#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SPATA31C1	441452	broad.mit.edu	37	9	90535283	90535283	+	RNA	SNP	T	T	C			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr9:90535283T>C	ENST00000602681.1	+	0	1187							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CATGAGCCTATGGAAGATGCT	0.582																																						ENST00000602681.1																			0																				108.0	115.0	113.0					9																	90535283		692	1591	2283			0							g.chr9:90535283T>C	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"""family with sequence similarity 75, member C1"""	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90535283T>C														0	1187	+									RNA	SNP	ENST00000602681.1	37																																																																																						0.582	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		5	298	0	0	0	1	0	5	298				
KIAA0754	643314	broad.mit.edu	37	1	39879328	39879328	+	Missense_Mutation	SNP	G	G	A	rs200402688		TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr1:39879328G>A	ENST00000530275.1	+	1	3178	c.2983G>A	c.(2983-2985)Gcc>Acc	p.A995T	MACF1_ENST00000567887.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	995	Ala-rich.									central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAGGAGCCCGCCTCCCCAGC	0.711																																						ENST00000530275.1																			0				central_nervous_system(1)|large_intestine(6)|skin(1)	8						c.(2983-2985)Gcc>Acc		KIAA0754							6.0	9.0	8.0					1																	39879328		1762	3989	5751	SO:0001583	missense	643314							g.chr1:39879328G>A			1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.2983G>A	1.37:g.39879328G>A	ENSP00000431179:p.Ala995Thr					MACF1_ENST00000564288.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000317713.7_Intron	p.A995T	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	3178	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	995			Ala-rich.		E9PMC2|Q6ZSB2	Missense_Mutation	SNP	ENST00000530275.1	37	c.2983G>A		.	.	.	.	.	.	.	.	.	.	g	8.525	0.869593	0.17322	.	.	ENSG00000255103	ENST00000530275	T	0.24723	1.84	4.35	2.3	0.28687	.	.	.	.	.	T	0.11281	0.0275	N	0.14661	0.345	0.09310	N	1	P	0.37441	0.595	B	0.33392	0.163	T	0.20140	-1.0284	9	0.13108	T	0.6	.	6.1256	0.20177	0.3518:0.0:0.6482:0.0	.	995	O94854	K0754_HUMAN	T	995	ENSP00000431179:A995T	ENSP00000431179:A995T	A	+	1	0	RP4-562N20.1	39651915	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-0.889000	0.04144	0.509000	0.28195	0.498000	0.49722	GCC		0.711	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038		3	15	0	0	0	1	0	3	15				
IL10RA	3587	broad.mit.edu	37	11	117864125	117864125	+	Splice_Site	SNP	G	G	A			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr11:117864125G>A	ENST00000227752.3	+	4	657	c.537G>A	c.(535-537)acG>acA	p.T179T	IL10RA_ENST00000545409.1_Splice_Site_p.T30T|IL10RA_ENST00000541785.1_Splice_Site_p.T159T|IL10RA_ENST00000533700.1_3'UTR	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	179					cytokine-mediated signaling pathway (GO:0019221)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-10 receptor activity (GO:0004920)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)	p.T179T(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		GAAACTTCACGGTATGGGGTT	0.562																																						ENST00000227752.3																			1	Substitution - coding silent(1)	p.T179T(1)	prostate(1)	NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19						c.e4+1		interleukin 10 receptor, alpha							59.0	55.0	57.0					11																	117864125		2200	4296	6496	SO:0001630	splice_region_variant	3587					integral to membrane|plasma membrane	interleukin-10 receptor activity	g.chr11:117864125G>A	U00672	CCDS8388.1	11q23	2014-09-17			ENSG00000110324	ENSG00000110324		"""Interleukins and interleukin receptors"", ""CD molecules"""	5964	protein-coding gene	gene with protein product		146933		IL10R		8120391	Standard	NR_026691		Approved	HIL-10R, CDW210A, CD210a, CD210	uc001prv.3	Q13651	OTTHUMG00000166523	ENST00000227752.3:c.537+1G>A	11.37:g.117864125G>A						IL10RA_ENST00000545409.1_Splice_Site_p.T30_splice|IL10RA_ENST00000533700.1_3'UTR|IL10RA_ENST00000541785.1_Splice_Site_p.T159_splice	p.T179_splice	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)	4	657	+	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	179					A8K6I0|B0YJ27	Splice_Site	SNP	ENST00000227752.3	37	c.537_splice	CCDS8388.1																																																																																				0.562	IL10RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390167.1		Silent	3	83	0	0	0	1	0	3	83				
NLRC4	58484	broad.mit.edu	37	2	32475161	32475161	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr2:32475161A>T	ENST00000404025.2	-	5	2260	c.1772T>A	c.(1771-1773)aTc>aAc	p.I591N	NLRC4_ENST00000360906.5_Missense_Mutation_p.I591N|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Missense_Mutation_p.I591N			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	591					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)	p.I591N(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GTAATCGGGGATGTTCCCTGA	0.408																																						ENST00000404025.2																			1	Substitution - Missense(1)	p.I591N(1)	prostate(1)	breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16						c.(1771-1773)aTc>aAc		NLR family, CARD domain containing 4							100.0	101.0	100.0					2																	32475161		2203	4300	6503	SO:0001583	missense	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32475161A>T	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.1772T>A	2.37:g.32475161A>T	ENSP00000385090:p.Ile591Asn					NLRC4_ENST00000402280.1_Missense_Mutation_p.I591N|NLRC4_ENST00000360906.5_Missense_Mutation_p.I591N|NLRC4_ENST00000342905.6_Intron	p.I591N			Q9NPP4	NLRC4_HUMAN			5	2260	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		591					A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	ENST00000404025.2	37	c.1772T>A	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	A	13.45	2.241214	0.39598	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	T;T;T	0.56941	0.43;0.43;0.43	3.0	3.0	0.34707	.	0.000000	0.48767	D	0.000179	T	0.56673	0.2001	L	0.29908	0.895	0.34671	D	0.723666	D	0.71674	0.998	D	0.79784	0.993	T	0.64487	-0.6396	9	0.37606	T	0.19	.	11.0424	0.47838	1.0:0.0:0.0:0.0	.	591	Q9NPP4	NLRC4_HUMAN	N	591	ENSP00000354159:I591N;ENSP00000385428:I591N;ENSP00000385090:I591N	ENSP00000354159:I591N	I	-	2	0	NLRC4	32328665	1.000000	0.71417	1.000000	0.80357	0.537000	0.34900	3.257000	0.51500	1.632000	0.50472	0.443000	0.29094	ATC		0.408	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		6	245	0	0	0	1	0	6	245				
RAE1	8480	broad.mit.edu	37	20	55948583	55948583	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr20:55948583C>T	ENST00000395841.2	+	9	1115	c.695C>T	c.(694-696)gCc>gTc	p.A232V	RAE1_ENST00000371242.2_Missense_Mutation_p.A232V|RAE1_ENST00000527947.1_Missense_Mutation_p.A232V|RAE1_ENST00000395840.2_Missense_Mutation_p.A232V	NM_003610.3	NP_003601.1	P78406	RAE1L_HUMAN	ribonucleic acid export 1	232					carbohydrate metabolic process (GO:0005975)|cellular response to organic cyclic compound (GO:0071407)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|nuclear pore (GO:0005643)|nucleolus (GO:0005730)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|RNA binding (GO:0003723)	p.A232V(1)		breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			ACTGGTTTTGCCCTGGGAAGT	0.398																																						ENST00000395841.2																			1	Substitution - Missense(1)	p.A232V(1)	prostate(1)	breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21						c.(694-696)gCc>gTc		ribonucleic acid export 1							119.0	119.0	119.0					20																	55948583		2203	4300	6503	SO:0001583	missense	8480				carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore	microtubule binding|RNA binding	g.chr20:55948583C>T	U84720	CCDS13458.1	20q13.31	2013-08-28	2013-08-28		ENSG00000101146	ENSG00000101146		"""WD repeat domain containing"""	9828	protein-coding gene	gene with protein product		603343	"""RAE1 (RNA export 1, S.pombe) homolog"", ""RAE1 RNA export 1 homolog (S. pombe)"""			9370289, 9256445	Standard	XM_005260582		Approved	Mnrp41	uc002xyi.3	P78406	OTTHUMG00000032819	ENST00000395841.2:c.695C>T	20.37:g.55948583C>T	ENSP00000379182:p.Ala232Val					RAE1_ENST00000395840.2_Missense_Mutation_p.A232V|RAE1_ENST00000371242.2_Missense_Mutation_p.A232V|RAE1_ENST00000527947.1_Missense_Mutation_p.A232V	p.A232V	NM_003610.3	NP_003601.1	P78406	RAE1L_HUMAN	BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)		9	1115	+	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		232					A8K882|O15306|Q3SYL7|Q5TCH8|Q6V708|Q9H100|Q9NQM6	Missense_Mutation	SNP	ENST00000395841.2	37	c.695C>T	CCDS13458.1	.	.	.	.	.	.	.	.	.	.	C	33	5.276651	0.95459	.	.	ENSG00000101146	ENST00000395841;ENST00000371242;ENST00000527947;ENST00000395840	T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62	6.02	6.02	0.97574	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.100190	0.64402	D	0.000002	D	0.82407	0.5030	M	0.63843	1.955	0.80722	D	1	D;P;P	0.76494	0.999;0.846;0.846	D;B;B	0.72338	0.977;0.162;0.162	T	0.79262	-0.1876	10	0.36615	T	0.2	-28.5582	18.7213	0.91694	0.0:1.0:0.0:0.0	.	232;232;232	E9PQ57;A8K882;P78406	.;.;RAE1L_HUMAN	V	232	ENSP00000379182:A232V;ENSP00000360286:A232V;ENSP00000432609:A232V;ENSP00000379181:A232V	ENSP00000360286:A232V	A	+	2	0	RAE1	55381990	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	7.270000	0.78493	2.865000	0.98341	0.655000	0.94253	GCC		0.398	RAE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079842.2			4	137	0	0	0	1	0	4	137				
SPATA31C1	441452	broad.mit.edu	37	9	90535290	90535290	+	RNA	SNP	T	T	C	rs55701842		TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr9:90535290T>C	ENST00000602681.1	+	0	1194							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CTATGGAAGATGCTGCTCCCA	0.592																																						ENST00000602681.1																			0																				108.0	116.0	114.0					9																	90535290		692	1591	2283			0							g.chr9:90535290T>C	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"""family with sequence similarity 75, member C1"""	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90535290T>C														0	1194	+									RNA	SNP	ENST00000602681.1	37																																																																																						0.592	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		5	302	0	0	0	1	0	5	302				
PCDH15	65217	broad.mit.edu	37	10	56287578	56287578	+	Silent	SNP	G	G	T			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr10:56287578G>T	ENST00000320301.6	-	3	545	c.151C>A	c.(151-153)Cgg>Agg	p.R51R	PCDH15_ENST00000395440.1_Silent_p.R51R|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000414778.1_Silent_p.R56R|PCDH15_ENST00000361849.3_Silent_p.R51R|PCDH15_ENST00000373955.1_Silent_p.R51R|PCDH15_ENST00000395445.1_Silent_p.R51R|PCDH15_ENST00000373965.2_Silent_p.R51R|PCDH15_ENST00000437009.1_Silent_p.R51R|PCDH15_ENST00000395446.1_Silent_p.R51R|PCDH15_ENST00000395432.2_Silent_p.R51R|RP11-257I14.1_ENST00000422842.1_RNA|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395438.1_Silent_p.R51R|PCDH15_ENST00000395430.1_Silent_p.R51R|PCDH15_ENST00000395433.1_Intron|PCDH15_ENST00000395442.1_Silent_p.R51R	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	51	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.R51R(3)|p.R56R(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTACCATTCCGACTTTCTTCA	0.343										HNSCC(58;0.16)																												ENST00000373965.2																			5	Substitution - coding silent(5)	p.R51R(3)|p.R56R(2)	prostate(5)	NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(151-153)Cgg>Agg		protocadherin-related 15							90.0	90.0	90.0					10																	56287578		2203	4300	6503	SO:0001819	synonymous_variant	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:56287578G>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.151C>A	10.37:g.56287578G>T		HNSCC(58;0.16)				RP11-257I14.1_ENST00000422842.1_RNA|PCDH15_ENST00000414778.1_Silent_p.R56R|PCDH15_ENST00000395442.1_Silent_p.R51R|PCDH15_ENST00000395433.1_Intron|PCDH15_ENST00000395445.1_Silent_p.R51R|PCDH15_ENST00000320301.6_Silent_p.R51R|PCDH15_ENST00000395446.1_Silent_p.R51R|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000437009.1_Silent_p.R51R|PCDH15_ENST00000361849.3_Silent_p.R51R|PCDH15_ENST00000395430.1_Silent_p.R51R|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395432.2_Silent_p.R51R|PCDH15_ENST00000395440.1_Silent_p.R51R|PCDH15_ENST00000395438.1_Silent_p.R51R|PCDH15_ENST00000373955.1_Silent_p.R51R	p.R51R	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			3	545	-		Melanoma(3;0.117)|Lung SC(717;0.238)	51			Cadherin 1.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000320301.6	37	c.151C>A	CCDS7248.1																																																																																				0.343	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		6	123	1	0	4.096e-09	1	4.9152e-09	6	123				
XIST	7503	broad.mit.edu	37	X	73066367	73066367	+	lincRNA	SNP	T	T	C			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chrX:73066367T>C	ENST00000429829.1	-	0	6221					NR_001564.2				X inactive specific transcript (non-protein coding)																		AGTAGGACCTTATTCACATGG	0.448																																						ENST00000429829.1																			0																				216.0	184.0	194.0					X																	73066367		876	1991	2867			0							g.chrX:73066367T>C	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73066367T>C								NR_001564.2						0	6221	-									RNA	SNP	ENST00000429829.1	37																																																																																						0.448	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		6	127	0	0	0	1	0	6	127				
SH3BP5L	80851	broad.mit.edu	37	1	249107303	249107303	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr1:249107303C>A	ENST00000366472.5	-	6	1825	c.596G>T	c.(595-597)cGg>cTg	p.R199L	SH3BP5L_ENST00000475978.1_5'UTR|SH3BP5L_ENST00000411742.2_Missense_Mutation_p.R167L	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	199								p.R199L(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			TTGGCACAGCCGAGTCACTCG	0.637																																						ENST00000366472.5																			1	Substitution - Missense(1)	p.R199L(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(595-597)cGg>cTg		SH3-binding domain protein 5-like							43.0	40.0	41.0					1																	249107303		2203	4300	6503	SO:0001583	missense	80851							g.chr1:249107303C>A	AB051507	CCDS31126.1	1q44	2008-02-05			ENSG00000175137	ENSG00000175137			29360	protein-coding gene	gene with protein product							Standard	NM_030645		Approved	KIAA1720	uc001iew.1	Q7L8J4	OTTHUMG00000040389	ENST00000366472.5:c.596G>T	1.37:g.249107303C>A	ENSP00000355428:p.Arg199Leu					SH3BP5L_ENST00000411742.2_Missense_Mutation_p.R167L|SH3BP5L_ENST00000475978.1_5'UTR	p.R199L	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		6	1825	-	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	199					B4DQ94|Q96FI5|Q9BQH8|Q9C0E3	Missense_Mutation	SNP	ENST00000366472.5	37	c.596G>T	CCDS31126.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.984401	0.53934	.	.	ENSG00000175137	ENST00000366472;ENST00000411742	T	0.79141	-1.24	4.4	3.47	0.39725	.	0.143577	0.46442	D	0.000296	T	0.66167	0.2762	L	0.38175	1.15	0.36070	D	0.842057	P;P;P;B	0.39535	0.677;0.55;0.677;0.077	B;B;B;B	0.39185	0.293;0.293;0.293;0.047	T	0.70171	-0.4945	10	0.30078	T	0.28	-34.8915	9.678	0.40052	0.0:0.8956:0.0:0.1044	.	167;92;199;57	B4DQ94;B4DSF1;Q7L8J4;Q96MW4	.;.;3BP5L_HUMAN;.	L	199;167	ENSP00000412203:R167L	ENSP00000355428:R199L	R	-	2	0	SH3BP5L	247073926	0.035000	0.19736	0.996000	0.52242	0.863000	0.49368	1.418000	0.34782	2.156000	0.67533	0.467000	0.42956	CGG		0.637	SH3BP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097140.1	NM_030645		2	5	1	0	0.0784	1	0.0866526	2	5				
CHMP7	91782	broad.mit.edu	37	8	23114023	23114023	+	Silent	SNP	C	C	T	rs563069776		TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr8:23114023C>T	ENST00000397677.1	+	5	1356	c.708C>T	c.(706-708)gaC>gaT	p.D236D	CHMP7_ENST00000313219.7_Silent_p.D236D	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	236					endosomal transport (GO:0016197)|late endosome to vacuole transport (GO:0045324)|membrane organization (GO:0061024)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|ESCRT III complex (GO:0000815)	protein transporter activity (GO:0008565)	p.D236D(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		CAGTCAATGACGTAGATGTTG	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		16316	0.0		0.0	False		,,,				2504	0.001					ENST00000397677.1																			1	Substitution - coding silent(1)	p.D236D(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(706-708)gaC>gaT		charged multivesicular body protein 7							255.0	235.0	241.0					8																	23114023		2203	4300	6503	SO:0001819	synonymous_variant	91782				cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity	g.chr8:23114023C>T	BC019110	CCDS6040.1	8p21.2	2011-09-21	2011-09-21		ENSG00000147457	ENSG00000147457		"""Charged multivesicular body proteins"""	28439	protein-coding gene	gene with protein product		611130	"""CHMP family, member 7"""			16856878	Standard	NM_152272		Approved	MGC29816	uc003xdc.2	Q8WUX9	OTTHUMG00000131785	ENST00000397677.1:c.708C>T	8.37:g.23114023C>T						CHMP7_ENST00000313219.7_Silent_p.D236D	p.D236D	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)	5	1356	+		Prostate(55;0.0513)	236					B2RDT3|B4DKJ6|D3DSS1|Q8NDM1|Q9BT50	Silent	SNP	ENST00000397677.1	37	c.708C>T	CCDS6040.1																																																																																				0.502	CHMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254717.1	NM_152272		5	299	0	0	0	1	0	5	299				
CPSF2	53981	broad.mit.edu	37	14	92608697	92608697	+	Splice_Site	SNP	T	T	C			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr14:92608697T>C	ENST00000298875.4	+	8	1134		c.e8+2			NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa						gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	RNA binding (GO:0003723)	p.?(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		AAGTCCCAGGTTTGTTCTCAT	0.383																																					Ovarian(78;28 1788 18702 44111)	ENST00000298875.4																			1	Unknown(1)	p.?(1)	prostate(1)	breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24						c.e8+2		cleavage and polyadenylation specific factor 2, 100kDa							188.0	182.0	184.0					14																	92608697		2203	4300	6503	SO:0001630	splice_region_variant	53981				histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding	g.chr14:92608697T>C	AB037788	CCDS9902.1	14q31.1	2008-07-28	2002-08-29			ENSG00000165934			2325	protein-coding gene	gene with protein product		606028	"""cleavage and polyadenylation specific factor 2, 100kD subunit"""			7969155, 11124543	Standard	NM_017437		Approved	KIAA1367	uc001yah.2	Q9P2I0		ENST00000298875.4:c.849+2T>C	14.37:g.92608697T>C								NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN		COAD - Colon adenocarcinoma(157;0.222)	8	1134	+		all_cancers(154;0.0766)						B3KME1|Q6NSJ1|Q9H3W7	Splice_Site	SNP	ENST00000298875.4	37		CCDS9902.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.653517	0.88056	.	.	ENSG00000165934	ENST00000298875	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6093	0.76704	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CPSF2	91678450	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	7.942000	0.87708	2.082000	0.62665	0.460000	0.39030	.		0.383	CPSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412123.1		Intron	5	286	0	0	0	1	0	5	286				
LTBP1	4052	broad.mit.edu	37	2	33172887	33172887	+	Splice_Site	SNP	T	T	C			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr2:33172887T>C	ENST00000404816.2	+	1	847		c.e1+2		LTBP1_ENST00000354476.3_Splice_Site|Y_RNA_ENST00000384224.1_RNA			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1						extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.?(2)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GCTGCAGGGGTAAgcccacac	0.726																																						ENST00000404816.2																			2	Unknown(2)	p.?(2)	prostate(2)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108						c.e1+2		latent transforming growth factor beta binding protein 1							5.0	5.0	5.0					2																	33172887		1515	2855	4370	SO:0001630	splice_region_variant	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33172887T>C		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.494+2T>C	2.37:g.33172887T>C						LTBP1_ENST00000354476.3_Splice_Site				Q14766	LTBP1_HUMAN			1	847	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)						A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Splice_Site	SNP	ENST00000404816.2	37		CCDS33177.2	.	.	.	.	.	.	.	.	.	.	T	18.20	3.570559	0.65765	.	.	ENSG00000049323	ENST00000404816;ENST00000354476	.	.	.	4.67	3.53	0.40419	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.4011	0.26965	0.0:0.102:0.0:0.898	.	.	.	.	.	-1	.	.	.	+	.	.	LTBP1	33026391	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.153000	0.42282	1.731000	0.51592	0.459000	0.35465	.		0.726	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943	Intron	2	9	0	0	0	1	0	2	9				
NSFL1C	55968	broad.mit.edu	37	20	1433675	1433675	+	Splice_Site	SNP	C	C	T			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr20:1433675C>T	ENST00000216879.4	-	6	1515		c.e6+1		NSFL1C_ENST00000353088.2_Splice_Site|NSFL1C_ENST00000381658.4_Splice_Site|NSFL1C_ENST00000461211.1_Splice_Site|NSFL1C_ENST00000350991.4_Splice_Site|NSFL1C_ENST00000476071.1_Splice_Site	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)							chromosome (GO:0005694)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.?(1)		breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						TTTTCACTCACCCTCTGCGGA	0.453																																						ENST00000216879.4																			1	Unknown(1)	p.?(1)	prostate(1)	breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.e6+1		NSFL1 (p97) cofactor (p47)							176.0	165.0	169.0					20																	1433675		2203	4300	6503	SO:0001630	splice_region_variant	55968					chromosome|Golgi stack|nucleus	lipid binding|protein binding	g.chr20:1433675C>T	AF112211	CCDS13015.1, CCDS13016.1, CCDS56175.1	20p13	2011-06-28			ENSG00000088833	ENSG00000088833		"""UBX domain containing"""	15912	protein-coding gene	gene with protein product	"""SHP1 homolog (S. cerevisiae)"", ""UBX domain protein 2C"""	606610				11042152	Standard	NM_016143		Approved	dJ776F14.1, p47, UBXD10, UBX1, UBXN2C	uc002wfc.3	Q9UNZ2	OTTHUMG00000031665	ENST00000216879.4:c.647+1G>A	20.37:g.1433675C>T						NSFL1C_ENST00000350991.4_Splice_Site|NSFL1C_ENST00000476071.1_Splice_Site|NSFL1C_ENST00000353088.2_Splice_Site|NSFL1C_ENST00000381658.4_Splice_Site|NSFL1C_ENST00000461211.1_Splice_Site		NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN			6	1515	-								A2A2L1|B2RD74|Q5JXA4|Q5JXA5|Q7Z533|Q9H102|Q9NVL9|Q9UI06	Splice_Site	SNP	ENST00000216879.4	37		CCDS13015.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657632	0.88154	.	.	ENSG00000088833	ENST00000353088;ENST00000476071;ENST00000216879;ENST00000381658;ENST00000350991	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5459	0.87861	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NSFL1C	1381675	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.830000	0.69324	2.890000	0.99128	0.650000	0.86243	.		0.453	NSFL1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077525.2	NM_016143	Intron	7	354	0	0	0	1	0	7	354				
RYR2	6262	broad.mit.edu	37	1	237801684	237801684	+	Silent	SNP	C	C	T			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr1:237801684C>T	ENST00000366574.2	+	45	7137	c.6820C>T	c.(6820-6822)Ctg>Ttg	p.L2274L	RYR2_ENST00000360064.6_Silent_p.L2272L|RYR2_ENST00000542537.1_Silent_p.L2258L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2274	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.L2274L(1)|p.L2272L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGGTTGTGGACTGCAAAGTTG	0.413																																						ENST00000366574.2																			2	Substitution - coding silent(2)	p.L2274L(1)|p.L2272L(1)	prostate(2)	NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(6820-6822)Ctg>Ttg		ryanodine receptor 2 (cardiac)							258.0	250.0	253.0					1																	237801684		1921	4135	6056	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237801684C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6820C>T	1.37:g.237801684C>T						RYR2_ENST00000360064.6_Silent_p.L2272L|RYR2_ENST00000542537.1_Silent_p.L2258L	p.L2274L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		45	7137	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2274			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.6820C>T	CCDS55691.1																																																																																				0.413	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		8	248	0	0	0	1	0	8	248				
GABRR2	2570	broad.mit.edu	37	6	89974189	89974189	+	Missense_Mutation	SNP	G	G	A	rs149245573		TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr6:89974189G>A	ENST00000402938.3	-	8	1161	c.1028C>T	c.(1027-1029)gCg>gTg	p.A343V	GABRR2_ENST00000602399.1_Missense_Mutation_p.A368V	NM_002043.3	NP_002034.3	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	343					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.A343V(3)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	GTTGACAGCCGCATACTCCAG	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		20743	0.0		0.001	False		,,,				2504	0.0					ENST00000402938.3																			3	Substitution - Missense(3)	p.A343V(3)	prostate(2)|lung(1)	central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21						c.(1027-1029)gCg>gTg		gamma-aminobutyric acid (GABA) A receptor, rho 2							116.0	88.0	97.0					6																	89974189		2203	4300	6503	SO:0001583	missense	2570				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr6:89974189G>A		CCDS5020.2, CCDS5020.3	6q15	2012-06-22	2012-02-03		ENSG00000111886	ENSG00000111886		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4091	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 2"""	137162	"""gamma-aminobutyric acid (GABA) receptor, rho 2"""			1315307	Standard	NM_002043		Approved		uc003pnb.3	P28476	OTTHUMG00000015198	ENST00000402938.3:c.1028C>T	6.37:g.89974189G>A	ENSP00000386029:p.Ala343Val					GABRR2_ENST00000602399.1_Missense_Mutation_p.A368V	p.A343V			P28476	GBRR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0158)	8	1161	-		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)	368					A2BDE4|Q9H153	Missense_Mutation	SNP	ENST00000402938.3	37	c.1028C>T	CCDS5020.3	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	36	5.780845	0.96929	.	.	ENSG00000111886	ENST00000402938	.	.	.	5.93	5.93	0.95920	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	T	0.82015	0.4945	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81116	-0.1079	8	.	.	.	.	20.3437	0.98782	0.0:0.0:1.0:0.0	.	368	P28476	GBRR2_HUMAN	V	368	.	.	A	-	2	0	GABRR2	90030908	1.000000	0.71417	0.997000	0.53966	0.965000	0.64279	9.869000	0.99810	2.815000	0.96918	0.561000	0.74099	GCG		0.597	GABRR2-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041482.3			3	53	0	0	0	1	0	3	53				
ETV5	2119	broad.mit.edu	37	3	185797681	185797681	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr3:185797681G>A	ENST00000306376.5	-	7	821	c.575C>T	c.(574-576)gCg>gTg	p.A192V	ETV5_ENST00000434744.1_Missense_Mutation_p.A192V|ETV5_ENST00000537818.1_Missense_Mutation_p.A234V|ETV5-AS1_ENST00000453370.1_RNA	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	192					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|locomotory behavior (GO:0007626)|male germ-line stem cell asymmetric division (GO:0048133)|neuromuscular synaptic transmission (GO:0007274)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of synapse organization (GO:0050807)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.A192V(2)		breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			TCGGGGGACCGCAAATGTTTG	0.607			T	"""TMPRSS2, SCL45A3"""	Prostate																																	ENST00000306376.5				Dom	yes		3	3q28	2119	T	ets variant gene 5			E	"""TMPRSS2, SCL45A3"""		Prostate		2	Substitution - Missense(2)	p.A192V(2)	prostate(2)	breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28						c.(574-576)gCg>gTg		ets variant 5							108.0	108.0	108.0					3																	185797681		2203	4300	6503	SO:0001583	missense	2119				cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr3:185797681G>A	BC007333	CCDS33906.1	3q28	2008-09-12	2008-09-12		ENSG00000244405	ENSG00000244405			3494	protein-coding gene	gene with protein product	"""ets-related molecule"""	601600	"""ets variant gene 5 (ets-related molecule)"""			8152800	Standard	NM_004454		Approved	ERM	uc003fpz.3	P41161	OTTHUMG00000156639	ENST00000306376.5:c.575C>T	3.37:g.185797681G>A	ENSP00000306894:p.Ala192Val					ETV5_ENST00000434744.1_Missense_Mutation_p.A192V|ETV5_ENST00000537818.1_Missense_Mutation_p.A234V|ETV5-AS1_ENST00000453370.1_RNA	p.A192V	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)		7	821	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		192					A6NH46|B7Z7D7|Q6IBN5	Missense_Mutation	SNP	ENST00000306376.5	37	c.575C>T	CCDS33906.1	.	.	.	.	.	.	.	.	.	.	G	10.87	1.471263	0.26423	.	.	ENSG00000244405	ENST00000306376;ENST00000434744;ENST00000537818	T;T;T	0.22945	1.93;1.93;1.93	5.34	4.47	0.54385	PEA3-type ETS-domain transcription factor, N-terminal (1);	0.671925	0.14725	N	0.302092	T	0.15392	0.0371	N	0.20685	0.6	0.40231	D	0.977846	B;B	0.32507	0.006;0.373	B;B	0.29598	0.004;0.104	T	0.08006	-1.0743	10	0.16896	T	0.51	.	11.2277	0.48892	0.087:0.0:0.913:0.0	.	192;234	P41161;B7Z7D7	ETV5_HUMAN;.	V	192;192;234	ENSP00000306894:A192V;ENSP00000413755:A192V;ENSP00000441737:A234V	ENSP00000306894:A192V	A	-	2	0	ETV5	187280375	0.995000	0.38212	0.981000	0.43875	0.994000	0.84299	2.303000	0.43646	1.249000	0.43950	0.563000	0.77884	GCG		0.607	ETV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344947.1	NM_004454		4	123	0	0	0	1	0	4	123				
MFSD4	148808	broad.mit.edu	37	1	205549915	205549915	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr1:205549915C>A	ENST00000367147.4	+	3	649	c.556C>A	c.(556-558)Cat>Aat	p.H186N	MFSD4_ENST00000539267.1_Missense_Mutation_p.H186N|MFSD4_ENST00000536357.1_Intron	NM_181644.4	NP_857595.3	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing 4	186					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.H186N(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			CCACCTGTTCCATGTCTCCAG	0.617																																						ENST00000367147.4																			1	Substitution - Missense(1)	p.H186N(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(556-558)Cat>Aat		major facilitator superfamily domain containing 4							89.0	83.0	85.0					1																	205549915		2203	4300	6503	SO:0001583	missense	148808				transmembrane transport	integral to membrane		g.chr1:205549915C>A	BC036549	CCDS1455.1	1q32.1	2008-02-05			ENSG00000174514	ENSG00000174514			25433	protein-coding gene	gene with protein product							Standard	NM_181644		Approved	DKFZp761N1114, FLJ34577, UNQ3064, FLJ25004	uc001hcv.4	Q8N468	OTTHUMG00000037197	ENST00000367147.4:c.556C>A	1.37:g.205549915C>A	ENSP00000356115:p.His186Asn					MFSD4_ENST00000539267.1_Missense_Mutation_p.H186N|MFSD4_ENST00000536357.1_Intron	p.H186N	NM_181644.4	NP_857595.3	Q8N468	MFSD4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0908)		3	649	+	Breast(84;0.07)		186					B7Z8X3|Q6UY25|Q8NAY0|Q8TCP4	Missense_Mutation	SNP	ENST00000367147.4	37	c.556C>A	CCDS1455.1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.767038	0.69878	.	.	ENSG00000174514	ENST00000367147;ENST00000539267	T;T	0.22743	1.94;1.94	4.73	4.73	0.59995	Major facilitator superfamily domain, general substrate transporter (1);	0.051610	0.85682	D	0.000000	T	0.39436	0.1078	L	0.54323	1.7	0.47065	D	0.999305	D;D	0.69078	0.997;0.993	D;D	0.79108	0.992;0.93	T	0.03662	-1.1015	10	0.27785	T	0.31	-29.6464	14.5685	0.68197	0.0:1.0:0.0:0.0	.	131;186	B7Z8X0;Q8N468	.;MFSD4_HUMAN	N	186	ENSP00000356115:H186N;ENSP00000445329:H186N	ENSP00000356115:H186N	H	+	1	0	MFSD4	203816538	0.994000	0.37717	0.997000	0.53966	0.918000	0.54935	3.803000	0.55560	2.451000	0.82905	0.643000	0.83706	CAT		0.617	MFSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090391.1	NM_181644		4	92	1	0	1	1	1	4	92				
DAXX	1616	broad.mit.edu	37	6	33287900	33287900	+	Silent	SNP	C	C	T			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr6:33287900C>T	ENST00000374542.5	-	5	1557	c.1353G>A	c.(1351-1353)gaG>gaA	p.E451E	DAXX_ENST00000477162.1_5'UTR|ZBTB22_ENST00000431845.2_5'Flank|DAXX_ENST00000414083.2_Silent_p.E376E|ZBTB22_ENST00000418724.1_5'Flank|DAXX_ENST00000266000.6_Silent_p.E451E	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	451	Asp/Glu-rich (acidic).|Necessary for interaction with USP7.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.E451E(2)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						cttcttcttcctcctcctcct	0.557			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM																																	ENST00000374542.5				Rec	yes		6	6p21.3	1616	"""Mis, F, N"""	death-domain associated protein			E			Pancreatic neuroendocrine tumors. Paediatric GBM		2	Substitution - coding silent(2)	p.E451E(2)	prostate(1)|kidney(1)	breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						c.(1351-1353)gaG>gaA		death-domain associated protein							127.0	100.0	109.0					6																	33287900		2203	4300	6503	SO:0001819	synonymous_variant	1616				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	g.chr6:33287900C>T	AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"""death-associated protein 6"""			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.1353G>A	6.37:g.33287900C>T						DAXX_ENST00000414083.2_Silent_p.E376E|DAXX_ENST00000266000.6_Silent_p.E451E|DAXX_ENST00000477162.1_5'UTR	p.E451E	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN			5	1557	-			451			Asp/Glu-rich (acidic).|Necessary for interaction with USP7.		B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Silent	SNP	ENST00000374542.5	37	c.1353G>A	CCDS4776.1																																																																																				0.557	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1			3	91	0	0	0	1	0	3	91				
MUC16	94025	broad.mit.edu	37	19	9075833	9075833	+	Silent	SNP	C	C	T			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr19:9075833C>T	ENST00000397910.4	-	3	11816	c.11613G>A	c.(11611-11613)gaG>gaA	p.E3871E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3872	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.E3871E(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATTTTTCTTTCTCATTCCAGG	0.448																																						ENST00000397910.4																			2	Substitution - coding silent(2)	p.E3871E(2)	prostate(2)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(11611-11613)gaG>gaA		mucin 16, cell surface associated							125.0	114.0	117.0					19																	9075833		2020	4195	6215	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9075833C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.11613G>A	19.37:g.9075833C>T							p.E3871E	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	11816	-			3872			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.11613G>A	CCDS54212.1																																																																																				0.448	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		8	100	0	0	0	1	0	8	100				
PBX4	80714	broad.mit.edu	37	19	19675795	19675795	+	Missense_Mutation	SNP	G	G	A	rs139542458		TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr19:19675795G>A	ENST00000251203.9	-	6	1158	c.872C>T	c.(871-873)aCg>aTg	p.T291M		NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4	291					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|XY body (GO:0001741)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T291M(1)		large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						CCCAACTTCCGTGGTATCCAC	0.527																																						ENST00000251203.8																			1	Substitution - Missense(1)	p.T291M(1)	prostate(1)	large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						c.(871-873)aCg>aTg		pre-B-cell leukemia homeobox 4		G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	253.0	255.0	254.0		872	3.8	0.0	19	dbSNP_134	254	0,8600		0,0,4300	no	missense	PBX4	NM_025245.2	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	291/375	19675795	1,13005	2203	4300	6503	SO:0001583	missense	80714						sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:19675795G>A	AJ300182	CCDS12406.1	19p13.11	2014-09-11	2007-01-30		ENSG00000105717			"""Homeoboxes / TALE class"""	13403	protein-coding gene	gene with protein product		608127	"""pre-B-cell leukemia transcription factor 4"""				Standard	NM_025245		Approved		uc002nmy.3	Q9BYU1	OTTHUMG00000172310	ENST00000251203.9:c.872C>T	19.37:g.19675795G>A	ENSP00000251203:p.Thr291Met						p.T291M	NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN			6	1158	-			291					A5D8Y0|B3KUK9	Missense_Mutation	SNP	ENST00000251203.9	37	c.872C>T	CCDS12406.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.561578	0.65538	2.27E-4	0.0	ENSG00000105717	ENST00000251203	D	0.90504	-2.68	3.75	3.75	0.43078	.	0.427784	0.23565	N	0.046814	D	0.92093	0.7494	M	0.68317	2.08	0.39621	D	0.970037	D	0.76494	0.999	P	0.54815	0.761	D	0.92172	0.5744	10	0.42905	T	0.14	-12.2147	13.1613	0.59547	0.0:0.0:1.0:0.0	.	291	Q9BYU1	PBX4_HUMAN	M	291	ENSP00000251203:T291M	ENSP00000251203:T291M	T	-	2	0	PBX4	19536795	1.000000	0.71417	0.008000	0.14137	0.041000	0.13682	6.457000	0.73505	1.953000	0.56701	0.505000	0.49811	ACG		0.527	PBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417784.6			9	377	0	0	0	1	0	9	377				
SLC4A11	83959	broad.mit.edu	37	20	3209652	3209652	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr20:3209652A>C	ENST00000380056.3	-	16	2119	c.2072T>G	c.(2071-2073)gTg>gGg	p.V691G	SLC4A11_ENST00000488544.1_5'UTR|SLC4A11_ENST00000539553.2_Missense_Mutation_p.V675G|SLC4A11_ENST00000380059.3_Missense_Mutation_p.V718G	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	691	Membrane (bicarbonate transporter).				bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)	p.V718G(1)|p.V691G(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						AGTGCCCTTCACCAGCCTGCA	0.667																																					NSCLC(190;922 2139 10266 10292 38692)	ENST00000380059.3																			2	Substitution - Missense(2)	p.V718G(1)|p.V691G(1)	prostate(2)	breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						c.(2152-2154)gTg>gGg		solute carrier family 4, sodium borate transporter, member 11							87.0	72.0	77.0					20																	3209652		2201	4300	6501	SO:0001583	missense	83959				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity	g.chr20:3209652A>C	AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"""Solute carriers"""	16438	protein-coding gene	gene with protein product		610206	"""corneal endothelial dystrophy 2 (autosomal recessive)"", ""solute carrier family 4, sodium bicarbonate transporter-like, member 11"", ""corneal dystrophy and perceptive deafness 1"""	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.2072T>G	20.37:g.3209652A>C	ENSP00000369396:p.Val691Gly					SLC4A11_ENST00000380056.3_Missense_Mutation_p.V691G|SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000539553.1_Missense_Mutation_p.V675G	p.V718G	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN			17	2254	-			691			Membrane (bicarbonate transporter).		B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Missense_Mutation	SNP	ENST00000380056.3	37	c.2153T>G	CCDS13052.1	.	.	.	.	.	.	.	.	.	.	A	13.31	2.199387	0.38806	.	.	ENSG00000088836	ENST00000380059;ENST00000380056;ENST00000539553	T;T;T	0.79352	-1.26;-1.26;-1.26	4.93	4.93	0.64822	Bicarbonate transporter, C-terminal (1);	0.217595	0.39341	N	0.001385	T	0.81432	0.4821	M	0.83483	2.645	0.80722	D	1	B;P;P	0.42337	0.36;0.587;0.776	B;B;B	0.43052	0.161;0.381;0.406	D	0.84003	0.0344	10	0.51188	T	0.08	.	14.8866	0.70572	1.0:0.0:0.0:0.0	.	675;718;691	G3V1M3;B4DKC8;Q8NBS3	.;.;S4A11_HUMAN	G	718;691;675	ENSP00000369399:V718G;ENSP00000369396:V691G;ENSP00000441370:V675G	ENSP00000369396:V691G	V	-	2	0	SLC4A11	3157652	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.200000	0.77838	1.989000	0.58080	0.379000	0.24179	GTG		0.667	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1			8	25	0	0	0	1	0	8	25				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		5	95	0	0	0	1	0	5	95				
PEX1	5189	broad.mit.edu	37	7	92147136	92147136	+	Silent	SNP	G	G	A			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr7:92147136G>A	ENST00000248633.4	-	5	788	c.693C>T	c.(691-693)aaC>aaT	p.N231N	PEX1_ENST00000438045.1_Intron|PEX1_ENST00000428214.1_Silent_p.N231N|PEX1_ENST00000541751.1_5'Flank	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	231					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)	p.N231N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TCTCTGACTCGTTTTCATTAG	0.363																																						ENST00000248633.4																			1	Substitution - coding silent(1)	p.N231N(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(691-693)aaC>aaT		peroxisomal biogenesis factor 1							92.0	90.0	91.0					7																	92147136		2203	4300	6503	SO:0001819	synonymous_variant	5189				microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr7:92147136G>A	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"""ATPases / AAA-type"""	8850	protein-coding gene	gene with protein product		602136	"""peroxisome biogenesis factor 1"", ""Zellweger syndrome 1"", ""Zellweger syndrome"""	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.693C>T	7.37:g.92147136G>A						PEX1_ENST00000428214.1_Silent_p.N231N|PEX1_ENST00000438045.1_Intron	p.N231N	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		5	788	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	231					A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Silent	SNP	ENST00000248633.4	37	c.693C>T	CCDS5627.1																																																																																				0.363	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466		6	147	0	0	0	1	0	6	147				
TRDC	28526	broad.mit.edu	37	14	22932283	22932283	+	RNA	SNP	G	G	T			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr14:22932283G>T	ENST00000390477.2	+	0	279				AE000661.37_ENST00000514473.2_RNA|AE000661.37_ENST00000556777.1_RNA			B7Z8K6	TRDC_HUMAN	T cell receptor delta constant							integral component of membrane (GO:0016021)											ATGTAACTGTGGACAAATCAT	0.443																																						ENST00000514473.2																			0																																																			0							g.chr14:22932283G>T	M22148		14q11.2	2012-02-07			ENSG00000211829	ENSG00000211829		"""T cell receptors / TRD locus"""	12253	other	T cell receptor gene		186810					Standard	NG_001332		Approved			B7Z8K6	OTTHUMG00000170905		14.37:g.22932283G>T						AE000661.37_ENST00000556777.1_RNA|TRDC_ENST00000390477.2_RNA								0	225	-									RNA	SNP	ENST00000390477.2	37																																																																																						0.443	TRDC-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000410936.1	NG_001332		3	58	1	0	1	1	1	3	58				
XRCC6	2547	broad.mit.edu	37	22	42057337	42057337	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr22:42057337C>T	ENST00000359308.4	+	11	2180	c.1525C>T	c.(1525-1527)Ccc>Tcc	p.P509S	XRCC6_ENST00000360079.3_Missense_Mutation_p.P509S|XRCC6_ENST00000402580.3_Missense_Mutation_p.P468S|XRCC6_ENST00000428575.2_Missense_Mutation_p.P376S|XRCC6_ENST00000405506.1_Missense_Mutation_p.P459S|XRCC6_ENST00000405878.1_Missense_Mutation_p.P509S			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	509					brain development (GO:0007420)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA ligation (GO:0006266)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)	p.P509S(2)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						TTTTCTAGTGCCCAAGGTTGA	0.473								Non-homologous end-joining																														ENST00000359308.4																			2	Substitution - Missense(2)	p.P509S(2)	prostate(2)	central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						c.(1525-1527)Ccc>Tcc	Non-homologous end-joining	X-ray repair complementing defective repair in Chinese hamster cells 6							117.0	123.0	121.0					22																	42057337		2203	4300	6503	SO:0001583	missense	2547				DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding	g.chr22:42057337C>T	J04607	CCDS14021.1, CCDS74870.1, CCDS74871.1	22q13.2	2011-09-12	2008-07-31	2005-05-06	ENSG00000196419	ENSG00000196419			4055	protein-coding gene	gene with protein product	"""Ku autoantigen, 70kDa"""	152690	"""thyroid autoantigen 70kD (Ku antigen)"", ""thyroid autoantigen 70kDa (Ku antigen)"""	G22P1		9200330, 9223317	Standard	NM_001469		Approved	D22S731, D22S671, KU70, ML8	uc003bao.1	P12956	OTTHUMG00000151190	ENST00000359308.4:c.1525C>T	22.37:g.42057337C>T	ENSP00000352257:p.Pro509Ser					XRCC6_ENST00000402580.3_Missense_Mutation_p.P468S|XRCC6_ENST00000405506.1_Missense_Mutation_p.P459S|XRCC6_ENST00000405878.1_Missense_Mutation_p.P509S|XRCC6_ENST00000428575.2_Missense_Mutation_p.P376S|XRCC6_ENST00000360079.3_Missense_Mutation_p.P509S	p.P509S			P12956	XRCC6_HUMAN			11	2180	+			509					B1AHC8|Q6FG89|Q9UCQ2|Q9UCQ3	Missense_Mutation	SNP	ENST00000359308.4	37	c.1525C>T	CCDS14021.1	.	.	.	.	.	.	.	.	.	.	C	32	5.161147	0.94727	.	.	ENSG00000196419	ENST00000360079;ENST00000402580;ENST00000428575;ENST00000359308;ENST00000405878;ENST00000402409;ENST00000405506	T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79	5.51	5.51	0.81932	Spen Paralogue and Orthologue SPOC, C-terminal-like (1);Ku70/Ku80 C-terminal arm (2);	0.000000	0.85682	D	0.000000	T	0.76793	0.4037	M	0.91872	3.25	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.999	T	0.81562	-0.0876	10	0.62326	D	0.03	-14.4088	19.4236	0.94732	0.0:1.0:0.0:0.0	.	459;509;468;509	B1AHC9;B1AHC7;B1AHC8;P12956	.;.;.;XRCC6_HUMAN	S	509;468;376;509;509;509;459	ENSP00000353192:P509S;ENSP00000384941:P468S;ENSP00000403679:P376S;ENSP00000352257:P509S;ENSP00000384257:P509S;ENSP00000384082:P459S	ENSP00000352257:P509S	P	+	1	0	XRCC6	40387283	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.190000	0.77755	2.573000	0.86826	0.650000	0.86243	CCC		0.473	XRCC6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321688.1	NM_001469		7	250	0	0	0	1	0	7	250				
ADCY1	107	broad.mit.edu	37	7	45744119	45744119	+	Silent	SNP	C	C	A			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr7:45744119C>A	ENST00000297323.7	+	17	2743	c.2721C>A	c.(2719-2721)ctC>ctA	p.L907L		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	907					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.L907L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AAACAAAGCTCATGGAAAAAG	0.498																																						ENST00000297323.7																			1	Substitution - coding silent(1)	p.L907L(1)	prostate(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(2719-2721)ctC>ctA		adenylate cyclase 1 (brain)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)						63.0	66.0	65.0					7																	45744119		2203	4300	6503	SO:0001819	synonymous_variant	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45744119C>A	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.2721C>A	7.37:g.45744119C>A							p.L907L	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN			17	2743	+			907					A4D2L8|Q75MI1	Silent	SNP	ENST00000297323.7	37	c.2721C>A	CCDS34631.1																																																																																				0.498	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		6	134	1	0	5.9392e-07	1	6.74179e-07	6	134				
FAM207A	85395	broad.mit.edu	37	21	46387079	46387079	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr21:46387079C>A	ENST00000291634.6	+	4	531	c.483C>A	c.(481-483)agC>agA	p.S161R	FAM207A_ENST00000479127.1_3'UTR|FAM207A_ENST00000397826.3_Missense_Mutation_p.S146R	NM_058190.2	NP_478070.1	Q9NSI2	F207A_HUMAN	family with sequence similarity 207, member A	161								p.S161R(1)									AGGCTGGCAGCCGGCGCCAAG	0.716																																						ENST00000291634.6																			1	Substitution - Missense(1)	p.S161R(1)	prostate(1)								c.(481-483)agC>agA		family with sequence similarity 207, member A							14.0	19.0	17.0					21																	46387079		2185	4274	6459	SO:0001583	missense	85395							g.chr21:46387079C>A		CCDS13718.1	21q22.3	2011-08-15	2011-08-15	2011-08-15	ENSG00000160256	ENSG00000160256			15811	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 70"""	C21orf70			Standard	NM_058190		Approved	PRED56	uc002zgl.3	Q9NSI2	OTTHUMG00000090293	ENST00000291634.6:c.483C>A	21.37:g.46387079C>A	ENSP00000291634:p.Ser161Arg					FAM207A_ENST00000479127.1_3'UTR|FAM207A_ENST00000397826.3_Missense_Mutation_p.S146R	p.S161R	NM_058190.2	NP_478070.1	Q9NSI2	CU070_HUMAN			4	531	+			161						Missense_Mutation	SNP	ENST00000291634.6	37	c.483C>A	CCDS13718.1	.	.	.	.	.	.	.	.	.	.	C	8.155	0.788297	0.16258	.	.	ENSG00000160256	ENST00000291634;ENST00000397826;ENST00000458015	T;T;T	0.44881	0.94;0.94;0.91	3.44	3.44	0.39384	.	0.895789	0.09616	N	0.778288	T	0.27384	0.0672	N	0.16307	0.4	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.11329	0.004;0.006	T	0.07966	-1.0745	10	0.22109	T	0.4	-0.0034	10.7055	0.45952	0.0:1.0:0.0:0.0	.	146;161	Q9NSI2-2;Q9NSI2	.;F207A_HUMAN	R	161;146;146	ENSP00000291634:S161R;ENSP00000380926:S146R;ENSP00000404964:S146R	ENSP00000291634:S161R	S	+	3	2	C21orf70	45211507	0.000000	0.05858	0.012000	0.15200	0.016000	0.09150	-1.732000	0.01851	2.205000	0.71048	0.563000	0.77884	AGC		0.716	FAM207A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206639.1	NM_058190		3	22	1	0	0.115264	1	0.12413	3	22				
CP	1356	broad.mit.edu	37	3	148905905	148905905	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr3:148905905A>C	ENST00000264613.6	-	10	2060	c.1798T>G	c.(1798-1800)Ttt>Gtt	p.F600V	CP_ENST00000462336.1_5'UTR	NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	600	F5/8 type A 2.|Plastocyanin-like 4.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)	p.F600V(1)		breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	GCAGTTGTAAACATTCTAATA	0.343																																						ENST00000264613.6																			1	Substitution - Missense(1)	p.F600V(1)	prostate(1)	breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1798-1800)Ttt>Gtt		ceruloplasmin (ferroxidase)	Drotrecogin alfa(DB00055)						120.0	118.0	119.0					3																	148905905		2203	4297	6500	SO:0001583	missense	1356				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	g.chr3:148905905A>C	M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.1798T>G	3.37:g.148905905A>C	ENSP00000264613:p.Phe600Val					CP_ENST00000462336.1_5'UTR	p.F600V	NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		10	2060	-		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	600			F5/8 type A 2.|Plastocyanin-like 4.		Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	ENST00000264613.6	37	c.1798T>G	CCDS3141.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.200832	0.79015	.	.	ENSG00000047457	ENST00000264613;ENST00000494544	D;D	0.97959	-4.63;-4.63	6.06	6.06	0.98353	Cupredoxin (2);	0.097795	0.64402	D	0.000001	D	0.98823	0.9603	M	0.90483	3.12	0.54753	D	0.999985	D;P;D;D	0.67145	0.993;0.932;0.993;0.996	P;P;P;D	0.64506	0.825;0.639;0.825;0.926	D	0.99449	1.0940	10	0.56958	D	0.05	-29.7083	16.6127	0.84892	1.0:0.0:0.0:0.0	.	600;600;600;600	A5PL27;A8K5A4;P00450;Q1L857	.;.;CERU_HUMAN;.	V	600;383	ENSP00000264613:F600V;ENSP00000420545:F383V	ENSP00000264613:F600V	F	-	1	0	CP	150388595	1.000000	0.71417	0.998000	0.56505	0.915000	0.54546	6.544000	0.73878	2.322000	0.78497	0.528000	0.53228	TTT		0.343	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096		6	261	0	0	0	1	0	6	261				
THNSL2	55258	broad.mit.edu	37	2	88478453	88478453	+	Silent	SNP	G	G	A			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr2:88478453G>A	ENST00000324166.5	+	4	2414	c.723G>A	c.(721-723)caG>caA	p.Q241Q	THNSL2_ENST00000358591.2_Silent_p.Q241Q|THNSL2_ENST00000402102.1_Silent_p.Q241Q|THNSL2_ENST00000343544.4_Silent_p.Q241Q|THNSL2_ENST00000449349.1_Silent_p.Q209Q|THNSL2_ENST00000496844.1_3'UTR|THNSL2_ENST00000377254.3_Silent_p.Q241Q	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	241					2-oxobutyrate biosynthetic process (GO:0046360)|dephosphorylation (GO:0016311)|serine family amino acid catabolic process (GO:0009071)	extracellular space (GO:0005615)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|serine binding (GO:0070905)	p.Q241Q(1)		breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						CTTACTTCCAGTGTACGCCAT	0.552																																						ENST00000324166.5																			1	Substitution - coding silent(1)	p.Q241Q(1)	prostate(1)	breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						c.(721-723)caG>caA		threonine synthase-like 2 (S. cerevisiae)							257.0	228.0	238.0					2																	88478453		2203	4300	6503	SO:0001819	synonymous_variant	55258				threonine biosynthetic process		threonine synthase activity	g.chr2:88478453G>A		CCDS2002.2, CCDS58718.1, CCDS74539.1	2p11.2	2007-06-20			ENSG00000144115	ENSG00000144115			25602	protein-coding gene	gene with protein product		611261				17034760	Standard	NM_018271		Approved	FLJ10916	uc021vkr.1	Q86YJ6	OTTHUMG00000130314	ENST00000324166.5:c.723G>A	2.37:g.88478453G>A						THNSL2_ENST00000358591.2_Silent_p.Q241Q|THNSL2_ENST00000449349.1_Silent_p.Q209Q|THNSL2_ENST00000496844.1_3'UTR|THNSL2_ENST00000402102.1_Silent_p.Q241Q|THNSL2_ENST00000343544.4_Silent_p.Q241Q|THNSL2_ENST00000377254.3_Silent_p.Q241Q	p.Q241Q	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN			4	2414	+			241					B3KTB1|B5MDX8|B7WPF8|D9ZZB8|Q6P2M7|Q6PI27|Q9NV54	Silent	SNP	ENST00000324166.5	37	c.723G>A	CCDS2002.2																																																																																				0.552	THNSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252662.1	NM_018271		10	447	0	0	0	1	0	10	447				
CDAN1	146059	broad.mit.edu	37	15	43022880	43022880	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr15:43022880A>C	ENST00000356231.3	-	14	2113	c.2090T>G	c.(2089-2091)gTg>gGg	p.V697G		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	697					chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.V697G(1)		endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		GAGAAACTCCACCAGCCAGGG	0.637																																						ENST00000356231.3																			1	Substitution - Missense(1)	p.V697G(1)	prostate(1)	endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24						c.(2089-2091)gTg>gGg		codanin 1							33.0	36.0	35.0					15																	43022880		2203	4299	6502	SO:0001583	missense	146059					integral to membrane	protein binding	g.chr15:43022880A>C	AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326			1713	protein-coding gene	gene with protein product		607465	"""congenital dyserythropoietic anemia, type I"""			8634422, 12434312	Standard	XM_005254177		Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.2090T>G	15.37:g.43022880A>C	ENSP00000348564:p.Val697Gly						p.V697G	NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN		GBM - Glioblastoma multiforme(94;2.49e-07)	14	2113	-		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)	697					Q6NYD0|Q7Z7L5|Q969N3	Missense_Mutation	SNP	ENST00000356231.3	37	c.2090T>G	CCDS32209.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.656489	0.88154	.	.	ENSG00000140326	ENST00000356231;ENST00000267892	D	0.85556	-2.0	5.77	4.65	0.58169	.	0.058475	0.64402	D	0.000002	D	0.88492	0.6451	M	0.79926	2.475	0.80722	D	1	D	0.58970	0.984	P	0.51453	0.67	D	0.89909	0.4050	10	0.87932	D	0	-18.0807	11.2179	0.48838	0.929:0.0:0.071:0.0	.	697	Q8IWY9	CDAN1_HUMAN	G	697;695	ENSP00000348564:V697G	ENSP00000267892:V695G	V	-	2	0	CDAN1	40810172	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.125000	0.77193	2.199000	0.70637	0.533000	0.62120	GTG		0.637	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1	XM_085300		6	41	0	0	0	1	0	6	41				
POTEC	388468	broad.mit.edu	37	18	14513675	14513675	+	Missense_Mutation	SNP	T	T	C	rs371810308	byFrequency	TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr18:14513675T>C	ENST00000358970.5	-	10	1518	c.1519A>G	c.(1519-1521)Aaa>Gaa	p.K507E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	507								p.K507E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAATTCATTTTCTTTTCAGCC	0.284													.|||	3	0.000599042	0.0	0.0	5008	,	,		16953	0.003		0.0	False		,,,				2504	0.0					ENST00000358970.5																			2	Substitution - Missense(2)	p.K507E(2)	urinary_tract(1)|prostate(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1519-1521)Aaa>Gaa		POTE ankyrin domain family, member C							164.0	115.0	130.0					18																	14513675		692	1590	2282	SO:0001583	missense	388468							g.chr18:14513675T>C	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1519A>G	18.37:g.14513675T>C	ENSP00000351856:p.Lys507Glu						p.K507E	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			10	1518	-			507						Missense_Mutation	SNP	ENST00000358970.5	37	c.1519A>G	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	t	0.001	-3.812128	0.00004	.	.	ENSG00000183206	ENST00000358970	T	0.32753	1.44	1.53	-3.07	0.05363	.	.	.	.	.	T	0.10165	0.0249	N	0.11427	0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31752	-0.9932	9	0.02654	T	1	.	3.0168	0.06063	0.0:0.3604:0.2511:0.3885	.	507	B2RU33	POTEC_HUMAN	E	507	ENSP00000351856:K507E	ENSP00000351856:K507E	K	-	1	0	POTEC	14503675	0.024000	0.19004	0.012000	0.15200	0.024000	0.10985	-0.021000	0.12504	-1.054000	0.03214	-3.018000	0.00074	AAA		0.284	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		4	138	0	0	0	1	0	4	138				
CSPG4	1464	broad.mit.edu	37	15	75980335	75980335	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr15:75980335C>A	ENST00000308508.5	-	3	3163	c.3071G>T	c.(3070-3072)aGc>aTc	p.S1024I		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1024	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {ECO:0000250}.|Interaction with COL6A2. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.S1024I(1)		breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GAAGATCCGGCTGATGGTCTG	0.657																																						ENST00000308508.5																			1	Substitution - Missense(1)	p.S1024I(1)	prostate(1)	breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(3070-3072)aGc>aTc		chondroitin sulfate proteoglycan 4							39.0	44.0	42.0					15																	75980335		2197	4291	6488	SO:0001583	missense	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75980335C>A	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.3071G>T	15.37:g.75980335C>A	ENSP00000312506:p.Ser1024Ile						p.S1024I	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN			3	3163	-			1024			Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).		D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	c.3071G>T	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	14.17	2.454869	0.43634	.	.	ENSG00000173546	ENST00000308508	T	0.50277	0.75	4.89	3.0	0.34707	.	0.234980	0.38381	N	0.001719	T	0.36358	0.0964	L	0.44542	1.39	0.33411	D	0.578699	B	0.33448	0.412	B	0.34722	0.188	T	0.51156	-0.8741	10	0.72032	D	0.01	.	5.314	0.15845	0.0:0.6173:0.0:0.3827	.	1024	Q6UVK1	CSPG4_HUMAN	I	1024	ENSP00000312506:S1024I	ENSP00000312506:S1024I	S	-	2	0	CSPG4	73767390	1.000000	0.71417	0.960000	0.40013	0.984000	0.73092	2.661000	0.46758	1.057000	0.40506	0.555000	0.69702	AGC		0.657	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		4	118	1	0	1	1	1	4	118				
MIR3681HG	100506457	broad.mit.edu	37	2	12293381	12293382	+	lincRNA	INS	-	-	TCCC	rs376308629		TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr2:12293381_12293382insTCCC	ENST00000412294.1	+	0	197																											ccttccctccttccttccttcc	0.396																																						ENST00000412294.1																			0																																																			0							g.chr2:12293381_12293382insTCCC																													2.37:g.12293381_12293382insTCCC														0	197	+									RNA	INS	ENST00000412294.1	37																																																																																						0.396	AC096559.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000323583.2			2	4						2	4	---	---	---	---
LINC01317	104355287	broad.mit.edu	37	2	34041837	34041838	+	lincRNA	INS	-	-	CCTCC	rs140516377|rs141683394|rs57636772		TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr2:34041837_34041838insCCTCC	ENST00000366209.2	+	0	68																											tcttctcttctcctcccctccc	0.48																																						ENST00000366209.2																			0																																																			0							g.chr2:34041837_34041838insCCTCC																													2.37:g.34041843_34041847dupCCTCC														0	68	+									RNA	INS	ENST00000366209.2	37																																																																																						0.480	AC009499.1-002	KNOWN	non_canonical_polymorphism|basic	lincRNA	lincRNA	OTTHUMT00000325406.1			3	3						3	3	---	---	---	---
ALMS1P	200420	broad.mit.edu	37	2	73900214	73900214	+	RNA	DEL	A	A	-			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr2:73900214delA	ENST00000450720.1	+	0	737					NR_003683.2		Q96L16	ALM1L_HUMAN	Alstrom syndrome 1 pseudogene						endosomal transport (GO:0016197)|regulation of stress fiber assembly (GO:0051492)												CCCTACATGTAGGGAGAAGAA	0.557																																						ENST00000450720.1																			0																				34.0	42.0	39.0					2																	73900214		692	1591	2283			0							g.chr2:73900214delA	BC014492		2p13.2	2008-01-31	2008-01-31	2008-01-31	ENSG00000163016	ENSG00000163016			29586	pseudogene	pseudogene			"""Alstrom syndrome 1-like"""	ALMS1L		12477932	Standard	NR_003683		Approved		uc010yrl.2	Q96L16	OTTHUMG00000152773		2.37:g.73900214delA								NR_003683.2						0	737	+									RNA	DEL	ENST00000450720.1	37																																																																																						0.557	ALMS1P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000339824.1	NR_003683		2	4						2	4	---	---	---	---
PPP1R3A	5506	broad.mit.edu	37	7	113519968	113519968	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr7:113519968delT	ENST00000284601.3	-	4	1247	c.1179delA	c.(1177-1179)aaafs	p.K393fs		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	393					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CTGAGGAATATTTTTCATTGC	0.393																																						ENST00000284601.3																			0				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(1177-1179)aafs		protein phosphatase 1, regulatory subunit 3A							163.0	160.0	161.0					7																	113519968		2203	4300	6503	SO:0001589	frameshift_variant	5506				glycogen metabolic process	integral to membrane		g.chr7:113519968delT	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1179delA	7.37:g.113519968delT	ENSP00000284601:p.Lys393fs						p.K393fs	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			4	1247	-			393					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Frame_Shift_Del	DEL	ENST00000284601.3	37	c.1179delA	CCDS5759.1																																																																																				0.393	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		8	413						8	413	---	---	---	---
TBC1D3P1-DHX40P1	653645	broad.mit.edu	37	17	58090680	58090681	+	lincRNA	INS	-	-	T	rs377059774|rs201638373		TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr17:58090680_58090681insT	ENST00000407042.3	-	0	609									TBC1D3P1-DHX40P1 readthrough transcribed pseudogene																		ACTCTGAATGATTTTTTTTTTT	0.455																																						ENST00000407042.3																			0																																																			0							g.chr17:58090680_58090681insT			17q23.1	2014-09-10	2012-12-07		ENSG00000267104	ENSG00000267104			42362	other	readthrough			"""TBC1D3P1-DHX40P1 readthrough (non-protein coding)"""				Standard	NR_002924		Approved		uc002iyf.2		OTTHUMG00000179977		17.37:g.58090691_58090691dupT														0	609	-									RNA	INS	ENST00000407042.3	37																																																																																						0.455	TBC1D3P1-DHX40P1-201	KNOWN	basic	lincRNA	lincRNA		NR_002924		2	4						2	4	---	---	---	---
