	1110_1112	+			310			Gln-rich.		Q5UBU5|Q8N7Q1	In_Frame_Del	DEL	ENST00000343344.4	37	c.910_912delCAG	CCDS11163.1																																																																																				0.596	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		7	165						7	165	---	---	---	---
FLJ35934	400579	broad.mit.edu	37	17	18314933	18314934	+	lincRNA	INS	-	-	T			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr17:18314933_18314934insT	ENST00000577684.1	+	0	461_462																											ccatcgccttcttcccaccctc	0.559																																						ENST00000577684.1																			0																																																			0							g.chr17:18314933_18314934insT																													17.37:g.18314935_18314935dupT														0	461_462	+									RNA	INS	ENST00000577684.1	37																																																																																						0.559	RP1-37N7.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000447480.1			2	4						2	4	---	---	---	---
CCDC43	124808	broad.mit.edu	37	17	42756253	42756253	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr17:42756253delT	ENST00000315286.8	-	5	654	c.646delA	c.(646-648)aggfs	p.R216fs	CCDC43_ENST00000457422.2_3'UTR|C17orf104_ENST00000588805.1_Intron|CCDC43_ENST00000588210.1_Frame_Shift_Del_p.R219fs|RP11-1072C15.4_ENST00000591628.1_RNA	NM_144609.2	NP_653210.2	Q96MW1	CCD43_HUMAN	coiled-coil domain containing 43	216										lung(2)	2		Prostate(33;0.0322)				CTCTGTGTCCTTTTTTTTTCC	0.463																																						ENST00000315286.8																			0				lung(2)	2						c.(646-648)ggfs		coiled-coil domain containing 43							93.0	95.0	94.0					17																	42756253		1934	4131	6065	SO:0001589	frameshift_variant	124808							g.chr17:42756253delT	AK056357	CCDS45704.1, CCDS45705.1	17q21.31	2005-12-16							26472	protein-coding gene	gene with protein product						12477932	Standard	NM_001099225		Approved	FLJ31795	uc002ihc.2	Q96MW1		ENST00000315286.8:c.646delA	17.37:g.42756253delT	ENSP00000323782:p.Arg216fs					C17orf104_ENST00000588805.1_Intron|CCDC43_ENST00000588210.1_Frame_Shift_Del_p.R219fs|CCDC43_ENST00000457422.2_3'UTR	p.R216fs	NM_144609.2	NP_653210.2	Q96MW1	CCD43_HUMAN			5	654	-		Prostate(33;0.0322)	216					C9JVK9	Frame_Shift_Del	DEL	ENST00000315286.8	37	c.646delA	CCDS45704.1																																																																																				0.463	CCDC43-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457812.1	NM_144609		7	191						7	191	---	---	---	---
LOC339192	339192	broad.mit.edu	37	17	43274945	43274946	+	RNA	INS	-	-	A	rs371204695|rs577575526	byFrequency	TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr17:43274945_43274946insA	ENST00000586376.1	-	0	604																											GCCTGTAgaggaggaggaggag	0.604																																						ENST00000586376.1																			0																																																			0							g.chr17:43274945_43274946insA																													17.37:g.43274946_43274946dupA														0	604	-									RNA	INS	ENST00000586376.1	37																																																																																						0.604	CTD-2020K17.1-005	KNOWN	basic	antisense	antisense	OTTHUMT00000450191.1			2	4						2	4	---	---	---	---
CTD-2532D12.4	0	broad.mit.edu	37	17	71739871	71739872	+	lincRNA	INS	-	-	CCC	rs386386594|rs57987089|rs397826885|rs2683181	byFrequency	TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr17:71739871_71739872insCCC	ENST00000583854.1	+	0	166																											cccctcctcctcctcttctttc	0.5																																						ENST00000583854.1																			0																																																			0							g.chr17:71739871_71739872insCCC																													17.37:g.71739871_71739872insCCC														0	166	+									RNA	INS	ENST00000583854.1	37																																																																																						0.500	CTD-2532D12.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000442072.1			3	4						3	4	---	---	---	---
CBX8	57332	broad.mit.edu	37	17	77768449	77768449	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr17:77768449delA	ENST00000269385.4	-	5	1272	c.1155delT	c.(1153-1155)tttfs	p.F385fs	CBX8_ENST00000485449.1_5'Flank	NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	385					histone ubiquitination (GO:0016574)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	methylated histone binding (GO:0035064)|single-stranded RNA binding (GO:0003727)|ubiquitin-protein transferase activity (GO:0004842)	p.D381fs*>5(1)|p.F385fs*>5(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TTTTCTCTTTAAAAAAGCCTT	0.502																																						ENST00000269385.4																			2	Deletion - Frameshift(2)	p.D381fs*>5(1)|p.F385fs*>5(1)	large_intestine(1)|stomach(1)	breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14						c.(1153-1155)ttfs		chromobox homolog 8							157.0	173.0	168.0					17																	77768449		2203	4300	6503	SO:0001589	frameshift_variant	57332				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex	methylated histone residue binding	g.chr17:77768449delA	AF174482	CCDS11765.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141570	ENSG00000141570			15962	protein-coding gene	gene with protein product	"""polycomb 3"", ""Pc class 3 homolog (Drosophila)"""		"""chromobox homolog 8 (Drosophila Pc class)"""			10825164	Standard	NM_020649		Approved	RC1, HPC3, PC3	uc002jxd.2	Q9HC52	OTTHUMG00000150416	ENST00000269385.4:c.1155delT	17.37:g.77768449delA	ENSP00000269385:p.Phe385fs						p.F385fs	NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	1272	-			385					Q96H39|Q9NR07	Frame_Shift_Del	DEL	ENST00000269385.4	37	c.1155delT	CCDS11765.1																																																																																				0.502	CBX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318011.1	NM_020649		7	2021						7	2021	---	---	---	---
LAMA1	284217	broad.mit.edu	37	18	7038885	7038885	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr18:7038885delT	ENST00000389658.3	-	11	1580	c.1487delA	c.(1486-1488)aacfs	p.N496fs		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	496	Laminin EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GCCCCGGGGGTTTTTTTCCTT	0.532																																						ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(1486-1488)acfs		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						81.0	95.0	90.0					18																	7038885		2203	4300	6503	SO:0001589	frameshift_variant	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7038885delT	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.1487delA	18.37:g.7038885delT	ENSP00000374309:p.Asn496fs						p.N496fs	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			11	1580	-		Colorectal(10;0.172)	496			Laminin EGF-like 4.			Frame_Shift_Del	DEL	ENST00000389658.3	37	c.1487delA	CCDS32787.1																																																																																				0.532	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		7	725						7	725	---	---	---	---
CNKSR2	22866	broad.mit.edu	37	X	21627678	21627680	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chrX:21627678_21627680delGAG	ENST00000379510.3	+	20	2671_2673	c.2635_2637delGAG	c.(2635-2637)gagdel	p.E886del	CNKSR2_ENST00000543067.1_In_Frame_Del_p.E837del|CNKSR2_ENST00000425654.2_In_Frame_Del_p.E856del|CNKSR2_ENST00000279451.4_In_Frame_Del_p.E886del	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	886	Poly-Glu.				regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						ggtggaggaagaggaggaggagg	0.517																																						ENST00000425654.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						c.(2545-2547)del		connector enhancer of kinase suppressor of Ras 2																																				SO:0001651	inframe_deletion	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21627678_21627680delGAG	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.2635_2637delGAG	X.37:g.21627687_21627689delGAG	ENSP00000368824:p.Glu886del					CNKSR2_ENST00000543067.1_In_Frame_Del_p.E837del|CNKSR2_ENST00000279451.4_In_Frame_Del_p.E886del|CNKSR2_ENST00000379510.3_In_Frame_Del_p.E886del	p.E856del	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN			19	3025_3027	+			886					B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	In_Frame_Del	DEL	ENST00000379510.3	37	c.2545_2547delGAG	CCDS14198.1																																																																																				0.517	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		8	186						8	186	---	---	---	---
MAP7D3	79649	broad.mit.edu	37	X	135314194	135314194	+	Frame_Shift_Del	DEL	G	G	-			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chrX:135314194delG	ENST00000316077.9	-	8	1142	c.922delC	c.(922-924)cagfs	p.Q308fs	MAP7D3_ENST00000370663.5_Frame_Shift_Del_p.Q290fs|MAP7D3_ENST00000370661.1_Frame_Shift_Del_p.Q273fs	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	308					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					ACATTCACCTGGGGGGGTGCA	0.532																																						ENST00000316077.9																			0				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44						c.(922-924)agfs		MAP7 domain containing 3							179.0	175.0	176.0					X																	135314194		2042	4171	6213	SO:0001589	frameshift_variant	79649					cytoplasm|spindle		g.chrX:135314194delG	AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.922delC	X.37:g.135314194delG	ENSP00000318086:p.Gln308fs					MAP7D3_ENST00000370661.1_Frame_Shift_Del_p.Q273fs|MAP7D3_ENST00000370663.5_Frame_Shift_Del_p.Q290fs	p.Q308fs	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN			8	1142	-	Acute lymphoblastic leukemia(192;0.000127)		308					A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Frame_Shift_Del	DEL	ENST00000316077.9	37	c.922delC	CCDS44004.1																																																																																				0.532	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2			8	1262						8	1262	---	---	---	---
