#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	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
EIF1AX	1964	broad.mit.edu	37	X	20148725	20148726	+	Splice_Site	DNP	GC	GC	AA			TCGA-EM-A1YA-01A-11D-A14W-08	TCGA-EM-A1YA-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e872b54-1efb-4071-ac86-1f53a45dd752	365c3166-e324-47d9-af32-52121df03116	g.chrX:20148725_20148726GC>AA	ENST00000379607.5	-	6	541	c.338_338GC>TT	c.(337-339)gGCc>gTTcc	p.G113V	EIF1AX_ENST00000379593.1_Splice_Site_p.G85V	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	113					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						ATTGATTTTAGCTAAGGACACA	0.312																																						uc004czt.3																			0				endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						c.e6-1		Homo sapiens eukaryotic translation initiation factor 1A, X-linked (EIF1AX), mRNA.																																				SO:0001630	splice_region_variant	1964					cytosol	translation initiation factor activity	g.chrX:20148725_20148726GC>AA	L18960	CCDS14196.1	Xp22.13	2014-02-19	2002-11-28	2004-05-26	ENSG00000173674	ENSG00000173674			3250	protein-coding gene	gene with protein product		300186	"""eukaryotic translation initiation factor 1A, X chromosome"""	EIF4C, EIF1A		8106356, 9381176	Standard	NM_001412		Approved	eIF-1A, eIF-4C	uc004czt.3	P47813	OTTHUMG00000022704	ENST00000379607.5:c.338_338delinsAA	X.37:g.20148725_20148726delinsAA			Somatic					p.A113_splice	NM_001412	NP_001403	WXS	Illumina GAIIx	Phase_I	P47813	IF1AX_HUMAN			6	546	-			113					B2R5U5|Q0VGC2|Q5JPS5|Q5JPS6	Splice_Site	DNP	ENST00000379607.5	37	c.338_splice	CCDS14196.1																																																																																				0.312	EIF1AX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058913.1		Missense_Mutation	22	41	0	0	0	1	0	22	41				
ALPK1	80216	broad.mit.edu	37	4	113362205	113362205	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A1YA-01A-11D-A14W-08	TCGA-EM-A1YA-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e872b54-1efb-4071-ac86-1f53a45dd752	365c3166-e324-47d9-af32-52121df03116	g.chr4:113362205A>G	ENST00000458497.1	+	15	3950	c.3671A>G	c.(3670-3672)gAa>gGa	p.E1224G	ALPK1_ENST00000504176.2_Missense_Mutation_p.E1146G|ALPK1_ENST00000177648.9_Missense_Mutation_p.E1224G	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	1224	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CAGCATGTGGAATGTAATGAA	0.383																																						uc003ian.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53						c.(3670-3672)gAa>gGa		Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA.							182.0	184.0	183.0					4																	113362205		2203	4300	6503	SO:0001583	missense	80216						ATP binding|protein serine/threonine kinase activity	g.chr4:113362205A>G	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"""lymphocyte alpha-kinase"""	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.3671A>G	4.37:g.113362205A>G	ENSP00000398048:p.Glu1224Gly		Somatic				ALPK1_uc003iap.4_Missense_Mutation_p.E1224G|ALPK1_uc011cfx.2_Missense_Mutation_p.E1146G|ALPK1_uc003iao.4_Non-coding_Transcript|ALPK1_uc010imo.3_Missense_Mutation_p.E1052G	p.E1224G	NM_001102406	NP_079420	WXS	Illumina GAIIx	Phase_I	Q96QP1	ALPK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00325)	14	3898	+		Ovarian(17;0.0446)|Hepatocellular(203;0.217)	1224			Alpha-type protein kinase.		B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	ENST00000458497.1	37	c.3671A>G	CCDS3697.1	.	.	.	.	.	.	.	.	.	.	A	15.73	2.920889	0.52653	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.15256	2.44;2.44;2.44	5.83	1.92	0.25849	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.686003	0.14605	N	0.309400	T	0.28400	0.0702	M	0.78637	2.42	0.09310	N	1	P;P;P	0.44946	0.673;0.846;0.72	B;P;B	0.48982	0.225;0.597;0.334	T	0.10200	-1.0640	10	0.87932	D	0	-0.2364	7.7197	0.28725	0.6668:0.264:0.0692:0.0	.	1146;1146;1224	F5H138;B4E3G1;Q96QP1	.;.;ALPK1_HUMAN	G	1224;1224;1146	ENSP00000398048:E1224G;ENSP00000177648:E1224G;ENSP00000426044:E1146G	ENSP00000177648:E1224G	E	+	2	0	ALPK1	113581654	0.648000	0.27313	0.008000	0.14137	0.954000	0.61252	3.515000	0.53429	0.107000	0.17824	0.528000	0.53228	GAA		0.383	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144		56	121	0	0	0	1	0	56	121				
PSG9	5678	broad.mit.edu	37	19	43766171	43766171	+	Missense_Mutation	SNP	C	C	A	rs373945115		TCGA-EM-A1YA-01A-11D-A14W-08	TCGA-EM-A1YA-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e872b54-1efb-4071-ac86-1f53a45dd752	365c3166-e324-47d9-af32-52121df03116	g.chr19:43766171C>A	ENST00000270077.3	-	3	646	c.550G>T	c.(550-552)Ggt>Tgt	p.G184C	PSG9_ENST00000596730.1_Intron|PSG9_ENST00000593948.1_Missense_Mutation_p.G184C|PSG9_ENST00000443718.3_Intron|PSG9_ENST00000244293.7_Missense_Mutation_p.G184C|PSG9_ENST00000418820.2_Intron|PSG9_ENST00000291752.5_Intron	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	184	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				AGGCTCTGACCATTCATCCAC	0.507																																						uc002owd.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(550-552)Ggt>Tgt		Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.							260.0	253.0	255.0					19																	43766171		2203	4300	6503	SO:0001583	missense	5678				female pregnancy	extracellular region		g.chr19:43766171C>A	M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.550G>T	19.37:g.43766171C>A	ENSP00000270077:p.Gly184Cys		Somatic				PSG9_uc002owe.4_Missense_Mutation_p.G184C|PSG9_uc010xwm.2_Intron|PSG9_uc002owf.4_Intron|PSG9_uc002owg.2_Missense_Mutation_p.G184C	p.G184C	NM_002784	NP_002775	WXS	Illumina GAIIx	Phase_I	Q00887	PSG9_HUMAN			2	649	-		Prostate(69;0.00682)	184			Ig-like C2-type 1.		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000270077.3	37	c.550G>T	CCDS12618.1	.	.	.	.	.	.	.	.	.	.	N	11.58	1.680407	0.29872	.	.	ENSG00000183668	ENST00000270077;ENST00000435220;ENST00000244293	T;T	0.17213	2.29;2.29	2.12	-1.95	0.07548	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.41971	0.1182	M	0.90252	3.1	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.19516	-1.0303	9	0.87932	D	0	.	6.1841	0.20488	0.0:0.7109:0.0:0.2891	.	184;184;184	Q15227;Q6LEU7;Q00887	.;.;PSG9_HUMAN	C	184;145;184	ENSP00000270077:G184C;ENSP00000244293:G184C	ENSP00000244293:G184C	G	-	1	0	PSG9	48458011	0.000000	0.05858	0.007000	0.13788	0.011000	0.07611	-1.033000	0.03571	-0.364000	0.08088	0.194000	0.17425	GGT		0.507	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	NM_002784		109	165	0	0	0	1	0	109	165				
IARS	3376	broad.mit.edu	37	9	95050407	95050407	+	Splice_Site	SNP	C	C	G			TCGA-EM-A1YA-01A-11D-A14W-08	TCGA-EM-A1YA-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e872b54-1efb-4071-ac86-1f53a45dd752	365c3166-e324-47d9-af32-52121df03116	g.chr9:95050407C>G	ENST00000375643.3	-	3	543		c.e3+1		IARS_ENST00000447699.2_Intron|IARS_ENST00000375629.3_Splice_Site|IARS_ENST00000443024.2_Splice_Site	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase						gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	CTCAAACATACCACAGGTAAG	0.348																																						uc004art.1																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35						c.e3+1		Homo sapiens isoleucyl-tRNA synthetase (IARS), transcript variant long, mRNA.	L-Isoleucine(DB00167)						94.0	84.0	88.0					9																	95050407		2203	4300	6503	SO:0001630	splice_region_variant	3376				isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding	g.chr9:95050407C>G	AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	5330	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 1, cytoplasmic"""	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.276+1G>C	9.37:g.95050407C>G			Somatic				IARS_uc004ars.1_Splice_Site|IARS_uc004aru.3_Splice_Site_p.V92_splice|IARS_uc010mqr.2_Intron|IARS_uc010mqt.2_Intron	p.V92_splice	NM_013417	NP_038203	WXS	Illumina GAIIx	Phase_I	P41252	SYIC_HUMAN			3	533	-			92					A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Splice_Site	SNP	ENST00000375643.3	37	c.276_splice	CCDS6694.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.898136	0.91962	.	.	ENSG00000196305	ENST00000375643;ENST00000443024;ENST00000375660;ENST00000395554	.	.	.	6.08	6.08	0.98989	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2585	0.98435	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IARS	94090228	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.039000	0.70972	2.894000	0.99253	0.655000	0.94253	.		0.348	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	NM_002161	Intron	3	54	0	0	0	1	0	3	54				
SPRED2	200734	broad.mit.edu	37	2	65540763	65540763	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1YA-01A-11D-A14W-08	TCGA-EM-A1YA-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e872b54-1efb-4071-ac86-1f53a45dd752	365c3166-e324-47d9-af32-52121df03116	g.chr2:65540763G>A	ENST00000356388.4	-	6	1318	c.1129C>T	c.(1129-1131)Cgg>Tgg	p.R377W	SPRED2_ENST00000443619.2_Missense_Mutation_p.R374W	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	377	SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						GCCATCCACCGGAGGCAAAAC	0.577																																						uc002sdr.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						c.(1129-1131)Cgg>Tgg		Homo sapiens sprouty-related, EVH1 domain containing 2 (SPRED2), transcript variant 1, mRNA.							80.0	81.0	81.0					2																	65540763		2203	4300	6503	SO:0001583	missense	200734				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding	g.chr2:65540763G>A	AF052178	CCDS33211.1, CCDS46308.1	2p14	2003-06-02			ENSG00000198369	ENSG00000198369			17722	protein-coding gene	gene with protein product		609292					Standard	NM_181784		Approved	Spred-2, FLJ21897, FLJ31917	uc002sdr.4	Q7Z698	OTTHUMG00000152737	ENST00000356388.4:c.1129C>T	2.37:g.65540763G>A	ENSP00000348753:p.Arg377Trp		Somatic				SPRED2_uc010fcw.3_Missense_Mutation_p.R374W	p.R377W	NM_181784	NP_861449	WXS	Illumina GAIIx	Phase_I	Q7Z698	SPRE2_HUMAN			5	1664	-			377			SPR.		A1L3V4|B7Z5K7|D6W5F7|E9PEP0|Q2NKX6	Missense_Mutation	SNP	ENST00000356388.4	37	c.1129C>T	CCDS33211.1	.	.	.	.	.	.	.	.	.	.	G	31	5.078954	0.94050	.	.	ENSG00000198369	ENST00000356388;ENST00000443619;ENST00000452315	T;T;T	0.75367	-0.93;-0.93;-0.93	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.90359	0.6983	M	0.93283	3.4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.92338	0.5879	10	0.87932	D	0	-9.5809	19.6373	0.95740	0.0:0.0:1.0:0.0	.	374;377	E9PEP0;Q7Z698	.;SPRE2_HUMAN	W	377;374;392	ENSP00000348753:R377W;ENSP00000393697:R374W;ENSP00000390595:R392W	ENSP00000348753:R377W	R	-	1	2	SPRED2	65394267	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.005000	0.88553	2.636000	0.89361	0.655000	0.94253	CGG		0.577	SPRED2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327632.1			3	34	0	0	0	1	0	3	34				
PKM	5315	broad.mit.edu	37	15	72495521	72495521	+	Intron	SNP	A	A	G			TCGA-EM-A1YA-01A-11D-A14W-08	TCGA-EM-A1YA-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e872b54-1efb-4071-ac86-1f53a45dd752	365c3166-e324-47d9-af32-52121df03116	g.chr15:72495521A>G	ENST00000335181.5	-	9	1244				PKM_ENST00000319622.6_Silent_p.R383R|PKM_ENST00000568883.1_Silent_p.R218R|PKM_ENST00000449901.2_Intron|PKM_ENST00000565184.1_Silent_p.R383R|PKM_ENST00000389093.3_Silent_p.R383R|PKM_ENST00000565154.1_Silent_p.R383R|PKM_ENST00000568459.1_Silent_p.R383R	NM_002654.4	NP_002645.3	P14618	KPYM_HUMAN	pyruvate kinase, muscle						carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|programmed cell death (GO:0012501)|small molecule metabolic process (GO:0044281)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			endometrium(1)|lung(7)	8					Pyruvic acid(DB00119)	CCTCAGCCTCACGAGCTATCT	0.527																																						uc010uki.2																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(6)|prostate(1)	13						c.(1369-1371)cgT>cgC		Homo sapiens pyruvate kinase, muscle (PKM2), transcript variant 4, mRNA.	Pyruvic acid(DB00119)						74.0	69.0	71.0					15																	72495521		2199	4297	6496	SO:0001627	intron_variant	5315				glycolysis|programmed cell death	cytosol|nucleus|plasma membrane	ATP binding|magnesium ion binding|potassium ion binding|protein binding|pyruvate kinase activity	g.chr15:72495521A>G	M23725	CCDS32284.1, CCDS32285.1, CCDS55972.1, CCDS73752.1	15q23	2012-10-02		2012-05-23	ENSG00000067225	ENSG00000067225	2.7.1.40		9021	protein-coding gene	gene with protein product		179050		PKM2		2040271	Standard	NM_002654		Approved	THBP1, OIP3, PK3	uc002atr.1	P14618	OTTHUMG00000172709	ENST00000335181.5:c.1141-560T>C	15.37:g.72495521A>G			Somatic				PKM2_uc002atr.1_5'Flank|PKM2_uc010bit.1_Silent_p.R388R|PKM2_uc002atx.2_Silent_p.R383R|PKM2_uc002atw.2_Silent_p.R383R|PKM2_uc002aty.2_Intron|PKM2_uc010ukj.2_Intron|PKM2_uc010ukk.2_Intron|PKM2_uc002atv.2_Silent_p.R418R|PKM2_uc010biu.1_Silent_p.R404R	p.R457R	NM_001206796	NP_001193725	WXS	Illumina GAIIx	Phase_I	P14618	KPYM_HUMAN			9	1770	-			383			Interaction with POU5F1.		A6NFK3|B2R5N8|B3KRY0|B4DFX8|B4DUU6|P14786|Q53GK4|Q96E76|Q9BWB5|Q9UCV6|Q9UPF2	Silent	SNP	ENST00000335181.5	37	c.1371T>C	CCDS32284.1																																																																																				0.527	PKM-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420056.1			3	42	0	0	0	1	0	3	42				
TMPRSS15	5651	broad.mit.edu	37	21	19666639	19666639	+	Missense_Mutation	SNP	C	C	T	rs372571410		TCGA-EM-A1YA-01A-11D-A14W-08	TCGA-EM-A1YA-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e872b54-1efb-4071-ac86-1f53a45dd752	365c3166-e324-47d9-af32-52121df03116	g.chr21:19666639C>T	ENST00000284885.3	-	21	2467	c.2434G>A	c.(2434-2436)Gca>Aca	p.A812T		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	812	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						ACGAGAGATGCGCCGCAGAGC	0.567																																						uc002ykw.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						c.(2434-2436)Gca>Aca		Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.		C	THR/ALA	0,4406		0,0,2203	75.0	77.0	76.0		2434	5.8	0.8	21		76	1,8599	1.2+/-3.3	0,1,4299	no	missense	TMPRSS15	NM_002772.2	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	812/1020	19666639	1,13005	2203	4300	6503	SO:0001583	missense	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19666639C>T		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.2434G>A	21.37:g.19666639C>T	ENSP00000284885:p.Ala812Thr		Somatic					p.A812T	NM_002772	NP_002763	WXS	Illumina GAIIx	Phase_I	P98073	ENTK_HUMAN			20	2465	-			812			Peptidase S1.		Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	c.2434G>A	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.266516	0.80358	0.0	1.16E-4	ENSG00000154646	ENST00000284885	D	0.94232	-3.38	5.79	5.79	0.91817	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.96858	0.8974	M	0.83692	2.655	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.96638	0.9472	9	.	.	.	.	17.5226	0.87791	0.0:1.0:0.0:0.0	.	812	P98073	ENTK_HUMAN	T	812	ENSP00000284885:A812T	.	A	-	1	0	TMPRSS15	18588510	1.000000	0.71417	0.847000	0.33407	0.213000	0.24496	6.497000	0.73674	2.729000	0.93468	0.643000	0.83706	GCA		0.567	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		5	64	0	0	0	1	0	5	64				
SLC10A5	347051	broad.mit.edu	37	8	82606560	82606560	+	Silent	SNP	T	T	A			TCGA-EM-A1YA-01A-11D-A14W-08	TCGA-EM-A1YA-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e872b54-1efb-4071-ac86-1f53a45dd752	365c3166-e324-47d9-af32-52121df03116	g.chr8:82606560T>A	ENST00000518568.1	-	1	1849	c.648A>T	c.(646-648)ccA>ccT	p.P216P		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	216						integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						CACCCCCTCCTGGGCACGTGC	0.468																																						uc011lfs.2																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						c.(646-648)ccA>ccT		Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 5 (SLC10A5), mRNA.							96.0	102.0	100.0					8																	82606560		2203	4300	6503	SO:0001819	synonymous_variant	347051					integral to membrane	bile acid:sodium symporter activity	g.chr8:82606560T>A		CCDS34915.1	8q21.13	2013-07-18	2013-07-18		ENSG00000253598	ENSG00000253598		"""Solute carriers"""	22981	protein-coding gene	gene with protein product							Standard	NM_001010893		Approved		uc011lfs.2	Q5PT55	OTTHUMG00000164683	ENST00000518568.1:c.648A>T	8.37:g.82606560T>A			Somatic					p.P216P	NM_001010893	NP_001010893	WXS	Illumina GAIIx	Phase_I	Q5PT55	NTCP5_HUMAN			0	648	-			216					B2RN26	Silent	SNP	ENST00000518568.1	37	c.648A>T	CCDS34915.1																																																																																				0.468	SLC10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379736.1	XM_294493		42	73	0	0	0	1	0	42	73				
ENPP1	5167	broad.mit.edu	37	6	132171195	132171195	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1YA-01A-11D-A14W-08	TCGA-EM-A1YA-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e872b54-1efb-4071-ac86-1f53a45dd752	365c3166-e324-47d9-af32-52121df03116	g.chr6:132171195G>A	ENST00000360971.2	+	3	399	c.379G>A	c.(379-381)Gtt>Att	p.V127I		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	127	SMB 1. {ECO:0000255|PROSITE- ProRule:PRU00350}.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TGCTGCCTGTGTTGAGCTTGG	0.413																																					Colon(104;336 1535 5856 11019 33782)	uc011ecf.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46						c.(379-381)Gtt>Att		Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), mRNA.	Amifostine(DB01143)|Ribavirin(DB00811)						164.0	150.0	155.0					6																	132171195		2203	4300	6503	SO:0001583	missense	5167				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity	g.chr6:132171195G>A	M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.379G>A	6.37:g.132171195G>A	ENSP00000354238:p.Val127Ile		Somatic					p.V127I	NM_006208	NP_006199	WXS	Illumina GAIIx	Phase_I	P22413	ENPP1_HUMAN		GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	2	399	+	Breast(56;0.0505)		127			SMB 1.		Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Missense_Mutation	SNP	ENST00000360971.2	37	c.379G>A	CCDS5150.2	.	.	.	.	.	.	.	.	.	.	G	19.36	3.811795	0.70797	.	.	ENSG00000197594	ENST00000360971	T	0.46451	0.87	5.53	5.53	0.82687	Somatomedin B domain (4);Somatomedin B, chordata (1);	0.080923	0.49305	D	0.000158	T	0.44808	0.1311	M	0.73962	2.25	0.44261	D	0.997119	P	0.41188	0.741	P	0.45712	0.491	T	0.41088	-0.9528	10	0.45353	T	0.12	-13.6905	18.5932	0.91222	0.0:0.0:1.0:0.0	.	127	P22413	ENPP1_HUMAN	I	127	ENSP00000354238:V127I	ENSP00000354238:V127I	V	+	1	0	ENPP1	132212888	0.986000	0.35501	0.158000	0.22627	0.537000	0.34900	6.338000	0.72963	2.759000	0.94783	0.650000	0.86243	GTT		0.413	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042238.2			9	89	0	0	0	1	0	9	89				
RGPD8	727851	broad.mit.edu	37	2	113174792	113174792	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1YA-01A-11D-A14W-08	TCGA-EM-A1YA-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e872b54-1efb-4071-ac86-1f53a45dd752	365c3166-e324-47d9-af32-52121df03116	g.chr2:113174792C>T	ENST00000302558.3	-	6	951	c.760G>A	c.(760-762)Gaa>Aaa	p.E254K	RGPD8_ENST00000330575.5_Missense_Mutation_p.E254K|RGPD8_ENST00000409750.1_Intron	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	254					protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)			endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						TCTCTATTTTCCTGCACATCT	0.388																																						uc002ths.2																			0				central_nervous_system(1)	1						c.(760-762)Gaa>Aaa		Homo sapiens RANBP2-like and GRIP domain containing 5 (RGPD5), transcript variant 1, mRNA.							19.0	26.0	25.0					2																	113174792		100	607	707	SO:0001583	missense	84220				intracellular transport	cytoplasm	binding	g.chr2:113174792C>T	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.760G>A	2.37:g.113174792C>T	ENSP00000306637:p.Glu254Lys		Somatic				RGPD5_uc010fkk.2_Intron|RGPD5_uc002tht.1_Intron|RGPD5_uc010yxm.2_Missense_Mutation_p.E254K	p.E254K	NM_005054	NP_001157935	WXS	Illumina GAIIx	Phase_I	Q99666	RGPD5_HUMAN			5	952	-			254					Q5CZA8	Missense_Mutation	SNP	ENST00000302558.3	37	c.760G>A	CCDS46394.1	.	.	.	.	.	.	.	.	.	.	C	10.90	1.480363	0.26598	.	.	ENSG00000169629	ENST00000302558;ENST00000330575	T;T	0.29655	1.56;1.56	2.48	2.48	0.30137	Tetratricopeptide-like helical (1);	.	.	.	.	T	0.20941	0.0504	L	0.35723	1.085	0.28413	N	0.918086	B;B	0.30727	0.292;0.008	B;B	0.28991	0.097;0.002	T	0.13098	-1.0522	9	0.37606	T	0.19	-19.7503	5.2907	0.15725	0.0:0.8312:0.0:0.1688	.	254;254	F8W705;O14715	.;RGPD8_HUMAN	K	254	ENSP00000306637:E254K;ENSP00000327486:E254K	ENSP00000306637:E254K	E	-	1	0	RGPD8	112891263	0.997000	0.39634	0.795000	0.32087	0.400000	0.30750	2.399000	0.44495	1.388000	0.46506	0.398000	0.26397	GAA		0.388	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		56	102	0	0	0	1	0	56	102				
IGSF22	283284	broad.mit.edu	37	11	18731052	18731052	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EM-A1YA-01A-11D-A14W-08	TCGA-EM-A1YA-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e872b54-1efb-4071-ac86-1f53a45dd752	365c3166-e324-47d9-af32-52121df03116	g.chr11:18731052G>C	ENST00000513874.1	-	18	3019	c.2880C>G	c.(2878-2880)taC>taG	p.Y960*	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	859										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CTCCCACTGTGTAGCAGGTGC	0.567																																						uc009yht.2																			0				NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						c.(2878-2880)taC>taG		Homo sapiens immunoglobulin superfamily, member 22 (IGSF22), mRNA.							108.0	113.0	111.0					11																	18731052		1965	4146	6111	SO:0001587	stop_gained	283284							g.chr11:18731052G>C	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.2880C>G	11.37:g.18731052G>C	ENSP00000421191:p.Tyr960*		Somatic				IGSF22_uc001mpa.2_Non-coding_Transcript	p.Y960*	NM_173588	NP_775859	WXS	Illumina GAIIx	Phase_I	Q8N9C0	IGS22_HUMAN			17	3070	-			859					A6NNA0|D6RGV7	Nonsense_Mutation	SNP	ENST00000513874.1	37	c.2880C>G	CCDS41625.2	.	.	.	.	.	.	.	.	.	.	G	41	8.791677	0.98956	.	.	ENSG00000179057	ENST00000513874	.	.	.	4.32	4.32	0.51571	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7485	0.69508	0.0:0.0:1.0:0.0	.	.	.	.	X	960	.	ENSP00000322422:Y859X	Y	-	3	2	IGSF22	18687628	1.000000	0.71417	0.953000	0.39169	0.970000	0.65996	2.196000	0.42686	2.243000	0.73865	0.655000	0.94253	TAC		0.567	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		4	102	0	0	0	1	0	4	102				
