#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SIGLEC9	27180	broad.mit.edu	37	19	51628487	51628487	+	Missense_Mutation	SNP	G	G	A			TCGA-S7-A7WO-01A-11D-A35I-08	TCGA-S7-A7WO-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	751155ce-fde0-4b45-95ed-cdc7ff67e7e7	6b372fa4-36b7-4afc-a858-6e48fbea228c	g.chr19:51628487G>A	ENST00000250360.3	+	1	323	c.256G>A	c.(256-258)Gag>Aag	p.E86K	SIGLEC9_ENST00000440804.3_Missense_Mutation_p.E86K	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	86	Ig-like V-type.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		AGTGTGGGAGGAGACTCGGGA	0.572																																						ENST00000440804.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45						c.(256-258)Gag>Aag		sialic acid binding Ig-like lectin 9							108.0	97.0	101.0					19																	51628487		2203	4300	6503	SO:0001583	missense	27180				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	g.chr19:51628487G>A	AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.256G>A	19.37:g.51628487G>A	ENSP00000250360:p.Glu86Lys					SIGLEC9_ENST00000250360.3_Missense_Mutation_p.E86K	p.E86K	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)	1	323	+		all_neural(266;0.0529)	86			Ig-like V-type.		Q6GTU4|Q9BYI9	Missense_Mutation	SNP	ENST00000250360.3	37	c.256G>A	CCDS12825.1	.	.	.	.	.	.	.	.	.	.	.	11.28	1.593326	0.28357	.	.	ENSG00000129450	ENST00000440804;ENST00000250360	T;T	0.65732	-0.17;-0.17	2.75	-1.23	0.09465	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.618732	0.13194	N	0.406475	T	0.52435	0.1734	L	0.53729	1.69	0.09310	N	1	P	0.38597	0.639	B	0.40009	0.316	T	0.45264	-0.9273	10	0.45353	T	0.12	.	5.8915	0.18915	0.4343:0.0:0.5657:0.0	.	86	Q9Y336	SIGL9_HUMAN	K	86	ENSP00000413861:E86K;ENSP00000250360:E86K	ENSP00000250360:E86K	E	+	1	0	SIGLEC9	56320299	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.210000	0.17455	-0.061000	0.13110	0.411000	0.27672	GAG		0.572	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441		5	80	0	0	0	1	0	5	80				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C	rs368571207		TCGA-S7-A7WO-01A-11D-A35I-08	TCGA-S7-A7WO-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	751155ce-fde0-4b45-95ed-cdc7ff67e7e7	6b372fa4-36b7-4afc-a858-6e48fbea228c	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682																																						ENST00000432432.2																			1	Substitution - Missense(1)	p.E49G(1)	kidney(1)																																																729171							g.chr2:95522772T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522772T>C								NR_040113.1						0	255	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.682	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			3	40	0	0	0	1	0	3	40				
ACRC	93953	broad.mit.edu	37	X	70823569	70823569	+	Missense_Mutation	SNP	G	G	C			TCGA-S7-A7WO-01A-11D-A35I-08	TCGA-S7-A7WO-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	751155ce-fde0-4b45-95ed-cdc7ff67e7e7	6b372fa4-36b7-4afc-a858-6e48fbea228c	g.chrX:70823569G>C	ENST00000373695.1	+	7	979	c.442G>C	c.(442-444)Gct>Cct	p.A148P	ACRC_ENST00000373696.3_Missense_Mutation_p.A148P			Q96QF7	ACRC_HUMAN	acidic repeat containing	148	Asp/Ser-rich.					nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					TGATTCAGAAGCTCCCGACGA	0.483																																						ENST00000373695.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54						c.(442-444)Gct>Cct		acidic repeat containing							216.0	191.0	199.0					X																	70823569		2203	4300	6503	SO:0001583	missense	93953					nucleus		g.chrX:70823569G>C	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.442G>C	X.37:g.70823569G>C	ENSP00000362799:p.Ala148Pro					ACRC_ENST00000373696.3_Missense_Mutation_p.A148P	p.A148P			Q96QF7	ACRC_HUMAN			7	979	+	Renal(35;0.156)		148			Asp/Ser-rich.		B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	c.442G>C	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	G	8.022	0.759850	0.15846	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.44083	0.93;0.93	0.225	0.225	0.15325	.	.	.	.	.	T	0.18800	0.0451	N	0.14661	0.345	0.09310	N	1	D	0.54964	0.969	B	0.34991	0.193	T	0.13442	-1.0509	8	0.59425	D	0.04	.	.	.	.	.	148	Q96QF7	ACRC_HUMAN	P	148	ENSP00000362800:A148P;ENSP00000362799:A148P	ENSP00000362799:A148P	A	+	1	0	ACRC	70740294	0.076000	0.21285	0.002000	0.10522	0.002000	0.02628	4.057000	0.57455	0.280000	0.22209	0.284000	0.19432	GCT		0.483	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			8	256	0	0	0	1	0	8	256				
SNTG2	54221	broad.mit.edu	37	2	1241771	1241771	+	Silent	SNP	G	G	A			TCGA-S7-A7WO-01A-11D-A35I-08	TCGA-S7-A7WO-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	751155ce-fde0-4b45-95ed-cdc7ff67e7e7	6b372fa4-36b7-4afc-a858-6e48fbea228c	g.chr2:1241771G>A	ENST00000308624.5	+	10	960	c.831G>A	c.(829-831)agG>agA	p.R277R	SNTG2_ENST00000407292.1_Silent_p.R150R	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	277					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CCAACATCAGGGAGCTGACAC	0.537																																						ENST00000308624.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(829-831)agG>agA		syntrophin, gamma 2							31.0	36.0	34.0					2																	1241771		2190	4281	6471	SO:0001819	synonymous_variant	54221				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	g.chr2:1241771G>A	AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.831G>A	2.37:g.1241771G>A						SNTG2_ENST00000407292.1_Silent_p.R150R	p.R277R	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)	10	960	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)	277					Q05AH5	Silent	SNP	ENST00000308624.5	37	c.831G>A	CCDS46220.1																																																																																				0.537	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1	NM_018968		7	6	0	0	0	1	0	7	6				
ZNF207	7756	broad.mit.edu	37	17	30677312	30677312	+	Missense_Mutation	SNP	G	G	A			TCGA-S7-A7WO-01A-11D-A35I-08	TCGA-S7-A7WO-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	751155ce-fde0-4b45-95ed-cdc7ff67e7e7	6b372fa4-36b7-4afc-a858-6e48fbea228c	g.chr17:30677312G>A	ENST00000321233.6	+	1	162	c.8G>A	c.(7-9)cGc>cAc	p.R3H	MIR632_ENST00000385193.1_RNA|RP11-227G15.3_ENST00000581915.1_RNA|ZNF207_ENST00000342555.6_5'UTR|ZNF207_ENST00000394670.4_Missense_Mutation_p.R3H|ZNF207_ENST00000341711.6_Missense_Mutation_p.R3H|ZNF207_ENST00000394673.2_Missense_Mutation_p.R3H|ZNF207_ENST00000577908.1_Missense_Mutation_p.R3H	NM_003457.3	NP_003448.1	O43670	ZN207_HUMAN	zinc finger protein 207	3	Microtubule-binding region.				attachment of spindle microtubules to kinetochore (GO:0008608)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein stabilization (GO:0050821)|regulation of chromosome segregation (GO:0051983)|regulation of transcription, DNA-templated (GO:0006355)	kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			GTTATGGGTCGCAAGAAGAAG	0.537																																						ENST00000394670.4																			0				breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10						c.(7-9)cGc>cAc		zinc finger protein 207							205.0	196.0	199.0					17																	30677312		2203	4300	6503	SO:0001583	missense	7756					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:30677312G>A	AF046001	CCDS11271.1, CCDS32614.1, CCDS42294.1	17q11.2	2008-07-10			ENSG00000010244	ENSG00000010244		"""Zinc fingers, C2H2-type"""	12998	protein-coding gene	gene with protein product		603428				9799612	Standard	NM_001098507		Approved		uc002hhj.4	O43670	OTTHUMG00000132810	ENST00000321233.6:c.8G>A	17.37:g.30677312G>A	ENSP00000322777:p.Arg3His					ZNF207_ENST00000341711.6_Missense_Mutation_p.R3H|ZNF207_ENST00000577908.1_Missense_Mutation_p.R3H|ZNF207_ENST00000394673.2_Missense_Mutation_p.R3H|ZNF207_ENST00000321233.6_Missense_Mutation_p.R3H|ZNF207_ENST00000342555.6_5'UTR|RP11-227G15.3_ENST00000581915.1_RNA	p.R3H	NM_001098507.1	NP_001091977.1	O43670	ZN207_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.239)		1	177	+		Breast(31;0.116)|Ovarian(249;0.182)	3					A8K6Y6|E1P660|E1P661|E1P662|Q53XS9|Q96HW5|Q9BUQ7	Missense_Mutation	SNP	ENST00000321233.6	37	c.8G>A	CCDS11271.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.741474	0.89573	.	.	ENSG00000010244	ENST00000394670;ENST00000394673;ENST00000394679;ENST00000321233;ENST00000341711;ENST00000342555	T;T;T;T	0.14391	2.51;2.51;2.51;2.51	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.41166	0.1147	M	0.80982	2.52	0.47737	D	0.9995	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.74674	0.984;0.984;0.984;0.984	T	0.37454	-0.9705	10	0.87932	D	0	.	17.1425	0.86757	0.0:0.0:1.0:0.0	.	6;3;3;3	Q59G94;E1P660;O43670-2;O43670	.;.;.;ZN207_HUMAN	H	3;3;6;3;3;3	ENSP00000378165:R3H;ENSP00000378168:R3H;ENSP00000322777:R3H;ENSP00000344913:R3H	ENSP00000322777:R3H	R	+	2	0	ZNF207	27701425	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.189000	0.77747	2.470000	0.83445	0.655000	0.94253	CGC		0.537	ZNF207-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256251.2			6	143	0	0	0	1	0	6	143				
POTEC	388468	broad.mit.edu	37	18	14513675	14513675	+	Missense_Mutation	SNP	T	T	C	rs371810308	byFrequency	TCGA-S7-A7WO-01A-11D-A35I-08	TCGA-S7-A7WO-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	751155ce-fde0-4b45-95ed-cdc7ff67e7e7	6b372fa4-36b7-4afc-a858-6e48fbea228c	g.chr18:14513675T>C	ENST00000358970.5	-	10	1518	c.1519A>G	c.(1519-1521)Aaa>Gaa	p.K507E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	507								p.K507E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAATTCATTTTCTTTTCAGCC	0.284													.|||	3	0.000599042	0.0	0.0	5008	,	,		16953	0.003		0.0	False		,,,				2504	0.0					ENST00000358970.5																			2	Substitution - Missense(2)	p.K507E(2)	urinary_tract(1)|prostate(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1519-1521)Aaa>Gaa		POTE ankyrin domain family, member C							164.0	115.0	130.0					18																	14513675		692	1590	2282	SO:0001583	missense	388468							g.chr18:14513675T>C	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1519A>G	18.37:g.14513675T>C	ENSP00000351856:p.Lys507Glu						p.K507E	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			10	1518	-			507						Missense_Mutation	SNP	ENST00000358970.5	37	c.1519A>G	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	t	0.001	-3.812128	0.00004	.	.	ENSG00000183206	ENST00000358970	T	0.32753	1.44	1.53	-3.07	0.05363	.	.	.	.	.	T	0.10165	0.0249	N	0.11427	0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31752	-0.9932	9	0.02654	T	1	.	3.0168	0.06063	0.0:0.3604:0.2511:0.3885	.	507	B2RU33	POTEC_HUMAN	E	507	ENSP00000351856:K507E	ENSP00000351856:K507E	K	-	1	0	POTEC	14503675	0.024000	0.19004	0.012000	0.15200	0.024000	0.10985	-0.021000	0.12504	-1.054000	0.03214	-3.018000	0.00074	AAA		0.284	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		4	103	0	0	0	1	0	4	103				
ANKRD36C	400986	broad.mit.edu	37	2	96523162	96523162	+	Silent	SNP	G	G	T	rs549237245		TCGA-S7-A7WO-01A-11D-A35I-08	TCGA-S7-A7WO-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	751155ce-fde0-4b45-95ed-cdc7ff67e7e7	6b372fa4-36b7-4afc-a858-6e48fbea228c	g.chr2:96523162G>T	ENST00000456556.1	-	62	4059	c.3975C>A	c.(3973-3975)atC>atA	p.I1325I	ANKRD36C_ENST00000419039.2_Silent_p.I352I|ANKRD36C_ENST00000420871.2_Silent_p.I576I			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	1325							ion channel inhibitor activity (GO:0008200)	p.I1325I(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GCTCTTCTGTGATTCTTAACT	0.343																																						ENST00000456556.1																			1	Substitution - coding silent(1)	p.I1325I(1)	prostate(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(3973-3975)atC>atA		ankyrin repeat domain 36C																																				SO:0001819	synonymous_variant	400986							g.chr2:96523162G>T	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.3975C>A	2.37:g.96523162G>T						ANKRD36C_ENST00000420871.2_Silent_p.I576I|ANKRD36C_ENST00000419039.2_Silent_p.I352I	p.I1325I							62	4059	-								C9JZ08|Q15694|Q53S06|Q658V2	Silent	SNP	ENST00000456556.1	37	c.3975C>A																																																																																					0.343	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		4	6	1	0	0.00909568	1	0.00974537	4	6				
GNA12	2768	broad.mit.edu	37	7	2771272	2771272	+	Missense_Mutation	SNP	C	C	T			TCGA-S7-A7WO-01A-11D-A35I-08	TCGA-S7-A7WO-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	751155ce-fde0-4b45-95ed-cdc7ff67e7e7	6b372fa4-36b7-4afc-a858-6e48fbea228c	g.chr7:2771272C>T	ENST00000275364.3	-	4	851	c.689G>A	c.(688-690)gGc>gAc	p.G230D	GNA12_ENST00000407904.3_Missense_Mutation_p.G171D|GNA12_ENST00000544127.1_Missense_Mutation_p.G137D|GNA12_ENST00000407653.1_Missense_Mutation_p.G154D|AMZ1_ENST00000489665.1_Intron|GNA12_ENST00000491117.1_5'UTR|GNA12_ENST00000396960.3_Missense_Mutation_p.G82D	NM_007353.2	NP_031379.2	Q03113	GNA12_HUMAN	guanine nucleotide binding protein (G protein) alpha 12	230					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|embryonic digit morphogenesis (GO:0042733)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|platelet activation (GO:0030168)|regulation of cell shape (GO:0008360)|regulation of fibroblast migration (GO:0010762)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)|response to drug (GO:0042493)|Rho protein signal transduction (GO:0007266)	brush border membrane (GO:0031526)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)		GGACCGCTGGCCGCCCACATC	0.542																																						ENST00000275364.3																			0				endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(688-690)gGc>gAc		guanine nucleotide binding protein (G protein) alpha 12							86.0	78.0	80.0					7																	2771272		2203	4300	6503	SO:0001583	missense	2768				G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity	g.chr7:2771272C>T	L01694	CCDS5335.1, CCDS64584.1, CCDS64583.1	7p22.3	2006-07-08			ENSG00000146535	ENSG00000146535			4380	protein-coding gene	gene with protein product		604394				8423800, 16247467	Standard	NM_007353		Approved	gep	uc003smu.3	Q03113	OTTHUMG00000023064	ENST00000275364.3:c.689G>A	7.37:g.2771272C>T	ENSP00000275364:p.Gly230Asp					GNA12_ENST00000491117.1_5'UTR|GNA12_ENST00000396960.3_Missense_Mutation_p.G82D|GNA12_ENST00000544127.1_Missense_Mutation_p.G137D|GNA12_ENST00000407904.3_Missense_Mutation_p.G171D|AMZ1_ENST00000489665.1_Intron|GNA12_ENST00000407653.1_Missense_Mutation_p.G154D	p.G230D	NM_007353.2	NP_031379.2	Q03113	GNA12_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)	4	851	-		Ovarian(82;0.0112)	230					A4D204|B3KXS2|B7Z3F7|Q2T9L1|Q5PPR5|Q86UM8|Q8TD71|Q9UDU9	Missense_Mutation	SNP	ENST00000275364.3	37	c.689G>A	CCDS5335.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.723787	0.89298	.	.	ENSG00000146535	ENST00000275364;ENST00000407904;ENST00000407653;ENST00000396960;ENST00000544127	D;D;D;D;D	0.99194	-5.54;-5.54;-5.54;-5.54;-5.54	6.17	5.3	0.74995	.	0.048236	0.85682	D	0.000000	D	0.99641	0.9868	H	0.99156	4.45	0.80722	D	1	P;D;P	0.89917	0.702;1.0;0.702	P;D;P	0.97110	0.746;1.0;0.812	D	0.97213	0.9872	10	0.87932	D	0	.	15.565	0.76284	0.0:0.9345:0.0:0.0655	.	230;230;171	Q5PPR5;Q03113;B3KXS2	.;GNA12_HUMAN;.	D	230;171;154;82;137	ENSP00000275364:G230D;ENSP00000385935:G171D;ENSP00000386054:G154D;ENSP00000380160:G82D;ENSP00000437469:G137D	ENSP00000275364:G230D	G	-	2	0	GNA12	2737798	1.000000	0.71417	0.991000	0.47740	0.977000	0.68977	7.720000	0.84759	1.636000	0.50526	-0.136000	0.14681	GGC		0.542	GNA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241608.1	NM_007353		4	125	0	0	0	1	0	4	125				
OTOP1	133060	broad.mit.edu	37	4	4228274	4228282	+	In_Frame_Del	DEL	CCACAGCAG	CCACAGCAG	-	rs75328065|rs199840382|rs111245977|rs377667898|rs200554408|rs201436152	byFrequency	TCGA-S7-A7WO-01A-11D-A35I-08	TCGA-S7-A7WO-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	751155ce-fde0-4b45-95ed-cdc7ff67e7e7	6b372fa4-36b7-4afc-a858-6e48fbea228c	g.chr4:4228274_4228282delCCACAGCAG	ENST00000296358.4	-	1	334_342	c.310_318delCTGCTGTGG	c.(310-318)ctgctgtggdel	p.LLW104del		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	104					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.L104_W106delLLW(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACCACAGCATCCACAGCAGCTGCAGCAGC	0.727																																						ENST00000296358.4																			1	Deletion - In frame(1)	p.L104_W106delLLW(1)	upper_aerodigestive_tract(1)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(310-318)del		otopetrin 1																																				SO:0001651	inframe_deletion	133060				biomineral tissue development	extracellular space|integral to membrane		g.chr4:4228274_4228282delCCACAGCAG	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.310_318delCTGCTGTGG	4.37:g.4228274_4228282delCCACAGCAG	ENSP00000296358:p.Leu104_Trp106del						p.LLW104del	NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	1	334_342	-			104					A1L476	In_Frame_Del	DEL	ENST00000296358.4	37	c.310_318delCTGCTGTGG	CCDS3372.1																																																																																				0.727	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		7	17						7	17	---	---	---	---
SUDS3P1	285647	broad.mit.edu	37	5	177398373	177398396	+	RNA	DEL	AGGACGAAGAGCTGGAGAGCGCCA	AGGACGAAGAGCTGGAGAGCGCCA	-	rs548039666|rs70994948|rs71585660|rs568597025|rs535774316	byFrequency	TCGA-S7-A7WO-01A-11D-A35I-08	TCGA-S7-A7WO-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	751155ce-fde0-4b45-95ed-cdc7ff67e7e7	6b372fa4-36b7-4afc-a858-6e48fbea228c	g.chr5:177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA	ENST00000511650.1	+	0	145																											GTCCCCGGGGAGGACGAAGAGCTGGAGAGCGCCAAGGACGACGA	0.683														1220	0.24361	0.2678	0.3372	5008	,	,		15351	0.1548		0.2674	False		,,,				2504	0.2117					ENST00000511650.1																			0																																																			285647							g.chr5:177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA																													5.37:g.177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA														0	145	+									RNA	DEL	ENST00000511650.1	37																																																																																						0.683	RP11-1252I4.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000373553.1			2	4						2	4	---	---	---	---
