#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ANXA4	307	broad.mit.edu	37	2	70045734	70045734	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-A46D-01A-21D-A257-08	TCGA-EJ-A46D-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bfa7723-1fe3-42f2-8575-70305679ac12	35d8332c-f08f-40f6-9484-3b17a3081894	g.chr2:70045734T>G	ENST00000394295.4	+	10	880	c.632T>G	c.(631-633)tTt>tGt	p.F211C	ANXA4_ENST00000536030.1_Missense_Mutation_p.F127C|ANXA4_ENST00000409920.1_Missense_Mutation_p.F189C	NM_001153.3	NP_001144.1	P09525	ANXA4_HUMAN	annexin A4	209					epithelial cell differentiation (GO:0030855)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of interleukin-8 secretion (GO:2000483)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phospholipase inhibitor activity (GO:0004859)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11						TCTGCAGTGTTTGATGAATAC	0.333																																						ENST00000394295.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11						c.(631-633)tTt>tGt		annexin A4							98.0	97.0	97.0					2																	70045734		2203	4300	6503	SO:0001583	missense	307				anti-apoptosis|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity	g.chr2:70045734T>G	M82809	CCDS1894.1	2p13.3	2008-02-05			ENSG00000196975	ENSG00000196975		"""Annexins"""	542	protein-coding gene	gene with protein product		106491		ANX4		1346776	Standard	NM_001153		Approved		uc002sfr.4	P09525	OTTHUMG00000129649	ENST00000394295.4:c.632T>G	2.37:g.70045734T>G	ENSP00000377833:p.Phe211Cys		Somatic				ANXA4_ENST00000536030.1_Missense_Mutation_p.F127C|ANXA4_ENST00000409920.1_Missense_Mutation_p.F189C	p.F211C	NM_001153.3	NP_001144.1	WXS	Illumina GAIIx	Phase_I	P09525	ANXA4_HUMAN			10	880	+			209					B4DDF9|Q96F33|Q9BWK1	Missense_Mutation	SNP	ENST00000394295.4	37	c.632T>G	CCDS1894.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.204404	0.79127	.	.	ENSG00000196975	ENST00000409920;ENST00000394295;ENST00000536030	T;T;T	0.03831	3.79;3.79;3.79	5.75	5.75	0.90469	Annexin repeat, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.26376	0.0644	M	0.88775	2.98	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.02983	-1.1086	9	.	.	.	.	13.9865	0.64339	0.0:0.0:0.0:1.0	.	209;189;211	P09525;Q6P452;Q6LES2	ANXA4_HUMAN;.;.	C	189;211;127	ENSP00000386756:F189C;ENSP00000377833:F211C;ENSP00000441931:F127C	.	F	+	2	0	ANXA4	69899238	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.680000	0.84062	2.183000	0.69458	0.482000	0.46254	TTT		0.333	ANXA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251848.2	NM_001153		6	76	6	76	---	---	---	---
UGT1A1	54658	broad.mit.edu	37	2	234527191	234527191	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-A46D-01A-21D-A257-08	TCGA-EJ-A46D-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bfa7723-1fe3-42f2-8575-70305679ac12	35d8332c-f08f-40f6-9484-3b17a3081894	g.chr2:234527191G>T	ENST00000373450.4	+	1	901	c.838G>T	c.(838-840)Gga>Tga	p.G280*		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	283					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	CTGCCATCAGGGAAAGCCATT	0.403																																						ENST00000373450.4																			0				breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30						c.(838-840)Gga>Tga			Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)						192.0	187.0	188.0					2																	234527191		2203	4299	6502	SO:0001587	stop_gained	54658				bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	g.chr2:234527191G>T	M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"""UDP glucuronosyltransferases"""	12530	other	complex locus constituent		191740	"""UDP glycosyltransferase 1 family, polypeptide A1"""	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000373450.4:c.838G>T	2.37:g.234527191G>T	ENSP00000362549:p.Gly280*		Somatic					p.G280*	NM_019076.4	NP_061949.3	WXS	Illumina GAIIx	Phase_I	P22309	UD11_HUMAN		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	1	901	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)						A6NJC3|B8K286	Nonsense_Mutation	SNP	ENST00000373450.4	37	c.838G>T	CCDS33402.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.603991	0.87157	.	.	ENSG00000242366	ENST00000373450	.	.	.	3.96	-0.276	0.12902	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	4.3206	0.11015	0.4188:0.3292:0.252:0.0	.	.	.	.	X	280	.	ENSP00000362549:G280X	G	+	1	0	UGT1A8	234191930	0.000000	0.05858	0.002000	0.10522	0.068000	0.16541	-1.223000	0.02962	-0.155000	0.11098	0.505000	0.49811	GGA		0.403	UGT1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130994.1			13	270	13	270	---	---	---	---
SLC6A20	54716	broad.mit.edu	37	3	45812921	45812921	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A46D-01A-21D-A257-08	TCGA-EJ-A46D-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bfa7723-1fe3-42f2-8575-70305679ac12	35d8332c-f08f-40f6-9484-3b17a3081894	g.chr3:45812921C>A	ENST00000358525.4	-	6	838	c.723G>T	c.(721-723)tgG>tgT	p.W241C	SLC6A20_ENST00000353278.4_Missense_Mutation_p.W204C|SLC6A20_ENST00000456124.2_Missense_Mutation_p.W241C	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	241					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|glycine transport (GO:0015816)|ion transport (GO:0006811)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CTGCATTGATCCAGGCCTTGG	0.587																																						ENST00000358525.4																			0				breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13						c.(721-723)tgG>tgT		solute carrier family 6 (proline IMINO transporter), member 20							115.0	100.0	105.0					3																	45812921		2203	4300	6503	SO:0001583	missense	54716				cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr3:45812921C>A	AF075260	CCDS2730.1, CCDS43077.1	3p21.6	2013-05-22			ENSG00000163817	ENSG00000163817		"""Solute carriers"""	30927	protein-coding gene	gene with protein product		605616				9932288, 11352561	Standard	NM_022405		Approved	XT3, Xtrp3	uc011bai.2	Q9NP91	OTTHUMG00000133446	ENST00000358525.4:c.723G>T	3.37:g.45812921C>A	ENSP00000346298:p.Trp241Cys		Somatic				SLC6A20_ENST00000456124.2_Missense_Mutation_p.W241C|SLC6A20_ENST00000353278.4_Missense_Mutation_p.W204C	p.W241C	NM_020208.3	NP_064593.1	WXS	Illumina GAIIx	Phase_I	Q9NP91	S6A20_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)	6	838	-			241					A1A4F2|O75590|Q8TF10|Q9NPQ2|Q9NQ77	Missense_Mutation	SNP	ENST00000358525.4	37	c.723G>T	CCDS43077.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.354816	0.82243	.	.	ENSG00000163817	ENST00000353278;ENST00000358525;ENST00000456124;ENST00000413781	D;D;D;D	0.86497	-2.13;-2.13;-2.13;-2.13	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.95708	0.8604	H	0.95437	3.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97109	0.9803	10	0.87932	D	0	.	18.4034	0.90525	0.0:1.0:0.0:0.0	.	204;241	Q9NP91-2;Q9NP91	.;S6A20_HUMAN	C	204;241;241;194	ENSP00000296133:W204C;ENSP00000346298:W241C;ENSP00000404310:W241C;ENSP00000395506:W194C	ENSP00000296133:W204C	W	-	3	0	SLC6A20	45787925	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	7.784000	0.85713	2.342000	0.79632	0.467000	0.42956	TGG		0.587	SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257318.3	NM_020208		4	45	4	45	---	---	---	---
RBM6	10180	broad.mit.edu	37	3	50005401	50005401	+	Silent	SNP	T	T	C			TCGA-EJ-A46D-01A-21D-A257-08	TCGA-EJ-A46D-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bfa7723-1fe3-42f2-8575-70305679ac12	35d8332c-f08f-40f6-9484-3b17a3081894	g.chr3:50005401T>C	ENST00000266022.4	+	3	802	c.543T>C	c.(541-543)taT>taC	p.Y181Y	RBM6_ENST00000539992.1_Intron|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000422955.1_Intron|RBM6_ENST00000443081.1_Silent_p.Y49Y|RBM6_ENST00000441115.1_Intron	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	181					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		GGGGCACTTATGATTTAGATT	0.498																																						ENST00000443081.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33						c.(145-147)taT>taC		RNA binding motif protein 6							46.0	49.0	48.0					3																	50005401		2203	4300	6503	SO:0001819	synonymous_variant	10180				RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr3:50005401T>C	AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.543T>C	3.37:g.50005401T>C			Somatic				RBM6_ENST00000266022.4_Silent_p.Y181Y|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000422955.1_Intron|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000539992.1_Intron	p.Y49Y			WXS	Illumina GAIIx	Phase_I	P78332	RBM6_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)	3	1066	+			181					O60549|O75524|Q86SS3	Silent	SNP	ENST00000266022.4	37	c.147T>C	CCDS2809.1																																																																																				0.498	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4	NM_005777		6	53	6	53	---	---	---	---
WDFY3	23001	broad.mit.edu	37	4	85758212	85758212	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A46D-01A-21D-A257-08	TCGA-EJ-A46D-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bfa7723-1fe3-42f2-8575-70305679ac12	35d8332c-f08f-40f6-9484-3b17a3081894	g.chr4:85758212A>G	ENST00000295888.4	-	7	853	c.446T>C	c.(445-447)gTg>gCg	p.V149A	WDFY3_ENST00000322366.6_Missense_Mutation_p.V149A	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	149					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GGTGGAAGGCACTGACATTGT	0.413																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(445-447)gTg>gCg		WD repeat and FYVE domain containing 3							80.0	72.0	75.0					4																	85758212		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85758212A>G	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.446T>C	4.37:g.85758212A>G	ENSP00000295888:p.Val149Ala		Somatic				WDFY3_ENST00000295888.4_Missense_Mutation_p.V149A	p.V149A			WXS	Illumina GAIIx	Phase_I	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	7	853	-		Hepatocellular(203;0.114)	149					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.446T>C	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.819629	0.90873	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.18016	2.24;2.24	5.76	5.76	0.90799	.	0.058843	0.64402	D	0.000002	T	0.28632	0.0709	M	0.66939	2.045	0.80722	D	1	D;D	0.58620	0.962;0.983	P;P	0.47673	0.554;0.55	T	0.04216	-1.0968	10	0.87932	D	0	.	16.0697	0.80914	1.0:0.0:0.0:0.0	.	149;149	E2QRK8;Q8IZQ1	.;WDFY3_HUMAN	A	149	ENSP00000318466:V149A;ENSP00000295888:V149A	ENSP00000295888:V149A	V	-	2	0	WDFY3	85977236	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.157000	0.94714	2.190000	0.69967	0.374000	0.22700	GTG		0.413	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		6	45	6	45	---	---	---	---
COQ3	51805	broad.mit.edu	37	6	99817564	99817564	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A46D-01A-21D-A257-08	TCGA-EJ-A46D-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bfa7723-1fe3-42f2-8575-70305679ac12	35d8332c-f08f-40f6-9484-3b17a3081894	g.chr6:99817564G>A	ENST00000254759.3	-	7	1046	c.1022C>T	c.(1021-1023)tCt>tTt	p.S341F	COQ3_ENST00000369242.1_Missense_Mutation_p.S113F|COQ3_ENST00000369240.1_Missense_Mutation_p.S113F	NM_017421.3	NP_059117.3	Q9NZJ6	COQ3_HUMAN	coenzyme Q3 methyltransferase	341					glycerol metabolic process (GO:0006071)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity (GO:0008425)|3-demethylubiquinone-9 3-O-methyltransferase activity (GO:0008689)|hexaprenyldihydroxybenzoate methyltransferase activity (GO:0004395)|O-methyltransferase activity (GO:0008171)			cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		AAACTCAGCAGAGGCTGGGTG	0.453																																						ENST00000254759.3																			0				cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8						c.(1021-1023)tCt>tTt		coenzyme Q3 methyltransferase							154.0	156.0	155.0					6																	99817564		2203	4300	6503	SO:0001583	missense	51805				glycerol metabolic process|ubiquinone biosynthetic process	mitochondrial matrix	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity	g.chr6:99817564G>A	AF193016	CCDS5042.1	6q21	2013-05-01	2013-05-01		ENSG00000132423	ENSG00000132423	2.1.1.114		18175	protein-coding gene	gene with protein product	"""polyprenyldihydroxybenzoate methyltransferase"""	605196	"""coenzyme Q3 homolog, methyltransferase (yeast)"", ""coenzyme Q3 homolog, methyltransferase (S. cerevisiae)"""			10777520	Standard	NM_017421		Approved	bA9819.1	uc003ppk.3	Q9NZJ6	OTTHUMG00000015264	ENST00000254759.3:c.1022C>T	6.37:g.99817564G>A	ENSP00000254759:p.Ser341Phe		Somatic				COQ3_ENST00000369240.1_Missense_Mutation_p.S113F|COQ3_ENST00000369242.1_Missense_Mutation_p.S113F	p.S341F	NM_017421.3	NP_059117.3	WXS	Illumina GAIIx	Phase_I	Q9NZJ6	COQ3_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0625)	7	1046	-		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)	341					B3KPX0|Q5T061|Q6P4F0|Q8IXG6|Q96BG1|Q9H0N1	Missense_Mutation	SNP	ENST00000254759.3	37	c.1022C>T	CCDS5042.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.745326	0.49151	.	.	ENSG00000132423	ENST00000254759;ENST00000369242;ENST00000369240	T;T;T	0.32272	1.87;1.46;1.46	4.66	2.84	0.33178	.	0.597498	0.18482	N	0.139890	T	0.09512	0.0234	N	0.22421	0.69	0.09310	N	1	P	0.49559	0.925	P	0.44811	0.461	T	0.06023	-1.0850	10	0.87932	D	0	-21.7504	5.7127	0.17943	0.0774:0.1368:0.6442:0.1415	.	341	Q9NZJ6	COQ3_HUMAN	F	341;113;113	ENSP00000254759:S341F;ENSP00000358245:S113F;ENSP00000358243:S113F	ENSP00000254759:S341F	S	-	2	0	COQ3	99924285	0.049000	0.20398	0.149000	0.22428	0.035000	0.12851	2.532000	0.45659	0.639000	0.30564	0.650000	0.86243	TCT		0.453	COQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041602.1	NM_017421		21	151	21	151	---	---	---	---
PEX3	8504	broad.mit.edu	37	6	143780272	143780272	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-A46D-01A-21D-A257-08	TCGA-EJ-A46D-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bfa7723-1fe3-42f2-8575-70305679ac12	35d8332c-f08f-40f6-9484-3b17a3081894	g.chr6:143780272G>T	ENST00000367591.4	+	2	187	c.124G>T	c.(124-126)Gaa>Taa	p.E42*		NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	42	Targeting to peroxisomes.				peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome membrane (GO:0045046)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of peroxisomal membrane (GO:0005779)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)|protein-lipid complex (GO:0032994)	lipid binding (GO:0008289)|protein dimerization activity (GO:0046983)			endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		AGAAATACAGGAAAGGGAGGC	0.348																																						ENST00000367591.4																			0				endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18						c.(124-126)Gaa>Taa		peroxisomal biogenesis factor 3							105.0	102.0	103.0					6																	143780272		2203	4300	6503	SO:0001587	stop_gained	8504				protein import into peroxisome membrane|transmembrane transport	integral to peroxisomal membrane	protein binding	g.chr6:143780272G>T	AJ001625	CCDS5199.1	6q24.2	2008-05-15			ENSG00000034693	ENSG00000034693			8858	protein-coding gene	gene with protein product		603164				9657383	Standard	NM_003630		Approved		uc003qjl.3	P56589	OTTHUMG00000015730	ENST00000367591.4:c.124G>T	6.37:g.143780272G>T	ENSP00000356563:p.Glu42*		Somatic					p.E42*	NM_003630.2	NP_003621.1	WXS	Illumina GAIIx	Phase_I	P56589	PEX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)	2	187	+			42			Targeting to peroxisomes.		Q6FGP5	Nonsense_Mutation	SNP	ENST00000367591.4	37	c.124G>T	CCDS5199.1	.	.	.	.	.	.	.	.	.	.	G	37	6.091587	0.97276	.	.	ENSG00000034693	ENST00000367591	.	.	.	5.76	4.89	0.63831	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-22.5427	14.712	0.69241	0.0697:0.0:0.9303:0.0	.	.	.	.	X	42	.	ENSP00000356563:E42X	E	+	1	0	PEX3	143821965	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.398000	0.97281	1.432000	0.47375	0.591000	0.81541	GAA		0.348	PEX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042525.1			6	62	6	62	---	---	---	---
ABTB2	25841	broad.mit.edu	37	11	34186310	34186310	+	Missense_Mutation	SNP	C	C	A	rs369224575		TCGA-EJ-A46D-01A-21D-A257-08	TCGA-EJ-A46D-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bfa7723-1fe3-42f2-8575-70305679ac12	35d8332c-f08f-40f6-9484-3b17a3081894	g.chr11:34186310C>A	ENST00000435224.2	-	9	2335	c.1911G>T	c.(1909-1911)atG>atT	p.M637I	ABTB2_ENST00000298992.2_Missense_Mutation_p.M451I	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	637					cellular response to toxic substance (GO:0097237)	nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				GGGCCTCCAGCATGCTGAGGA	0.627																																						ENST00000435224.2																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1909-1911)atG>atT		ankyrin repeat and BTB (POZ) domain containing 2							58.0	52.0	54.0					11																	34186310		2202	4298	6500	SO:0001583	missense	25841						DNA binding	g.chr11:34186310C>A	AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.1911G>T	11.37:g.34186310C>A	ENSP00000410157:p.Met637Ile		Somatic				ABTB2_ENST00000298992.2_Missense_Mutation_p.M451I	p.M637I	NM_145804.2	NP_665803.2	WXS	Illumina GAIIx	Phase_I	A8K6S9	A8K6S9_HUMAN			9	2335	-		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)	451					A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Missense_Mutation	SNP	ENST00000435224.2	37	c.1911G>T	CCDS7890.2	.	.	.	.	.	.	.	.	.	.	C	10.40	1.340467	0.24339	.	.	ENSG00000166016	ENST00000435224;ENST00000298992	T;T	0.59364	0.27;0.28	5.57	4.65	0.58169	Ankyrin repeat-containing domain (3);	0.199495	0.51477	D	0.000089	T	0.45155	0.1328	N	0.19112	0.55	0.34230	D	0.676449	B	0.02656	0.0	B	0.01281	0.0	T	0.54556	-0.8276	10	0.72032	D	0.01	-14.7159	15.7394	0.77876	0.1377:0.8623:0.0:0.0	.	451	Q8N961	ABTB2_HUMAN	I	637;451	ENSP00000410157:M637I;ENSP00000298992:M451I	ENSP00000298992:M451I	M	-	3	0	ABTB2	34142886	1.000000	0.71417	0.998000	0.56505	0.176000	0.22953	2.120000	0.41968	1.326000	0.45319	0.561000	0.74099	ATG		0.627	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388703.3	NM_145804		3	34	3	34	---	---	---	---
PRX	57716	broad.mit.edu	37	19	40901385	40901385	+	Silent	SNP	C	C	T			TCGA-EJ-A46D-01A-21D-A257-08	TCGA-EJ-A46D-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bfa7723-1fe3-42f2-8575-70305679ac12	35d8332c-f08f-40f6-9484-3b17a3081894	g.chr19:40901385C>T	ENST00000324001.7	-	7	3144	c.2874G>A	c.(2872-2874)aaG>aaA	p.K958K	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	958					axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ATTTGGATACCTTCAGCTTGG	0.607																																						ENST00000324001.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(2872-2874)aaG>aaA		periaxin							84.0	95.0	91.0					19																	40901385		2203	4300	6503	SO:0001819	synonymous_variant	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40901385C>T	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.2874G>A	19.37:g.40901385C>T			Somatic				PRX_ENST00000291825.7_3'UTR	p.K958K	NM_181882.2	NP_870998.2	WXS	Illumina GAIIx	Phase_I	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	3144	-			958					Q9BXL9|Q9HCF2	Silent	SNP	ENST00000324001.7	37	c.2874G>A	CCDS33028.1																																																																																				0.607	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		13	130	13	130	---	---	---	---
SERPIND1	3053	broad.mit.edu	37	22	21141285	21141285	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A46D-01A-21D-A257-08	TCGA-EJ-A46D-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bfa7723-1fe3-42f2-8575-70305679ac12	35d8332c-f08f-40f6-9484-3b17a3081894	g.chr22:21141285C>G	ENST00000215727.5	+	5	1714	c.1431C>G	c.(1429-1431)ttC>ttG	p.F477L	PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000466162.1_Intron|SERPIND1_ENST00000406799.1_Missense_Mutation_p.F477L|PI4KA_ENST00000255882.6_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	477					blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)|Sulodexide(DB06271)	CCTTTCTTTTCCTCATCTACG	0.592																																						ENST00000215727.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1429-1431)ttC>ttG		serpin peptidase inhibitor, clade D (heparin cofactor), member 1	Ardeparin(DB00407)						117.0	90.0	99.0					22																	21141285		2203	4300	6503	SO:0001583	missense	3053				blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity	g.chr22:21141285C>G	M12849	CCDS13783.1	22q11.21	2014-02-18	2005-08-18		ENSG00000099937	ENSG00000099937		"""Serine (or cysteine) peptidase inhibitors"""	4838	protein-coding gene	gene with protein product	"""heparin cofactor II"""	142360	"""serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1"""	HCF2		1671335, 24172014	Standard	XM_005261597		Approved	HC-II, HLS2, HC2, D22S673	uc002ztb.1	P05546	OTTHUMG00000150755	ENST00000215727.5:c.1431C>G	22.37:g.21141285C>G	ENSP00000215727:p.Phe477Leu		Somatic				SERPIND1_ENST00000406799.1_Missense_Mutation_p.F477L|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000572273.1_Intron	p.F477L	NM_000185.3	NP_000176.2	WXS	Illumina GAIIx	Phase_I	P05546	HEP2_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		5	1714	+	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	477					B2RAI1|D3DX34|Q6IBZ5	Missense_Mutation	SNP	ENST00000215727.5	37	c.1431C>G	CCDS13783.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.253786	0.59212	.	.	ENSG00000099937	ENST00000215727;ENST00000406799	D;D	0.91631	-2.88;-2.88	4.72	2.59	0.31030	Serpin domain (3);Protease inhibitor I4, serpin, conserved site (1);	0.048447	0.85682	D	0.000000	D	0.94679	0.8284	M	0.74647	2.275	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.74674	0.984;0.984	D	0.94115	0.7374	10	0.59425	D	0.04	.	10.5853	0.45280	0.0:0.7803:0.0:0.2197	.	477;477	Q8IVC0;P05546	.;HEP2_HUMAN	L	477	ENSP00000215727:F477L;ENSP00000384050:F477L	ENSP00000215727:F477L	F	+	3	2	SERPIND1	19471285	0.989000	0.36119	0.997000	0.53966	0.822000	0.46500	0.305000	0.19254	1.229000	0.43630	0.655000	0.94253	TTC		0.592	SERPIND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319961.1	NM_000185		11	78	11	78	---	---	---	---
KRTAP19-3	337970	broad.mit.edu	37	21	31864115	31864115	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-A46D-01A-21D-A257-08	TCGA-EJ-A46D-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bfa7723-1fe3-42f2-8575-70305679ac12	35d8332c-f08f-40f6-9484-3b17a3081894	g.chr21:31864115delC	ENST00000334063.4	-	1	160	c.161delG	c.(160-162)ggafs	p.G54fs		NM_181609.3	NP_853640.1	Q7Z4W3	KR193_HUMAN	keratin associated protein 19-3	54						intermediate filament (GO:0005882)				large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	9						AGAGCCATATCCATAGCCTCC	0.537																																						ENST00000334063.4																			0				large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	9						c.(160-162)ggafs		keratin associated protein 19-3				2,4262		0,2,2130	190.0	196.0	194.0			-8.9	0.0	21		194	15,8239		0,15,4112	no	frameshift	KRTAP19-3	NM_181609.3		0,17,6242	A1A1,A1R,RR		0.1817,0.0469,0.1358			31864115	17,12501	2203	4300	6503	SO:0001589	frameshift_variant	337970					intermediate filament		g.chr21:31864115delC	AP001708	CCDS13596.1	21q22.1	2011-02-10			ENSG00000244025	ENSG00000244025		"""Keratin associated proteins"""	18938	protein-coding gene	gene with protein product						12359730	Standard	NM_181609		Approved	KAP19.3	uc002yog.1	Q7Z4W3	OTTHUMG00000057782	ENST00000334063.4:c.161delG	21.37:g.31864115delC	ENSP00000386376:p.Gly54fs		Somatic					p.G54fs	NM_181609.3	NP_853640.1	WXS	Illumina GAIIx	Phase_I	Q7Z4W3	KR193_HUMAN			1	160	-			54						Frame_Shift_Del	DEL	ENST00000334063.4	37	c.161delG	CCDS13596.1																																																																																				0.537	KRTAP19-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128234.2			8	343	8	343	---	---	---	---
