#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
RPL11	6135	broad.mit.edu	37	1	24020353	24020353	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr1:24020353T>C	ENST00000374550.3	+	3	259	c.214T>C	c.(214-216)Tgc>Cgc	p.C72R	RPL11_ENST00000482370.1_3'UTR	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11	72					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein localization to nucleus (GO:0034504)|protein targeting (GO:0006605)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		TGCTGTCCACTGCACAGTTCG	0.478																																						ENST00000374550.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6						c.(214-216)Tgc>Cgc		ribosomal protein L11							112.0	96.0	102.0					1																	24020353		2203	4300	6503	SO:0001583	missense	6135				endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome	g.chr1:24020353T>C	L05092	CCDS238.1	1p36.1-p35	2011-04-06			ENSG00000142676	ENSG00000142676		"""L ribosomal proteins"""	10301	protein-coding gene	gene with protein product		604175				9582194, 10343117	Standard	NM_000975		Approved	L11	uc001bhk.3	P62913	OTTHUMG00000002926	ENST00000374550.3:c.214T>C	1.37:g.24020353T>C	ENSP00000363676:p.Cys72Arg					RPL11_ENST00000482370.1_3'UTR	p.C72R	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)	3	259	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	72					P25121|P39026|Q8TDH2|Q9Y674	Missense_Mutation	SNP	ENST00000374550.3	37	c.214T>C	CCDS238.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.884457	0.91814	.	.	ENSG00000142676	ENST00000374550;ENST00000443624;ENST00000458455	T;T;T	0.76709	-1.04;-1.04;-1.04	5.29	5.29	0.74685	Ribosomal protein L5 domain (2);	0.000000	0.85682	D	0.000000	D	0.90195	0.6935	H	0.94582	3.555	0.80722	D	1	P;P	0.45672	0.467;0.864	P;P	0.58577	0.754;0.841	D	0.92711	0.6183	10	0.87932	D	0	-5.9348	15.207	0.73186	0.0:0.0:0.0:1.0	.	71;72	P62913-2;P62913	.;RL11_HUMAN	R	72;70;70	ENSP00000363676:C72R;ENSP00000390839:C70R;ENSP00000398888:C70R	ENSP00000363676:C72R	C	+	1	0	RPL11	23892940	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.897000	0.87356	2.006000	0.58801	0.533000	0.62120	TGC		0.478	RPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008168.1	NM_000975		15	19	15	19	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158648191	158648191	+	Splice_Site	SNP	C	C	A			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr1:158648191C>A	ENST00000368147.4	-	6	992	c.812G>T	c.(811-813)aGg>aTg	p.R271M		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	271					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGATCCATACCTTTTGAATCG	0.423																																						ENST00000368147.4																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(811-813)aGg>aTg		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							125.0	114.0	117.0					1																	158648191		1856	4100	5956	SO:0001630	splice_region_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158648191C>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.812+1G>T	1.37:g.158648191C>A							p.R271M	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			6	992	-	all_hematologic(112;0.0378)							Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Splice_Site	SNP	ENST00000368147.4	37	c.812G>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.640599	0.67244	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.55234	0.53;0.53	4.66	4.66	0.58398	.	0.000000	0.34628	N	0.003817	T	0.74711	0.3752	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80484	-0.1362	9	.	.	.	.	16.6455	0.85176	0.0:1.0:0.0:0.0	.	271	P02549	SPTA1_HUMAN	M	271	ENSP00000357130:R271M;ENSP00000357129:R271M	.	R	-	2	0	SPTA1	156914815	1.000000	0.71417	1.000000	0.80357	0.215000	0.24574	6.719000	0.74718	2.572000	0.86782	0.650000	0.86243	AGG		0.423	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	Missense_Mutation	4	72	4	72	---	---	---	---
C4orf17	84103	broad.mit.edu	37	4	100434271	100434271	+	Silent	SNP	G	G	A			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr4:100434271G>A	ENST00000326581.4	+	2	395	c.33G>A	c.(31-33)caG>caA	p.Q11Q	C4orf17_ENST00000514652.1_Silent_p.Q11Q	NM_032149.2	NP_115525.2	Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	11										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		CTGCTCTTCAGATCGAGGGCA	0.463																																						ENST00000514652.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18						c.(31-33)caG>caA		chromosome 4 open reading frame 17							98.0	81.0	87.0					4																	100434271		2203	4300	6503	SO:0001819	synonymous_variant	84103							g.chr4:100434271G>A	AL136838	CCDS3649.1	4q23	2008-02-05			ENSG00000138813	ENSG00000138813			25274	protein-coding gene	gene with protein product						11230166	Standard	NM_032149		Approved	DKFZP434G072	uc003huw.3	Q53FE4	OTTHUMG00000131027	ENST00000326581.4:c.33G>A	4.37:g.100434271G>A						C4orf17_ENST00000326581.4_Silent_p.Q11Q	p.Q11Q			Q53FE4	CD017_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)	2	387	+			11					Q6FI84|Q6IS77|Q8NA78|Q9H0D9	Silent	SNP	ENST00000326581.4	37	c.33G>A	CCDS3649.1																																																																																				0.463	C4orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253670.2	NM_032149		8	51	8	51	---	---	---	---
PROP1	5626	broad.mit.edu	37	5	177419968	177419968	+	Silent	SNP	G	G	A	rs200977367		TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr5:177419968G>A	ENST00000308304.2	-	3	731	c.423C>T	c.(421-423)gcC>gcT	p.A141A		NM_006261.4	NP_006252	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	141					blood vessel development (GO:0001568)|canonical Wnt signaling pathway (GO:0060070)|cell migration (GO:0016477)|central nervous system development (GO:0007417)|dorsal/ventral pattern formation (GO:0009953)|hypophysis morphogenesis (GO:0048850)|hypothalamus cell differentiation (GO:0021979)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatotropin secreting cell differentiation (GO:0060126)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGAAAAGGCGGCAGGAGACA	0.587																																						ENST00000308304.2																			0				endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13						c.(421-423)gcC>gcT		PROP paired-like homeobox 1							154.0	140.0	145.0					5																	177419968		2203	4300	6503	SO:0001819	synonymous_variant	5626				central nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:177419968G>A	AF076215	CCDS4430.1	5q35.3	2011-06-20	2007-07-12		ENSG00000175325	ENSG00000175325		"""Homeoboxes / PRD class"""	9455	protein-coding gene	gene with protein product		601538	"""prophet of Pit1, paired-like homeodomain transcription factor"""			9462743	Standard	NM_006261		Approved		uc003mif.1	O75360	OTTHUMG00000130887	ENST00000308304.2:c.423C>T	5.37:g.177419968G>A							p.A141A	NM_006261.4	NP_006252	O75360	PROP1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	731	-	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	141						Silent	SNP	ENST00000308304.2	37	c.423C>T	CCDS4430.1																																																																																				0.587	PROP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253472.1	NM_006261		3	14	3	14	---	---	---	---
C6orf165	154313	broad.mit.edu	37	6	88120351	88120351	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr6:88120351A>G	ENST00000507897.1	+	3	240	c.157A>G	c.(157-159)Acc>Gcc	p.T53A	C6ORF165_ENST00000369562.4_Missense_Mutation_p.T53A			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	53										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		CATGGATAGAACCCTCATGAA	0.353																																						ENST00000507897.1																			0				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(157-159)Acc>Gcc		chromosome 6 open reading frame 165							167.0	161.0	163.0					6																	88120351		2203	4300	6503	SO:0001583	missense	154313							g.chr6:88120351A>G	BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.157A>G	6.37:g.88120351A>G	ENSP00000426769:p.Thr53Ala					C6ORF165_ENST00000369562.4_Missense_Mutation_p.T53A	p.T53A			Q8IYR0	CF165_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0419)	3	240	+		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	53					A8K969|E1P507|Q8N9U4	Missense_Mutation	SNP	ENST00000507897.1	37	c.157A>G	CCDS34498.1	.	.	.	.	.	.	.	.	.	.	A	10.39	1.337952	0.24253	.	.	ENSG00000213204	ENST00000369562;ENST00000480123	T;T	0.31510	1.49;1.5	5.73	1.97	0.26223	.	0.392990	0.28952	N	0.013612	T	0.07999	0.0200	L	0.33753	1.03	0.37944	D	0.932425	B;B	0.14438	0.01;0.005	B;B	0.12837	0.008;0.004	T	0.18053	-1.0349	10	0.14656	T	0.56	.	9.9455	0.41607	0.8061:0.0:0.1939:0.0	.	53;53	Q8IYR0;E1P509	CF165_HUMAN;.	A	53	ENSP00000358575:T53A;ENSP00000422494:T53A	ENSP00000358575:T53A	T	+	1	0	C6orf165	88177070	0.775000	0.28604	0.778000	0.31720	0.926000	0.56050	2.276000	0.43408	0.155000	0.19261	-0.256000	0.11100	ACC		0.353	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000470406.1	NM_178823		3	44	3	44	---	---	---	---
PON2	5445	broad.mit.edu	37	7	95039375	95039375	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr7:95039375T>C	ENST00000222572.3	-	6	779	c.533A>G	c.(532-534)tAt>tGt	p.Y178C	PON2_ENST00000433091.2_Missense_Mutation_p.Y166C|PON2_ENST00000536183.1_Missense_Mutation_p.Y199C|PON2_ENST00000483292.1_5'UTR			Q15165	PON2_HUMAN	paraoxonase 2	178					aromatic compound catabolic process (GO:0019439)|response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arylesterase activity (GO:0004064)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)			ATTTGTGGCATAGAAATGTGC	0.368																																					GBM(42;803 823 13649 23368 31463)	ENST00000536183.1																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9						c.(595-597)tAt>tGt		paraoxonase 2							97.0	92.0	94.0					7																	95039375		2203	4300	6503	SO:0001583	missense	5445				aromatic compound catabolic process	extracellular region|plasma membrane	arylesterase activity|identical protein binding|metal ion binding	g.chr7:95039375T>C	M63012, AF001601	CCDS5640.1, CCDS47644.1	7q21.3	2014-03-14			ENSG00000105854	ENSG00000105854	3.1.1.2	"""Paraoxonases"""	9205	protein-coding gene	gene with protein product	"""paraoxonase nirs"", ""arylesterase 2"""	602447				8661009, 9714608	Standard	XM_005250453		Approved		uc003unv.3	Q15165	OTTHUMG00000153948	ENST00000222572.3:c.533A>G	7.37:g.95039375T>C	ENSP00000222572:p.Tyr178Cys					PON2_ENST00000222572.3_Missense_Mutation_p.Y178C|PON2_ENST00000433091.2_Missense_Mutation_p.Y166C|PON2_ENST00000483292.1_5'UTR	p.Y199C	NM_000305.2	NP_000296.2	Q15165	PON2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		6	779	-	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		178					A4D1H7|B2RCP9|B4DJD5|O15114|O15115|O75856|Q5FBX7|Q86YL0	Missense_Mutation	SNP	ENST00000222572.3	37	c.596A>G	CCDS5640.1	.	.	.	.	.	.	.	.	.	.	T	18.97	3.735365	0.69189	.	.	ENSG00000105854	ENST00000536183;ENST00000355659;ENST00000433091;ENST00000222572	T;T;T	0.58506	0.33;0.33;0.33	4.97	4.97	0.65823	Six-bladed beta-propeller, TolB-like (1);	0.056140	0.64402	D	0.000001	T	0.80706	0.4674	M	0.91354	3.2	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85512	0.1198	10	0.87932	D	0	-3.641	15.1215	0.72447	0.0:0.0:0.0:1.0	.	178;178	A4D1H7;Q15165	.;PON2_HUMAN	C	199;176;166;178	ENSP00000440282:Y199C;ENSP00000404622:Y166C;ENSP00000222572:Y178C	ENSP00000222572:Y178C	Y	-	2	0	PON2	94877311	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	5.547000	0.67249	2.222000	0.72286	0.528000	0.53228	TAT		0.368	PON2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333142.1	NM_000305		16	21	16	21	---	---	---	---
CCDC171	203238	broad.mit.edu	37	9	15678826	15678826	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr9:15678826A>G	ENST00000380701.3	+	10	1475	c.1147A>G	c.(1147-1149)Ata>Gta	p.I383V	CCDC171_ENST00000297641.3_Missense_Mutation_p.I383V	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	383																	GAAAGTAATTATAGACCTTTC	0.313																																						ENST00000380701.3																			0											c.(1147-1149)Ata>Gta		coiled-coil domain containing 171							47.0	49.0	48.0					9																	15678826		2202	4292	6494	SO:0001583	missense	203238							g.chr9:15678826A>G	AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"""myosin tail domain containing protein"""		"""chromosome 9 open reading frame 93"""	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.1147A>G	9.37:g.15678826A>G	ENSP00000370077:p.Ile383Val					CCDC171_ENST00000297641.3_Missense_Mutation_p.I383V	p.I383V	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN			10	1475	+			383					B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Missense_Mutation	SNP	ENST00000380701.3	37	c.1147A>G	CCDS6481.1	.	.	.	.	.	.	.	.	.	.	A	6.884	0.532588	0.13127	.	.	ENSG00000164989	ENST00000297641;ENST00000380701	T;T	0.13778	2.56;2.56	5.06	3.9	0.45041	.	0.896729	0.09937	N	0.736491	T	0.09468	0.0233	N	0.14661	0.345	0.80722	D	1	B;B;B	0.12630	0.006;0.006;0.003	B;B;B	0.16289	0.015;0.009;0.01	T	0.13899	-1.0492	10	0.29301	T	0.29	-0.4233	10.9674	0.47421	0.8431:0.1568:0.0:0.0	.	383;383;383	B7ZM22;Q6TFL3-3;Q6TFL3	.;.;CI093_HUMAN	V	383	ENSP00000297641:I383V;ENSP00000370077:I383V	ENSP00000297641:I383V	I	+	1	0	C9orf93	15668826	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	2.602000	0.46257	0.847000	0.35167	0.454000	0.30748	ATA		0.313	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	NM_173550		6	37	6	37	---	---	---	---
RALGPS1	9649	broad.mit.edu	37	9	129977092	129977092	+	Missense_Mutation	SNP	G	G	T			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr9:129977092G>T	ENST00000259351.5	+	18	1882	c.1615G>T	c.(1615-1617)Gat>Tat	p.D539Y	RP13-225O21.2_ENST00000453199.1_RNA|RALGPS1_ENST00000373434.1_Missense_Mutation_p.D489Y|RALGPS1_ENST00000424082.2_Missense_Mutation_p.D497Y	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	539	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.|Required for stimulation of nucleotide exchange by RALA.				intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ral GTPase activity (GO:0032852)|regulation of Ral protein signal transduction (GO:0032485)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ral guanyl-nucleotide exchange factor activity (GO:0008321)			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						CAAGCATTTGGATGATGCATG	0.438											OREG0019504	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000259351.5																			0				kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.(1615-1617)Gat>Tat		Ral GEF with PH domain and SH3 binding motif 1							172.0	154.0	160.0					9																	129977092		2203	4300	6503	SO:0001583	missense	9649				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	g.chr9:129977092G>T	AB002349	CCDS35143.1, CCDS55344.1, CCDS55345.1, CCDS55346.1	9q33.3	2013-01-10			ENSG00000136828	ENSG00000136828		"""Pleckstrin homology (PH) domain containing"""	16851	protein-coding gene	gene with protein product		614444				9205841, 10747847	Standard	NM_001190728		Approved	RALGPS1A, RALGEF2, KIAA0351	uc004bqo.2	Q5JS13	OTTHUMG00000020696	ENST00000259351.5:c.1615G>T	9.37:g.129977092G>T	ENSP00000259351:p.Asp539Tyr		OREG0019504	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1576	RP13-225O21.2_ENST00000453199.1_RNA|RALGPS1_ENST00000424082.2_Missense_Mutation_p.D497Y|RALGPS1_ENST00000373434.1_Missense_Mutation_p.D489Y	p.D539Y	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN			18	1882	+			539			PH.|Required for stimulation of nucleotide exchange by RALA.		B4DR86|E9PBQ5|O15059|Q5JT60|Q5JT65|Q5JUG5|Q8N4S6|Q8N5H4|Q8WUV7|Q9NZ16	Missense_Mutation	SNP	ENST00000259351.5	37	c.1615G>T	CCDS35143.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.2|28.2	4.900508|4.900508	0.92035|0.92035	.|.	.|.	ENSG00000136828|ENSG00000136828	ENST00000259351;ENST00000424082;ENST00000373434|ENST00000438723	T;T;T|.	0.75477|.	-0.94;-0.94;-0.94|.	5.7|5.7	5.7|5.7	0.88788|0.88788	Pleckstrin homology-type (1);Pleckstrin homology domain (3);|.	0.096907|.	0.64402|.	D|.	0.000002|.	T|T	0.56790|0.56790	0.2009|0.2009	N|N	0.22421|0.22421	0.69|0.69	0.51482|0.51482	D|D	0.999921|0.999921	D;D;D|.	0.71674|.	0.998;0.997;0.996|.	P;P;P|.	0.60117|.	0.869;0.853;0.845|.	T|T	0.49844|0.49844	-0.8896|-0.8896	10|5	0.66056|.	D|.	0.02|.	.|.	19.8471|19.8471	0.96713|0.96713	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	497;489;539|.	E9PBQ5;Q5JS13-2;Q5JS13|.	.;.;RGPS1_HUMAN|.	Y|C	539;497;489|134	ENSP00000259351:D539Y;ENSP00000415630:D497Y;ENSP00000362533:D489Y|.	ENSP00000259351:D539Y|.	D|W	+|+	1|3	0|0	RALGPS1|RALGPS1	129016913|129016913	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.119000|7.119000	0.77145|0.77145	2.688000|2.688000	0.91661|0.91661	0.655000|0.655000	0.94253|0.94253	GAT|TGG		0.438	RALGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054133.1	NM_014636		23	54	23	54	---	---	---	---
GRIA4	2893	broad.mit.edu	37	11	105623908	105623908	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr11:105623908A>G	ENST00000530497.1	+	3	449	c.449A>G	c.(448-450)gAa>gGa	p.E150G	GRIA4_ENST00000393127.2_Missense_Mutation_p.E150G|GRIA4_ENST00000393125.2_Missense_Mutation_p.E150G|GRIA4_ENST00000282499.5_Missense_Mutation_p.E150G|GRIA4_ENST00000428631.2_Missense_Mutation_p.E150G|GRIA4_ENST00000525187.1_Missense_Mutation_p.E150G			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	150					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		GATCACTACGAATGGAACTGT	0.438																																						ENST00000393127.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82						c.(448-450)gAa>gGa		glutamate receptor, ionotropic, AMPA 4	L-Glutamic Acid(DB00142)						154.0	133.0	140.0					11																	105623908		2202	4299	6501	SO:0001583	missense	2893				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105623908A>G	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.449A>G	11.37:g.105623908A>G	ENSP00000435775:p.Glu150Gly					GRIA4_ENST00000428631.2_Missense_Mutation_p.E150G|GRIA4_ENST00000393125.2_Missense_Mutation_p.E150G|GRIA4_ENST00000525187.1_Missense_Mutation_p.E150G|GRIA4_ENST00000282499.5_Missense_Mutation_p.E150G|GRIA4_ENST00000530497.1_Missense_Mutation_p.E150G	p.E150G	NM_001077243.2	NP_001070711	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	4	895	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	150					Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	c.449A>G	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	A	5.755	0.323737	0.10900	.	.	ENSG00000152578	ENST00000393125;ENST00000282499;ENST00000393127;ENST00000428631;ENST00000531011;ENST00000530497;ENST00000525187	T;T;T;T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29;-1.29;-1.29;-1.29	5.51	5.51	0.81932	Extracellular ligand-binding receptor (1);	0.085998	0.49305	D	0.000157	T	0.52322	0.1727	N	0.00926	-1.1	0.41109	D	0.985724	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.53968	-0.8363	10	0.22706	T	0.39	.	10.047	0.42192	0.9252:0.0:0.0748:0.0	.	150;150;180;150	P48058;G3V164;Q59GL7;Q86XE8	GRIA4_HUMAN;.;.;.	G	150	ENSP00000376833:E150G;ENSP00000282499:E150G;ENSP00000376835:E150G;ENSP00000415551:E150G;ENSP00000432443:E150G;ENSP00000435775:E150G;ENSP00000432180:E150G	ENSP00000282499:E150G	E	+	2	0	GRIA4	105129118	1.000000	0.71417	0.998000	0.56505	0.885000	0.51271	7.574000	0.82434	2.103000	0.63969	0.533000	0.62120	GAA		0.438	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			9	76	9	76	---	---	---	---
ZNF770	54989	broad.mit.edu	37	15	35273990	35273990	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr15:35273990G>A	ENST00000356321.4	-	3	1990	c.1646C>T	c.(1645-1647)tCa>tTa	p.S549L		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	549					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		ATTATTACCTGAATGATTAGA	0.368																																						ENST00000356321.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29						c.(1645-1647)tCa>tTa		zinc finger protein 770							111.0	114.0	113.0					15																	35273990		2201	4298	6499	SO:0001583	missense	54989				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:35273990G>A	BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"""Zinc fingers, C2H2-type"""	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.1646C>T	15.37:g.35273990G>A	ENSP00000348673:p.Ser549Leu						p.S549L	NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)	3	1990	-		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)	549					Q6ZMZ6|Q9NWV2	Missense_Mutation	SNP	ENST00000356321.4	37	c.1646C>T	CCDS10042.1	.	.	.	.	.	.	.	.	.	.	G	0.078	-1.188866	0.01607	.	.	ENSG00000198146	ENST00000356321	T	0.08546	3.08	5.1	1.87	0.25490	.	0.484707	0.19415	U	0.114823	T	0.04092	0.0114	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37454	-0.9705	10	0.48119	T	0.1	-0.2346	7.251	0.26150	0.0877:0.0:0.3206:0.5917	.	549	Q6IQ21	ZN770_HUMAN	L	549	ENSP00000348673:S549L	ENSP00000348673:S549L	S	-	2	0	ZNF770	33061282	0.147000	0.22687	0.003000	0.11579	0.012000	0.07955	0.287000	0.18920	0.688000	0.31529	0.467000	0.42956	TCA		0.368	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251896.2	NM_014106		8	96	8	96	---	---	---	---
ATF7IP2	80063	broad.mit.edu	37	16	10575982	10575982	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr16:10575982C>T	ENST00000396560.2	+	12	2152	c.1925C>T	c.(1924-1926)aCt>aTt	p.T642I	ATF7IP2_ENST00000396559.1_3'UTR|ATF7IP2_ENST00000324570.5_3'UTR|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.T642I|ATF7IP2_ENST00000543967.1_Missense_Mutation_p.T186I	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	642	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				large_intestine(3)	3						ATGGCCTGTACTTTATCTCAG	0.358																																						ENST00000396560.2																			0				large_intestine(3)	3						c.(1924-1926)aCt>aTt		activating transcription factor 7 interacting protein 2							99.0	100.0	100.0					16																	10575982		2197	4300	6497	SO:0001583	missense	80063				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr16:10575982C>T	AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.1925C>T	16.37:g.10575982C>T	ENSP00000379808:p.Thr642Ile					ATF7IP2_ENST00000324570.5_3'UTR|ATF7IP2_ENST00000396559.1_3'UTR|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.T642I|ATF7IP2_ENST00000543967.1_Missense_Mutation_p.T186I	p.T642I	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN			12	2152	+			642			Fibronectin type-III.		B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Missense_Mutation	SNP	ENST00000396560.2	37	c.1925C>T	CCDS10540.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.842715	0.91197	.	.	ENSG00000166669	ENST00000543967;ENST00000396560;ENST00000356427	T;T;T	0.32023	1.51;1.47;1.47	5.78	5.78	0.91487	.	0.000000	0.64402	D	0.000003	T	0.57021	0.2025	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58092	-0.7697	10	0.87932	D	0	-12.6118	17.4947	0.87714	0.0:1.0:0.0:0.0	.	642	Q5U623	MCAF2_HUMAN	I	186;642;642	ENSP00000446119:T186I;ENSP00000379808:T642I;ENSP00000348799:T642I	ENSP00000348799:T642I	T	+	2	0	ATF7IP2	10483483	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.191000	0.50981	2.736000	0.93811	0.555000	0.69702	ACT		0.358	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251961.1	NM_024997		49	80	49	80	---	---	---	---
SLC38A7	55238	broad.mit.edu	37	16	58713793	58713793	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr16:58713793C>T	ENST00000570101.1	-	2	1121	c.238G>A	c.(238-240)Ggg>Agg	p.G80R	SLC38A7_ENST00000566953.1_Intron|SLC38A7_ENST00000219320.4_Missense_Mutation_p.G80R|SLC38A7_ENST00000564391.1_Missense_Mutation_p.G80R|SLC38A7_ENST00000564100.1_Missense_Mutation_p.G80R|SLC38A7_ENST00000564010.1_Intron			Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	80					sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	L-alanine transmembrane transporter activity (GO:0015180)|L-amino acid transmembrane transporter activity (GO:0015179)|L-asparagine transmembrane transporter activity (GO:0015182)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|L-glutamine transmembrane transporter activity (GO:0015186)|L-histidine transmembrane transporter activity (GO:0005290)|L-leucine transmembrane transporter activity (GO:0015190)|L-methionine transmembrane transporter activity (GO:0015191)|L-serine transmembrane transporter activity (GO:0015194)			endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						GCCACGCCCCCCGCAGTGCTG	0.622																																						ENST00000570101.1																			0				endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(238-240)Ggg>Agg		solute carrier family 38, member 7							44.0	42.0	43.0					16																	58713793		2198	4300	6498	SO:0001583	missense	55238				amino acid transport|sodium ion transport	integral to membrane		g.chr16:58713793C>T	BC001961	CCDS10800.1	16q21	2013-05-22			ENSG00000103042	ENSG00000103042		"""Solute carriers"""	25582	protein-coding gene	gene with protein product		614236					Standard	XM_006721229		Approved	FLJ10815	uc002eod.1	Q9NVC3	OTTHUMG00000133491	ENST00000570101.1:c.238G>A	16.37:g.58713793C>T	ENSP00000454646:p.Gly80Arg					SLC38A7_ENST00000219320.4_Missense_Mutation_p.G80R|SLC38A7_ENST00000564391.1_Missense_Mutation_p.G80R|SLC38A7_ENST00000564100.1_Missense_Mutation_p.G80R|SLC38A7_ENST00000566953.1_Intron|SLC38A7_ENST00000564010.1_Intron	p.G80R			Q9NVC3	S38A7_HUMAN			2	1121	-			80					Q53GJ9|Q9H9I5	Missense_Mutation	SNP	ENST00000570101.1	37	c.238G>A	CCDS10800.1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.905326	0.72868	.	.	ENSG00000103042	ENST00000219320	T	0.52295	0.67	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.72953	0.3525	M	0.82517	2.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.986	T	0.73439	-0.3982	9	.	.	.	.	19.2845	0.94065	0.0:1.0:0.0:0.0	.	80;80	Q9NVC3;Q9NVC3-2	S38A7_HUMAN;.	R	80	ENSP00000219320:G80R	.	G	-	1	0	SLC38A7	57271294	1.000000	0.71417	0.972000	0.41901	0.002000	0.02628	7.332000	0.79203	2.813000	0.96785	0.655000	0.94253	GGG		0.622	SLC38A7-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422206.2	NM_018231		8	10	8	10	---	---	---	---
ZNF468	90333	broad.mit.edu	37	19	53343985	53343985	+	Missense_Mutation	SNP	T	T	G			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr19:53343985T>G	ENST00000595646.1	-	4	1682	c.1562A>C	c.(1561-1563)aAg>aCg	p.K521T	ZNF468_ENST00000390651.4_Missense_Mutation_p.K468T|ZNF468_ENST00000243639.4_3'UTR|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000396409.4_Missense_Mutation_p.K468T			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	521					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		CTATTAAGGCTTCTCTCCACT	0.413																																						ENST00000595646.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23						c.(1561-1563)aAg>aCg		zinc finger protein 468							169.0	152.0	158.0					19																	53343985		2203	4300	6503	SO:0001583	missense	90333				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53343985T>G	AK023558	CCDS33094.1, CCDS62781.1	19q13.41	2013-01-08				ENSG00000204604		"""Zinc fingers, C2H2-type"", ""-"""	33105	protein-coding gene	gene with protein product						16144304	Standard	NM_001277120		Approved		uc002qaf.3	Q5VIY5		ENST00000595646.1:c.1562A>C	19.37:g.53343985T>G	ENSP00000470381:p.Lys521Thr					ZNF468_ENST00000396409.4_Missense_Mutation_p.K468T|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000243639.4_3'UTR|ZNF468_ENST00000390651.4_Missense_Mutation_p.K468T	p.K521T			Q5VIY5	ZN468_HUMAN		GBM - Glioblastoma multiforme(134;0.0358)	4	1682	-			521					A8MV20|Q5CZB8|Q5VIY4|Q68DI7	Missense_Mutation	SNP	ENST00000595646.1	37	c.1562A>C	CCDS33094.1	.	.	.	.	.	.	.	.	.	.	-	9.278	1.047398	0.19827	.	.	ENSG00000204604	ENST00000243639;ENST00000396409;ENST00000390651	T;T	0.08984	3.03;3.03	1.99	1.99	0.26369	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26521	0.0648	M	0.83774	2.66	0.23519	N	0.997509	D	0.55800	0.973	D	0.65010	0.931	T	0.02676	-1.1125	9	0.87932	D	0	.	8.6967	0.34301	0.0:0.0:0.0:1.0	.	521	Q5VIY5	ZN468_HUMAN	T	521;468;468	ENSP00000379690:K468T;ENSP00000445669:K468T	ENSP00000243639:K521T	K	-	2	0	ZNF468	58035797	0.006000	0.16342	0.118000	0.21660	0.007000	0.05969	-0.249000	0.08842	0.899000	0.36444	0.386000	0.25728	AAG		0.413	ZNF468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463098.1	NM_001008801		31	79	31	79	---	---	---	---
SLC12A5	57468	broad.mit.edu	37	20	44670163	44670163	+	Silent	SNP	C	C	A			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr20:44670163C>A	ENST00000454036.2	+	8	1168	c.1119C>A	c.(1117-1119)gcC>gcA	p.A373A	SLC12A5_ENST00000243964.3_Silent_p.A350A	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	373					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTGGTGCTGCCAGTGGCCTCA	0.567																																						ENST00000243964.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80						c.(1048-1050)gcC>gcA		solute carrier family 12 (potassium/chloride transporter), member 5	Bumetanide(DB00887)|Potassium Chloride(DB00761)						59.0	56.0	57.0					20																	44670163		2203	4300	6503	SO:0001819	synonymous_variant	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44670163C>A	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.1119C>A	20.37:g.44670163C>A						SLC12A5_ENST00000454036.2_Silent_p.A373A	p.A350A	NM_020708.4	NP_065759.1	Q9H2X9	S12A5_HUMAN			8	1148	+		Myeloproliferative disorder(115;0.0122)	373					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Silent	SNP	ENST00000454036.2	37	c.1050C>A	CCDS46610.1																																																																																				0.567	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			20	41	20	41	---	---	---	---
ZNFX1	57169	broad.mit.edu	37	20	47887616	47887616	+	Missense_Mutation	SNP	T	T	G			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr20:47887616T>G	ENST00000396105.1	-	3	979	c.733A>C	c.(733-735)Agc>Cgc	p.S245R	ZNFX1_ENST00000371752.1_Missense_Mutation_p.S245R|ZNFX1_ENST00000371754.4_Missense_Mutation_p.S245R	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	245							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ATGATGTTGCTTATGTGCTCT	0.493																																						ENST00000396105.1																			0				cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60						c.(733-735)Agc>Cgc		zinc finger, NFX1-type containing 1							147.0	149.0	148.0					20																	47887616		2203	4300	6503	SO:0001583	missense	57169						metal ion binding	g.chr20:47887616T>G	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.733A>C	20.37:g.47887616T>G	ENSP00000379412:p.Ser245Arg					ZNFX1_ENST00000371752.1_Missense_Mutation_p.S245R|ZNFX1_ENST00000371754.4_Missense_Mutation_p.S245R	p.S245R	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		3	979	-			245					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	c.733A>C	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	T	11.12	1.543940	0.27563	.	.	ENSG00000124201	ENST00000396106;ENST00000371754;ENST00000371752;ENST00000396105;ENST00000371744;ENST00000455070	T;T;T;T;D	0.81739	-0.32;-0.32;-0.32;-0.32;-1.53	5.87	2.45	0.29901	.	0.407546	0.31061	N	0.008323	T	0.61060	0.2317	L	0.34521	1.04	0.27756	N	0.944009	B	0.32302	0.363	B	0.24541	0.054	T	0.46048	-0.9219	10	0.15952	T	0.53	-11.4971	3.6568	0.08223	0.1586:0.3085:0.0:0.5328	.	245	Q9P2E3	ZNFX1_HUMAN	R	245;245;245;245;245;49	ENSP00000360819:S245R;ENSP00000360817:S245R;ENSP00000379412:S245R;ENSP00000360809:S245R;ENSP00000413800:S49R	ENSP00000360809:S245R	S	-	1	0	ZNFX1	47321023	0.185000	0.23213	0.993000	0.49108	0.997000	0.91878	0.556000	0.23438	0.494000	0.27859	0.533000	0.62120	AGC		0.493	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		4	52	4	52	---	---	---	---
OPRL1	4987	broad.mit.edu	37	20	62730046	62730046	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr20:62730046C>T	ENST00000349451.3	+	6	1419	c.1007C>T	c.(1006-1008)gCa>gTa	p.A336V	OPRL1_ENST00000336866.2_Missense_Mutation_p.A336V|OPRL1_ENST00000355631.4_Missense_Mutation_p.A336V	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	336					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavior (GO:0007610)|opioid receptor signaling pathway (GO:0038003)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|nociceptin receptor activity (GO:0001626)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					TTCTGCTGTGCATCTGCCCTG	0.637																																						ENST00000349451.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19						c.(1006-1008)gCa>gTa		opiate receptor-like 1							93.0	81.0	85.0					20																	62730046		2202	4299	6501	SO:0001583	missense	4987				elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity	g.chr20:62730046C>T		CCDS13556.1	20q13.33	2012-08-08			ENSG00000125510	ENSG00000125510		"""GPCR / Class A : Opioid receptors"""	8155	protein-coding gene	gene with protein product	"""LC132 receptor-like"", ""orphanin FQ receptor"", ""kappa3-related opioid receptor"""	602548				8137918	Standard	NM_000913		Approved	NOCIR, ORL1, OOR, KOR-3	uc021wgs.1	P41146	OTTHUMG00000033027	ENST00000349451.3:c.1007C>T	20.37:g.62730046C>T	ENSP00000336764:p.Ala336Val					OPRL1_ENST00000336866.2_Missense_Mutation_p.A336V|OPRL1_ENST00000355631.4_Missense_Mutation_p.A336V	p.A336V	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN			6	1419	+	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)		336					Q8TD34|Q8WYH9|Q9H4K4	Missense_Mutation	SNP	ENST00000349451.3	37	c.1007C>T	CCDS13556.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.261377	0.39995	.	.	ENSG00000125510	ENST00000336866;ENST00000355631;ENST00000349451	T;T;T	0.36878	1.23;1.23;1.23	5.12	5.12	0.69794	.	1.378430	0.04854	N	0.442891	T	0.33962	0.0881	N	0.22421	0.69	0.37050	D	0.897557	B;B	0.18741	0.03;0.018	B;B	0.21917	0.037;0.016	T	0.06481	-1.0824	10	0.19147	T	0.46	.	18.5716	0.91137	0.0:1.0:0.0:0.0	.	331;336	P41146-2;P41146	.;OPRX_HUMAN	V	336	ENSP00000336843:A336V;ENSP00000347848:A336V;ENSP00000336764:A336V	ENSP00000336843:A336V	A	+	2	0	OPRL1	62200490	0.849000	0.29639	0.149000	0.22428	0.191000	0.23601	5.916000	0.69981	2.381000	0.81170	0.550000	0.68814	GCA		0.637	OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080295.1	NM_182647		14	30	14	30	---	---	---	---
CPT1B	1375	broad.mit.edu	37	22	51009403	51009403	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr22:51009403T>C	ENST00000360719.2	-	16	2082	c.1945A>G	c.(1945-1947)Acc>Gcc	p.T649A	CPT1B_ENST00000434492.2_Missense_Mutation_p.T444A|CPT1B_ENST00000440709.1_Missense_Mutation_p.T568A|CPT1B_ENST00000395650.2_Missense_Mutation_p.T649A|CPT1B_ENST00000457250.1_Missense_Mutation_p.T615A|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000312108.7_Missense_Mutation_p.T649A|CPT1B_ENST00000405237.3_Missense_Mutation_p.T649A	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	649					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		CCTGCCCCGGTCATGGCCAGG	0.547																																					Esophageal Squamous(170;988 1933 25577 30295 48163)	ENST00000360719.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(1945-1947)Acc>Gcc		carnitine palmitoyltransferase 1B (muscle)							170.0	165.0	167.0					22																	51009403		2203	4300	6503	SO:0001583	missense	1375				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr22:51009403T>C	U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.1945A>G	22.37:g.51009403T>C	ENSP00000353945:p.Thr649Ala					CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000434492.2_Missense_Mutation_p.T444A|CPT1B_ENST00000395650.2_Missense_Mutation_p.T649A|CPT1B_ENST00000457250.1_Missense_Mutation_p.T615A|CPT1B_ENST00000440709.1_Missense_Mutation_p.T568A|CPT1B_ENST00000405237.3_Missense_Mutation_p.T649A|CPT1B_ENST00000312108.7_Missense_Mutation_p.T649A	p.T649A	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)	16	2082	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	649					B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Missense_Mutation	SNP	ENST00000360719.2	37	c.1945A>G	CCDS14098.1	.	.	.	.	.	.	.	.	.	.	T	18.34	3.602739	0.66445	.	.	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000457250;ENST00000440709;ENST00000434492;ENST00000395650	D;D;D;D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.93442	0.7908	M	0.73372	2.23	0.80722	D	1	D;B;D;D	0.89917	0.999;0.443;1.0;0.999	D;B;D;D	0.83275	0.996;0.304;0.986;0.986	D	0.92972	0.6398	10	0.41790	T	0.15	-15.9475	13.9942	0.64386	0.0:0.0:0.0:1.0	.	568;615;444;649	E9PCP2;B7Z4U4;A2RRE8;Q92523	.;.;.;CPT1B_HUMAN	A	649;649;649;615;568;444;649	ENSP00000385486:T649A;ENSP00000312189:T649A;ENSP00000353945:T649A;ENSP00000409342:T615A;ENSP00000414713:T568A;ENSP00000410966:T444A;ENSP00000379011:T649A	ENSP00000312189:T649A	T	-	1	0	CPT1B	49356269	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.587000	0.82613	2.192000	0.70111	0.533000	0.62120	ACC		0.547	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	NM_152246		4	156	4	156	---	---	---	---
CXorf38	159013	broad.mit.edu	37	X	40506743	40506743	+	Silent	SNP	G	G	A			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chrX:40506743G>A	ENST00000327877.5	-	1	56	c.30C>T	c.(28-30)ctC>ctT	p.L10L	CXorf38_ENST00000440784.2_Silent_p.L10L|CXorf38_ENST00000378418.2_Silent_p.L10L|CXorf38_ENST00000378421.1_5'UTR|CXorf38_ENST00000378426.1_5'UTR	NM_144970.2	NP_659407.1	Q8TB03	CX038_HUMAN	chromosome X open reading frame 38	10										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	12						CGGCGCAGTTGAGGCGCGCCG	0.672																																						ENST00000327877.5																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	12						c.(28-30)ctC>ctT		chromosome X open reading frame 38							23.0	22.0	22.0					X																	40506743		2189	4271	6460	SO:0001819	synonymous_variant	159013							g.chrX:40506743G>A	AL832829	CCDS14253.1	Xp11	2008-02-05			ENSG00000185753	ENSG00000185753			28589	protein-coding gene	gene with protein product							Standard	NM_144970		Approved	MGC39350	uc004dew.3	Q8TB03	OTTHUMG00000024104	ENST00000327877.5:c.30C>T	X.37:g.40506743G>A						CXorf38_ENST00000378418.2_Silent_p.L10L|CXorf38_ENST00000378421.1_5'UTR|CXorf38_ENST00000378426.1_5'UTR|CXorf38_ENST00000440784.2_Silent_p.L10L	p.L10L	NM_144970.2	NP_659407.1	Q8TB03	CX038_HUMAN			1	56	-			10					B3KW28|D3DWB5|Q5JPF5|Q8N941	Silent	SNP	ENST00000327877.5	37	c.30C>T	CCDS14253.1																																																																																				0.672	CXorf38-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060685.3	NM_144970		13	7	13	7	---	---	---	---
AJAP1	55966	broad.mit.edu	37	1	4772288	4772288	+	Frame_Shift_Del	DEL	C	C	-			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr1:4772288delC	ENST00000378191.4	+	2	739	c.358delC	c.(358-360)cccfs	p.P121fs	AJAP1_ENST00000378190.3_Frame_Shift_Del_p.P121fs	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	121					cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		ACTGGCCAAGCCCCCAGCTGC	0.726																																						ENST00000378191.4																			0				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24						c.(358-360)cccfs		adherens junctions associated protein 1							9.0	9.0	9.0					1																	4772288		2009	3977	5986	SO:0001589	frameshift_variant	55966				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		g.chr1:4772288delC	AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"""transmembrane protein SHREW1"""	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.358delC	1.37:g.4772288delC	ENSP00000367433:p.Pro121fs					AJAP1_ENST00000378190.3_Frame_Shift_Del_p.P121fs	p.P121fs	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)	2	739	+	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)	121					Q9Y229	Frame_Shift_Del	DEL	ENST00000378191.4	37	c.358delC	CCDS54.1																																																																																				0.726	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836		2	4	2	4	---	---	---	---
