#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PABPC4	8761	broad.mit.edu	37	1	40027846	40027846	+	Missense_Mutation	SNP	T	T	C	rs141368472		TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr1:40027846T>C	ENST00000372857.3	-	14	2536	c.1744A>G	c.(1744-1746)Atg>Gtg	p.M582V	PABPC4_ENST00000372862.3_Missense_Mutation_p.M553V|RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000372858.3_Missense_Mutation_p.M598V|PABPC4_ENST00000372856.3_Missense_Mutation_p.M569V	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	582	PABC. {ECO:0000255|PROSITE- ProRule:PRU00641}.				blood coagulation (GO:0007596)|RNA catabolic process (GO:0006401)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)	p.M582V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TTTGAATGCATTGTTTGGATG	0.473																																						ENST00000372857.3																			1	Substitution - Missense(1)	p.M582V(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21						c.(1744-1746)Atg>Gtg		poly(A) binding protein, cytoplasmic 4 (inducible form)		T	VAL/MET,VAL/MET,VAL/MET	1,4405	2.1+/-5.4	0,1,2202	63.0	61.0	62.0		1792,1705,1744	5.4	1.0	1	dbSNP_134	62	0,8600		0,0,4300	no	missense,missense,missense	PABPC4	NM_001135653.1,NM_001135654.1,NM_003819.3	21,21,21	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	598/661,569/632,582/645	40027846	1,13005	2203	4300	6503	SO:0001583	missense	8761				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding	g.chr1:40027846T>C	U33818	CCDS438.1, CCDS44114.1, CCDS44115.1	1p34.2	2013-02-12	2001-11-28		ENSG00000090621	ENSG00000090621		"""RNA binding motif (RRM) containing"""	8557	protein-coding gene	gene with protein product		603407	"""poly(A)-binding protein, cytoplasmic 4 (inducible form)"""			10543404	Standard	NM_001135653		Approved	iPABP, APP-1	uc001cdl.2	Q13310	OTTHUMG00000009097	ENST00000372857.3:c.1744A>G	1.37:g.40027846T>C	ENSP00000361948:p.Met582Val					PABPC4_ENST00000372862.3_Missense_Mutation_p.M553V|PABPC4_ENST00000372856.3_Missense_Mutation_p.M569V|PABPC4_ENST00000372858.3_Missense_Mutation_p.M598V	p.M582V	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		14	2536	-	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	582			PABC.		B1ANQ8|Q4VC03|Q6P0N3	Missense_Mutation	SNP	ENST00000372857.3	37	c.1744A>G	CCDS438.1	.	.	.	.	.	.	.	.	.	.	T	15.63	2.891122	0.52014	2.27E-4	0.0	ENSG00000090621	ENST00000372862;ENST00000372858;ENST00000372857;ENST00000372856	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.42	5.42	0.78866	Polyadenylate-binding protein/Hyperplastic disc protein (5);	0.035410	0.85682	D	0.000000	T	0.41213	0.1149	L	0.49256	1.55	0.58432	D	0.999997	B;B;B	0.14805	0.001;0.0;0.011	B;B;B	0.20577	0.018;0.01;0.03	T	0.24905	-1.0147	10	0.49607	T	0.09	.	15.4506	0.75271	0.0:0.0:0.0:1.0	.	582;569;598	Q13310;Q13310-2;Q4VC03	PABP4_HUMAN;.;.	V	553;598;582;569	ENSP00000361953:M553V;ENSP00000361949:M598V;ENSP00000361948:M582V;ENSP00000361947:M569V	ENSP00000361947:M569V	M	-	1	0	PABPC4	39800433	1.000000	0.71417	0.986000	0.45419	0.986000	0.74619	8.040000	0.89188	2.055000	0.61198	0.533000	0.62120	ATG		0.473	PABPC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025220.1	NM_001135653		5	141	5	141	---	---	---	---
SZT2	23334	broad.mit.edu	37	1	43897409	43897409	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr1:43897409A>G	ENST00000562955.1	+	35	4940	c.4940A>G	c.(4939-4941)gAg>gGg	p.E1647G	SZT2_ENST00000372442.1_Missense_Mutation_p.E805G	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1704					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)		p.E805G(2)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TTGGAAGATGAGATGGTGGGG	0.567																																						ENST00000562955.1																			2	Substitution - Missense(2)	p.E805G(2)	prostate(2)	NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(4939-4941)gAg>gGg		seizure threshold 2 homolog (mouse)							116.0	121.0	120.0					1																	43897409		2203	4300	6503	SO:0001583	missense	23334					peroxisome		g.chr1:43897409A>G	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.4940A>G	1.37:g.43897409A>G	ENSP00000457168:p.Glu1647Gly					SZT2_ENST00000372442.1_Missense_Mutation_p.E805G	p.E1647G	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			35	4940	+			1704					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.4940A>G	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	A	19.49	3.836741	0.71373	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.66	5.66	0.87406	.	0.057161	0.64402	D	0.000002	T	0.66858	0.2832	L	0.32530	0.975	0.35718	D	0.816958	D	0.76494	0.999	D	0.71656	0.974	T	0.75800	-0.3190	9	0.72032	D	0.01	.	15.9058	0.79427	1.0:0.0:0.0:0.0	.	1647	Q5T011-5	.	G	805	.	ENSP00000361519:E805G	E	+	2	0	SZT2	43669996	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.687000	0.91255	2.154000	0.67381	0.533000	0.62120	GAG		0.567	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		3	162	3	162	---	---	---	---
RSBN1	54665	broad.mit.edu	37	1	114319949	114319949	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr1:114319949G>C	ENST00000261441.5	-	4	1604	c.1541C>G	c.(1540-1542)tCt>tGt	p.S514C		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	514						nucleus (GO:0005634)		p.S514C(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCGGAGGCTAGAAAGTGTACC	0.428																																						ENST00000261441.5																			1	Substitution - Missense(1)	p.S514C(1)	prostate(1)	breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29						c.(1540-1542)tCt>tGt		round spermatid basic protein 1							114.0	108.0	110.0					1																	114319949		2203	4300	6503	SO:0001583	missense	54665					nucleus		g.chr1:114319949G>C	AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.1541C>G	1.37:g.114319949G>C	ENSP00000261441:p.Ser514Cys						p.S514C	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	1604	-	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)	514					A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Missense_Mutation	SNP	ENST00000261441.5	37	c.1541C>G	CCDS862.1	.	.	.	.	.	.	.	.	.	.	G	32	5.127065	0.94429	.	.	ENSG00000081019	ENST00000261441	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.82277	0.5002	M	0.82823	2.61	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.83516	0.0083	9	0.87932	D	0	-7.9635	20.2789	0.98501	0.0:0.0:1.0:0.0	.	514	Q5VWQ0	RSBN1_HUMAN	C	514	.	ENSP00000261441:S514C	S	-	2	0	RSBN1	114121472	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.731000	0.98807	2.788000	0.95919	0.650000	0.86243	TCT		0.428	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033022.2	NM_018364		40	188	40	188	---	---	---	---
CFH	3075	broad.mit.edu	37	1	196695918	196695918	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr1:196695918C>A	ENST00000367429.4	+	14	2324	c.2084C>A	c.(2083-2085)cCt>cAt	p.P695H		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	695	Sushi 12. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)	p.P695H(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GGAGATATACCTGAACTTGAA	0.353																																						ENST00000367429.4																			1	Substitution - Missense(1)	p.P695H(1)	prostate(1)	NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(2083-2085)cCt>cAt		complement factor H							116.0	117.0	116.0					1																	196695918		2203	4300	6503	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196695918C>A	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.2084C>A	1.37:g.196695918C>A	ENSP00000356399:p.Pro695His						p.P695H	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			14	2324	+			695			Sushi 12.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000367429.4	37	c.2084C>A	CCDS1385.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.934165	0.92458	.	.	ENSG00000000971	ENST00000367429	T	0.68479	-0.33	5.8	5.8	0.92144	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	D	0.85362	0.5679	M	0.91510	3.215	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87897	0.2688	9	0.72032	D	0.01	.	15.5488	0.76129	0.0:1.0:0.0:0.0	.	695	P08603	CFAH_HUMAN	H	695	ENSP00000356399:P695H	ENSP00000356399:P695H	P	+	2	0	CFH	194962541	0.232000	0.23762	0.164000	0.22755	0.918000	0.54935	3.433000	0.52834	2.742000	0.94016	0.655000	0.94253	CCT		0.353	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		29	169	29	169	---	---	---	---
ASPM	259266	broad.mit.edu	37	1	197104365	197104365	+	Silent	SNP	G	G	C			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr1:197104365G>C	ENST00000367409.4	-	5	2290	c.2034C>G	c.(2032-2034)ccC>ccG	p.P678P	ASPM_ENST00000367408.1_5'Flank|ASPM_ENST00000294732.7_Silent_p.P678P	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	678					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.P678P(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TCGGGTGTCTGGGAATATCTA	0.333																																						ENST00000367409.4																			1	Substitution - coding silent(1)	p.P678P(1)	prostate(1)	breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(2032-2034)ccC>ccG		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							60.0	60.0	60.0					1																	197104365		2203	4300	6503	SO:0001819	synonymous_variant	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197104365G>C	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.2034C>G	1.37:g.197104365G>C						ASPM_ENST00000294732.7_Silent_p.P678P	p.P678P	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			5	2290	-			678					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	ENST00000367409.4	37	c.2034C>G	CCDS1389.1																																																																																				0.333	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		12	100	12	100	---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228462137	228462137	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr1:228462137C>T	ENST00000422127.1	+	19	5719	c.5675C>T	c.(5674-5676)aCc>aTc	p.T1892I	RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000570156.2_Missense_Mutation_p.T2267I|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.T739I|RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000284548.11_Missense_Mutation_p.T1892I|RP5-1139B12.3_ENST00000602947.1_RNA	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1892	Ig-like 18.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.T2175I(1)|p.T1892I(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCGCAGCTCACCGTCAGTGGT	0.642																																						ENST00000570156.2																			2	Substitution - Missense(2)	p.T2175I(1)|p.T1892I(1)	prostate(2)	NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(6799-6801)aCc>aTc		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							31.0	37.0	35.0					1																	228462137		2172	4270	6442	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228462137C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.5675C>T	1.37:g.228462137C>T	ENSP00000409493:p.Thr1892Ile					OBSCN_ENST00000422127.1_Missense_Mutation_p.T1892I|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.T739I|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.T1892I	p.T2267I	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			23	6874	+		Prostate(94;0.0405)	1250					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.6800C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.418200	0.62622	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599	T;T;T	0.56275	0.47;0.47;0.47	5.29	2.29	0.28610	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.479752	0.19371	N	0.115905	T	0.60366	0.2263	L	0.53729	1.69	0.20563	N	0.999881	D;D	0.76494	0.999;0.98	D;P	0.68483	0.958;0.713	T	0.47983	-0.9074	10	0.36615	T	0.2	.	6.7154	0.23300	0.1341:0.6658:0.1292:0.0709	.	1892;1892	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	I	1892;1892;739	ENSP00000284548:T1892I;ENSP00000409493:T1892I;ENSP00000352613:T739I	ENSP00000284548:T1892I	T	+	2	0	OBSCN	226528760	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.659000	0.24994	0.284000	0.22305	0.555000	0.69702	ACC		0.642	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		6	32	6	32	---	---	---	---
GNPAT	8443	broad.mit.edu	37	1	231377146	231377146	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr1:231377146A>G	ENST00000366647.4	+	1	191	c.22A>G	c.(22-24)Aac>Gac	p.N8D	C1orf131_ENST00000318906.2_5'Flank|C1orf131_ENST00000366651.3_5'Flank|C1orf131_ENST00000366649.2_5'Flank|C1orf131_ENST00000471936.1_5'Flank|GNPAT_ENST00000366646.3_Missense_Mutation_p.N8D	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	8	Poly-Ser.				cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)	p.N8D(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				CAGTTCATCTAACTCTTATTT	0.617																																						ENST00000366647.4																			1	Substitution - Missense(1)	p.N8D(1)	prostate(1)	breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23						c.(22-24)Aac>Gac		glyceronephosphate O-acyltransferase							103.0	112.0	109.0					1																	231377146		2203	4300	6503	SO:0001583	missense	8443				ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity	g.chr1:231377146A>G	AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024	ENST00000366647.4:c.22A>G	1.37:g.231377146A>G	ENSP00000355607:p.Asn8Asp					GNPAT_ENST00000366646.3_Missense_Mutation_p.N8D	p.N8D	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN			1	191	+	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)	8			Poly-Ser.		B4DNM9|Q5TBH7|Q9BWC2	Missense_Mutation	SNP	ENST00000366647.4	37	c.22A>G	CCDS1592.1	.	.	.	.	.	.	.	.	.	.	A	9.817	1.184851	0.21870	.	.	ENSG00000116906	ENST00000436239;ENST00000366647;ENST00000366646;ENST00000416000	D;T;T;T	0.87179	-2.22;0.0;-0.55;0.0	4.75	-0.181	0.13291	.	1.194560	0.06247	N	0.691350	T	0.81777	0.4894	L	0.44542	1.39	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.08055	0.003;0.003	T	0.68100	-0.5498	10	0.72032	D	0.01	-26.7412	7.0695	0.25171	0.5452:0.0:0.4548:0.0	.	8;8	B4DNM9;O15228	.;GNPAT_HUMAN	D	8	ENSP00000402811:N8D;ENSP00000355607:N8D;ENSP00000355606:N8D;ENSP00000411640:N8D	ENSP00000355606:N8D	N	+	1	0	GNPAT	229443769	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.553000	0.23391	0.038000	0.15604	-0.256000	0.11100	AAC		0.617	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092871.1			26	162	26	162	---	---	---	---
USP34	9736	broad.mit.edu	37	2	61415488	61415488	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr2:61415488C>A	ENST00000398571.2	-	80	10466	c.10390G>T	c.(10390-10392)Gaa>Taa	p.E3464*	AHSA2_ENST00000394457.3_3'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3464					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.E3464*(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TCAGATTCTTCCTCAGCTAGG	0.463																																						ENST00000398571.2																			1	Substitution - Nonsense(1)	p.E3464*(1)	prostate(1)	autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(10390-10392)Gaa>Taa		ubiquitin specific peptidase 34							85.0	79.0	81.0					2																	61415488		1885	4128	6013	SO:0001587	stop_gained	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61415488C>A	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.10390G>T	2.37:g.61415488C>A	ENSP00000381577:p.Glu3464*					AHSA2_ENST00000394457.3_3'UTR	p.E3464*	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		80	10466	-			3464					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Nonsense_Mutation	SNP	ENST00000398571.2	37	c.10390G>T	CCDS42686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	38|38	6.914123|6.914123	0.97932|0.97932	.|.	.|.	ENSG00000115464|ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571;ENST00000436269|ENST00000411912	.|.	.|.	.|.	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	0.222267|.	0.45867|.	D|.	0.000327|.	.|T	.|0.76463	.|0.3991	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74423	.|-0.3670	.|4	0.25751|.	T|.	0.34|.	.|.	19.8041|19.8041	0.96521|0.96521	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|V	3312;3229;3464;342|1140	.|.	ENSP00000263989:E3312X|.	E|G	-|-	1|2	0|0	USP34|USP34	61268992|61268992	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.984000|0.984000	0.73092|0.73092	4.655000|4.655000	0.61476|0.61476	2.748000|2.748000	0.94277|0.94277	0.591000|0.591000	0.81541|0.81541	GAA|GGA		0.463	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			4	157	4	157	---	---	---	---
KYNU	8942	broad.mit.edu	37	2	143790837	143790837	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr2:143790837C>T	ENST00000264170.4	+	12	1246	c.988C>T	c.(988-990)Cga>Tga	p.R330*	KYNU_ENST00000409512.1_Nonsense_Mutation_p.R330*	NM_003937.2	NP_003928.1			kynureninase									p.R330*(1)		large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		CTGTGGATTCCGAATTTCAAA	0.373																																						ENST00000264170.4																			1	Substitution - Nonsense(1)	p.R330*(1)	prostate(1)	large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36						c.(988-990)Cga>Tga		kynureninase	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)						306.0	298.0	301.0					2																	143790837		2203	4300	6503	SO:0001587	stop_gained	8942				anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity	g.chr2:143790837C>T	U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"""L-kynurenine hydrolase"""	605197	"""kynureninase (L-kynurenine hydrolase)"""			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000264170.4:c.988C>T	2.37:g.143790837C>T	ENSP00000264170:p.Arg330*					KYNU_ENST00000409512.1_Nonsense_Mutation_p.R330*	p.R330*	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.072)	12	1246	+			330						Nonsense_Mutation	SNP	ENST00000264170.4	37	c.988C>T	CCDS2183.1	.	.	.	.	.	.	.	.	.	.	C	38	7.173284	0.98114	.	.	ENSG00000115919	ENST00000264170;ENST00000409512	.	.	.	6.03	5.14	0.70334	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	15.0364	0.71751	0.1422:0.8578:0.0:0.0	.	.	.	.	X	330	.	ENSP00000264170:R330X	R	+	1	2	KYNU	143507307	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	2.658000	0.46733	1.526000	0.49068	0.655000	0.94253	CGA		0.373	KYNU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254772.1	NM_001032998		63	486	63	486	---	---	---	---
SP140L	93349	broad.mit.edu	37	2	231222557	231222557	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr2:231222557G>T	ENST00000415673.2	+	3	231	c.145G>T	c.(145-147)Gtc>Ttc	p.V49F	SP140L_ENST00000444636.1_Missense_Mutation_p.V49F|SP140L_ENST00000396563.4_Missense_Mutation_p.V49F|SP140L_ENST00000243810.6_Missense_Mutation_p.V49F|SP140_ENST00000486687.2_3'UTR|SP140L_ENST00000458341.1_5'UTR	NM_138402.4	NP_612411.4	Q9H930	SP14L_HUMAN	SP140 nuclear body protein-like	49	HSR. {ECO:0000255|PROSITE- ProRule:PRU00747}.					nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.V49F(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						TGAGGGACTTGTCTATGACAC	0.423																																						ENST00000243810.6																			1	Substitution - Missense(1)	p.V49F(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						c.(145-147)Gtc>Ttc		SP140 nuclear body protein-like							204.0	208.0	206.0					2																	231222557		2178	4295	6473	SO:0001583	missense	93349					nucleus	DNA binding|metal ion binding	g.chr2:231222557G>T	BC004921	CCDS46538.1	2q37.1	2013-01-28			ENSG00000185404	ENSG00000185404		"""Zinc fingers, PHD-type"""	25105	protein-coding gene	gene with protein product						12477932	Standard	NM_138402		Approved		uc010fxm.1	Q9H930	OTTHUMG00000153730	ENST00000415673.2:c.145G>T	2.37:g.231222557G>T	ENSP00000397911:p.Val49Phe					SP140L_ENST00000396563.4_Missense_Mutation_p.V49F|SP140_ENST00000486687.2_3'UTR|SP140L_ENST00000444636.1_Missense_Mutation_p.V49F|SP140L_ENST00000415673.2_Missense_Mutation_p.V49F|SP140L_ENST00000458341.1_5'UTR	p.V49F			Q9H930	LY10L_HUMAN			3	145	+			49			HSR.		Q2M375|Q4ZG65|Q9BSP3	Missense_Mutation	SNP	ENST00000415673.2	37	c.145G>T	CCDS46538.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.753311	0.00085	.	.	ENSG00000185404	ENST00000444636;ENST00000415673;ENST00000243810;ENST00000396563	D;D;D;D	0.94330	-3.4;-3.4;-3.4;-3.4	3.23	-6.47	0.01902	.	.	.	.	.	T	0.79052	0.4381	N	0.05441	-0.05	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.61153	-0.7120	9	0.34782	T	0.22	.	0.1006	0.00048	0.2774:0.189:0.2511:0.2825	.	49	Q9H930-4	.	F	49	ENSP00000395195:V49F;ENSP00000397911:V49F;ENSP00000243810:V49F;ENSP00000379811:V49F	ENSP00000243810:V49F	V	+	1	0	SP140L	230930801	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.603000	0.00060	-4.008000	0.00082	-2.842000	0.00104	GTC		0.423	SP140L-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374538.1	NM_138402		14	454	14	454	---	---	---	---
SETD2	29072	broad.mit.edu	37	3	47163433	47163433	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr3:47163433A>C	ENST00000409792.3	-	3	2735	c.2693T>G	c.(2692-2694)tTg>tGg	p.L898W		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	898					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.L395W(1)|p.L898W(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCCGCATTTCAAGAGAGTTAG	0.378			"""N, F, S, Mis"""		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"""N, F, S, Mis"""	SET domain containing 2			E			clear cell renal carcinoma		2	Substitution - Missense(2)	p.L395W(1)|p.L898W(1)	prostate(2)	breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(2692-2694)tTg>tGg		SET domain containing 2							99.0	103.0	102.0					3																	47163433		2203	4300	6503	SO:0001583	missense	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47163433A>C	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.2693T>G	3.37:g.47163433A>C	ENSP00000386759:p.Leu898Trp						p.L898W	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	3	2735	-		Acute lymphoblastic leukemia(5;0.0169)	898					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	c.2693T>G	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	A	13.51	2.259475	0.39995	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	D;T	0.90732	-2.72;1.15	4.39	4.39	0.52855	.	0.461885	0.17427	N	0.174604	D	0.85177	0.5637	N	0.08118	0	0.09310	N	1	D;D	0.58620	0.983;0.983	P;P	0.56127	0.792;0.792	T	0.76146	-0.3066	10	0.72032	D	0.01	.	5.4218	0.16403	0.839:0.0:0.161:0.0	.	898;898	F2Z317;Q9BYW2	.;SETD2_HUMAN	W	898;898;898;854	ENSP00000386759:L898W;ENSP00000416401:L854W	ENSP00000386759:L898W	L	-	2	0	SETD2	47138437	0.048000	0.20356	0.977000	0.42913	0.884000	0.51177	2.191000	0.42640	1.831000	0.53308	0.533000	0.62120	TTG		0.378	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		8	273	8	273	---	---	---	---
MYH15	22989	broad.mit.edu	37	3	108112995	108112995	+	Silent	SNP	G	G	A	rs200118280	byFrequency	TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr3:108112995G>A	ENST00000273353.3	-	37	5258	c.5202C>T	c.(5200-5202)agC>agT	p.S1734S		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1734						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.S1734S(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GGCTGAGGAGGCTTGTGTTCT	0.478													G|||	2	0.000399361	0.0015	0.0	5008	,	,		21106	0.0		0.0	False		,,,				2504	0.0					ENST00000273353.3																			1	Substitution - coding silent(1)	p.S1734S(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						c.(5200-5202)agC>agT		myosin, heavy chain 15		G		3,4013		0,3,2005	82.0	85.0	84.0		5202	-2.8	0.9	3		84	0,8360		0,0,4180	no	coding-synonymous	MYH15	NM_014981.1		0,3,6185	AA,AG,GG		0.0,0.0747,0.0242		1734/1947	108112995	3,12373	2008	4180	6188	SO:0001819	synonymous_variant	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108112995G>A	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.5202C>T	3.37:g.108112995G>A							p.S1734S	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN			37	5258	-			1734						Silent	SNP	ENST00000273353.3	37	c.5202C>T	CCDS43127.1																																																																																				0.478	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		30	150	30	150	---	---	---	---
FAM134B	54463	broad.mit.edu	37	5	16475005	16475005	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr5:16475005T>C	ENST00000306320.9	-	9	1425	c.1339A>G	c.(1339-1341)Aca>Gca	p.T447A	FAM134B_ENST00000399793.2_Missense_Mutation_p.T306A	NM_001034850.2	NP_001030022.1	Q9H6L5	F134B_HUMAN	family with sequence similarity 134, member B	447					sensory perception of pain (GO:0019233)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.T447A(1)		breast(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(1)	16						TCAGTGTCTGTGTCCTCTTCT	0.493																																						ENST00000306320.9																			1	Substitution - Missense(1)	p.T447A(1)	prostate(1)	breast(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(1)	16						c.(1339-1341)Aca>Gca		family with sequence similarity 134, member B							98.0	97.0	97.0					5																	16475005		1983	4178	6161	SO:0001583	missense	54463				sensory perception of pain	cis-Golgi network|endoplasmic reticulum|integral to membrane		g.chr5:16475005T>C	BC053326	CCDS43304.1, CCDS43305.1	5p15.1	2014-09-17			ENSG00000154153	ENSG00000154153			25964	protein-coding gene	gene with protein product		613114				19838196, 24327336	Standard	NM_001034850		Approved	FLJ20152	uc003jfs.3	Q9H6L5	OTTHUMG00000161788	ENST00000306320.9:c.1339A>G	5.37:g.16475005T>C	ENSP00000304642:p.Thr447Ala					FAM134B_ENST00000399793.2_Missense_Mutation_p.T306A	p.T447A	NM_001034850.2	NP_001030022.1	Q9H6L5	F134B_HUMAN			9	1425	-			447					Q69YN8|Q9H6K6|Q9H764|Q9NXM8	Missense_Mutation	SNP	ENST00000306320.9	37	c.1339A>G	CCDS43304.1	.	.	.	.	.	.	.	.	.	.	T	16.41	3.115038	0.56505	.	.	ENSG00000154153	ENST00000399793;ENST00000306320	T;T	0.46819	0.89;0.86	5.82	5.82	0.92795	.	0.051112	0.85682	D	0.000000	T	0.64940	0.2644	L	0.56769	1.78	0.44908	D	0.997923	D;D	0.71674	0.997;0.998	D;D	0.80764	0.985;0.994	T	0.62445	-0.6853	10	0.35671	T	0.21	-19.4205	16.1832	0.81925	0.0:0.0:0.0:1.0	.	447;306	Q9H6L5;Q9H6L5-2	F134B_HUMAN;.	A	306;447	ENSP00000382691:T306A;ENSP00000304642:T447A	ENSP00000304642:T447A	T	-	1	0	FAM134B	16528005	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.373000	0.59537	2.218000	0.71995	0.533000	0.62120	ACA		0.493	FAM134B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000366090.1	NM_001034850		21	133	21	133	---	---	---	---
XXbac-BPG308J9.3	0	broad.mit.edu	37	6	29230640	29230640	+	lincRNA	SNP	G	G	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr6:29230640G>T	ENST00000441381.1	+	0	79																		p.A240E(1)									GGTCCCAAATGCTTTTTGTCT	0.418																																						ENST00000441381.1																			1	Substitution - Missense(1)	p.A240E(1)	prostate(1)																	115.0	101.0	106.0					6																	29230640		1944	4140	6084			101929006							g.chr6:29230640G>T																													6.37:g.29230640G>T														0	79	+									RNA	SNP	ENST00000441381.1	37																																																																																						0.418	XXbac-BPG308J9.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000192829.1			21	134	21	134	---	---	---	---
VARS2	57176	broad.mit.edu	37	6	30884893	30884893	+	Silent	SNP	G	G	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr6:30884893G>T	ENST00000321897.5	+	8	1397	c.765G>T	c.(763-765)gtG>gtT	p.V255V	VARS2_ENST00000416670.2_Silent_p.V255V|VARS2_ENST00000542001.1_Silent_p.V115V|VARS2_ENST00000541562.1_Silent_p.V285V			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	255					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)	p.V255V(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						GCTCCTCAGTGGCTGTGACTG	0.567																																						ENST00000321897.5																			1	Substitution - coding silent(1)	p.V255V(1)	prostate(1)	central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						c.(763-765)gtG>gtT		valyl-tRNA synthetase 2, mitochondrial							149.0	146.0	147.0					6																	30884893		1511	2709	4220	SO:0001819	synonymous_variant	57176				valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity	g.chr6:30884893G>T	AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	21642	protein-coding gene	gene with protein product	"""valine tRNA ligase 2, mitochondrial"""	612802	"""valyl-tRNA synthetase 2-like"", ""valyl-tRNA synthetase like"", ""valyl-tRNA synthetase 2, mitochondrial (putative)"""	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.765G>T	6.37:g.30884893G>T						VARS2_ENST00000416670.2_Silent_p.V255V|VARS2_ENST00000542001.1_Silent_p.V115V|VARS2_ENST00000541562.1_Silent_p.V285V	p.V255V			Q5ST30	SYVM_HUMAN			8	1397	+			255					A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Silent	SNP	ENST00000321897.5	37	c.765G>T	CCDS34387.1	.	.	.	.	.	.	.	.	.	.	G	6.265	0.417011	0.11870	.	.	ENSG00000137411	ENST00000413959	.	.	.	4.98	0.789	0.18607	.	.	.	.	.	T	0.32793	0.0841	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39881	-0.9592	5	0.59425	D	0.04	-0.5534	0.5978	0.00739	0.3087:0.1711:0.3445:0.1757	.	.	.	.	C	255	.	ENSP00000396752:G255C	G	+	1	0	VARS2	30992872	0.221000	0.23642	0.667000	0.29798	0.684000	0.39900	0.468000	0.22051	0.262000	0.21774	0.655000	0.94253	GGC		0.567	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	NM_020442		4	159	4	159	---	---	---	---
EHMT2	10919	broad.mit.edu	37	6	31850727	31850727	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr6:31850727G>T	ENST00000375537.4	-	24	3060	c.3054C>A	c.(3052-3054)aaC>aaA	p.N1018K	EHMT2_ENST00000395728.3_Missense_Mutation_p.N1075K|EHMT2_ENST00000375530.4_Missense_Mutation_p.N984K|EHMT2-AS1_ENST00000434689.1_RNA|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Missense_Mutation_p.N1041K	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	1018	Pre-SET. {ECO:0000255|PROSITE- ProRule:PRU00157}.				DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)	p.N1018K(1)		central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						AGCACGCCTGGTTACACTCGA	0.572																																						ENST00000395728.3																			1	Substitution - Missense(1)	p.N1018K(1)	prostate(1)	central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						c.(3223-3225)aaC>aaA		euchromatic histone-lysine N-methyltransferase 2							73.0	73.0	73.0					6																	31850727		1511	2709	4220	SO:0001583	missense	10919				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr6:31850727G>T	AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	14129	protein-coding gene	gene with protein product		604599	"""chromosome 6 open reading frame 30"", ""HLA-B associated transcript 8"""	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.3054C>A	6.37:g.31850727G>T	ENSP00000364687:p.Asn1018Lys					EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375537.4_Missense_Mutation_p.N1018K|EHMT2_ENST00000375530.4_Missense_Mutation_p.N984K|EHMT2_ENST00000375528.4_Missense_Mutation_p.N1041K	p.N1075K			Q96KQ7	EHMT2_HUMAN			23	3224	-			1018			Interaction with histone H3 (By similarity).|SET.		B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Missense_Mutation	SNP	ENST00000375537.4	37	c.3225C>A	CCDS4725.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.917242	0.73098	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7	4.24	3.38	0.38709	Pre-SET zinc-binding sub-group (1);Pre-SET domain (2);	0.000000	0.85682	D	0.000000	D	0.95582	0.8564	H	0.95574	3.69	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.996;0.999;0.999	D	0.95854	0.8877	10	0.87932	D	0	.	10.9563	0.47360	0.0932:0.0:0.9067:0.0	.	1041;984;1018;839	A2ABF8;Q96KQ7-2;Q96KQ7;Q59FM7	.;.;EHMT2_HUMAN;.	K	1075;1041;984;1018;839	ENSP00000379078:N1075K;ENSP00000364678:N1041K;ENSP00000364680:N984K;ENSP00000364687:N1018K	ENSP00000364678:N1041K	N	-	3	2	EHMT2	31958706	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	4.542000	0.60677	1.011000	0.39340	0.561000	0.74099	AAC		0.572	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709		4	76	4	76	---	---	---	---
GLTSCR1L	23506	broad.mit.edu	37	6	42824964	42824964	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr6:42824964C>A	ENST00000314073.5	+	10	2420	c.2244C>A	c.(2242-2244)gaC>gaA	p.D748E	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.D748E			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	748								p.D748E(1)									CTGAAGAAGACTTGAGAAAAG	0.542																																						ENST00000314073.5																			1	Substitution - Missense(1)	p.D748E(1)	prostate(1)								c.(2242-2244)gaC>gaA		GLTSCR1-like							145.0	127.0	133.0					6																	42824964		2203	4300	6503	SO:0001583	missense	23506							g.chr6:42824964C>A	AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"""KIAA0240"""	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.2244C>A	6.37:g.42824964C>A	ENSP00000313933:p.Asp748Glu					GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.D748E	p.D748E							10	2420	+								A1L3W2|Q5TFZ3|Q92514	Missense_Mutation	SNP	ENST00000314073.5	37	c.2244C>A	CCDS34451.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.775456	0.49786	.	.	ENSG00000112624	ENST00000394167;ENST00000536004;ENST00000314073;ENST00000394168	T;T	0.56444	0.46;0.46	5.87	3.87	0.44632	.	0.000000	0.64402	D	0.000001	T	0.19046	0.0457	N	0.20766	0.605	0.33231	D	0.555888	B	0.12013	0.005	B	0.19666	0.026	T	0.07809	-1.0753	10	0.62326	D	0.03	-11.5146	7.1354	0.25525	0.0:0.69:0.0:0.31	.	748	Q6AI39	K0240_HUMAN	E	748	ENSP00000313933:D748E;ENSP00000377723:D748E	ENSP00000313933:D748E	D	+	3	2	KIAA0240	42932942	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	1.233000	0.32648	1.517000	0.48917	0.650000	0.86243	GAC		0.542	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3	NM_015349		20	131	20	131	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51889566	51889566	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr6:51889566G>T	ENST00000371117.3	-	32	5317	c.5042C>A	c.(5041-5043)gCa>gAa	p.A1681E	PKHD1_ENST00000340994.4_Missense_Mutation_p.A1681E	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1681	IPT/TIG 12; atypical.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.A1681E(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GTCAATGTTTGCAGCTCCTGA	0.493																																						ENST00000371117.3																			1	Substitution - Missense(1)	p.A1681E(1)	prostate(1)	NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(5041-5043)gCa>gAa		polycystic kidney and hepatic disease 1 (autosomal recessive)							82.0	80.0	80.0					6																	51889566		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51889566G>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.5042C>A	6.37:g.51889566G>T	ENSP00000360158:p.Ala1681Glu					PKHD1_ENST00000340994.4_Missense_Mutation_p.A1681E	p.A1681E	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			32	5317	-	Lung NSC(77;0.0605)		1681			IPT/TIG 12; atypical.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.5042C>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-2.009436	0.00426	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87029	-1.99;-2.2	5.55	-11.1	0.00147	.	3.102080	0.00654	N	0.000578	T	0.43897	0.1268	N	0.12182	0.205	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.001	T	0.49143	-0.8970	10	0.02654	T	1	.	11.2369	0.48946	0.0829:0.0:0.4894:0.4277	.	1681;1681	P08F94-2;P08F94	.;PKHD1_HUMAN	E	1681	ENSP00000360158:A1681E;ENSP00000341097:A1681E	ENSP00000341097:A1681E	A	-	2	0	PKHD1	51997525	0.000000	0.05858	0.000000	0.03702	0.213000	0.24496	-1.713000	0.01883	-3.330000	0.00186	-0.175000	0.13238	GCA		0.493	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		4	177	4	177	---	---	---	---
DPY19L2P1	554236	broad.mit.edu	37	7	35142675	35142675	+	RNA	SNP	C	C	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr7:35142675C>T	ENST00000436258.1	-	0	1811							Q6NXN4	D19P1_HUMAN	DPY19L2 pseudogene 1							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										ATTATCAAAACGAACTCTGCG	0.338																																						ENST00000436258.1																			0																																																			554236							g.chr7:35142675C>T	BC066987		7p14.2	2014-03-18	2013-09-12		ENSG00000189212	ENSG00000189212			22305	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 1 (C. elegans)"""				Standard	NR_002833		Approved		uc031swy.1	Q6NXN4	OTTHUMG00000155026		7.37:g.35142675C>T														0	1811	-								B4E2E3	RNA	SNP	ENST00000436258.1	37																																																																																						0.338	DPY19L2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000338113.1			3	73	3	73	---	---	---	---
PON1	5444	broad.mit.edu	37	7	94940824	94940824	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr7:94940824A>C	ENST00000222381.3	-	5	667	c.436T>G	c.(436-438)Ttt>Gtt	p.F146V	PON1_ENST00000542556.1_Missense_Mutation_p.F146V	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	146					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|dephosphorylation (GO:0016311)|organophosphate catabolic process (GO:0046434)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of binding (GO:0051099)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of transporter activity (GO:0032411)|response to external stimulus (GO:0009605)|response to toxic substance (GO:0009636)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|intracellular membrane-bounded organelle (GO:0043231)|spherical high-density lipoprotein particle (GO:0034366)	aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)	p.F146V(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Cefazolin(DB01327)	TCTTCTTGAAATTTAAACAAC	0.353																																					GBM(119;715 1622 17358 22490 33240)	ENST00000222381.3																			1	Substitution - Missense(1)	p.F146V(1)	prostate(1)	autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27						c.(436-438)Ttt>Gtt		paraoxonase 1	Atorvastatin(DB01076)|Cefazolin(DB01327)						164.0	156.0	159.0					7																	94940824		2203	4300	6503	SO:0001583	missense	5444				aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity	g.chr7:94940824A>C	AF539592	CCDS5638.1	7q21.3	2014-03-14			ENSG00000005421	ENSG00000005421	3.1.1.2	"""Paraoxonases"""	9204	protein-coding gene	gene with protein product	"""esterase A"", ""arylesterase 1"""	168820		PON		8661009, 15450851	Standard	NM_000446		Approved	ESA	uc003uns.3	P27169	OTTHUMG00000153894	ENST00000222381.3:c.436T>G	7.37:g.94940824A>C	ENSP00000222381:p.Phe146Val					PON1_ENST00000542556.1_Missense_Mutation_p.F146V	p.F146V	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		5	667	-	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		146					B2RA40|Q16052|Q6B0J6|Q9UCB1	Missense_Mutation	SNP	ENST00000222381.3	37	c.436T>G	CCDS5638.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.418233	0.83449	.	.	ENSG00000005421	ENST00000222381;ENST00000542556	T;T	0.40476	1.03;1.03	4.64	4.64	0.57946	Six-bladed beta-propeller, TolB-like (1);	0.049856	0.85682	D	0.000000	T	0.63010	0.2475	M	0.73319	2.225	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.79784	0.993;0.984	T	0.67917	-0.5546	10	0.87932	D	0	-23.3323	14.5299	0.67917	1.0:0.0:0.0:0.0	.	146;146	F5H4W9;P27169	.;PON1_HUMAN	V	146	ENSP00000222381:F146V;ENSP00000444854:F146V	ENSP00000222381:F146V	F	-	1	0	PON1	94778760	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	8.294000	0.89934	2.096000	0.63516	0.533000	0.62120	TTT		0.353	PON1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000332865.2	NM_000446		34	177	34	177	---	---	---	---
PIK3CG	5294	broad.mit.edu	37	7	106524649	106524649	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr7:106524649T>C	ENST00000359195.3	+	9	3120	c.2810T>C	c.(2809-2811)gTg>gCg	p.V937A	PIK3CG_ENST00000496166.1_Missense_Mutation_p.V937A|PIK3CG_ENST00000440650.2_Missense_Mutation_p.V937A	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	937	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V937A(2)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GGCTACTGTGTGGCAACCTTT	0.368																																						ENST00000359195.3																			2	Substitution - Missense(2)	p.V937A(2)	prostate(2)	breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(2809-2811)gTg>gCg		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma							184.0	181.0	182.0					7																	106524649		2203	4300	6503	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106524649T>C		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.2810T>C	7.37:g.106524649T>C	ENSP00000352121:p.Val937Ala					PIK3CG_ENST00000440650.2_Missense_Mutation_p.V937A|PIK3CG_ENST00000496166.1_Missense_Mutation_p.V937A	p.V937A	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN			9	3120	+			937			PI3K/PI4K.		A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.2810T>C	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.770564	0.90108	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.81247	-1.47;-1.47;-1.47	5.05	5.05	0.67936	Protein kinase-like domain (1);Phosphatidylinositol 3/4-kinase, conserved site (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.113857	0.64402	D	0.000015	D	0.89444	0.6717	M	0.83603	2.65	0.80722	D	1	D	0.64830	0.994	D	0.65874	0.939	D	0.91184	0.4978	10	0.87932	D	0	-24.5951	14.9476	0.71044	0.0:0.0:0.0:1.0	.	937	P48736	PK3CG_HUMAN	A	937	ENSP00000392258:V937A;ENSP00000419260:V937A;ENSP00000352121:V937A	ENSP00000352121:V937A	V	+	2	0	PIK3CG	106311885	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.100000	0.63781	0.533000	0.62120	GTG		0.368	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			48	267	48	267	---	---	---	---
RP1	6101	broad.mit.edu	37	8	55537506	55537506	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr8:55537506A>T	ENST00000220676.1	+	4	1212	c.1064A>T	c.(1063-1065)aAa>aTa	p.K355I		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	355					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.K355I(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACTGTCAGTAAAACTGGTCCT	0.353																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			1	Substitution - Missense(1)	p.K355I(1)	prostate(1)	NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(1063-1065)aAa>aTa		retinitis pigmentosa 1 (autosomal dominant)							61.0	58.0	59.0					8																	55537506		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55537506A>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.1064A>T	8.37:g.55537506A>T	ENSP00000220676:p.Lys355Ile						p.K355I	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	1212	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	355						Missense_Mutation	SNP	ENST00000220676.1	37	c.1064A>T	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	A	13.61	2.290038	0.40494	.	.	ENSG00000104237	ENST00000220676	T	0.26373	1.74	5.08	3.19	0.36642	.	0.207915	0.32175	N	0.006477	T	0.16727	0.0402	L	0.29908	0.895	0.32202	N	0.577742	P	0.45283	0.855	B	0.38327	0.271	T	0.16041	-1.0416	10	0.87932	D	0	.	8.3294	0.32178	0.0899:0.1585:0.7516:0.0	.	355	P56715	RP1_HUMAN	I	355	ENSP00000220676:K355I	ENSP00000220676:K355I	K	+	2	0	RP1	55700059	1.000000	0.71417	0.997000	0.53966	0.629000	0.37895	5.269000	0.65542	0.461000	0.27071	0.533000	0.62120	AAA		0.353	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		10	60	10	60	---	---	---	---
LCN12	286256	broad.mit.edu	37	9	139847394	139847394	+	Silent	SNP	G	G	A	rs62580418		TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr9:139847394G>A	ENST00000371633.3	+	2	165	c.165G>A	c.(163-165)ccG>ccA	p.P55P		NM_178536.3	NP_848631.2	Q6JVE5	LCN12_HUMAN	lipocalin 12	55					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)	p.P55P(1)		endometrium(1)|kidney(1)|lung(1)|prostate(2)	5	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		GCTTCAGGCCGGAGCACAGGG	0.637																																						ENST00000371633.3																			1	Substitution - coding silent(1)	p.P55P(1)	prostate(1)	endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						c.(163-165)ccG>ccA		lipocalin 12							110.0	127.0	121.0					9																	139847394		2155	4242	6397	SO:0001819	synonymous_variant	286256				lipid metabolic process	extracellular region	binding|transporter activity	g.chr9:139847394G>A	BC041168	CCDS7018.2	9q34	2011-10-24	2007-12-18		ENSG00000184925	ENSG00000184925		"""Lipocalins"""	28733	protein-coding gene	gene with protein product		612905				15363845	Standard	XM_005266068		Approved	MGC48935	uc004ckb.3	Q6JVE5	OTTHUMG00000020968	ENST00000371633.3:c.165G>A	9.37:g.139847394G>A							p.P55P	NM_178536.3	NP_848631.2	Q6JVE5	LCN12_HUMAN	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)	2	165	+	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	55					A2AMJ7	Silent	SNP	ENST00000371633.3	37	c.165G>A	CCDS7018.2																																																																																				0.637	LCN12-015	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257990.1	NM_178536		39	233	39	233	---	---	---	---
LRIT2	340745	broad.mit.edu	37	10	85981795	85981795	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr10:85981795C>A	ENST00000372113.4	-	3	1539	c.1534G>T	c.(1534-1536)Gca>Tca	p.A512S	LRIT2_ENST00000538192.1_Missense_Mutation_p.A522S	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	512						integral component of membrane (GO:0016021)		p.A512S(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						TGCGGGGCTGCAGGGGTGCAG	0.627																																						ENST00000372113.4																			1	Substitution - Missense(1)	p.A512S(1)	prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						c.(1534-1536)Gca>Tca		leucine-rich repeat, immunoglobulin-like and transmembrane domains 2							59.0	65.0	63.0					10																	85981795		2201	4298	6499	SO:0001583	missense	340745					integral to membrane		g.chr10:85981795C>A		CCDS31234.1, CCDS60581.1	10q23.2	2013-01-11	2007-06-19	2007-06-19	ENSG00000204033	ENSG00000204033		"""Immunoglobulin superfamily / I-set domain containing"""	23443	protein-coding gene	gene with protein product			"""leucine rich repeat containing 22"""	LRRC22			Standard	NM_001017924		Approved	AC022389.4	uc001kcy.3	A6NDA9	OTTHUMG00000018633	ENST00000372113.4:c.1534G>T	10.37:g.85981795C>A	ENSP00000361185:p.Ala512Ser					LRIT2_ENST00000538192.1_Missense_Mutation_p.A522S	p.A512S	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN			3	1539	-			512					B7ZME6	Missense_Mutation	SNP	ENST00000372113.4	37	c.1534G>T	CCDS31234.1	.	.	.	.	.	.	.	.	.	.	C	18.41	3.617013	0.66672	.	.	ENSG00000204033	ENST00000372113;ENST00000538192	T;T	0.18502	2.21;2.21	5.06	4.14	0.48551	.	0.715824	0.13497	N	0.383548	T	0.07503	0.0189	N	0.08118	0	0.40164	D	0.97709	P;P	0.44816	0.844;0.844	B;B	0.36666	0.23;0.23	T	0.29822	-0.9999	10	0.18710	T	0.47	.	9.9849	0.41835	0.0:0.9005:0.0:0.0995	.	522;512	B7ZME6;A6NDA9	.;LRIT2_HUMAN	S	512;522	ENSP00000361185:A512S;ENSP00000438264:A522S	ENSP00000361185:A512S	A	-	1	0	LRIT2	85971775	0.059000	0.20769	0.097000	0.21041	0.094000	0.18550	0.713000	0.25794	2.525000	0.85131	0.655000	0.94253	GCA		0.627	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049110.4	XM_291697		4	157	4	157	---	---	---	---
CAPZA3	93661	broad.mit.edu	37	12	18891209	18891209	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr12:18891209C>G	ENST00000317658.3	+	1	165	c.7C>G	c.(7-9)Ctt>Gtt	p.L3V	RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000539875.1_5'Flank|PLCZ1_ENST00000435379.1_5'Flank|PLCZ1_ENST00000266505.7_5'Flank|PLCZ1_ENST00000447925.2_5'Flank	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	3					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cortical cytoskeleton (GO:0030863)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|nucleus (GO:0005634)|WASH complex (GO:0071203)		p.L3V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				AAACATGACACTTAGCGTGCT	0.438																																						ENST00000317658.3																			1	Substitution - Missense(1)	p.L3V(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19						c.(7-9)Ctt>Gtt		capping protein (actin filament) muscle Z-line, alpha 3							82.0	80.0	80.0					12																	18891209		2203	4299	6502	SO:0001583	missense	93661				actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding	g.chr12:18891209C>G	AB053259	CCDS8681.1	12p12.3	2008-02-05			ENSG00000177938	ENSG00000177938			24205	protein-coding gene	gene with protein product		608722				12029070	Standard	NM_033328		Approved	Gsg3, CAPPA3	uc001rdy.3	Q96KX2	OTTHUMG00000169001	ENST00000317658.3:c.7C>G	12.37:g.18891209C>G	ENSP00000326238:p.Leu3Val						p.L3V	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN			1	165	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)	3					Q969J0	Missense_Mutation	SNP	ENST00000317658.3	37	c.7C>G	CCDS8681.1	.	.	.	.	.	.	.	.	.	.	C	8.795	0.931438	0.18131	.	.	ENSG00000177938	ENST00000317658	.	.	.	5.31	4.35	0.52113	.	0.466123	0.19910	N	0.103315	T	0.22513	0.0543	N	0.08118	0	0.19300	N	0.999979	B	0.16603	0.018	B	0.16722	0.016	T	0.08066	-1.0740	9	0.33141	T	0.24	-9.6728	10.264	0.43445	0.2104:0.7896:0.0:0.0	.	3	Q96KX2	CAZA3_HUMAN	V	3	.	ENSP00000326238:L3V	L	+	1	0	CAPZA3	18782476	0.095000	0.21747	0.958000	0.39756	0.469000	0.32828	0.732000	0.26072	2.763000	0.94921	0.563000	0.77884	CTT		0.438	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401902.1	NM_033328		4	201	4	201	---	---	---	---
OR6C76	390326	broad.mit.edu	37	12	55820712	55820712	+	Silent	SNP	C	C	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr12:55820712C>T	ENST00000328314.3	+	1	675	c.675C>T	c.(673-675)atC>atT	p.I225I		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	225						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I225I(1)		NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TTCTGAGAATCCCCTCAGCAC	0.363																																						ENST00000328314.3																			1	Substitution - coding silent(1)	p.I225I(1)	prostate(1)	NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(673-675)atC>atT		olfactory receptor, family 6, subfamily C, member 76							110.0	100.0	103.0					12																	55820712		2203	4300	6503	SO:0001819	synonymous_variant	390326				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55820712C>T		CCDS31823.1	12q13.2	2013-09-23			ENSG00000185821	ENSG00000185821		"""GPCR / Class A : Olfactory receptors"""	31305	protein-coding gene	gene with protein product							Standard	NM_001005183		Approved		uc010spm.2	A6NM76	OTTHUMG00000169956	ENST00000328314.3:c.675C>T	12.37:g.55820712C>T							p.I225I	NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN			1	675	+			225						Silent	SNP	ENST00000328314.3	37	c.675C>T	CCDS31823.1																																																																																				0.363	OR6C76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406675.1	NM_001005183		18	108	18	108	---	---	---	---
CFAP54	144535	broad.mit.edu	37	12	97085090	97085090	+	Splice_Site	SNP	T	T	A			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr12:97085090T>A	ENST00000524981.4	+	44	6287		c.e44+2					Q96N23	CL055_HUMAN																			AACCTAATAGTAAGTAATTTG	0.318																																						ENST00000524981.4																			0											c.e44+2		chromosome 12 open reading frame 55							49.0	45.0	46.0					12																	97085090		2203	4300	6503	SO:0001630	splice_region_variant	144535							g.chr12:97085090T>A																												ENST00000524981.4:c.6264+2T>A	12.37:g.97085090T>A														44	6287	+									Splice_Site	SNP	ENST00000524981.4	37			.	.	.	.	.	.	.	.	.	.	T	11.75	1.730928	0.30684	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1381	0.81502	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	C12orf63	95609221	1.000000	0.71417	0.997000	0.53966	0.026000	0.11368	5.299000	0.65716	2.258000	0.74832	0.533000	0.62120	.		0.318	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4		Intron	4	95	4	95	---	---	---	---
CLTC	1213	broad.mit.edu	37	17	57737855	57737855	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr17:57737855C>T	ENST00000269122.3	+	7	1347	c.1073C>T	c.(1072-1074)gCc>gTc	p.A358V	CLTC_ENST00000393043.1_Missense_Mutation_p.A358V|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	358	Globular terminal domain.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)	p.A358V(1)	CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					AATAACTTAGCCGGTGCTGAA	0.433			T	"""ALK, TFE3"""	"""ALCL, renal """																																	ENST00000269122.3				Dom	yes		17	17q11-qter	1213	T	"""clathrin, heavy polypeptide (Hc)"""			L	"""ALK, TFE3"""		"""ALCL, renal """	CLTC/ALK(44)|CLTC/TFE3(2)	1	Substitution - Missense(1)	p.A358V(1)	prostate(1)	breast(2)|large_intestine(6)|ovary(1)	9						c.(1072-1074)gCc>gTc		clathrin, heavy chain (Hc)							184.0	194.0	191.0					17																	57737855		2203	4300	6503	SO:0001583	missense	1213				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	g.chr17:57737855C>T	X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.1073C>T	17.37:g.57737855C>T	ENSP00000269122:p.Ala358Val					CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.A358V	p.A358V	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN			7	1347	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		358			Globular terminal domain.		D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	37	c.1073C>T	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919514	0.73098	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.43688	0.94;0.94	6.08	6.08	0.98989	Armadillo-type fold (1);Clathrin, heavy chain, linker/propeller domain (1);	0.000000	0.85682	D	0.000000	T	0.62245	0.2412	M	0.73598	2.24	0.80722	D	1	B;B	0.30179	0.271;0.045	P;B	0.45913	0.497;0.23	T	0.60954	-0.7160	10	0.87932	D	0	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	358;358	Q00610;Q00610-2	CLH1_HUMAN;.	V	358	ENSP00000269122:A358V;ENSP00000376763:A358V	ENSP00000269122:A358V	A	+	2	0	CLTC	55092637	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.818000	0.86416	2.894000	0.99253	0.591000	0.81541	GCC		0.433	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		6	443	6	443	---	---	---	---
SERPINB5	5268	broad.mit.edu	37	18	61170910	61170910	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr18:61170910C>A	ENST00000382771.4	+	7	1375	c.1083C>A	c.(1081-1083)aaC>aaA	p.N361K		NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	361					cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelium (GO:0002009)|negative regulation of endopeptidase activity (GO:0010951)|prostate gland morphogenesis (GO:0060512)|regulation of epithelial cell proliferation (GO:0050678)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						TCAGGCACAACAAAACTCGAA	0.443																																						ENST00000382771.4																			0				kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						c.(1081-1083)aaC>aaA		serpin peptidase inhibitor, clade B (ovalbumin), member 5							157.0	157.0	157.0					18																	61170910		2203	4300	6503	SO:0001583	missense	5268				cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61170910C>A	U04313	CCDS32839.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206075	ENSG00000206075		"""Serine (or cysteine) peptidase inhibitors"""	8949	protein-coding gene	gene with protein product	"""protease inhibitor 5 (maspin)"""	154790	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 5"""	PI5		8290962, 7724531, 16720730, 24172014	Standard	NM_002639		Approved	maspin	uc002liz.4	P36952	OTTHUMG00000141307	ENST00000382771.4:c.1083C>A	18.37:g.61170910C>A	ENSP00000372221:p.Asn361Lys						p.N361K	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN			7	1375	+			361					B2R6Y4|Q6N0B4|Q8WW89	Missense_Mutation	SNP	ENST00000382771.4	37	c.1083C>A	CCDS32839.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.548530	0.65311	.	.	ENSG00000206075	ENST00000382771	D	0.84370	-1.84	5.64	4.77	0.60923	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.89153	0.6634	L	0.52823	1.66	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87992	0.2750	10	0.41790	T	0.15	.	10.6435	0.45606	0.0:0.8535:0.0:0.1465	.	361	P36952	SPB5_HUMAN	K	361	ENSP00000372221:N361K	ENSP00000372221:N361K	N	+	3	2	SERPINB5	59321890	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.313000	0.43735	1.385000	0.46445	0.655000	0.94253	AAC		0.443	SERPINB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280629.1	NM_002639		14	395	14	395	---	---	---	---
TSPAN16	26526	broad.mit.edu	37	19	11417404	11417404	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr19:11417404A>G	ENST00000316737.1	+	5	725	c.575A>G	c.(574-576)gAt>gGt	p.D192G	TSPAN16_ENST00000590327.1_Missense_Mutation_p.D192G|CTC-510F12.4_ENST00000586356.1_RNA|TSPAN16_ENST00000592955.1_Missense_Mutation_p.D167G	NM_012466.2	NP_036598.1	Q9UKR8	TSN16_HUMAN	tetraspanin 16	192						integral component of membrane (GO:0016021)		p.D192G(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						GACGGACGCGATGTGTCTCCA	0.473																																						ENST00000316737.1																			1	Substitution - Missense(1)	p.D192G(1)	prostate(1)	breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						c.(574-576)gAt>gGt		tetraspanin 16							102.0	85.0	90.0					19																	11417404		2203	4300	6503	SO:0001583	missense	26526					integral to membrane		g.chr19:11417404A>G	BC029908	CCDS12256.1, CCDS62549.1, CCDS62550.1	19p13.2	2013-02-14	2005-03-21	2005-03-21	ENSG00000130167	ENSG00000130167		"""Tetraspanins"""	30725	protein-coding gene	gene with protein product			"""transmembrane 4 superfamily member 16"""	TM4SF16		10500248	Standard	NM_012466		Approved	TM4-B, TM-8	uc002mqv.1	Q9UKR8	OTTHUMG00000180833	ENST00000316737.1:c.575A>G	19.37:g.11417404A>G	ENSP00000319486:p.Asp192Gly					TSPAN16_ENST00000592955.1_Missense_Mutation_p.D167G|TSPAN16_ENST00000590327.1_Missense_Mutation_p.D192G|CTC-510F12.4_ENST00000586356.1_RNA	p.D192G	NM_012466.2	NP_036598.1	Q9UKR8	TSN16_HUMAN			5	725	+			192					K7EN22|K7EPD8|Q8N6J7	Missense_Mutation	SNP	ENST00000316737.1	37	c.575A>G	CCDS12256.1	.	.	.	.	.	.	.	.	.	.	A	5.507	0.278503	0.10403	.	.	ENSG00000130167	ENST00000316737	D	0.87412	-2.25	3.25	1.1	0.20463	Tetraspanin, EC2 domain (1);	.	.	.	.	T	0.71921	0.3397	N	0.17082	0.46	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.54892	-0.8225	9	0.21540	T	0.41	-7.9924	3.271	0.06882	0.6221:0.2453:0.1327:0.0	.	192	Q9UKR8	TSN16_HUMAN	G	192	ENSP00000319486:D192G	ENSP00000319486:D192G	D	+	2	0	TSPAN16	11278404	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.607000	0.24209	0.158000	0.19367	0.459000	0.35465	GAT		0.473	TSPAN16-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453204.1	NM_012466		5	78	5	78	---	---	---	---
CYP2A13	1553	broad.mit.edu	37	19	41596036	41596036	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr19:41596036G>A	ENST00000330436.3	+	3	428	c.428G>A	c.(427-429)cGc>cAc	p.R143H		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	143					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.R143H(1)		breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	GTGGGCAAGCGCGGCATCGAG	0.697																																						ENST00000330436.3																			1	Substitution - Missense(1)	p.R143H(1)	prostate(1)	breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42						c.(427-429)cGc>cAc		cytochrome P450, family 2, subfamily A, polypeptide 13	Clomipramine(DB01242)|Nicotine(DB00184)						30.0	30.0	30.0					19																	41596036		2201	4298	6499	SO:0001583	missense	1553				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	g.chr19:41596036G>A	U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"""Cytochrome P450s"""	2608	protein-coding gene	gene with protein product		608055	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"""			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.428G>A	19.37:g.41596036G>A	ENSP00000332679:p.Arg143His						p.R143H	NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN			3	428	+			143					Q53YR8|Q6R569|Q6R570|Q9H2X2	Missense_Mutation	SNP	ENST00000330436.3	37	c.428G>A	CCDS12571.1	.	.	.	.	.	.	.	.	.	.	.	8.764	0.924222	0.18056	.	.	ENSG00000197838	ENST00000330436	T	0.01414	4.92	3.39	2.34	0.29019	.	0.058520	0.64402	U	0.000006	T	0.02455	0.0075	M	0.84082	2.675	0.22489	N	0.99906	P	0.38978	0.652	B	0.33295	0.161	T	0.34329	-0.9833	10	0.87932	D	0	.	8.1502	0.31137	0.2111:0.0:0.7889:0.0	.	143	Q16696	CP2AD_HUMAN	H	143	ENSP00000332679:R143H	ENSP00000332679:R143H	R	+	2	0	CYP2A13	46287876	0.085000	0.21516	0.976000	0.42696	0.011000	0.07611	0.939000	0.28978	0.735000	0.32537	-1.279000	0.01387	CGC		0.697	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	NM_000766		10	50	10	50	---	---	---	---
MYBPC2	4606	broad.mit.edu	37	19	50939044	50939044	+	Missense_Mutation	SNP	G	G	A	rs374389710		TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr19:50939044G>A	ENST00000357701.5	+	3	172	c.121G>A	c.(121-123)Gag>Aag	p.E41K		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	41					cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.E41K(1)		breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		AGCCCCACCCGAGGACCAGTC	0.627																																						ENST00000357701.5																			1	Substitution - Missense(1)	p.E41K(1)	prostate(1)	breast(1)	1						c.(121-123)Gag>Aag		myosin binding protein C, fast type		G	LYS/GLU	1,3761		0,1,1880	23.0	26.0	25.0		121	4.6	1.0	19		25	1,8207		0,1,4103	no	missense	MYBPC2	NM_004533.3	56	0,2,5983	AA,AG,GG		0.0122,0.0266,0.0167	benign	41/1142	50939044	2,11968	1881	4104	5985	SO:0001583	missense	4606				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	g.chr19:50939044G>A		CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7550	protein-coding gene	gene with protein product	"""fast-type muscle myosin-binding-protein C"""	160793	"""myosin-binding protein C, fast-type"""			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.121G>A	19.37:g.50939044G>A	ENSP00000350332:p.Glu41Lys						p.E41K	NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)	3	172	+		all_neural(266;0.057)	41					A1L4G9	Missense_Mutation	SNP	ENST00000357701.5	37	c.121G>A	CCDS46152.1	.	.	.	.	.	.	.	.	.	.	.	12.27	1.889018	0.33348	2.66E-4	1.22E-4	ENSG00000086967	ENST00000357701	T	0.57436	0.4	4.6	4.6	0.57074	.	.	.	.	.	T	0.37598	0.1009	L	0.52573	1.65	0.31573	N	0.656068	P	0.48230	0.907	B	0.31337	0.128	T	0.45026	-0.9289	9	0.09338	T	0.73	.	13.267	0.60139	0.0:0.0:1.0:0.0	.	41	Q14324	MYPC2_HUMAN	K	41	ENSP00000350332:E41K	ENSP00000350332:E41K	E	+	1	0	MYBPC2	55630856	0.985000	0.35326	0.952000	0.39060	0.053000	0.15095	2.031000	0.41117	2.270000	0.75569	0.467000	0.42956	GAG		0.627	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	NM_004533		8	20	8	20	---	---	---	---
ZNF579	163033	broad.mit.edu	37	19	56090151	56090151	+	Silent	SNP	C	C	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr19:56090151C>T	ENST00000325421.4	-	2	883	c.855G>A	c.(853-855)ctG>ctA	p.L285L	CTD-2537I9.5_ENST00000589396.1_lincRNA	NM_152600.2	NP_689813.2	Q8NAF0	ZN579_HUMAN	zinc finger protein 579	285					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.L285L(1)		endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)		GGTGGCGCGACAGGGACCAGG	0.731																																						ENST00000325421.4																			1	Substitution - coding silent(1)	p.L285L(1)	prostate(1)	endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(853-855)ctG>ctA		zinc finger protein 579							28.0	32.0	31.0					19																	56090151		2201	4298	6499	SO:0001819	synonymous_variant	163033				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56090151C>T	AK092772	CCDS12927.1	19q13.42	2013-09-20			ENSG00000218891	ENSG00000218891		"""Zinc fingers, C2H2-type"""	26646	protein-coding gene	gene with protein product							Standard	NM_152600		Approved	FLJ35453	uc002qlh.3	Q8NAF0	OTTHUMG00000180857	ENST00000325421.4:c.855G>A	19.37:g.56090151C>T							p.L285L	NM_152600.2	NP_689813.2	Q8NAF0	ZN579_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)	2	883	-			285						Silent	SNP	ENST00000325421.4	37	c.855G>A	CCDS12927.1																																																																																				0.731	ZNF579-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453348.1	NM_152600		4	38	4	38	---	---	---	---
PEG3	5178	broad.mit.edu	37	19	57329201	57329201	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr19:57329201G>T	ENST00000326441.9	-	9	1138	c.775C>A	c.(775-777)Cag>Aag	p.Q259K	ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.Q259K|PEG3_ENST00000598410.1_Missense_Mutation_p.Q135K|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.Q133K	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	259					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.Q259K(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCAGCAAGCTGCACTCCTGGT	0.488																																						ENST00000326441.9																			2	Substitution - Missense(2)	p.Q259K(2)	prostate(2)	NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(775-777)Cag>Aag		paternally expressed 3							132.0	95.0	108.0					19																	57329201		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57329201G>T	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.775C>A	19.37:g.57329201G>T	ENSP00000326581:p.Gln259Lys					PEG3_ENST00000598410.1_Missense_Mutation_p.Q135K|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.Q133K|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.Q259K	p.Q259K	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	9	1138	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	259					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.775C>A	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.011862	0.75046	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02763	4.17;4.17	4.28	4.28	0.50868	.	0.182576	0.27027	N	0.021284	T	0.02267	0.0070	L	0.27053	0.805	.	.	.	P;P	0.47034	0.889;0.889	B;B	0.40940	0.258;0.344	T	0.39231	-0.9624	9	0.06365	T	0.9	-33.0983	12.5175	0.56040	0.0:0.0:1.0:0.0	.	135;259	A7E2B8;Q9GZU2	.;PEG3_HUMAN	K	259	ENSP00000326581:Q259K;ENSP00000403051:Q259K	ENSP00000326581:Q259K	Q	-	1	0	ZIM2	62021013	0.988000	0.35896	0.993000	0.49108	0.994000	0.84299	2.589000	0.46145	2.676000	0.91093	0.655000	0.94253	CAG		0.488	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			5	41	5	41	---	---	---	---
RBL1	5933	broad.mit.edu	37	20	35668590	35668590	+	Silent	SNP	C	C	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr20:35668590C>T	ENST00000373664.3	-	14	1935	c.1869G>A	c.(1867-1869)aaG>aaA	p.K623K	RBL1_ENST00000344359.3_Silent_p.K623K	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	623	Pocket; binds T and E1A.|Spacer.				chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)	p.K623K(1)		NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				TTCGAACTTCCTTGACTCTTG	0.418																																						ENST00000373664.3																			1	Substitution - coding silent(1)	p.K623K(1)	prostate(1)	NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42						c.(1867-1869)aaG>aaA		retinoblastoma-like 1 (p107)							152.0	140.0	144.0					20																	35668590		2203	4300	6503	SO:0001819	synonymous_variant	5933				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding	g.chr20:35668590C>T	L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839			9893	protein-coding gene	gene with protein product		116957				1833063	Standard	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.1869G>A	20.37:g.35668590C>T						RBL1_ENST00000344359.3_Silent_p.K623K	p.K623K	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN			14	1935	-		Myeloproliferative disorder(115;0.00878)	623			Pocket; binds T and E1A.|Spacer.		A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Silent	SNP	ENST00000373664.3	37	c.1869G>A	CCDS13289.1																																																																																				0.418	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079067.2	NM_002895		22	222	22	222	---	---	---	---
DSCAM	1826	broad.mit.edu	37	21	41684282	41684282	+	Silent	SNP	C	C	T	rs200014864		TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr21:41684282C>T	ENST00000400454.1	-	9	2265	c.1788G>A	c.(1786-1788)ccG>ccA	p.P596P		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	596	Ig-like C2-type 7.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.P596P(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GTATGAAAGGCGGAACTGCAA	0.448													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17079	0.0		0.0	False		,,,				2504	0.0				Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			2	Substitution - coding silent(2)	p.P596P(2)	large_intestine(1)|prostate(1)	NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(1786-1788)ccG>ccA		Down syndrome cell adhesion molecule		C		1,3731		0,1,1865	32.0	30.0	31.0		1788	-3.8	0.9	21		31	0,8210		0,0,4105	no	coding-synonymous	DSCAM	NM_001389.3		0,1,5970	TT,TC,CC		0.0,0.0268,0.0084		596/2013	41684282	1,11941	1866	4105	5971	SO:0001819	synonymous_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41684282C>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.1788G>A	21.37:g.41684282C>T							p.P596P	NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN			9	2265	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	596			Ig-like C2-type 7.		O60468	Silent	SNP	ENST00000400454.1	37	c.1788G>A	CCDS42929.1																																																																																				0.448	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		5	26	5	26	---	---	---	---
ARHGAP6	395	broad.mit.edu	37	X	11204545	11204545	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chrX:11204545T>C	ENST00000337414.4	-	5	1956	c.1084A>G	c.(1084-1086)Atg>Gtg	p.M362V	ARHGAP6_ENST00000413512.3_Missense_Mutation_p.M171V|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.M159V|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.M394V|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.M187V|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.M159V|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.M362V	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	362					actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)	p.M362V(2)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TCCACTGACATGGCACCCTGC	0.443																																						ENST00000337414.4																			2	Substitution - Missense(2)	p.M362V(2)	prostate(2)	cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(1084-1086)Atg>Gtg		Rho GTPase activating protein 6							102.0	95.0	97.0					X																	11204545		2203	4300	6503	SO:0001583	missense	395				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	g.chrX:11204545T>C	AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"""Rho GTPase activating proteins"""	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.1084A>G	X.37:g.11204545T>C	ENSP00000338967:p.Met362Val					ARHGAP6_ENST00000303025.6_Missense_Mutation_p.M159V|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.M159V|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.M362V|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.M187V|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.M394V|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.M171V	p.M362V	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN			5	1956	-			362					B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Missense_Mutation	SNP	ENST00000337414.4	37	c.1084A>G	CCDS14140.1	.	.	.	.	.	.	.	.	.	.	T	11.37	1.619212	0.28801	.	.	ENSG00000047648	ENST00000534860;ENST00000380736;ENST00000303025;ENST00000337414;ENST00000380717;ENST00000380718;ENST00000413512;ENST00000380732	T;T;T;T;T;T;T;T	0.21734	2.0;2.0;2.0;2.0;1.99;2.01;2.06;2.07	5.51	4.29	0.51040	.	0.000000	0.64402	D	0.000003	T	0.09949	0.0244	N	0.11106	0.095	0.58432	D	0.999994	B;B;B;B;B	0.28605	0.002;0.01;0.054;0.217;0.217	B;B;B;B;B	0.24974	0.001;0.008;0.028;0.057;0.057	T	0.18903	-1.0322	10	0.12430	T	0.62	.	11.0951	0.48139	0.14:0.0:0.0:0.86	.	171;159;362;362;362	B7Z8H7;O43182-5;O43182-2;O43182;A8KAL3	.;.;.;RHG06_HUMAN;.	V	187;159;159;362;198;362;171;394	ENSP00000438135:M187V;ENSP00000370112:M159V;ENSP00000302312:M159V;ENSP00000338967:M362V;ENSP00000370093:M198V;ENSP00000370094:M362V;ENSP00000389394:M171V;ENSP00000370108:M394V	ENSP00000302312:M159V	M	-	1	0	ARHGAP6	11114466	0.999000	0.42202	1.000000	0.80357	0.987000	0.75469	3.055000	0.49916	1.852000	0.53769	0.486000	0.48141	ATG		0.443	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	NM_013427		58	123	58	123	---	---	---	---
AMZ2P1	201283	broad.mit.edu	37	17	62968909	62968909	+	RNA	DEL	T	T	-			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr17:62968909delT	ENST00000430983.1	-	0	1426					NR_026903.1				archaelysin family metallopeptidase 2 pseudogene 1																		TCTCATTGACTCTAAAGGAAC	0.358																																						ENST00000430983.1																			0																																																			201283							g.chr17:62968909delT	AK056627		17q24.1	2012-10-16	2010-04-08		ENSG00000214174	ENSG00000214174			26491	pseudogene	pseudogene							Standard	NR_026903		Approved	FLJ32065	uc002jfb.3		OTTHUMG00000132075		17.37:g.62968909delT								NR_026903.1						0	1426	-									RNA	DEL	ENST00000430983.1	37																																																																																						0.358	AMZ2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000255102.1	NM_153032		11	56	11	56	---	---	---	---
