#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
GABRA6	2559	broad.mit.edu	37	5	161116048	161116048	+	Missense_Mutation	SNP	A	A	T			TCGA-QT-A7U0-01A-11D-A35D-08	TCGA-QT-A7U0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7599c42d-e42b-4a22-bf08-ed78437a1652	f19ac3ac-2b5b-474c-8259-dd93c42aef05	g.chr5:161116048A>T	ENST00000274545.5	+	4	752	c.319A>T	c.(319-321)Atg>Ttg	p.M107L	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000523217.1_Missense_Mutation_p.M97L			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	107					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	GAATAATTTGATGGTCAGTAA	0.413										TCGA Ovarian(5;0.080)																												ENST00000523217.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57						c.(289-291)Atg>Ttg		gamma-aminobutyric acid (GABA) A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						74.0	75.0	75.0					5																	161116048		2203	4299	6502	SO:0001583	missense	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161116048A>T		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.319A>T	5.37:g.161116048A>T	ENSP00000274545:p.Met107Leu	TCGA Ovarian(5;0.080)				GABRA6_ENST00000274545.5_Missense_Mutation_p.M107L|RP11-348M17.2_ENST00000521984.1_RNA	p.M97L	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		4	531	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	107					A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	c.289A>T	CCDS4356.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.84|17.84	3.486899|3.486899	0.63962|0.63962	.|.	.|.	ENSG00000145863|ENSG00000145863	ENST00000274545;ENST00000523217;ENST00000517823;ENST00000523691|ENST00000520000	T;T;T;T|.	0.78481|.	-1.18;-1.18;-1.18;-1.02|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Neurotransmitter-gated ion-channel ligand-binding (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.51517|.	0.1679|.	N|N	0.17764|0.17764	0.52|0.52	0.58432|0.58432	D|D	0.999999|0.999999	B|.	0.31077|.	0.307|.	B|.	0.43018|.	0.405|.	T|.	0.48068|.	-0.9067|.	10|.	0.34782|.	T|.	0.22|.	.|.	16.1778|16.1778	0.81874|0.81874	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	107|.	Q16445|.	GBRA6_HUMAN|.	L|C	107;97;54;2|46	ENSP00000274545:M107L;ENSP00000430527:M97L;ENSP00000430212:M54L;ENSP00000427989:M2L|.	ENSP00000274545:M107L|.	M|X	+|+	1|3	0|0	GABRA6|GABRA6	161048626|161048626	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	9.176000|9.176000	0.94839|0.94839	2.279000|2.279000	0.76181|0.76181	0.533000|0.533000	0.62120|0.62120	ATG|TGA		0.413	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			4	102	0	0	0	1	0	4	102				
EPAS1	2034	broad.mit.edu	37	2	46607403	46607403	+	Missense_Mutation	SNP	C	C	T			TCGA-QT-A7U0-01A-11D-A35D-08	TCGA-QT-A7U0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7599c42d-e42b-4a22-bf08-ed78437a1652	f19ac3ac-2b5b-474c-8259-dd93c42aef05	g.chr2:46607403C>T	ENST00000263734.3	+	12	2102	c.1592C>T	c.(1591-1593)cCc>cTc	p.P531L		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	531	NTAD.				angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			ACACTGGCACCCTATATCCCC	0.592																																						ENST00000263734.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1591-1593)cCc>cTc		endothelial PAS domain protein 1							85.0	93.0	91.0					2																	46607403		2203	4300	6503	SO:0001583	missense	2034				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	g.chr2:46607403C>T	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.1592C>T	2.37:g.46607403C>T	ENSP00000263734:p.Pro531Leu						p.P531L	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		12	2102	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	531			NTAD.		Q86VA2|Q99630	Missense_Mutation	SNP	ENST00000263734.3	37	c.1592C>T	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	C	31	5.063493	0.93898	.	.	ENSG00000116016	ENST00000263734	D	0.99511	-6.05	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.99444	0.9803	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98897	1.0775	10	0.87932	D	0	.	18.4411	0.90666	0.0:1.0:0.0:0.0	.	531	Q99814	EPAS1_HUMAN	L	531	ENSP00000263734:P531L	ENSP00000263734:P531L	P	+	2	0	EPAS1	46460907	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.814000	0.86154	2.361000	0.80049	0.491000	0.48974	CCC		0.592	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430		42	76	0	0	0	1	0	42	76				
PPP2R2C	5522	broad.mit.edu	37	4	6380190	6380190	+	Missense_Mutation	SNP	T	T	C			TCGA-QT-A7U0-01A-11D-A35D-08	TCGA-QT-A7U0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7599c42d-e42b-4a22-bf08-ed78437a1652	f19ac3ac-2b5b-474c-8259-dd93c42aef05	g.chr4:6380190T>C	ENST00000382599.4	-	3	494	c.278A>G	c.(277-279)aAc>aGc	p.N93S	PPP2R2C_ENST00000335585.5_Missense_Mutation_p.N93S|PPP2R2C_ENST00000314348.8_Intron|PPP2R2C_ENST00000507294.1_Missense_Mutation_p.N86S|PPP2R2C_ENST00000506140.1_Missense_Mutation_p.N86S|PPP2R2C_ENST00000515571.1_Missense_Mutation_p.N76S			Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	93					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						CTTGATCTTGTTGATCTTCTC	0.602																																						ENST00000335585.5																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						c.(277-279)aAc>aGc		protein phosphatase 2, regulatory subunit B, gamma							147.0	137.0	140.0					4																	6380190		2203	4300	6503	SO:0001583	missense	5522				signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity	g.chr4:6380190T>C	AF086924	CCDS3388.1, CCDS56304.1, CCDS56305.1, CCDS3387.1	4p16.1	2013-01-10	2010-04-14		ENSG00000074211	ENSG00000074211	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9306	protein-coding gene	gene with protein product	"""PP2A subunit B isoform gamma"""	605997	"""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), gamma isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, gamma isoform"""			10574460, 10945473	Standard	NM_020416		Approved	PR52, IMYPNO, MGC33570, PR55G	uc003gja.3	Q9Y2T4	OTTHUMG00000090445	ENST00000382599.4:c.278A>G	4.37:g.6380190T>C	ENSP00000372042:p.Asn93Ser					PPP2R2C_ENST00000314348.8_Intron|PPP2R2C_ENST00000515571.1_Missense_Mutation_p.N76S|PPP2R2C_ENST00000506140.1_Missense_Mutation_p.N86S|PPP2R2C_ENST00000382599.4_Missense_Mutation_p.N93S|PPP2R2C_ENST00000507294.1_Missense_Mutation_p.N86S	p.N93S	NM_181876.2	NP_870991.1	Q9Y2T4	2ABG_HUMAN			3	301	-			93					A8MSY7|B7Z3Y1|Q7Z4V7|Q8NEC4|Q9H3G7	Missense_Mutation	SNP	ENST00000382599.4	37	c.278A>G		.	.	.	.	.	.	.	.	.	.	T	25.5	4.649048	0.87958	.	.	ENSG00000074211	ENST00000335585;ENST00000506140;ENST00000515571;ENST00000382599;ENST00000507294	T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62	4.47	4.47	0.54385	Protein phosphatase 2A, regulatory subunit PR55, conserved site (1);WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.50548	0.1622	M	0.69185	2.1	0.80722	D	1	D;D;D;D;D	0.67145	0.996;0.975;0.996;0.996;0.991	P;P;P;P;D	0.64410	0.858;0.847;0.902;0.858;0.925	T	0.55335	-0.8157	10	0.87932	D	0	-69.3607	13.3713	0.60715	0.0:0.0:0.0:1.0	.	86;189;93;76;93	B7Z3Y1;Q59GC6;Q9Y2T4;Q9Y2T4-3;Q9Y2T4-2	.;.;2ABG_HUMAN;.;.	S	93;86;76;93;86	ENSP00000335083:N93S;ENSP00000423649:N86S;ENSP00000422374:N76S;ENSP00000372042:N93S;ENSP00000425247:N86S	ENSP00000335083:N93S	N	-	2	0	PPP2R2C	6431091	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.244000	0.78228	2.017000	0.59298	0.260000	0.18958	AAC		0.602	PPP2R2C-001	NOVEL	overlapping_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206889.2	NM_181876		4	59	0	0	0	1	0	4	59				
ANKRD36	375248	broad.mit.edu	37	2	97869931	97869931	+	Missense_Mutation	SNP	A	A	T	rs76309140		TCGA-QT-A7U0-01A-11D-A35D-08	TCGA-QT-A7U0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7599c42d-e42b-4a22-bf08-ed78437a1652	f19ac3ac-2b5b-474c-8259-dd93c42aef05	g.chr2:97869931A>T	ENST00000461153.2	+	50	3236	c.2992A>T	c.(2992-2994)Aca>Tca	p.T998S	ANKRD36_ENST00000420699.2_Missense_Mutation_p.T998S			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	998								p.T998S(13)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CATTCAGGCTACAAGTGATGA	0.289																																						ENST00000420699.2																			13	Substitution - Missense(13)	p.T998S(13)	kidney(6)|endometrium(4)|prostate(3)	endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(2992-2994)Aca>Tca		ankyrin repeat domain 36							37.0	44.0	42.0					2																	97869931		692	1587	2279	SO:0001583	missense	375248							g.chr2:97869931A>T	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.2992A>T	2.37:g.97869931A>T	ENSP00000419530:p.Thr998Ser					ANKRD36_ENST00000461153.2_Missense_Mutation_p.T998S	p.T998S	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN			50	3236	+			998					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	ENST00000461153.2	37	c.2992A>T	CCDS54379.1	.	.	.	.	.	.	.	.	.	.	.	3.819	-0.038219	0.07497	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000461694	T;T	0.32753	1.44;1.44	0.63	-0.824	0.10812	.	.	.	.	.	T	0.14056	0.0340	L	0.27053	0.805	0.09310	N	1	P	0.40476	0.718	B	0.28849	0.095	T	0.12837	-1.0532	8	0.38643	T	0.18	.	.	.	.	.	998	A6QL64	AN36A_HUMAN	S	998;998;360	ENSP00000419530:T998S;ENSP00000391950:T998S	ENSP00000391950:T998S	T	+	1	0	ANKRD36	97233658	0.019000	0.18553	0.011000	0.14972	0.022000	0.10575	-0.850000	0.04317	-0.324000	0.08589	0.147000	0.16070	ACA		0.289	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			4	31	0	0	0	1	0	4	31				
PRB3	5544	broad.mit.edu	37	12	11420458	11420458	+	Missense_Mutation	SNP	C	C	T	rs28435564	byFrequency	TCGA-QT-A7U0-01A-11D-A35D-08	TCGA-QT-A7U0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7599c42d-e42b-4a22-bf08-ed78437a1652	f19ac3ac-2b5b-474c-8259-dd93c42aef05	g.chr12:11420458C>T	ENST00000279573.7	-	3	860	c.725G>A	c.(724-726)cGt>cAt	p.R242H	PRB3_ENST00000538488.1_Intron|PRB3_ENST00000381842.3_Intron|PRB3_ENST00000440870.3_Intron			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	179	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.				defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			CTTTCCTGGACGAGGTGGGGG	0.612													c|||	1688	0.337061	0.1861	0.4251	5008	,	,		4544	0.3571		0.4453	False		,,,				2504	0.3466					ENST00000381842.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25								proline-rich protein BstNI subfamily 3							9.0	4.0	6.0					12																	11420458		1057	1581	2638	SO:0001583	missense	5544					extracellular region	Gram-negative bacterial cell surface binding	g.chr12:11420458C>T			12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.725G>A	12.37:g.11420458C>T	ENSP00000279573:p.Arg242His					PRB3_ENST00000538488.1_RNA|PRB3_ENST00000440870.3_RNA|PRB3_ENST00000279573.6_RNA		NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.201)		0	642	-								Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	RNA	SNP	ENST00000279573.7	37																																																																																						0.612	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000402119.5	NM_006249		5	10	0	0	0	1	0	5	10				
PKHD1	5314	broad.mit.edu	37	6	51771115	51771115	+	Missense_Mutation	SNP	C	C	A			TCGA-QT-A7U0-01A-11D-A35D-08	TCGA-QT-A7U0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7599c42d-e42b-4a22-bf08-ed78437a1652	f19ac3ac-2b5b-474c-8259-dd93c42aef05	g.chr6:51771115C>A	ENST00000371117.3	-	41	6981	c.6706G>T	c.(6706-6708)Gtg>Ttg	p.V2236L	PKHD1_ENST00000340994.4_Missense_Mutation_p.V2236L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2236					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)			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)					GAGTTCCTCACTGTGCAGCCC	0.438																																						ENST00000371117.3																			0				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.(6706-6708)Gtg>Ttg		polycystic kidney and hepatic disease 1 (autosomal recessive)							69.0	69.0	69.0					6																	51771115		2203	4300	6503	SO:0001583	missense	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.chr6:51771115C>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.6706G>T	6.37:g.51771115C>A	ENSP00000360158:p.Val2236Leu					PKHD1_ENST00000340994.4_Missense_Mutation_p.V2236L	p.V2236L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			41	6981	-	Lung NSC(77;0.0605)		2236					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.6706G>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.815115	0.32053	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.92397	-3.03;-3.03	5.25	1.4	0.22301	Pectin lyase fold/virulence factor (1);Pectin lyase fold (1);	0.197660	0.35207	N	0.003363	D	0.85801	0.5781	M	0.77103	2.36	0.09310	N	1	B;B	0.32071	0.22;0.355	B;B	0.37989	0.262;0.057	T	0.79140	-0.1926	10	0.42905	T	0.14	.	8.7278	0.34480	0.0:0.6892:0.0:0.3108	.	2236;2236	P08F94-2;P08F94	.;PKHD1_HUMAN	L	2236	ENSP00000360158:V2236L;ENSP00000341097:V2236L	ENSP00000341097:V2236L	V	-	1	0	PKHD1	51879074	0.008000	0.16893	0.004000	0.12327	0.118000	0.20060	0.111000	0.15458	0.215000	0.20761	-0.136000	0.14681	GTG		0.438	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		3	59	1	0	0.115264	1	0.115264	3	59				
NLRP8	126205	broad.mit.edu	37	19	56466123	56466123	+	Silent	SNP	C	C	T	rs377108884		TCGA-QT-A7U0-01A-11D-A35D-08	TCGA-QT-A7U0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7599c42d-e42b-4a22-bf08-ed78437a1652	f19ac3ac-2b5b-474c-8259-dd93c42aef05	g.chr19:56466123C>T	ENST00000291971.3	+	3	770	c.699C>T	c.(697-699)taC>taT	p.Y233Y	NLRP8_ENST00000590542.1_Silent_p.Y233Y	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	233	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.Y233Y(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		ACAAGTTCTACGCCCACAAGC	0.527																																						ENST00000291971.3																			1	Substitution - coding silent(1)	p.Y233Y(1)	ovary(1)	breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35						c.(697-699)taC>taT		NLR family, pyrin domain containing 8		C		0,4406		0,0,2203	104.0	88.0	94.0		699	0.9	0.2	19		94	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NLRP8	NM_176811.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		233/1049	56466123	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	126205					cytoplasm	ATP binding	g.chr19:56466123C>T	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.699C>T	19.37:g.56466123C>T						NLRP8_ENST00000590542.1_Silent_p.Y233Y	p.Y233Y	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	3	770	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	233			NACHT.		Q7RTR4	Silent	SNP	ENST00000291971.3	37	c.699C>T	CCDS12937.1																																																																																				0.527	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		13	65	0	0	0	1	0	13	65				
KCNJ12	3768	broad.mit.edu	37	17	21318660	21318660	+	Silent	SNP	C	C	T	rs148939916	byFrequency	TCGA-QT-A7U0-01A-11D-A35D-08	TCGA-QT-A7U0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7599c42d-e42b-4a22-bf08-ed78437a1652	f19ac3ac-2b5b-474c-8259-dd93c42aef05	g.chr17:21318660C>T	ENST00000583088.1	+	3	901	c.6C>T	c.(4-6)acC>acT	p.T2T	KCNJ12_ENST00000331718.5_Silent_p.T2T	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	2					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	CCGGGATGACCGCGGCCAGCC	0.697										Prostate(3;0.18)			.|||	3	0.000599042	0.0008	0.0	5008	,	,		29919	0.0		0.0	False		,,,				2504	0.002					ENST00000583088.1																			0				NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70						c.(4-6)acC>acT		potassium inwardly-rectifying channel, subfamily J, member 12		C		0,4402		0,0,2201	30.0	31.0	30.0		6	-10.7	0.0	17	dbSNP_134	30	17,8581		0,17,4282	no	coding-synonymous	KCNJ12	NM_021012.4		0,17,6483	TT,TC,CC		0.1977,0.0,0.1308		2/434	21318660	17,12983	2201	4299	6500	SO:0001819	synonymous_variant	3768							g.chr17:21318660C>T	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.6C>T	17.37:g.21318660C>T		Prostate(3;0.18)				KCNJ12_ENST00000331718.5_Silent_p.T2T	p.T2T	NM_021012.4	NP_066292.2				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	901	+								O43401|Q15756|Q8NG63	Silent	SNP	ENST00000583088.1	37	c.6C>T	CCDS11219.1																																																																																				0.697	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		4	26	0	0	0	1	0	4	26				
WDR62	284403	broad.mit.edu	37	19	36579971	36579971	+	Silent	SNP	G	G	T			TCGA-QT-A7U0-01A-11D-A35D-08	TCGA-QT-A7U0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7599c42d-e42b-4a22-bf08-ed78437a1652	f19ac3ac-2b5b-474c-8259-dd93c42aef05	g.chr19:36579971G>T	ENST00000270301.7	+	14	1800	c.1800G>T	c.(1798-1800)ggG>ggT	p.G600G	WDR62_ENST00000401500.2_Silent_p.G600G			O43379	WDR62_HUMAN	WD repeat domain 62	600					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCAGCTGTGGGGCTGACAAGA	0.627																																						ENST00000401500.2																			0				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43						c.(1798-1800)ggG>ggT		WD repeat domain 62							81.0	62.0	69.0					19																	36579971		2203	4300	6503	SO:0001819	synonymous_variant	284403				cerebral cortex development	nucleus		g.chr19:36579971G>T	BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"""WD repeat domain containing"""	24502	protein-coding gene	gene with protein product		613583	"""chromosome 19 open reading frame 14"", ""microcephaly, primary autosomal recessive 2"""	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.1800G>T	19.37:g.36579971G>T						WDR62_ENST00000270301.7_Silent_p.G600G	p.G600G	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		14	1835	+	Esophageal squamous(110;0.162)		600					Q63HP9|Q659D7|Q8NBF7|Q96AD9	Silent	SNP	ENST00000270301.7	37	c.1800G>T	CCDS33001.1																																																																																				0.627	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		6	10	1	0	0.00116845	1	0.00121925	6	10				
PAPSS1	9061	broad.mit.edu	37	4	108535505	108535505	+	Missense_Mutation	SNP	C	C	T			TCGA-QT-A7U0-01A-11D-A35D-08	TCGA-QT-A7U0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7599c42d-e42b-4a22-bf08-ed78437a1652	f19ac3ac-2b5b-474c-8259-dd93c42aef05	g.chr4:108535505C>T	ENST00000265174.4	-	12	2047	c.1775G>A	c.(1774-1776)cGc>cAc	p.R592H		NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	592					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		AGCAAGTTTGCGCATTCGTGT	0.383																																						ENST00000265174.4																			0				NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16						c.(1774-1776)cGc>cAc		3'-phosphoadenosine 5'-phosphosulfate synthase 1							111.0	103.0	105.0					4																	108535505		2203	4300	6503	SO:0001583	missense	9061				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity	g.chr4:108535505C>T	Y10387	CCDS3676.1	4q24	2012-07-13			ENSG00000138801	ENSG00000138801	2.7.7.4, 2.7.1.25		8603	protein-coding gene	gene with protein product		603262				9576487, 9771708	Standard	NM_005443		Approved	ATPSK1, PAPSS	uc003hyk.3	O43252	OTTHUMG00000131210	ENST00000265174.4:c.1775G>A	4.37:g.108535505C>T	ENSP00000265174:p.Arg592His						p.R592H	NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)	12	2047	-		Hepatocellular(203;0.217)	592					O43841|O75332|Q96FB1|Q96TF4|Q9P1P9|Q9UE98	Missense_Mutation	SNP	ENST00000265174.4	37	c.1775G>A	CCDS3676.1	.	.	.	.	.	.	.	.	.	.	C	35	5.424251	0.96111	.	.	ENSG00000138801	ENST00000265174	T	0.44881	0.91	6.16	6.16	0.99307	Sulphate adenylyltransferase (2);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.046932	0.85682	D	0.000000	T	0.81341	0.4802	H	0.99273	4.495	0.80722	D	1	D	0.71674	0.998	D	0.72075	0.976	D	0.88123	0.2833	10	0.87932	D	0	-10.0074	20.8598	0.99761	0.0:1.0:0.0:0.0	.	592	O43252	PAPS1_HUMAN	H	592	ENSP00000265174:R592H	ENSP00000265174:R592H	R	-	2	0	PAPSS1	108754954	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.371000	0.79600	2.937000	0.99478	0.650000	0.86243	CGC		0.383	PAPSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253946.2			3	71	0	0	0	1	0	3	71				
CD200R1L	344807	broad.mit.edu	37	3	112546338	112546338	+	Silent	SNP	A	A	G			TCGA-QT-A7U0-01A-11D-A35D-08	TCGA-QT-A7U0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7599c42d-e42b-4a22-bf08-ed78437a1652	f19ac3ac-2b5b-474c-8259-dd93c42aef05	g.chr3:112546338A>G	ENST00000398214.1	-	3	531	c.306T>C	c.(304-306)tcT>tcC	p.S102S	CD200R1L_ENST00000448932.1_Silent_p.S81S|CD200R1L_ENST00000488794.1_Silent_p.S81S	NM_001008784.2	NP_001008784.2	Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	102	Ig-like V-type.					integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						GATCAGGTCTAGAGACCCAGG	0.468																																						ENST00000488794.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						c.(241-243)tcT>tcC		CD200 receptor 1-like							170.0	163.0	165.0					3																	112546338		2203	4300	6503	SO:0001819	synonymous_variant	344807					integral to membrane	receptor activity	g.chr3:112546338A>G	AY284976	CCDS43131.1, CCDS56267.1	3q13.2	2014-05-15	2008-10-08		ENSG00000206531	ENSG00000206531		"""Immunoglobulin superfamily / C2-set domain containing"""	24665	protein-coding gene	gene with protein product	"""CD200 receptor 2"""						Standard	NM_001008784		Approved	CD200RLa, CD200R2	uc003dzi.1	Q6Q8B3	OTTHUMG00000159283	ENST00000398214.1:c.306T>C	3.37:g.112546338A>G						CD200R1L_ENST00000398214.1_Silent_p.S102S|CD200R1L_ENST00000448932.1_Silent_p.S81S	p.S81S			Q6Q8B3	MO2R2_HUMAN			5	832	-			102			Ig-like V-type.		Q6WHB7	Silent	SNP	ENST00000398214.1	37	c.243T>C	CCDS43131.1																																																																																				0.468	CD200R1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354365.1	NM_001008784		4	126	0	0	0	1	0	4	126				
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs376114863		TCGA-QT-A7U0-01A-11D-A35D-08	TCGA-QT-A7U0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7599c42d-e42b-4a22-bf08-ed78437a1652	f19ac3ac-2b5b-474c-8259-dd93c42aef05	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478																																						ENST00000418868.1																			0																																																			220729							g.chr3:197348674A>G																													3.37:g.197348674A>G								NR_003266.2						0	585	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.478	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			6	93	0	0	0	1	0	6	93				
PARP1	142	broad.mit.edu	37	1	226570832	226570832	+	Missense_Mutation	SNP	C	C	T			TCGA-QT-A7U0-01A-11D-A35D-08	TCGA-QT-A7U0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7599c42d-e42b-4a22-bf08-ed78437a1652	f19ac3ac-2b5b-474c-8259-dd93c42aef05	g.chr1:226570832C>T	ENST00000366794.5	-	8	1207	c.1064G>A	c.(1063-1065)cGt>cAt	p.R355H		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	355					base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GGGGAATATACGGTCCTGTTT	0.498								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														ENST00000366794.5																			0				breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44						c.(1063-1065)cGt>cAt	Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA	poly (ADP-ribose) polymerase 1							119.0	147.0	138.0					1																	226570832		2203	4300	6503	SO:0001583	missense	142				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding	g.chr1:226570832C>T	BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	270	protein-coding gene	gene with protein product		173870	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)"", ""poly (ADP-ribose) polymerase family, member 1"""	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.1064G>A	1.37:g.226570832C>T	ENSP00000355759:p.Arg355His						p.R355H	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN		GBM - Glioblastoma multiforme(131;0.0531)	8	1207	-	Breast(184;0.133)		355					B1ANJ4|Q8IUZ9	Missense_Mutation	SNP	ENST00000366794.5	37	c.1064G>A	CCDS1554.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.340517	0.81911	.	.	ENSG00000143799	ENST00000366794	T	0.12984	2.63	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.21387	0.0515	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.35822	-0.9773	10	0.72032	D	0.01	.	18.5003	0.90878	0.0:1.0:0.0:0.0	.	355	P09874	PARP1_HUMAN	H	355	ENSP00000355759:R355H	ENSP00000355759:R355H	R	-	2	0	PARP1	224637455	1.000000	0.71417	0.941000	0.38009	0.382000	0.30200	6.773000	0.75006	2.446000	0.82766	0.561000	0.74099	CGT		0.498	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	NM_001618		4	266	0	0	0	1	0	4	266				
CD200R1L	344807	broad.mit.edu	37	3	112546360	112546360	+	Missense_Mutation	SNP	A	A	T	rs202235033	byFrequency	TCGA-QT-A7U0-01A-11D-A35D-08	TCGA-QT-A7U0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7599c42d-e42b-4a22-bf08-ed78437a1652	f19ac3ac-2b5b-474c-8259-dd93c42aef05	g.chr3:112546360A>T	ENST00000398214.1	-	3	509	c.284T>A	c.(283-285)gTt>gAt	p.V95D	CD200R1L_ENST00000448932.1_Missense_Mutation_p.V74D|CD200R1L_ENST00000488794.1_Missense_Mutation_p.V74D	NM_001008784.2	NP_001008784.2	Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	95	Ig-like V-type.					integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						TATTCTCTCAACAGTACAGTT	0.448													a|||	3	0.000599042	0.0	0.0043	5008	,	,		19891	0.0		0.0	False		,,,				2504	0.0					ENST00000488794.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						c.(220-222)gTt>gAt		CD200 receptor 1-like							180.0	171.0	174.0					3																	112546360		2203	4300	6503	SO:0001583	missense	344807					integral to membrane	receptor activity	g.chr3:112546360A>T	AY284976	CCDS43131.1, CCDS56267.1	3q13.2	2014-05-15	2008-10-08		ENSG00000206531	ENSG00000206531		"""Immunoglobulin superfamily / C2-set domain containing"""	24665	protein-coding gene	gene with protein product	"""CD200 receptor 2"""						Standard	NM_001008784		Approved	CD200RLa, CD200R2	uc003dzi.1	Q6Q8B3	OTTHUMG00000159283	ENST00000398214.1:c.284T>A	3.37:g.112546360A>T	ENSP00000381272:p.Val95Asp					CD200R1L_ENST00000398214.1_Missense_Mutation_p.V95D|CD200R1L_ENST00000448932.1_Missense_Mutation_p.V74D	p.V74D			Q6Q8B3	MO2R2_HUMAN			5	810	-			95			Ig-like V-type.		Q6WHB7	Missense_Mutation	SNP	ENST00000398214.1	37	c.221T>A	CCDS43131.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	a	0.016	-1.522279	0.00967	.	.	ENSG00000206531	ENST00000398214;ENST00000488794;ENST00000448932	T;T;T	0.28454	1.61;1.61;1.61	3.99	-2.86	0.05717	Immunoglobulin-like fold (1);	0.616580	0.16519	N	0.210906	T	0.03695	0.0105	N	0.00197	-1.87	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33828	-0.9853	10	0.02654	T	1	.	0.0785	0.00029	0.3222:0.1961:0.1641:0.3177	.	95	Q6Q8B3	MO2R2_HUMAN	D	95;74;74	ENSP00000381272:V95D;ENSP00000418413:V74D;ENSP00000415132:V74D	ENSP00000381272:V95D	V	-	2	0	CD200R1L	114029050	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.185000	0.09684	-0.391000	0.07763	-1.056000	0.02311	GTT		0.448	CD200R1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354365.1	NM_001008784		4	121	0	0	0	1	0	4	121				
AGXT2	64902	broad.mit.edu	37	5	35035400	35035400	+	Missense_Mutation	SNP	C	C	T			TCGA-QT-A7U0-01A-11D-A35D-08	TCGA-QT-A7U0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7599c42d-e42b-4a22-bf08-ed78437a1652	f19ac3ac-2b5b-474c-8259-dd93c42aef05	g.chr5:35035400C>T	ENST00000231420.6	-	5	708	c.508G>A	c.(508-510)Ggc>Agc	p.G170S	AC010368.1_ENST00000390793.2_RNA	NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	170					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process, by transamination (GO:0019481)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity (GO:0047305)|alanine-glyoxylate transaminase activity (GO:0008453)|beta-alanine-pyruvate transaminase activity (GO:0016223)|pyridoxal phosphate binding (GO:0030170)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyruvic acid(DB00119)	GCTTCTGAGCCACTGTTCACC	0.433																																						ENST00000231420.6																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41						c.(508-510)Ggc>Agc		alanine--glyoxylate aminotransferase 2	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)						118.0	127.0	124.0					5																	35035400		2203	4300	6503	SO:0001583	missense	64902				glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	g.chr5:35035400C>T	AJ292204	CCDS3908.1	5p13	2010-05-07	2010-05-07		ENSG00000113492	ENSG00000113492	2.6.1.44		14412	protein-coding gene	gene with protein product	"""beta-alanine-pyruvate aminotransferase"", ""beta-ALAAT II"""	612471	"""alanine-glyoxylate aminotransferase 2"""			15240345	Standard	NM_031900		Approved	AGT2	uc003jjf.3	Q9BYV1	OTTHUMG00000090788	ENST00000231420.6:c.508G>A	5.37:g.35035400C>T	ENSP00000231420:p.Gly170Ser						p.G170S	NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	5	708	-	all_lung(31;4.52e-05)		170					B7ZM47|E9PDL7|Q53FB4|Q53FY7|Q53G03|Q5W7Q1	Missense_Mutation	SNP	ENST00000231420.6	37	c.508G>A	CCDS3908.1	.	.	.	.	.	.	.	.	.	.	C	32	5.189677	0.94923	.	.	ENSG00000113492	ENST00000231420	D	0.98633	-5.04	6.06	6.06	0.98353	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.99638	0.9867	H	0.99498	4.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.997	D	0.97461	1.0034	10	0.87932	D	0	-6.3889	20.6282	0.99521	0.0:1.0:0.0:0.0	.	78;170;170	B7Z3M3;E9PDL7;Q9BYV1	.;.;AGT2_HUMAN	S	170	ENSP00000231420:G170S	ENSP00000231420:G170S	G	-	1	0	AGXT2	35071157	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	7.250000	0.78287	2.871000	0.98454	0.655000	0.94253	GGC		0.433	AGXT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207574.2	NM_031900		29	56	0	0	0	1	0	29	56				
WDR11	55717	broad.mit.edu	37	10	122662677	122662677	+	Missense_Mutation	SNP	C	C	G			TCGA-QT-A7U0-01A-11D-A35D-08	TCGA-QT-A7U0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7599c42d-e42b-4a22-bf08-ed78437a1652	f19ac3ac-2b5b-474c-8259-dd93c42aef05	g.chr10:122662677C>G	ENST00000263461.6	+	23	3110	c.2864C>G	c.(2863-2865)cCt>cGt	p.P955R	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0	Mediates interaction with IRS1. {ECO:0000250}.				cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						GAAGCTGCTCCTCGAGACAAA	0.498																																						ENST00000263461.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						c.(2863-2865)cCt>cGt		WD repeat domain 11							99.0	83.0	89.0					10																	122662677		2203	4300	6503	SO:0001583	missense	55717					integral to membrane		g.chr10:122662677C>G	AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"""WD repeat domain containing"""	13831	protein-coding gene	gene with protein product		606417	"""bromodomain and WD repeat domain containing 2"""	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.2864C>G	10.37:g.122662677C>G	ENSP00000263461:p.Pro955Arg					WDR11_ENST00000604509.1_3'UTR	p.P955R	NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN			23	3110	+			955					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000263461.6	37	c.2864C>G	CCDS7619.1	.	.	.	.	.	.	.	.	.	.	C	1.055	-0.674740	0.03378	.	.	ENSG00000120008	ENST00000263461	D	0.90504	-2.68	5.65	4.74	0.60224	.	0.245966	0.42821	D	0.000643	D	0.84247	0.5430	L	0.34521	1.04	0.20074	N	0.999933	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.0	T	0.73183	-0.4063	10	0.38643	T	0.18	-3.2571	10.2308	0.43253	0.1372:0.7872:0.0:0.0756	.	955;955;246;484	Q9BZH6;B2RCJ6;Q9NWV7;Q659C9	WDR11_HUMAN;.;.;.	R	955	ENSP00000263461:P955R	ENSP00000263461:P955R	P	+	2	0	WDR11	122652667	0.001000	0.12720	0.040000	0.18447	0.032000	0.12392	1.407000	0.34657	1.512000	0.48834	0.655000	0.94253	CCT		0.498	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2			13	35	0	0	0	1	0	13	35				
MTMR10	54893	broad.mit.edu	37	15	31251152	31251152	+	Silent	SNP	G	G	C			TCGA-QT-A7U0-01A-11D-A35D-08	TCGA-QT-A7U0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7599c42d-e42b-4a22-bf08-ed78437a1652	f19ac3ac-2b5b-474c-8259-dd93c42aef05	g.chr15:31251152G>C	ENST00000435680.1	-	9	946	c.849C>G	c.(847-849)ctC>ctG	p.L283L	MTMR10_ENST00000425768.1_3'UTR|RNU6-466P_ENST00000391224.1_RNA|MTMR10_ENST00000563714.1_Silent_p.L201L|MTMR10_ENST00000314404.8_Silent_p.L35L	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	283	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		TCCAGCACCAGAGCTAGGGGA	0.478																																						ENST00000435680.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(847-849)ctC>ctG		myotubularin related protein 10							119.0	115.0	117.0					15																	31251152		1985	4154	6139	SO:0001819	synonymous_variant	54893						phosphatase activity	g.chr15:31251152G>C	AK000320	CCDS45204.1	15q13.3	2011-06-09				ENSG00000166912		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	25999	protein-coding gene	gene with protein product						12495846	Standard	NM_017762		Approved	FLJ20313	uc001zfh.1	Q9NXD2		ENST00000435680.1:c.849C>G	15.37:g.31251152G>C						MTMR10_ENST00000314404.8_Silent_p.L35L|MTMR10_ENST00000563714.1_Silent_p.L201L|MTMR10_ENST00000425768.1_3'UTR	p.L283L	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)	9	946	-		all_lung(180;2.81e-11)	283			Myotubularin phosphatase.		Q6P4Q6	Silent	SNP	ENST00000435680.1	37	c.849C>G	CCDS45204.1																																																																																				0.478	MTMR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430747.1	NM_017762		29	57	0	0	0	1	0	29	57				
ZXDC	79364	broad.mit.edu	37	3	126178522	126178522	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QT-A7U0-01A-11D-A35D-08	TCGA-QT-A7U0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7599c42d-e42b-4a22-bf08-ed78437a1652	f19ac3ac-2b5b-474c-8259-dd93c42aef05	g.chr3:126178522delT	ENST00000389709.3	-	7	2239	c.2186delA	c.(2185-2187)aagfs	p.K729fs		NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	729					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|LRR domain binding (GO:0030275)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		TCCTCTCTGCTTTTTTTCCTT	0.522																																						ENST00000389709.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17						c.(2185-2187)agfs		ZXD family zinc finger C							288.0	315.0	306.0					3																	126178522		2005	4167	6172	SO:0001589	frameshift_variant	79364				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:126178522delT	AK023923	CCDS43145.1, CCDS43146.1	3q21.3	2014-02-12			ENSG00000070476	ENSG00000070476		"""Zinc fingers, C2H2-type"""	28160	protein-coding gene	gene with protein product		615746				8619474, 9110174	Standard	XM_005247757		Approved	MGC11349, FLJ13861	uc003eiv.3	Q2QGD7	OTTHUMG00000162754	ENST00000389709.3:c.2186delA	3.37:g.126178522delT	ENSP00000374359:p.Lys729fs						p.K729fs	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	7	2239	-			729					C5J0H9|Q6DKI8|Q7L3L1|Q8NAU2	Frame_Shift_Del	DEL	ENST00000389709.3	37	c.2186delA	CCDS43145.1																																																																																				0.522	ZXDC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370327.2	NM_025112		7	356						7	356	---	---	---	---
TRGC1	6966	broad.mit.edu	37	7	38301855	38301856	+	RNA	DEL	GT	GT	-	rs531015144|rs539372318	byFrequency	TCGA-QT-A7U0-01A-11D-A35D-08	TCGA-QT-A7U0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7599c42d-e42b-4a22-bf08-ed78437a1652	f19ac3ac-2b5b-474c-8259-dd93c42aef05	g.chr7:38301855_38301856delGT	ENST00000443402.2	-	0	330					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1	P0CF51	TRGC1_HUMAN	T cell receptor gamma constant 1							integral component of membrane (GO:0016021)											TCAATTGTTCGTGTGTGTGTGT	0.356														5	0.000998403	0.0023	0.0	5008	,	,		19637	0.002		0.0	False		,,,				2504	0.0					ENST00000443402.2																			0																,	19,1,3534		0,0,19,0,1,1757					,	-0.1	0.0			199	9,6,7813		1,0,7,0,6,3900	no	intron,intron	TARP	NM_001003806.1,NM_001003799.1	,	1,0,26,0,7,5657	A1A1,A1A2,A1R,A2A2,A2R,RR		0.1916,0.5627,0.3075	,	,		28,7,11347						6966							g.chr7:38301855_38301856delGT	M14996		7p14	2012-02-07			ENSG00000211689	ENSG00000211689		"""T cell receptors / TRG locus"""	12275	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C1"""	186970		TCRGC1		2879283	Standard	NG_001336		Approved	C1		P0CF51	OTTHUMG00000155219		7.37:g.38301865_38301866delGT								NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1					0	330	-									RNA	DEL	ENST00000443402.2	37																																																																																						0.356	TRGC1-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338825.3	NG_001336		7	142						7	142	---	---	---	---
STAG3L2	442582	broad.mit.edu	37	7	74300804	74300804	+	RNA	DEL	A	A	-			TCGA-QT-A7U0-01A-11D-A35D-08	TCGA-QT-A7U0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7599c42d-e42b-4a22-bf08-ed78437a1652	f19ac3ac-2b5b-474c-8259-dd93c42aef05	g.chr7:74300804delA	ENST00000423186.1	-	0	499							P0CL84	ST3L2_HUMAN	stromal antigen 3-like 2 (pseudogene)							nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						CTTCATACTTAAAAAAAAAAA	0.458																																						ENST00000423186.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5																																														442582					nucleus	binding	g.chr7:74300804delA			7q11.23	2013-06-26	2013-06-26			ENSG00000277072			33886	pseudogene	pseudogene			"""stromal antigen 3-like 2"""				Standard	NR_040584		Approved	MGC131759, STAG3L2P	uc011kfj.2	P0CL84	OTTHUMG00000156216		7.37:g.74300804delA										P0CL84	ST3L2_HUMAN			0	499	-								A6NMT8|A8K0A1|Q32NE4|Q6NXR2|Q7L5M5|Q7Z5K6	RNA	DEL	ENST00000423186.1	37																																																																																						0.458	STAG3L2-002	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000343523.2	NM_001025202		3	5						3	5	---	---	---	---
LINC01609	101927487	broad.mit.edu	37	8	112239267	112239267	+	lincRNA	DEL	A	A	-			TCGA-QT-A7U0-01A-11D-A35D-08	TCGA-QT-A7U0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7599c42d-e42b-4a22-bf08-ed78437a1652	f19ac3ac-2b5b-474c-8259-dd93c42aef05	g.chr8:112239267delA	ENST00000522778.1	-	0	122																											AAGCCTAATGAATATTGTCCG	0.398																																						ENST00000522778.1																			0																																																			101927487							g.chr8:112239267delA																													8.37:g.112239267delA														0	122	-									RNA	DEL	ENST00000522778.1	37																																																																																						0.398	RP11-946L20.4-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000380896.1			2	4						2	4	---	---	---	---
MEDAG	84935	broad.mit.edu	37	13	31480851	31480852	+	Frame_Shift_Ins	INS	-	-	G			TCGA-QT-A7U0-01A-11D-A35D-08	TCGA-QT-A7U0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7599c42d-e42b-4a22-bf08-ed78437a1652	f19ac3ac-2b5b-474c-8259-dd93c42aef05	g.chr13:31480851_31480852insG	ENST00000380482.4	+	1	524_525	c.199_200insG	c.(199-201)cggfs	p.R67fs	TEX26-AS1_ENST00000588726.1_RNA|TEX26-AS1_ENST00000590344.1_RNA|TEX26-AS1_ENST00000585870.1_RNA|TEX26-AS1_ENST00000590721.1_RNA|TEX26-AS1_ENST00000593246.1_RNA|TEX26-AS1_ENST00000592950.1_RNA	NM_032849.3	NP_116238	Q5VYS4	MEDAG_HUMAN	mesenteric estrogen-dependent adipogenesis	67					positive regulation of fat cell differentiation (GO:0045600)	cytoplasm (GO:0005737)											ggcggcggcgcgggggggcTTC	0.738																																						ENST00000380482.4																			0											c.(199-201)gggfs		mesenteric estrogen-dependent adipogenesis																																				SO:0001589	frameshift_variant	84935							g.chr13:31480851_31480852insG	AB055407	CCDS9338.1	13q12.3	2013-10-11	2012-09-26	2012-09-26	ENSG00000102802	ENSG00000102802			25926	protein-coding gene	gene with protein product	"""mesenteric estrogen-dependent adipose 4"", ""activated in W/Wv mouse stomach 3 homolog"""		"""chromosome 13 open reading frame 33"""	C13orf33		22510272	Standard	NM_032849		Approved	FLJ14834, AWMS3, MEDA-4	uc001uth.4	Q5VYS4	OTTHUMG00000016679	ENST00000380482.4:c.206dupG	13.37:g.31480858_31480858dupG	ENSP00000369849:p.Arg67fs					TEX26-AS1_ENST00000592950.1_RNA|TEX26-AS1_ENST00000593246.1_RNA|TEX26-AS1_ENST00000588726.1_RNA|TEX26-AS1_ENST00000585870.1_RNA|TEX26-AS1_ENST00000590344.1_RNA	p.G67fs	NM_032849.3	NP_116238.2					1	524_525	+								Q8IXF1|Q96K26|Q96NC8	Frame_Shift_Ins	INS	ENST00000380482.4	37	c.199_200insG	CCDS9338.1																																																																																				0.738	MEDAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044375.1	NM_032849		2	4						2	4	---	---	---	---
RP13-329D4.3	0	broad.mit.edu	37	20	26113543	26113543	+	lincRNA	DEL	A	A	-	rs375245697		TCGA-QT-A7U0-01A-11D-A35D-08	TCGA-QT-A7U0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7599c42d-e42b-4a22-bf08-ed78437a1652	f19ac3ac-2b5b-474c-8259-dd93c42aef05	g.chr20:26113543delA	ENST00000416563.1	-	0	250																											TCTTTGCCTTAACAACATTAT	0.363																																						ENST00000416563.1																			0																																																			0							g.chr20:26113543delA																													20.37:g.26113543delA														0	250	-									RNA	DEL	ENST00000416563.1	37																																																																																						0.363	RP13-329D4.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000078482.1			2	4						2	4	---	---	---	---
COL18A1	80781	broad.mit.edu	37	21	46906873	46906874	+	Frame_Shift_Ins	INS	-	-	G			TCGA-QT-A7U0-01A-11D-A35D-08	TCGA-QT-A7U0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7599c42d-e42b-4a22-bf08-ed78437a1652	f19ac3ac-2b5b-474c-8259-dd93c42aef05	g.chr21:46906873_46906874insG	ENST00000359759.4	+	15	3066_3067	c.3045_3046insG	c.(3046-3048)gggfs	p.G1016fs	COL18A1_ENST00000355480.5_Frame_Shift_Ins_p.G781fs|COL18A1_ENST00000400337.2_Frame_Shift_Ins_p.G601fs			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1016	Triple-helical region 3 (COL3).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CTGGGCCCCCTGGGCCCCCAGG	0.728																																						ENST00000359759.4																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(3043-3048)ccggccfs		collagen, type XVIII, alpha 1																																				SO:0001589	frameshift_variant	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46906873_46906874insG		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.3048dupG	21.37:g.46906876_46906876dupG	ENSP00000352798:p.Gly1016fs					COL18A1_ENST00000400337.2_Frame_Shift_Ins_p.A601fs|COL18A1_ENST00000355480.5_Frame_Shift_Ins_p.A781fs	p.A1016fs			P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	15	3066_3067	+			1016			Triple-helical region 3 (COL3).		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Frame_Shift_Ins	INS	ENST00000359759.4	37	c.3045_3046insG																																																																																					0.728	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			2	4						2	4	---	---	---	---
