#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
ZGPAT	84619	broad.mit.edu	37	20	62365008	62365008	+	Missense_Mutation	SNP	A	A	G			TCGA-VM-A8C9-01A-11D-A36O-08	TCGA-VM-A8C9-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47654d66-7743-498f-b2e3-872d9100560a	8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd	g.chr20:62365008A>G	ENST00000328969.5	+	4	915	c.788A>G	c.(787-789)gAc>gGc	p.D263G	ZGPAT_ENST00000355969.6_Missense_Mutation_p.D263G|ZGPAT_ENST00000478385.1_3'UTR|ZGPAT_ENST00000357119.4_Missense_Mutation_p.D263G|LIME1_ENST00000309546.3_5'Flank|ZGPAT_ENST00000369967.3_Missense_Mutation_p.D263G|ZGPAT_ENST00000448100.2_Missense_Mutation_p.D263G|RP4-583P15.15_ENST00000490623.2_Missense_Mutation_p.T169A	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	263					negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					GTGGAGGGGGACGGCATCCTG	0.617																																						ENST00000328969.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14						c.(787-789)gAc>gGc		zinc finger, CCCH-type with G patch domain							135.0	130.0	132.0					20																	62365008		2203	4300	6503	SO:0001583	missense	84619				negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62365008A>G	AK027878	CCDS13534.1, CCDS13535.1, CCDS56203.1	20q13.3	2013-01-28	2004-12-01	2004-12-01	ENSG00000197114	ENSG00000197114		"""Zinc fingers, CCCH-type domain containing"", ""G patch domain containing"""	15948	protein-coding gene	gene with protein product			"""KIAA1847"""	KIAA1847		16952911	Standard	NM_181485		Approved	dJ583P15.3, MGC44880, FLJ14972, ZC3HDC9, ZC3H9, GPATC6, GPATCH6, ZIP	uc002ygk.3	Q8N5A5	OTTHUMG00000032998	ENST00000328969.5:c.788A>G	20.37:g.62365008A>G	ENSP00000332013:p.Asp263Gly					ZGPAT_ENST00000490623.1_3'UTR|ZGPAT_ENST00000369967.3_Missense_Mutation_p.D263G|ZGPAT_ENST00000357119.4_Missense_Mutation_p.D263G|ZGPAT_ENST00000355969.6_Missense_Mutation_p.D263G|ZGPAT_ENST00000448100.1_Missense_Mutation_p.D263G	p.D263G	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN			4	915	+	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)		263					E1P5K1|Q4VXN9|Q5JWI9|Q5JWJ0|Q8NC55|Q8WUV4|Q96JI0|Q96JU4|Q9H401	Missense_Mutation	SNP	ENST00000328969.5	37	c.788A>G	CCDS13534.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.453037	0.84209	.	.	ENSG00000197114	ENST00000448100;ENST00000355969;ENST00000357119;ENST00000369967;ENST00000328969	T;T;T;T;T	0.26373	1.81;1.81;1.76;1.81;1.74	5.65	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.48205	0.1487	M	0.75264	2.295	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.43196	-0.9406	10	0.46703	T	0.11	-9.7755	10.2993	0.43642	0.9251:0.0:0.0749:0.0	.	263;263;263	Q8N5A5-3;Q8N5A5;Q8N5A5-2	.;ZGPAT_HUMAN;.	G	263	ENSP00000391176:D263G;ENSP00000348242:D263G;ENSP00000349634:D263G;ENSP00000358984:D263G;ENSP00000332013:D263G	ENSP00000332013:D263G	D	+	2	0	ZGPAT	61835452	1.000000	0.71417	0.929000	0.37066	0.930000	0.56654	6.399000	0.73248	0.970000	0.38263	0.482000	0.46254	GAC		0.617	ZGPAT-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080214.1	NM_181484		4	174	0	0	0	1	0	4	174				
PARP9	83666	broad.mit.edu	37	3	122274172	122274172	+	Silent	SNP	C	C	T			TCGA-VM-A8C9-01A-11D-A36O-08	TCGA-VM-A8C9-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47654d66-7743-498f-b2e3-872d9100560a	8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd	g.chr3:122274172C>T	ENST00000360356.2	-	4	1178	c.951G>A	c.(949-951)ctG>ctA	p.L317L	PARP9_ENST00000471785.1_Silent_p.L282L|PARP9_ENST00000492382.1_Intron|PARP9_ENST00000477522.2_Silent_p.L282L|PARP9_ENST00000462315.1_Silent_p.L282L	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	317	Macro 2. {ECO:0000255|PROSITE- ProRule:PRU00490}.				cell migration (GO:0016477)|double-strand break repair (GO:0006302)|regulation of response to interferon-gamma (GO:0060330)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		TCTGGAGGGTCAGGTTGTTCA	0.453																																						ENST00000462315.1																			0				endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34						c.(844-846)ctG>ctA		poly (ADP-ribose) polymerase family, member 9							132.0	130.0	131.0					3																	122274172		2203	4300	6503	SO:0001819	synonymous_variant	83666				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr3:122274172C>T	AF307339	CCDS3014.1, CCDS54633.1, CCDS54634.1	3q13-q21	2010-02-16			ENSG00000138496	ENSG00000138496		"""Poly (ADP-ribose) polymerases"""	24118	protein-coding gene	gene with protein product		612065				11110709	Standard	NM_031458		Approved	BAL, BAL1	uc003efi.3	Q8IXQ6	OTTHUMG00000159522	ENST00000360356.2:c.951G>A	3.37:g.122274172C>T						PARP9_ENST00000477522.2_Silent_p.L282L|PARP9_ENST00000360356.2_Silent_p.L317L|PARP9_ENST00000471785.1_Silent_p.L282L|PARP9_ENST00000492382.1_Intron	p.L282L	NM_001146106.1	NP_001139578.1	Q8IXQ6	PARP9_HUMAN		GBM - Glioblastoma multiforme(114;0.0519)	4	1139	-			317			Macro 1.		A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Silent	SNP	ENST00000360356.2	37	c.846G>A	CCDS3014.1																																																																																				0.453	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355957.1	NM_031458		7	65	0	0	0	1	0	7	65				
SLC17A4	10050	broad.mit.edu	37	6	25776865	25776865	+	Missense_Mutation	SNP	T	T	A			TCGA-VM-A8C9-01A-11D-A36O-08	TCGA-VM-A8C9-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47654d66-7743-498f-b2e3-872d9100560a	8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd	g.chr6:25776865T>A	ENST00000377905.4	+	9	1149	c.1030T>A	c.(1030-1032)Tgc>Agc	p.C344S	SLC17A4_ENST00000397076.2_Missense_Mutation_p.C114S|SLC17A4_ENST00000439485.2_Missense_Mutation_p.C114S	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	344					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGGATGTATCTGCATTATCCT	0.507																																						ENST00000377905.4																			0				breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1030-1032)Tgc>Agc		solute carrier family 17, member 4							271.0	252.0	258.0					6																	25776865		2203	4300	6503	SO:0001583	missense	10050				phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	g.chr6:25776865T>A	AB020527	CCDS4564.1, CCDS75411.1	6p22.2	2013-07-18	2013-07-18		ENSG00000146039	ENSG00000146039		"""Solute carriers"""	10932	protein-coding gene	gene with protein product		604216	"""solute carrier family 17 (sodium phosphate), member 4"""			10319585	Standard	NM_005495		Approved	KIAA2138	uc003nfe.3	Q9Y2C5	OTTHUMG00000014410	ENST00000377905.4:c.1030T>A	6.37:g.25776865T>A	ENSP00000367137:p.Cys344Ser					SLC17A4_ENST00000397076.2_Missense_Mutation_p.C114S|SLC17A4_ENST00000439485.2_Missense_Mutation_p.C114S	p.C344S	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN			9	1149	+			344					B4DDV9|E7EPE8|E7EU17|Q32MB7|Q32MB8	Missense_Mutation	SNP	ENST00000377905.4	37	c.1030T>A	CCDS4564.1	.	.	.	.	.	.	.	.	.	.	T	15.85	2.954615	0.53293	.	.	ENSG00000146039	ENST00000377905;ENST00000439485;ENST00000397076	T;T;T	0.56776	0.44;0.55;0.44	5.63	1.11	0.20524	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.352612	0.24825	N	0.035286	T	0.19287	0.0463	L	0.31526	0.94	0.09310	N	1	B;B;B	0.27416	0.01;0.178;0.005	B;B;B	0.29862	0.015;0.108;0.01	T	0.18085	-1.0348	10	0.42905	T	0.14	.	8.8711	0.35316	0.5723:0.0:0.0:0.4277	.	114;114;344	E7EPE8;E7EU17;Q9Y2C5	.;.;S17A4_HUMAN	S	344;114;114	ENSP00000367137:C344S;ENSP00000391345:C114S;ENSP00000380266:C114S	ENSP00000367137:C344S	C	+	1	0	SLC17A4	25884844	0.000000	0.05858	0.020000	0.16555	0.995000	0.86356	-0.383000	0.07398	0.439000	0.26476	0.533000	0.62120	TGC		0.507	SLC17A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040068.1			4	76	0	0	0	1	0	4	76				
GFRAL	389400	broad.mit.edu	37	6	55216162	55216162	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8C9-01A-11D-A36O-08	TCGA-VM-A8C9-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47654d66-7743-498f-b2e3-872d9100560a	8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd	g.chr6:55216162C>T	ENST00000340465.2	+	5	568	c.482C>T	c.(481-483)cCg>cTg	p.P161L		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	161					negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|stress-activated protein kinase signaling cascade (GO:0031098)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AATGGAAATCCGTGTGATCTG	0.448																																						ENST00000340465.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48						c.(481-483)cCg>cTg		GDNF family receptor alpha like							267.0	239.0	249.0					6																	55216162		2203	4300	6503	SO:0001583	missense	389400					integral to membrane	receptor activity	g.chr6:55216162C>T	AY358198	CCDS4957.1	6p12.1	2007-06-22			ENSG00000187871	ENSG00000187871			32789	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 144"""	C6orf144		16086688	Standard	NM_207410		Approved	GRAL, UNQ9356, bA360D14.1	uc003pcm.1	Q6UXV0	OTTHUMG00000014900	ENST00000340465.2:c.482C>T	6.37:g.55216162C>T	ENSP00000343636:p.Pro161Leu						p.P161L	NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		5	568	+	Lung NSC(77;0.0875)|Renal(3;0.122)		161					Q5VTF6	Missense_Mutation	SNP	ENST00000340465.2	37	c.482C>T	CCDS4957.1	.	.	.	.	.	.	.	.	.	.	C	11.00	1.511127	0.27036	.	.	ENSG00000187871	ENST00000340465	T	0.62364	0.03	5.76	0.877	0.19145	GDNF/GAS1 (2);	0.575663	0.16620	N	0.206533	T	0.10121	0.0248	N	0.03608	-0.345	0.27178	N	0.960738	B	0.09022	0.002	B	0.04013	0.001	T	0.36065	-0.9763	10	0.06891	T	0.86	-5.8422	5.4105	0.16346	0.1529:0.3316:0.0:0.5155	.	161	Q6UXV0	GFRAL_HUMAN	L	161	ENSP00000343636:P161L	ENSP00000343636:P161L	P	+	2	0	GFRAL	55324121	0.987000	0.35691	0.979000	0.43373	0.991000	0.79684	0.494000	0.22467	0.206000	0.20587	0.655000	0.94253	CCG		0.448	GFRAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040995.2	NM_207410		7	144	0	0	0	1	0	7	144				
PIK3CA	5290	broad.mit.edu	37	3	178938891	178938891	+	Missense_Mutation	SNP	G	G	T			TCGA-VM-A8C9-01A-11D-A36O-08	TCGA-VM-A8C9-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47654d66-7743-498f-b2e3-872d9100560a	8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd	g.chr3:178938891G>T	ENST00000263967.3	+	14	2290	c.2133G>T	c.(2131-2133)aaG>aaT	p.K711N		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	711					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	CAATGGAAAAGCTCATTAACT	0.433		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		0				NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(2131-2133)aaG>aaT		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							90.0	80.0	83.0					3																	178938891		1910	4110	6020	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178938891G>T		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.2133G>T	3.37:g.178938891G>T	ENSP00000263967:p.Lys711Asn	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.K711N	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		14	2290	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		711					Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.2133G>T	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.661953	0.67700	.	.	ENSG00000121879	ENST00000263967	D	0.81499	-1.5	5.41	1.03	0.20045	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.87478	0.6187	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.85018	0.0910	10	0.49607	T	0.09	-16.9944	8.5998	0.33738	0.5159:0.0:0.4841:0.0	.	711	P42336	PK3CA_HUMAN	N	711	ENSP00000263967:K711N	ENSP00000263967:K711N	K	+	3	2	PIK3CA	180421585	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.500000	0.35682	0.271000	0.22005	-0.142000	0.14014	AAG		0.433	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			6	25	1	0	5.9392e-07	1	5.9392e-07	6	25				
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	lincRNA	SNP	C	C	G	rs199933143		TCGA-VM-A8C9-01A-11D-A36O-08	TCGA-VM-A8C9-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47654d66-7743-498f-b2e3-872d9100560a	8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd	g.chr1:142713773C>G	ENST00000610091.1	-	0	1885																											TCTTTTTCCACATTGTCATTT	0.284																																						ENST00000369381.2																			0																																																			0							g.chr1:142713773C>G																													1.37:g.142713773C>G														0	832	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			4	93	0	0	0	1	0	4	93				
A2ML1	144568	broad.mit.edu	37	12	9001419	9001419	+	Missense_Mutation	SNP	T	T	C	rs150488553		TCGA-VM-A8C9-01A-11D-A36O-08	TCGA-VM-A8C9-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47654d66-7743-498f-b2e3-872d9100560a	8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd	g.chr12:9001419T>C	ENST00000299698.7	+	16	2117	c.1937T>C	c.(1936-1938)aTt>aCt	p.I646T	A2ML1_ENST00000539547.1_Missense_Mutation_p.I155T	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CAGCCCCTCATTGACCCAATG	0.527													T|||	6	0.00119808	0.0038	0.0	5008	,	,		-128	0.0		0.001	False		,,,				2504	0.0					ENST00000299698.7																			0				NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						c.(1936-1938)aTt>aCt		alpha-2-macroglobulin-like 1		T	THR/ILE	18,3928		0,18,1955	188.0	175.0	179.0		1937	2.8	0.0	12	dbSNP_134	179	1,8299		0,1,4149	yes	missense	A2ML1	NM_144670.3	89	0,19,6104	CC,CT,TT		0.012,0.4562,0.1552	benign	646/1455	9001419	19,12227	1973	4150	6123	SO:0001583	missense	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:9001419T>C	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.1937T>C	12.37:g.9001419T>C	ENSP00000299698:p.Ile646Thr					A2ML1_ENST00000539547.1_Missense_Mutation_p.I155T	p.I646T	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN			16	2117	+			490						Missense_Mutation	SNP	ENST00000299698.7	37	c.1937T>C	CCDS8596.2	6	0.0027472527472527475	6	0.012195121951219513	0	0.0	0	0.0	0	0.0	T	6.706	0.498898	0.12762	0.004562	1.2E-4	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547;ENST00000545692	T;T;T;T	0.32753	1.44;1.56;2.11;1.5	2.84	2.84	0.33178	.	1.530910	0.04125	N	0.316964	T	0.15478	0.0373	N	0.22421	0.69	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.14811	-1.0459	10	0.16896	T	0.51	.	7.5658	0.27879	0.0:0.0:0.0:1.0	.	646	A8K2U0	A2ML1_HUMAN	T	646;646;196;155;158	ENSP00000299698:I646T;ENSP00000443174:I196T;ENSP00000438292:I155T;ENSP00000440057:I158T	ENSP00000299698:I646T	I	+	2	0	A2ML1	8892686	0.002000	0.14202	0.020000	0.16555	0.535000	0.34838	1.101000	0.31037	1.554000	0.49487	0.374000	0.22700	ATT		0.527	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		9	125	0	0	0	1	0	9	125				
PCDH10	57575	broad.mit.edu	37	4	134072440	134072440	+	Missense_Mutation	SNP	T	T	C			TCGA-VM-A8C9-01A-11D-A36O-08	TCGA-VM-A8C9-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47654d66-7743-498f-b2e3-872d9100560a	8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd	g.chr4:134072440T>C	ENST00000264360.5	+	1	1971	c.1145T>C	c.(1144-1146)gTg>gCg	p.V382A	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	382	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CTTTTCAGCGTGACTGACCGC	0.582																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(1144-1146)gTg>gCg		protocadherin 10							95.0	95.0	95.0					4																	134072440		2203	4300	6503	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134072440T>C	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1145T>C	4.37:g.134072440T>C	ENSP00000264360:p.Val382Ala						p.V382A	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	1971	+			382			Cadherin 4.		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.1145T>C	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	T	17.88	3.497135	0.64186	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.38077	1.16	4.68	4.68	0.58851	Cadherin (4);Cadherin-like (1);	0.000000	0.40818	N	0.001004	T	0.43299	0.1241	N	0.20401	0.57	0.80722	D	1	D;P	0.71674	0.998;0.944	D;P	0.81914	0.995;0.874	T	0.33854	-0.9852	10	0.35671	T	0.21	.	13.979	0.64291	0.0:0.0:0.0:1.0	.	382;382	Q9P2E7;Q96SF0	PCD10_HUMAN;.	A	382	ENSP00000264360:V382A	ENSP00000264360:V382A	V	+	2	0	PCDH10	134291890	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.134000	0.71689	1.963000	0.57068	0.459000	0.35465	GTG		0.582	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		5	85	0	0	0	1	0	5	85				
TBC1D3P2	440452	broad.mit.edu	37	17	60342186	60342186	+	RNA	SNP	T	T	C			TCGA-VM-A8C9-01A-11D-A36O-08	TCGA-VM-A8C9-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47654d66-7743-498f-b2e3-872d9100560a	8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd	g.chr17:60342186T>C	ENST00000581291.1	-	0	1967									TBC1 domain family, member 3 pseudogene 2											breast(2)|kidney(1)|lung(2)	5						GCTGGGGGTGTTGGGAGGGGC	0.498																																						ENST00000581291.1																			0				breast(2)|kidney(1)|lung(2)	5																																														0							g.chr17:60342186T>C			17q23.2	2009-05-14				ENSG00000188755			27783	pseudogene	pseudogene							Standard	NR_027486		Approved		uc002izq.2				17.37:g.60342186T>C														0	1967	-									RNA	SNP	ENST00000581291.1	37																																																																																						0.498	TBC1D3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445021.1	NR_027486		3	8	0	0	0	1	0	3	8				
SORT1	6272	broad.mit.edu	37	1	109878960	109878960	+	Missense_Mutation	SNP	T	T	C			TCGA-VM-A8C9-01A-11D-A36O-08	TCGA-VM-A8C9-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47654d66-7743-498f-b2e3-872d9100560a	8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd	g.chr1:109878960T>C	ENST00000256637.6	-	11	1331	c.1273A>G	c.(1273-1275)Atc>Gtc	p.I425V	SORT1_ENST00000538502.1_Missense_Mutation_p.I288V	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	425					endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|endosome transport via multivesicular body sorting pathway (GO:0032509)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose import (GO:0046323)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|negative regulation of lipoprotein lipase activity (GO:0051005)|nerve growth factor signaling pathway (GO:0038180)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|plasma membrane to endosome transport (GO:0048227)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|vesicle organization (GO:0016050)	cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	enzyme binding (GO:0019899)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotensin receptor activity, non-G-protein coupled (GO:0030379)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		ATGGTCTGGATAGAATTATCT	0.428																																						ENST00000256637.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26						c.(1273-1275)Atc>Gtc		sortilin 1							144.0	127.0	133.0					1																	109878960		2203	4300	6503	SO:0001583	missense	6272				endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled	g.chr1:109878960T>C	BC023542	CCDS798.1, CCDS55618.1	1p13.3	2008-05-14			ENSG00000134243	ENSG00000134243			11186	protein-coding gene	gene with protein product		602458					Standard	NM_002959		Approved	Gp95, NT3	uc001dxm.2	Q99523	OTTHUMG00000011999	ENST00000256637.6:c.1273A>G	1.37:g.109878960T>C	ENSP00000256637:p.Ile425Val					SORT1_ENST00000538502.1_Missense_Mutation_p.I288V	p.I425V	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)	11	1331	-		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	425					B4DWI3|C0JYZ0|Q8IZ49	Missense_Mutation	SNP	ENST00000256637.6	37	c.1273A>G	CCDS798.1	.	.	.	.	.	.	.	.	.	.	T	11.22	1.574243	0.28092	.	.	ENSG00000134243	ENST00000256637;ENST00000538502	T;T	0.26067	1.76;1.76	5.69	4.57	0.56435	VPS10 (1);	0.126603	0.53938	N	0.000052	T	0.04003	0.0112	N	0.11698	0.16	0.41978	D	0.990784	B;B	0.09022	0.0;0.002	B;B	0.12837	0.001;0.008	T	0.27157	-1.0082	10	0.05525	T	0.97	-9.2065	10.7519	0.46213	0.0:0.0758:0.0:0.9242	.	288;425	B4DWI3;Q99523	.;SORT_HUMAN	V	425;288	ENSP00000256637:I425V;ENSP00000438597:I288V	ENSP00000256637:I425V	I	-	1	0	SORT1	109680483	0.999000	0.42202	0.924000	0.36721	0.991000	0.79684	3.535000	0.53575	0.984000	0.38629	0.533000	0.62120	ATC		0.428	SORT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033179.1	NM_002959		5	31	0	0	0	1	0	5	31				
XPO4	64328	broad.mit.edu	37	13	21361632	21361632	+	Silent	SNP	C	C	T			TCGA-VM-A8C9-01A-11D-A36O-08	TCGA-VM-A8C9-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47654d66-7743-498f-b2e3-872d9100560a	8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd	g.chr13:21361632C>T	ENST00000255305.6	-	21	3224	c.3153G>A	c.(3151-3153)cgG>cgA	p.R1051R	XPO4_ENST00000400602.2_Silent_p.R1051R			Q9C0E2	XPO4_HUMAN	exportin 4	1051					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		TAAGAAAGTGCCGTGTTGCTA	0.458																																						ENST00000400602.2																			0				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41						c.(3151-3153)cgG>cgA		exportin 4							124.0	123.0	123.0					13																	21361632		1920	4139	6059	SO:0001819	synonymous_variant	64328				protein transport	cytoplasm|nucleus	protein binding	g.chr13:21361632C>T	AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"""Exportins"""	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.3153G>A	13.37:g.21361632C>T						XPO4_ENST00000255305.6_Silent_p.R1051R	p.R1051R	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)	21	3188	-		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	1051					Q5VUZ5|Q8N3V6|Q9H934	Silent	SNP	ENST00000255305.6	37	c.3153G>A	CCDS41872.1																																																																																				0.458	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1	NM_022459		3	57	0	0	0	1	0	3	57				
TBC1D3P2	440452	broad.mit.edu	37	17	60342197	60342197	+	RNA	SNP	T	T	C			TCGA-VM-A8C9-01A-11D-A36O-08	TCGA-VM-A8C9-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47654d66-7743-498f-b2e3-872d9100560a	8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd	g.chr17:60342197T>C	ENST00000581291.1	-	0	1956									TBC1 domain family, member 3 pseudogene 2											breast(2)|kidney(1)|lung(2)	5						TGGGAGGGGCTGGGCATGGTT	0.488																																						ENST00000581291.1																			0				breast(2)|kidney(1)|lung(2)	5																																														0							g.chr17:60342197T>C			17q23.2	2009-05-14				ENSG00000188755			27783	pseudogene	pseudogene							Standard	NR_027486		Approved		uc002izq.2				17.37:g.60342197T>C														0	1956	-									RNA	SNP	ENST00000581291.1	37																																																																																						0.488	TBC1D3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445021.1	NR_027486		3	15	0	0	0	1	0	3	15				
NEURL2	140825	broad.mit.edu	37	20	44517457	44517457	+	Silent	SNP	C	C	T			TCGA-VM-A8C9-01A-11D-A36O-08	TCGA-VM-A8C9-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47654d66-7743-498f-b2e3-872d9100560a	8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd	g.chr20:44517457C>T	ENST00000372518.4	-	2	1093	c.798G>A	c.(796-798)cgG>cgA	p.R266R	CTSA_ENST00000372459.2_5'Flank|CTSA_ENST00000191018.5_5'Flank|CTSA_ENST00000372484.3_5'Flank|SPATA25_ENST00000372519.3_5'Flank|CTSA_ENST00000354880.5_5'Flank	NM_001278535.1|NM_080749.2	NP_001265464.1|NP_542787.1	Q9BR09	NEUL2_HUMAN	neuralized E3 ubiquitin protein ligase 2	266	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|sarcomere organization (GO:0045214)	muscle tendon junction (GO:0005927)|VCB complex (GO:0030891)				large_intestine(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				CAATGGCCAGCCGGTGCACCA	0.552																																						ENST00000372518.4																			0				large_intestine(1)|lung(2)	3						c.(796-798)cgG>cgA		neuralized E3 ubiquitin protein ligase 2							96.0	81.0	86.0					20																	44517457		2203	4300	6503	SO:0001819	synonymous_variant	140825				intracellular signal transduction			g.chr20:44517457C>T	AL008726	CCDS13384.1	20q13.12	2013-10-24	2013-10-24	2004-02-27	ENSG00000124257	ENSG00000124257			16156	protein-coding gene	gene with protein product		608597	"""chromosome 20 open reading frame 163"", ""neuralized-like 2 (Drosophila)"", ""neuralized homolog 2 (Drosophila)"""	C20orf163		12076535, 19723503	Standard	NM_001278535		Approved	dJ337O18.6, FLJ30259, Ozz, Ozz-E3	uc002xqg.2	Q9BR09	OTTHUMG00000032626	ENST00000372518.4:c.798G>A	20.37:g.44517457C>T							p.R266R	NM_001278535.1|NM_080749.2	NP_001265464.1|NP_542787.1	Q9BR09	NEUL2_HUMAN			2	1093	-		Myeloproliferative disorder(115;0.0122)	266			SOCS box.		Q3KR34	Silent	SNP	ENST00000372518.4	37	c.798G>A	CCDS13384.1																																																																																				0.552	NEURL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079539.2			3	39	0	0	0	1	0	3	39				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-VM-A8C9-01A-11D-A36O-08	TCGA-VM-A8C9-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47654d66-7743-498f-b2e3-872d9100560a	8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S168S(5)	lung(2)|urinary_tract(1)|endometrium(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(502-504)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.504C>T	9.37:g.20414340G>A						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR	p.S168S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	790	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		4	70	0	0	0	1	0	4	70				
PRAMEF1	65121	broad.mit.edu	37	1	12854386	12854386	+	Silent	SNP	C	C	T	rs1063767		TCGA-VM-A8C9-01A-11D-A36O-08	TCGA-VM-A8C9-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47654d66-7743-498f-b2e3-872d9100560a	8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd	g.chr1:12854386C>T	ENST00000332296.7	+	3	713	c.610C>T	c.(610-612)Ctg>Ttg	p.L204L	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	204			L -> M (in dbSNP:rs1063767).		negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AATAATATACCTGAATAGTAT	0.393																																						ENST00000332296.7																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(610-612)Ctg>Ttg		PRAME family member 1							321.0	308.0	313.0					1																	12854386		2203	4300	6503	SO:0001819	synonymous_variant	65121							g.chr1:12854386C>T	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"""-"""	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.610C>T	1.37:g.12854386C>T							p.L204L	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	713	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	204		L -> M (in dbSNP:rs1063767).			Q9UQP2	Silent	SNP	ENST00000332296.7	37	c.610C>T	CCDS148.1																																																																																				0.393	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		6	539	0	0	0	1	0	6	539				
MAP7D1	55700	broad.mit.edu	37	1	36643701	36643703	+	In_Frame_Del	DEL	AGA	AGA	-	rs3045695|rs141305015|rs200892098	byFrequency	TCGA-VM-A8C9-01A-11D-A36O-08	TCGA-VM-A8C9-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47654d66-7743-498f-b2e3-872d9100560a	8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd	g.chr1:36643701_36643703delAGA	ENST00000373151.2	+	9	1823_1825	c.1607_1609delAGA	c.(1606-1611)gagaag>gag	p.K537del	MAP7D1_ENST00000316156.4_In_Frame_Del_p.K500del|MAP7D1_ENST00000373148.4_In_Frame_Del_p.K83del|MAP7D1_ENST00000373150.4_In_Frame_Del_p.K505del	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	537	Pro-rich.				microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				GCCAGTAACGAGAAGGAGTCAGC	0.719														323	0.0644968	0.003	0.0836	5008	,	,		9186	0.1964		0.0497	False		,,,				2504	0.0133					ENST00000316156.4																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19						c.(1495-1500)gag>g		MAP7 domain containing 1				72,4170		17,38,2066						4.1	0.8		dbSNP_102	30	425,7795		48,329,3733	no	coding	MAP7D1	NM_018067.3		65,367,5799	A1A1,A1R,RR		5.1703,1.6973,3.9881				497,11965				SO:0001651	inframe_deletion	55700					cytoplasm|spindle		g.chr1:36643701_36643703delAGA	AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"""proline arginine rich coiled coil 1"", ""arginine/proline rich coiled-coil 1"""	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.1607_1609delAGA	1.37:g.36643701_36643703delAGA	ENSP00000362244:p.Lys537del					MAP7D1_ENST00000373151.2_In_Frame_Del_p.EK536del|MAP7D1_ENST00000373150.4_In_Frame_Del_p.EK504del|MAP7D1_ENST00000373148.4_In_Frame_Del_p.EK82del	p.EK499del			Q3KQU3	MA7D1_HUMAN			8	1949_1951	+		Myeloproliferative disorder(586;0.0393)	536			Pro-rich.		D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	In_Frame_Del	DEL	ENST00000373151.2	37	c.1496_1498delAGA	CCDS30673.1																																																																																				0.719	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382095.1	NM_018067		4	5						4	5	---	---	---	---
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	lincRNA	SNP	A	A	G	rs201023195		TCGA-VM-A8C9-01A-11D-A36O-08	TCGA-VM-A8C9-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47654d66-7743-498f-b2e3-872d9100560a	8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd	g.chr1:142713774A>G	ENST00000610091.1	-	0	1884																											CTTTTTCCACATTGTCATTTT	0.284																																						ENST00000369381.2																			0																																																			0							g.chr1:142713774A>G																													1.37:g.142713774A>G														0	831	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			4	92	0	0	0	1	0	4	92				
CCT6P3	643180	broad.mit.edu	37	7	64533851	64533851	+	RNA	DEL	A	A	-			TCGA-VM-A8C9-01A-11D-A36O-08	TCGA-VM-A8C9-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47654d66-7743-498f-b2e3-872d9100560a	8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd	g.chr7:64533851delA	ENST00000426828.1	+	0	1261				SNORA15_ENST00000384334.1_RNA	NR_033416.1				chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3																		AGCAGGCATTATGGGATAACG	0.393																																						ENST00000426828.1																			0																																																			0							g.chr7:64533851delA			7q11.21	2010-06-29			ENSG00000234585	ENSG00000234585			35137	pseudogene	pseudogene							Standard	NR_033416		Approved		uc010kzt.1		OTTHUMG00000156630		7.37:g.64533851delA								NR_033416.1						0	1261	+									RNA	DEL	ENST00000426828.1	37																																																																																						0.393	CCT6P3-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344862.1			2	4						2	4	---	---	---	---
ZNF598	90850	broad.mit.edu	37	16	2049882	2049883	+	In_Frame_Ins	INS	-	-	TCC	rs61746014|rs377495742|rs370831505|rs141374045	byFrequency	TCGA-VM-A8C9-01A-11D-A36O-08	TCGA-VM-A8C9-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47654d66-7743-498f-b2e3-872d9100560a	8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd	g.chr16:2049882_2049883insTCC	ENST00000563630.1	-	9	1744_1745	c.1502_1503insGGA	c.(1501-1503)gac>gaGGAc	p.500_501insE	ZNF598_ENST00000431526.1_In_Frame_Ins_p.555_556insE|ZNF598_ENST00000562103.1_In_Frame_Ins_p.500_501insE|AC005606.15_ENST00000567515.1_lincRNA			Q86UK7	ZN598_HUMAN	zinc finger protein 598	555							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E555_D556insE(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						CCGGGCCGCCGTCCTCCTCCTC	0.703														518	0.103435	0.0061	0.1801	5008	,	,		13556	0.0387		0.1501	False		,,,				2504	0.1994					ENST00000563630.1																			1	Insertion - In frame(1)	p.E555_D556insE(1)	kidney(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						c.(1501-1503)ggg>gGGAgg		zinc finger protein 598																																				SO:0001652	inframe_insertion	90850					intracellular	zinc ion binding	g.chr16:2049882_2049883insTCC	BC029270		16p13.3	2008-05-02				ENSG00000167962		"""Zinc fingers, C2H2-type"""	28079	protein-coding gene	gene with protein product							Standard	NM_178167		Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000563630.1:c.1500_1502dupGGA	16.37:g.2049889_2049891dupTCC	ENSP00000455882:p.Glu500_Glu500dup					ZNF598_ENST00000562103.1_In_Frame_Ins_p.501_502insR|ZNF598_ENST00000431526.1_In_Frame_Ins_p.556_557insR	p.501_502insR			Q86UK7	ZN598_HUMAN			9	1744_1745	-			556					Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	In_Frame_Ins	INS	ENST00000563630.1	37	c.1502_1503insGGA																																																																																					0.703	ZNF598-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000434439.1	NM_178167		4	6						4	6	---	---	---	---
CRYBB2P1	1416	broad.mit.edu	37	22	25855682	25855683	+	RNA	INS	-	-	GT	rs61433517|rs71322752		TCGA-VM-A8C9-01A-11D-A36O-08	TCGA-VM-A8C9-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47654d66-7743-498f-b2e3-872d9100560a	8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd	g.chr22:25855682_25855683insGT	ENST00000609084.1	+	0	0									crystallin, beta B2 pseudogene 1																		CCTGGCAGCTGgtgtgtgtgtg	0.53																																						ENST00000354451.2																			0																																																			0							g.chr22:25855682_25855683insGT	M18441		22q11.2-q12.1	2012-02-29			ENSG00000100058	ENSG00000100058			2399	pseudogene	pseudogene				CRYB2B			Standard	NR_033733		Approved		uc003abu.4		OTTHUMG00000150874		22.37:g.25855691_25855692dupGT														0	366	+									RNA	INS	ENST00000609084.1	37																																																																																						0.530	CRYBB2P1-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000472347.1			3	3						3	3	---	---	---	---
