#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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CYP4Z1	199974	broad.mit.edu	37	1	47533298	47533298	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr1:47533298T>C	ENST00000334194.3	+	1	139	c.136T>C	c.(136-138)Ttt>Ctt	p.F46L		NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	46						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						CCTGCACCTGTTTCCTGCACC	0.498																																						ENST00000334194.3																			0				cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						c.(136-138)Ttt>Ctt		cytochrome P450, family 4, subfamily Z, polypeptide 1							93.0	89.0	90.0					1																	47533298		2203	4300	6503	SO:0001583	missense	199974					endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr1:47533298T>C	AY262056	CCDS545.1	1p33	2008-02-05			ENSG00000186160	ENSG00000186160		"""Cytochrome P450s"""	20583	protein-coding gene	gene with protein product						15059886	Standard	NM_178134		Approved	CYP4A20	uc001cqu.1	Q86W10	OTTHUMG00000008019	ENST00000334194.3:c.136T>C	1.37:g.47533298T>C	ENSP00000334246:p.Phe46Leu						p.F46L	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN			1	139	+			46					Q5VVE4	Missense_Mutation	SNP	ENST00000334194.3	37	c.136T>C	CCDS545.1	.	.	.	.	.	.	.	.	.	.	T	16.37	3.105164	0.56291	.	.	ENSG00000186160	ENST00000334194	T	0.67345	-0.26	3.1	3.1	0.35709	.	0.000000	0.64402	U	0.000010	T	0.70552	0.3237	L	0.39898	1.24	0.26499	N	0.974801	D	0.63880	0.993	D	0.72625	0.978	T	0.60357	-0.7279	10	0.87932	D	0	.	7.6568	0.28379	0.0:0.0:0.0:1.0	.	46	Q86W10	CP4Z1_HUMAN	L	46	ENSP00000334246:F46L	ENSP00000334246:F46L	F	+	1	0	CYP4Z1	47305885	0.811000	0.29063	0.167000	0.22817	0.013000	0.08279	2.269000	0.43346	1.274000	0.44362	0.378000	0.23410	TTT		0.498	CYP4Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022020.1	NM_178134		31	43	31	43	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158655065	158655065	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr1:158655065T>A	ENST00000368147.4	-	2	277	c.97A>T	c.(97-99)Act>Tct	p.T33S		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	33					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGATACCGAGTCAACACTTCC	0.478																																						ENST00000368147.4																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(97-99)Act>Tct		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							139.0	140.0	140.0					1																	158655065		1926	4136	6062	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158655065T>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.97A>T	1.37:g.158655065T>A	ENSP00000357129:p.Thr33Ser						p.T33S	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			2	277	-	all_hematologic(112;0.0378)							Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.97A>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	T	8.730	0.916406	0.17907	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.33216	1.42;1.42	4.98	-0.478	0.12093	.	2.014550	0.03104	N	0.161482	T	0.01835	0.0058	N	0.00368	-1.59	0.21105	N	0.999786	B	0.02656	0.0	B	0.01281	0.0	T	0.40813	-0.9543	10	0.02654	T	1	.	10.8676	0.46864	0.0:0.5859:0.0:0.4141	.	33	P02549	SPTA1_HUMAN	S	33	ENSP00000357130:T33S;ENSP00000357129:T33S	ENSP00000357129:T33S	T	-	1	0	SPTA1	156921689	0.997000	0.39634	0.011000	0.14972	0.979000	0.70002	0.878000	0.28126	-0.247000	0.09597	0.383000	0.25322	ACT		0.478	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		40	81	40	81	---	---	---	---
GCC2	9648	broad.mit.edu	37	2	109106455	109106455	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr2:109106455C>T	ENST00000309863.6	+	18	4928	c.4214C>T	c.(4213-4215)gCg>gTg	p.A1405V		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1405					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						TCCAAAGAGGCGGAACTCCGG	0.398																																						ENST00000309863.6																			0				breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(4213-4215)gCg>gTg		GRIP and coiled-coil domain containing 2							73.0	66.0	68.0					2																	109106455		2203	4300	6503	SO:0001583	missense	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109106455C>T	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.4214C>T	2.37:g.109106455C>T	ENSP00000307939:p.Ala1405Val						p.A1405V	NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN			18	4928	+			1405					A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	37	c.4214C>T	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	C	33	5.197628	0.94997	.	.	ENSG00000135968	ENST00000309863	T	0.37752	1.18	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.51261	0.1664	L	0.36672	1.1	0.58432	D	0.999997	D	0.76494	0.999	D	0.68765	0.96	T	0.25676	-1.0125	10	0.30854	T	0.27	.	20.2982	0.98569	0.0:1.0:0.0:0.0	.	1405	Q8IWJ2	GCC2_HUMAN	V	1405	ENSP00000307939:A1405V	ENSP00000307939:A1405V	A	+	2	0	GCC2	108472887	1.000000	0.71417	0.970000	0.41538	0.863000	0.49368	7.128000	0.77217	2.873000	0.98535	0.563000	0.77884	GCG		0.398	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		10	20	10	20	---	---	---	---
DNER	92737	broad.mit.edu	37	2	230271991	230271991	+	Missense_Mutation	SNP	G	G	T	rs200801433	byFrequency	TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr2:230271991G>T	ENST00000341772.4	-	10	1814	c.1680C>A	c.(1678-1680)agC>agA	p.S560R		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	560	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Follistatin-like.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)	p.S560S(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TCAGGCCGTCGCTGTCACAGG	0.512																																						ENST00000341772.4																			1	Substitution - coding silent(1)	p.S560S(1)	large_intestine(1)	NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63						c.(1678-1680)agC>agA		delta/notch-like EGF repeat containing							140.0	125.0	130.0					2																	230271991		2203	4300	6503	SO:0001583	missense	92737				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	g.chr2:230271991G>T	AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.1680C>A	2.37:g.230271991G>T	ENSP00000345229:p.Ser560Arg						p.S560R	NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)	10	1814	-		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)	560			EGF-like 9.|Follistatin-like.		A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Missense_Mutation	SNP	ENST00000341772.4	37	c.1680C>A	CCDS33390.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.417508	0.42918	.	.	ENSG00000187957	ENST00000341772;ENST00000543700	D	0.93659	-3.26	5.6	-11.2	0.00127	Follistatin-like, N-terminal (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.073593	0.85682	D	0.000000	D	0.92338	0.7569	L	0.41027	1.25	0.37874	D	0.930158	D	0.63046	0.992	P	0.56916	0.809	D	0.92487	0.5997	10	0.72032	D	0.01	.	23.7236	0.99985	0.2478:0.0:0.7522:0.0	.	560	Q8NFT8	DNER_HUMAN	R	560;278	ENSP00000345229:S560R	ENSP00000345229:S560R	S	-	3	2	DNER	229980235	0.004000	0.15560	0.039000	0.18376	0.688000	0.40055	-1.469000	0.02348	-2.653000	0.00423	-1.166000	0.01754	AGC		0.512	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1	NM_139072		6	121	6	121	---	---	---	---
NBEAL2	23218	broad.mit.edu	37	3	47038461	47038461	+	Silent	SNP	C	C	A			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr3:47038461C>A	ENST00000450053.3	+	18	2753	c.2574C>A	c.(2572-2574)atC>atA	p.I858I	NBEAL2_ENST00000292309.5_Silent_p.I858I|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	858					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		AGAACAACATCTGCCTGGACC	0.622																																						ENST00000450053.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(2572-2574)atC>atA		neurobeachin-like 2							49.0	53.0	51.0					3																	47038461		2132	4269	6401	SO:0001819	synonymous_variant	23218						binding	g.chr3:47038461C>A	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.2574C>A	3.37:g.47038461C>A						NBEAL2_ENST00000292309.5_Silent_p.I858I|NBEAL2_ENST00000383740.2_5'UTR	p.I858I	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	18	2753	+		Acute lymphoblastic leukemia(5;0.0534)	858					O60288|Q6P994|Q6UX91|Q8NAC9	Silent	SNP	ENST00000450053.3	37	c.2574C>A	CCDS46817.1	.	.	.	.	.	.	.	.	.	.	C	6.038	0.375376	0.11409	.	.	ENSG00000160796	ENST00000416683	.	.	.	4.43	3.55	0.40652	.	.	.	.	.	T	0.69584	0.3127	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67397	-0.5681	4	.	.	.	.	14.6301	0.68650	0.0:0.9188:0.0:0.0812	.	.	.	.	Y	330	.	.	S	+	2	0	NBEAL2	47013465	0.997000	0.39634	1.000000	0.80357	0.696000	0.40369	0.502000	0.22594	0.608000	0.30000	-1.598000	0.00824	TCT		0.622	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		8	27	8	27	---	---	---	---
PARP9	83666	broad.mit.edu	37	3	122274491	122274491	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr3:122274491C>T	ENST00000360356.2	-	4	859	c.632G>A	c.(631-633)gGa>gAa	p.G211E	PARP9_ENST00000477522.2_Missense_Mutation_p.G176E|PARP9_ENST00000471785.1_Missense_Mutation_p.G176E|PARP9_ENST00000462315.1_Missense_Mutation_p.G176E|PARP9_ENST00000492382.1_Intron	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	211	Macro 1. {ECO:0000255|PROSITE- ProRule:PRU00490}.				cell migration (GO:0016477)|double-strand break repair (GO:0006302)|regulation of response to interferon-gamma (GO:0060330)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		CTGCAGCTTTCCAGTACATCC	0.463																																						ENST00000462315.1																			0				endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34						c.(526-528)gGa>gAa		poly (ADP-ribose) polymerase family, member 9							74.0	71.0	72.0					3																	122274491		2203	4300	6503	SO:0001583	missense	83666				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr3:122274491C>T	AF307339	CCDS3014.1, CCDS54633.1, CCDS54634.1	3q13-q21	2010-02-16			ENSG00000138496	ENSG00000138496		"""Poly (ADP-ribose) polymerases"""	24118	protein-coding gene	gene with protein product		612065				11110709	Standard	NM_031458		Approved	BAL, BAL1	uc003efi.3	Q8IXQ6	OTTHUMG00000159522	ENST00000360356.2:c.632G>A	3.37:g.122274491C>T	ENSP00000353512:p.Gly211Glu					PARP9_ENST00000477522.2_Missense_Mutation_p.G176E|PARP9_ENST00000471785.1_Missense_Mutation_p.G176E|PARP9_ENST00000360356.2_Missense_Mutation_p.G211E|PARP9_ENST00000492382.1_Intron	p.G176E	NM_001146106.1	NP_001139578.1	Q8IXQ6	PARP9_HUMAN		GBM - Glioblastoma multiforme(114;0.0519)	4	820	-			211			Macro 1.		A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Missense_Mutation	SNP	ENST00000360356.2	37	c.527G>A	CCDS3014.1	.	.	.	.	.	.	.	.	.	.	C	0.690	-0.794820	0.02862	.	.	ENSG00000138496	ENST00000360356;ENST00000477522;ENST00000471785;ENST00000452457;ENST00000462315	T;T;T;T	0.17854	2.25;2.25;2.25;2.25	5.49	-6.51	0.01878	Appr-1-p processing (3);	4.359540	0.00166	N	0.000009	T	0.02970	0.0088	N	0.00493	-1.44	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.35325	-0.9793	10	0.02654	T	1	.	1.6445	0.02759	0.2413:0.3124:0.089:0.3573	.	176;211;176	E9PFM7;Q8IXQ6;Q8IXQ6-2	.;PARP9_HUMAN;.	E	211;176;176;134;176	ENSP00000353512:G211E;ENSP00000419506:G176E;ENSP00000419001:G176E;ENSP00000418894:G176E	ENSP00000353512:G211E	G	-	2	0	PARP9	123757181	0.003000	0.15002	0.000000	0.03702	0.000000	0.00434	0.878000	0.28126	-0.864000	0.04078	-0.812000	0.03155	GGA		0.463	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355957.1	NM_031458		7	35	7	35	---	---	---	---
RGMB	285704	broad.mit.edu	37	5	98115306	98115306	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr5:98115306A>C	ENST00000513185.1	+	2	595	c.159A>C	c.(157-159)caA>caC	p.Q53H	RGMB_ENST00000308234.7_Missense_Mutation_p.Q94H|RGMB_ENST00000504776.1_3'UTR			Q6NW40	RGMB_HUMAN	repulsive guidance molecule family member b	53					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell adhesion (GO:0007155)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)	identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		AGCCAGCCCAATGTCGAATCC	0.468																																						ENST00000308234.7																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10						c.(280-282)caA>caC		repulsive guidance molecule family member b							184.0	185.0	184.0					5																	98115306		2008	4159	6167	SO:0001583	missense	285704				axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent	anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft	identical protein binding	g.chr5:98115306A>C	AK074887	CCDS47251.1	5q21.1	2013-11-06	2013-11-06		ENSG00000174136	ENSG00000174136			26896	protein-coding gene	gene with protein product		612687	"""RGM domain family, member B"""			19324014	Standard	NM_001012761		Approved	FLJ90406, DRAGON	uc003knc.3	Q6NW40	OTTHUMG00000162745	ENST00000513185.1:c.159A>C	5.37:g.98115306A>C	ENSP00000423256:p.Gln53His					RGMB_ENST00000504776.1_3'UTR|RGMB_ENST00000513185.1_Missense_Mutation_p.Q53H	p.Q94H	NM_001012761.2	NP_001012779.2	Q6NW40	RGMB_HUMAN		COAD - Colon adenocarcinoma(37;0.0587)	4	684	+		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)	53					D6R9A0|Q8NC92	Missense_Mutation	SNP	ENST00000513185.1	37	c.282A>C		.	.	.	.	.	.	.	.	.	.	A	18.14	3.557021	0.65425	.	.	ENSG00000174136	ENST00000308234;ENST00000513185	D;D	0.94046	-3.34;-3.32	5.31	-10.0	0.00425	Repulsive guidance molecule, N-terminal (1);	0.172886	0.52532	D	0.000065	D	0.93184	0.7829	M	0.66939	2.045	0.40383	D	0.979469	D	0.61080	0.989	D	0.63113	0.911	D	0.95809	0.8840	10	0.46703	T	0.11	-6.651	12.6552	0.56784	0.5297:0.0:0.3961:0.0742	.	53	Q6NW40	RGMB_HUMAN	H	94;53	ENSP00000308219:Q94H;ENSP00000423256:Q53H	ENSP00000308219:Q94H	Q	+	3	2	RGMB	98143206	0.531000	0.26338	0.128000	0.21923	0.893000	0.52053	-0.211000	0.09332	-2.672000	0.00413	-1.204000	0.01649	CAA		0.468	RGMB-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370308.1	NM_173670		88	108	88	108	---	---	---	---
PCDHGB7	56099	broad.mit.edu	37	5	140799248	140799248	+	Missense_Mutation	SNP	G	G	A	rs377117997		TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr5:140799248G>A	ENST00000398594.2	+	1	1822	c.1822G>A	c.(1822-1824)Gtg>Atg	p.V608M	PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	608	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCCTACCACGTGGTGCAGGC	0.687																																						ENST00000398594.2																			0				central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56						c.(1822-1824)Gtg>Atg				G	,,,,,,,,,,,,,,,MET/VAL,,MET/VAL	0,4382		0,0,2191	37.0	42.0	41.0		,,,,,,,,,,,,,,,1822,,1822	3.8	1.0	5		41	2,8590		0,2,4294	no	intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,missense,intron,missense	PCDHGB4,PCDHGA8,PCDHGB7,PCDHGB6,PCDHGB5,PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA10,PCDHGA9,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_003736.2,NM_018912.2,NM_018913.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018919.2,NM_018920.2,NM_018921.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_018925.2,NM_018926.2,NM_018927.3,NM_032088.1,NM_032101.2	,,,,,,,,,,,,,,,21,,21	0,2,6485	AA,AG,GG		0.0233,0.0,0.0154	,,,,,,,,,,,,,,,,,	,,,,,,,,,,,,,,,608/930,,608/809	140799248	2,12972	2191	4296	6487	SO:0001583	missense	56099							g.chr5:140799248G>A	AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"""Cadherins / Protocadherins : Clustered"""	8714	other	protocadherin	"""cadherin ME6"""	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.1822G>A	5.37:g.140799248G>A	ENSP00000381594:p.Val608Met					PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron	p.V608M	NM_018927.3	NP_061750.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1822	+								Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	37	c.1822G>A	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	g	13.69	2.311377	0.40895	0.0	2.33E-4	ENSG00000254122	ENST00000398594	T	0.52295	0.67	5.57	3.78	0.43462	Cadherin (4);Cadherin-like (1);	0.000000	0.30076	U	0.010477	T	0.53449	0.1797	L	0.52823	1.66	0.23249	N	0.998042	D;D	0.71674	0.998;0.993	P;P	0.60473	0.875;0.705	T	0.47045	-0.9147	10	0.62326	D	0.03	.	4.1663	0.10308	0.0761:0.1739:0.5018:0.2483	.	608;608	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	M	608	ENSP00000381594:V608M	ENSP00000381594:V608M	V	+	1	0	PCDHGB7	140779432	0.001000	0.12720	1.000000	0.80357	0.586000	0.36452	-0.045000	0.12003	0.701000	0.31803	-0.424000	0.05967	GTG		0.687	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927		4	105	4	105	---	---	---	---
PCDH12	51294	broad.mit.edu	37	5	141336228	141336228	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr5:141336228G>C	ENST00000231484.3	-	1	2399	c.1189C>G	c.(1189-1191)Ctg>Gtg	p.L397V	PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	397	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGTGGCCCAGCTCTTGGCTC	0.488																																						ENST00000231484.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38						c.(1189-1191)Ctg>Gtg		protocadherin 12							122.0	114.0	117.0					5																	141336228		2203	4300	6503	SO:0001583	missense	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141336228G>C	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.1189C>G	5.37:g.141336228G>C	ENSP00000231484:p.Leu397Val						p.L397V	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2399	-		all_hematologic(541;0.0999)	397			Cadherin 4.		Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	ENST00000231484.3	37	c.1189C>G	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	G	5.344	0.248714	0.10130	.	.	ENSG00000113555	ENST00000231484	T	0.51325	0.71	4.92	3.14	0.36123	Cadherin (4);Cadherin-like (1);	0.654660	0.15426	N	0.262968	T	0.29783	0.0744	L	0.28054	0.825	0.09310	N	1	P	0.37573	0.6	B	0.36808	0.233	T	0.11348	-1.0591	10	0.08599	T	0.76	.	9.4304	0.38606	0.1547:0.0:0.8453:0.0	.	397	Q9NPG4	PCD12_HUMAN	V	397	ENSP00000231484:L397V	ENSP00000231484:L397V	L	-	1	2	PCDH12	141316412	0.000000	0.05858	0.836000	0.33094	0.996000	0.88848	0.678000	0.25277	0.675000	0.31264	0.561000	0.74099	CTG		0.488	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		5	96	5	96	---	---	---	---
TEX15	56154	broad.mit.edu	37	8	30701886	30701886	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr8:30701886C>T	ENST00000256246.2	-	1	4722	c.4648G>A	c.(4648-4650)Gac>Aac	p.D1550N		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1550					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GACTGCGAGTCTTTACTAACT	0.388																																						ENST00000256246.2																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(4648-4650)Gac>Aac		testis expressed 15							192.0	191.0	191.0					8																	30701886		2203	4300	6503	SO:0001583	missense	56154							g.chr8:30701886C>T	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.4648G>A	8.37:g.30701886C>T	ENSP00000256246:p.Asp1550Asn						p.D1550N	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	4722	-			1550						Missense_Mutation	SNP	ENST00000256246.2	37	c.4648G>A	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.316442	0.23908	.	.	ENSG00000133863	ENST00000256246	T	0.11821	2.74	5.47	1.57	0.23409	.	0.636064	0.15283	N	0.270573	T	0.07954	0.0199	N	0.20685	0.6	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.30179	-0.9987	10	0.87932	D	0	.	4.5403	0.12054	0.0:0.5347:0.1809:0.2844	.	1550	Q9BXT5	TEX15_HUMAN	N	1550	ENSP00000256246:D1550N	ENSP00000256246:D1550N	D	-	1	0	TEX15	30821428	0.001000	0.12720	0.000000	0.03702	0.015000	0.08874	-0.054000	0.11826	0.064000	0.16427	0.655000	0.94253	GAC		0.388	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			38	70	38	70	---	---	---	---
A1CF	29974	broad.mit.edu	37	10	52596043	52596043	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr10:52596043C>T	ENST00000373993.1	-	4	439	c.395G>A	c.(394-396)aGt>aAt	p.S132N	A1CF_ENST00000282641.2_Missense_Mutation_p.S132N|A1CF_ENST00000373997.3_Missense_Mutation_p.S132N|A1CF_ENST00000373995.3_Missense_Mutation_p.S140N|A1CF_ENST00000395489.2_Missense_Mutation_p.S125N|A1CF_ENST00000374001.2_Missense_Mutation_p.S132N|A1CF_ENST00000395495.1_Missense_Mutation_p.S132N			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	132	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GTTGTCCACACTGGCACAAAC	0.433																																						ENST00000374001.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						c.(394-396)aGt>aAt		APOBEC1 complementation factor							71.0	72.0	71.0					10																	52596043		2203	4300	6503	SO:0001583	missense	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52596043C>T	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"""RNA binding motif (RRM) containing"""	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.395G>A	10.37:g.52596043C>T	ENSP00000363105:p.Ser132Asn					A1CF_ENST00000282641.2_Missense_Mutation_p.S132N|A1CF_ENST00000373995.3_Missense_Mutation_p.S140N|A1CF_ENST00000395489.2_Missense_Mutation_p.S125N|A1CF_ENST00000395495.1_Missense_Mutation_p.S132N|A1CF_ENST00000373997.3_Missense_Mutation_p.S132N|A1CF_ENST00000373993.1_Missense_Mutation_p.S132N	p.S132N			Q9NQ94	A1CF_HUMAN			5	534	-						RRM 1.		A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Missense_Mutation	SNP	ENST00000373993.1	37	c.395G>A	CCDS7242.1	.	.	.	.	.	.	.	.	.	.	C	32	5.178742	0.94846	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395495;ENST00000395488;ENST00000395489;ENST00000414883	T;T;T;T;T;T;T;T	0.15834	2.4;2.39;2.4;3.22;2.39;3.22;3.22;3.22	6.04	6.04	0.98038	RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.53786	0.1818	M	0.92367	3.3	0.80722	D	1	B;B;P;P	0.48998	0.176;0.11;0.918;0.52	P;B;D;P	0.69654	0.505;0.226;0.965;0.683	T	0.61232	-0.7104	10	0.87932	D	0	-10.6991	18.0887	0.89466	0.0:1.0:0.0:0.0	.	125;132;132;140	F8W9F8;Q9NQ94;Q9NQ94-2;Q9NQ94-4	.;A1CF_HUMAN;.;.	N	132;132;132;140;132;132;115;125;132	ENSP00000363113:S132N;ENSP00000363105:S132N;ENSP00000363109:S132N;ENSP00000363107:S140N;ENSP00000282641:S132N;ENSP00000378873:S132N;ENSP00000378868:S125N;ENSP00000397953:S132N	ENSP00000282641:S132N	S	-	2	0	A1CF	52266049	1.000000	0.71417	0.977000	0.42913	0.970000	0.65996	7.731000	0.84895	2.873000	0.98535	0.563000	0.77884	AGT		0.433	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		31	39	31	39	---	---	---	---
CCDC70	83446	broad.mit.edu	37	13	52439722	52439722	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr13:52439722T>C	ENST00000242819.4	+	2	504	c.208T>C	c.(208-210)Tgg>Cgg	p.W70R		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	70						extracellular region (GO:0005576)|plasma membrane (GO:0005886)				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		GGAAGAGATGTGGACTTTCCG	0.468																																						ENST00000242819.4																			0				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15						c.(208-210)Tgg>Cgg		coiled-coil domain containing 70							62.0	68.0	66.0					13																	52439722		2203	4300	6503	SO:0001583	missense	83446					extracellular region|plasma membrane		g.chr13:52439722T>C		CCDS9431.1	13q14.3	2006-02-07			ENSG00000123171	ENSG00000123171			25303	protein-coding gene	gene with protein product						11230166	Standard	NM_031290		Approved	DKFZP434K1172, FLJ25853	uc001vfu.4	Q6NSX1	OTTHUMG00000016950	ENST00000242819.4:c.208T>C	13.37:g.52439722T>C	ENSP00000242819:p.Trp70Arg						p.W70R	NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN		GBM - Glioblastoma multiforme(99;2.4e-08)	2	504	+		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)	70					Q8N7A8|Q9H097	Missense_Mutation	SNP	ENST00000242819.4	37	c.208T>C	CCDS9431.1	.	.	.	.	.	.	.	.	.	.	T	0.009	-1.802895	0.00611	.	.	ENSG00000123171	ENST00000242819	T	0.27104	1.69	5.34	-0.341	0.12639	.	0.338064	0.26096	N	0.026376	T	0.20170	0.0485	M	0.70595	2.14	0.09310	N	1	P	0.39782	0.688	B	0.40534	0.332	T	0.18777	-1.0326	10	0.09843	T	0.71	-24.8187	3.1732	0.06560	0.2938:0.1694:0.0:0.5368	.	70	Q6NSX1	CCD70_HUMAN	R	70	ENSP00000242819:W70R	ENSP00000242819:W70R	W	+	1	0	CCDC70	51337723	0.007000	0.16637	0.002000	0.10522	0.002000	0.02628	0.301000	0.19174	0.031000	0.15407	-0.490000	0.04691	TGG		0.468	CCDC70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045033.2	NM_031290		32	52	32	52	---	---	---	---
STK24	8428	broad.mit.edu	37	13	99127163	99127163	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr13:99127163G>T	ENST00000376547.3	-	5	690	c.545C>A	c.(544-546)aCa>aAa	p.T182K	STK24_ENST00000539966.1_Missense_Mutation_p.T151K|STK24_ENST00000397517.2_Missense_Mutation_p.T170K	NM_003576.3	NP_003567.2	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24	182	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of cell migration (GO:0030336)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of axon regeneration (GO:0048679)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CTGGGTGTCTGTCAGCTGGCC	0.612																																						ENST00000397517.2																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17						c.(508-510)aCa>aAa		serine/threonine kinase 24							65.0	67.0	66.0					13																	99127163		2203	4300	6503	SO:0001583	missense	8428				cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr13:99127163G>T	AF024636	CCDS9488.1, CCDS32001.1, CCDS66573.1	13q31.2-q32.3	2010-06-25	2010-06-25		ENSG00000102572	ENSG00000102572			11403	protein-coding gene	gene with protein product	"""STE20-like kinase 3"", ""sterile 20-like kinase 3"""	604984	"""serine/threonine kinase 24 (Ste20, yeast homolog)"""			9353338, 10644707	Standard	NM_003576		Approved	MST-3, MST3, MST3B, STK3, STE20	uc001vnn.1	Q9Y6E0	OTTHUMG00000017250	ENST00000376547.3:c.545C>A	13.37:g.99127163G>T	ENSP00000365730:p.Thr182Lys					STK24_ENST00000539966.1_Missense_Mutation_p.T151K|STK24_ENST00000376547.3_Missense_Mutation_p.T182K	p.T170K	NM_001032296.2	NP_001027467.2	Q9Y6E0	STK24_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		5	585	-	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		182			Protein kinase.		O14840|Q5JV92	Missense_Mutation	SNP	ENST00000376547.3	37	c.509C>A	CCDS9488.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.73|19.73	3.881107|3.881107	0.72294|0.72294	.|.	.|.	ENSG00000102572|ENSG00000102572	ENST00000444574|ENST00000397517;ENST00000376547;ENST00000539966;ENST00000376533;ENST00000543110	.|T;T;T	.|0.65178	.|-0.14;-0.14;-0.14	5.24|5.24	4.38|4.38	0.52667|0.52667	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.109437	.|0.39210	.|U	.|0.001425	T|T	0.56140|0.56140	0.1965|0.1965	N|N	0.02192|0.02192	-0.645|-0.645	0.80722|0.80722	D|D	1|1	.|P;D;D	.|0.71674	.|0.789;0.994;0.998	.|B;P;D	.|0.65987	.|0.161;0.811;0.94	T|T	0.71361|0.71361	-0.4616|-0.4616	5|10	.|0.87932	.|D	.|0	.|.	15.3486|15.3486	0.74363|0.74363	0.0:0.0:0.8591:0.1409|0.0:0.0:0.8591:0.1409	.|.	.|151;170;182	.|B4DR80;Q5U0E6;Q9Y6E0	.|.;.;STK24_HUMAN	E|K	87|170;182;151;158;170	.|ENSP00000380651:T170K;ENSP00000365730:T182K;ENSP00000442539:T151K	.|ENSP00000365716:T158K	D|T	-|-	3|2	2|0	STK24|STK24	97925164|97925164	1.000000|1.000000	0.71417|0.71417	0.863000|0.863000	0.33907|0.33907	0.844000|0.844000	0.47949|0.47949	9.480000|9.480000	0.97931|0.97931	1.304000|1.304000	0.44892|0.44892	0.655000|0.655000	0.94253|0.94253	GAC|ACA		0.612	STK24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045549.2	NM_003576		13	33	13	33	---	---	---	---
CTSG	1511	broad.mit.edu	37	14	25043658	25043658	+	Silent	SNP	C	C	A			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr14:25043658C>A	ENST00000216336.2	-	4	423	c.387G>T	c.(385-387)ctG>ctT	p.L129L		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	129	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		GGGCTCTAGGCAGAGCCACTG	0.627																																						ENST00000216336.2																			0				autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25						c.(385-387)ctG>ctT		cathepsin G							112.0	111.0	111.0					14																	25043658		2203	4300	6503	SO:0001819	synonymous_variant	1511				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	g.chr14:25043658C>A	M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"""Cathepsins"", ""Endogenous ligands"""	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.387G>T	14.37:g.25043658C>A							p.L129L	NM_001911.2	NP_001902.1	P08311	CATG_HUMAN		GBM - Glioblastoma multiforme(265;0.0269)	4	423	-			129			Peptidase S1.		Q6IBJ6|Q9UCA5|Q9UCU6	Silent	SNP	ENST00000216336.2	37	c.387G>T	CCDS9631.1																																																																																				0.627	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276536.2	NM_001911		21	107	21	107	---	---	---	---
SCG3	29106	broad.mit.edu	37	15	51975311	51975311	+	Silent	SNP	A	A	G			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr15:51975311A>G	ENST00000220478.3	+	3	574	c.171A>G	c.(169-171)acA>acG	p.T57T	SCG3_ENST00000542355.2_5'UTR	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	57					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		TTAAAAAAACATATCCTCCAG	0.343																																						ENST00000220478.3																			0				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(169-171)acA>acG		secretogranin III							91.0	100.0	97.0					15																	51975311		2195	4293	6488	SO:0001819	synonymous_variant	29106				platelet activation|platelet degranulation	extracellular region|stored secretory granule		g.chr15:51975311A>G	AF078851	CCDS10142.1, CCDS53947.1	15q21.2	2013-09-23			ENSG00000104112	ENSG00000104112			13707	protein-coding gene	gene with protein product		611796				2053134, 8825061	Standard	NM_013243		Approved	SGIII, FLJ90833	uc002abh.3	Q8WXD2	OTTHUMG00000131748	ENST00000220478.3:c.171A>G	15.37:g.51975311A>G						SCG3_ENST00000542355.2_5'UTR	p.T57T	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN		all cancers(107;0.00488)	3	574	+			57					A8K2B0|B3KQP6|B4DK99|F5H3R8|Q96C83|Q96GE8|Q9Y6G7	Silent	SNP	ENST00000220478.3	37	c.171A>G	CCDS10142.1																																																																																				0.343	SCG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254670.2	NM_013243		39	42	39	42	---	---	---	---
SULT4A1	25830	broad.mit.edu	37	22	44234801	44234801	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr22:44234801T>A	ENST00000330884.4	-	4	574	c.454A>T	c.(454-456)Atg>Ttg	p.M152L	SULT4A1_ENST00000540422.1_Intron|SULT4A1_ENST00000249130.5_Missense_Mutation_p.M152L	NM_014351.3	NP_055166.1	Q9BR01	ST4A1_HUMAN	sulfotransferase family 4A, member 1	152					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)			kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		CGGTAGCTCATGGTCCGCAGA	0.532																																						ENST00000330884.4																			0				kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9						c.(454-456)Atg>Ttg		sulfotransferase family 4A, member 1							108.0	88.0	95.0					22																	44234801		2203	4300	6503	SO:0001583	missense	25830				3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	sulfotransferase activity	g.chr22:44234801T>A	AF188698	CCDS14051.1	22q13.2	2012-11-05			ENSG00000130540	ENSG00000130540		"""Sulfotransferases, cytosolic"""	14903	protein-coding gene	gene with protein product		608359				10698717	Standard	NM_014351		Approved	SULTX3, hBR-STL-1	uc003bee.1	Q9BR01	OTTHUMG00000141314	ENST00000330884.4:c.454A>T	22.37:g.44234801T>A	ENSP00000332565:p.Met152Leu					SULT4A1_ENST00000249130.5_Missense_Mutation_p.M152L|SULT4A1_ENST00000540422.1_Intron	p.M152L	NM_014351.3	NP_055166.1	Q9BR01	ST4A1_HUMAN		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)	4	574	-		Ovarian(80;0.024)|all_neural(38;0.0416)	152					B2R7N3|O43728	Missense_Mutation	SNP	ENST00000330884.4	37	c.454A>T	CCDS14051.1	.	.	.	.	.	.	.	.	.	.	T	10.24	1.296310	0.23650	.	.	ENSG00000130540	ENST00000330884;ENST00000249130	T;T	0.01422	4.91;4.91	4.82	4.82	0.62117	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	T	0.00815	0.0027	N	0.02658	-0.545	0.58432	D	0.999997	B	0.32893	0.389	B	0.34536	0.185	T	0.60964	-0.7158	10	0.06365	T	0.9	.	13.5437	0.61690	0.0:0.0:0.0:1.0	.	152	Q9BR01	ST4A1_HUMAN	L	152	ENSP00000332565:M152L;ENSP00000249130:M152L	ENSP00000249130:M152L	M	-	1	0	SULT4A1	42566134	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.629000	0.83207	1.809000	0.52856	0.459000	0.35465	ATG		0.532	SULT4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280660.2	NM_014351		25	48	25	48	---	---	---	---
DOCK11	139818	broad.mit.edu	37	X	117775256	117775256	+	Silent	SNP	T	T	C	rs137900857		TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chrX:117775256T>C	ENST00000276202.7	+	39	4311	c.4248T>C	c.(4246-4248)acT>acC	p.T1416T	DOCK11_ENST00000276204.6_Silent_p.T1416T	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1416					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CATTTTTCACTCAGTGCTTCA	0.383																																						ENST00000276204.6																			0				breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						c.(4246-4248)acT>acC		dedicator of cytokinesis 11							102.0	80.0	87.0					X																	117775256		2203	4300	6503	SO:0001819	synonymous_variant	139818				blood coagulation	cytosol	GTP binding	g.chrX:117775256T>C	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.4248T>C	X.37:g.117775256T>C						DOCK11_ENST00000276202.7_Silent_p.T1416T	p.T1416T			Q5JSL3	DOC11_HUMAN			39	4322	+			1416					A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Silent	SNP	ENST00000276202.7	37	c.4248T>C	CCDS35373.1																																																																																				0.383	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		18	22	18	22	---	---	---	---
