#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
GRIK3	2899	broad.mit.edu	37	1	37346388	37346388	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr1:37346388T>G	ENST00000373091.3	-	3	413	c.397A>C	c.(397-399)Atc>Ctc	p.I133L	GRIK3_ENST00000373093.4_Missense_Mutation_p.I133L	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	133					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				CGCAGCTGGATGTGGGGCACC	0.622																																						ENST00000373091.3																			0				breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89						c.(397-399)Atc>Ctc		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						208.0	183.0	191.0					1																	37346388		2203	4300	6503	SO:0001583	missense	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37346388T>G	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.397A>C	1.37:g.37346388T>G	ENSP00000362183:p.Ile133Leu					GRIK3_ENST00000373093.4_Missense_Mutation_p.I133L	p.I133L	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN			3	413	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	133					A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	c.397A>C	CCDS416.1	.	.	.	.	.	.	.	.	.	.	T	13.51	2.259284	0.39995	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	D;D	0.86562	-2.14;-2.14	4.77	4.77	0.60923	Extracellular ligand-binding receptor (1);	0.272270	0.36167	N	0.002750	T	0.81178	0.4768	L	0.31294	0.92	0.45995	D	0.998809	B;B	0.02656	0.0;0.0	B;B	0.24155	0.051;0.051	T	0.76116	-0.3077	10	0.30854	T	0.27	.	14.5839	0.68310	0.0:0.0:0.0:1.0	.	133;133	A9Z1Z8;Q13003	.;GRIK3_HUMAN	L	133	ENSP00000362183:I133L;ENSP00000362185:I133L	ENSP00000362183:I133L	I	-	1	0	GRIK3	37118975	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.521000	0.45563	1.919000	0.55581	0.459000	0.35465	ATC		0.622	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		20	38	20	38	---	---	---	---
NRD1	4898	broad.mit.edu	37	1	52280418	52280418	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr1:52280418C>T	ENST00000354831.7	-	14	1900	c.1711G>A	c.(1711-1713)Gtg>Atg	p.V571M	NRD1_ENST00000544028.1_Missense_Mutation_p.V371M|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000539524.1_Missense_Mutation_p.V439M|NRD1_ENST00000352171.7_Missense_Mutation_p.V503M	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	502					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						ATGCTGAACACTGAATAAGTA	0.353																																						ENST00000354831.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						c.(1711-1713)Gtg>Atg		nardilysin (N-arginine dibasic convertase)							58.0	55.0	56.0					1																	52280418		2203	4300	6503	SO:0001583	missense	4898				cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	g.chr1:52280418C>T	X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.1711G>A	1.37:g.52280418C>T	ENSP00000346890:p.Val571Met					NRD1_ENST00000539524.1_Missense_Mutation_p.V439M|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000352171.7_Missense_Mutation_p.V503M|NRD1_ENST00000544028.1_Missense_Mutation_p.V371M	p.V571M	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN			14	1900	-			502					A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Missense_Mutation	SNP	ENST00000354831.7	37	c.1711G>A	CCDS559.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.248506	0.59103	.	.	ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000539524;ENST00000546169;ENST00000544028	T;T;T;T	0.08896	3.04;3.04;3.04;3.04	5.89	5.89	0.94794	Peptidase M16, C-terminal (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.105830	0.64402	D	0.000005	T	0.17831	0.0428	L	0.37697	1.125	0.44424	D	0.997347	P;P;D	0.62365	0.935;0.947;0.991	P;P;P	0.62435	0.682;0.787;0.902	T	0.00092	-1.2083	10	0.56958	D	0.05	-12.064	13.8722	0.63626	0.0:0.9219:0.0:0.0781	.	503;502;571	F5H6R2;O43847;B1AKJ5	.;NRDC_HUMAN;.	M	503;571;439;503;371	ENSP00000262679:V503M;ENSP00000346890:V571M;ENSP00000444416:V439M;ENSP00000442262:V371M	ENSP00000262679:V503M	V	-	1	0	NRD1	52053006	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.719000	0.54926	2.783000	0.95769	0.655000	0.94253	GTG		0.353	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525		12	18	12	18	---	---	---	---
SLC8A1	6546	broad.mit.edu	37	2	40657386	40657386	+	Missense_Mutation	SNP	G	G	C	rs142661656	byFrequency	TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr2:40657386G>C	ENST00000403092.1	-	2	68	c.35C>G	c.(34-36)aCc>aGc	p.T12S	SLC8A1_ENST00000405269.1_Missense_Mutation_p.T12S|SLC8A1_ENST00000405901.3_Missense_Mutation_p.T12S|SLC8A1_ENST00000406391.2_Missense_Mutation_p.T12S|SLC8A1_ENST00000542756.1_Missense_Mutation_p.T12S|SLC8A1_ENST00000402441.1_Missense_Mutation_p.T12S|SLC8A1_ENST00000542024.1_Missense_Mutation_p.T12S|SLC8A1_ENST00000406785.2_Missense_Mutation_p.T12S|SLC8A1_ENST00000408028.2_Missense_Mutation_p.T12S|SLC8A1_ENST00000332839.4_Missense_Mutation_p.T12S			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	12					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CATTGAAAAGGTGGGTGAAAG	0.408																																						ENST00000406785.2																			0				NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100						c.(34-36)aCc>aGc		solute carrier family 8 (sodium/calcium exchanger), member 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						81.0	77.0	79.0					2																	40657386		2203	4300	6503	SO:0001583	missense	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40657386G>C		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.35C>G	2.37:g.40657386G>C	ENSP00000384763:p.Thr12Ser					SLC8A1_ENST00000332839.4_Missense_Mutation_p.T12S|SLC8A1_ENST00000408028.2_Missense_Mutation_p.T12S|SLC8A1_ENST00000402441.1_Missense_Mutation_p.T12S|SLC8A1_ENST00000403092.1_Missense_Mutation_p.T12S|SLC8A1_ENST00000405269.1_Missense_Mutation_p.T12S|SLC8A1_ENST00000406391.2_Missense_Mutation_p.T12S|SLC8A1_ENST00000542756.1_Missense_Mutation_p.T12S|SLC8A1_ENST00000405901.3_Missense_Mutation_p.T12S|SLC8A1_ENST00000542024.1_Missense_Mutation_p.T12S	p.T12S			P32418	NAC1_HUMAN			2	224	-								A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.35C>G	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	G	1.103	-0.660617	0.03454	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000542640;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024;ENST00000455476;ENST00000448531;ENST00000417271	T;T;T;T;T;T;T;T;T;T	0.26810	1.73;1.75;1.76;1.75;1.73;1.73;1.76;1.71;1.73;1.72	6.04	1.14	0.20703	.	1.003290	0.08019	N	0.991647	T	0.11836	0.0288	N	0.05078	-0.115	0.09310	N	1	B;B;B;B;B	0.11235	0.002;0.004;0.002;0.004;0.002	B;B;B;B;B	0.18561	0.006;0.009;0.006;0.022;0.01	T	0.36553	-0.9743	10	0.27082	T	0.32	.	5.2716	0.15628	0.1947:0.0:0.5455:0.2598	.	12;12;12;12;12	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	S	12	ENSP00000383886:T12S;ENSP00000440727:T12S;ENSP00000384763:T12S;ENSP00000385678:T12S;ENSP00000385188:T12S;ENSP00000385535:T12S;ENSP00000332931:T12S;ENSP00000384908:T12S;ENSP00000385811:T12S;ENSP00000443515:T12S	ENSP00000332931:T12S	T	-	2	0	SLC8A1	40510890	0.186000	0.23225	0.013000	0.15412	0.732000	0.41865	1.034000	0.30204	-0.064000	0.13043	-0.217000	0.12591	ACC		0.408	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		9	30	9	30	---	---	---	---
CNTNAP5	129684	broad.mit.edu	37	2	125281979	125281979	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr2:125281979C>T	ENST00000431078.1	+	9	1788	c.1424C>T	c.(1423-1425)cCa>cTa	p.P475L		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	475	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CCCCCGGCTCCAGACAGCACT	0.483																																						ENST00000431078.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(1423-1425)cCa>cTa		contactin associated protein-like 5							52.0	55.0	54.0					2																	125281979		1965	4179	6144	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125281979C>T	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1424C>T	2.37:g.125281979C>T	ENSP00000399013:p.Pro475Leu						p.P475L	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	9	1788	+			475			Laminin G-like 2.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.1424C>T	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	C	3.574	-0.087090	0.07097	.	.	ENSG00000155052	ENST00000431078	T	0.79454	-1.27	5.95	3.56	0.40772	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.427525	0.19599	N	0.110429	T	0.60064	0.2240	N	0.14661	0.345	0.44736	D	0.997734	B	0.02656	0.0	B	0.06405	0.002	T	0.46373	-0.9196	10	0.19590	T	0.45	.	11.5386	0.50653	0.6514:0.3486:0.0:0.0	.	475	Q8WYK1	CNTP5_HUMAN	L	475	ENSP00000399013:P475L	ENSP00000399013:P475L	P	+	2	0	CNTNAP5	124998449	0.518000	0.26234	0.928000	0.36995	0.010000	0.07245	1.475000	0.35409	0.478000	0.27488	-0.274000	0.10170	CCA		0.483	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			6	27	6	27	---	---	---	---
UBXN4	23190	broad.mit.edu	37	2	136527363	136527363	+	Silent	SNP	G	G	A			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr2:136527363G>A	ENST00000272638.9	+	7	938	c.627G>A	c.(625-627)agG>agA	p.R209R	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	209					response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						TTGAAGAAAGGAGAGAAGAGA	0.303																																						ENST00000272638.9																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						c.(625-627)agG>agA		UBX domain protein 4							156.0	158.0	157.0					2																	136527363		1837	4082	5919	SO:0001819	synonymous_variant	23190				response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding	g.chr2:136527363G>A	D87684	CCDS42761.1	2q21.3-q22.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000144224	ENSG00000144224		"""UBX domain containing"""	14860	protein-coding gene	gene with protein product	"""erasin"""	611216	"""UBX domain-containing 2"", ""UBX domain containing 2"""	UBXDC1, UBXD2		16968747	Standard	NM_014607		Approved	KIAA0242	uc002tur.3	Q92575	OTTHUMG00000153577	ENST00000272638.9:c.627G>A	2.37:g.136527363G>A						UBXN4_ENST00000490163.1_3'UTR	p.R209R	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN			7	938	+			209					A8K9W4|Q4ZG56|Q8IYM5	Silent	SNP	ENST00000272638.9	37	c.627G>A	CCDS42761.1																																																																																				0.303	UBXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331696.1	NM_014607		6	32	6	32	---	---	---	---
GIGYF2	26058	broad.mit.edu	37	2	233677165	233677165	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr2:233677165A>G	ENST00000409547.1	+	20	2382	c.2071A>G	c.(2071-2073)Atc>Gtc	p.I691V	GIGYF2_ENST00000373563.4_Missense_Mutation_p.I691V|GIGYF2_ENST00000409480.1_Missense_Mutation_p.I713V|GIGYF2_ENST00000452341.2_Missense_Mutation_p.I522V|GIGYF2_ENST00000409451.3_Missense_Mutation_p.I712V|GIGYF2_ENST00000373566.3_Missense_Mutation_p.I713V|GIGYF2_ENST00000409196.3_Missense_Mutation_p.I685V	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	691	Gln-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TACTGGCTCTATCTGGGAGCT	0.383																																						ENST00000373566.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63						c.(2137-2139)Atc>Gtc		GRB10 interacting GYF protein 2							73.0	71.0	72.0					2																	233677165		2203	4300	6503	SO:0001583	missense	26058				cell death		protein binding	g.chr2:233677165A>G	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.2071A>G	2.37:g.233677165A>G	ENSP00000386537:p.Ile691Val					GIGYF2_ENST00000409480.1_Missense_Mutation_p.I713V|GIGYF2_ENST00000373563.4_Missense_Mutation_p.I691V|GIGYF2_ENST00000409547.1_Missense_Mutation_p.I691V|GIGYF2_ENST00000452341.2_Missense_Mutation_p.I522V|GIGYF2_ENST00000409196.3_Missense_Mutation_p.I685V|GIGYF2_ENST00000409451.3_Missense_Mutation_p.I712V	p.I713V			Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	19	2334	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	691			Gln-rich.		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Missense_Mutation	SNP	ENST00000409547.1	37	c.2137A>G	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	A	12.32	1.901139	0.33535	.	.	ENSG00000204120	ENST00000373566;ENST00000414511;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000535418;ENST00000423659;ENST00000409196;ENST00000409451;ENST00000440945;ENST00000452341	T;T;T;T;T;T;T;T;T	0.74421	-0.61;-0.58;-0.61;-0.58;-0.79;-0.58;-0.62;-0.84;-0.49	5.28	5.28	0.74379	.	0.126685	0.53938	D	0.000058	T	0.58278	0.2111	N	0.21583	0.68	0.38409	D	0.945874	P;B;B;P	0.35107	0.484;0.179;0.075;0.456	B;B;B;B	0.34452	0.183;0.044;0.028;0.134	T	0.59037	-0.7529	10	0.16896	T	0.51	-9.6479	11.2481	0.49008	0.847:0.1529:0.0:0.0	.	522;712;691;685	E9PC50;A6H8W4;Q6Y7W6;E9PBB0	.;.;PERQ2_HUMAN;.	V	713;634;691;713;691;691;634;685;712;685;522	ENSP00000362667:I713V;ENSP00000362664:I691V;ENSP00000386765:I713V;ENSP00000386537:I691V;ENSP00000404195:I634V;ENSP00000387070:I685V;ENSP00000387170:I712V;ENSP00000410297:I685V;ENSP00000411505:I522V	ENSP00000362664:I691V	I	+	1	0	GIGYF2	233385409	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.387000	0.59626	1.998000	0.58463	0.533000	0.62120	ATC		0.383	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		5	26	5	26	---	---	---	---
XIRP1	165904	broad.mit.edu	37	3	39225934	39225934	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr3:39225934G>A	ENST00000340369.3	-	2	5231	c.5003C>T	c.(5002-5004)tCc>tTc	p.S1668F	XIRP1_ENST00000421646.1_Missense_Mutation_p.S351F|XIRP1_ENST00000396251.1_3'UTR	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1668					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TGTTGGGGAGGAGGGAGAATC	0.537																																						ENST00000340369.3																			0				breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71						c.(5002-5004)tCc>tTc		xin actin-binding repeat containing 1							83.0	88.0	87.0					3																	39225934		2203	4300	6503	SO:0001583	missense	165904						actin binding	g.chr3:39225934G>A	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.5003C>T	3.37:g.39225934G>A	ENSP00000343140:p.Ser1668Phe					XIRP1_ENST00000421646.1_Missense_Mutation_p.S351F|XIRP1_ENST00000396251.1_3'UTR	p.S1668F	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	5231	-			1668					A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	c.5003C>T	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.235519	0.58886	.	.	ENSG00000168334	ENST00000340369;ENST00000421646	T;T	0.35789	3.2;1.29	4.75	1.69	0.24217	.	0.309106	0.30869	U	0.008715	T	0.41026	0.1141	L	0.61218	1.895	0.39922	D	0.974177	D	0.55385	0.971	P	0.51487	0.671	T	0.32161	-0.9917	10	0.48119	T	0.1	.	7.8828	0.29631	0.0915:0.329:0.5794:0.0	.	1668	Q702N8	XIRP1_HUMAN	F	1668;351	ENSP00000343140:S1668F;ENSP00000391645:S351F	ENSP00000343140:S1668F	S	-	2	0	XIRP1	39200938	0.638000	0.27225	0.700000	0.30305	0.914000	0.54420	1.813000	0.38962	0.535000	0.28714	0.655000	0.94253	TCC		0.537	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		13	61	13	61	---	---	---	---
PRSS48	345062	broad.mit.edu	37	4	152212552	152212552	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr4:152212552T>G	ENST00000455694.2	+	5	936	c.934T>G	c.(934-936)Tgc>Ggc	p.C312G	SH3D19_ENST00000604030.1_Intron|PRSS48_ENST00000441586.2_Missense_Mutation_p.C169G	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN	protease, serine, 48	312						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						AGCTGTTGCTTGCATACAGGG	0.498																																						ENST00000455694.2																			0				kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						c.(934-936)Tgc>Ggc		protease, serine, 48							97.0	84.0	88.0					4																	152212552		1956	4161	6117	SO:0001583	missense	345062				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr4:152212552T>G	BN000134	CCDS47145.1	4q31.3	2010-05-07			ENSG00000189099	ENSG00000189099		"""Serine peptidases / Serine peptidases"""	24635	protein-coding gene	gene with protein product						12838346	Standard	NM_183375		Approved	ESSPL	uc011cif.2	Q7RTY5	OTTHUMG00000161673	ENST00000455694.2:c.934T>G	4.37:g.152212552T>G	ENSP00000401328:p.Cys312Gly					PRSS48_ENST00000441586.2_Missense_Mutation_p.C169G|SH3D19_ENST00000604030.1_Intron	p.C312G	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN			5	936	+			312					Q08E82|Q0VAD4	Missense_Mutation	SNP	ENST00000455694.2	37	c.934T>G	CCDS47145.1	.	.	.	.	.	.	.	.	.	.	T	5.945	0.358374	0.11239	.	.	ENSG00000189099	ENST00000455694;ENST00000441586	D;D	0.91521	-2.31;-2.86	3.19	-0.307	0.12777	.	.	.	.	.	T	0.77805	0.4185	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.62320	-0.6879	9	0.30078	T	0.28	.	3.1976	0.06639	0.0:0.4566:0.2523:0.2911	.	169;312	Q7RTY5-3;Q7RTY5	.;PRS48_HUMAN	G	312;169	ENSP00000401328:C312G;ENSP00000401420:C169G	ENSP00000401420:C169G	C	+	1	0	PRSS48	152432002	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.201000	0.09464	-0.053000	0.13289	0.260000	0.18958	TGC		0.498	PRSS48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365685.3	NM_183375		13	23	13	23	---	---	---	---
TCERG1	10915	broad.mit.edu	37	5	145890149	145890149	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr5:145890149C>G	ENST00000296702.5	+	22	3279	c.3241C>G	c.(3241-3243)Cgg>Ggg	p.R1081G	TCERG1_ENST00000394421.2_Missense_Mutation_p.R1060G	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	1081					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTGGATCGCCGGGGTCCACC	0.463																																						ENST00000296702.5																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46						c.(3241-3243)Cgg>Ggg		transcription elongation regulator 1							94.0	89.0	91.0					5																	145890149		2203	4300	6503	SO:0001583	missense	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145890149C>G	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.3241C>G	5.37:g.145890149C>G	ENSP00000296702:p.Arg1081Gly					TCERG1_ENST00000394421.2_Missense_Mutation_p.R1060G	p.R1081G	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		22	3279	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	1081					Q2NKN2|Q59EA1	Missense_Mutation	SNP	ENST00000296702.5	37	c.3241C>G	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.645777	0.47258	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	T;T	0.27720	1.65;1.67	6.16	3.33	0.38152	.	0.050472	0.85682	N	0.000000	T	0.52773	0.1755	M	0.73962	2.25	0.80722	D	1	D;D	0.64830	0.994;0.993	D;D	0.74023	0.976;0.982	T	0.53272	-0.8462	10	0.72032	D	0.01	-14.8187	11.6584	0.51332	0.3563:0.5291:0.1146:0.0	.	1060;1081	O14776-2;O14776	.;TCRG1_HUMAN	G	1081;1060	ENSP00000296702:R1081G;ENSP00000377943:R1060G	ENSP00000296702:R1081G	R	+	1	2	TCERG1	145870342	0.994000	0.37717	1.000000	0.80357	0.953000	0.61014	1.887000	0.39698	0.419000	0.25927	-0.188000	0.12872	CGG		0.463	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		6	30	6	30	---	---	---	---
USP42	84132	broad.mit.edu	37	7	6187373	6187373	+	Silent	SNP	C	C	T			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr7:6187373C>T	ENST00000306177.5	+	12	1394	c.1236C>T	c.(1234-1236)tcC>tcT	p.S412S		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	412	USP.				cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		TTTCCAGGTCCCATGATGTGA	0.517																																						ENST00000306177.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35						c.(1234-1236)tcC>tcT		ubiquitin specific peptidase 42							78.0	79.0	79.0					7																	6187373		1965	4130	6095	SO:0001819	synonymous_variant	84132				cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr7:6187373C>T	AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346		"""Ubiquitin-specific peptidases"""	20068	protein-coding gene	gene with protein product			"""ubiquitin specific protease 42"""			12838346	Standard	NM_032172		Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	ENST00000306177.5:c.1236C>T	7.37:g.6187373C>T							p.S412S	NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)	12	1394	+		Ovarian(82;0.0423)	412					A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Silent	SNP	ENST00000306177.5	37	c.1236C>T	CCDS47535.1																																																																																				0.517	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324262.3	XM_166526		6	26	6	26	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100371059	100371059	+	RNA	SNP	C	C	A			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr7:100371059C>A	ENST00000348028.3	+	0	5742				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGAGTGGAACCTCCTGCGTGC	0.632																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							53.0	58.0	56.0					7																	100371059		2019	4186	6205			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100371059C>A	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100371059C>A						ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	5725	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37																																																																																						0.632	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		13	16	13	16	---	---	---	---
GRM8	2918	broad.mit.edu	37	7	126746596	126746596	+	Nonsense_Mutation	SNP	A	A	T			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr7:126746596A>T	ENST00000339582.2	-	3	1489	c.681T>A	c.(679-681)taT>taA	p.Y227*	GRM8_ENST00000358373.3_Nonsense_Mutation_p.Y227*|GRM8_ENST00000444921.2_Nonsense_Mutation_p.Y227*|GRM8_ENST00000405249.1_Nonsense_Mutation_p.Y227*|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	227					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				CGCTCTCACCATAGTTCCCCT	0.507										HNSCC(24;0.065)																												ENST00000339582.2																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(679-681)taT>taA		glutamate receptor, metabotropic 8	L-Glutamic Acid(DB00142)						125.0	105.0	111.0					7																	126746596		2203	4300	6503	SO:0001587	stop_gained	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126746596A>T		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.681T>A	7.37:g.126746596A>T	ENSP00000344173:p.Tyr227*	HNSCC(24;0.065)				GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000405249.1_Nonsense_Mutation_p.Y227*|GRM8_ENST00000358373.3_Nonsense_Mutation_p.Y227*|GRM8_ENST00000444921.2_Nonsense_Mutation_p.Y227*	p.Y227*			O00222	GRM8_HUMAN			3	1489	-		Prostate(267;0.186)	227					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Nonsense_Mutation	SNP	ENST00000339582.2	37	c.681T>A	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	A	35	5.459733	0.96240	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249;ENST00000457830;ENST00000465844	.	.	.	4.97	-2.7	0.06004	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.5395	0.56161	0.5145:0.0:0.4855:0.0	.	.	.	.	X	227;227;227;227;227;37	.	ENSP00000344173:Y227X	Y	-	3	2	GRM8	126533832	0.879000	0.30193	0.995000	0.50966	0.937000	0.57800	0.053000	0.14184	-0.334000	0.08463	-0.371000	0.07208	TAT		0.507	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			12	26	12	26	---	---	---	---
PIWIL2	55124	broad.mit.edu	37	8	22137065	22137065	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr8:22137065G>A	ENST00000454009.2	+	2	675	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K	PIWIL2_ENST00000521356.1_Missense_Mutation_p.E56K|PIWIL2_ENST00000356766.6_Missense_Mutation_p.E56K	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	56					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		AAAGCCAGAGGAACCAAGCAC	0.562																																						ENST00000356766.6																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(166-168)Gaa>Aaa		piwi-like RNA-mediated gene silencing 2							87.0	89.0	88.0					8																	22137065		2203	4300	6503	SO:0001583	missense	55124				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding	g.chr8:22137065G>A	AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"""Argonaute/PIWI family"""	17644	protein-coding gene	gene with protein product	"""Hiwi-like"", ""cancer/testis antigen 80"""	610312	"""piwi-like 2 (Drosophila)"""			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.166G>A	8.37:g.22137065G>A	ENSP00000406956:p.Glu56Lys					PIWIL2_ENST00000521356.1_Missense_Mutation_p.E56K|PIWIL2_ENST00000454009.2_Missense_Mutation_p.E56K	p.E56K	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN		Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)	2	314	+			56					A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	ENST00000454009.2	37	c.166G>A	CCDS6029.1	.	.	.	.	.	.	.	.	.	.	G	8.353	0.831388	0.16820	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.04758	3.57;3.56;3.57	5.93	4.13	0.48395	.	0.528567	0.18835	N	0.129843	T	0.04227	0.0117	L	0.27053	0.805	0.09310	N	1	B;B	0.20261	0.043;0.043	B;B	0.16722	0.016;0.016	T	0.36529	-0.9744	10	0.54805	T	0.06	-27.6997	8.152	0.31145	0.0835:0.1585:0.758:0.0	.	56;56	E7ECA4;Q8TC59	.;PIWL2_HUMAN	K	56	ENSP00000349208:E56K;ENSP00000428267:E56K;ENSP00000406956:E56K	ENSP00000349208:E56K	E	+	1	0	PIWIL2	22193010	0.966000	0.33281	0.023000	0.16930	0.602000	0.36980	2.969000	0.49232	0.820000	0.34516	0.655000	0.94253	GAA		0.562	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1			11	21	11	21	---	---	---	---
YPEL4	219539	broad.mit.edu	37	11	57413471	57413471	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr11:57413471C>T	ENST00000524669.1	-	5	3089	c.367G>A	c.(367-369)Gac>Aac	p.D123N	YPEL4_ENST00000534711.1_Missense_Mutation_p.D123N|YPEL4_ENST00000544993.1_Missense_Mutation_p.D123N|AP000662.4_ENST00000530595.1_RNA|YPEL4_ENST00000300022.3_Missense_Mutation_p.D123N|YPEL4_ENST00000531442.1_5'Flank			Q96NS1	YPEL4_HUMAN	yippee-like 4 (Drosophila)	123						nucleus (GO:0005634)				lung(2)|skin(1)	3						CAGCCGTTGTCCTTCACCATG	0.547																																						ENST00000524669.1																			0				lung(2)|skin(1)	3						c.(367-369)Gac>Aac		yippee-like 4 (Drosophila)							179.0	134.0	149.0					11																	57413471		2201	4296	6497	SO:0001583	missense	219539					nucleolus		g.chr11:57413471C>T	AK054775	CCDS7963.1	11q12	2008-02-05				ENSG00000166793			18328	protein-coding gene	gene with protein product		609725					Standard	NM_145008		Approved	FLJ30213	uc001nkv.4	Q96NS1		ENST00000524669.1:c.367G>A	11.37:g.57413471C>T	ENSP00000432648:p.Asp123Asn					AP000662.4_ENST00000530595.1_RNA|YPEL4_ENST00000300022.3_Missense_Mutation_p.D123N|YPEL4_ENST00000544993.1_Missense_Mutation_p.D123N|YPEL4_ENST00000534711.1_Missense_Mutation_p.D123N	p.D123N			Q96NS1	YPEL4_HUMAN			5	3089	-			123					B3KW92|Q2M3U7|Q65Z98	Missense_Mutation	SNP	ENST00000524669.1	37	c.367G>A	CCDS7963.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.509516	0.85282	.	.	ENSG00000166793	ENST00000524669;ENST00000300022;ENST00000544993;ENST00000534711	.	.	.	5.42	5.42	0.78866	.	0.078023	0.53938	D	0.000041	T	0.67599	0.2910	M	0.62723	1.935	0.80722	D	1	B	0.13145	0.007	B	0.24006	0.05	T	0.63225	-0.6685	9	0.38643	T	0.18	-2.2026	18.8187	0.92088	0.0:1.0:0.0:0.0	.	123	Q96NS1	YPEL4_HUMAN	N	123	.	ENSP00000300022:D123N	D	-	1	0	YPEL4	57170047	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.560000	0.82277	2.544000	0.85801	0.561000	0.74099	GAC		0.547	YPEL4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393370.1	NM_145008		22	33	22	33	---	---	---	---
ARHGEF17	9828	broad.mit.edu	37	11	73020726	73020726	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr11:73020726C>T	ENST00000263674.3	+	1	1393	c.1043C>T	c.(1042-1044)tCt>tTt	p.S348F	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	348					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GGTAGTGGCTCTCCGCCCTGC	0.612																																						ENST00000263674.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						c.(1042-1044)tCt>tTt		Rho guanine nucleotide exchange factor (GEF) 17							48.0	48.0	48.0					11																	73020726		2164	4230	6394	SO:0001583	missense	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73020726C>T	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.1043C>T	11.37:g.73020726C>T	ENSP00000263674:p.Ser348Phe						p.S348F	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN			1	1393	+			348					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	37	c.1043C>T	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	C	10.98	1.503390	0.26949	.	.	ENSG00000110237	ENST00000263674	T	0.58210	0.35	4.85	-0.126	0.13515	.	0.722722	0.11443	N	0.563607	T	0.31670	0.0804	N	0.19112	0.55	0.09310	N	1	B	0.25169	0.119	B	0.21917	0.037	T	0.26503	-1.0101	10	0.72032	D	0.01	0.093	3.8394	0.08908	0.3167:0.4554:0.0:0.2279	.	348	Q96PE2	ARHGH_HUMAN	F	348	ENSP00000263674:S348F	ENSP00000263674:S348F	S	+	2	0	ARHGEF17	72698374	0.000000	0.05858	0.013000	0.15412	0.838000	0.47535	0.084000	0.14891	0.453000	0.26858	0.462000	0.41574	TCT		0.612	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		21	39	21	39	---	---	---	---
TM7SF3	51768	broad.mit.edu	37	12	27143491	27143491	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr12:27143491A>G	ENST00000343028.4	-	6	985	c.760T>C	c.(760-762)Tac>Cac	p.Y254H	TM7SF3_ENST00000542667.1_Intron	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	254						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					ATGACATTGTATATGACACCT	0.453																																						ENST00000343028.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(760-762)Tac>Cac		transmembrane 7 superfamily member 3							137.0	123.0	128.0					12																	27143491		2203	4300	6503	SO:0001583	missense	51768					integral to membrane|plasma membrane		g.chr12:27143491A>G	AB032470	CCDS8710.1	12q11-q12	2012-08-10			ENSG00000064115	ENSG00000064115			23049	protein-coding gene	gene with protein product		605181				10828615	Standard	NM_016551		Approved		uc010sjl.2	Q9NS93	OTTHUMG00000169243	ENST00000343028.4:c.760T>C	12.37:g.27143491A>G	ENSP00000342322:p.Tyr254His					TM7SF3_ENST00000542667.1_Intron	p.Y254H	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN			6	985	-	Colorectal(261;0.0847)		254					B3KMZ3|Q9NUS4	Missense_Mutation	SNP	ENST00000343028.4	37	c.760T>C	CCDS8710.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.354529	0.82243	.	.	ENSG00000064115	ENST00000343028;ENST00000543655;ENST00000535819	T;T;T	0.63255	0.3;-0.03;-0.03	5.0	5.0	0.66597	.	0.060871	0.64402	D	0.000002	T	0.77452	0.4132	M	0.77103	2.36	0.51767	D	0.999932	D	0.71674	0.998	D	0.65573	0.936	T	0.78560	-0.2157	10	0.41790	T	0.15	-15.5825	15.0064	0.71516	1.0:0.0:0.0:0.0	.	254	Q9NS93	TM7S3_HUMAN	H	254;45;45	ENSP00000342322:Y254H;ENSP00000441924:Y45H;ENSP00000445156:Y45H	ENSP00000342322:Y254H	Y	-	1	0	TM7SF3	27034758	1.000000	0.71417	0.988000	0.46212	0.935000	0.57460	8.369000	0.90118	2.006000	0.58801	0.477000	0.44152	TAC		0.453	TM7SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403033.1	NM_016551		7	52	7	52	---	---	---	---
SLC16A7	9194	broad.mit.edu	37	12	60173227	60173227	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr12:60173227G>A	ENST00000261187.4	+	5	1368	c.1204G>A	c.(1204-1206)Gaa>Aaa	p.E402K	SLC16A7_ENST00000552024.1_Missense_Mutation_p.E402K|SLC16A7_ENST00000547379.1_Missense_Mutation_p.E402K|SLC16A7_ENST00000552432.1_Missense_Mutation_p.E402K|SLC16A7_ENST00000543448.1_Missense_Mutation_p.E303K	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	402					lactate transmembrane transport (GO:0035873)|pyruvate transmembrane transport (GO:1901475)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	lactate transmembrane transporter activity (GO:0015129)|pyruvate secondary active transmembrane transporter activity (GO:0005477)|pyruvate transmembrane transporter activity (GO:0050833)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)	p.E402*(1)		endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Gamma Hydroxybutyric Acid(DB01440)|Niflumic Acid(DB04552)|Probenecid(DB01032)|Pyruvic acid(DB00119)	TTTAACTGGAGAATATAAATA	0.343																																						ENST00000261187.4																			1	Substitution - Nonsense(1)	p.E402*(1)	large_intestine(1)	endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30						c.(1204-1206)Gaa>Aaa		solute carrier family 16 (monocarboxylate transporter), member 7	Pyruvic acid(DB00119)						63.0	62.0	62.0					12																	60173227		2203	4299	6502	SO:0001583	missense	9194					integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr12:60173227G>A	AF049608	CCDS8961.1	12q14.1	2013-07-18	2013-07-18		ENSG00000118596	ENSG00000118596		"""Solute carriers"""	10928	protein-coding gene	gene with protein product		603654	"""solute carrier family 16 (monocarboxylic acid transporters), member 7"""			9786900	Standard	NM_004731		Approved	MCT2	uc001sqt.4	O60669	OTTHUMG00000169923	ENST00000261187.4:c.1204G>A	12.37:g.60173227G>A	ENSP00000261187:p.Glu402Lys					SLC16A7_ENST00000547379.1_Missense_Mutation_p.E402K|SLC16A7_ENST00000552432.1_Missense_Mutation_p.E402K|SLC16A7_ENST00000552024.1_Missense_Mutation_p.E402K|SLC16A7_ENST00000543448.1_Missense_Mutation_p.E303K	p.E402K	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN		GBM - Glioblastoma multiforme(3;0.0303)	5	1368	+			402					Q8NEM3|Q9UPB3	Missense_Mutation	SNP	ENST00000261187.4	37	c.1204G>A	CCDS8961.1	.	.	.	.	.	.	.	.	.	.	G	6.642	0.486870	0.12641	.	.	ENSG00000118596	ENST00000552432;ENST00000547379;ENST00000552024;ENST00000548610;ENST00000261187;ENST00000543448	T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0	5.26	-1.49	0.08718	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.887802	0.10229	N	0.699879	T	0.21145	0.0509	N	0.12746	0.255	0.22001	N	0.999428	B	0.09022	0.002	B	0.08055	0.003	T	0.25537	-1.0129	9	.	.	.	.	8.5263	0.33307	0.1956:0.3532:0.4512:0.0	.	402	O60669	MOT2_HUMAN	K	402;402;402;402;402;303	ENSP00000449547:E402K;ENSP00000448071:E402K;ENSP00000448742:E402K;ENSP00000446722:E402K;ENSP00000261187:E402K;ENSP00000443731:E303K	.	E	+	1	0	SLC16A7	58459494	1.000000	0.71417	0.000000	0.03702	0.061000	0.15899	1.580000	0.36547	-0.546000	0.06216	0.591000	0.81541	GAA		0.343	SLC16A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406587.1	NM_004731		13	30	13	30	---	---	---	---
SOX1	6656	broad.mit.edu	37	13	112722311	112722311	+	Silent	SNP	G	G	A			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr13:112722311G>A	ENST00000330949.1	+	1	399	c.339G>A	c.(337-339)aaG>aaA	p.K113K		NM_005986.2	NP_005977.2	O00570	SOX1_HUMAN	SRY (sex determining region Y)-box 1	113					chromatin organization (GO:0006325)|forebrain neuron development (GO:0021884)|lens morphogenesis in camera-type eye (GO:0002089)|neuron migration (GO:0001764)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(4)	4	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)		OV - Ovarian serous cystadenocarcinoma(48;0.132)		TGCACATGAAGGAGCACCCGG	0.677																																						ENST00000330949.1																			0				lung(4)	4						c.(337-339)aaG>aaA		SRY (sex determining region Y)-box 1							38.0	42.0	40.0					13																	112722311		2203	4300	6503	SO:0001819	synonymous_variant	6656				chromatin organization	nucleus	core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:112722311G>A		CCDS9523.1	13q34	2008-07-18			ENSG00000182968	ENSG00000182968		"""SRY (sex determining region Y)-boxes"""	11189	protein-coding gene	gene with protein product	"""SRY-related HMG-box gene 1"""	602148				9337405	Standard	NM_005986		Approved		uc001vsb.1	O00570	OTTHUMG00000017362	ENST00000330949.1:c.339G>A	13.37:g.112722311G>A							p.K113K	NM_005986.2	NP_005977.2	O00570	SOX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(48;0.132)	1	399	+	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)	113					Q5W0Q1	Silent	SNP	ENST00000330949.1	37	c.339G>A	CCDS9523.1																																																																																				0.677	SOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045817.3	NM_005986		5	26	5	26	---	---	---	---
PLA2G4E	123745	broad.mit.edu	37	15	42279575	42279575	+	Splice_Site	SNP	T	T	G			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr15:42279575T>G	ENST00000399518.3	-	17	2318		c.e17-2		CTD-2382E5.1_ENST00000499478.2_RNA|PLA2G4E_ENST00000413860.2_Splice_Site	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE						glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		GCTCGTCTTCTGCAGGGGAGG	0.577																																						ENST00000399518.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16						c.e17-2		phospholipase A2, group IVE							45.0	47.0	46.0					15																	42279575		1959	4137	6096	SO:0001630	splice_region_variant	123745				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42279575T>G		CCDS55962.1	15q15.1	2008-09-19			ENSG00000188089	ENSG00000188089	3.1.1.4		24791	protein-coding gene	gene with protein product						15866882	Standard	NM_001206670		Approved	FLJ45651	uc021sjp.1	Q3MJ16	OTTHUMG00000130371	ENST00000399518.3:c.1832-2A>C	15.37:g.42279575T>G						PLA2G4E_ENST00000413860.2_Splice_Site|CTD-2382E5.1_ENST00000499478.2_RNA		NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)	17	2318	-		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)						Q6ZSC0	Splice_Site	SNP	ENST00000399518.3	37		CCDS55962.1	.	.	.	.	.	.	.	.	.	.	T	13.28	2.188815	0.38609	.	.	ENSG00000188089	ENST00000399518;ENST00000413860	.	.	.	5.77	4.63	0.57726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.041	0.42158	0.1504:0.0:0.0:0.8496	.	.	.	.	.	-1	.	.	.	-	.	.	PLA2G4E	40066867	1.000000	0.71417	0.999000	0.59377	0.463000	0.32649	4.734000	0.62043	0.984000	0.38629	0.529000	0.55759	.		0.577	PLA2G4E-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252738.2	NM_198442	Intron	4	12	4	12	---	---	---	---
RGS9BP	388531	broad.mit.edu	37	19	33167292	33167292	+	Silent	SNP	A	A	G			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr19:33167292A>G	ENST00000334176.3	+	1	980	c.123A>G	c.(121-123)caA>caG	p.Q41Q	ANKRD27_ENST00000306065.4_5'Flank|ANKRD27_ENST00000587352.1_5'Flank	NM_207391.2	NP_997274.2	Q6ZS82	R9BP_HUMAN	regulator of G protein signaling 9 binding protein	41					detection of light stimulus involved in visual perception (GO:0050908)|negative regulation of signal transduction (GO:0009968)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	integral component of membrane (GO:0016021)				central_nervous_system(1)|lung(2)	3	Esophageal squamous(110;0.137)					AGGAGCTGCAAAAGACGCGCC	0.706																																						ENST00000334176.3																			0				central_nervous_system(1)|lung(2)	3						c.(121-123)caA>caG		regulator of G protein signaling 9 binding protein							19.0	17.0	17.0					19																	33167292		2163	4246	6409	SO:0001819	synonymous_variant	388531				negative regulation of signal transduction	integral to membrane		g.chr19:33167292A>G	AW302149	CCDS12424.1	19q13.11	2008-02-05	2007-08-14			ENSG00000186326			30304	protein-coding gene	gene with protein product		607814	"""regulator of G protein signalling 9 binding protein"""			12119397, 8889548	Standard	NM_207391		Approved	FLJ45744, PERRS, R9AP, RGS9	uc002ntp.1	Q6ZS82		ENST00000334176.3:c.123A>G	19.37:g.33167292A>G							p.Q41Q	NM_207391.2	NP_997274.2	Q6ZS82	R9BP_HUMAN			1	980	+	Esophageal squamous(110;0.137)		41					Q6ZVJ6	Silent	SNP	ENST00000334176.3	37	c.123A>G	CCDS12424.1																																																																																				0.706	RGS9BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450337.1	NM_207391		7	13	7	13	---	---	---	---
CYP2B6	1555	broad.mit.edu	37	19	41510021	41510021	+	Missense_Mutation	SNP	C	C	A	rs144760726	byFrequency	TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr19:41510021C>A	ENST00000324071.4	+	2	294	c.287C>A	c.(286-288)tCt>tAt	p.S96Y	CYP2B6_ENST00000598834.1_3'UTR|CYP2B6_ENST00000330446.5_Missense_Mutation_p.S56Y|CYP2B6_ENST00000593831.1_Missense_Mutation_p.S20Y	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	96					cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	GAGGCCTTCTCTGGCCGGGGA	0.637																																						ENST00000324071.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(286-288)tCt>tAt		cytochrome P450, family 2, subfamily B, polypeptide 6	Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)						82.0	83.0	83.0					19																	41510021		2203	4300	6503	SO:0001583	missense	1555				cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41510021C>A	AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"""Cytochrome P450s"""	2615	protein-coding gene	gene with protein product		123930	"""cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6"", ""cytochrome P450, family 2, subfamily B"", ""cytochrome P450, subfamily IIB (phenobarbital-inducible)"""	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.287C>A	19.37:g.41510021C>A	ENSP00000324648:p.Ser96Tyr					CYP2B6_ENST00000593831.1_Missense_Mutation_p.S20Y|CYP2B6_ENST00000330446.5_Missense_Mutation_p.S56Y|CYP2B6_ENST00000598834.1_3'UTR	p.S96Y	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.00322)		2	294	+			96					B4DWP3|Q2V565|Q9UK46	Missense_Mutation	SNP	ENST00000324071.4	37	c.287C>A	CCDS12570.1	.	.	.	.	.	.	.	.	.	.	.	17.83	3.485663	0.63962	.	.	ENSG00000197408	ENST00000324071;ENST00000330446	T;T	0.71103	-0.54;-0.54	4.15	1.79	0.24919	.	0.525989	0.19979	N	0.101816	D	0.87378	0.6162	H	0.96015	3.755	0.23923	N	0.996458	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	T	0.78425	-0.2209	10	0.87932	D	0	.	11.2857	0.49220	0.0:0.4851:0.5149:0.0	.	56;96	B4DWP3;P20813	.;CP2B6_HUMAN	Y	96;56	ENSP00000324648:S96Y;ENSP00000330650:S56Y	ENSP00000324648:S96Y	S	+	2	0	CYP2B6	46201861	0.001000	0.12720	0.793000	0.32043	0.362000	0.29581	0.014000	0.13333	0.973000	0.38340	0.472000	0.43445	TCT		0.637	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463260.1	NM_000767		10	49	10	49	---	---	---	---
PCSK2	5126	broad.mit.edu	37	20	17207956	17207956	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr20:17207956G>C	ENST00000262545.2	+	1	321	c.6G>C	c.(4-6)aaG>aaC	p.K2N	PCSK2_ENST00000377899.1_Intron|PCSK2_ENST00000536609.1_Missense_Mutation_p.K2N	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	2					cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GAAGGATGAAGGGTGGTTGTG	0.532																																						ENST00000262545.2																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(4-6)aaG>aaC		proprotein convertase subtilisin/kexin type 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						77.0	82.0	80.0					20																	17207956		2203	4300	6503	SO:0001583	missense	5126				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	g.chr20:17207956G>C	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"""neuroendocrine convertase 2"", ""KEX2-like endoprotease 2"""	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.6G>C	20.37:g.17207956G>C	ENSP00000262545:p.Lys2Asn					PCSK2_ENST00000377899.1_Intron|PCSK2_ENST00000536609.1_Missense_Mutation_p.K2N	p.K2N	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN			1	321	+			2					B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Missense_Mutation	SNP	ENST00000262545.2	37	c.6G>C	CCDS13125.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.067639	0.36470	.	.	ENSG00000125851	ENST00000262545;ENST00000536609	T;T	0.73152	-0.45;-0.72	5.4	4.41	0.53225	.	1.022020	0.07850	U	0.964429	T	0.50154	0.1599	N	0.08118	0	0.23661	N	0.997176	B;B	0.27498	0.032;0.18	B;B	0.24974	0.018;0.057	T	0.41698	-0.9494	10	0.40728	T	0.16	-9.7843	6.2245	0.20700	0.1823:0.0:0.8177:0.0	.	2;2	B4DFQ3;P16519	.;NEC2_HUMAN	N	2	ENSP00000262545:K2N;ENSP00000437458:K2N	ENSP00000262545:K2N	K	+	3	2	PCSK2	17155956	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.125000	0.50469	1.127000	0.42034	0.655000	0.94253	AAG		0.532	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594		9	38	9	38	---	---	---	---
BPIFB4	149954	broad.mit.edu	37	20	31680313	31680313	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr20:31680313G>T	ENST00000375483.3	+	9	1193	c.1193G>T	c.(1192-1194)tGg>tTg	p.W398L		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	398						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										CCATTGGGGTGGCCAGCTGTG	0.597																																						ENST00000375483.3																			0											c.(1192-1194)tGg>tTg		BPI fold containing family B, member 4							60.0	54.0	56.0					20																	31680313		2203	4300	6503	SO:0001583	missense	149954					cytoplasm|extracellular region	lipid binding	g.chr20:31680313G>T	AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"""BPI fold containing"""	16179	protein-coding gene	gene with protein product		615718	"""chromosome 20 open reading frame 186"""	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.1193G>T	20.37:g.31680313G>T	ENSP00000364632:p.Trp398Leu						p.W398L	NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN			9	1193	+			398					Q5TDX6	Missense_Mutation	SNP	ENST00000375483.3	37	c.1193G>T	CCDS13213.2	.	.	.	.	.	.	.	.	.	.	G	5.767	0.325964	0.10900	.	.	ENSG00000186191	ENST00000375483	T	0.06449	3.3	5.35	5.35	0.76521	.	0.547984	0.18507	N	0.139164	T	0.04182	0.0116	N	0.08118	0	0.25229	N	0.989843	B	0.17465	0.022	B	0.16722	0.016	T	0.42481	-0.9449	9	.	.	.	-7.3379	14.9864	0.71351	0.0:0.0:1.0:0.0	.	398	P59827	BPIB4_HUMAN	L	398	ENSP00000364632:W398L	.	W	+	2	0	BPIFB4	31143974	0.687000	0.27671	1.000000	0.80357	0.050000	0.14768	2.029000	0.41098	2.676000	0.91093	0.543000	0.68304	TGG		0.597	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	NM_182519		9	17	9	17	---	---	---	---
TMEM31	203562	broad.mit.edu	37	X	102968708	102968708	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chrX:102968708T>A	ENST00000319560.6	+	3	480	c.289T>A	c.(289-291)Ttt>Att	p.F97I	GLRA4_ENST00000372617.4_Intron	NM_182541.2	NP_872347.2	Q5JXX7	TMM31_HUMAN	transmembrane protein 31	97						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)	7						TTATCCTGAATTTCTTCTGGT	0.463																																						ENST00000319560.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)	7						c.(289-291)Ttt>Att		transmembrane protein 31							246.0	196.0	213.0					X																	102968708		2203	4300	6503	SO:0001583	missense	203562					integral to membrane		g.chrX:102968708T>A	BC029575	CCDS35359.1	Xq22.2	2008-02-05			ENSG00000179363	ENSG00000179363			28601	protein-coding gene	gene with protein product						12477932	Standard	NM_182541		Approved	MGC39655	uc004elh.3	Q5JXX7	OTTHUMG00000022109	ENST00000319560.6:c.289T>A	X.37:g.102968708T>A	ENSP00000316940:p.Phe97Ile					GLRA4_ENST00000372617.4_Intron	p.F97I	NM_182541.2	NP_872347.2	Q5JXX7	TMM31_HUMAN			3	480	+			97					Q8NHR4	Missense_Mutation	SNP	ENST00000319560.6	37	c.289T>A	CCDS35359.1	.	.	.	.	.	.	.	.	.	.	T	8.904	0.957011	0.18507	.	.	ENSG00000179363	ENST00000319560	.	.	.	4.69	0.51	0.16983	.	0.427699	0.17482	N	0.172690	T	0.15262	0.0368	N	0.08118	0	0.09310	N	0.999997	B	0.29432	0.244	B	0.24848	0.056	T	0.14090	-1.0485	9	0.87932	D	0	-0.8495	4.2041	0.10480	0.3732:0.0:0.1794:0.4475	.	97	Q5JXX7	TMM31_HUMAN	I	97	.	ENSP00000316940:F97I	F	+	1	0	TMEM31	102855364	0.001000	0.12720	0.022000	0.16811	0.036000	0.12997	-0.147000	0.10234	-0.104000	0.12154	0.481000	0.45027	TTT		0.463	TMEM31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057741.1	NM_182541		18	34	18	34	---	---	---	---
MYOF	26509	broad.mit.edu	37	10	95072931	95072931	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr10:95072931delG	ENST00000359263.4	-	51	5734	c.5735delC	c.(5734-5736)cctfs	p.P1912fs	MYOF_ENST00000371502.4_Frame_Shift_Del_p.P1902fs|MYOF_ENST00000358334.5_Frame_Shift_Del_p.P1899fs|MYOF_ENST00000371501.4_Frame_Shift_Del_p.P1912fs	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1912					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGATTTTGCAGGAATGATCGT	0.468																																						ENST00000371501.4																			0				NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(5734-5736)cctfs		myoferlin							182.0	177.0	178.0					10																	95072931		1977	4167	6144	SO:0001589	frameshift_variant	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95072931delG	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.5735delC	10.37:g.95072931delG	ENSP00000352208:p.Pro1912fs					MYOF_ENST00000371502.4_Frame_Shift_Del_p.P1902fs|MYOF_ENST00000358334.5_Frame_Shift_Del_p.P1899fs|MYOF_ENST00000359263.4_Frame_Shift_Del_p.P1912fs	p.P1912fs			Q9NZM1	MYOF_HUMAN			51	5857	-			1912					B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Frame_Shift_Del	DEL	ENST00000359263.4	37	c.5735delC	CCDS41551.1																																																																																				0.468	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		71	63	71	63	---	---	---	---
ANKRD13A	88455	broad.mit.edu	37	12	110475354	110475354	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr12:110475354delA	ENST00000261739.4	+	15	1934	c.1768delA	c.(1768-1770)aaafs	p.K590fs	C12orf76_ENST00000546651.2_Intron	NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	590						endosome (GO:0005768)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						ACTCACTGACAAATAGACCTT	0.572																																						ENST00000261739.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						c.(1768-1770)aaafs		ankyrin repeat domain 13A							37.0	38.0	38.0					12																	110475354		2203	4300	6503	SO:0001589	frameshift_variant	88455							g.chr12:110475354delA	AF064604	CCDS9140.1	12q24.12	2013-01-10	2006-06-30	2006-06-30		ENSG00000076513		"""Ankyrin repeat domain containing"""	21268	protein-coding gene	gene with protein product		615123	"""ankyrin repeat domain 13"""	ANKRD13		10508479	Standard	NM_033121		Approved	NY-REN-25	uc001tpx.3	Q8IZ07	OTTHUMG00000169314	ENST00000261739.4:c.1768delA	12.37:g.110475354delA	ENSP00000261739:p.Lys590fs					C12orf76_ENST00000546651.2_Intron	p.K590fs	NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN			15	1934	+			590					O60736	Frame_Shift_Del	DEL	ENST00000261739.4	37	c.1768delA	CCDS9140.1																																																																																				0.572	ANKRD13A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403430.1	NM_033121		11	12	11	12	---	---	---	---
