#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
DNM1P46	196968	broad.mit.edu	37	15	100341319	100341319	+	RNA	SNP	C	C	T			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr15:100341319C>T	ENST00000341853.1	-	0	327					NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										TTTCCATTTGCCGCTCCAGCT	0.582																																						ENST00000341853.1																			0																				45.0	41.0	42.0					15																	100341319		1545	3555	5100			0							g.chr15:100341319C>T	AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100341319C>T								NR_003260.1						0	327	-								Q3ZCN3	RNA	SNP	ENST00000341853.1	37																																																																																						0.582	DNM1P46-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000313543.1	NR_003260		4	68	0	0	0	1	0	4	68				
ARFGAP2	84364	broad.mit.edu	37	11	47198145	47198145	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr11:47198145C>T	ENST00000524782.1	-	2	341	c.113G>A	c.(112-114)aGc>aAc	p.S38N	ARFGAP2_ENST00000395449.3_5'UTR|ARFGAP2_ENST00000319543.6_5'UTR|ARFGAP2_ENST00000419701.2_5'UTR|ARFGAP2_ENST00000426335.2_Missense_Mutation_p.S38N	NM_001242832.1|NM_032389.4	NP_001229761.1|NP_115765.2	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating protein 2	38	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.S38N(1)		breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GTACGTGATGCTGGCCCAACT	0.632																																						ENST00000524782.1																			1	Substitution - Missense(1)	p.S38N(1)	prostate(1)	breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(112-114)aGc>aAc		ADP-ribosylation factor GTPase activating protein 2							76.0	76.0	76.0					11																	47198145		2201	4298	6499	SO:0001583	missense	84364				protein transport|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|nucleolus|plasma membrane	ARF GTPase activator activity|zinc ion binding	g.chr11:47198145C>T	AK027482	CCDS7926.1, CCDS73283.1	11p11.2-p11.12	2012-10-05	2008-01-09	2008-01-09	ENSG00000149182	ENSG00000149182		"""ADP-ribosylation factor GTPase activating proteins"""	13504	protein-coding gene	gene with protein product		606908	"""zinc finger protein 289, ID1 regulated"""	ZNF289		11278321, 14690497	Standard	NM_032389		Approved	IRZ, Zfp289, FLJ14576	uc001ndt.3	Q8N6H7	OTTHUMG00000166773	ENST00000524782.1:c.113G>A	11.37:g.47198145C>T	ENSP00000434442:p.Ser38Asn					ARFGAP2_ENST00000319543.6_5'UTR|ARFGAP2_ENST00000426335.2_Missense_Mutation_p.S38N|ARFGAP2_ENST00000419701.2_5'UTR|ARFGAP2_ENST00000395449.3_5'UTR	p.S38N	NM_001242832.1|NM_032389.4	NP_001229761.1|NP_115765.2	Q8N6H7	ARFG2_HUMAN			2	341	-			38			Arf-GAP.		B4DX29|B7Z9M7|D3DQQ9|Q3LIF2|Q8N3I1|Q96SX7	Missense_Mutation	SNP	ENST00000524782.1	37	c.113G>A	CCDS7926.1	.	.	.	.	.	.	.	.	.	.	C	34	5.309429	0.95629	.	.	ENSG00000149182	ENST00000426335;ENST00000524782;ENST00000526342;ENST00000527927;ENST00000525398;ENST00000525314;ENST00000528444;ENST00000530596	T;T;T;T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52;0.52;0.52;0.52	5.49	3.6	0.41247	.	0.042391	0.85682	N	0.000000	T	0.79592	0.4472	H	0.97023	3.925	0.80722	D	1	D;D;D;D	0.89917	1.0;0.994;1.0;0.999	D;D;D;D	0.91635	0.999;0.974;0.997;0.998	T	0.82725	-0.0315	10	0.87932	D	0	-19.3778	10.3	0.43646	0.136:0.7938:0.0:0.0702	.	38;38;38;38	B7Z6H9;B3KV00;G5E9L0;Q8N6H7	.;.;.;ARFG2_HUMAN	N	38	ENSP00000400226:S38N;ENSP00000434442:S38N;ENSP00000437305:S38N;ENSP00000434433:S38N;ENSP00000431939:S38N;ENSP00000434809:S38N;ENSP00000431684:S38N;ENSP00000435488:S38N	ENSP00000400226:S38N	S	-	2	0	ARFGAP2	47154721	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	0.674000	0.31244	0.462000	0.41574	AGC		0.632	ARFGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391425.1	NM_032389		3	57	0	0	0	1	0	3	57				
ANKRD50	57182	broad.mit.edu	37	4	125591185	125591185	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr4:125591185G>A	ENST00000504087.1	-	4	4284	c.3247C>T	c.(3247-3249)Cgt>Tgt	p.R1083C	ANKRD50_ENST00000515641.1_Missense_Mutation_p.R904C	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1083								p.R1083C(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						GCTGCAACACGCATAGCAGTG	0.418																																						ENST00000504087.1																			1	Substitution - Missense(1)	p.R1083C(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						c.(3247-3249)Cgt>Tgt		ankyrin repeat domain 50							89.0	87.0	88.0					4																	125591185		2203	4300	6503	SO:0001583	missense	57182							g.chr4:125591185G>A	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.3247C>T	4.37:g.125591185G>A	ENSP00000425658:p.Arg1083Cys					ANKRD50_ENST00000515641.1_Missense_Mutation_p.R904C	p.R1083C	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN			4	4284	-			1083					A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	c.3247C>T	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.382500	0.61845	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.64085	-0.08;-0.08	5.51	4.65	0.58169	Ankyrin repeat-containing domain (4);	0.049734	0.85682	D	0.000000	T	0.68016	0.2955	L	0.29908	0.895	0.58432	D	0.999998	D	0.89917	1.0	D	0.79784	0.993	T	0.69566	-0.5111	10	0.49607	T	0.09	.	13.2518	0.60055	0.0:0.0:0.7022:0.2978	.	1083	Q9ULJ7	ANR50_HUMAN	C	1083;904	ENSP00000425658:R1083C;ENSP00000425355:R904C	ENSP00000425658:R1083C	R	-	1	0	ANKRD50	125810635	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	3.450000	0.52957	1.505000	0.48720	0.561000	0.74099	CGT		0.418	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		5	136	0	0	0	1	0	5	136				
XRCC6	2547	broad.mit.edu	37	22	42059704	42059704	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr22:42059704C>T	ENST00000359308.4	+	12	2370	c.1715C>T	c.(1714-1716)aCg>aTg	p.T572M	XRCC6_ENST00000405878.1_Missense_Mutation_p.T572M|XRCC6_ENST00000428575.2_Missense_Mutation_p.T439M|XRCC6_ENST00000405506.1_Missense_Mutation_p.T522M|XRCC6_ENST00000360079.3_Missense_Mutation_p.T572M|XRCC6_ENST00000402580.3_Missense_Mutation_p.T531M			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	572	Interaction with DEAF1.				brain development (GO:0007420)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA ligation (GO:0006266)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)	p.T572M(2)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						AGCAAGGGTACGCTGGGCAAG	0.562								Non-homologous end-joining																														ENST00000359308.4																			2	Substitution - Missense(2)	p.T572M(2)	prostate(2)	central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						c.(1714-1716)aCg>aTg	Non-homologous end-joining	X-ray repair complementing defective repair in Chinese hamster cells 6							91.0	86.0	88.0					22																	42059704		2203	4300	6503	SO:0001583	missense	2547				DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding	g.chr22:42059704C>T	J04607	CCDS14021.1, CCDS74870.1, CCDS74871.1	22q13.2	2011-09-12	2008-07-31	2005-05-06	ENSG00000196419	ENSG00000196419			4055	protein-coding gene	gene with protein product	"""Ku autoantigen, 70kDa"""	152690	"""thyroid autoantigen 70kD (Ku antigen)"", ""thyroid autoantigen 70kDa (Ku antigen)"""	G22P1		9200330, 9223317	Standard	NM_001469		Approved	D22S731, D22S671, KU70, ML8	uc003bao.1	P12956	OTTHUMG00000151190	ENST00000359308.4:c.1715C>T	22.37:g.42059704C>T	ENSP00000352257:p.Thr572Met					XRCC6_ENST00000405506.1_Missense_Mutation_p.T522M|XRCC6_ENST00000405878.1_Missense_Mutation_p.T572M|XRCC6_ENST00000428575.2_Missense_Mutation_p.T439M|XRCC6_ENST00000360079.3_Missense_Mutation_p.T572M|XRCC6_ENST00000402580.3_Missense_Mutation_p.T531M	p.T572M			P12956	XRCC6_HUMAN			12	2370	+			572					B1AHC8|Q6FG89|Q9UCQ2|Q9UCQ3	Missense_Mutation	SNP	ENST00000359308.4	37	c.1715C>T	CCDS14021.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.658162	0.67586	.	.	ENSG00000196419	ENST00000360079;ENST00000402580;ENST00000428575;ENST00000359308;ENST00000405878;ENST00000405506	.	.	.	5.42	4.39	0.52855	DNA-binding SAP (1);	0.043766	0.85682	D	0.000000	T	0.61565	0.2357	L	0.59436	1.845	0.80722	D	1	P;D;P	0.69078	0.702;0.997;0.702	B;P;B	0.49301	0.194;0.606;0.194	T	0.64786	-0.6325	9	0.49607	T	0.09	-9.6944	14.5463	0.68032	0.1476:0.8524:0.0:0.0	.	522;531;572	B1AHC9;B1AHC8;P12956	.;.;XRCC6_HUMAN	M	572;531;439;572;572;522	.	ENSP00000352257:T572M	T	+	2	0	XRCC6	40389650	1.000000	0.71417	0.890000	0.34922	0.669000	0.39330	7.247000	0.78257	1.257000	0.44085	0.563000	0.77884	ACG		0.562	XRCC6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321688.1	NM_001469		33	128	0	0	0	1	0	33	128				
HIST1H4K	8362	broad.mit.edu	37	6	27799301	27799301	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr6:27799301G>C	ENST00000357549.2	-	1	4	c.5C>G	c.(4-6)tCt>tGt	p.S2C		NM_003541.2	NP_003532.1	P62805	H4_HUMAN	histone cluster 1, H4k	2					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)	p.S2C(1)		breast(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)	7						GCCGCGGCCAGACATGACGAG	0.592																																						ENST00000357549.2																			1	Substitution - Missense(1)	p.S2C(1)	prostate(1)	breast(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)	7						c.(4-6)tCt>tGt		histone cluster 1, H4k							33.0	32.0	32.0					6																	27799301		2200	4291	6491	SO:0001583	missense	8362				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:27799301G>C	X60483	CCDS4631.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197914	ENSG00000273542		"""Histones / Replication-dependent"""	4784	protein-coding gene	gene with protein product		602825	"""H4 histone family, member D"", ""histone 1, H4k"""	H4FD		9439656, 12408966	Standard	NM_003541		Approved	H4/d, H4F2iii, dJ160A22.1	uc003njr.3	P62805	OTTHUMG00000014488	ENST00000357549.2:c.5C>G	6.37:g.27799301G>C	ENSP00000350159:p.Ser2Cys						p.S2C	NM_003541.2	NP_003532.1	P62805	H4_HUMAN			1	4	-			2					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000357549.2	37	c.5C>G	CCDS4631.1	.	.	.	.	.	.	.	.	.	.	.	16.67	3.188908	0.57909	.	.	ENSG00000197914	ENST00000357549	.	.	.	4.05	4.05	0.47172	.	0.255102	0.23957	U	0.042893	T	0.47097	0.1427	.	.	.	0.29602	N	0.847592	.	.	.	.	.	.	T	0.47548	-0.9109	6	0.87932	D	0	.	15.6683	0.77252	0.0:0.0:1.0:0.0	.	.	.	.	C	2	.	ENSP00000350159:S2C	S	-	2	0	HIST1H4K	27907280	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	6.575000	0.74018	1.981000	0.57761	0.644000	0.83932	TCT		0.592	HIST1H4K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040156.1	NM_003541		16	68	0	0	0	1	0	16	68				
PCNX	22990	broad.mit.edu	37	14	71485847	71485847	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr14:71485847G>A	ENST00000304743.2	+	12	3564	c.3118G>A	c.(3118-3120)Gtc>Atc	p.V1040I	PCNX_ENST00000439984.3_Missense_Mutation_p.V929I|PCNX_ENST00000238570.5_Missense_Mutation_p.V1040I	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1040						integral component of membrane (GO:0016021)		p.V1040I(1)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GTTCTGCCTCGTCATAGCCAG	0.423																																						ENST00000304743.2																			1	Substitution - Missense(1)	p.V1040I(1)	prostate(1)	NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87						c.(3118-3120)Gtc>Atc		pecanex homolog (Drosophila)							164.0	150.0	155.0					14																	71485847		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71485847G>A	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.3118G>A	14.37:g.71485847G>A	ENSP00000304192:p.Val1040Ile					PCNX_ENST00000238570.5_Missense_Mutation_p.V1040I|PCNX_ENST00000439984.3_Missense_Mutation_p.V929I	p.V1040I	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	12	3564	+			1040					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.3118G>A	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.350246	0.82132	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	T;T;T	0.70399	-0.48;-0.48;-0.48	5.55	5.55	0.83447	.	0.118823	0.56097	D	0.000028	T	0.81683	0.4874	L	0.55481	1.735	0.80722	D	1	D;D	0.76494	0.971;0.999	B;D	0.71184	0.391;0.972	T	0.80917	-0.1168	10	0.48119	T	0.1	.	19.5026	0.95103	0.0:0.0:1.0:0.0	.	929;1040	B2RTR6;Q96RV3	.;PCX1_HUMAN	I	1040;1040;929	ENSP00000304192:V1040I;ENSP00000238570:V1040I;ENSP00000396617:V929I	ENSP00000238570:V1040I	V	+	1	0	PCNX	70555600	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.658000	0.98594	2.612000	0.88384	0.655000	0.94253	GTC		0.423	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		98	210	0	0	0	1	0	98	210				
CFHR2	3080	broad.mit.edu	37	1	196918732	196918732	+	Missense_Mutation	SNP	G	G	A	rs144596551		TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr1:196918732G>A	ENST00000367415.5	+	2	306	c.206G>A	c.(205-207)cGc>cAc	p.R69H	CFHR2_ENST00000476712.2_Missense_Mutation_p.R69H|CFHR2_ENST00000367421.3_Missense_Mutation_p.R69H|CFHR2_ENST00000496448.1_Intron	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	69	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					extracellular region (GO:0005576)		p.R69H(1)		large_intestine(2)|ovary(1)|skin(3)	6						TTTTGGACTCGCATAACGTGC	0.393																																						ENST00000367415.4																			1	Substitution - Missense(1)	p.R69H(1)	ovary(1)	large_intestine(2)|ovary(1)|skin(3)	6						c.(205-207)cGc>cAc		complement factor H-related 2							97.0	87.0	90.0					1																	196918732		2203	4300	6503	SO:0001583	missense	3080					extracellular region		g.chr1:196918732G>A	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367415.5:c.206G>A	1.37:g.196918732G>A	ENSP00000356385:p.Arg69His					CFHR2_ENST00000367421.3_Missense_Mutation_p.R69H|CFHR2_ENST00000476712.1_3'UTR	p.R69H	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN			2	320	+			69			Sushi 1.		Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367415.5	37	c.206G>A	CCDS30959.1	.	.	.	.	.	.	.	.	.	.	.	11.75	1.733228	0.30684	.	.	ENSG00000080910	ENST00000367421;ENST00000367415	T;T	0.64803	-0.12;-0.12	3.15	-6.29	0.02013	Complement control module (2);Sushi/SCR/CCP (2);	1.243780	0.06385	N	0.715952	T	0.63873	0.2548	L	0.44542	1.39	0.09310	N	1	D	0.89917	1.0	D	0.66847	0.947	T	0.61540	-0.7042	10	0.42905	T	0.14	.	5.3275	0.15915	0.3221:0.4369:0.241:0.0	.	69	P36980	FHR2_HUMAN	H	69	ENSP00000356391:R69H;ENSP00000356385:R69H	ENSP00000356385:R69H	R	+	2	0	CFHR2	195185355	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.088000	0.00610	-1.636000	0.01533	-0.357000	0.07601	CGC		0.393	CFHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088815.2	NM_005666		4	110	0	0	0	1	0	4	110				
NOVA1	4857	broad.mit.edu	37	14	26917506	26917506	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr14:26917506T>A	ENST00000539517.2	-	5	1500	c.1183A>T	c.(1183-1185)Acc>Tcc	p.T395S	NOVA1_ENST00000465357.2_Missense_Mutation_p.T371S|NOVA1_ENST00000267422.7_Missense_Mutation_p.T273S	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	398	Ala-rich.				locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.T395S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TATCCATTGGTTGCAGCAGTA	0.522																																						ENST00000539517.2																			1	Substitution - Missense(1)	p.T395S(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(1183-1185)Acc>Tcc		neuro-oncological ventral antigen 1							43.0	45.0	45.0					14																	26917506		2203	4300	6503	SO:0001583	missense	4857				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	g.chr14:26917506T>A	U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000539517.2:c.1183A>T	14.37:g.26917506T>A	ENSP00000438875:p.Thr395Ser					NOVA1_ENST00000465357.2_Missense_Mutation_p.T371S|NOVA1_ENST00000267422.7_Missense_Mutation_p.T273S	p.T395S	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0135)	5	1500	-			398			Ala-rich.		A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Missense_Mutation	SNP	ENST00000539517.2	37	c.1183A>T	CCDS32061.1	.	.	.	.	.	.	.	.	.	.	T	0.611	-0.824977	0.02755	.	.	ENSG00000139910	ENST00000465357;ENST00000539517;ENST00000267422	T;T;T	0.30714	1.56;1.52;1.55	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.22898	0.0553	N	0.22421	0.69	0.47698	D	0.999495	B;B;B	0.15930	0.003;0.005;0.015	B;B;B	0.16289	0.004;0.005;0.015	T	0.06338	-1.0832	10	0.19147	T	0.46	0.0138	16.3593	0.83251	0.0:0.0:0.0:1.0	.	398;371;395	P51513;D3DS81;P51513-4	NOVA1_HUMAN;.;.	S	371;395;273	ENSP00000447391:T371S;ENSP00000438875:T395S;ENSP00000267422:T273S	ENSP00000267422:T273S	T	-	1	0	NOVA1	25987346	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.196000	0.58407	2.267000	0.75376	0.383000	0.25322	ACC		0.522	NOVA1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000073261.3	NM_006491		13	36	0	0	0	1	0	13	36				
ALDOB	229	broad.mit.edu	37	9	104192139	104192139	+	Silent	SNP	G	G	A			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr9:104192139G>A	ENST00000374855.4	-	3	346	c.222C>T	c.(220-222)atC>atT	p.I74I	ALDOB_ENST00000468981.3_5'UTR	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	74			I -> T (in HFI; affects proper folding). {ECO:0000269|PubMed:15532022}.		carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose catabolic process (GO:0006001)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|NADH oxidation (GO:0006116)|positive regulation of ATPase activity (GO:0032781)|small molecule metabolic process (GO:0044281)|vacuolar proton-transporting V-type ATPase complex assembly (GO:0070072)	centriolar satellite (GO:0034451)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)	ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-1-phosphate aldolase activity (GO:0061609)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)	p.I74I(2)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				TCACACCCCCGATGCTCTGGT	0.532																																						ENST00000374855.4																			2	Substitution - coding silent(2)	p.I74I(2)	large_intestine(1)|prostate(1)	central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24						c.(220-222)atC>atT		aldolase B, fructose-bisphosphate							171.0	159.0	163.0					9																	104192139		2203	4300	6503	SO:0001819	synonymous_variant	229				fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding	g.chr9:104192139G>A	X01098	CCDS6756.1	9q21.3-q22.2	2008-02-05			ENSG00000136872	ENSG00000136872	4.1.2.13		417	protein-coding gene	gene with protein product		612724					Standard	NM_000035		Approved		uc004bbk.2	P05062	OTTHUMG00000020378	ENST00000374855.4:c.222C>T	9.37:g.104192139G>A						ALDOB_ENST00000468981.2_5'UTR	p.I74I	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN			3	346	-		Acute lymphoblastic leukemia(62;0.0559)	74		I -> T (in HFI; affects proper folding).			Q13741|Q13742|Q5T7D6	Silent	SNP	ENST00000374855.4	37	c.222C>T	CCDS6756.1																																																																																				0.532	ALDOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053434.2			94	247	0	0	0	1	0	94	247				
LILRB5	10990	broad.mit.edu	37	19	54754889	54754889	+	Intron	SNP	T	T	C			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr19:54754889T>C	ENST00000316219.5	-	13	1734				CTD-2337J16.1_ENST00000595133.1_lincRNA|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000450632.1_Silent_p.R582R	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5						cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGTCCATCTGTCTGTCCTCTT	0.597																																						ENST00000450632.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1744-1746)agA>agG		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5																																				SO:0001627	intron_variant	0				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54754889T>C	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1627-93A>G	19.37:g.54754889T>C						LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000449561.2_Intron	p.R582R			O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	13	1823	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		388					Q8N760	Silent	SNP	ENST00000316219.5	37	c.1746A>G	CCDS12885.1																																																																																				0.597	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			3	34	0	0	0	1	0	3	34				
CCDC121	79635	broad.mit.edu	37	2	27850383	27850383	+	Missense_Mutation	SNP	T	T	C	rs367976168		TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr2:27850383T>C	ENST00000324364.3	-	2	464	c.284A>G	c.(283-285)aAt>aGt	p.N95S	GPN1_ENST00000610189.1_5'Flank|GPN1_ENST00000264718.3_5'Flank|ZNF512_ENST00000556601.1_Intron|GPN1_ENST00000458167.2_5'Flank|GPN1_ENST00000407583.3_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA|GPN1_ENST00000515877.1_5'Flank|CCDC121_ENST00000394775.3_Missense_Mutation_p.N257S|GPN1_ENST00000503738.1_5'Flank|GPN1_ENST00000424214.1_5'Flank	NM_024584.4	NP_078860.2	Q6ZUS5	CC121_HUMAN	coiled-coil domain containing 121	95								p.N95S(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(172;0.155)					GGATTGGATATTTTCCTTTTG	0.393																																						ENST00000324364.3																			1	Substitution - Missense(1)	p.N95S(1)	prostate(1)	breast(1)|endometrium(3)|large_intestine(2)|lung(6)|prostate(2)	14						c.(283-285)aAt>aGt		coiled-coil domain containing 121							184.0	187.0	186.0					2																	27850383		2203	4300	6503	SO:0001583	missense	79635							g.chr2:27850383T>C	AK125354	CCDS1759.1, CCDS46247.1	2p23.2	2008-02-05			ENSG00000176714	ENSG00000176714			25833	protein-coding gene	gene with protein product							Standard	NM_024584		Approved	FLJ43364, FLJ13646	uc002rld.3	Q6ZUS5	OTTHUMG00000128427	ENST00000324364.3:c.284A>G	2.37:g.27850383T>C	ENSP00000339087:p.Asn95Ser					ZNF512_ENST00000556601.1_Intron|RP11-158I13.2_ENST00000505973.1_RNA|CCDC121_ENST00000394775.3_Missense_Mutation_p.N257S	p.N95S	NM_024584.4	NP_078860.2	Q6ZUS5	CC121_HUMAN			2	464	-	Acute lymphoblastic leukemia(172;0.155)		95					B3KW66|J3KQZ8|Q9H8G6	Missense_Mutation	SNP	ENST00000324364.3	37	c.284A>G	CCDS1759.1	.	.	.	.	.	.	.	.	.	.	T	14.69	2.610830	0.46527	.	.	ENSG00000176714	ENST00000324364;ENST00000394775	T;T	0.30448	1.53;1.53	5.56	1.2	0.21068	.	2.090370	0.01970	N	0.043992	T	0.16811	0.0404	N	0.08118	0	0.09310	N	1	B	0.21452	0.056	B	0.14023	0.01	T	0.16660	-1.0395	10	0.33141	T	0.24	-13.5985	5.1683	0.15098	0.3106:0.0:0.1606:0.5288	.	95	Q6ZUS5	CC121_HUMAN	S	95;257	ENSP00000339087:N95S;ENSP00000412150:N257S	ENSP00000339087:N95S	N	-	2	0	CCDC121	27703887	0.002000	0.14202	0.020000	0.16555	0.436000	0.31835	0.318000	0.19504	0.887000	0.36136	0.482000	0.46254	AAT		0.393	CCDC121-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250215.1	NM_024584		158	322	0	0	0	1	0	158	322				
AGFG1	3267	broad.mit.edu	37	2	228389506	228389506	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr2:228389506A>C	ENST00000310078.8	+	5	829	c.569A>C	c.(568-570)cAg>cCg	p.Q190P	AGFG1_ENST00000373671.3_Missense_Mutation_p.Q190P|AGFG1_ENST00000486932.1_3'UTR|AGFG1_ENST00000409171.1_Missense_Mutation_p.Q190P|AGFG1_ENST00000409315.1_Missense_Mutation_p.Q190P|AGFG1_ENST00000409979.2_Missense_Mutation_p.Q190P	NM_001135188.1|NM_001135189.1|NM_004504.4	NP_001128660.1|NP_001128661.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1	190					cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of ARF GTPase activity (GO:0032312)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)	ARF GTPase activator activity (GO:0008060)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.Q190P(1)		central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						TCTCAAGGGCAGCAGCAGGAG	0.423																																						ENST00000310078.7																			1	Substitution - Missense(1)	p.Q190P(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						c.(568-570)cAg>cCg		ArfGAP with FG repeats 1							164.0	149.0	154.0					2																	228389506		2203	4300	6503	SO:0001583	missense	3267				cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis	cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore	ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding	g.chr2:228389506A>C		CCDS2467.1, CCDS46533.1, CCDS46534.1, CCDS46535.1	2q36	2009-11-30	2008-09-22	2008-09-22	ENSG00000173744	ENSG00000173744		"""ADP-ribosylation factor GTPase activating proteins"""	5175	protein-coding gene	gene with protein product		600862	"""HIV-1 Rev binding protein"""	HRB		7637788	Standard	NM_004504		Approved	RIP, RAB	uc002vpd.2	P52594	OTTHUMG00000133186	ENST00000310078.8:c.569A>C	2.37:g.228389506A>C	ENSP00000312059:p.Gln190Pro					AGFG1_ENST00000373671.3_Missense_Mutation_p.Q190P|AGFG1_ENST00000409315.1_Missense_Mutation_p.Q190P|AGFG1_ENST00000409171.1_Missense_Mutation_p.Q190P|AGFG1_ENST00000409979.2_Missense_Mutation_p.Q190P|AGFG1_ENST00000486932.1_3'UTR	p.Q190P	NM_001135188.1|NM_004504.4	NP_001128660.1|NP_004495.2	P52594	AGFG1_HUMAN			5	829	+			190					B3KUL1|E9PHX7|Q15277|Q4VAS0|Q4VAS1|Q4VAS3|Q53QT8|Q53R11	Missense_Mutation	SNP	ENST00000310078.8	37	c.569A>C	CCDS2467.1	.	.	.	.	.	.	.	.	.	.	A	12.99	2.102420	0.37145	.	.	ENSG00000173744	ENST00000409979;ENST00000542592;ENST00000310078;ENST00000409315;ENST00000373671;ENST00000409171;ENST00000456594	T;T;T;T;T	0.25414	1.81;1.81;1.83;1.86;1.8	6.08	6.08	0.98989	.	0.056626	0.64402	D	0.000001	T	0.23846	0.0577	L	0.50333	1.59	0.53688	D	0.999971	B;B;B;B	0.31680	0.003;0.335;0.138;0.063	B;B;B;B	0.27887	0.005;0.084;0.073;0.014	T	0.04255	-1.0965	10	0.17832	T	0.49	-3.2143	15.2222	0.73320	1.0:0.0:0.0:0.0	.	190;190;190;190	P52594-2;P52594-3;E9PHX7;P52594	.;.;.;AGFG1_HUMAN	P	190;175;190;190;190;190;112	ENSP00000387282:Q190P;ENSP00000312059:Q190P;ENSP00000387154:Q190P;ENSP00000362775:Q190P;ENSP00000387218:Q190P	ENSP00000312059:Q190P	Q	+	2	0	AGFG1	228097750	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.680000	0.54641	2.333000	0.79357	0.482000	0.46254	CAG		0.423	AGFG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256895.2	NM_004504		57	194	0	0	0	1	0	57	194				
GMPPB	29925	broad.mit.edu	37	3	49755885	49755885	+	3'UTR	SNP	G	G	A			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr3:49755885G>A	ENST00000480687.1	-	0	4499				RNF123_ENST00000327697.6_Intron|RNF123_ENST00000433785.1_Intron|AMIGO3_ENST00000535833.1_Silent_p.A338A|RNF123_ENST00000497099.1_3'UTR|AMIGO3_ENST00000320431.7_Silent_p.A338A			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|mannose-1-phosphate guanylyltransferase activity (GO:0004475)	p.A338A(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CGTTGCCTATGGCCAAGCTGC	0.667																																						ENST00000535833.1																			1	Substitution - coding silent(1)	p.A338A(1)	prostate(1)	endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5						c.(1012-1014)gcC>gcT		adhesion molecule with Ig-like domain 3							45.0	48.0	47.0					3																	49755885		2203	4300	6503	SO:0001624	3_prime_UTR_variant	386724				heterophilic cell-cell adhesion	integral to membrane		g.chr3:49755885G>A	AF135421	CCDS2802.1, CCDS2803.1	3p21.31	2008-02-05			ENSG00000173540	ENSG00000173540	2.7.7.22		22932	protein-coding gene	gene with protein product		615320					Standard	NM_013334		Approved	KIAA1851	uc003cxl.1	Q9Y5P6	OTTHUMG00000158151	ENST00000480687.1:c.*3300C>T	3.37:g.49755885G>A						RNF123_ENST00000327697.6_Intron|RNF123_ENST00000497099.1_3'UTR|RNF123_ENST00000433785.1_Intron|AMIGO3_ENST00000320431.7_Silent_p.A338A|GMPPB_ENST00000480687.1_3'UTR	p.A338A			Q86WK7	AMGO3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	10	4464	-			338			Ig-like C2-type.		A8K6N5|Q9H7U3	Silent	SNP	ENST00000480687.1	37	c.1014C>T	CCDS2803.1																																																																																				0.667	GMPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350291.1	NM_013334		9	34	0	0	0	1	0	9	34				
FIBCD1	84929	broad.mit.edu	37	9	133799131	133799131	+	Splice_Site	SNP	C	C	A			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr9:133799131C>A	ENST00000372338.4	-	4	1091	c.849G>T	c.(847-849)acG>acT	p.T283T	FIBCD1_ENST00000372337.2_Splice_Site_p.T125T|FIBCD1_ENST00000448616.1_Splice_Site_p.T283T|FIBCD1_ENST00000253018.4_Splice_Site_p.T125T	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	283	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitin binding (GO:0008061)|metal ion binding (GO:0046872)	p.T283T(1)		kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		GGACACTCACCGTCCAGCCGC	0.682																																						ENST00000372338.4																			1	Substitution - coding silent(1)	p.T283T(1)	prostate(1)	kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12						c.e4+1		fibrinogen C domain containing 1							35.0	32.0	33.0					9																	133799131		2202	4300	6502	SO:0001630	splice_region_variant	84929				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding	g.chr9:133799131C>A	AK027716	CCDS6937.1	9q34.2	2013-02-06			ENSG00000130720	ENSG00000130720		"""Fibrinogen C domain containing"""	25922	protein-coding gene	gene with protein product		613357				12975309	Standard	NM_001145106		Approved	FLJ14810	uc004bzz.3	Q8N539	OTTHUMG00000020814	ENST00000372338.4:c.849+1G>T	9.37:g.133799131C>A						FIBCD1_ENST00000372337.2_Splice_Site_p.T125_splice|FIBCD1_ENST00000253018.4_Splice_Site_p.T125_splice|FIBCD1_ENST00000448616.1_Splice_Site_p.T283_splice	p.T283_splice	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)	4	1091	-	all_hematologic(7;0.0028)		283			Fibrinogen C-terminal.		A3KFK0|Q6UXK6|Q96SJ7	Splice_Site	SNP	ENST00000372338.4	37	c.849_splice	CCDS6937.1	.	.	.	.	.	.	.	.	.	.	C	8.226	0.803669	0.16467	.	.	ENSG00000130720	ENST00000444139	.	.	.	5.67	4.78	0.61160	.	.	.	.	.	T	0.62109	0.2401	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60439	-0.7263	4	.	.	.	.	10.2832	0.43552	0.0:0.8431:0.0:0.1569	.	.	.	.	L	237	.	.	R	-	2	0	FIBCD1	132788952	1.000000	0.71417	1.000000	0.80357	0.060000	0.15804	2.683000	0.46943	1.396000	0.46663	0.563000	0.77884	CGG		0.682	FIBCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054687.2	NM_032843	Silent	9	16	1	0	0.000442599	1	0.000463676	9	16				
NF2	4771	broad.mit.edu	37	22	30035110	30035110	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr22:30035110C>T	ENST00000338641.4	+	3	713	c.272C>T	c.(271-273)cCa>cTa	p.P91L	NF2_ENST00000347330.5_Intron|NF2_ENST00000361166.4_Missense_Mutation_p.P91L|NF2_ENST00000403999.3_Missense_Mutation_p.P91L|NF2_ENST00000403435.1_Missense_Mutation_p.P91L|NF2_ENST00000334961.7_Intron|NF2_ENST00000361452.4_Intron|NF2_ENST00000361676.4_Missense_Mutation_p.P49L|NF2_ENST00000413209.2_Missense_Mutation_p.P91L|NF2_ENST00000397789.3_Missense_Mutation_p.P91L|NF2_ENST00000353887.4_Intron	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	91	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.?(3)|p.H84_F100del(1)|p.V86_Q111>E(1)|p.P91L(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						AAGGAAGAACCAGTCACCTTT	0.423			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2																													ENST00000338641.4			yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	"""D, Mis, N, F, S, O"""	neurofibromatosis type 2 gene			O		"""meningioma, acoustic neuroma"""	"""meningioma, acoustic neuroma, renal """		6	Unknown(3)|Substitution - Missense(1)|Complex - deletion inframe(1)|Deletion - In frame(1)	p.?(3)|p.H84_F100del(1)|p.V86_Q111>E(1)|p.P91L(1)	soft_tissue(2)|stomach(1)|large_intestine(1)|prostate(1)|lung(1)	NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						c.(271-273)cCa>cTa		neurofibromin 2 (merlin)							139.0	120.0	126.0					22																	30035110		2203	4300	6503	SO:0001583	missense	4771	Neurofibromatosis, type 2	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	g.chr22:30035110C>T	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"""A-kinase anchor proteins"""	7773	protein-coding gene	gene with protein product	"""moesin-ezrin-radixin like"", ""schwannomin"""	607379	"""neurofibromin 2 (bilateral acoustic neuroma)"""			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.272C>T	22.37:g.30035110C>T	ENSP00000344666:p.Pro91Leu					NF2_ENST00000413209.2_Missense_Mutation_p.P91L|NF2_ENST00000361166.4_Missense_Mutation_p.P91L|NF2_ENST00000403999.3_Missense_Mutation_p.P91L|NF2_ENST00000361676.4_Missense_Mutation_p.P49L|NF2_ENST00000347330.5_Intron|NF2_ENST00000361452.4_Intron|NF2_ENST00000353887.4_Intron|NF2_ENST00000397789.3_Missense_Mutation_p.P91L|NF2_ENST00000403435.1_Missense_Mutation_p.P91L|NF2_ENST00000334961.7_Intron	p.P91L	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN			3	713	+			91			FERM.		O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Missense_Mutation	SNP	ENST00000338641.4	37	c.272C>T	CCDS13861.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.001424	0.93227	.	.	ENSG00000186575	ENST00000413209;ENST00000338641;ENST00000403435;ENST00000397822;ENST00000403999;ENST00000397789;ENST00000361676;ENST00000361166	T;T;T;T;T;D;T	0.86297	-1.19;-1.19;-1.19;-1.19;-1.19;-2.1;-1.19	6.17	6.17	0.99709	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);FERM conserved site (1);	0.049427	0.85682	D	0.000000	D	0.91043	0.7182	M	0.86028	2.79	0.80722	D	1	B;B;B;P;P	0.51933	0.044;0.139;0.193;0.872;0.949	B;B;B;B;P	0.46076	0.054;0.186;0.114;0.231;0.503	D	0.90860	0.4738	9	.	.	.	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	91;91;91;49;91	P35240-9;P35240;P35240-2;P35240-6;P35240-3	.;MERL_HUMAN;.;.;.	L	91;91;91;91;91;91;49;91	ENSP00000409921:P91L;ENSP00000344666:P91L;ENSP00000384029:P91L;ENSP00000384797:P91L;ENSP00000380891:P91L;ENSP00000355183:P49L;ENSP00000354529:P91L	.	P	+	2	0	NF2	28365110	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.963000	0.70372	2.941000	0.99782	0.655000	0.94253	CCA		0.423	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268		35	88	0	0	0	1	0	35	88				
ATP2A2	488	broad.mit.edu	37	12	110765384	110765384	+	Silent	SNP	T	T	A	rs549471747		TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr12:110765384T>A	ENST00000539276.2	+	8	766	c.657T>A	c.(655-657)gcT>gcA	p.A219A	ATP2A2_ENST00000308664.6_Silent_p.A219A|ATP2A2_ENST00000395494.2_Silent_p.A192A			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	219					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)	p.A219A(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						CTGGGAAAGCTATGGGAGTGG	0.468																																						ENST00000395494.2																			1	Substitution - coding silent(1)	p.A219A(1)	prostate(1)	NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						c.(574-576)gcT>gcA		ATPase, Ca++ transporting, cardiac muscle, slow twitch 2							191.0	190.0	190.0					12																	110765384		2203	4300	6503	SO:0001819	synonymous_variant	488				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding	g.chr12:110765384T>A		CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"""ATPases / P-type"""	812	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 2"", ""calcium pump 2"""	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.657T>A	12.37:g.110765384T>A						ATP2A2_ENST00000539276.2_Silent_p.A219A|ATP2A2_ENST00000308664.6_Silent_p.A219A	p.A192A			P16615	AT2A2_HUMAN			7	1139	+			219					A6NDN7|B4DF05|P16614|Q86VJ2	Silent	SNP	ENST00000539276.2	37	c.576T>A	CCDS9144.1	.	.	.	.	.	.	.	.	.	.	T	11.38	1.620650	0.28889	.	.	ENSG00000174437	ENST00000548169	.	.	.	5.38	-1.87	0.07737	.	.	.	.	.	T	0.41650	0.1168	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30592	-0.9973	4	.	.	.	.	2.6638	0.05034	0.117:0.308:0.115:0.46	.	.	.	.	N	110	.	.	Y	+	1	0	ATP2A2	109249767	0.262000	0.24073	0.994000	0.49952	0.998000	0.95712	-0.632000	0.05489	-0.210000	0.10140	0.477000	0.44152	TAT		0.468	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681		100	239	0	0	0	1	0	100	239				
ADAMTS19	171019	broad.mit.edu	37	5	128957923	128957923	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr5:128957923A>C	ENST00000274487.4	+	10	1779	c.1634A>C	c.(1633-1635)aAt>aCt	p.N545T	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	545	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.N545T(2)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CTACAAACAAATCCGCAGAGT	0.428																																						ENST00000274487.4																			2	Substitution - Missense(2)	p.N545T(2)	prostate(2)	NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91						c.(1633-1635)aAt>aCt		ADAM metallopeptidase with thrombospondin type 1 motif, 19							143.0	126.0	132.0					5																	128957923		2203	4300	6503	SO:0001583	missense	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:128957923A>C	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.1634A>C	5.37:g.128957923A>C	ENSP00000274487:p.Asn545Thr					CTC-575N7.1_ENST00000503616.1_RNA	p.N545T	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	10	1779	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	545			Peptidase M12B.			Missense_Mutation	SNP	ENST00000274487.4	37	c.1634A>C	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	A	18.85	3.710381	0.68730	.	.	ENSG00000145808	ENST00000274487	T	0.65549	-0.16	4.42	4.42	0.53409	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (1);	0.137175	0.47093	D	0.000246	T	0.49830	0.1580	N	0.08118	0	0.46725	D	0.999174	P	0.45634	0.863	P	0.49387	0.609	T	0.49862	-0.8894	9	.	.	.	.	14.7298	0.69372	1.0:0.0:0.0:0.0	.	545	Q8TE59	ATS19_HUMAN	T	545	ENSP00000274487:N545T	.	N	+	2	0	ADAMTS19	128985822	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	4.988000	0.63863	2.213000	0.71641	0.477000	0.44152	AAT		0.428	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		28	70	0	0	0	1	0	28	70				
RTCB	51493	broad.mit.edu	37	22	32794016	32794016	+	Silent	SNP	A	A	G			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr22:32794016A>G	ENST00000216038.5	-	7	824	c.726T>C	c.(724-726)gcT>gcC	p.A242A	RTCB_ENST00000451746.2_Intron|RTCB_ENST00000476619.1_5'Flank	NM_014306.4	NP_055121.1			RNA 2',3'-cyclic phosphate and 5'-OH ligase									p.A242A(1)									TTTTTTTAGCAGCATACTCAT	0.458																																						ENST00000216038.5																			1	Substitution - coding silent(1)	p.A242A(1)	prostate(1)								c.(724-726)gcT>gcC		RNA 2',3'-cyclic phosphate and 5'-OH ligase							181.0	146.0	158.0					22																	32794016		2203	4300	6503	SO:0001819	synonymous_variant	51493							g.chr22:32794016A>G	BC016707	CCDS13905.1	22q12.3	2013-05-22	2013-05-22	2013-05-22	ENSG00000100220	ENSG00000100220	6.5.1.3		26935	protein-coding gene	gene with protein product	"""focal adhesion-associated protein"""	613901	"""chromosome 22 open reading frame 28"""	C22orf28		11042152, 21209330, 21311021	Standard	NM_014306		Approved	HSPC117, FAAP		Q9Y3I0	OTTHUMG00000030300	ENST00000216038.5:c.726T>C	22.37:g.32794016A>G						RTCB_ENST00000451746.2_Intron	p.A242A	NM_014306.4	NP_055121.1					7	824	-									Silent	SNP	ENST00000216038.5	37	c.726T>C	CCDS13905.1																																																																																				0.458	RTCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075188.3	NM_014306		45	136	0	0	0	1	0	45	136				
HCN1	348980	broad.mit.edu	37	5	45262494	45262494	+	Silent	SNP	C	C	T			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr5:45262494C>T	ENST00000303230.4	-	8	2259	c.2202G>A	c.(2200-2202)ccG>ccA	p.P734P		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	734	Gln-rich.				apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.P734P(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						cctgctgctgcggctgctgtt	0.652																																						ENST00000303230.4																			1	Substitution - coding silent(1)	p.P734P(1)	prostate(1)	NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(2200-2202)ccG>ccA		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							26.0	28.0	28.0					5																	45262494		2203	4298	6501	SO:0001819	synonymous_variant	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262494C>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2202G>A	5.37:g.45262494C>T							p.P734P	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			8	2259	-			734			Gln-rich.			Silent	SNP	ENST00000303230.4	37	c.2202G>A	CCDS3952.1																																																																																				0.652	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		6	13	0	0	0	1	0	6	13				
XAB2	56949	broad.mit.edu	37	19	7691147	7691147	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr19:7691147C>A	ENST00000358368.4	-	5	569	c.532G>T	c.(532-534)Gag>Tag	p.E178*	XAB2_ENST00000534844.1_Nonsense_Mutation_p.E175*	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	178					blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						TCTGCACTCTCAGGACTCAGC	0.657								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000358368.4																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(532-534)Gag>Tag	Direct reversal of damage;Nucleotide excision repair (NER)	XPA binding protein 2							103.0	110.0	107.0					19																	7691147		2203	4300	6503	SO:0001587	stop_gained	56949				transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding	g.chr19:7691147C>A	AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924			14089	protein-coding gene	gene with protein product	"""SYF1 homolog, RNA splicing factor (S. cerevisiae)"", ""SYF1 pre-mRNA-splicing factor"""	610850				10944529	Standard	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.532G>T	19.37:g.7691147C>A	ENSP00000351137:p.Glu178*					XAB2_ENST00000534844.1_Nonsense_Mutation_p.E175*	p.E178*	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN			5	569	-			178					Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Nonsense_Mutation	SNP	ENST00000358368.4	37	c.532G>T	CCDS32892.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.400407	0.62177	.	.	ENSG00000076924	ENST00000358368;ENST00000534844	.	.	.	4.83	3.78	0.43462	.	0.070077	0.56097	D	0.000036	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-23.9177	7.1675	0.25700	0.172:0.7405:0.0:0.0875	.	.	.	.	X	178;175	.	ENSP00000351137:E178X	E	-	1	0	XAB2	7597147	1.000000	0.71417	0.870000	0.34147	0.020000	0.10135	5.546000	0.67243	1.013000	0.39391	-0.314000	0.08810	GAG		0.657	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461021.1	NM_020196		4	211	1	0	1	1	1	4	211				
JAK1	3716	broad.mit.edu	37	1	65310466	65310466	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr1:65310466C>T	ENST00000342505.4	-	16	2470	c.2222G>A	c.(2221-2223)gGc>gAc	p.G741D	JAK1_ENST00000465376.1_5'UTR	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	741	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)	p.G741D(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	AATGGGGATGCCGGGGTCACT	0.587			Mis		ALL																																	ENST00000342505.4				Dom	yes		1	1p32.3-p31.3	3716	Mis	Janus kinase 1			L			ALL		1	Substitution - Missense(1)	p.G741D(1)	prostate(1)	breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(2221-2223)gGc>gAc		Janus kinase 1							90.0	106.0	100.0					1																	65310466		2123	4230	6353	SO:0001583	missense	3716				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65310466C>T	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.2222G>A	1.37:g.65310466C>T	ENSP00000343204:p.Gly741Asp					JAK1_ENST00000465376.1_5'UTR	p.G741D	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	16	2470	-			741			Protein kinase 1.		Q59GQ2|Q9UD26	Missense_Mutation	SNP	ENST00000342505.4	37	c.2222G>A	CCDS41346.1	.	.	.	.	.	.	.	.	.	.	C	33	5.223782	0.95139	.	.	ENSG00000162434	ENST00000342505	D	0.82433	-1.61	5.0	5.0	0.66597	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.94650	0.8275	H	0.99444	4.57	0.80722	D	1	D	0.67145	0.996	P	0.61201	0.885	D	0.96912	0.9668	9	0.87932	D	0	-7.4769	18.5015	0.90882	0.0:1.0:0.0:0.0	.	741	P23458	JAK1_HUMAN	D	741	ENSP00000343204:G741D	ENSP00000343204:G741D	G	-	2	0	JAK1	65083054	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.239000	0.78182	2.613000	0.88420	0.563000	0.77884	GGC		0.587	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		23	41	0	0	0	1	0	23	41				
DDHD1	80821	broad.mit.edu	37	14	53521264	53521264	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr14:53521264A>G	ENST00000323669.5	-	11	2328	c.2329T>C	c.(2329-2331)Tca>Cca	p.S777P	DDHD1_ENST00000357758.3_Missense_Mutation_p.S777P|DDHD1_ENST00000395606.1_Missense_Mutation_p.S784P|DDHD1_ENST00000555621.1_5'Flank	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	777	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					GAGTCTTTTGATGTTTCAGAT	0.468																																						ENST00000357758.3																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25						c.(2329-2331)Tca>Cca		DDHD domain containing 1							232.0	169.0	191.0					14																	53521264		2203	4300	6503	SO:0001583	missense	0				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding	g.chr14:53521264A>G	AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"""phosphatidic acid-preferring phospholipase A1"""	614603	"""spastic paraplegia 28 (autosomal recessive)"""	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.2329T>C	14.37:g.53521264A>G	ENSP00000327104:p.Ser777Pro					DDHD1_ENST00000323669.5_Missense_Mutation_p.S777P|DDHD1_ENST00000395606.1_Missense_Mutation_p.S784P	p.S777P	NM_030637.2	NP_085140.2	Q8NEL9	DDHD1_HUMAN			11	2512	-	Breast(41;0.037)		777			DDHD.		G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Missense_Mutation	SNP	ENST00000323669.5	37	c.2329T>C	CCDS53895.1	.	.	.	.	.	.	.	.	.	.	A	9.829	1.187772	0.21954	.	.	ENSG00000100523	ENST00000323669;ENST00000395606;ENST00000357758;ENST00000395610	.	.	.	5.71	0.184	0.15086	DDHD (2);	0.996321	0.08139	N	0.991939	T	0.29749	0.0743	N	0.14661	0.345	0.29776	N	0.834375	B;B;P;P	0.45078	0.0;0.004;0.85;0.813	B;B;P;B	0.48089	0.0;0.006;0.566;0.353	T	0.39143	-0.9628	9	0.45353	T	0.12	-1.9248	10.7123	0.45990	0.4227:0.5099:0.0675:0.0	.	173;784;777;777	Q2VYF2;G5E9D1;Q8NEL9;Q8NEL9-2	.;.;DDHD1_HUMAN;.	P	777;784;777;648	.	ENSP00000327104:S777P	S	-	1	0	DDHD1	52591014	0.004000	0.15560	0.714000	0.30535	0.316000	0.28119	0.172000	0.16704	0.069000	0.16605	0.528000	0.53228	TCA		0.468	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1			4	176	0	0	0	1	0	4	176				
AFAP1	60312	broad.mit.edu	37	4	7787976	7787976	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr4:7787976G>A	ENST00000360265.4	-	11	1709	c.1475C>T	c.(1474-1476)gCc>gTc	p.A492V	AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000420658.1_Missense_Mutation_p.A492V|AFAP1_ENST00000382543.3_Missense_Mutation_p.A492V|AFAP1_ENST00000358461.2_Missense_Mutation_p.A492V			Q8N556	AFAP1_HUMAN	actin filament associated protein 1	492						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						GCTGGGGTGGGCATAGCCGTT	0.493																																						ENST00000420658.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						c.(1474-1476)gCc>gTc		actin filament associated protein 1							123.0	120.0	121.0					4																	7787976		2203	4300	6503	SO:0001583	missense	60312					actin cytoskeleton|cytoplasm|focal adhesion	actin binding	g.chr4:7787976G>A	AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"""Pleckstrin homology (PH) domain containing"""	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.1475C>T	4.37:g.7787976G>A	ENSP00000353402:p.Ala492Val					AFAP1_ENST00000360265.4_Missense_Mutation_p.A492V|AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000358461.2_Missense_Mutation_p.A492V|AFAP1_ENST00000382543.3_Missense_Mutation_p.A492V	p.A492V	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN			12	1747	-			492					A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Missense_Mutation	SNP	ENST00000360265.4	37	c.1475C>T	CCDS3397.1	.	.	.	.	.	.	.	.	.	.	G	31	5.063454	0.93898	.	.	ENSG00000196526	ENST00000360265;ENST00000420658;ENST00000358461;ENST00000382543	T;T;T;T	0.19250	2.16;2.29;2.16;2.29	5.27	5.27	0.74061	.	0.110845	0.64402	D	0.000009	T	0.31295	0.0792	M	0.65975	2.015	0.58432	D	0.999994	P;B	0.51240	0.943;0.282	P;B	0.46144	0.505;0.047	T	0.04635	-1.0937	10	0.24483	T	0.36	-36.1517	18.916	0.92506	0.0:0.0:1.0:0.0	.	492;492	E9PDT7;Q8N556	.;AFAP1_HUMAN	V	492	ENSP00000353402:A492V;ENSP00000410689:A492V;ENSP00000351245:A492V;ENSP00000371983:A492V	ENSP00000351245:A492V	A	-	2	0	AFAP1	7838876	1.000000	0.71417	0.960000	0.40013	0.940000	0.58332	8.762000	0.91711	2.462000	0.83206	0.650000	0.86243	GCC		0.493	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246842.2	NM_021638		4	218	0	0	0	1	0	4	218				
TEP1	7011	broad.mit.edu	37	14	20846220	20846220	+	Missense_Mutation	SNP	G	G	A	rs553923395		TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr14:20846220G>A	ENST00000262715.5	-	39	5724	c.5684C>T	c.(5683-5685)gCg>gTg	p.A1895V	TEP1_ENST00000556935.1_Missense_Mutation_p.A1787V|TEP1_ENST00000545983.1_Missense_Mutation_p.A233V	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1895					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CTGGCAACCCGCATGCAGGAA	0.592													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18555	0.0		0.0	False		,,,				2504	0.0					ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(5683-5685)gCg>gTg		telomerase-associated protein 1							82.0	81.0	82.0					14																	20846220		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20846220G>A		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.5684C>T	14.37:g.20846220G>A	ENSP00000262715:p.Ala1895Val					TEP1_ENST00000556935.1_Missense_Mutation_p.A1787V|TEP1_ENST00000545983.1_Missense_Mutation_p.A233V	p.A1895V	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	39	5724	-	all_cancers(95;0.00123)	all_lung(585;0.235)	1895					A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.5684C>T	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.682249	0.29872	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935;ENST00000545983	T;T;T	0.51071	0.72;1.6;1.6	5.48	2.64	0.31445	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.670270	0.15490	N	0.259618	T	0.45677	0.1354	L	0.54323	1.7	0.09310	N	1	P;P;D;P	0.56035	0.753;0.89;0.974;0.91	B;B;P;B	0.47251	0.27;0.299;0.542;0.424	T	0.29971	-0.9994	10	0.49607	T	0.09	-2.5231	7.6231	0.28197	0.0766:0.0:0.6329:0.2906	.	233;1787;1238;1895	B4E0B6;G3V5X7;G3V2A4;Q99973	.;.;.;TEP1_HUMAN	V	1895;1895;1787;233	ENSP00000262715:A1895V;ENSP00000452574:A1787V;ENSP00000438849:A233V	ENSP00000262715:A1895V	A	-	2	0	TEP1	19916060	0.004000	0.15560	0.001000	0.08648	0.103000	0.19146	1.316000	0.33620	0.279000	0.22186	-1.214000	0.01621	GCG		0.592	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		3	82	0	0	0	1	0	3	82				
ZNF182	7569	broad.mit.edu	37	X	47837103	47837103	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chrX:47837103G>T	ENST00000396965.1	-	7	733	c.383C>A	c.(382-384)aCa>aAa	p.T128K	ZNF182_ENST00000305127.6_Missense_Mutation_p.T128K|ZNF182_ENST00000376943.3_Missense_Mutation_p.T109K	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	128					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)	p.T128K(1)		endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						GGTGATAATTGTTTTCTTGTC	0.388																																						ENST00000396965.1																			1	Substitution - Missense(1)	p.T128K(1)	prostate(1)	endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						c.(382-384)aCa>aAa		zinc finger protein 182							89.0	76.0	80.0					X																	47837103		2203	4300	6503	SO:0001583	missense	7569				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:47837103G>T	AK122874, R98366	CCDS35235.1, CCDS35236.1	Xp11.23	2013-01-08	2006-05-10	2006-05-10	ENSG00000147118	ENSG00000147118		"""Zinc fingers, C2H2-type"", ""-"""	13001	protein-coding gene	gene with protein product		314993	"""zinc finger protein 182 (HHZ150)"", ""zinc finger protein 21 (KOX 14)"""	ZNF21		8088786, 2014798, 8914609	Standard	NM_001178099		Approved	KOX14, HHZ150, Zfp182	uc004dit.3	P17025	OTTHUMG00000021460	ENST00000396965.1:c.383C>A	X.37:g.47837103G>T	ENSP00000380165:p.Thr128Lys					ZNF182_ENST00000376943.3_Missense_Mutation_p.T109K|ZNF182_ENST00000305127.6_Missense_Mutation_p.T128K	p.T128K	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN			7	733	-			128					A2IDD7|Q3KP67|Q96QH7	Missense_Mutation	SNP	ENST00000396965.1	37	c.383C>A	CCDS35236.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.760048	0.00657	.	.	ENSG00000147118	ENST00000376943;ENST00000396965;ENST00000305127	T;T;T	0.06933	3.24;3.24;3.24	3.95	-2.08	0.07254	.	.	.	.	.	T	0.06096	0.0158	L	0.41710	1.295	0.09310	N	1	B;B;B	0.13594	0.0;0.003;0.008	B;B;B	0.06405	0.002;0.002;0.002	T	0.40850	-0.9541	9	0.27785	T	0.31	.	5.1224	0.14867	0.4564:0.1487:0.3949:0.0	.	108;109;128	B4DRM0;Q96QH7;P17025	.;.;ZN182_HUMAN	K	109;128;128	ENSP00000366142:T109K;ENSP00000380165:T128K;ENSP00000306351:T128K	ENSP00000306351:T128K	T	-	2	0	ZNF182	47722047	0.028000	0.19301	0.000000	0.03702	0.151000	0.21798	-0.480000	0.06559	-0.547000	0.06207	0.523000	0.50628	ACA		0.388	ZNF182-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277055.1	NM_006962		6	63	1	0	2.0095e-06	1	2.13914e-06	6	63				
SUPT5H	6829	broad.mit.edu	37	19	39965235	39965235	+	Silent	SNP	G	G	T	rs138311423		TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr19:39965235G>T	ENST00000599117.1	+	29	3268	c.2901G>T	c.(2899-2901)acG>acT	p.T967T	SUPT5H_ENST00000402194.2_Silent_p.T963T|SUPT5H_ENST00000432763.2_Silent_p.T967T|SUPT5H_ENST00000598725.1_Silent_p.T967T|SUPT5H_ENST00000359191.6_Silent_p.T963T			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	967	Pro-rich.				7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)	p.T967T(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ACCCACACACGCCAGGCTCAG	0.607											OREG0025462	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000599117.1																			1	Substitution - coding silent(1)	p.T967T(1)	prostate(1)	breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51						c.(2899-2901)acG>acT		suppressor of Ty 5 homolog (S. cerevisiae)							75.0	65.0	68.0					19																	39965235		2203	4300	6503	SO:0001819	synonymous_variant	6829				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity	g.chr19:39965235G>T	U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"""suppressor of Ty (S.cerevisiae) 5 homolog"""			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.2901G>T	19.37:g.39965235G>T			OREG0025462	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	889	SUPT5H_ENST00000432763.2_Silent_p.T967T|SUPT5H_ENST00000598725.1_Silent_p.T967T|SUPT5H_ENST00000359191.6_Silent_p.T963T|SUPT5H_ENST00000402194.2_Silent_p.T963T	p.T967T			O00267	SPT5H_HUMAN	Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		29	3268	+	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		967			Pro-rich.		O43279|Q59G52|Q99639	Silent	SNP	ENST00000599117.1	37	c.2901G>T	CCDS12536.1																																																																																				0.607	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1	NM_003169		4	61	1	0	0.000602214	1	0.000621034	4	61				
NKX3-1	4824	broad.mit.edu	37	8	23538909	23538909	+	Missense_Mutation	SNP	T	T	C	rs373263457		TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr8:23538909T>C	ENST00000380871.4	-	2	567	c.530A>G	c.(529-531)tAt>tGt	p.Y177C	NKX3-1_ENST00000523261.1_Missense_Mutation_p.Y102C	NM_006167.3	NP_006158.2	Q99801	NKX31_HUMAN	NK3 homeobox 1	177					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|androgen receptor signaling pathway (GO:0030521)|branching involved in prostate gland morphogenesis (GO:0060442)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to drug (GO:0035690)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to steroid hormone stimulus (GO:0071383)|cellular response to tumor necrosis factor (GO:0071356)|dorsal aorta development (GO:0035907)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|heart development (GO:0007507)|male gonad development (GO:0008584)|metanephros development (GO:0001656)|mitotic cell cycle arrest (GO:0071850)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of transcription, DNA-templated (GO:0045892)|pharyngeal system development (GO:0060037)|positive regulation of androgen secretion (GO:2000836)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell death (GO:0010942)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein kinase B signaling (GO:0043491)|regulation of transcription, DNA-templated (GO:0006355)|response to testosterone (GO:0033574)|salivary gland development (GO:0007431)|somitogenesis (GO:0001756)|steroid hormone mediated signaling pathway (GO:0043401)	intracellular (GO:0005622)|nucleus (GO:0005634)	androgen receptor activity (GO:0004882)|core promoter binding (GO:0001047)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|histone deacetylase binding (GO:0042826)|protein kinase activator activity (GO:0030295)|protein self-association (GO:0043621)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.Y177C(2)		large_intestine(3)|lung(4)|prostate(5)|skin(2)	14		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)		CTTAGTCTTATAGCGTCTGTT	0.582																																						ENST00000380871.4																			2	Substitution - Missense(2)	p.Y177C(2)	prostate(2)	large_intestine(3)|lung(4)|prostate(5)|skin(2)	14						c.(529-531)tAt>tGt		NK3 homeobox 1		T	CYS/TYR	0,4406		0,0,2203	166.0	163.0	164.0		530	5.7	1.0	8		164	1,8599	1.2+/-3.3	0,1,4299	no	missense	NKX3-1	NM_006167.3	194	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging	177/235	23538909	1,13005	2203	4300	6503	SO:0001583	missense	4824				negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter	nucleus	estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding	g.chr8:23538909T>C		CCDS6042.1, CCDS59095.1	8p21.2	2012-03-09	2007-07-09	2002-10-04	ENSG00000167034	ENSG00000167034		"""Homeoboxes / ANTP class : NKL subclass"""	7838	protein-coding gene	gene with protein product		602041	"""NK homeobox (Drosophila), family 3, A"", ""NK3 transcription factor related, locus 1 (Drosophila)"""	NKX3A		9226374	Standard	NM_006167		Approved	NKX3.1, BAPX2	uc011kzx.2	Q99801	OTTHUMG00000097851	ENST00000380871.4:c.530A>G	8.37:g.23538909T>C	ENSP00000370253:p.Tyr177Cys					NKX3-1_ENST00000523261.1_Missense_Mutation_p.Y102C	p.Y177C	NM_006167.3	NP_006158.2	Q99801	NKX31_HUMAN		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)	2	567	-		Prostate(55;0.114)	177					O15465|Q9H2P4|Q9H2P5|Q9H2P6|Q9H2P7|Q9HBG0	Missense_Mutation	SNP	ENST00000380871.4	37	c.530A>G	CCDS6042.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.357538	0.82243	0.0	1.16E-4	ENSG00000167034	ENST00000380871;ENST00000300332;ENST00000523261	D;D	0.96265	-3.96;-3.96	5.66	5.66	0.87406	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.084010	0.49305	D	0.000157	D	0.98027	0.9350	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98844	1.0756	10	0.87932	D	0	.	14.1488	0.65367	0.0:0.0:0.0:1.0	.	177	Q99801	NKX31_HUMAN	C	177;133;102	ENSP00000370253:Y177C;ENSP00000429729:Y102C	ENSP00000300332:Y133C	Y	-	2	0	NKX3-1	23594854	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.975000	0.88055	2.285000	0.76669	0.533000	0.62120	TAT		0.582	NKX3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215141.2			80	250	0	0	0	1	0	80	250				
PKHD1	5314	broad.mit.edu	37	6	51947198	51947198	+	Silent	SNP	G	G	A			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr6:51947198G>A	ENST00000371117.3	-	4	548	c.273C>T	c.(271-273)tgC>tgT	p.C91C	PKHD1_ENST00000340994.4_Silent_p.C91C	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	91	IPT/TIG 1; atypical.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.C91C(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ACCTGGTCCGGCATGTCACCA	0.478																																						ENST00000371117.3																			2	Substitution - coding silent(2)	p.C91C(2)	kidney(2)	NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(271-273)tgC>tgT		polycystic kidney and hepatic disease 1 (autosomal recessive)							167.0	176.0	173.0					6																	51947198		2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51947198G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.273C>T	6.37:g.51947198G>A						PKHD1_ENST00000340994.4_Silent_p.C91C	p.C91C	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			4	548	-	Lung NSC(77;0.0605)		91			IPT/TIG 1; atypical.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.273C>T	CCDS4935.1																																																																																				0.478	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		4	294	0	0	0	1	0	4	294				
IGHMBP2	3508	broad.mit.edu	37	11	68682435	68682435	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr11:68682435C>T	ENST00000255078.3	+	6	967	c.856C>T	c.(856-858)Cgg>Tgg	p.R286W		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	286	Leu-rich.				ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)	p.R286W(2)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GGTTTTAGCGCGGAGCGACAG	0.597																																						ENST00000255078.3																			2	Substitution - Missense(2)	p.R286W(2)	large_intestine(1)|prostate(1)	central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(856-858)Cgg>Tgg		immunoglobulin mu binding protein 2							112.0	100.0	104.0					11																	68682435		2200	4294	6494	SO:0001583	missense	3508				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding	g.chr11:68682435C>T	L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"""Zinc fingers, AN1-type domain containing"""	5542	protein-coding gene	gene with protein product	"""cardiac transcription factor 1"", ""zinc finger, AN1-type domain 7"""	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.856C>T	11.37:g.68682435C>T	ENSP00000255078:p.Arg286Trp						p.R286W	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		6	967	+			286			Leu-rich.		A0PJD2|Q00443|Q14177	Missense_Mutation	SNP	ENST00000255078.3	37	c.856C>T	CCDS8187.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.464362	0.43736	.	.	ENSG00000132740	ENST00000255078	D	0.83163	-1.69	3.71	2.77	0.32553	DEAD-like helicase (1);Helicase/UvrB domain (1);ATPase, AAA+ type, core (1);	0.267991	0.38381	N	0.001711	D	0.88190	0.6370	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.88114	0.2827	10	0.72032	D	0.01	-8.166	11.4816	0.50328	0.1818:0.8182:0.0:0.0	.	286	P38935	SMBP2_HUMAN	W	286	ENSP00000255078:R286W	ENSP00000255078:R286W	R	+	1	2	IGHMBP2	68439011	0.993000	0.37304	0.010000	0.14722	0.048000	0.14542	3.372000	0.52387	0.868000	0.35678	0.555000	0.69702	CGG		0.597	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396862.1	NM_002180		37	135	0	0	0	1	0	37	135				
SLCO6A1	133482	broad.mit.edu	37	5	101813486	101813486	+	Silent	SNP	G	G	A	rs145273103		TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr5:101813486G>A	ENST00000506729.1	-	3	867	c.696C>T	c.(694-696)ttC>ttT	p.F232F	SLCO6A1_ENST00000389019.3_Intron|SLCO6A1_ENST00000514551.1_Intron|SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000379807.3_Silent_p.F232F			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.F232F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		GCCCAAGGATGAAGAAAGACA	0.383																																						ENST00000506729.1																			1	Substitution - coding silent(1)	p.F232F(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(694-696)ttC>ttT		solute carrier organic anion transporter family, member 6A1		G		1,4405	2.1+/-5.4	0,1,2202	172.0	166.0	168.0		696	2.6	0.0	5	dbSNP_134	168	0,8600		0,0,4300	no	coding-synonymous	SLCO6A1	NM_173488.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		232/720	101813486	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101813486G>A	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.696C>T	5.37:g.101813486G>A						SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000379807.3_Silent_p.F232F|SLCO6A1_ENST00000389019.3_Intron|SLCO6A1_ENST00000514551.1_Intron|SLCO6A1_ENST00000379810.1_Intron	p.F232F			Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	3	867	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	232					A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Silent	SNP	ENST00000506729.1	37	c.696C>T	CCDS34206.1																																																																																				0.383	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		77	206	0	0	0	1	0	77	206				
GRID1	2894	broad.mit.edu	37	10	87628819	87628819	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr10:87628819C>T	ENST00000327946.7	-	6	984	c.899G>A	c.(898-900)cGc>cAc	p.R300H		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	300					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.R300H(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						GGAGGAGATGCGGTGGTTGTT	0.567										Multiple Myeloma(13;0.14)																												ENST00000327946.7																			1	Substitution - Missense(1)	p.R300H(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						c.(898-900)cGc>cAc		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						202.0	151.0	168.0					10																	87628819		2203	4300	6503	SO:0001583	missense	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87628819C>T	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.899G>A	10.37:g.87628819C>T	ENSP00000330148:p.Arg300His	Multiple Myeloma(13;0.14)					p.R300H	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN			6	984	-			300					B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.899G>A	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.804028	0.90623	.	.	ENSG00000182771	ENST00000327946	D	0.86097	-2.07	5.71	5.71	0.89125	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.91646	0.7360	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.91965	0.5582	10	0.87932	D	0	.	18.8388	0.92174	0.0:1.0:0.0:0.0	.	300	Q9ULK0	GRID1_HUMAN	H	300	ENSP00000330148:R300H	ENSP00000330148:R300H	R	-	2	0	GRID1	87618799	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	7.742000	0.85008	2.686000	0.91538	0.655000	0.94253	CGC		0.567	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		41	55	0	0	0	1	0	41	55				
COPS6	10980	broad.mit.edu	37	7	99686977	99686977	+	Silent	SNP	C	C	G			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr7:99686977C>G	ENST00000303904.3	+	2	178	c.141C>G	c.(139-141)gtC>gtG	p.V47V	COPS6_ENST00000418625.1_Silent_p.V46V	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	COP9 signalosome subunit 6	47	MPN.				cullin deneddylation (GO:0010388)|viral process (GO:0016032)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.V47V(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			ATCCCCTTGTCATTCTCAACA	0.592																																						ENST00000303904.3																			1	Substitution - coding silent(1)	p.V47V(1)	prostate(1)	breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12						c.(139-141)gtC>gtG		COP9 signalosome subunit 6							150.0	139.0	143.0					7																	99686977		2203	4300	6503	SO:0001819	synonymous_variant	10980				cullin deneddylation|interspecies interaction between organisms	cytoplasm|signalosome	protein binding	g.chr7:99686977C>G	BC002520	CCDS5682.1	7q22.1	2013-03-14	2013-03-14		ENSG00000168090	ENSG00000168090			21749	protein-coding gene	gene with protein product	"""COP9 subunit 6 (MOV34 homolog, 34 kD)"""	614729	"""COP9 constitutive photomorphogenic homolog subunit 6 (Arabidopsis)"""			12477932	Standard	NM_006833		Approved	MOV34-34KD, CSN6	uc003usu.3	Q7L5N1	OTTHUMG00000154632	ENST00000303904.3:c.141C>G	7.37:g.99686977C>G						COPS6_ENST00000418625.1_Silent_p.V46V	p.V47V	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		2	178	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		47			MPN.		A4D2A3|O15387	Silent	SNP	ENST00000303904.3	37	c.141C>G	CCDS5682.1																																																																																				0.592	COPS6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336412.3	NM_006833		75	191	0	0	0	1	0	75	191				
ITGA4	3676	broad.mit.edu	37	2	182376434	182376434	+	Silent	SNP	T	T	C			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr2:182376434T>C	ENST00000397033.2	+	17	2284	c.1854T>C	c.(1852-1854)ttT>ttC	p.F618F		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	618					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)	p.F618F(2)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	AGATAAACTTTGCAAGGTTTT	0.303																																						ENST00000397033.2																			2	Substitution - coding silent(2)	p.F618F(2)	prostate(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(1852-1854)ttT>ttC		integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	Natalizumab(DB00108)						132.0	124.0	127.0					2																	182376434		1796	4065	5861	SO:0001819	synonymous_variant	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182376434T>C		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1854T>C	2.37:g.182376434T>C							p.F618F	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		17	2284	+			618					D3DPG4|Q7Z4L6	Silent	SNP	ENST00000397033.2	37	c.1854T>C	CCDS42788.1																																																																																				0.303	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			62	181	0	0	0	1	0	62	181				
GPR160	26996	broad.mit.edu	37	3	169802125	169802125	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr3:169802125T>C	ENST00000355897.5	+	4	973	c.365T>C	c.(364-366)cTg>cCg	p.L122P		NM_014373.2	NP_055188.1	Q9UJ42	GP160_HUMAN	G protein-coupled receptor 160	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)	8	all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GATTATTGCCTGAATTTCTCT	0.289																																						ENST00000355897.5																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)	8						c.(364-366)cTg>cCg		G protein-coupled receptor 160							46.0	49.0	48.0					3																	169802125		2203	4299	6502	SO:0001583	missense	26996					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:169802125T>C	AB083583	CCDS3211.1	3q26.2-q27	2012-08-21			ENSG00000173890	ENSG00000173890		"""GPCR / Class A : Orphans"""	23693	protein-coding gene	gene with protein product						12044878	Standard	NM_014373		Approved	GPCR150, GPCR1	uc003fgi.3	Q9UJ42	OTTHUMG00000158776	ENST00000355897.5:c.365T>C	3.37:g.169802125T>C	ENSP00000348161:p.Leu122Pro						p.L122P	NM_014373.2	NP_055188.1	Q9UJ42	GP160_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)		4	973	+	all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		122					D3DNQ2	Missense_Mutation	SNP	ENST00000355897.5	37	c.365T>C	CCDS3211.1	.	.	.	.	.	.	.	.	.	.	T	9.713	1.157618	0.21454	.	.	ENSG00000173890	ENST00000355897;ENST00000485735;ENST00000473675	T;T;T	0.14391	2.51;2.51;2.51	5.8	4.63	0.57726	GPCR, rhodopsin-like superfamily (1);	0.812882	0.11040	N	0.606276	T	0.19846	0.0477	L	0.29908	0.895	0.09310	N	0.999995	D	0.60575	0.988	P	0.56700	0.804	T	0.13575	-1.0504	10	0.62326	D	0.03	.	8.6601	0.34088	0.0:0.0688:0.1341:0.7971	.	122	Q9UJ42	GP160_HUMAN	P	122	ENSP00000348161:L122P;ENSP00000419546:L122P;ENSP00000420751:L122P	ENSP00000348161:L122P	L	+	2	0	GPR160	171284819	0.117000	0.22190	0.011000	0.14972	0.014000	0.08584	1.828000	0.39111	1.009000	0.39289	0.528000	0.53228	CTG		0.289	GPR160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352167.1	NM_014373		3	101	0	0	0	1	0	3	101				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	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		4	100	0	0	0	1	0	4	100				
VGLL4	9686	broad.mit.edu	37	3	11744501	11744501	+	De_novo_Start_OutOfFrame	SNP	G	G	A	rs376550793		TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr3:11744501G>A	ENST00000404339.1	-	0	358				VGLL4_ENST00000273038.3_Missense_Mutation_p.T3M			Q14135	VGLL4_HUMAN	vestigial-like family member 4						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.T3M(1)		NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		ATCCAATGGCGTCTCCATTCC	0.368																																						ENST00000404339.1																			1	Substitution - Missense(1)	p.T3M(1)	prostate(1)	NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10								vestigial like 4 (Drosophila)		G	MET/THR	0,4406		0,0,2203	53.0	54.0	54.0		8	4.4	0.9	3		54	1,8599	1.2+/-3.3	0,1,4299	no	missense	VGLL4	NM_014667.2	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		3/291	11744501	1,13005	2203	4300	6503			9686				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:11744501G>A	D50911	CCDS2606.1, CCDS46754.1, CCDS46755.1, CCDS46756.1, CCDS68342.1, CCDS68343.1	3p25.2	2014-03-03	2014-03-03		ENSG00000144560	ENSG00000144560			28966	protein-coding gene	gene with protein product			"""vestigial like 4 (Drosophila)"""			8590280, 15140898	Standard	NM_001284390		Approved	KIAA0121	uc010hdx.1	Q14135	OTTHUMG00000129739	ENST00000404339.1:c.-111C>T	3.37:g.11744501G>A						VGLL4_ENST00000273038.3_Missense_Mutation_p.T3M				Q14135	VGLL4_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)	0	358	-								B4DTS7|J3KN68|Q7L5V0|Q9BQ78	Translation_Start_Site	SNP	ENST00000404339.1	37			.	.	.	.	.	.	.	.	.	.	G	11.59	1.684479	0.29872	0.0	1.16E-4	ENSG00000144560	ENST00000273038;ENST00000445411;ENST00000418000;ENST00000417206;ENST00000419541	T;T;T;T;T	0.52754	0.67;0.67;0.71;0.65;0.66	5.28	4.41	0.53225	.	0.459089	0.23016	N	0.052908	T	0.17959	0.0431	N	0.01410	-0.885	0.80722	D	1	P	0.46952	0.887	B	0.36030	0.216	T	0.20706	-1.0267	10	0.87932	D	0	.	9.9396	0.41572	0.0945:0.0:0.9055:0.0	.	3	Q14135	VGLL4_HUMAN	M	3	ENSP00000273038:T3M;ENSP00000412923:T3M;ENSP00000394439:T3M;ENSP00000391932:T3M;ENSP00000395557:T3M	ENSP00000273038:T3M	T	-	2	0	VGLL4	11719501	1.000000	0.71417	0.875000	0.34327	0.987000	0.75469	4.954000	0.63631	1.358000	0.45922	0.462000	0.41574	ACG		0.368	VGLL4-201	KNOWN	basic	protein_coding	protein_coding		NM_014667		11	44	0	0	0	1	0	11	44				
GMDS	2762	broad.mit.edu	37	6	1624710	1624710	+	Silent	SNP	G	G	A			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr6:1624710G>A	ENST00000380815.4	-	10	1322	c.1053C>T	c.(1051-1053)ttC>ttT	p.F351F	GMDS_ENST00000467288.2_5'UTR|GMDS_ENST00000530927.1_Silent_p.F321F	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	351					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|GDP-mannose metabolic process (GO:0019673)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	GDP-mannose 4,6-dehydratase activity (GO:0008446)|NADP+ binding (GO:0070401)	p.F351F(1)	GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		TACTCACATCGAAAGCGACCC	0.667																																						ENST00000380815.4																		GMDS/PDE8B(2)	1	Substitution - coding silent(1)	p.F351F(1)	prostate(1)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21						c.(1051-1053)ttC>ttT		GDP-mannose 4,6-dehydratase							35.0	37.0	36.0					6																	1624710		2203	4300	6503	SO:0001819	synonymous_variant	2762				'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity	g.chr6:1624710G>A	AF042377	CCDS4474.1, CCDS58994.1	6p25	2011-09-14			ENSG00000112699	ENSG00000112699	4.2.1.47	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	4369	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 3E, member 1"""	602884				9525924, 19027726	Standard	NM_001500		Approved	GMD, SDR3E1	uc003mtq.3	O60547	OTTHUMG00000016143	ENST00000380815.4:c.1053C>T	6.37:g.1624710G>A						GMDS_ENST00000530927.1_Silent_p.F321F|GMDS_ENST00000467288.2_5'UTR	p.F351F	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)	10	1322	-	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)	351					E9PI88|O75357|Q5T954|Q6FH09|Q9UGZ3|Q9UJK9	Silent	SNP	ENST00000380815.4	37	c.1053C>T	CCDS4474.1																																																																																				0.667	GMDS-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043380.3			3	24	0	0	0	1	0	3	24				
RAI14	26064	broad.mit.edu	37	5	34826505	34826505	+	Nonsense_Mutation	SNP	C	C	G	rs373518288		TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr5:34826505C>G	ENST00000265109.3	+	16	3007	c.2720C>G	c.(2719-2721)tCa>tGa	p.S907*	RAI14_ENST00000512629.1_Nonsense_Mutation_p.S878*|RAI14_ENST00000428746.2_Nonsense_Mutation_p.S907*|RAI14_ENST00000506376.1_Nonsense_Mutation_p.S899*|RAI14_ENST00000515799.1_Nonsense_Mutation_p.S910*|RAI14_ENST00000503673.1_Nonsense_Mutation_p.S907*|RAI14_ENST00000397449.1_Nonsense_Mutation_p.S900*	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	907						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.S907*(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					CTCTCCTACTCAACAAGCTCA	0.512																																						ENST00000265109.3																			1	Substitution - Nonsense(1)	p.S907*(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(2719-2721)tCa>tGa		retinoic acid induced 14							77.0	78.0	78.0					5																	34826505		2203	4300	6503	SO:0001587	stop_gained	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34826505C>G	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.2720C>G	5.37:g.34826505C>G	ENSP00000265109:p.Ser907*					RAI14_ENST00000515799.1_Nonsense_Mutation_p.S910*|RAI14_ENST00000506376.1_Nonsense_Mutation_p.S899*|RAI14_ENST00000397449.1_Nonsense_Mutation_p.S900*|RAI14_ENST00000503673.1_Nonsense_Mutation_p.S907*|RAI14_ENST00000428746.2_Nonsense_Mutation_p.S907*|RAI14_ENST00000512629.1_Nonsense_Mutation_p.S878*	p.S907*	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN			16	3007	+	all_lung(31;0.000191)		907					E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Nonsense_Mutation	SNP	ENST00000265109.3	37	c.2720C>G	CCDS34142.1	.	.	.	.	.	.	.	.	.	.	C	42	9.502472	0.99189	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-4.2568	18.6096	0.91279	0.0:1.0:0.0:0.0	.	.	.	.	X	907;878;907;907;910;899;900	.	ENSP00000265109:S907X	S	+	2	0	RAI14	34862262	1.000000	0.71417	0.968000	0.41197	0.995000	0.86356	4.571000	0.60879	2.483000	0.83821	0.561000	0.74099	TCA		0.512	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		28	67	0	0	0	1	0	28	67				
MT-CO1	4512	broad.mit.edu	37	M	6709	6709	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chrM:6709G>A	ENST00000361624.2	+	1	806	c.806G>A	c.(805-807)gGa>gAa	p.G269E	MT-TY_ENST00000387409.1_RNA|MT-TW_ENST00000387382.1_RNA|MT-CO3_ENST00000362079.2_5'Flank|MT-TI_ENST00000387365.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-TD_ENST00000387419.1_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-CO2_ENST00000361739.1_5'Flank|MT-TN_ENST00000387400.1_RNA|MT-TC_ENST00000387405.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-TK_ENST00000387421.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TM_ENST00000387377.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I	269					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						AGAACCATTTGGATACATAGG	0.393																																						ENST00000361624.2																			0				breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						c.(805-807)gGa>gAa		mitochondrially encoded cytochrome c oxidase I																																				SO:0001583	missense	4512							g.chrM:6709G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395		ENST00000361624.2:c.806G>A	M.37:g.6709G>A	ENSP00000354499:p.Gly269Glu						p.269_269insE							1	806	+								Q34770	Missense_Mutation	SNP	ENST00000361624.2	37	c.806G>A																																																																																					0.393	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024028		2	1	0	0	0	1	0	2	1				
HCRTR2	3062	broad.mit.edu	37	6	55147206	55147206	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr6:55147206G>A	ENST00000370862.3	+	7	1625	c.1289G>A	c.(1288-1290)aGc>aAc	p.S430N		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	430					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)	p.S430N(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ACTAGCATAAGCACACTCCCA	0.408																																						ENST00000370862.3																			1	Substitution - Missense(1)	p.S430N(1)	prostate(1)	breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(1288-1290)aGc>aAc		hypocretin (orexin) receptor 2							55.0	47.0	50.0					6																	55147206		2203	4300	6503	SO:0001583	missense	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55147206G>A	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.1289G>A	6.37:g.55147206G>A	ENSP00000359899:p.Ser430Asn						p.S430N	NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		7	1625	+	Lung NSC(77;0.107)|Renal(3;0.122)		430					Q5VTM0	Missense_Mutation	SNP	ENST00000370862.3	37	c.1289G>A	CCDS4956.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.608216	0.28623	.	.	ENSG00000137252	ENST00000370862	T	0.61392	0.11	5.36	4.48	0.54585	.	0.136815	0.52532	D	0.000069	T	0.12050	0.0293	N	0.08118	0	0.26363	N	0.977016	B	0.06786	0.001	B	0.08055	0.003	T	0.18650	-1.0330	10	0.15066	T	0.55	.	4.7651	0.13128	0.1891:0.1955:0.6154:0.0	.	430	O43614	OX2R_HUMAN	N	430	ENSP00000359899:S430N	ENSP00000359899:S430N	S	+	2	0	HCRTR2	55255165	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.111000	0.41883	1.239000	0.43787	0.650000	0.86243	AGC		0.408	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			11	25	0	0	0	1	0	11	25				
PDZRN3	23024	broad.mit.edu	37	3	73432968	73432968	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr3:73432968G>A	ENST00000263666.4	-	10	2863	c.2749C>T	c.(2749-2751)Ccg>Tcg	p.P917S	PDZRN3_ENST00000535920.1_Missense_Mutation_p.P639S|PDZRN3_ENST00000462146.2_Missense_Mutation_p.P574S|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000466780.1_Missense_Mutation_p.P574S|PDZRN3_ENST00000479530.1_Missense_Mutation_p.P634S	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	917					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TCCATGCGCGGCTCCGACGGG	0.652																																						ENST00000263666.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(2749-2751)Ccg>Tcg		PDZ domain containing ring finger 3							51.0	46.0	48.0					3																	73432968		2203	4300	6503	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73432968G>A	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.2749C>T	3.37:g.73432968G>A	ENSP00000263666:p.Pro917Ser					PDZRN3_ENST00000479530.1_Missense_Mutation_p.P634S|PDZRN3_ENST00000462146.2_Missense_Mutation_p.P574S|PDZRN3_ENST00000466780.1_Missense_Mutation_p.P574S|PDZRN3_ENST00000535920.1_Missense_Mutation_p.P639S	p.P917S	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	2863	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	917					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.2749C>T	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.699383	0.48307	.	.	ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	5.4	4.53	0.55603	.	0.106561	0.64402	D	0.000003	T	0.41880	0.1178	L	0.50333	1.59	0.80722	D	1	B;P;B;P	0.49090	0.247;0.919;0.403;0.819	B;B;B;B	0.43413	0.298;0.419;0.371;0.272	T	0.32955	-0.9887	10	0.40728	T	0.16	.	15.6261	0.76859	0.0:0.1462:0.8538:0.0	.	639;634;634;917	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.;.;.;PZRN3_HUMAN	S	917;639;574;574;634	ENSP00000263666:P917S;ENSP00000442026:P639S;ENSP00000418168:P574S;ENSP00000418484:P574S;ENSP00000418624:P634S	ENSP00000263666:P917S	P	-	1	0	PDZRN3	73515658	1.000000	0.71417	0.139000	0.22197	0.243000	0.25628	4.393000	0.59665	1.254000	0.44035	0.655000	0.94253	CCG		0.652	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		3	81	0	0	0	1	0	3	81				
SPTA1	6708	broad.mit.edu	37	1	158585065	158585065	+	Silent	SNP	G	G	A			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr1:158585065G>A	ENST00000368147.4	-	48	6909	c.6729C>T	c.(6727-6729)gaC>gaT	p.D2243D		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2243					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.D2243D(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GGTAGAGCTGGTCCCACTGCT	0.542																																						ENST00000368148.3																			1	Substitution - coding silent(1)	p.D2243D(1)	prostate(1)	NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(6727-6729)gaC>gaT		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							162.0	169.0	167.0					1																	158585065		2125	4244	6369	SO:0001819	synonymous_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158585065G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6729C>T	1.37:g.158585065G>A						SPTA1_ENST00000368147.3_Silent_p.D2240D	p.D2243D	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			48	6909	-	all_hematologic(112;0.0378)		2243					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.6729C>T	CCDS41423.1																																																																																				0.542	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		87	233	0	0	0	1	0	87	233				
MUSK	4593	broad.mit.edu	37	9	113547892	113547892	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr9:113547892C>T	ENST00000374448.4	+	13	1806	c.1672C>T	c.(1672-1674)Ccg>Tcg	p.P558S	MUSK_ENST00000416899.2_Missense_Mutation_p.P550S|MUSK_ENST00000374438.1_Missense_Mutation_p.P74S|MUSK_ENST00000189978.5_Missense_Mutation_p.P558S	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	558					cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						CCAGAGGATGCCGCTCCTTCT	0.498																																						ENST00000416899.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						c.(1648-1650)Ccg>Tcg		muscle, skeletal, receptor tyrosine kinase							215.0	207.0	209.0					9																	113547892		1966	4156	6122	SO:0001583	missense	4593				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:113547892C>T	AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.1672C>T	9.37:g.113547892C>T	ENSP00000363571:p.Pro558Ser					MUSK_ENST00000374438.1_Missense_Mutation_p.P74S|MUSK_ENST00000189978.5_Missense_Mutation_p.P558S|MUSK_ENST00000374448.4_Missense_Mutation_p.P558S	p.P550S			O15146	MUSK_HUMAN			11	1774	+			558					Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	ENST00000374448.4	37	c.1648C>T	CCDS48005.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.084498	0.76642	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000374441;ENST00000416899;ENST00000374438	T;D	0.88664	-0.83;-2.41	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.92394	0.7586	L	0.45228	1.405	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90595	0.4540	10	0.33940	T	0.23	.	19.1684	0.93567	0.0:1.0:0.0:0.0	.	558	O15146	MUSK_HUMAN	S	564;558;558;472;472;74;556;74	ENSP00000363571:P558S;ENSP00000363561:P74S	ENSP00000189978:P564S	P	+	1	0	MUSK	112587713	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.777000	0.95525	0.655000	0.94253	CCG		0.498	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				4	253	0	0	0	1	0	4	253				
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C	rs370761877		TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	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	51	0	0	0	1	0	4	51				
EEF1DP3	196549	broad.mit.edu	37	13	32527029	32527029	+	RNA	SNP	C	C	A			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr13:32527029C>A	ENST00000428783.1	+	0	729							Q658K8	EF1DL_HUMAN	eukaryotic translation elongation factor 1 delta pseudogene 3								translation elongation factor activity (GO:0003746)										TGCCCGGCCACTGGGCCACAG	0.642																																						ENST00000428783.1																			0																				10.0	14.0	13.0					13																	32527029		692	1591	2283			0							g.chr13:32527029C>A			13q13.1	2012-10-23			ENSG00000229715	ENSG00000229715			30486	pseudogene	pseudogene						12477932	Standard	NR_027062		Approved		uc001utu.3	Q658K8	OTTHUMG00000016691		13.37:g.32527029C>A														0	729	+								Q08AR3	RNA	SNP	ENST00000428783.1	37																																																																																						0.642	EEF1DP3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000044400.2	NR_027062		10	19	1	0	0.000673444	1	0.000683805	10	19				
KRTAP5-4	387267	broad.mit.edu	37	11	1643252	1643252	+	Silent	SNP	A	A	G	rs190925107		TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr11:1643252A>G	ENST00000399682.1	-	1	116	c.72T>C	c.(70-72)tgT>tgC	p.C24C		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0						keratin filament (GO:0045095)		p.C24C(5)		NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		agccagagccacagcccccac	0.687																																						ENST00000399682.1																			5	Substitution - coding silent(5)	p.C24C(5)	endometrium(4)|prostate(1)	NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20						c.(70-72)tgT>tgC		keratin associated protein 5-4																																				SO:0001819	synonymous_variant	387267					keratin filament		g.chr11:1643252A>G	AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"""Keratin associated proteins"""	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.72T>C	11.37:g.1643252A>G							p.C24C	NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	116	-		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	24						Silent	SNP	ENST00000399682.1	37	c.72T>C																																																																																					0.687	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709		4	43	0	0	0	1	0	4	43				
RP11-464F9.1	0	broad.mit.edu	37	10	75482316	75482316	+	RNA	SNP	G	G	A			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr10:75482316G>A	ENST00000399449.3	-	0	526				RP11-574K11.28_ENST00000580790.1_RNA|BMS1P4_ENST00000584747.1_RNA																							CCCAAAGCTGGCATCTATAAG	0.428																																						ENST00000399449.3																			0																																																			0							g.chr10:75482316G>A																													10.37:g.75482316G>A						BMS1P4_ENST00000584747.1_RNA|RP11-574K11.28_ENST00000580790.1_RNA								0	526	-									RNA	SNP	ENST00000399449.3	37																																																																																						0.428	RP11-464F9.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000048674.2			4	228	0	0	0	1	0	4	228				
ANKRD20A11P	391267	broad.mit.edu	37	21	15352131	15352131	+	RNA	SNP	G	G	C			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr21:15352131G>C	ENST00000344693.5	-	0	627					NR_027270.1				ankyrin repeat domain 20 family, member A11, pseudogene									p.S32W(1)									CTGCAGTTCCGAGTACCGGAT	0.632																																						ENST00000344693.5																			1	Substitution - Missense(1)	p.S32W(1)	prostate(1)																																																0							g.chr21:15352131G>C			21q11.2	2011-11-23			ENSG00000215559	ENSG00000215559			42024	pseudogene	pseudogene			"""chromosome 21 open reading frame 81"""	C21orf81			Standard	NR_027270		Approved		uc002yjj.4		OTTHUMG00000074237		21.37:g.15352131G>C								NR_027270.1						0	627	-									RNA	SNP	ENST00000344693.5	37																																																																																						0.632	ANKRD20A11P-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157750.1			7	15	0	0	0	1	0	7	15				
LRCH4	4034	broad.mit.edu	37	7	100172836	100172836	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr7:100172836G>A	ENST00000310300.6	-	18	1998	c.1946C>T	c.(1945-1947)gCc>gTc	p.A649V	SAP25_ENST00000538735.1_5'Flank|LRCH4_ENST00000497245.1_Missense_Mutation_p.A197V	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	649	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				nervous system development (GO:0007399)	PML body (GO:0016605)		p.A649V(1)		NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGGCGGTAGGGCCTTGCCCCC	0.697																																						ENST00000310300.6																			1	Substitution - Missense(1)	p.A649V(1)	prostate(1)	NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23						c.(1945-1947)gCc>gTc		leucine-rich repeats and calponin homology (CH) domain containing 4							35.0	31.0	32.0					7																	100172836		2198	4292	6490	SO:0001583	missense	4034				nervous system development	PML body	protein binding	g.chr7:100172836G>A	AF053356	CCDS34706.1	7q22	2008-05-20	2004-05-27	2004-05-28	ENSG00000077454	ENSG00000077454			6691	protein-coding gene	gene with protein product				LRN, LRRN1		9799793	Standard	XM_005250346		Approved		uc003uvj.3	O75427	OTTHUMG00000159544	ENST00000310300.6:c.1946C>T	7.37:g.100172836G>A	ENSP00000309689:p.Ala649Val					LRCH4_ENST00000497245.1_Missense_Mutation_p.A197V	p.A649V	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN			18	1998	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		649			CH.		A4D2D5|Q8WV85|Q96ID0	Missense_Mutation	SNP	ENST00000310300.6	37	c.1946C>T	CCDS34706.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.005612	0.54254	.	.	ENSG00000077454	ENST00000310300;ENST00000422462;ENST00000497245	T;T	0.46451	1.45;0.87	4.76	3.88	0.44766	.	0.540943	0.18127	N	0.150852	T	0.40171	0.1106	M	0.66939	2.045	0.25192	N	0.990123	B	0.06786	0.001	B	0.04013	0.001	T	0.35748	-0.9776	10	0.51188	T	0.08	-2.2102	9.0038	0.36100	0.1033:0.0:0.8967:0.0	.	649	O75427	LRCH4_HUMAN	V	649;108;197	ENSP00000309689:A649V;ENSP00000419870:A197V	ENSP00000309689:A649V	A	-	2	0	LRCH4	100010772	0.421000	0.25465	0.873000	0.34254	0.304000	0.27724	1.548000	0.36201	1.027000	0.39758	0.555000	0.69702	GCC		0.697	LRCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356110.1	NM_002319		5	13	0	0	0	1	0	5	13				
OLFM2	93145	broad.mit.edu	37	19	9965490	9965490	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr19:9965490C>T	ENST00000264833.4	-	6	922	c.737G>A	c.(736-738)cGt>cAt	p.R246H	OLFM2_ENST00000590841.1_Missense_Mutation_p.R168H	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	246	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				protein secretion (GO:0009306)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular region (GO:0005576)|synapse (GO:0045202)		p.R246H(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						TCCCAGGGTACGGAACTCCAG	0.612																																						ENST00000264833.4																			1	Substitution - Missense(1)	p.R246H(1)	prostate(1)	breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						c.(736-738)cGt>cAt		olfactomedin 2							32.0	34.0	33.0					19																	9965490		2203	4300	6503	SO:0001583	missense	93145					extracellular region		g.chr19:9965490C>T	AF131839	CCDS12221.1	19p13.2	2008-07-03				ENSG00000105088			17189	protein-coding gene	gene with protein product	"""noelin 2"""						Standard	NM_058164		Approved	OlfC, NOE2	uc002mmp.3	O95897		ENST00000264833.4:c.737G>A	19.37:g.9965490C>T	ENSP00000264833:p.Arg246His					OLFM2_ENST00000590841.1_Missense_Mutation_p.R168H	p.R246H	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN			6	922	-			246			Olfactomedin-like.		Q6IMJ3|Q96FC2	Missense_Mutation	SNP	ENST00000264833.4	37	c.737G>A	CCDS12221.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.843936	0.71488	.	.	ENSG00000105088	ENST00000264833	D	0.89681	-2.55	4.45	4.45	0.53987	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.92080	0.7490	M	0.76170	2.325	0.46298	D	0.998974	D	0.69078	0.997	D	0.64144	0.922	D	0.91478	0.5202	9	.	.	.	.	8.2584	0.31771	0.0:0.8945:0.0:0.1055	.	246	O95897	NOE2_HUMAN	H	246	ENSP00000264833:R246H	.	R	-	2	0	OLFM2	9826490	0.917000	0.31117	1.000000	0.80357	0.995000	0.86356	1.907000	0.39897	2.291000	0.77112	0.561000	0.74099	CGT		0.612	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451119.1			6	23	0	0	0	1	0	6	23				
PTK7	5754	broad.mit.edu	37	6	43106701	43106701	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr6:43106701A>G	ENST00000230419.4	+	8	1564	c.1343A>G	c.(1342-1344)aAc>aGc	p.N448S	PTK7_ENST00000349241.2_Intron|PTK7_ENST00000352931.2_Missense_Mutation_p.N448S|PTK7_ENST00000481273.1_Missense_Mutation_p.N456S|PTK7_ENST00000345201.2_Missense_Mutation_p.N448S	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	448	Ig-like C2-type 5.				actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			TGGTACAGAAACCAGATGCTC	0.557																																						ENST00000230419.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(1342-1344)aAc>aGc		protein tyrosine kinase 7							79.0	74.0	76.0					6																	43106701		2203	4300	6503	SO:0001583	missense	0				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:43106701A>G	AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9618	protein-coding gene	gene with protein product		601890	"""PTK7 protein tyrosine kinase 7"""			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.1343A>G	6.37:g.43106701A>G	ENSP00000230419:p.Asn448Ser					PTK7_ENST00000349241.2_Intron|PTK7_ENST00000345201.2_Missense_Mutation_p.N448S|PTK7_ENST00000481273.1_Missense_Mutation_p.N456S|PTK7_ENST00000352931.2_Missense_Mutation_p.N448S	p.N448S	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		8	1564	+			448			Ig-like C2-type 5.		A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Missense_Mutation	SNP	ENST00000230419.4	37	c.1343A>G	CCDS4884.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.97|17.97	3.517316|3.517316	0.64634|0.64634	.|.	.|.	ENSG00000112655|ENSG00000112655	ENST00000230419;ENST00000325774;ENST00000352931;ENST00000345201;ENST00000481273;ENST00000481946|ENST00000489707	T;T;T;T;T|.	0.47177|.	0.85;0.85;0.85;0.85;0.85|.	5.31|5.31	5.31|5.31	0.75309|0.75309	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.67988|0.67988	0.2952|0.2952	M|M	0.75777|0.75777	2.31|2.31	0.58432|0.58432	D|D	0.999997|0.999997	B;P;B;B;B|.	0.52316|.	0.242;0.952;0.36;0.365;0.277|.	B;P;B;B;B|.	0.50352|.	0.159;0.638;0.102;0.09;0.145|.	T|T	0.70135|0.70135	-0.4955|-0.4955	10|5	0.59425|.	D|.	0.04|.	.|.	15.2593|15.2593	0.73610|0.73610	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	456;124;448;448;448|.	E9PFZ5;F8W9X8;Q13308-2;Q13308-4;Q13308|.	.;.;.;.;PTK7_HUMAN|.	S|A	448;124;448;448;456;227|93	ENSP00000230419:N448S;ENSP00000326029:N448S;ENSP00000325992:N448S;ENSP00000418754:N456S;ENSP00000420165:N227S|.	ENSP00000230418:N448S|.	N|T	+|+	2|1	0|0	PTK7|PTK7	43214679|43214679	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.914000|0.914000	0.54420|0.54420	6.447000|6.447000	0.73465|0.73465	2.014000|2.014000	0.59158|0.59158	0.402000|0.402000	0.26972|0.26972	AAC|ACC		0.557	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2			3	110	0	0	0	1	0	3	110				
ZNF528	84436	broad.mit.edu	37	19	52919410	52919410	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr19:52919410G>T	ENST00000360465.3	+	7	1731	c.1305G>T	c.(1303-1305)aaG>aaT	p.K435N	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	435					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)	p.K435N(1)		breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		CTGATGAGAAGCCTTACAAAT	0.383																																						ENST00000360465.3																			1	Substitution - Missense(1)	p.K435N(1)	prostate(1)	breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39						c.(1303-1305)aaG>aaT		zinc finger protein 528							76.0	78.0	77.0					19																	52919410		2203	4300	6503	SO:0001583	missense	84436				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52919410G>T	AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"""Zinc fingers, C2H2-type"", ""-"""	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.1305G>T	19.37:g.52919410G>T	ENSP00000353652:p.Lys435Asn					ZNF528_ENST00000391788.2_3'UTR	p.K435N	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN		GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)	7	1731	+			435					B3KPN4|Q86T88|Q96JK0	Missense_Mutation	SNP	ENST00000360465.3	37	c.1305G>T	CCDS33091.1	.	.	.	.	.	.	.	.	.	.	G	7.870	0.727840	0.15507	.	.	ENSG00000167555	ENST00000360465	T	0.26067	1.76	1.97	-0.596	0.11657	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38453	0.1041	M	0.75085	2.285	0.23589	N	0.997346	D	0.67145	0.996	P	0.60415	0.874	T	0.24512	-1.0158	9	0.87932	D	0	.	2.356	0.04295	0.3172:0.0:0.2811:0.4017	.	435	Q3MIS6	ZN528_HUMAN	N	435	ENSP00000353652:K435N	ENSP00000353652:K435N	K	+	3	2	ZNF528	57611222	0.129000	0.22400	0.055000	0.19348	0.028000	0.11728	-0.002000	0.12924	-0.419000	0.07439	-1.147000	0.01851	AAG		0.383	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1	NM_032423		37	114	1	0	1.07637e-12	1	1.16459e-12	37	114				
RP11-13J8.1	0	broad.mit.edu	37	2	201967218	201967218	+	lincRNA	DEL	G	G	-	rs371047928|rs368317583		TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr2:201967218delG	ENST00000448256.1	+	0	628																											aaaaaaaaaagaaTTTGTTCT	0.463																																						ENST00000448256.1																			0																																																			0							g.chr2:201967218delG																													2.37:g.201967218delG														0	628	+									RNA	DEL	ENST00000448256.1	37																																																																																						0.463	RP11-13J8.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000347397.1			4	6						4	6	---	---	---	---
IQCJ	654502	broad.mit.edu	37	3	158980372	158980373	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr3:158980372_158980373insG	ENST00000451172.1	+	4	296_297	c.191_192insG	c.(190-195)caggagfs	p.E65fs	IQCJ-SCHIP1_ENST00000467442.1_3'UTR|IQCJ_ENST00000481796.1_3'UTR|IQCJ_ENST00000397832.2_Frame_Shift_Ins_p.E65fs|IQCJ_ENST00000482126.1_Frame_Shift_Ins_p.E38fs|IQCJ-SCHIP1_ENST00000485419.1_Frame_Shift_Ins_p.E65fs|IQCJ-SCHIP1_ENST00000476809.1_Frame_Shift_Ins_p.E38fs	NM_001042705.2	NP_001036170.1	Q1A5X6	IQCJ_HUMAN	IQ motif containing J	65	IQ.									cervix(1)|endometrium(2)|large_intestine(2)|lung(10)	15			LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)			CTGCAGCGGCAGGAGCCCCTGG	0.54																																						ENST00000485419.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						c.(190-192)cgafs																																						SO:0001589	frameshift_variant	0					cytoplasm	identical protein binding|protein binding	g.chr3:158980372_158980373insG	DQ309553, DQ309554	CCDS46946.1, CCDS46947.1, CCDS56290.1	3q25.32	2011-03-24			ENSG00000214216	ENSG00000214216			32406	protein-coding gene	gene with protein product		611622				17045569	Standard	NM_001042705		Approved			Q1A5X6	OTTHUMG00000166440	ENST00000451172.1:c.193dupG	3.37:g.158980374_158980374dupG	ENSP00000402153:p.Glu65fs					IQCJ_ENST00000397832.2_Frame_Shift_Ins_p.R64fs|IQCJ_ENST00000482126.1_Frame_Shift_Ins_p.R37fs|IQCJ_ENST00000481796.1_3'UTR|IQCJ-SCHIP1_ENST00000476809.1_Frame_Shift_Ins_p.R37fs|IQCJ_ENST00000451172.1_Frame_Shift_Ins_p.R64fs|IQCJ-SCHIP1_ENST00000467442.1_3'UTR	p.R64fs	NM_001197113.1	NP_001184042.1	Q9P0W5	SCHI1_HUMAN			4	360_361	+			0			Ser-rich.		B7ZMM2|B9EH97|Q1A5X5	Frame_Shift_Ins	INS	ENST00000451172.1	37	c.191_192insG	CCDS46946.1																																																																																				0.540	IQCJ-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352395.1	NM_001042705.1		7	250						7	250	---	---	---	---
MBL1P	8512	broad.mit.edu	37	10	81680656	81680656	+	RNA	DEL	A	A	-	rs567381624	byFrequency	TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr10:81680656delA	ENST00000480805.1	+	0	723					NR_002724.2				mannose-binding lectin (protein A) 1, pseudogene																		GCTTTTGGGGAAAAAAAAAAG	0.542																																						ENST00000480805.1																			0																																																			0							g.chr10:81680656delA	AF019382		10q22.3	2012-11-02	2009-12-02	2009-12-02	ENSG00000242600	ENSG00000242600		"""Collectins"""	6921	pseudogene	pseudogene			"""mannose-binding lectin (protein A) 1, pseudogene 1"""	MBL1P1		9501312	Standard	NR_002724		Approved	COLEC3P	uc001kbg.1		OTTHUMG00000018595		10.37:g.81680656delA								NR_002724.2						0	723	+									RNA	DEL	ENST00000480805.1	37																																																																																						0.542	MBL1P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000049017.1			3	6						3	6	---	---	---	---
GDPD5	81544	broad.mit.edu	37	11	75152348	75152349	+	Frame_Shift_Ins	INS	-	-	G	rs188755757	byFrequency	TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr11:75152348_75152349insG	ENST00000336898.3	-	14	2169_2170	c.1332_1333insC	c.(1330-1335)tacgcgfs	p.A445fs	GDPD5_ENST00000526177.1_Frame_Shift_Ins_p.A307fs|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000533805.1_Frame_Shift_Ins_p.A200fs|GDPD5_ENST00000376282.3_Frame_Shift_Ins_p.A326fs|GDPD5_ENST00000533784.1_Frame_Shift_Ins_p.A326fs|GDPD5_ENST00000529721.1_Frame_Shift_Ins_p.A445fs	NM_030792.6	NP_110419.5	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	445	GP-PDE.				cerebral cortex neuron differentiation (GO:0021895)|glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)|negative regulation of Notch signaling pathway (GO:0045746)|neuron projection development (GO:0031175)|positive regulation of neuron differentiation (GO:0045666)|regulation of timing of cell differentiation (GO:0048505)|spinal cord motor neuron differentiation (GO:0021522)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						TTCCAGGACGCGTAGTCCCTGT	0.629																																						ENST00000526177.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						c.(916-921)tacgtcfs		glycerophosphodiester phosphodiesterase domain containing 5																																				SO:0001589	frameshift_variant	81544				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity	g.chr11:75152348_75152349insG	AF318377	CCDS8238.1	11q13.4-q13.5	2011-01-25				ENSG00000158555			28804	protein-coding gene	gene with protein product		609632				18667693, 17275818	Standard	NM_030792		Approved	PP1665, GDE2	uc001owp.4	Q8WTR4		ENST00000336898.3:c.1333dupC	11.37:g.75152349_75152349dupG	ENSP00000337972:p.Ala445fs					GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000533784.1_Frame_Shift_Ins_p.V326fs|GDPD5_ENST00000529721.1_Frame_Shift_Ins_p.V445fs|GDPD5_ENST00000336898.3_Frame_Shift_Ins_p.V445fs|GDPD5_ENST00000533805.1_Frame_Shift_Ins_p.V200fs|GDPD5_ENST00000376282.3_Frame_Shift_Ins_p.V326fs	p.V307fs			Q8WTR4	GDPD5_HUMAN			10	2796_2797	-			445			GDPD.		Q49AQ5|Q6UX76|Q7Z4S0|Q8N781|Q8NCB7|Q8TB77	Frame_Shift_Ins	INS	ENST00000336898.3	37	c.918_919insC	CCDS8238.1																																																																																				0.629	GDPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384409.1	NM_030792		20	80						20	80	---	---	---	---
FMNL3	91010	broad.mit.edu	37	12	50041517	50041519	+	In_Frame_Del	DEL	GGG	GGG	-			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr12:50041517_50041519delGGG	ENST00000293590.5	-	23	2978_2980	c.2745_2747delCCC	c.(2743-2748)ttccca>tta	p.915_916FP>L	FMNL3_ENST00000335154.5_In_Frame_Del_p.915_916FP>L|FMNL3_ENST00000550488.1_In_Frame_Del_p.914_915FP>L|FMNL3_ENST00000352151.5_In_Frame_Del_p.864_865FP>L			Q8IVF7	FMNL3_HUMAN	formin-like 3	915	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						GACAAATACTGGGAAGAATACAG	0.512																																						ENST00000335154.5																			0				breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						c.(2743-2748)tta>tt		formin-like 3																																				SO:0001651	inframe_deletion	91010				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr12:50041517_50041519delGGG	AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.2745_2747delCCC	12.37:g.50041517_50041519delGGG	ENSP00000293590:p.Phe915_Pro916delinsLeu					FMNL3_ENST00000352151.5_In_Frame_Del_p.FP864del|FMNL3_ENST00000550488.1_In_Frame_Del_p.FP914del|FMNL3_ENST00000293590.5_In_Frame_Del_p.FP915del	p.FP915del	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN			23	2978_2980	-			915			FH2.		B0JZA7|Q6ZRJ1	In_Frame_Del	DEL	ENST00000293590.5	37	c.2745_2747delCCC																																																																																					0.512	FMNL3-201	KNOWN	basic	protein_coding	protein_coding		NM_175736		17	92						17	92	---	---	---	---
LMTK3	114783	broad.mit.edu	37	19	49002387	49002389	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr19:49002387_49002389delCCT	ENST00000600059.1	-	11	2164_2166	c.1937_1939delAGG	c.(1936-1941)gagggc>ggc	p.E646del	LMTK3_ENST00000270238.3_In_Frame_Del_p.E675del			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	646	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GGGGAGCTGCCCTCCTCCTCCTC	0.739																																						ENST00000600059.1																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16						c.(1936-1941)ggc>g		lemur tyrosine kinase 3				23,2745		1,21,1362						-1.2	1.0			4	63,6327		10,43,3142	no	coding	LMTK3	NM_001080434.1		11,64,4504	A1A1,A1R,RR		0.9859,0.8309,0.9391				86,9072				SO:0001651	inframe_deletion	114783							g.chr19:49002387_49002389delCCT	AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 101"""						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.1937_1939delAGG	19.37:g.49002396_49002398delCCT	ENSP00000472020:p.Glu646del					LMTK3_ENST00000270238.3_In_Frame_Del_p.EG675del	p.EG646del						OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)	11	2164_2166	-		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)						Q4G0U1	In_Frame_Del	DEL	ENST00000600059.1	37	c.1937_1939delAGG																																																																																					0.739	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	NM_052895		2	4						2	4	---	---	---	---
NKX2-4	644524	broad.mit.edu	37	20	21377696	21377697	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr20:21377696_21377697insC	ENST00000351817.4	-	1	969_970	c.341_342insG	c.(340-342)ggcfs	p.G114fs	RP11-227D2.3_ENST00000419666.2_RNA|RP11-227D2.3_ENST00000552439.1_RNA	NM_033176.1	NP_149416.1	Q9H2Z4	NKX24_HUMAN	NK2 homeobox 4	114					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			lung(2)|upper_aerodigestive_tract(1)	3						TGTTGCCCAGGCCGCCGTTGCA	0.752																																						ENST00000351817.4																			0				lung(2)|upper_aerodigestive_tract(1)	3						c.(340-342)gctfs		NK2 homeobox 4																																				SO:0001589	frameshift_variant	644524				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:21377696_21377697insC		CCDS42855.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125816	ENSG00000125816		"""Homeoboxes / ANTP class : NKL subclass"""	7837	protein-coding gene	gene with protein product		607808	"""NK-2 (Drosophila) homolog D"", ""NK2 transcription factor related, locus 4 (Drosophila)"""	NKX2D		1346742, 10818213	Standard	NM_033176		Approved	NKX2.4	uc010gcz.3	Q9H2Z4	OTTHUMG00000032022	ENST00000351817.4:c.342dupG	20.37:g.21377698_21377698dupC	ENSP00000345147:p.Gly114fs						p.A114fs	NM_033176.1	NP_149416.1	Q9H2Z4	NKX24_HUMAN			1	969_970	-			114					Q5VZV8	Frame_Shift_Ins	INS	ENST00000351817.4	37	c.341_342insG	CCDS42855.1																																																																																				0.752	NKX2-4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078270.2			2	4						2	4	---	---	---	---
