#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
EPHB2	2048	broad.mit.edu	37	1	23111211	23111211	+	Silent	SNP	C	C	T			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr1:23111211C>T	ENST00000400191.3	+	3	471	c.453C>T	c.(451-453)gaC>gaT	p.D151D	EPHB2_ENST00000374630.3_Silent_p.D151D|EPHB2_ENST00000374632.3_Silent_p.D151D|EPHB2_ENST00000374627.1_Silent_p.D145D|EPHB2_ENST00000544305.1_Silent_p.D151D	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	151	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CCCAGGTGGACCTGGGTGGCC	0.597																																						ENST00000400191.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56						c.(451-453)gaC>gaT		EPH receptor B2							42.0	42.0	42.0					1																	23111211		2203	4300	6503	SO:0001819	synonymous_variant	2048				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	g.chr1:23111211C>T	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.453C>T	1.37:g.23111211C>T			Somatic				EPHB2_ENST00000544305.1_Silent_p.D151D|EPHB2_ENST00000374632.3_Silent_p.D151D|EPHB2_ENST00000374627.1_Silent_p.D145D|EPHB2_ENST00000374630.3_Silent_p.D151D	p.D151D	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	WXS	Illumina GAIIx	Phase_I	P29323	EPHB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)	3	471	+		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)	151					O43477|Q5T0U6|Q5T0U7|Q5T0U8	Silent	SNP	ENST00000400191.3	37	c.453C>T																																																																																					0.597	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449		12	11	12	11	---	---	---	---
RPRD2	23248	broad.mit.edu	37	1	150444279	150444279	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr1:150444279C>G	ENST00000369068.4	+	11	2859	c.2855C>G	c.(2854-2856)aCt>aGt	p.T952S	RPRD2_ENST00000401000.4_Missense_Mutation_p.T926S|RPRD2_ENST00000539519.1_Intron|RPRD2_ENST00000492220.1_3'UTR	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	952						DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CAATCTACCACTGGGCATCTC	0.527																																						ENST00000401000.4																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(2776-2778)aCt>aGt		regulation of nuclear pre-mRNA domain containing 2							295.0	304.0	301.0					1																	150444279		2088	4224	6312	SO:0001583	missense	23248						protein binding	g.chr1:150444279C>G	BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"""KIAA0460"""	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.2855C>G	1.37:g.150444279C>G	ENSP00000358064:p.Thr952Ser		Somatic				RPRD2_ENST00000369068.4_Missense_Mutation_p.T952S|RPRD2_ENST00000539519.1_Intron|RPRD2_ENST00000492220.1_3'UTR	p.T926S			WXS	Illumina GAIIx	Phase_I	Q5VT52	RPRD2_HUMAN			10	2842	+			952			Ser-rich.		A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	ENST00000369068.4	37	c.2777C>G	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	C	9.582	1.123953	0.20959	.	.	ENSG00000163125	ENST00000401000;ENST00000369068	T;T	0.43688	0.94;0.94	5.21	5.21	0.72293	.	0.337928	0.28748	N	0.014276	T	0.11410	0.0278	N	0.08118	0	0.80722	D	1	B;B	0.15473	0.008;0.013	B;B	0.19391	0.011;0.025	T	0.06935	-1.0799	10	0.39692	T	0.17	-2.2775	8.4329	0.32769	0.0:0.7548:0.1585:0.0868	.	952;926	Q5VT52;Q5VT52-3	RPRD2_HUMAN;.	S	926;952	ENSP00000383785:T926S;ENSP00000358064:T952S	ENSP00000358064:T952S	T	+	2	0	RPRD2	148710903	0.927000	0.31430	1.000000	0.80357	0.996000	0.88848	1.493000	0.35605	2.699000	0.92147	0.650000	0.86243	ACT		0.527	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		128	134	128	134	---	---	---	---
GPR125	166647	broad.mit.edu	37	4	22389479	22389479	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr4:22389479A>G	ENST00000334304.5	-	19	4084	c.3815T>C	c.(3814-3816)gTt>gCt	p.V1272A	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1272					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TTCAAGTTCAACCACAGCTGG	0.438																																						ENST00000334304.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56						c.(3814-3816)gTt>gCt		G protein-coupled receptor 125							98.0	96.0	97.0					4																	22389479		2203	4300	6503	SO:0001583	missense	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22389479A>G	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.3815T>C	4.37:g.22389479A>G	ENSP00000334952:p.Val1272Ala		Somatic				GPR125_ENST00000282943.5_5'UTR	p.V1272A	NM_145290.3	NP_660333.2	WXS	Illumina GAIIx	Phase_I	Q8IWK6	GP125_HUMAN			19	4084	-		Breast(46;0.198)	1272					Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	37	c.3815T>C	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	A	8.424	0.846971	0.17034	.	.	ENSG00000152990	ENST00000334304	T	0.51817	0.69	6.17	-0.446	0.12238	.	0.609665	0.17896	N	0.158370	T	0.28234	0.0697	L	0.36672	1.1	0.18873	N	0.999988	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.12319	-1.0552	10	0.22109	T	0.4	-9.2449	3.0639	0.06209	0.4814:0.1071:0.3081:0.1035	.	1129;1272	Q8IWK6-3;Q8IWK6	.;GP125_HUMAN	A	1272	ENSP00000334952:V1272A	ENSP00000334952:V1272A	V	-	2	0	GPR125	21998577	0.341000	0.24801	0.001000	0.08648	0.880000	0.50808	1.786000	0.38694	-0.251000	0.09542	-0.290000	0.09829	GTT		0.438	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			14	21	14	21	---	---	---	---
PDE10A	10846	broad.mit.edu	37	6	165829699	165829699	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr6:165829699A>T	ENST00000366882.1	-	13	1193	c.1039T>A	c.(1039-1041)Tat>Aat	p.Y347N	PDE10A_ENST00000354448.4_Missense_Mutation_p.Y347N|PDE10A_ENST00000539869.2_Missense_Mutation_p.Y357N			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	347	GAF 2.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	GGGTCTGCATAGGCATCTGGA	0.448																																					Esophageal Squamous(22;308 615 5753 12038 40624)	ENST00000366882.1																			0				breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(1039-1041)Tat>Aat		phosphodiesterase 10A	Dipyridamole(DB00975)						268.0	237.0	248.0					6																	165829699		2203	4300	6503	SO:0001583	missense	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165829699A>T	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.1039T>A	6.37:g.165829699A>T	ENSP00000355847:p.Tyr347Asn		Somatic				PDE10A_ENST00000539869.2_Missense_Mutation_p.Y357N|PDE10A_ENST00000354448.4_Missense_Mutation_p.Y347N	p.Y347N			WXS	Illumina GAIIx	Phase_I	Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	13	1193	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	347			GAF 2.		Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37	c.1039T>A		.	.	.	.	.	.	.	.	.	.	A	22.1	4.243833	0.79912	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.67523	-0.27;-0.27	5.2	5.2	0.72013	GAF (2);	0.000000	0.85682	D	0.000000	D	0.83234	0.5210	M	0.93939	3.475	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.998;0.999	D	0.86957	0.2089	10	0.51188	T	0.08	.	15.0842	0.72138	1.0:0.0:0.0:0.0	.	357;347	Q9ULW9;Q9Y233	.;PDE10_HUMAN	N	347;375;357;347;346	ENSP00000355847:Y347N;ENSP00000346435:Y347N	ENSP00000341187:Y357N	Y	-	1	0	PDE10A	165749689	1.000000	0.71417	0.998000	0.56505	0.740000	0.42216	8.999000	0.93557	1.968000	0.57251	0.459000	0.35465	TAT		0.448	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			48	66	48	66	---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48318265	48318265	+	Silent	SNP	C	C	T			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr7:48318265C>T	ENST00000435803.1	+	18	7498	c.7474C>T	c.(7474-7476)Ctg>Ttg	p.L2492L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2492					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AAGTCACGTCCTGAAACCCCT	0.398																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(7474-7476)Ctg>Ttg		ATP-binding cassette, sub-family A (ABC1), member 13							176.0	176.0	176.0					7																	48318265		1842	4089	5931	SO:0001819	synonymous_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48318265C>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.7474C>T	7.37:g.48318265C>T			Somatic					p.L2492L	NM_152701.3	NP_689914.2	WXS	Illumina GAIIx	Phase_I	Q86UQ4	ABCAD_HUMAN			18	7498	+			2492					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	c.7474C>T	CCDS47584.1																																																																																				0.398	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		6	205	6	205	---	---	---	---
ZNF398	57541	broad.mit.edu	37	7	148851149	148851149	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr7:148851149T>C	ENST00000475153.1	+	2	404	c.137T>C	c.(136-138)gTg>gCg	p.V46A	ZNF398_ENST00000540950.1_Missense_Mutation_p.V51A|ZNF398_ENST00000420008.2_5'UTR|ZNF398_ENST00000491174.1_5'UTR|ZNF398_ENST00000483892.1_5'UTR|ZNF398_ENST00000335901.4_5'UTR|ZNF398_ENST00000426851.2_5'UTR|ZNF398_ENST00000485111.1_3'UTR			Q8TD17	ZN398_HUMAN	zinc finger protein 398	46					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			CTGTGGACAGTGGTGGCCGCC	0.592																																						ENST00000475153.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25						c.(136-138)gTg>gCg		zinc finger protein 398							61.0	62.0	62.0					7																	148851149		2203	4300	6503	SO:0001583	missense	57541				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148851149T>C	AB037760	CCDS5894.1, CCDS47739.1	7q35	2013-01-08			ENSG00000197024	ENSG00000197024		"""Zinc fingers, C2H2-type"", ""-"""	18373	protein-coding gene	gene with protein product						11779858	Standard	NM_170686		Approved	ZER6, KIAA1339, P51, P71	uc003wfl.3	Q8TD17	OTTHUMG00000158970	ENST00000475153.1:c.137T>C	7.37:g.148851149T>C	ENSP00000420418:p.Val46Ala		Somatic				ZNF398_ENST00000420008.2_5'UTR|ZNF398_ENST00000483892.1_5'UTR|ZNF398_ENST00000335901.4_5'UTR|ZNF398_ENST00000426851.2_5'UTR|ZNF398_ENST00000540950.1_Missense_Mutation_p.V51A|ZNF398_ENST00000491174.1_5'UTR|ZNF398_ENST00000485111.1_3'UTR	p.V46A			WXS	Illumina GAIIx	Phase_I	Q8TD17	ZN398_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00143)		2	404	+	Melanoma(164;0.15)		46					A8K384|B4E377|Q8TD18|Q9P2K7|Q9UDV8	Missense_Mutation	SNP	ENST00000475153.1	37	c.137T>C	CCDS5894.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.077567	0.76528	.	.	ENSG00000197024	ENST00000475153;ENST00000540950	T;T	0.22134	1.97;1.97	5.33	5.33	0.75918	.	0.000000	0.44097	D	0.000490	T	0.40196	0.1107	L	0.55990	1.75	0.80722	D	1	D;D	0.71674	0.992;0.998	D;D	0.77004	0.989;0.953	T	0.23261	-1.0193	10	0.87932	D	0	-19.2771	11.7209	0.51680	0.0:0.0:0.0:1.0	.	51;46	B4DXA9;Q8TD17	.;ZN398_HUMAN	A	46;51	ENSP00000420418:V46A;ENSP00000439340:V51A	ENSP00000420418:V46A	V	+	2	0	ZNF398	148482082	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	3.076000	0.50081	2.017000	0.59298	0.533000	0.62120	GTG		0.592	ZNF398-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352722.2			37	23	37	23	---	---	---	---
PNOC	5368	broad.mit.edu	37	8	28186778	28186778	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr8:28186778C>A	ENST00000301908.3	+	2	312	c.104C>A	c.(103-105)gCc>gAc	p.A35D	RP11-380I10.4_ENST00000521731.1_RNA	NM_006228.3	NP_006219.1	Q13519	PNOC_HUMAN	prepronociceptin	35					neuropeptide signaling pathway (GO:0007218)|sensory perception (GO:0007600)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5		Ovarian(32;0.000953)		KIRC - Kidney renal clear cell carcinoma(542;0.104)|Kidney(114;0.125)|Colorectal(74;0.145)|BRCA - Breast invasive adenocarcinoma(99;0.245)		CTCCACCCAGCCCTGGACAGC	0.577																																						ENST00000301908.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5						c.(103-105)gCc>gAc		prepronociceptin							119.0	99.0	106.0					8																	28186778		2203	4300	6503	SO:0001583	missense	5368				neuropeptide signaling pathway|sensory perception|synaptic transmission	extracellular region	neuropeptide hormone activity|opioid peptide activity	g.chr8:28186778C>A		CCDS6066.1, CCDS64862.1	8p21	2013-02-26			ENSG00000168081	ENSG00000168081		"""Endogenous ligands"""	9163	protein-coding gene	gene with protein product	"""nocistatin"""	601459				8710928, 10101606	Standard	XM_005273532		Approved	PPNOC	uc003xgp.3	Q13519	OTTHUMG00000102125	ENST00000301908.3:c.104C>A	8.37:g.28186778C>A	ENSP00000301908:p.Ala35Asp		Somatic				RP11-380I10.4_ENST00000521731.1_RNA	p.A35D	NM_006228.3	NP_006219.1	WXS	Illumina GAIIx	Phase_I	Q13519	PNOC_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.104)|Kidney(114;0.125)|Colorectal(74;0.145)|BRCA - Breast invasive adenocarcinoma(99;0.245)	2	312	+		Ovarian(32;0.000953)	35					B7Z749|Q6FH16	Missense_Mutation	SNP	ENST00000301908.3	37	c.104C>A	CCDS6066.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.295029	0.23564	.	.	ENSG00000168081	ENST00000518479;ENST00000301908	T;T	0.77620	0.91;-1.11	4.57	3.68	0.42216	.	0.880668	0.10043	N	0.723236	T	0.74145	0.3678	L	0.44542	1.39	0.24566	N	0.993947	P	0.42456	0.78	P	0.45610	0.487	T	0.65286	-0.6205	10	0.62326	D	0.03	-3.3012	7.8444	0.29417	0.0:0.8896:0.0:0.1104	.	35	Q13519	PNOC_HUMAN	D	35	ENSP00000428059:A35D;ENSP00000301908:A35D	ENSP00000301908:A35D	A	+	2	0	PNOC	28242697	0.000000	0.05858	0.448000	0.26945	0.856000	0.48823	0.465000	0.22004	2.526000	0.85167	0.491000	0.48974	GCC		0.577	PNOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219964.2	NM_006228		3	23	3	23	---	---	---	---
PHF2	5253	broad.mit.edu	37	9	96420442	96420442	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr9:96420442G>C	ENST00000359246.4	+	10	1530	c.1163G>C	c.(1162-1164)gGg>gCg	p.G388A	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	388					liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		CACAAATCTGGGAAGCAGCTG	0.567																																						ENST00000359246.4																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(1162-1164)gGg>gCg		PHD finger protein 2							50.0	49.0	49.0					9																	96420442		2203	4300	6503	SO:0001583	missense	5253				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:96420442G>C	AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	8920	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1E"", ""centromere protein 35"""	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.1163G>C	9.37:g.96420442G>C	ENSP00000352185:p.Gly388Ala		Somatic				PHF2_ENST00000375376.4_Intron	p.G388A	NM_005392.3	NP_005383.3	WXS	Illumina GAIIx	Phase_I	O75151	PHF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)	10	1530	+		Myeloproliferative disorder(762;0.0255)	388					Q4VXG0|Q8N3K2|Q9Y6N4	Missense_Mutation	SNP	ENST00000359246.4	37	c.1163G>C	CCDS35069.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.790373	0.31685	.	.	ENSG00000197724	ENST00000359246	T	0.47528	0.84	4.51	4.51	0.55191	.	0.247697	0.41500	D	0.000879	T	0.43077	0.1231	M	0.65975	2.015	0.80722	D	1	P	0.40731	0.728	B	0.26416	0.069	T	0.55373	-0.8151	10	0.51188	T	0.08	-31.2114	17.3926	0.87436	0.0:0.0:1.0:0.0	.	388	O75151	PHF2_HUMAN	A	388	ENSP00000352185:G388A	ENSP00000352185:G388A	G	+	2	0	PHF2	95460263	1.000000	0.71417	1.000000	0.80357	0.490000	0.33462	3.882000	0.56160	2.299000	0.77371	0.491000	0.48974	GGG		0.567	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053162.1	NM_005392		19	19	19	19	---	---	---	---
NUTM2A	728118	broad.mit.edu	37	10	88988143	88988143	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr10:88988143G>A	ENST00000381707.2	+	2	889	c.506G>A	c.(505-507)gGg>gAg	p.G169E	NUTM2A_ENST00000381689.4_Missense_Mutation_p.G169E|NUTM2A-AS1_ENST00000451940.2_RNA	NM_001099338.1	NP_001092808.1	Q8IVF1	NTM2A_HUMAN	NUT family member 2A	169																	GTGACTGCAGGGGCTCCTCCA	0.687																																						ENST00000381689.4																			0											c.(505-507)gGg>gAg		NUT family member 2A							32.0	38.0	36.0					10																	88988143		1839	4066	5905	SO:0001583	missense	728118							g.chr10:88988143G>A		CCDS44452.1	10q23.2	2013-03-15	2013-03-14	2013-03-14	ENSG00000184923	ENSG00000184923			23438	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member A"""	FAM22A			Standard	NM_001099338		Approved		uc001kek.3	Q8IVF1	OTTHUMG00000018670	ENST00000381707.2:c.506G>A	10.37:g.88988143G>A	ENSP00000371126:p.Gly169Glu		Somatic				NUTM2A-AS1_ENST00000451940.2_RNA|NUTM2A_ENST00000381707.2_Missense_Mutation_p.G169E	p.G169E			WXS	Illumina GAIIx	Phase_I					2	837	+								A6NMX5|C9JDI1|Q5VZW1	Missense_Mutation	SNP	ENST00000381707.2	37	c.506G>A	CCDS44452.1	.	.	.	.	.	.	.	.	.	.	g	9.226	1.034575	0.19590	.	.	ENSG00000184923	ENST00000381689;ENST00000381707;ENST00000416901	T;T	0.25749	1.78;1.78	1.29	0.282	0.15692	Nuclear Testis  protein, N-terminal (1);	.	.	.	.	T	0.18257	0.0438	N	0.19112	0.55	0.09310	N	1	P	0.39920	0.695	P	0.45794	0.493	T	0.19451	-1.0305	9	0.33940	T	0.23	.	5.2738	0.15639	0.0:0.6282:0.3718:0.0	.	169	Q8IVF1	FA22A_HUMAN	E	169;169;96	ENSP00000371107:G169E;ENSP00000371126:G169E	ENSP00000371107:G169E	G	+	2	0	FAM22A	88978123	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.022000	0.12480	0.127000	0.18452	-1.013000	0.02462	GGG		0.687	NUTM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049198.2	NM_001099338		12	38	12	38	---	---	---	---
EXT2	2132	broad.mit.edu	37	11	44146380	44146380	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr11:44146380A>C	ENST00000343631.3	+	5	914	c.785A>C	c.(784-786)cAt>cCt	p.H262P	EXT2_ENST00000533608.1_Missense_Mutation_p.H262P|EXT2_ENST00000395673.3_Missense_Mutation_p.H295P|EXT2_ENST00000358681.4_Missense_Mutation_p.H262P			Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	262					carbohydrate metabolic process (GO:0005975)|cell differentiation (GO:0030154)|cellular polysaccharide biosynthetic process (GO:0033692)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm formation (GO:0001707)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						GTGGGTCTCCATCCTGAGTAC	0.473			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses																													ENST00000395673.3			yes	Rec		Multiple Exostoses Type 2	11	11p12-p11	2132	"""Mis, N, F, S"""	multiple exostoses type 2 gene			M		"""exostoses, osteosarcoma"""			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						c.(883-885)cAt>cCt		exostosin glycosyltransferase 2							77.0	66.0	69.0					11																	44146380		2203	4300	6503	SO:0001583	missense	2132	Hereditary Multiple Exostoses	Familial Cancer Database	HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity	g.chr11:44146380A>C		CCDS7908.1, CCDS53618.1, CCDS53619.1	11p12-p11	2014-09-17	2013-03-01		ENSG00000151348	ENSG00000151348	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3513	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608210	"""exostoses (multiple) 2"", ""exostosin 2"""			8162019, 9576285	Standard	NM_000401		Approved	SOTV	uc001mya.3	Q93063	OTTHUMG00000166498	ENST00000343631.3:c.785A>C	11.37:g.44146380A>C	ENSP00000342656:p.His262Pro		Somatic				EXT2_ENST00000343631.3_Missense_Mutation_p.H262P|EXT2_ENST00000533608.1_Missense_Mutation_p.H262P|EXT2_ENST00000358681.4_Missense_Mutation_p.H262P	p.H295P	NM_000401.3	NP_000392.3	WXS	Illumina GAIIx	Phase_I	Q93063	EXT2_HUMAN			5	940	+			262					B2R5Z6|C9JU51|J3KPT2|O15288	Missense_Mutation	SNP	ENST00000343631.3	37	c.884A>C	CCDS7908.1	.	.	.	.	.	.	.	.	.	.	A	15.72	2.917038	0.52546	.	.	ENSG00000151348	ENST00000533608;ENST00000358681;ENST00000395673;ENST00000343631	D;D;D;D	0.97620	-4.46;-4.46;-4.46;-4.46	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.97726	0.9254	L	0.55834	1.745	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;0.997;0.999;0.999	D;D;D;D;D	0.91635	0.999;0.972;0.953;0.972;0.972	D	0.97523	1.0074	10	0.33940	T	0.23	-16.8355	16.1699	0.81801	1.0:0.0:0.0:0.0	.	262;262;262;262;275	Q6NUL1;C9JU51;Q93063-2;Q93063;D3DR24	.;.;.;EXT2_HUMAN;.	P	262;262;295;262	ENSP00000431173:H262P;ENSP00000351509:H262P;ENSP00000379032:H295P;ENSP00000342656:H262P	ENSP00000342656:H262P	H	+	2	0	EXT2	44102956	1.000000	0.71417	0.913000	0.36048	0.757000	0.42996	8.733000	0.91539	2.217000	0.71921	0.533000	0.62120	CAT		0.473	EXT2-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390074.1	NM_000401		14	2	14	2	---	---	---	---
C12orf10	60314	broad.mit.edu	37	12	53693739	53693739	+	Splice_Site	SNP	T	T	C			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr12:53693739T>C	ENST00000267103.5	+	1	268		c.e1+2		C12orf10_ENST00000549488.1_5'Flank|RP11-680A11.5_ENST00000550263.1_RNA|C12orf10_ENST00000548632.1_Splice_Site	NM_021640.3	NP_067653	Q9HB07	MYG1_HUMAN	chromosome 12 open reading frame 10						locomotory exploration behavior (GO:0035641)|pigmentation (GO:0043473)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				cervix(1)|endometrium(3)|kidney(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	20						GAGTACCGGGTACGGTCCGCG	0.647											OREG0021864	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000267103.5																			0				cervix(1)|endometrium(3)|kidney(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	20						c.e1+2		chromosome 12 open reading frame 10							39.0	38.0	38.0					12																	53693739		2203	4300	6503	SO:0001630	splice_region_variant	60314							g.chr12:53693739T>C	AF289485	CCDS31810.1	12q13.13	2014-05-29			ENSG00000139637	ENSG00000139637			17590	protein-coding gene	gene with protein product	"""melanocyte related gene"", ""melanocyte proliferating gene 1"""	611366					Standard	NM_021640		Approved	MYG, MYG1, Gamm1	uc001scp.4	Q9HB07	OTTHUMG00000170030	ENST00000267103.5:c.216+2T>C	12.37:g.53693739T>C			Somatic	OREG0021864	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	994	C12orf10_ENST00000548632.1_Splice_Site|RP11-680A11.5_ENST00000550263.1_RNA		NM_021640.3	NP_067653	WXS	Illumina GAIIx	Phase_I	Q86UA3	Q86UA3_HUMAN			1	268	+									Splice_Site	SNP	ENST00000267103.5	37		CCDS31810.1	.	.	.	.	.	.	.	.	.	.	T	12.63	1.995654	0.35226	.	.	ENSG00000139637	ENST00000267103;ENST00000545214;ENST00000548632	.	.	.	4.23	4.23	0.50019	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5951	0.50968	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	C12orf10	51980006	1.000000	0.71417	0.893000	0.35052	0.227000	0.25037	4.899000	0.63245	1.933000	0.56026	0.402000	0.26972	.		0.647	C12orf10-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406906.1	NM_021640	Intron	13	15	13	15	---	---	---	---
TCTN2	79867	broad.mit.edu	37	12	124163788	124163788	+	Silent	SNP	T	T	G			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr12:124163788T>G	ENST00000303372.5	+	5	644	c.516T>G	c.(514-516)ccT>ccG	p.P172P	TCTN2_ENST00000426174.2_Silent_p.P171P	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	172	Cys-rich.				cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		GCCCTTGTCCTTGTAATTTAA	0.448																																						ENST00000303372.5																			0				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(514-516)ccT>ccG		tectonic family member 2							241.0	212.0	221.0					12																	124163788		2203	4300	6503	SO:0001819	synonymous_variant	79867				cilium assembly|smoothened signaling pathway	integral to membrane		g.chr12:124163788T>G	AK056924	CCDS9253.1, CCDS45007.1	12q24.31	2011-04-12	2007-08-20	2007-08-20	ENSG00000168778	ENSG00000168778		"""Tectonic proteins"""	25774	protein-coding gene	gene with protein product	"""Meckel syndrome, type 8"""	613846	"""chromosome 12 open reading frame 38"""	C12orf38		21462283	Standard	NM_024809		Approved	FLJ12975, TECT2, MKS8	uc001ufp.3	Q96GX1	OTTHUMG00000168700	ENST00000303372.5:c.516T>G	12.37:g.124163788T>G			Somatic				TCTN2_ENST00000426174.2_Silent_p.P171P	p.P172P	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	WXS	Illumina GAIIx	Phase_I	Q96GX1	TECT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)	5	644	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		172			Cys-rich.		A8K7Y8|B3KPW5|Q9H966	Silent	SNP	ENST00000303372.5	37	c.516T>G	CCDS9253.1																																																																																				0.448	TCTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400652.1	NM_024809		39	4	39	4	---	---	---	---
ISM2	145501	broad.mit.edu	37	14	77950790	77950790	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr14:77950790G>A	ENST00000342219.4	-	3	559	c.503C>T	c.(502-504)gCa>gTa	p.A168V	ISM2_ENST00000412904.1_Intron|ISM2_ENST00000429906.1_Missense_Mutation_p.A87V|ISM2_ENST00000493585.1_Missense_Mutation_p.A168V|ISM2_ENST00000393684.3_Missense_Mutation_p.A80V	NM_199296.2	NP_954993.1	Q6H9L7	ISM2_HUMAN	isthmin 2	168						extracellular region (GO:0005576)				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						GGTCAGGGCTGCTGGCTCAGT	0.612																																						ENST00000393684.3																			0				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(238-240)gCa>gTa		isthmin 2							117.0	103.0	108.0					14																	77950790		2203	4300	6503	SO:0001583	missense	145501					extracellular region		g.chr14:77950790G>A	AK056709	CCDS9864.1, CCDS45143.1	14q24.3	2013-05-15	2013-05-15	2008-12-23	ENSG00000100593	ENSG00000100593			23176	protein-coding gene	gene with protein product	"""thrombospondin and AMOP containing isthmin-like 1"""	612684	"""thrombospondin, type I domain-containing 3"", ""thrombospondin, type I, domain containing 3"", ""isthmin 2 homolog (zebrafish)"""	THSD3		15194193	Standard	NM_199296		Approved	FLJ32147, TAIL1	uc001xtz.3	Q6H9L7	OTTHUMG00000158563	ENST00000342219.4:c.503C>T	14.37:g.77950790G>A	ENSP00000341490:p.Ala168Val		Somatic				ISM2_ENST00000493585.1_Missense_Mutation_p.A168V|ISM2_ENST00000342219.4_Missense_Mutation_p.A168V|ISM2_ENST00000412904.1_Intron|ISM2_ENST00000429906.1_Missense_Mutation_p.A87V	p.A80V			WXS	Illumina GAIIx	Phase_I	Q6H9L7	ISM2_HUMAN			4	630	-			168					A8K6D5|O95432|Q495U5|Q68CN3|Q86TQ7|Q86TW3|Q86TW4|Q8N501|Q8NBL0	Missense_Mutation	SNP	ENST00000342219.4	37	c.239C>T	CCDS9864.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.916518	0.52546	.	.	ENSG00000100593	ENST00000342219;ENST00000429906;ENST00000393684;ENST00000493585;ENST00000554801	T;T;T;T	0.38887	1.89;1.9;2.2;1.11	3.15	2.2	0.27929	.	1.515610	0.04088	U	0.310872	T	0.45657	0.1353	L	0.40543	1.245	0.09310	N	1	D;P	0.54207	0.965;0.889	P;B	0.52554	0.702;0.346	T	0.35325	-0.9793	10	0.48119	T	0.1	.	5.7838	0.18322	0.1136:0.0:0.6952:0.1912	.	168;168	Q6H9L7-2;Q6H9L7	.;ISM2_HUMAN	V	168;87;80;168;87	ENSP00000341490:A168V;ENSP00000395387:A87V;ENSP00000377289:A80V;ENSP00000420452:A168V	ENSP00000341490:A168V	A	-	2	0	ISM2	77020543	0.000000	0.05858	0.031000	0.17742	0.344000	0.29017	0.061000	0.14366	1.496000	0.48567	0.306000	0.20318	GCA		0.612	ISM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351309.1	NM_182509		28	39	28	39	---	---	---	---
BLM	641	broad.mit.edu	37	15	91346839	91346839	+	Silent	SNP	G	G	A			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr15:91346839G>A	ENST00000355112.3	+	18	3565	c.3447G>A	c.(3445-3447)ctG>ctA	p.L1149L	BLM_ENST00000560136.1_3'UTR|BLM_ENST00000560509.1_Intron	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	1149					alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			TTAAAAAGCTGATACTTGACA	0.378			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																													ENST00000355112.3			yes	Rec		Bloom Syndrome	15	15q26.1	641	"""Mis, N, F"""	Bloom Syndrome			"""L, E"""		"""leukemia, lymphoma, skin squamous cell , other cancers"""			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(3445-3447)ctG>ctA	Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome, RecQ helicase-like							92.0	92.0	92.0					15																	91346839		2198	4298	6496	SO:0001819	synonymous_variant	641	Bloom syndrome	Familial Cancer Database		double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding	g.chr15:91346839G>A	U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"""Bloom syndrome"""			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.3447G>A	15.37:g.91346839G>A			Somatic				BLM_ENST00000560509.1_Intron|BLM_ENST00000560136.1_3'UTR	p.L1149L	NM_000057.2	NP_000048.1	WXS	Illumina GAIIx	Phase_I	P54132	BLM_HUMAN	Lung(145;0.189)		18	3565	+	Lung NSC(78;0.0875)|all_lung(78;0.109)		1149					Q52M96	Silent	SNP	ENST00000355112.3	37	c.3447G>A	CCDS10363.1																																																																																				0.378	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1			21	71	21	71	---	---	---	---
SPOP	8405	broad.mit.edu	37	17	47696426	47696426	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr17:47696426A>C	ENST00000393328.2	-	6	762	c.397T>G	c.(397-399)Ttc>Gtc	p.F133V	SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000504102.1_Missense_Mutation_p.F133V|SPOP_ENST00000347630.2_Missense_Mutation_p.F133V|SPOP_ENST00000503676.1_Missense_Mutation_p.F133V|SPOP_ENST00000393331.3_Missense_Mutation_p.F133V	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.F133V(4)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						AATTTCTTGAATCCCCAGTCT	0.448										Prostate(2;0.17)																												ENST00000393331.3																			4	Substitution - Missense(4)	p.F133V(4)	prostate(4)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(397-399)Ttc>Gtc		speckle-type POZ protein							119.0	121.0	120.0					17																	47696426		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696426A>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.397T>G	17.37:g.47696426A>C	ENSP00000377001:p.Phe133Val	Prostate(2;0.17)	Somatic				SPOP_ENST00000504102.1_Missense_Mutation_p.F133V|SPOP_ENST00000393328.2_Missense_Mutation_p.F133V|SPOP_ENST00000347630.2_Missense_Mutation_p.F133V|SPOP_ENST00000503676.1_Missense_Mutation_p.F133V	p.F133V	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	WXS	Illumina GAIIx	Phase_I	O43791	SPOP_HUMAN			7	867	-			133			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.397T>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.550963	0.86127	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.68632	0.3022	M	0.94021	3.485	0.80722	D	1	P	0.35155	0.487	P	0.49637	0.617	T	0.74861	-0.3520	10	0.66056	D	0.02	-9.6576	15.258	0.73599	1.0:0.0:0.0:0.0	.	133	O43791	SPOP_HUMAN	V	133;133;133;133;17;133;86;133;133;133;133	ENSP00000377001:F133V;ENSP00000377004:F133V;ENSP00000240327:F133V;ENSP00000425905:F133V;ENSP00000420908:F133V;ENSP00000426986:F133V;ENSP00000420960:F133V;ENSP00000426262:F133V;ENSP00000424119:F133V	ENSP00000240327:F133V	F	-	1	0	SPOP	45051425	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.131000	0.94446	2.261000	0.74972	0.460000	0.39030	TTC		0.448	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		39	62	39	62	---	---	---	---
CACNA1A	773	broad.mit.edu	37	19	13323529	13323529	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr19:13323529C>T	ENST00000360228.5	-	41	5965	c.5966G>A	c.(5965-5967)cGc>cAc	p.R1989H	CACNA1A_ENST00000573710.2_Missense_Mutation_p.R1990H	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1990					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GGGCTCCATGCGCTGGAACAT	0.667																																						ENST00000360228.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(5965-5967)cGc>cAc		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						13.0	15.0	14.0					19																	13323529		2081	4181	6262	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13323529C>T	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.5966G>A	19.37:g.13323529C>T	ENSP00000353362:p.Arg1989His		Somatic				CACNA1A_ENST00000573710.2_Missense_Mutation_p.R1990H	p.R1989H	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	WXS	Illumina GAIIx	Phase_I	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		41	5965	-			1990					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.5966G>A	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.521884	0.27211	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.96300	-3.97	4.54	3.47	0.39725	.	0.664726	0.13205	N	0.405623	D	0.97424	0.9157	M	0.66939	2.045	0.52501	D	0.999957	D;D;D;D	0.89917	1.0;0.999;0.998;0.999	D;D;P;D	0.71870	0.962;0.975;0.818;0.943	D	0.95940	0.8946	10	0.62326	D	0.03	.	12.6205	0.56600	0.1676:0.8324:0.0:0.0	.	1990;1995;1989;1990	O00555;E9PD31;Q9NS88;E7EVF2	CAC1A_HUMAN;.;.;.	H	1989;1995;1990;1990	ENSP00000353362:R1989H	ENSP00000317661:R1990H	R	-	2	0	CACNA1A	13184529	1.000000	0.71417	1.000000	0.80357	0.007000	0.05969	7.276000	0.78559	0.879000	0.35944	-0.500000	0.04577	CGC		0.667	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		8	4	8	4	---	---	---	---
ZNF230	7773	broad.mit.edu	37	19	44515050	44515050	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr19:44515050A>G	ENST00000429154.2	+	5	1087	c.859A>G	c.(859-861)Aag>Gag	p.K287E		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	287					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				AATATGTGGTAAGAGCTTCTG	0.433																																					GBM(175;914 2069 22996 47111 52600)	ENST00000429154.2																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22						c.(859-861)Aag>Gag		zinc finger protein 230							139.0	141.0	141.0					19																	44515050		2203	4300	6503	SO:0001583	missense	7773				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44515050A>G	U95044	CCDS33044.1	19q13.31	2013-01-08				ENSG00000159882		"""Zinc fingers, C2H2-type"", ""-"""	13024	protein-coding gene	gene with protein product							Standard	NM_006300		Approved	FDZF2	uc002oyb.1	Q9UIE0		ENST00000429154.2:c.859A>G	19.37:g.44515050A>G	ENSP00000409318:p.Lys287Glu		Somatic					p.K287E	NM_006300.3	NP_006291.2	WXS	Illumina GAIIx	Phase_I	Q9UIE0	ZN230_HUMAN			5	1087	+		Prostate(69;0.0352)	287					O15322|Q504X7|Q86W84|Q9P1U6	Missense_Mutation	SNP	ENST00000429154.2	37	c.859A>G	CCDS33044.1	.	.	.	.	.	.	.	.	.	.	A	15.36	2.811174	0.50527	.	.	ENSG00000159882	ENST00000429154	T	0.27104	1.69	2.55	2.55	0.30701	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35219	0.0924	M	0.72118	2.19	0.80722	D	1	P	0.43519	0.809	P	0.48304	0.573	T	0.27331	-1.0077	9	0.87932	D	0	.	9.6854	0.40096	1.0:0.0:0.0:0.0	.	287	Q9UIE0	ZN230_HUMAN	E	287	ENSP00000409318:K287E	ENSP00000409318:K287E	K	+	1	0	ZNF230	49206890	0.129000	0.22400	0.029000	0.17559	0.463000	0.32649	0.856000	0.27818	1.149000	0.42402	0.172000	0.16884	AAG		0.433	ZNF230-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460456.1			54	63	54	63	---	---	---	---
CDH22	64405	broad.mit.edu	37	20	44869670	44869670	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr20:44869670A>C	ENST00000372262.3	-	2	882	c.482T>G	c.(481-483)aTc>aGc	p.I161S	CDH22_ENST00000537909.1_Missense_Mutation_p.I161S	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	161	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				ACTGTCATTGATGTCCTGCAC	0.642																																						ENST00000372262.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44						c.(481-483)aTc>aGc		cadherin 22, type 2							80.0	60.0	67.0					20																	44869670		2203	4300	6503	SO:0001583	missense	64405				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:44869670A>C	AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"""Cadherins / Major cadherins"""	13251	protein-coding gene	gene with protein product		609920	"""cadherin-like 22"""	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.482T>G	20.37:g.44869670A>C	ENSP00000361336:p.Ile161Ser		Somatic				CDH22_ENST00000537909.1_Missense_Mutation_p.I161S	p.I161S	NM_021248.1	NP_067071.1	WXS	Illumina GAIIx	Phase_I	Q9UJ99	CAD22_HUMAN			2	882	-		Myeloproliferative disorder(115;0.0122)	161			Cadherin 1.		B9EGK7|O43205	Missense_Mutation	SNP	ENST00000372262.3	37	c.482T>G	CCDS13395.1	.	.	.	.	.	.	.	.	.	.	A	18.43	3.621278	0.66787	.	.	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.67345	-0.26;-0.26	4.43	4.43	0.53597	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.82939	0.5146	M	0.87971	2.92	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	D	0.86258	0.1653	10	0.87932	D	0	.	13.3354	0.60515	1.0:0.0:0.0:0.0	.	161	Q9UJ99	CAD22_HUMAN	S	161	ENSP00000361336:I161S;ENSP00000437790:I161S	ENSP00000361336:I161S	I	-	2	0	CDH22	44303077	1.000000	0.71417	1.000000	0.80357	0.539000	0.34962	8.761000	0.91691	2.007000	0.58848	0.379000	0.24179	ATC		0.642	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248		14	74	14	74	---	---	---	---
MTG2	26164	broad.mit.edu	37	20	60775813	60775813	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr20:60775813G>A	ENST00000370823.3	+	7	919	c.901G>A	c.(901-903)Gag>Aag	p.E301K	MTG2_ENST00000436421.2_Missense_Mutation_p.E143K|MTG2_ENST00000536470.1_Missense_Mutation_p.E73K	NM_015666.3	NP_056481.1	Q9H4K7	MTG2_HUMAN	mitochondrial ribosome-associated GTPase 2	301	Localized in the mitochondria.|Not localized in the mitochondria.|OBG-type G.				GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)										CAGGCACATCGAGCGCTGCCG	0.567																																						ENST00000370823.3																			0											c.(901-903)Gag>Aag		mitochondrial ribosome-associated GTPase 2							120.0	129.0	126.0					20																	60775813		2203	4300	6503	SO:0001583	missense	26164							g.chr20:60775813G>A	AK001603	CCDS13492.1	20q13.33	2013-05-24	2013-05-24	2013-05-24	ENSG00000101181	ENSG00000101181			16239	protein-coding gene	gene with protein product		610919	"""GTP-binding protein 5 (putative)"", ""GTP binding protein 5 (putative)"""	GTPBP5		17054726, 23396448	Standard	NM_015666		Approved	FLJ10741, dJ1005F21.2, ObgH1		Q9H4K7	OTTHUMG00000032897	ENST00000370823.3:c.901G>A	20.37:g.60775813G>A	ENSP00000359859:p.Glu301Lys		Somatic				MTG2_ENST00000536470.1_Missense_Mutation_p.E73K|MTG2_ENST00000436421.2_Missense_Mutation_p.E143K	p.E301K	NM_015666.3	NP_056481.1	WXS	Illumina GAIIx	Phase_I					7	919	+								A6NDR3|B4DR85|Q96I17|Q9NVG9|Q9UFR4	Missense_Mutation	SNP	ENST00000370823.3	37	c.901G>A	CCDS13492.1	.	.	.	.	.	.	.	.	.	.	G	34	5.326814	0.95708	.	.	ENSG00000101181	ENST00000536470;ENST00000436421;ENST00000370823	T;T;T	0.18657	2.2;2.2;2.2	5.67	4.7	0.59300	Small GTP-binding protein domain (1);GTP1/OBG (1);GTP-binding domain, HSR1-related (1);	0.045089	0.85682	D	0.000000	T	0.49745	0.1575	M	0.82056	2.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.57751	-0.7757	10	0.72032	D	0.01	-45.4164	16.4321	0.83853	0.0:0.1316:0.8684:0.0	.	143;301	E7EU10;Q9H4K7	.;GTPB5_HUMAN	K	73;143;301	ENSP00000445056:E73K;ENSP00000392267:E143K;ENSP00000359859:E301K	ENSP00000359859:E301K	E	+	1	0	GTPBP5	60209208	1.000000	0.71417	0.988000	0.46212	0.828000	0.46876	5.983000	0.70540	1.352000	0.45808	0.561000	0.74099	GAG		0.567	MTG2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079989.1	NM_015666		119	195	119	195	---	---	---	---
TLR8	51311	broad.mit.edu	37	X	12939904	12939904	+	Silent	SNP	T	T	G			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chrX:12939904T>G	ENST00000218032.6	+	2	2832	c.2745T>G	c.(2743-2745)ctT>ctG	p.L915L	TLR8_ENST00000311912.5_Silent_p.L933L	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	915	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	ACGTTCTCCTTTGTCTAGAGG	0.443																																						ENST00000218032.6																			0				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(2743-2745)ctT>ctG		toll-like receptor 8							89.0	91.0	90.0					X																	12939904		2202	4300	6502	SO:0001819	synonymous_variant	51311				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity	g.chrX:12939904T>G	AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.2745T>G	X.37:g.12939904T>G			Somatic				TLR8_ENST00000311912.5_Silent_p.L933L	p.L915L	NM_138636.4	NP_619542.1	WXS	Illumina GAIIx	Phase_I	Q9NR97	TLR8_HUMAN			2	2832	+			915			TIR.		B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Silent	SNP	ENST00000218032.6	37	c.2745T>G	CCDS14152.1																																																																																				0.443	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610		50	2	50	2	---	---	---	---
PASD1	139135	broad.mit.edu	37	X	150791530	150791530	+	Silent	SNP	C	C	T			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chrX:150791530C>T	ENST00000370357.4	+	7	785	c.540C>T	c.(538-540)ctC>ctT	p.L180L		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	180						nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					GGACTCAGCTCCTGCAGGTGG	0.527																																						ENST00000370357.4																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(538-540)ctC>ctT		PAS domain containing 1							193.0	144.0	161.0					X																	150791530		2203	4300	6503	SO:0001819	synonymous_variant	139135					nucleus	signal transducer activity	g.chrX:150791530C>T	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.540C>T	X.37:g.150791530C>T			Somatic					p.L180L	NM_173493.2	NP_775764.2	WXS	Illumina GAIIx	Phase_I	Q8IV76	PASD1_HUMAN			7	785	+	Acute lymphoblastic leukemia(192;6.56e-05)		180					Q3MNE0|Q69HD7|Q8N7X9	Silent	SNP	ENST00000370357.4	37	c.540C>T	CCDS35431.1																																																																																				0.527	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		5	47	5	47	---	---	---	---
FOXA1	3169	broad.mit.edu	37	14	38061200	38061202	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr14:38061200_38061202delCTG	ENST00000250448.2	-	2	848_850	c.787_789delCAG	c.(787-789)cagdel	p.Q263del	FOXA1_ENST00000540786.1_In_Frame_Del_p.Q230del|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	263					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		TGAAGCGCTTCTGGCGGCGCAAG	0.719																																						ENST00000250448.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(787-789)cagdel		forkhead box A1																																				SO:0001651	inframe_deletion	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061200_38061202delCTG	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.787_789delCAG	14.37:g.38061200_38061202delCTG	ENSP00000250448:p.Gln263del		Somatic				FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_In_Frame_Del_p.Q230del	p.Q263del	NM_004496.3	NP_004487.2	WXS	Illumina GAIIx	Phase_I	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	848_850	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		263					B2R9H6|B7ZAP5|Q9H2A0	In_Frame_Del	DEL	ENST00000250448.2	37	c.787_789delCAG	CCDS9665.1																																																																																				0.719	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			13	9	13	9	---	---	---	---
MAOA	4128	broad.mit.edu	37	X	43591988	43591988	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chrX:43591988delT	ENST00000338702.3	+	9	1121	c.998delT	c.(997-999)attfs	p.I333fs	MAOA_ENST00000542639.1_Frame_Shift_Del_p.I200fs	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN	monoamine oxidase A	333					cellular biogenic amine metabolic process (GO:0006576)|dopamine catabolic process (GO:0042420)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	primary amine oxidase activity (GO:0008131)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Minaprine(DB00805)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Naratriptan(DB00952)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sertraline(DB01104)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)|Zonisamide(DB00909)	GATGCTCCAATTTCAATAACC	0.443																																						ENST00000338702.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18						c.(997-999)attfs		monoamine oxidase A	Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)						157.0	136.0	143.0					X																	43591988		2203	4300	6503	SO:0001589	frameshift_variant	4128				behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	primary amine oxidase activity|protein binding	g.chrX:43591988delT		CCDS14260.1, CCDS59163.1	Xp11.4-p11.3	2008-02-05			ENSG00000189221	ENSG00000189221	1.4.3.4		6833	protein-coding gene	gene with protein product		309850					Standard	NM_000240		Approved		uc004dfy.4	P21397	OTTHUMG00000021387	ENST00000338702.3:c.998delT	X.37:g.43591988delT	ENSP00000340684:p.Ile333fs		Somatic				MAOA_ENST00000542639.1_Frame_Shift_Del_p.I200fs	p.I333fs	NM_000240.3	NP_000231.1	WXS	Illumina GAIIx	Phase_I	P21397	AOFA_HUMAN			9	1121	+			333					B4DF46|Q16426	Frame_Shift_Del	DEL	ENST00000338702.3	37	c.998delT	CCDS14260.1																																																																																				0.443	MAOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056300.1	NM_000240		65	6	65	6	---	---	---	---
