#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
VPS13D	55187	broad.mit.edu	37	1	12343708	12343708	+	Missense_Mutation	SNP	G	G	A			TCGA-QD-A8IV-01A-11D-A397-08	TCGA-QD-A8IV-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0da85938-d959-4f4f-94a0-33a40bddf048	82853bee-af8e-4007-8556-b953a6163a97	g.chr1:12343708G>A	ENST00000358136.3	+	21	5679	c.5549G>A	c.(5548-5550)gGc>gAc	p.G1850D	VPS13D_ENST00000356315.4_Missense_Mutation_p.G1850D	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CCTCCTGAGGGCATTCTGCAC	0.507																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(5548-5550)gGc>gAc		vacuolar protein sorting 13 homolog D (S. cerevisiae)							107.0	104.0	105.0					1																	12343708		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12343708G>A	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.5549G>A	1.37:g.12343708G>A	ENSP00000350854:p.Gly1850Asp					VPS13D_ENST00000356315.4_Missense_Mutation_p.G1850D	p.G1850D	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	21	5679	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	1850						Missense_Mutation	SNP	ENST00000358136.3	37	c.5549G>A	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.006|0.006	-2.020909|-2.020909	0.00418|0.00418	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	.|T;T	.|0.50277	.|0.75;0.75	5.92|5.92	3.28|3.28	0.37604|0.37604	.|.	.|0.427438	.|0.26532	.|N	.|0.023854	T|T	0.21347|0.21347	0.0514|0.0514	N|N	0.04508|0.04508	-0.205|-0.205	0.80722|0.80722	D|D	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.04013	.|0.001;0.0	T|T	0.04752|0.04752	-1.0929|-1.0929	5|10	.|0.12430	.|T	.|0.62	.|.	8.5355|8.5355	0.33360|0.33360	0.8073:0.0:0.1927:0.0|0.8073:0.0:0.1927:0.0	.|.	.|1850;1850	.|Q5THJ4-2;Q5THJ4	.|.;VP13D_HUMAN	T|D	673|1850	.|ENSP00000348666:G1850D;ENSP00000350854:G1850D	.|ENSP00000348666:G1850D	A|G	+|+	1|2	0|0	VPS13D|VPS13D	12266295|12266295	0.963000|0.963000	0.33076|0.33076	0.467000|0.467000	0.27180|0.27180	0.191000|0.191000	0.23601|0.23601	2.248000|2.248000	0.43160|0.43160	0.368000|0.368000	0.24481|0.24481	-0.367000|-0.367000	0.07326|0.07326	GCA|GGC		0.507	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		4	115	0	0	0	1	0	4	115				
NDUFV2	4729	broad.mit.edu	37	18	9124980	9124980	+	Splice_Site	SNP	A	A	G			TCGA-QD-A8IV-01A-11D-A397-08	TCGA-QD-A8IV-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0da85938-d959-4f4f-94a0-33a40bddf048	82853bee-af8e-4007-8556-b953a6163a97	g.chr18:9124980A>G	ENST00000318388.6	+	6	692	c.578A>G	c.(577-579)tAt>tGt	p.Y193C	RP11-143J12.2_ENST00000582375.1_RNA|NDUFV2_ENST00000400033.1_Splice_Site_p.Y196C|NDUFV2_ENST00000465096.1_3'UTR|RP11-21J18.1_ENST00000579126.1_RNA|RP11-143J12.2_ENST00000583081.1_RNA	NM_021074.4	NP_066552.2	P19404	NDUV2_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	193					cardiac muscle tissue development (GO:0048738)|cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|nervous system development (GO:0007399)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|lung(4)|ovary(1)|stomach(1)	7						GACAATTACTATGTGAGTATT	0.328																																						ENST00000400033.1																			0				breast(1)|lung(4)|ovary(1)|stomach(1)	7						c.e7+1		NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	NADH(DB00157)						56.0	55.0	55.0					18																	9124980		2203	4300	6503	SO:0001630	splice_region_variant	4729				cardiac muscle tissue development|mitochondrial electron transport, NADH to ubiquinone|nervous system development|transport	mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity	g.chr18:9124980A>G	X84421	CCDS11842.1	18p11.22	2011-07-04	2002-08-29		ENSG00000178127	ENSG00000178127	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7717	protein-coding gene	gene with protein product	"""complex I 24kDa subunit"", ""NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial"""	600532	"""NADH dehydrogenase (ubiquinone) flavoprotein 2 (24kD)"""			9763677, 7607668	Standard	NM_021074		Approved	CI-24k	uc002knu.3	P19404	OTTHUMG00000131593	ENST00000318388.6:c.579+1A>G	18.37:g.9124980A>G						RP11-143J12.2_ENST00000582375.1_RNA|NDUFV2_ENST00000318388.6_Splice_Site_p.Y193_splice|NDUFV2_ENST00000465096.1_3'UTR|RP11-21J18.1_ENST00000579126.1_RNA|RP11-143J12.2_ENST00000583081.1_RNA	p.Y196_splice			P19404	NDUV2_HUMAN			7	704	+			193					Q9BV41	Splice_Site	SNP	ENST00000318388.6	37	c.588_splice	CCDS11842.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.238034	0.79800	.	.	ENSG00000178127	ENST00000318388;ENST00000400033	T;T	0.53857	0.6;0.6	5.58	5.58	0.84498	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.77698	0.4169	M	0.89534	3.04	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.83021	-0.0167	10	0.87932	D	0	-14.9673	15.7512	0.77986	1.0:0.0:0.0:0.0	.	193	P19404	NDUV2_HUMAN	C	193;196	ENSP00000327268:Y193C;ENSP00000382908:Y196C	ENSP00000327268:Y193C	Y	+	2	0	NDUFV2	9114980	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.073000	0.93992	2.125000	0.65367	0.377000	0.23210	TAT		0.328	NDUFV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254475.2	NM_021074	Missense_Mutation	15	23	0	0	0	1	0	15	23				
NLRP6	171389	broad.mit.edu	37	11	281038	281038	+	Missense_Mutation	SNP	G	G	C			TCGA-QD-A8IV-01A-11D-A397-08	TCGA-QD-A8IV-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0da85938-d959-4f4f-94a0-33a40bddf048	82853bee-af8e-4007-8556-b953a6163a97	g.chr11:281038G>C	ENST00000312165.5	+	4	1304	c.1304G>C	c.(1303-1305)gGg>gCg	p.G435A	NLRP6_ENST00000534750.1_Missense_Mutation_p.G435A	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	435	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GTAGCCGACGGGCCCCGGTTG	0.667																																						ENST00000534750.1																			0				breast(1)|skin(1)|upper_aerodigestive_tract(2)	4						c.(1303-1305)gGg>gCg		NLR family, pyrin domain containing 6							62.0	70.0	67.0					11																	281038		2202	4291	6493	SO:0001583	missense	171389					cytoplasm	ATP binding	g.chr11:281038G>C	AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"""Nucleotide-binding domain and leucine rich repeat containing"""	22944	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"""	609650	"""NACHT, leucine rich repeat and PYD containing 6"""	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.1304G>C	11.37:g.281038G>C	ENSP00000309767:p.Gly435Ala					NLRP6_ENST00000312165.5_Missense_Mutation_p.G435A	p.G435A	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)	4	1509	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	435			NACHT.		A8K9F3|E9PJZ8	Missense_Mutation	SNP	ENST00000312165.5	37	c.1304G>C	CCDS7693.1	.	.	.	.	.	.	.	.	.	.	G	0.017	-1.496649	0.01001	.	.	ENSG00000174885	ENST00000534750;ENST00000312165	T;T	0.76709	-1.04;-1.02	3.26	-6.12	0.02124	NACHT nucleoside triphosphatase (1);	1.253730	0.06029	N	0.652663	T	0.55673	0.1935	N	0.21508	0.67	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.002;0.003	T	0.45293	-0.9271	10	0.09338	T	0.73	.	5.7728	0.18263	0.1715:0.5651:0.1491:0.1142	.	435;435	E9PJZ8;P59044	.;NALP6_HUMAN	A	435	ENSP00000433617:G435A;ENSP00000309767:G435A	ENSP00000309767:G435A	G	+	2	0	NLRP6	271038	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-0.226000	0.09139	-1.470000	0.01888	-0.384000	0.06662	GGG		0.667	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329		11	147	0	0	0	1	0	11	147				
PRG4	10216	broad.mit.edu	37	1	186276229	186276229	+	Missense_Mutation	SNP	A	A	G	rs200751463		TCGA-QD-A8IV-01A-11D-A397-08	TCGA-QD-A8IV-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0da85938-d959-4f4f-94a0-33a40bddf048	82853bee-af8e-4007-8556-b953a6163a97	g.chr1:186276229A>G	ENST00000445192.2	+	7	1423	c.1378A>G	c.(1378-1380)Aca>Gca	p.T460A	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.T417A|PRG4_ENST00000367483.4_Missense_Mutation_p.T419A|PRG4_ENST00000367485.4_Missense_Mutation_p.T367A	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	460	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.T460A(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CAAGGAGCCTACACCCACCAC	0.657																																						ENST00000445192.2																			1	Substitution - Missense(1)	p.T460A(1)	lung(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1378-1380)Aca>Gca		proteoglycan 4							86.0	95.0	92.0					1																	186276229		2203	4297	6500	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276229A>G	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1378A>G	1.37:g.186276229A>G	ENSP00000399679:p.Thr460Ala					PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.T417A|PRG4_ENST00000367483.4_Missense_Mutation_p.T419A|PRG4_ENST00000367485.4_Missense_Mutation_p.T367A	p.T460A	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1423	+			460			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.1378A>G	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	-	5.758	0.324291	0.10900	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.03689	3.86;3.95;3.84;3.94	3.89	-1.26	0.09376	.	1.548120	0.04848	N	0.441778	T	0.01254	0.0041	N	0.01188	-0.97	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.001	T	0.45760	-0.9239	9	.	.	.	.	1.0401	0.01557	0.3011:0.1615:0.3744:0.163	.	326;367;460;419	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	A	417;326;419;367;460	ENSP00000356456:T417A;ENSP00000356453:T419A;ENSP00000356455:T367A;ENSP00000399679:T460A	.	T	+	1	0	PRG4	184542852	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.973000	0.00666	-0.043000	0.13513	-1.818000	0.00600	ACA		0.657	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		5	129	0	0	0	1	0	5	129				
MT-ND5	4540	broad.mit.edu	37	M	12414	12414	+	Silent	SNP	T	T	C			TCGA-QD-A8IV-01A-11D-A397-08	TCGA-QD-A8IV-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0da85938-d959-4f4f-94a0-33a40bddf048	82853bee-af8e-4007-8556-b953a6163a97	g.chrM:12414T>C	ENST00000361567.2	+	1	78	c.78T>C	c.(76-78)ccT>ccC	p.P26P	MT-TR_ENST00000387439.1_RNA|MT-TE_ENST00000387459.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TG_ENST00000387429.1_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	26					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						CTCGTTAACCCTAACAAAAAA	0.413																																						ENST00000361567.2																			0				breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						c.(76-78)ccT>ccC		mitochondrially encoded NADH dehydrogenase 5	NADH(DB00157)																																			SO:0001819	synonymous_variant	4540				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chrM:12414T>C			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.78T>C	M.37:g.12414T>C							p.P26P			P03915	NU5M_HUMAN			1	78	+			26					Q34773|Q8WCY3	Silent	SNP	ENST00000361567.2	37	c.78T>C																																																																																					0.413	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024036		6	167	0	0	0	1	0	6	167				
AGAP10	728127	broad.mit.edu	37	10	47207813	47207813	+	Splice_Site	SNP	T	T	C	rs202014361	byFrequency	TCGA-QD-A8IV-01A-11D-A397-08	TCGA-QD-A8IV-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0da85938-d959-4f4f-94a0-33a40bddf048	82853bee-af8e-4007-8556-b953a6163a97	g.chr10:47207813T>C	ENST00000452145.2	-	4	506	c.395A>G	c.(394-396)cAt>cGt	p.H132R	AGAP10_ENST00000355232.3_Splice_Site_p.H157R|AGAP10_ENST00000413193.2_Splice_Site_p.H228R|RP11-144G6.12_ENST00000605970.1_RNA			Q5T2P9	AGA10_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 10	132					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.H228R(20)		endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						TTTACTTACATGGTTTGTACA	0.294																																						ENST00000355232.3																			20	Substitution - Missense(20)	p.H228R(20)	endometrium(10)|prostate(4)|kidney(4)|urinary_tract(2)	endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						c.e5+1		ArfGAP with GTPase domain, ankyrin repeat and PH domain 10																																				SO:0001630	splice_region_variant	728127							g.chr10:47207813T>C	BC075841		10q11.22	2013-01-11	2008-09-22	2008-09-22	ENSG00000204172	ENSG00000204172		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23462	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 7"""	CTGLF7			Standard	XM_006709937		Approved	bA144G6.2		Q5T2P9	OTTHUMG00000018115	ENST00000452145.2:c.396+1A>G	10.37:g.47207813T>C						AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice|RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice	p.H157_splice							5	3482	-									Splice_Site	SNP	ENST00000452145.2	37	c.471_splice		.	.	.	.	.	.	.	.	.	.	t	0.012	-1.675265	0.00751	.	.	ENSG00000204172	ENST00000452145;ENST00000413193;ENST00000355232	D;T;D	0.87966	-2.32;2.68;-2.32	1.4	1.4	0.22301	.	0.264128	0.34555	N	0.003879	T	0.72486	0.3466	.	.	.	0.20764	N	0.999856	B	0.22003	0.063	B	0.19666	0.026	T	0.55471	-0.8136	9	0.16896	T	0.51	.	6.9024	0.24291	0.0:0.0:0.0:1.0	.	132	Q5T2P9	AGA10_HUMAN	R	132;228;157	ENSP00000392206:H132R;ENSP00000407436:H228R;ENSP00000347372:H157R	ENSP00000347372:H157R	H	-	2	0	AGAP10	46627819	1.000000	0.71417	1.000000	0.80357	0.105000	0.19272	3.704000	0.54815	0.898000	0.36418	0.163000	0.16589	CAT		0.294	AGAP10-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000047845.2	XM_001714786.2	Missense_Mutation	4	47	0	0	0	1	0	4	47				
POU2F3	25833	broad.mit.edu	37	11	120169019	120169019	+	Missense_Mutation	SNP	C	C	A			TCGA-QD-A8IV-01A-11D-A397-08	TCGA-QD-A8IV-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0da85938-d959-4f4f-94a0-33a40bddf048	82853bee-af8e-4007-8556-b953a6163a97	g.chr11:120169019C>A	ENST00000543440.2	+	4	328	c.178C>A	c.(178-180)Cat>Aat	p.H60N	POU2F3_ENST00000260264.4_Missense_Mutation_p.H62N	NM_014352.3	NP_055167.2	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	60					epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|negative regulation by host of viral transcription (GO:0043922)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		GACCCTCTCCCATCGGCCATG	0.532																																						ENST00000260264.4																			0				large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17						c.(184-186)Cat>Aat		POU class 2 homeobox 3							188.0	181.0	184.0					11																	120169019		2203	4300	6503	SO:0001583	missense	25833				negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding	g.chr11:120169019C>A	AF133895	CCDS8431.1, CCDS58190.1	11q23.3	2011-06-20	2007-07-13		ENSG00000137709	ENSG00000137709		"""Homeoboxes / POU class"""	19864	protein-coding gene	gene with protein product		607394	"""POU domain class 2, transcription factor 3"""			10473598	Standard	NM_014352		Approved	OCT11, PLA-1, Skn-1a, Epoc-1	uc021qrk.1	Q9UKI9	OTTHUMG00000166140	ENST00000543440.2:c.178C>A	11.37:g.120169019C>A	ENSP00000441687:p.His60Asn					POU2F3_ENST00000543440.2_Missense_Mutation_p.H60N	p.H62N	NM_001244682.1	NP_001231611.1	Q9UKI9	PO2F3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)	4	218	+		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)	60					A8K7H8|B4DY07|F5GWW6|Q3MIY3|Q9UKR7|Q9Y504	Missense_Mutation	SNP	ENST00000543440.2	37	c.184C>A	CCDS8431.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.774040	0.49786	.	.	ENSG00000137709	ENST00000543440;ENST00000260264	D;D	0.82344	-1.6;-1.59	4.36	4.36	0.52297	.	0.398395	0.28247	N	0.016060	T	0.73583	0.3605	L	0.38175	1.15	0.40079	D	0.976117	B	0.33073	0.396	B	0.29176	0.099	T	0.71553	-0.4558	10	0.13470	T	0.59	.	16.0569	0.80812	0.0:1.0:0.0:0.0	.	60	Q9UKI9	PO2F3_HUMAN	N	62;60	ENSP00000441687:H62N;ENSP00000260264:H60N	ENSP00000260264:H60N	H	+	1	0	POU2F3	119674229	0.080000	0.21391	0.984000	0.44739	0.997000	0.91878	2.767000	0.47637	2.249000	0.74217	0.563000	0.77884	CAT		0.532	POU2F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388039.2			114	163	1	0	2.91849e-64	1	3.18381e-64	114	163				
CTCFL	140690	broad.mit.edu	37	20	56099163	56099163	+	Silent	SNP	G	G	A			TCGA-QD-A8IV-01A-11D-A397-08	TCGA-QD-A8IV-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0da85938-d959-4f4f-94a0-33a40bddf048	82853bee-af8e-4007-8556-b953a6163a97	g.chr20:56099163G>A	ENST00000608263.1	-	1	760	c.99C>T	c.(97-99)gaC>gaT	p.D33D	CTCFL_ENST00000432255.2_Silent_p.D33D|CTCFL_ENST00000481655.2_Silent_p.D33D|CTCFL_ENST00000429804.3_Silent_p.D33D|CTCFL_ENST00000433949.3_Intron|CTCFL_ENST00000371196.2_Silent_p.D33D|CTCFL_ENST00000608903.1_Intron|CTCFL_ENST00000608440.1_Silent_p.D33D|CTCFL_ENST00000608158.1_Silent_p.D33D|CTCFL_ENST00000608858.1_Intron|CTCFL_ENST00000243914.3_Silent_p.D33D|CTCFL_ENST00000423479.3_Silent_p.D33D|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000422869.2_Silent_p.D33D|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000608425.1_Silent_p.D33D|CTCFL_ENST00000609232.1_Silent_p.D33D	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	33					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			TGCACACTCCGTCTTTTTCCT	0.537																																						ENST00000426658.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(97-99)gaC>gaT		CCCTC-binding factor (zinc finger protein)-like							233.0	256.0	248.0					20																	56099163		2203	4300	6503	SO:0001819	synonymous_variant	140690				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:56099163G>A		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.99C>T	20.37:g.56099163G>A						CTCFL_ENST00000433949.2_Silent_p.D33D|CTCFL_ENST00000429804.2_Silent_p.D33D|CTCFL_ENST00000423479.2_Silent_p.D33D|CTCFL_ENST00000422869.2_Silent_p.D33D|CTCFL_ENST00000371196.2_Silent_p.D33D|CTCFL_ENST00000243914.3_Silent_p.D33D|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000422109.2_Silent_p.D33D|CTCFL_ENST00000432255.2_Silent_p.D33D	p.D33D			Q8NI51	CTCFL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)		1	760	-	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		33					A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Silent	SNP	ENST00000608263.1	37	c.99C>T	CCDS13459.1																																																																																				0.537	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		7	274	0	0	0	1	0	7	274				
RP11-156P1.2	0	broad.mit.edu	37	17	45127107	45127107	+	IGR	SNP	C	C	G	rs374963948		TCGA-QD-A8IV-01A-11D-A397-08	TCGA-QD-A8IV-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0da85938-d959-4f4f-94a0-33a40bddf048	82853bee-af8e-4007-8556-b953a6163a97	g.chr17:45127107C>G	ENST00000571841.1	+	0	889				LRRC37A17P_ENST00000570478.1_RNA|RP11-156P1.3_ENST00000575173.1_RNA																							CCTTCGTTCACCCAAGAGCAT	0.592																																						ENST00000575173.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:45127107C>G																													17.37:g.45127107C>G														0	418	-									RNA	SNP	ENST00000571841.1	37																																																																																						0.592	RP11-156P1.2-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000440447.1			4	78	0	0	0	1	0	4	78				
IL1RAPL2	26280	broad.mit.edu	37	X	104993041	104993041	+	Silent	SNP	C	C	T			TCGA-QD-A8IV-01A-11D-A397-08	TCGA-QD-A8IV-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0da85938-d959-4f4f-94a0-33a40bddf048	82853bee-af8e-4007-8556-b953a6163a97	g.chrX:104993041C>T	ENST00000372582.1	+	9	1893	c.1137C>T	c.(1135-1137)aaC>aaT	p.N379N	IL1RAPL2_ENST00000344799.4_Silent_p.N379N|IL1RAPL2_ENST00000485671.1_3'UTR	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	379					central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AATGCTACAACATTGAATTGA	0.418																																						ENST00000372582.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(1135-1137)aaC>aaT		interleukin 1 receptor accessory protein-like 2							123.0	97.0	106.0					X																	104993041		2203	4300	6503	SO:0001819	synonymous_variant	26280				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	g.chrX:104993041C>T	AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.1137C>T	X.37:g.104993041C>T						IL1RAPL2_ENST00000485671.1_3'UTR|IL1RAPL2_ENST00000344799.4_Silent_p.N379N	p.N379N	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN			9	1893	+			379					Q2M3U3|Q9NZN0	Silent	SNP	ENST00000372582.1	37	c.1137C>T	CCDS14517.1																																																																																				0.418	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416		27	52	0	0	0	1	0	27	52				
CNTN5	53942	broad.mit.edu	37	11	100064362	100064362	+	Silent	SNP	G	G	A			TCGA-QD-A8IV-01A-11D-A397-08	TCGA-QD-A8IV-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0da85938-d959-4f4f-94a0-33a40bddf048	82853bee-af8e-4007-8556-b953a6163a97	g.chr11:100064362G>A	ENST00000524871.1	+	15	2141	c.1851G>A	c.(1849-1851)gaG>gaA	p.E617E	CNTN5_ENST00000528682.1_Silent_p.E617E|CNTN5_ENST00000279463.3_Silent_p.E617E|CNTN5_ENST00000418526.2_Silent_p.E543E|CNTN5_ENST00000527185.1_Silent_p.E617E|CNTN5_ENST00000524560.1_3'UTR	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	617	Ig-like C2-type 6.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TTGATTTCGAGGAAGAGGGTG	0.378																																						ENST00000524871.1																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(1849-1851)gaG>gaA		contactin 5							105.0	99.0	101.0					11																	100064362		1856	4093	5949	SO:0001819	synonymous_variant	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:100064362G>A	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.1851G>A	11.37:g.100064362G>A						CNTN5_ENST00000418526.2_Silent_p.E543E|CNTN5_ENST00000527185.1_Silent_p.E617E|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000279463.3_Silent_p.E617E|CNTN5_ENST00000528682.1_Silent_p.E617E	p.E617E	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	15	2141	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	617			Ig-like C2-type 6.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Silent	SNP	ENST00000524871.1	37	c.1851G>A	CCDS53696.1																																																																																				0.378	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		22	35	0	0	0	1	0	22	35				
HERC2P3	283755	broad.mit.edu	37	15	20657756	20657756	+	RNA	SNP	A	A	G	rs199759895	byFrequency	TCGA-QD-A8IV-01A-11D-A397-08	TCGA-QD-A8IV-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0da85938-d959-4f4f-94a0-33a40bddf048	82853bee-af8e-4007-8556-b953a6163a97	g.chr15:20657756A>G	ENST00000428453.1	-	0	2202							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						ATGGTCCCCAAGCTCGGTCCC	0.557													.|||	91	0.0181709	0.0514	0.0173	5008	,	,		19109	0.003		0.004	False		,,,				2504	0.0041					ENST00000428453.1																			0				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35															110.0	97.0	101.0					15																	20657756		2101	4197	6298			0							g.chr15:20657756A>G	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20657756A>G														0	2202	-									RNA	SNP	ENST00000428453.1	37																																																																																						0.557	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		4	70	0	0	0	1	0	4	70				
TBC1D3P2	440452	broad.mit.edu	37	17	60342186	60342186	+	RNA	SNP	T	T	C			TCGA-QD-A8IV-01A-11D-A397-08	TCGA-QD-A8IV-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0da85938-d959-4f4f-94a0-33a40bddf048	82853bee-af8e-4007-8556-b953a6163a97	g.chr17:60342186T>C	ENST00000581291.1	-	0	1967									TBC1 domain family, member 3 pseudogene 2											breast(2)|kidney(1)|lung(2)	5						GCTGGGGGTGTTGGGAGGGGC	0.498																																						ENST00000581291.1																			0				breast(2)|kidney(1)|lung(2)	5																																														0							g.chr17:60342186T>C			17q23.2	2009-05-14				ENSG00000188755			27783	pseudogene	pseudogene							Standard	NR_027486		Approved		uc002izq.2				17.37:g.60342186T>C														0	1967	-									RNA	SNP	ENST00000581291.1	37																																																																																						0.498	TBC1D3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445021.1	NR_027486		4	23	0	0	0	1	0	4	23				
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290	byFrequency	TCGA-QD-A8IV-01A-11D-A397-08	TCGA-QD-A8IV-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0da85938-d959-4f4f-94a0-33a40bddf048	82853bee-af8e-4007-8556-b953a6163a97	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												ENST00000369535.4	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"""L, E"""			"""melanoma, MM, AML, thyroid"""		1016	Substitution - Missense(1016)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		neuroblastoma RAS viral (v-ras) oncogene homolog							180.0	156.0	164.0					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Q61R	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	435	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		69	80	0	0	0	1	0	69	80				
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	A	G			TCGA-QD-A8IV-01A-11D-A397-08	TCGA-QD-A8IV-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0da85938-d959-4f4f-94a0-33a40bddf048	82853bee-af8e-4007-8556-b953a6163a97	g.chr17:39183145A>G	ENST00000361883.5	-	1	309	c.263T>C	c.(262-264)aTc>aCc	p.I88T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	88	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament (GO:0045095)		p.I88T(11)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGAGCTGATCTGGCAGCA	0.632																																						ENST00000361883.5																			11	Substitution - Missense(11)	p.I88T(11)	lung(7)|kidney(1)|prostate(1)|endometrium(1)|central_nervous_system(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17						c.(262-264)aTc>aCc		keratin associated protein 1-5							26.0	30.0	28.0					17																	39183145		2054	4217	6271	SO:0001583	missense	83895					keratin filament		g.chr17:39183145A>G	AJ406928	CCDS42321.1	17q21.2	2013-06-25			ENSG00000221852	ENSG00000221852		"""Keratin associated proteins"""	16777	protein-coding gene	gene with protein product		608822				11279113	Standard	NM_031957		Approved	KAP1.5	uc002hvu.3	Q9BYS1	OTTHUMG00000133587	ENST00000361883.5:c.263T>C	17.37:g.39183145A>G	ENSP00000355302:p.Ile88Thr						p.I88T	NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	309	-		Breast(137;0.00043)	88			15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].		A6NJW6|A6NLZ6|B6ZDR1|Q52LP6	Missense_Mutation	SNP	ENST00000361883.5	37	c.263T>C	CCDS42321.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-2.877501	0.00061	.	.	ENSG00000221852	ENST00000361883;ENST00000543389	T	0.25579	1.79	2.87	0.645	0.17782	.	.	.	.	.	T	0.03178	0.0093	N	0.00055	-2.375	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38650	-0.9651	9	0.05721	T	0.95	.	2.2484	0.04037	0.117:0.3609:0.3383:0.1838	.	88	Q9BYS1	KRA15_HUMAN	T	88;78	ENSP00000355302:I88T	ENSP00000355302:I88T	I	-	2	0	KRTAP1-5	36436671	0.730000	0.28100	0.005000	0.12908	0.023000	0.10783	0.636000	0.24644	-0.052000	0.13311	-0.215000	0.12644	ATC		0.632	KRTAP1-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257691.1			6	64	0	0	0	1	0	6	64				
ACTL9	284382	broad.mit.edu	37	19	8808059	8808059	+	Silent	SNP	G	G	A			TCGA-QD-A8IV-01A-11D-A397-08	TCGA-QD-A8IV-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0da85938-d959-4f4f-94a0-33a40bddf048	82853bee-af8e-4007-8556-b953a6163a97	g.chr19:8808059G>A	ENST00000324436.3	-	1	1113	c.993C>T	c.(991-993)cgC>cgT	p.R331R		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	331						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CCAAGTCCGCGCGCATCTCCA	0.667																																						ENST00000324436.3																			0				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						c.(991-993)cgC>cgT		actin-like 9							37.0	37.0	37.0					19																	8808059		2202	4297	6499	SO:0001819	synonymous_variant	284382					cytoplasm|cytoskeleton		g.chr19:8808059G>A		CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.993C>T	19.37:g.8808059G>A							p.R331R	NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN			1	1113	-			331					A8K893|Q6X960	Silent	SNP	ENST00000324436.3	37	c.993C>T	CCDS12207.1																																																																																				0.667	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1	NM_178525		39	45	0	0	0	1	0	39	45				
ALPK2	115701	broad.mit.edu	37	18	56203904	56203904	+	Missense_Mutation	SNP	G	G	A	rs140868694	byFrequency	TCGA-QD-A8IV-01A-11D-A397-08	TCGA-QD-A8IV-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0da85938-d959-4f4f-94a0-33a40bddf048	82853bee-af8e-4007-8556-b953a6163a97	g.chr18:56203904G>A	ENST00000361673.3	-	5	3728	c.3515C>T	c.(3514-3516)aCg>aTg	p.T1172M	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1172						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TGAGTGGGCCGTGGGCACCAA	0.577																																						ENST00000361673.3																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(3514-3516)aCg>aTg		alpha-kinase 2		G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	90.0	80.0	83.0		3515	-4.1	0.0	18	dbSNP_134	83	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ALPK2	NM_052947.3	81	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	benign	1172/2171	56203904	3,13003	2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56203904G>A	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.3515C>T	18.37:g.56203904G>A	ENSP00000354991:p.Thr1172Met					RP11-1151B14.4_ENST00000591360.1_RNA	p.T1172M	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN			5	3728	-			1172					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.3515C>T	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	G	10.22	1.289156	0.23478	2.27E-4	2.33E-4	ENSG00000198796	ENST00000361673	T	0.41400	1.0	5.51	-4.1	0.03940	.	1.598930	0.03370	N	0.198820	T	0.22513	0.0543	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.04013	0.0;0.001	T	0.26849	-1.0091	10	0.66056	D	0.02	4.6211	6.2896	0.21053	0.4693:0.0:0.407:0.1237	.	1167;1172	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	M	1172	ENSP00000354991:T1172M	ENSP00000354991:T1172M	T	-	2	0	ALPK2	54354884	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.472000	0.06623	-1.088000	0.03077	-1.187000	0.01702	ACG		0.577	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		4	110	0	0	0	1	0	4	110				
GABRE	2564	broad.mit.edu	37	X	151138673	151138673	+	Silent	SNP	C	C	A	rs76574542		TCGA-QD-A8IV-01A-11D-A397-08	TCGA-QD-A8IV-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0da85938-d959-4f4f-94a0-33a40bddf048	82853bee-af8e-4007-8556-b953a6163a97	g.chrX:151138673C>A	ENST00000370328.3	-	2	311	c.258G>T	c.(256-258)ctG>ctT	p.L86L	GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370325.1_Silent_p.L86L	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	86					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TGCCAGGGCGCAGTTTGTGGT	0.532																																						ENST00000370325.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27						c.(256-258)ctG>ctT		gamma-aminobutyric acid (GABA) A receptor, epsilon							153.0	137.0	142.0					X																	151138673		2203	4300	6503	SO:0001819	synonymous_variant	2564				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chrX:151138673C>A	Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4085	protein-coding gene	gene with protein product	"""GABA(A) receptor, epsilon"""	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.258G>T	X.37:g.151138673C>A						GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370328.3_Silent_p.L86L	p.L86L			P78334	GBRE_HUMAN			2	311	-	Acute lymphoblastic leukemia(192;6.56e-05)		86					E7ET93|O15345|O15346|Q6PCD2|Q99520	Silent	SNP	ENST00000370328.3	37	c.258G>T	CCDS14703.1																																																																																				0.532	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984		44	82	1	0	1.02687e-29	1	1.08727e-29	44	82				
RPS12	6206	broad.mit.edu	37	6	133138134	133138134	+	Silent	SNP	C	C	G			TCGA-QD-A8IV-01A-11D-A397-08	TCGA-QD-A8IV-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0da85938-d959-4f4f-94a0-33a40bddf048	82853bee-af8e-4007-8556-b953a6163a97	g.chr6:133138134C>G	ENST00000230050.3	+	5	480	c.270C>G	c.(268-270)ggC>ggG	p.G90G	SNORA33_ENST00000363664.1_RNA|SNORD100_ENST00000408573.1_RNA|SNORD101_ENST00000384027.1_RNA	NM_001016.3	NP_001007.2	P25398	RS12_HUMAN	ribosomal protein S12	90					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(13)|lung(3)|urinary_tract(1)	18	Breast(56;0.214)			OV - Ovarian serous cystadenocarcinoma(155;0.00284)|GBM - Glioblastoma multiforme(226;0.0256)		AATGGGTAGGCCTTTGTAAAA	0.358																																						ENST00000230050.3																			0				endometrium(1)|kidney(13)|lung(3)|urinary_tract(1)	18						c.(268-270)ggC>ggG		ribosomal protein S12							69.0	67.0	67.0					6																	133138134		2203	4300	6503	SO:0001819	synonymous_variant	6206				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	structural constituent of ribosome	g.chr6:133138134C>G	X53505	CCDS5164.1	6q23	2011-04-05			ENSG00000112306	ENSG00000112306		"""S ribosomal proteins"""	10385	protein-coding gene	gene with protein product		603660				1861993, 9582194	Standard	NM_001016		Approved	S12	uc003qdx.3	P25398	OTTHUMG00000015593	ENST00000230050.3:c.270C>G	6.37:g.133138134C>G							p.G90G	NM_001016.3	NP_001007.2	P25398	RS12_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00284)|GBM - Glioblastoma multiforme(226;0.0256)	5	480	+	Breast(56;0.214)		90					Q76M58	Silent	SNP	ENST00000230050.3	37	c.270C>G	CCDS5164.1																																																																																				0.358	RPS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042270.2	NM_001016		6	68	0	0	0	1	0	6	68				
SIPA1L2	57568	broad.mit.edu	37	1	232649623	232649623	+	Missense_Mutation	SNP	C	C	T	rs569418675		TCGA-QD-A8IV-01A-11D-A397-08	TCGA-QD-A8IV-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0da85938-d959-4f4f-94a0-33a40bddf048	82853bee-af8e-4007-8556-b953a6163a97	g.chr1:232649623C>T	ENST00000366630.1	-	2	1821	c.1463G>A	c.(1462-1464)cGc>cAc	p.R488H	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.R488H			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	488					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GAAGAATTTGCGGTAATAATA	0.453													C|||	1	0.000199681	0.0	0.0	5008	,	,		20567	0.0		0.0	False		,,,				2504	0.001					ENST00000366630.1																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(1462-1464)cGc>cAc		signal-induced proliferation-associated 1 like 2							159.0	149.0	152.0					1																	232649623		1902	4119	6021	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232649623C>T	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.1463G>A	1.37:g.232649623C>T	ENSP00000355589:p.Arg488His					SIPA1L2_ENST00000262861.4_Missense_Mutation_p.R488H	p.R488H			Q9P2F8	SI1L2_HUMAN			2	1821	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	488					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.1463G>A	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.165195	0.38217	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	D;D	0.87412	-2.25;-2.25	5.39	5.39	0.77823	.	0.127474	0.53938	D	0.000060	D	0.83843	0.5342	L	0.48877	1.53	0.45239	D	0.998245	B	0.33807	0.426	B	0.28232	0.087	T	0.83134	-0.0112	10	0.49607	T	0.09	-30.6894	19.3561	0.94414	0.0:1.0:0.0:0.0	.	488	Q9P2F8	SI1L2_HUMAN	H	488	ENSP00000355589:R488H;ENSP00000262861:R488H	ENSP00000262861:R488H	R	-	2	0	SIPA1L2	230716246	1.000000	0.71417	0.994000	0.49952	0.962000	0.63368	3.554000	0.53720	2.810000	0.96702	0.650000	0.86243	CGC		0.453	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		4	146	0	0	0	1	0	4	146				
ARHGEF17	9828	broad.mit.edu	37	11	73071517	73071517	+	Silent	SNP	C	C	T			TCGA-QD-A8IV-01A-11D-A397-08	TCGA-QD-A8IV-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0da85938-d959-4f4f-94a0-33a40bddf048	82853bee-af8e-4007-8556-b953a6163a97	g.chr11:73071517C>T	ENST00000263674.3	+	11	4709	c.4359C>T	c.(4357-4359)ttC>ttT	p.F1453F		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1453					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TTTTTGAGTTCCCTCACCCTG	0.607																																						ENST00000263674.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						c.(4357-4359)ttC>ttT		Rho guanine nucleotide exchange factor (GEF) 17							109.0	121.0	117.0					11																	73071517		2200	4293	6493	SO:0001819	synonymous_variant	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73071517C>T	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.4359C>T	11.37:g.73071517C>T							p.F1453F	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN			11	4709	+			1453					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Silent	SNP	ENST00000263674.3	37	c.4359C>T	CCDS8221.1																																																																																				0.607	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		59	83	0	0	0	1	0	59	83				
ANKRD36BP2	645784	broad.mit.edu	37	2	89084114	89084114	+	RNA	SNP	G	G	A			TCGA-QD-A8IV-01A-11D-A397-08	TCGA-QD-A8IV-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0da85938-d959-4f4f-94a0-33a40bddf048	82853bee-af8e-4007-8556-b953a6163a97	g.chr2:89084114G>A	ENST00000393525.3	+	0	576									ankyrin repeat domain 36B pseudogene 2																		TTGCTTTTCAGTGTCTTCTCA	0.313																																						ENST00000393525.3																			0																																																			0							g.chr2:89084114G>A			2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89084114G>A														0	576	+									RNA	SNP	ENST00000393525.3	37																																																																																						0.313	ANKRD36BP2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000323523.1			4	82	0	0	0	1	0	4	82				
CYLD	1540	broad.mit.edu	37	16	50828308	50828308	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QD-A8IV-01A-11D-A397-08	TCGA-QD-A8IV-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0da85938-d959-4f4f-94a0-33a40bddf048	82853bee-af8e-4007-8556-b953a6163a97	g.chr16:50828308G>A	ENST00000427738.3	+	17	2860	c.2655G>A	c.(2653-2655)tgG>tgA	p.W885*	CYLD_ENST00000566206.1_Nonsense_Mutation_p.W882*|CYLD_ENST00000569418.1_Nonsense_Mutation_p.W882*|CYLD_ENST00000311559.9_Nonsense_Mutation_p.W885*|CYLD_ENST00000540145.1_Nonsense_Mutation_p.W885*|CYLD_ENST00000568704.2_Nonsense_Mutation_p.W700*|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000398568.2_Nonsense_Mutation_p.W882*|CYLD_ENST00000564326.1_Nonsense_Mutation_p.W882*|RP11-327F22.4_ENST00000564510.1_RNA			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	885	USP.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				ATTCTGCCTGGCTCTTCTTTG	0.483			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																													ENST00000540145.1			yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	"""Mis, N, F, S"""	familial cylindromatosis gene			E		cylindroma	cylindroma		0				central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62						c.(2653-2655)tgG>tgA		cylindromatosis (turban tumor syndrome)							192.0	189.0	190.0					16																	50828308		1984	4169	6153	SO:0001587	stop_gained	1540	Multiple Trichoepithelioma, Familial;Familial Cylindromatosis	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr16:50828308G>A	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"""ubiquitin specific peptidase like 2"""	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.2655G>A	16.37:g.50828308G>A	ENSP00000392025:p.Trp885*					CYLD_ENST00000311559.9_Nonsense_Mutation_p.W885*|CYLD_ENST00000564326.1_Nonsense_Mutation_p.W882*|CYLD_ENST00000566206.1_Nonsense_Mutation_p.W882*|CYLD_ENST00000427738.3_Nonsense_Mutation_p.W885*|CYLD_ENST00000398568.2_Nonsense_Mutation_p.W882*|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000569418.1_Nonsense_Mutation_p.W882*|CYLD_ENST00000568704.2_Nonsense_Mutation_p.W700*|RP11-327F22.4_ENST00000564510.1_RNA	p.W885*			Q9NQC7	CYLD_HUMAN			18	3070	+		all_cancers(37;0.0156)	885					O94934|Q7L3N6|Q96EH0|Q9NZX9	Nonsense_Mutation	SNP	ENST00000427738.3	37	c.2655G>A	CCDS45482.1	.	.	.	.	.	.	.	.	.	.	G	41	8.886082	0.98990	.	.	ENSG00000083799	ENST00000540145;ENST00000311559;ENST00000427738;ENST00000398568	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.8125	20.1615	0.98135	0.0:0.0:1.0:0.0	.	.	.	.	X	885;885;882;882	.	ENSP00000308928:W885X	W	+	3	0	CYLD	49385809	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.361000	0.97122	2.835000	0.97688	0.650000	0.86243	TGG		0.483	CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2			65	109	0	0	0	1	0	65	109				
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	A	G	rs41559716	byFrequency	TCGA-QD-A8IV-01A-11D-A397-08	TCGA-QD-A8IV-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0da85938-d959-4f4f-94a0-33a40bddf048	82853bee-af8e-4007-8556-b953a6163a97	g.chr6:29910693A>G	ENST00000396634.1	+	4	574	c.233A>G	c.(232-234)cAg>cGg	p.Q78R	HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	78	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.Q78R(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGGATAGAGCAGGAGGGGCCG	0.657									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												ENST00000396634.1																			2	Substitution - Missense(2)	p.Q78R(2)	lung(1)|endometrium(1)	central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						c.(232-234)cAg>cGg		major histocompatibility complex, class I, A							54.0	57.0	56.0					6																	29910693		2203	4299	6502	SO:0001583	missense	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29910693A>G	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.233A>G	6.37:g.29910693A>G	ENSP00000379873:p.Gln78Arg	Multiple Myeloma(9;0.094)				HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R	p.Q78R			P30443	1A01_HUMAN			4	574	+			78			Alpha-1.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	c.233A>G	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	9.798	1.179669	0.21787	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	T;T;T;T	0.00784	5.7;5.7;5.7;5.7	3.72	-4.39	0.03611	MHC class I, alpha chain, alpha1/alpha2 (3);MHC classes I/II-like antigen recognition protein (3);MHC class I-like antigen recognition (3);	1.398580	0.06189	N	0.681068	T	0.00815	0.0027	L	0.56280	1.765	0.09310	N	1	B;P;B;P;B	0.42483	0.0;0.781;0.0;0.781;0.0	B;D;B;D;B	0.71184	0.006;0.972;0.01;0.972;0.01	T	0.44952	-0.9294	10	0.87932	D	0	.	0.9552	0.01384	0.3504:0.1689:0.3159:0.1647	rs41559716	78;78;78;78;78	P13746;Q5SRN7;P16188;Q5SRN5;P04439	1A11_HUMAN;.;1A30_HUMAN;.;1A03_HUMAN	R	78	ENSP00000379873:Q78R;ENSP00000366002:Q78R;ENSP00000366005:Q78R;ENSP00000365998:Q78R	ENSP00000348012:Q78R	Q	+	2	0	HLA-A	30018672	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-0.990000	0.03732	-0.910000	0.03847	-0.450000	0.05554	CAG		0.657	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		6	31	0	0	0	1	0	6	31				
KMT2C	58508	broad.mit.edu	37	7	151932951	151932951	+	Missense_Mutation	SNP	C	C	T			TCGA-QD-A8IV-01A-11D-A397-08	TCGA-QD-A8IV-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0da85938-d959-4f4f-94a0-33a40bddf048	82853bee-af8e-4007-8556-b953a6163a97	g.chr7:151932951C>T	ENST00000262189.6	-	16	2938	c.2720G>A	c.(2719-2721)cGa>cAa	p.R907Q	KMT2C_ENST00000355193.2_Missense_Mutation_p.R907Q	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	907					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TGACCTGCCTCGGCCACCTCG	0.488																																						ENST00000355193.2																			0											c.(2719-2721)cGa>cAa		lysine (K)-specific methyltransferase 2C							53.0	50.0	51.0					7																	151932951		2202	4295	6497	SO:0001583	missense	58508							g.chr7:151932951C>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2720G>A	7.37:g.151932951C>T	ENSP00000262189:p.Arg907Gln					KMT2C_ENST00000262189.6_Missense_Mutation_p.R907Q	p.R907Q							16	2938	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.2720G>A	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.713344	0.89112	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.87966	-2.3;-2.32	5.0	5.0	0.66597	AT hook, DNA-binding motif (1);	0.000000	0.49305	D	0.000155	D	0.91758	0.7393	M	0.63843	1.955	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	D	0.90017	0.4125	10	0.29301	T	0.29	.	16.8371	0.85959	0.0:1.0:0.0:0.0	.	907	Q8NEZ4	MLL3_HUMAN	Q	907	ENSP00000262189:R907Q;ENSP00000347325:R907Q	ENSP00000262189:R907Q	R	-	2	0	MLL3	151563884	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.268000	0.78473	2.482000	0.83794	0.585000	0.79938	CGA		0.488	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			5	108	0	0	0	1	0	5	108				
SLCO1B3	28234	broad.mit.edu	37	12	21014004	21014004	+	Missense_Mutation	SNP	G	G	T	rs369529563		TCGA-QD-A8IV-01A-11D-A397-08	TCGA-QD-A8IV-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0da85938-d959-4f4f-94a0-33a40bddf048	82853bee-af8e-4007-8556-b953a6163a97	g.chr12:21014004G>T	ENST00000381545.3	+	6	632	c.413G>T	c.(412-414)aGt>aTt	p.S138I	LST3_ENST00000540229.1_Missense_Mutation_p.S138I|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.S138I|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.S138I|LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	138					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	TCAACATCAAGTTTATCAACC	0.284																																						ENST00000381545.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63						c.(412-414)aGt>aTt		solute carrier organic anion transporter family, member 1B3		G	ILE/SER	0,4394		0,0,2197	54.0	53.0	53.0		413	-2.0	0.0	12		53	3,8565	3.0+/-9.4	0,3,4281	no	missense	SLCO1B3	NM_019844.2	142	0,3,6478	TT,TG,GG		0.035,0.0,0.0231	possibly-damaging	138/703	21014004	3,12959	2197	4284	6481	SO:0001583	missense	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21014004G>T		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.413G>T	12.37:g.21014004G>T	ENSP00000370956:p.Ser138Ile					SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.S138I|LST3_ENST00000540229.1_Missense_Mutation_p.S138I|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.S138I|LST3_ENST00000381541.3_Intron	p.S138I	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN			6	632	+	Esophageal squamous(101;0.149)		138					E7EMT8|Q5JAR4	Missense_Mutation	SNP	ENST00000381545.3	37	c.413G>T	CCDS8684.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.479297	0.26511	0.0	3.5E-4	ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000257046	ENST00000540853;ENST00000261196;ENST00000381545;ENST00000553473;ENST00000540229	T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06	2.88	-2.0	0.07433	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.990483	0.08229	N	0.977823	T	0.41096	0.1144	M	0.75085	2.285	0.09310	N	1	B;B	0.27498	0.008;0.18	B;B	0.31337	0.02;0.128	T	0.48917	-0.8992	10	0.59425	D	0.04	.	5.2515	0.15524	0.2379:0.3389:0.4232:0.0	.	138;138	Q5JAR4;Q9NPD5	.;SO1B3_HUMAN	I	138	ENSP00000442000:S138I;ENSP00000261196:S138I;ENSP00000370956:S138I;ENSP00000451758:S138I;ENSP00000441269:S138I	ENSP00000441269:S138I	S	+	2	0	SLCO1B3;RP11-545J16.1	20905271	0.428000	0.25522	0.011000	0.14972	0.601000	0.36947	0.090000	0.15025	-0.277000	0.09193	-0.354000	0.07668	AGT		0.284	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		4	112	1	0	0.00024832	1	0.00024832	4	112				
FRG1B	284802	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	G	C	rs200164543		TCGA-QD-A8IV-01A-11D-A397-08	TCGA-QD-A8IV-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0da85938-d959-4f4f-94a0-33a40bddf048	82853bee-af8e-4007-8556-b953a6163a97	g.chr20:29628283G>C	ENST00000278882.3	+	6	665	c.285G>C	c.(283-285)ggG>ggC	p.G95G	FRG1B_ENST00000439954.2_Silent_p.G100G|FRG1B_ENST00000358464.4_Silent_p.G95G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	95								p.G95G(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378																																						ENST00000278882.3																			4	Substitution - coding silent(4)	p.G95G(4)	urinary_tract(2)|kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(283-285)ggG>ggC																																						SO:0001819	synonymous_variant	0							g.chr20:29628283G>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.285G>C	20.37:g.29628283G>C						FRG1B_ENST00000439954.2_Silent_p.G100G|FRG1B_ENST00000358464.4_Silent_p.G95G	p.G95G							6	665	+								C4AME5	Silent	SNP	ENST00000278882.3	37	c.285G>C																																																																																					0.378	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	103	0	0	0	1	0	5	103				
MMACHC	25974	broad.mit.edu	37	1	45974755	45974755	+	Silent	SNP	C	C	G			TCGA-QD-A8IV-01A-11D-A397-08	TCGA-QD-A8IV-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0da85938-d959-4f4f-94a0-33a40bddf048	82853bee-af8e-4007-8556-b953a6163a97	g.chr1:45974755C>G	ENST00000401061.4	+	4	997	c.717C>G	c.(715-717)ccC>ccG	p.P239P		NM_015506.2	NP_056321.2	Q9Y4U1	MMAC_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria	239					cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8	Acute lymphoblastic leukemia(166;0.155)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGGCTCAGCCCTCAGAGAAGC	0.622																																						ENST00000401061.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8						c.(715-717)ccC>ccG		methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						93.0	104.0	100.0					1																	45974755		1954	4139	6093	SO:0001819	synonymous_variant	25974						cobalamin binding	g.chr1:45974755C>G		CCDS41324.1	1p34.1	2011-05-12			ENSG00000132763	ENSG00000132763			24525	protein-coding gene	gene with protein product		609831				16311595	Standard	NM_015506		Approved	DKFZP564I122, cblC	uc009vxv.3	Q9Y4U1	OTTHUMG00000007742	ENST00000401061.4:c.717C>G	1.37:g.45974755C>G							p.P239P	NM_015506.2	NP_056321.2	Q9Y4U1	MMAC_HUMAN			4	997	+	Acute lymphoblastic leukemia(166;0.155)		239					Q5T157|Q9BRQ7	Silent	SNP	ENST00000401061.4	37	c.717C>G	CCDS41324.1																																																																																				0.622	MMACHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020864.2	NM_015506		6	113	0	0	0	1	0	6	113				
COG3	83548	broad.mit.edu	37	13	46066331	46066331	+	Missense_Mutation	SNP	A	A	T			TCGA-QD-A8IV-01A-11D-A397-08	TCGA-QD-A8IV-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0da85938-d959-4f4f-94a0-33a40bddf048	82853bee-af8e-4007-8556-b953a6163a97	g.chr13:46066331A>T	ENST00000349995.5	+	11	1245	c.1133A>T	c.(1132-1134)cAg>cTg	p.Q378L	COG3_ENST00000465942.1_3'UTR	NM_031431.3	NP_113619	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	378					ER to Golgi vesicle-mediated transport (GO:0006888)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		CATGTCTGCCAGGATGAACAC	0.373																																					Ovarian(150;1048 1859 18083 21577 42700)	ENST00000349995.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24						c.(1132-1134)cAg>cTg		component of oligomeric golgi complex 3							195.0	157.0	170.0					13																	46066331		2203	4300	6503	SO:0001583	missense	83548				ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity	g.chr13:46066331A>T	AF131829	CCDS9398.1	13q14.11	2008-02-05			ENSG00000136152	ENSG00000136152		"""Components of oligomeric golgi complex"""	18619	protein-coding gene	gene with protein product		606975				11980916	Standard	NM_031431		Approved	SEC34	uc001vak.3	Q96JB2	OTTHUMG00000016855	ENST00000349995.5:c.1133A>T	13.37:g.46066331A>T	ENSP00000258654:p.Gln378Leu					COG3_ENST00000465942.1_3'UTR	p.Q378L	NM_031431.3	NP_113619.2	Q96JB2	COG3_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)	11	1245	+		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	378					B2RAW5|Q5VT70|Q8IXX4|Q9BZ92	Missense_Mutation	SNP	ENST00000349995.5	37	c.1133A>T	CCDS9398.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.738954	0.89573	.	.	ENSG00000136152	ENST00000349995	T	0.46063	0.88	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.46288	0.1385	L	0.42529	1.33	0.80722	D	1	P;D;P	0.57257	0.673;0.979;0.539	B;P;B	0.52554	0.218;0.702;0.208	T	0.24835	-1.0149	10	0.18276	T	0.48	-12.2902	15.4486	0.75253	1.0:0.0:0.0:0.0	.	215;378;378	B4E2F3;Q96JB2;Q96JB2-2	.;COG3_HUMAN;.	L	378	ENSP00000258654:Q378L	ENSP00000258654:Q378L	Q	+	2	0	COG3	44964332	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.100000	0.94213	2.242000	0.73789	0.533000	0.62120	CAG		0.373	COG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044777.2			21	27	0	0	0	1	0	21	27				
MRPL28	10573	broad.mit.edu	37	16	417713	417713	+	Nonsense_Mutation	SNP	C	C	A			TCGA-QD-A8IV-01A-11D-A397-08	TCGA-QD-A8IV-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0da85938-d959-4f4f-94a0-33a40bddf048	82853bee-af8e-4007-8556-b953a6163a97	g.chr16:417713C>A	ENST00000199706.8	-	6	768	c.733G>T	c.(733-735)Gag>Tag	p.E245*	MRPL28_ENST00000389675.2_Nonsense_Mutation_p.E245*|MRPL28_ENST00000429738.1_Intron	NM_006428.4	NP_006419.2	Q13084	RM28_HUMAN	mitochondrial ribosomal protein L28	245					translation (GO:0006412)	cytoplasm (GO:0005737)|mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)	5		Hepatocellular(16;0.000105)|Lung NSC(18;0.0324)|all_lung(18;0.064)				ACCGCCGGCTCTGACAGTGCC	0.617																																						ENST00000199706.8																			0				breast(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)	5						c.(733-735)Gag>Tag		mitochondrial ribosomal protein L28							52.0	49.0	50.0					16																	417713		2203	4300	6503	SO:0001587	stop_gained	10573				translation	mitochondrial ribosome	protein binding|structural constituent of ribosome	g.chr16:417713C>A	U19796	CCDS32349.1	16p13.12	2012-09-26	2002-11-13		ENSG00000086504	ENSG00000086504		"""Mitochondrial ribosomal proteins / large subunits"""	14484	protein-coding gene	gene with protein product		604853	"""melanoma-associated antigen recognised by cytotoxic T lymphocytes"""	MAAT1		11551941, 19753307	Standard	NM_006428		Approved	p15	uc002cgs.2	Q13084	OTTHUMG00000047994	ENST00000199706.8:c.733G>T	16.37:g.417713C>A	ENSP00000199706:p.Glu245*					MRPL28_ENST00000389675.2_Nonsense_Mutation_p.E245*|MRPL28_ENST00000429738.1_Intron	p.E245*	NM_006428.4	NP_006419.2	Q13084	RM28_HUMAN			6	768	-		Hepatocellular(16;0.000105)|Lung NSC(18;0.0324)|all_lung(18;0.064)	245					B2RCM4|D3DU46|Q4TT39|Q96S26|Q9BQD8|Q9BR04	Nonsense_Mutation	SNP	ENST00000199706.8	37	c.733G>T	CCDS32349.1	.	.	.	.	.	.	.	.	.	.	C	8.604	0.887565	0.17540	.	.	ENSG00000086504	ENST00000397735;ENST00000199706;ENST00000397734;ENST00000389675	.	.	.	4.8	-0.175	0.13315	.	0.286567	0.37012	N	0.002300	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-25.0837	7.946	0.29987	0.0:0.5654:0.2644:0.1702	.	.	.	.	X	245	.	ENSP00000199706:E245X	E	-	1	0	MRPL28	357714	0.970000	0.33590	0.009000	0.14445	0.003000	0.03518	2.261000	0.43276	0.085000	0.17107	0.637000	0.83480	GAG		0.617	MRPL28-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139285.2			23	35	1	0	1.2476e-16	1	1.28324e-16	23	35				
FRG1B	284802	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	G	A			TCGA-QD-A8IV-01A-11D-A397-08	TCGA-QD-A8IV-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0da85938-d959-4f4f-94a0-33a40bddf048	82853bee-af8e-4007-8556-b953a6163a97	g.chr20:29628300G>A	ENST00000278882.3	+	6	682	c.302G>A	c.(301-303)aGt>aAt	p.S101N	FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	101								p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.S101N(2)	prostate(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(301-303)aGt>aAt																																						SO:0001583	missense	0							g.chr20:29628300G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.302G>A	20.37:g.29628300G>A	ENSP00000278882:p.Ser101Asn					FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N	p.S101N							6	682	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.302G>A		.	.	.	.	.	.	.	.	.	.	g	10.56	1.384968	0.25031	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.125588	0.64402	N	0.000001	T	0.33265	0.0857	.	.	.	0.40357	D	0.979199	B;B	0.16802	0.003;0.019	B;B	0.16289	0.007;0.015	T	0.20605	-1.0270	9	0.33940	T	0.23	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	106;101	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	N	101;106;101	ENSP00000408863:S106N	ENSP00000278882:S101N	S	+	2	0	FRG1B	28241961	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.004000	0.40854	1.475000	0.48197	0.423000	0.28283	AGT		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	88	0	0	0	1	0	5	88				
ERBB3	2065	broad.mit.edu	37	12	56481627	56481627	+	Missense_Mutation	SNP	C	C	T			TCGA-QD-A8IV-01A-11D-A397-08	TCGA-QD-A8IV-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0da85938-d959-4f4f-94a0-33a40bddf048	82853bee-af8e-4007-8556-b953a6163a97	g.chr12:56481627C>T	ENST00000267101.3	+	6	1102	c.662C>T	c.(661-663)cCc>cTc	p.P221L	ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.P162L	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	221					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TGCTTTGGGCCCAACCCCAAC	0.542																																						ENST00000267101.3																			0				central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8						c.(661-663)cCc>cTc		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3							129.0	117.0	121.0					12																	56481627		2203	4300	6503	SO:0001583	missense	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56481627C>T	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.662C>T	12.37:g.56481627C>T	ENSP00000267101:p.Pro221Leu					ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.P162L	p.P221L	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		6	1102	+			221					A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.662C>T	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.668957	0.88348	.	.	ENSG00000065361	ENST00000267101;ENST00000394099;ENST00000415288	T;T	0.78595	-1.18;-1.19	5.69	5.69	0.88448	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.313387	0.28109	N	0.016567	D	0.84229	0.5426	M	0.85197	2.74	0.80722	D	1	D	0.53745	0.962	P	0.50231	0.635	D	0.86398	0.1740	10	0.62326	D	0.03	.	13.5415	0.61676	0.156:0.844:0.0:0.0	.	221	P21860	ERBB3_HUMAN	L	221;221;162	ENSP00000267101:P221L;ENSP00000408340:P162L	ENSP00000267101:P221L	P	+	2	0	ERBB3	54767894	0.030000	0.19436	1.000000	0.80357	0.996000	0.88848	0.703000	0.25646	2.685000	0.91497	0.655000	0.94253	CCC		0.542	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			6	93	0	0	0	1	0	6	93				
MAML3	55534	broad.mit.edu	37	4	140811123	140811123	+	Silent	SNP	T	T	C	rs62344939		TCGA-QD-A8IV-01A-11D-A397-08	TCGA-QD-A8IV-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0da85938-d959-4f4f-94a0-33a40bddf048	82853bee-af8e-4007-8556-b953a6163a97	g.chr4:140811123T>C	ENST00000509479.2	-	2	2323	c.1467A>G	c.(1465-1467)caA>caG	p.Q489Q	MAML3_ENST00000327122.5_Silent_p.Q333Q|MAML3_ENST00000398940.1_Silent_p.Q28Q	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgttgctgttgct	0.547																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1465-1467)caA>caG		mastermind-like 3 (Drosophila)							17.0	20.0	19.0					4																	140811123		2193	4294	6487	SO:0001819	synonymous_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811123T>C	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1467A>G	4.37:g.140811123T>C						MAML3_ENST00000398940.1_Silent_p.Q28Q|MAML3_ENST00000327122.5_Silent_p.Q333Q	p.Q489Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2323	-	all_hematologic(180;0.162)		489			Gln-rich.			Silent	SNP	ENST00000509479.2	37	c.1467A>G	CCDS54805.1																																																																																				0.547	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			4	29	0	0	0	1	0	4	29				
LOC101927209	101927209	broad.mit.edu	37	1	142716575	142716578	+	lincRNA	DEL	AAAC	AAAC	-			TCGA-QD-A8IV-01A-11D-A397-08	TCGA-QD-A8IV-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0da85938-d959-4f4f-94a0-33a40bddf048	82853bee-af8e-4007-8556-b953a6163a97	g.chr1:142716575_142716578delAAAC	ENST00000610091.1	-	0	418																											catctcagaaaaacaaacaaacaa	0.422																																						ENST00000595144.1																			0																																																			0							g.chr1:142716575_142716578delAAAC																													1.37:g.142716583_142716586delAAAC														0	418	-									RNA	DEL	ENST00000610091.1	37																																																																																						0.422	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			8	201						8	201	---	---	---	---
OVOS2	144203	broad.mit.edu	37	12	31269805	31269806	+	RNA	INS	-	-	AAG	rs67001718|rs10650892|rs59759240	byFrequency	TCGA-QD-A8IV-01A-11D-A397-08	TCGA-QD-A8IV-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0da85938-d959-4f4f-94a0-33a40bddf048	82853bee-af8e-4007-8556-b953a6163a97	g.chr12:31269805_31269806insAAG	ENST00000542490.1	-	0	52																				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41						CAATATTCCTCAAACTTCTCTT	0.307														3185	0.635982	0.7133	0.6095	5008	,	,		11539	0.8284		0.4274	False		,,,				2504	0.5665					ENST00000542490.1																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41																																														0							g.chr12:31269805_31269806insAAG																													12.37:g.31269805_31269806insAAG														0	52	-									RNA	INS	ENST00000542490.1	37																																																																																						0.307	RP11-551L14.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400342.1			3	4						3	4	---	---	---	---
UPF3AP2	147150	broad.mit.edu	37	17	20279655	20279655	+	RNA	DEL	T	T	-	rs200407551|rs530996042	byFrequency	TCGA-QD-A8IV-01A-11D-A397-08	TCGA-QD-A8IV-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0da85938-d959-4f4f-94a0-33a40bddf048	82853bee-af8e-4007-8556-b953a6163a97	g.chr17:20279655delT	ENST00000578315.1	-	0	51									UPF3A pseudogene 2																		tctgtctctcttttttttttt	0.383														1002	0.20008	0.264	0.1715	5008	,	,		16984	0.1964		0.175	False		,,,				2504	0.1636					ENST00000578315.1																			0																																																			0							g.chr17:20279655delT			17p11.2	2013-09-13	2013-09-13			ENSG00000214832			30567	pseudogene	pseudogene			"""UPF3 regulator of nonsense transcripts homolog A (yeast) pseudogene 2"""			11997339	Standard	NG_001546		Approved						17.37:g.20279655delT														0	51	-									RNA	DEL	ENST00000578315.1	37																																																																																						0.383	UPF3AP2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000443627.1	NG_001546		4	3						4	3	---	---	---	---
PALM	5064	broad.mit.edu	37	19	746801	746801	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QD-A8IV-01A-11D-A397-08	TCGA-QD-A8IV-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0da85938-d959-4f4f-94a0-33a40bddf048	82853bee-af8e-4007-8556-b953a6163a97	g.chr19:746801delG	ENST00000338448.5	+	9	1197	c.1151delG	c.(1150-1152)tgcfs	p.C384fs	PALM_ENST00000264560.7_Frame_Shift_Del_p.C340fs|PALM_ENST00000593172.1_3'UTR	NM_002579.2	NP_002570.2	O75781	PALM_HUMAN	paralemmin	384					cellular component movement (GO:0006928)|cellular response to electrical stimulus (GO:0071257)|cytoskeleton organization (GO:0007010)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of filopodium assembly (GO:0051491)|protein targeting to plasma membrane (GO:0072661)|regulation of cell shape (GO:0008360)|synapse maturation (GO:0060074)	apicolateral plasma membrane (GO:0016327)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cytoplasmic membrane-bounded vesicle (GO:0016023)|dendrite membrane (GO:0032590)|dendritic spine membrane (GO:0032591)|filopodium membrane (GO:0031527)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)		TGTAAATGCTGCTCCATCATG	0.706																																						ENST00000264560.7																			0				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(1018-1020)tcfs		paralemmin							10.0	12.0	11.0					19																	746801		2121	4203	6324	SO:0001589	frameshift_variant	5064				cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane		g.chr19:746801delG	Y16270	CCDS32857.1, CCDS32858.1	19p13.3	2008-07-17				ENSG00000099864			8594	protein-coding gene	gene with protein product		608134				9615234, 9813098	Standard	XM_005259565		Approved	KIAA0270	uc002lpm.1	O75781		ENST00000338448.5:c.1151delG	19.37:g.746801delG	ENSP00000341911:p.Cys384fs					PALM_ENST00000338448.5_Frame_Shift_Del_p.C384fs|PALM_ENST00000606643.1_3'UTR	p.C340fs	NM_001040134.1	NP_001035224.1	O75781	PALM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)	8	1213	+		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	384					O43359|O95673|Q92559|Q9UPJ4|Q9UQS2|Q9UQS3	Frame_Shift_Del	DEL	ENST00000338448.5	37	c.1019delG	CCDS32857.1																																																																																				0.706	PALM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457592.1	NM_002579		2	4						2	4	---	---	---	---
