#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
SORCS1	114815	broad.mit.edu	37	10	108367021	108367021	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr10:108367021G>A	ENST00000263054.6	-	23	3075	c.3068C>T	c.(3067-3069)gCg>gTg	p.A1023V	SORCS1_ENST00000369698.1_Missense_Mutation_p.A558V|SORCS1_ENST00000478809.2_5'UTR|SORCS1_ENST00000344440.6_Missense_Mutation_p.A1023V	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1023					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		AGGGAGCACCGCCACCAGGAT	0.552																																						ENST00000263054.6																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127						c.(3067-3069)gCg>gTg		sortilin-related VPS10 domain containing receptor 1							66.0	63.0	64.0					10																	108367021		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108367021G>A	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.3068C>T	10.37:g.108367021G>A	ENSP00000263054:p.Ala1023Val					SORCS1_ENST00000344440.6_Missense_Mutation_p.A1023V|SORCS1_ENST00000369698.1_Missense_Mutation_p.A558V|SORCS1_ENST00000478809.2_5'UTR	p.A1023V	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	23	3075	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	1023					A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.3068C>T	CCDS7559.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.37|13.37	2.217666|2.217666	0.39201|0.39201	.|.	.|.	ENSG00000108018|ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440|ENST00000452214	T;T;T|.	0.20881|.	2.04;2.57;2.59|.	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	0.059080|.	0.64402|.	D|.	0.000002|.	T|T	0.65450|0.65450	0.2692|0.2692	L|L	0.35249|0.35249	1.045|1.045	0.58432|0.58432	D|D	0.999998|0.999998	B;P;P;B;P|.	0.37038|.	0.443;0.579;0.579;0.443;0.579|.	B;B;B;B;B|.	0.31290|.	0.06;0.127;0.127;0.06;0.127|.	T|T	0.58487|0.58487	-0.7628|-0.7628	9|5	.|.	.|.	.|.	-22.0366|-22.0366	19.9164|19.9164	0.97064|0.97064	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1023;1023;1023;1023;1023|.	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2|.	.;.;.;SORC1_HUMAN;.|.	V|W	558;1023;1023|38	ENSP00000358712:A558V;ENSP00000263054:A1023V;ENSP00000345964:A1023V|.	.|.	A|R	-|-	2|1	0|2	SORCS1|SORCS1	108357011|108357011	1.000000|1.000000	0.71417|0.71417	0.968000|0.968000	0.41197|0.41197	0.742000|0.742000	0.42306|0.42306	8.452000|8.452000	0.90346|0.90346	2.804000|2.804000	0.96469|0.96469	0.655000|0.655000	0.94253|0.94253	GCG|CGG		0.552	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		8	20	0	0	0	1	0	8	20				
ESPNP	284729	broad.mit.edu	37	1	17023403	17023403	+	RNA	SNP	G	G	A	rs10907267	byFrequency	TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr1:17023403G>A	ENST00000492551.1	-	0	1544					NR_026567.1				espin pseudogene																		GGAACATCACGTTGAAAGACT	0.622													g|||	1575	0.314497	0.1225	0.3573	5008	,	,		39681	0.4563		0.332	False		,,,				2504	0.3793					ENST00000492551.1																			0																																																			0							g.chr1:17023403G>A	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17023403G>A								NR_026567.1						0	1544	-									RNA	SNP	ENST00000492551.1	37																																																																																						0.622	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			7	56	0	0	0	1	0	7	56				
CD5L	922	broad.mit.edu	37	1	157805768	157805768	+	Nonsense_Mutation	SNP	A	A	T			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr1:157805768A>T	ENST00000368174.4	-	3	329	c.233T>A	c.(232-234)tTg>tAg	p.L78*	CD5L_ENST00000484609.1_5'UTR	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	78	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TGGCTCATACAAAATACCACT	0.527																																						ENST00000368174.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52						c.(232-234)tTg>tAg		CD5 molecule-like							199.0	207.0	204.0					1																	157805768		2203	4300	6503	SO:0001587	stop_gained	922				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	g.chr1:157805768A>T	U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"""apoptosis inhibitor 6"", ""CD5 antigen-like (scavenger receptor cysteine rich family)"""	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.233T>A	1.37:g.157805768A>T	ENSP00000357156:p.Leu78*					CD5L_ENST00000484609.1_5'UTR	p.L78*	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		3	329	-	all_hematologic(112;0.0378)		78			SRCR 1.		A8K7M5|Q6UX63	Nonsense_Mutation	SNP	ENST00000368174.4	37	c.233T>A	CCDS1171.1	.	.	.	.	.	.	.	.	.	.	A	11.60	1.687226	0.29962	.	.	ENSG00000073754	ENST00000368174	.	.	.	4.85	-5.11	0.02901	.	2.589170	0.01599	N	0.021924	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	5.3127	0.15839	0.2624:0.0:0.4538:0.2839	.	.	.	.	X	78	.	ENSP00000357156:L78X	L	-	2	0	CD5L	156072392	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.894000	0.04123	-1.318000	0.02289	-0.371000	0.07208	TTG		0.527	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894		18	141	0	0	0	1	0	18	141				
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50.0	48.0	49.0					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"""High-mobility group / Canonical"""	5004	protein-coding gene	gene with protein product	"""non-histone chromosomal protein"""	300193	"""high-mobility group (nonhistone chromosomal) protein 4"", ""high-mobility group box 3"""	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		3	50	0	0	0	1	0	3	50				
RGS7BP	401190	broad.mit.edu	37	5	63890653	63890653	+	Nonsense_Mutation	SNP	C	C	T			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr5:63890653C>T	ENST00000334025.2	+	4	906	c.580C>T	c.(580-582)Cag>Tag	p.Q194*		NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	Q6MZT1	R7BP_HUMAN	regulator of G-protein signaling 7 binding protein	194					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of signal transduction (GO:0009968)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		ACATTCCTGGCAGGTTTCCAC	0.483																																						ENST00000334025.2																			0				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11						c.(580-582)Cag>Tag		regulator of G-protein signaling 7 binding protein							91.0	88.0	89.0					5																	63890653		2203	4300	6503	SO:0001587	stop_gained	401190				negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane		g.chr5:63890653C>T	BX640900	CCDS34170.1	5q12.3	2008-02-05	2007-08-14		ENSG00000186479	ENSG00000186479			23271	protein-coding gene	gene with protein product		610890	"""regulator of G-protein signalling 7 binding protein"""			15632198	Standard	NM_001271890		Approved	R7BP	uc003jtj.4	Q6MZT1	OTTHUMG00000162293	ENST00000334025.2:c.580C>T	5.37:g.63890653C>T	ENSP00000334851:p.Gln194*						p.Q194*	NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	Q6MZT1	R7BP_HUMAN		Lung(70;0.147)	4	906	+		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)	194					B7Z3X1	Nonsense_Mutation	SNP	ENST00000334025.2	37	c.580C>T	CCDS34170.1	.	.	.	.	.	.	.	.	.	.	C	39	7.766549	0.98477	.	.	ENSG00000186479	ENST00000334025	.	.	.	5.87	5.87	0.94306	.	0.114307	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-9.1819	19.3531	0.94398	0.0:1.0:0.0:0.0	.	.	.	.	X	194	.	ENSP00000334851:Q194X	Q	+	1	0	RGS7BP	63926409	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.427000	0.59888	2.941000	0.99782	0.655000	0.94253	CAG		0.483	RGS7BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368464.1	NM_001029875		13	33	0	0	0	1	0	13	33				
NXPE4	54827	broad.mit.edu	37	11	114450889	114450889	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr11:114450889C>A	ENST00000375478.3	-	5	1244	c.1064G>T	c.(1063-1065)cGc>cTc	p.R355L	NXPE4_ENST00000424261.2_Missense_Mutation_p.R71L	NM_001077639.1	NP_001071107.1	Q6UWF7	NXPE4_HUMAN	neurexophilin and PC-esterase domain family, member 4	355						extracellular vesicular exosome (GO:0070062)											CATCCACTGGCGGATCGTGGA	0.418																																						ENST00000375478.3																			0											c.(1063-1065)cGc>cTc		neurexophilin and PC-esterase domain family, member 4							195.0	186.0	189.0					11																	114450889		1857	4112	5969	SO:0001583	missense	54827							g.chr11:114450889C>A	AK000134	CCDS41718.1, CCDS44737.1	11q23.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000137634	ENSG00000137634			23117	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 33"", ""family with sequence similarity 55, member D"""	C11orf33, FAM55D		20056006	Standard	NM_017678		Approved	FLJ20127	uc001ppc.3	Q6UWF7	OTTHUMG00000168291	ENST00000375478.3:c.1064G>T	11.37:g.114450889C>A	ENSP00000364627:p.Arg355Leu					NXPE4_ENST00000424261.2_Missense_Mutation_p.R71L	p.R355L	NM_001077639.1	NP_001071107.1					5	1244	-								Q6QDB4|Q9NXP5	Missense_Mutation	SNP	ENST00000375478.3	37	c.1064G>T	CCDS41718.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.055255	0.75960	.	.	ENSG00000137634	ENST00000424261;ENST00000375478	T;T	0.56275	0.47;1.68	5.11	4.19	0.49359	.	0.205226	0.34002	N	0.004343	T	0.63450	0.2512	M	0.85630	2.765	0.40543	D	0.981044	P	0.49447	0.924	P	0.49528	0.614	T	0.71069	-0.4699	10	0.66056	D	0.02	.	10.9604	0.47383	0.0:0.9083:0.0:0.0917	.	355	Q6UWF7	FA55D_HUMAN	L	71;355	ENSP00000401503:R71L;ENSP00000364627:R355L	ENSP00000364627:R355L	R	-	2	0	FAM55D	113956099	0.878000	0.30173	0.981000	0.43875	0.765000	0.43378	2.102000	0.41796	2.534000	0.85438	0.655000	0.94253	CGC		0.418	NXPE4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399179.1	NM_017678		36	94	1	0	7.04047e-22	1	7.4805e-22	36	94				
CXCR1	3577	broad.mit.edu	37	2	219029019	219029019	+	Missense_Mutation	SNP	C	C	A	rs201583693		TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr2:219029019C>A	ENST00000295683.2	-	2	1036	c.916G>T	c.(916-918)Gcc>Tcc	p.A306S		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	306			A -> T. {ECO:0000269|PubMed:11196695}.		cell surface receptor signaling pathway (GO:0007166)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|receptor internalization (GO:0031623)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13					Ketoprofen(DB01009)	CCGATGAAGGCGTAGATGATG	0.547																																						ENST00000295683.2																			0				endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						c.(916-918)Gcc>Tcc		chemokine (C-X-C motif) receptor 1							94.0	93.0	93.0					2																	219029019		2203	4300	6503	SO:0001583	missense	3577				dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity	g.chr2:219029019C>A	U11870	CCDS2409.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000163464	ENSG00000163464		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"", ""Interleukins and interleukin receptors"""	6026	protein-coding gene	gene with protein product		146929	"""interleukin 8 receptor, alpha"""	CMKAR1, IL8RA		1303245, 1427896	Standard	NM_000634		Approved	CKR-1, CDw128a, CD181	uc002vhc.3	P25024	OTTHUMG00000133108	ENST00000295683.2:c.916G>T	2.37:g.219029019C>A	ENSP00000295683:p.Ala306Ser						p.A306S	NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN			2	1036	-			306		A -> T.			B2R6Q3|Q2YEF8|Q2YEG4|Q2YEG5|Q2YEG7|Q2YEG8|Q53R18|Q6IN95|Q8N6T6|Q9P2T8|Q9P2T9|Q9P2U0|Q9P2U1|Q9P2U2	Missense_Mutation	SNP	ENST00000295683.2	37	c.916G>T	CCDS2409.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.646092	0.87958	.	.	ENSG00000163464	ENST00000295683;ENST00000421691	T	0.37411	1.2	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.60728	0.2291	M	0.75777	2.31	0.58432	D	0.999999	D	0.71674	0.998	D	0.71414	0.973	T	0.65598	-0.6129	10	0.72032	D	0.01	.	17.1782	0.86846	0.0:1.0:0.0:0.0	.	306	P25024	CXCR1_HUMAN	S	306;250	ENSP00000295683:A306S	ENSP00000295683:A306S	A	-	1	0	CXCR1	218737264	1.000000	0.71417	0.996000	0.52242	0.895000	0.52256	7.648000	0.83479	2.406000	0.81754	0.561000	0.74099	GCC		0.547	CXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256773.2	NM_000634		3	59	1	0	0.004672	1	0.00476544	3	59				
OR51A7	119687	broad.mit.edu	37	11	4928816	4928816	+	Silent	SNP	C	C	T			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr11:4928816C>T	ENST00000359350.4	+	1	217	c.217C>T	c.(217-219)Ctg>Ttg	p.L73L	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	73						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGACATGGGCCTGTCCCTCTC	0.468																																						ENST00000359350.4																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(217-219)Ctg>Ttg		olfactory receptor, family 51, subfamily A, member 7							165.0	143.0	151.0					11																	4928816		2201	4298	6499	SO:0001819	synonymous_variant	119687				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4928816C>T	AB065525	CCDS31364.1	11p15.4	2012-08-09			ENSG00000176895	ENSG00000176895		"""GPCR / Class A : Olfactory receptors"""	15188	protein-coding gene	gene with protein product							Standard	NM_001004749		Approved		uc010qyq.2	Q8NH64	OTTHUMG00000066502	ENST00000359350.4:c.217C>T	11.37:g.4928816C>T						MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	p.L73L	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	217	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	73					Q6IFH8	Silent	SNP	ENST00000359350.4	37	c.217C>T	CCDS31364.1																																																																																				0.468	OR51A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142175.1	NM_001004749		30	58	0	0	0	1	0	30	58				
SYNE1	23345	broad.mit.edu	37	6	152615148	152615148	+	Missense_Mutation	SNP	C	C	T	rs113962905		TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr6:152615148C>T	ENST00000367255.5	-	94	18398	c.17797G>A	c.(17797-17799)Gct>Act	p.A5933T	SYNE1_ENST00000448038.1_Missense_Mutation_p.A5862T|SYNE1_ENST00000341594.5_Missense_Mutation_p.A5545T|SYNE1_ENST00000265368.4_Missense_Mutation_p.A5933T|SYNE1_ENST00000356820.4_Missense_Mutation_p.A457T|SYNE1_ENST00000423061.1_Missense_Mutation_p.A5862T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5933					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTGGCAGTAGCGGATGGCTCC	0.502										HNSCC(10;0.0054)			C|||	1	0.000199681	0.0008	0.0	5008	,	,		15680	0.0		0.0	False		,,,				2504	0.0					ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(17797-17799)Gct>Act		spectrin repeat containing, nuclear envelope 1		C	THR/ALA,THR/ALA	0,4406		0,0,2203	98.0	92.0	94.0		17584,17797	2.6	0.7	6	dbSNP_132	94	9,8591	7.1+/-27.0	0,9,4291	yes	missense,missense	SYNE1	NM_033071.3,NM_182961.3	58,58	0,9,6494	TT,TC,CC		0.1047,0.0,0.0692	benign,benign	5862/8750,5933/8798	152615148	9,12997	2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152615148C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.17797G>A	6.37:g.152615148C>T	ENSP00000356224:p.Ala5933Thr	HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Missense_Mutation_p.A5862T|SYNE1_ENST00000423061.1_Missense_Mutation_p.A5862T|SYNE1_ENST00000341594.5_Missense_Mutation_p.A5545T|SYNE1_ENST00000265368.4_Missense_Mutation_p.A5933T|SYNE1_ENST00000356820.4_Missense_Mutation_p.A457T	p.A5933T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	94	18398	-		Ovarian(120;0.0955)	5933					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.17797G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	11.46	1.644603	0.29246	0.0	0.001047	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000540663;ENST00000537033	T;T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37;1.37;1.37	4.49	2.58	0.30949	.	0.139342	0.31922	N	0.006843	T	0.10723	0.0262	L	0.35723	1.085	0.35495	D	0.799305	B;B;B;B	0.16396	0.006;0.01;0.01;0.017	B;B;B;B	0.15052	0.003;0.005;0.005;0.012	T	0.09185	-1.0686	10	0.15952	T	0.53	.	9.5183	0.39120	0.0:0.748:0.0:0.252	.	348;5933;5933;5862	B7ZBD0;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	T	5933;5862;5933;5862;5545;457;108;155	ENSP00000356224:A5933T;ENSP00000396024:A5862T;ENSP00000265368:A5933T;ENSP00000390975:A5862T;ENSP00000341887:A5545T;ENSP00000349276:A457T;ENSP00000437411:A108T	ENSP00000265368:A5933T	A	-	1	0	SYNE1	152656841	0.929000	0.31497	0.657000	0.29651	0.891000	0.51852	1.088000	0.30877	0.939000	0.37446	0.655000	0.94253	GCT		0.502	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		23	63	0	0	0	1	0	23	63				
OR2A2	442361	broad.mit.edu	37	7	143807097	143807097	+	Missense_Mutation	SNP	C	C	T	rs187987538	byFrequency	TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr7:143807097C>T	ENST00000408979.2	+	1	491	c.422C>T	c.(421-423)aCg>aTg	p.T141M		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	141						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					AGAGTGTGCACGATCCTGGTT	0.522													.|||	2	0.000399361	0.0	0.0	5008	,	,		20161	0.0		0.002	False		,,,				2504	0.0					ENST00000408979.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22						c.(421-423)aCg>aTg		olfactory receptor, family 2, subfamily A, member 2		C	MET/THR	1,4183		0,1,2091	143.0	134.0	137.0		422	-5.4	0.0	7		137	0,8492		0,0,4246	no	missense	OR2A2	NM_001005480.2	81	0,1,6337	TT,TC,CC		0.0,0.0239,0.0079	benign	141/319	143807097	1,12675	2092	4246	6338	SO:0001583	missense	442361				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143807097C>T		CCDS43671.1	7q35	2013-09-20		2004-03-10	ENSG00000221989	ENSG00000221989		"""GPCR / Class A : Olfactory receptors"""	8230	protein-coding gene	gene with protein product				OR2A2P, OR2A17P			Standard	NM_001005480		Approved	OST008	uc011ktz.2	Q6IF42	OTTHUMG00000158001	ENST00000408979.2:c.422C>T	7.37:g.143807097C>T	ENSP00000386209:p.Thr141Met						p.T141M	NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN			1	491	+	Melanoma(164;0.0783)		141					B2RN85|Q8NGT6	Missense_Mutation	SNP	ENST00000408979.2	37	c.422C>T	CCDS43671.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	0.492	-0.874850	0.02550	2.39E-4	0.0	ENSG00000221989	ENST00000408979	T	0.37411	1.2	3.61	-5.45	0.02616	GPCR, rhodopsin-like superfamily (1);	2.342790	0.03063	N	0.156175	T	0.21145	0.0509	N	0.20610	0.595	0.09310	N	1	B	0.33379	0.41	B	0.32533	0.147	T	0.12372	-1.0550	10	0.36615	T	0.2	4.3335	5.9787	0.19395	0.1276:0.3509:0.0:0.5215	.	141	Q6IF42	OR2A2_HUMAN	M	141	ENSP00000386209:T141M	ENSP00000386209:T141M	T	+	2	0	OR2A2	143438030	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-3.114000	0.00598	-1.583000	0.01638	-1.820000	0.00599	ACG		0.522	OR2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349978.1			15	65	0	0	0	1	0	15	65				
SYNE1	23345	broad.mit.edu	37	6	152751250	152751250	+	Missense_Mutation	SNP	A	A	T			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr6:152751250A>T	ENST00000367255.5	-	36	5386	c.4785T>A	c.(4783-4785)caT>caA	p.H1595Q	SYNE1_ENST00000448038.1_Missense_Mutation_p.H1602Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.H1665Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.H1595Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.H1602Q|SYNE1_ENST00000367253.4_Missense_Mutation_p.H1595Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1595					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCTTACCATATGTTCTTGAA	0.289										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(4783-4785)caT>caA		spectrin repeat containing, nuclear envelope 1							47.0	45.0	46.0					6																	152751250		2200	4289	6489	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152751250A>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.4785T>A	6.37:g.152751250A>T	ENSP00000356224:p.His1595Gln	HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Missense_Mutation_p.H1602Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.H1602Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.H1665Q|SYNE1_ENST00000367253.4_Missense_Mutation_p.H1595Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.H1595Q	p.H1595Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	36	5386	-		Ovarian(120;0.0955)	1595					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.4785T>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	A	12.66	2.004944	0.35415	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253	T;T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3;0.3	5.97	0.906	0.19314	.	0.189058	0.37530	N	0.002051	T	0.50718	0.1632	M	0.61703	1.905	0.80722	D	1	D;D;D;D;D	0.69078	0.991;0.995;0.986;0.995;0.997	P;P;P;P;D	0.66602	0.559;0.883;0.744;0.883;0.945	T	0.50065	-0.8871	10	0.27082	T	0.32	.	5.527	0.16962	0.5073:0.1439:0.3487:0.0	.	1578;1595;1595;1595;1602	B3W695;Q8NF91;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	Q	1595;1602;1595;1602;1665;1595	ENSP00000356224:H1595Q;ENSP00000396024:H1602Q;ENSP00000265368:H1595Q;ENSP00000390975:H1602Q;ENSP00000341887:H1665Q;ENSP00000356222:H1595Q	ENSP00000265368:H1595Q	H	-	3	2	SYNE1	152792943	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.848000	0.39309	0.141000	0.18875	0.528000	0.53228	CAT		0.289	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		17	31	0	0	0	1	0	17	31				
TBP	6908	broad.mit.edu	37	6	170871058	170871058	+	Silent	SNP	G	G	A	rs113440919		TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr6:170871058G>A	ENST00000392092.2	+	3	513	c.234G>A	c.(232-234)caG>caA	p.Q78Q	TBP_ENST00000540980.1_Silent_p.Q58Q|TBP_ENST00000230354.6_Silent_p.Q78Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	78	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.577																																						ENST00000392092.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(232-234)caG>caA		TATA box binding protein							13.0	18.0	16.0					6																	170871058		1927	3786	5713	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871058G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.234G>A	6.37:g.170871058G>A						TBP_ENST00000540980.1_Silent_p.Q58Q|TBP_ENST00000230354.6_Silent_p.Q78Q	p.Q78Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	513	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	78			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.234G>A	CCDS5315.1																																																																																				0.577	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		3	25	0	0	0	1	0	3	25				
COL4A4	1286	broad.mit.edu	37	2	227973563	227973563	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr2:227973563G>A	ENST00000396625.3	-	11	886	c.679C>T	c.(679-681)Cgt>Tgt	p.R227C	COL4A4_ENST00000329662.7_Missense_Mutation_p.R227C	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	227	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		AAACCTGGACGCCCTGGTTGG	0.428																																						ENST00000396625.3																			0				breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98						c.(679-681)Cgt>Tgt		collagen, type IV, alpha 4							49.0	43.0	45.0					2																	227973563		1850	4111	5961	SO:0001583	missense	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227973563G>A		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.679C>T	2.37:g.227973563G>A	ENSP00000379866:p.Arg227Cys					COL4A4_ENST00000329662.7_Missense_Mutation_p.R227C	p.R227C	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	11	886	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	227			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.679C>T	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.975059	0.34848	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.93712	-3.27;-3.27	5.23	1.23	0.21249	.	.	.	.	.	D	0.91683	0.7371	M	0.73962	2.25	0.21147	N	0.999778	D	0.53885	0.963	P	0.48227	0.571	T	0.82936	-0.0210	9	0.37606	T	0.19	.	1.7184	0.02906	0.1553:0.0958:0.208:0.541	.	227	P53420	CO4A4_HUMAN	C	227	ENSP00000379866:R227C;ENSP00000328553:R227C	ENSP00000328553:R227C	R	-	1	0	COL4A4	227681807	0.052000	0.20516	0.934000	0.37439	0.343000	0.28985	0.570000	0.23653	0.374000	0.24650	-0.302000	0.09304	CGT		0.428	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		9	24	0	0	0	1	0	9	24				
FAT3	120114	broad.mit.edu	37	11	92087934	92087934	+	Missense_Mutation	SNP	G	G	A	rs376814803		TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr11:92087934G>A	ENST00000298047.6	+	1	2673	c.2656G>A	c.(2656-2658)Gtt>Att	p.V886I	FAT3_ENST00000525166.1_Missense_Mutation_p.V736I|FAT3_ENST00000409404.2_Missense_Mutation_p.V886I|FAT3_ENST00000541502.1_Missense_Mutation_p.V886I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	886	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AACTGGAATCGTTTATGTAGC	0.448										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(2656-2658)Gtt>Att		FAT atypical cadherin 3		G	ILE/VAL	2,3848		0,2,1923	107.0	102.0	104.0		2656	1.6	0.1	11		104	0,8272		0,0,4136	no	missense	FAT3	NM_001008781.2	29	0,2,6059	AA,AG,GG		0.0,0.0519,0.0165	benign	886/4558	92087934	2,12120	1925	4136	6061	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92087934G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.2656G>A	11.37:g.92087934G>A	ENSP00000298047:p.Val886Ile	TCGA Ovarian(4;0.039)				FAT3_ENST00000525166.1_Missense_Mutation_p.V736I|FAT3_ENST00000409404.2_Missense_Mutation_p.V886I|FAT3_ENST00000541502.1_Missense_Mutation_p.V886I	p.V886I			Q8TDW7	FAT3_HUMAN			1	2673	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	886			Cadherin 8.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.2656G>A		.	.	.	.	.	.	.	.	.	.	G	9.899	1.206477	0.22205	5.19E-4	0.0	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	5.59	1.64	0.23874	.	.	.	.	.	T	0.30008	0.0751	N	0.13003	0.285	0.31466	N	0.668922	B	0.26577	0.153	B	0.21917	0.037	T	0.31724	-0.9933	9	0.15066	T	0.55	.	8.7649	0.34698	0.3598:0.0:0.6402:0.0	.	886	Q8TDW7-3	.	I	886;886;886;736	ENSP00000298047:V886I;ENSP00000387040:V886I;ENSP00000443786:V886I;ENSP00000432586:V736I	ENSP00000298047:V886I	V	+	1	0	FAT3	91727582	0.739000	0.28196	0.113000	0.21522	0.959000	0.62525	1.106000	0.31098	0.054000	0.16065	0.467000	0.42956	GTT		0.448	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		18	54	0	0	0	1	0	18	54				
BCL11A	53335	broad.mit.edu	37	2	60688671	60688671	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr2:60688671G>A	ENST00000335712.6	-	4	1603	c.1376C>T	c.(1375-1377)gCc>gTc	p.A459V	BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000538214.1_Missense_Mutation_p.A425V|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Missense_Mutation_p.A459V|BCL11A_ENST00000358510.4_Missense_Mutation_p.A425V|BCL11A_ENST00000537768.1_Missense_Mutation_p.A128V	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	459					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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 negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CGCGCTGCTGGCGCTGCCCAC	0.647			T	IGH@	B-CLL																																	ENST00000335712.6				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59						c.(1375-1377)gCc>gTc		B-cell CLL/lymphoma 11A (zinc finger protein)							34.0	36.0	35.0					2																	60688671		2202	4300	6502	SO:0001583	missense	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60688671G>A	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.1376C>T	2.37:g.60688671G>A	ENSP00000338774:p.Ala459Val					BCL11A_ENST00000356842.4_Missense_Mutation_p.A459V|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000358510.4_Missense_Mutation_p.A425V|BCL11A_ENST00000538214.1_Missense_Mutation_p.A425V|BCL11A_ENST00000537768.1_Missense_Mutation_p.A128V|BCL11A_ENST00000359629.5_Intron	p.A459V	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	1603	-			459					D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000335712.6	37	c.1376C>T	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.854989	0.51376	.	.	ENSG00000119866	ENST00000356842;ENST00000378117;ENST00000538214;ENST00000537768;ENST00000335712;ENST00000358510	T;T;T;T;T	0.09538	2.97;3.25;3.15;3.25;3.18	5.27	5.27	0.74061	.	0.000000	0.52532	D	0.000078	T	0.31263	0.0791	L	0.59436	1.845	0.80722	D	1	D;D;D;D;D	0.69078	0.996;0.993;0.996;0.969;0.997	D;D;D;P;D	0.77557	0.99;0.935;0.971;0.787;0.985	T	0.00785	-1.1567	10	0.46703	T	0.11	-1.7617	18.9015	0.92444	0.0:0.0:1.0:0.0	.	425;128;425;459;459	F5H2Y4;B4DT16;Q9H165-6;Q9H165;D9YZV9	.;.;.;BC11A_HUMAN;.	V	459;495;425;128;459;425	ENSP00000349300:A459V;ENSP00000438303:A425V;ENSP00000443712:A128V;ENSP00000338774:A459V;ENSP00000351307:A425V	ENSP00000338774:A459V	A	-	2	0	BCL11A	60542175	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.876000	0.87215	2.461000	0.83175	0.655000	0.94253	GCC		0.647	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		13	18	0	0	0	1	0	13	18				
GUSBP3	653188	broad.mit.edu	37	5	68902931	68902931	+	RNA	SNP	C	C	T			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr5:68902931C>T	ENST00000510264.2	+	0	6																											TAAATATTTTCTCACTGCTTC	0.408																																						ENST00000510264.2																			0																																																			0							g.chr5:68902931C>T																													5.37:g.68902931C>T														0	6	+									RNA	SNP	ENST00000510264.2	37																																																																																						0.408	RP11-848G14.2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000379152.1			20	188	0	0	0	1	0	20	188				
ANAPC4	29945	broad.mit.edu	37	4	25393993	25393993	+	Nonsense_Mutation	SNP	G	G	T			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr4:25393993G>T	ENST00000315368.3	+	10	881	c.739G>T	c.(739-741)Gaa>Taa	p.E247*	ANAPC4_ENST00000510092.1_Nonsense_Mutation_p.E247*	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	247					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				TTTCTTACCTGAAGTAACTCG	0.338																																						ENST00000315368.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27						c.(739-741)Gaa>Taa		anaphase promoting complex subunit 4							149.0	142.0	144.0					4																	25393993		2202	4300	6502	SO:0001587	stop_gained	29945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr4:25393993G>T	AF191338	CCDS3434.1, CCDS68684.1	4p15.31	2011-06-15			ENSG00000053900	ENSG00000053900		"""Anaphase promoting complex subunits"""	19990	protein-coding gene	gene with protein product		606947				6180011	Standard	NM_013367		Approved	APC4	uc003gro.3	Q9UJX5	OTTHUMG00000097753	ENST00000315368.3:c.739G>T	4.37:g.25393993G>T	ENSP00000318775:p.Glu247*					ANAPC4_ENST00000510092.1_Nonsense_Mutation_p.E247*	p.E247*	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN			10	881	+		Breast(46;0.0503)	247					A8K8H1|E9PCR4|Q6PCC6|Q9NSH6	Nonsense_Mutation	SNP	ENST00000315368.3	37	c.739G>T	CCDS3434.1	.	.	.	.	.	.	.	.	.	.	G	38	6.869708	0.97901	.	.	ENSG00000053900	ENST00000315368;ENST00000510092	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-28.3794	19.8753	0.96867	0.0:0.0:1.0:0.0	.	.	.	.	X	247	.	ENSP00000318775:E247X	E	+	1	0	ANAPC4	25003091	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.307000	0.96226	2.711000	0.92665	0.655000	0.94253	GAA		0.338	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214986.1	NM_013367		15	72	1	0	3.99206e-14	1	4.155e-14	15	72				
KRT16P2	400578	broad.mit.edu	37	17	16734855	16734855	+	RNA	SNP	C	C	T	rs688852	byFrequency	TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr17:16734855C>T	ENST00000579062.1	-	0	460									keratin 16 pseudogene 2									p.R183Q(1)									CACAGTCTGCCGCAGGGCCAG	0.632																																						ENST00000579062.1																			1	Substitution - Missense(1)	p.R183Q(1)	endometrium(1)																																																0							g.chr17:16734855C>T			17p11.2	2010-02-25			ENSG00000227300	ENSG00000227300			37807	pseudogene	pseudogene							Standard	NR_029392		Approved		uc010vwr.1		OTTHUMG00000059177		17.37:g.16734855C>T														0	460	-									RNA	SNP	ENST00000579062.1	37																																																																																						0.632	KRT16P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444288.2	NR_029392		4	33	0	0	0	1	0	4	33				
ANKRD36BP2	645784	broad.mit.edu	37	2	89100664	89100664	+	RNA	SNP	C	C	G			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr2:89100664C>G	ENST00000393525.3	+	0	1138									ankyrin repeat domain 36B pseudogene 2																		AAAGGCAATACTTAATATTCA	0.363																																						ENST00000393525.3																			0																																																			0							g.chr2:89100664C>G			2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89100664C>G														0	1138	+									RNA	SNP	ENST00000393525.3	37																																																																																						0.363	ANKRD36BP2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000323523.1			26	89	0	0	0	1	0	26	89				
PCDHAC1	56135	broad.mit.edu	37	5	140308857	140308857	+	Missense_Mutation	SNP	T	T	A	rs560527071	byFrequency	TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr5:140308857T>A	ENST00000253807.2	+	1	2380	c.2380T>A	c.(2380-2382)Tcc>Acc	p.S794T	PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.S794T|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	794					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTGCCAATATCCTGTATTCA	0.463																																						ENST00000253807.2																			0				NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65						c.(2380-2382)Tcc>Acc									121.0	113.0	115.0					5																	140308857		2203	4300	6503	SO:0001583	missense	0							g.chr5:140308857T>A	AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"""Cadherins / Protocadherins : Clustered"""	8676	other	complex locus constituent	"""PCDH-ALPHA-C1"""	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.2380T>A	5.37:g.140308857T>A	ENSP00000253807:p.Ser794Thr					PCDHA13_ENST00000289272.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.S794T|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron	p.S794T	NM_018898.3	NP_061721.2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2380	+								Q9Y5F5|Q9Y5I5	Missense_Mutation	SNP	ENST00000253807.2	37	c.2380T>A	CCDS4241.1	.	.	.	.	.	.	.	.	.	.	T	10.45	1.354025	0.24512	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.53206	0.63;0.64	5.75	4.58	0.56647	.	.	.	.	.	T	0.33265	0.0857	N	0.22421	0.69	0.21652	N	0.9996	P;P	0.41848	0.761;0.763	B;B	0.42282	0.247;0.382	T	0.07558	-1.0766	9	0.12430	T	0.62	.	9.3181	0.37946	0.0:0.1566:0.0:0.8434	.	794;794	Q9H158;Q9H158-2	PCDC1_HUMAN;.	T	794	ENSP00000386356:S794T;ENSP00000253807:S794T	ENSP00000253807:S794T	S	+	1	0	PCDHAC1	140289041	0.998000	0.40836	0.996000	0.52242	0.978000	0.69477	1.263000	0.33004	1.002000	0.39104	0.460000	0.39030	TCC		0.463	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	NM_018898		24	64	0	0	0	1	0	24	64				
TMEM50A	23585	broad.mit.edu	37	1	25679432	25679432	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr1:25679432A>G	ENST00000374358.4	+	5	887	c.334A>G	c.(334-336)Atg>Gtg	p.M112V	TMEM50A_ENST00000480937.1_Intron	NM_014313.3	NP_055128.1	O95807	TM50A_HUMAN	transmembrane protein 50A	112						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;3.47e-27)|Colorectal(126;1.1e-08)|COAD - Colon adenocarcinoma(152;7.48e-07)|STAD - Stomach adenocarcinoma(196;0.00035)|BRCA - Breast invasive adenocarcinoma(304;0.00047)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|GBM - Glioblastoma multiforme(114;0.00106)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.204)		GATTGCATCTATGTGGATTCT	0.343																																						ENST00000374358.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6						c.(334-336)Atg>Gtg		transmembrane protein 50A							165.0	158.0	160.0					1																	25679432		2203	4300	6503	SO:0001583	missense	23585					endoplasmic reticulum|integral to membrane		g.chr1:25679432A>G	AY071927	CCDS264.1	1p36.11	2008-02-05			ENSG00000183726	ENSG00000183726			30590	protein-coding gene	gene with protein product	"""small membrane protein 1"""	605348				10938938, 10845894	Standard	NM_014313		Approved	SMP1	uc001bke.3	O95807	OTTHUMG00000007651	ENST00000374358.4:c.334A>G	1.37:g.25679432A>G	ENSP00000363478:p.Met112Val					TMEM50A_ENST00000480937.1_Intron	p.M112V	NM_014313.3	NP_055128.1	O95807	TM50A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;3.47e-27)|Colorectal(126;1.1e-08)|COAD - Colon adenocarcinoma(152;7.48e-07)|STAD - Stomach adenocarcinoma(196;0.00035)|BRCA - Breast invasive adenocarcinoma(304;0.00047)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|GBM - Glioblastoma multiforme(114;0.00106)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.204)	5	887	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	112						Missense_Mutation	SNP	ENST00000374358.4	37	c.334A>G	CCDS264.1	.	.	.	.	.	.	.	.	.	.	A	8.716	0.913243	0.17907	.	.	ENSG00000183726	ENST00000374358	T	0.26957	1.7	5.83	4.66	0.58398	.	0.033413	0.85682	D	0.000000	T	0.15782	0.0380	L	0.31420	0.93	0.58432	D	0.999997	B	0.10296	0.003	B	0.16722	0.016	T	0.04537	-1.0944	10	0.02654	T	1	-5.3697	11.3583	0.49627	0.8646:0.0:0.0:0.1354	.	112	O95807	TM50A_HUMAN	V	112	ENSP00000363478:M112V	ENSP00000363478:M112V	M	+	1	0	TMEM50A	25552019	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	6.471000	0.73562	2.228000	0.72767	0.456000	0.33151	ATG		0.343	TMEM50A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020313.1			28	51	0	0	0	1	0	28	51				
LRRFIP1	9208	broad.mit.edu	37	2	238683013	238683013	+	Missense_Mutation	SNP	G	G	C			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr2:238683013G>C	ENST00000308482.9	+	23	1789	c.1720G>C	c.(1720-1722)Gag>Cag	p.E574Q		NM_001137550.1	NP_001131022.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	0	DNA-binding.|Lys-rich.				innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		AATAAGGTTAGAGAGTCAAGT	0.323																																						ENST00000308482.9																			0				NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29						c.(1720-1722)Gag>Cag		leucine rich repeat (in FLII) interacting protein 1							70.0	62.0	65.0					2																	238683013		1568	3582	5150	SO:0001583	missense	9208				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding	g.chr2:238683013G>C	AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"""GC-binding factor 2"""	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000308482.9:c.1720G>C	2.37:g.238683013G>C	ENSP00000310109:p.Glu574Gln						p.E574Q	NM_001137550.1	NP_001131022.1	Q32MZ4	LRRF1_HUMAN		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)	23	1789	+		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	623			DNA-binding.|Lys-rich.		E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Missense_Mutation	SNP	ENST00000308482.9	37	c.1720G>C	CCDS46551.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.712203	0.89112	.	.	ENSG00000124831	ENST00000308482;ENST00000391999	D	0.86297	-2.1	5.29	5.29	0.74685	.	.	.	.	.	D	0.93818	0.8023	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71656	0.974;0.959	D	0.94433	0.7651	9	0.87932	D	0	.	18.2861	0.90114	0.0:0.0:1.0:0.0	.	328;574	B4DPC0;E9PGZ2	.;.	Q	574;564	ENSP00000310109:E574Q	ENSP00000310109:E574Q	E	+	1	0	LRRFIP1	238347752	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.296000	0.96104	2.635000	0.89317	0.557000	0.71058	GAG		0.323	LRRFIP1-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000257169.3	NM_004735		3	14	0	0	0	1	0	3	14				
BAAT	570	broad.mit.edu	37	9	104133252	104133252	+	Silent	SNP	G	G	A			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr9:104133252G>A	ENST00000395051.3	-	1	505	c.435C>T	c.(433-435)ggC>ggT	p.G145G	BAAT_ENST00000259407.2_Silent_p.G145G			Q14032	BAAT_HUMAN	bile acid CoA:amino acid N-acyltransferase	145					acyl-CoA metabolic process (GO:0006637)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid conjugation (GO:0002152)|bile acid metabolic process (GO:0008206)|fatty acid metabolic process (GO:0006631)|glycine metabolic process (GO:0006544)|liver development (GO:0001889)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|taurine metabolic process (GO:0019530)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carboxylic ester hydrolase activity (GO:0052689)|glycine N-choloyltransferase activity (GO:0047963)|long-chain acyl-CoA hydrolase activity (GO:0052816)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|N-acyltransferase activity (GO:0016410)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|very long chain acyl-CoA hydrolase activity (GO:0052817)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	CTCGAAGGCGGCCTTCTCGAA	0.438																																						ENST00000259407.2																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23						c.(433-435)ggC>ggT		bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)	Glycine(DB00145)						83.0	83.0	83.0					9																	104133252		2203	4300	6503	SO:0001819	synonymous_variant	570				acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity	g.chr9:104133252G>A	L34081	CCDS6752.1	9q22.3	2014-06-24	2014-06-24		ENSG00000136881	ENSG00000136881	2.3.1.65		932	protein-coding gene	gene with protein product	"""glycine N-choloyltransferase"""	602938	"""bile acid Coenzyme A:amino acid N-acyltransferase (glycine N-choloyltransferase)"", ""bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)"""				Standard	NM_001701		Approved	BAT	uc010mtd.3	Q14032	OTTHUMG00000020377	ENST00000395051.3:c.435C>T	9.37:g.104133252G>A						BAAT_ENST00000395051.3_Silent_p.G145G	p.G145G	NM_001127610.1|NM_001701.3	NP_001121082.1|NP_001692.1	Q14032	BAAT_HUMAN			2	543	-		Acute lymphoblastic leukemia(62;0.0559)	145					Q3B7W9|Q96L31	Silent	SNP	ENST00000395051.3	37	c.435C>T	CCDS6752.1																																																																																				0.438	BAAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053433.1			3	50	0	0	0	1	0	3	50				
DLEC1	9940	broad.mit.edu	37	3	38155877	38155877	+	Silent	SNP	G	G	A	rs377488944		TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr3:38155877G>A	ENST00000308059.6	+	26	3732	c.3711G>A	c.(3709-3711)gcG>gcA	p.A1237A	DLEC1_ENST00000452631.2_Silent_p.A1240A|DLEC1_ENST00000346219.3_Silent_p.A1237A					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		ACATGGCAGCGGTGGGCTGCC	0.617																																						ENST00000308059.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51						c.(3709-3711)gcG>gcA		deleted in lung and esophageal cancer 1		A	,	0,4312		0,0,2156	57.0	69.0	65.0		3711,3711	0.2	0.3	3		65	2,8506		0,2,4252	no	coding-synonymous,coding-synonymous	DLEC1	NM_007335.2,NM_007337.2	,	0,2,6408	AA,AG,GG		0.0235,0.0,0.0156	,	1237/1756,1237/1779	38155877	2,12818	2156	4254	6410	SO:0001819	synonymous_variant	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38155877G>A	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.3711G>A	3.37:g.38155877G>A						DLEC1_ENST00000452631.2_Silent_p.A1240A|DLEC1_ENST00000346219.3_Silent_p.A1237A	p.A1237A			Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	26	3732	+			1237						Silent	SNP	ENST00000308059.6	37	c.3711G>A	CCDS2672.2																																																																																				0.617	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		10	20	0	0	0	1	0	10	20				
LRP1B	53353	broad.mit.edu	37	2	141458086	141458086	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr2:141458086C>A	ENST00000389484.3	-	41	7503	c.6532G>T	c.(6532-6534)Gat>Tat	p.D2178Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2178	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTAACTCCATCTTCTGCCAAA	0.408										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(6532-6534)Gat>Tat		low density lipoprotein receptor-related protein 1B							97.0	98.0	98.0					2																	141458086		2203	4299	6502	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141458086C>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.6532G>T	2.37:g.141458086C>A	ENSP00000374135:p.Asp2178Tyr	TSP Lung(27;0.18)					p.D2178Y	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	41	7503	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2178			EGF-like 5.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.6532G>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.499048	0.64298	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.96716	-4.1	4.47	4.47	0.54385	Epidermal growth factor-like (1);EGF-like region, conserved site (1);	0.000000	0.64402	U	0.000001	D	0.98327	0.9445	H	0.97240	3.965	0.51482	D	0.999928	D	0.58970	0.984	P	0.57371	0.819	D	0.98860	1.0762	10	0.87932	D	0	.	11.0967	0.48147	0.0:0.9132:0.0:0.0867	.	2178	Q9NZR2	LRP1B_HUMAN	Y	2178;2116	ENSP00000374135:D2178Y	ENSP00000374135:D2178Y	D	-	1	0	LRP1B	141174556	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.848000	0.62874	2.176000	0.68965	0.585000	0.79938	GAT		0.408	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		32	89	1	0	2.49534e-26	1	2.76658e-26	32	89				
LTBP2	4053	broad.mit.edu	37	14	74989505	74989505	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr14:74989505C>T	ENST00000261978.4	-	16	3033	c.2647G>A	c.(2647-2649)Gcc>Acc	p.A883T	LTBP2_ENST00000556690.1_Missense_Mutation_p.A883T	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	883	Cys-rich.|EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GTGCAGTAGGCCTGGCTGGGG	0.612																																						ENST00000261978.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(2647-2649)Gcc>Acc		latent transforming growth factor beta binding protein 2							44.0	32.0	36.0					14																	74989505		2203	4300	6503	SO:0001583	missense	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:74989505C>T		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.2647G>A	14.37:g.74989505C>T	ENSP00000261978:p.Ala883Thr					LTBP2_ENST00000556690.1_Missense_Mutation_p.A883T	p.A883T	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	16	3033	-			883			Cys-rich.|EGF-like 4.		Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	c.2647G>A	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	C	1.551	-0.539119	0.04053	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	D;D	0.91295	-2.82;-2.82	4.75	0.74	0.18330	Epidermal growth factor-like (1);EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.568447	0.14658	N	0.306178	T	0.71367	0.3331	N	0.03084	-0.415	0.26632	N	0.972454	B	0.24092	0.097	B	0.21360	0.034	T	0.60939	-0.7163	10	0.12430	T	0.62	.	3.6932	0.08354	0.0:0.4515:0.1837:0.3648	.	883	Q14767	LTBP2_HUMAN	T	883	ENSP00000261978:A883T;ENSP00000451477:A883T	ENSP00000261978:A883T	A	-	1	0	LTBP2	74059258	0.358000	0.24947	0.998000	0.56505	0.475000	0.33008	-0.056000	0.11787	0.622000	0.30249	-0.140000	0.14226	GCC		0.612	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		8	25	0	0	0	1	0	8	25				
DNA2	1763	broad.mit.edu	37	10	70231685	70231685	+	5'Flank	SNP	G	G	A			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr10:70231685G>A	ENST00000358410.3	-	0	0				DNA2_ENST00000399180.2_Silent_p.S65S|DNA2_ENST00000399179.2_5'UTR	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2						ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						AACACAGAAAGCTTAGAAAAG	0.617																																						ENST00000399180.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						c.(193-195)agC>agT		DNA replication helicase/nuclease 2							31.0	36.0	34.0					10																	70231685		1867	4090	5957	SO:0001631	upstream_gene_variant	1763				base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base	g.chr10:70231685G>A	D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"""DNA2 DNA replication helicase 2-like (yeast)"", ""DNA replication helicase 2 homolog (yeast)"""	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352		10.37:g.70231685G>A	Exception_encountered					DNA2_ENST00000399179.2_5'UTR	p.S65S			P51530	DNA2L_HUMAN			1	194	-			0					Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Silent	SNP	ENST00000358410.3	37	c.195C>T																																																																																					0.617	DNA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048334.2			6	20	0	0	0	1	0	6	20				
OR51S1	119692	broad.mit.edu	37	11	4870309	4870309	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr11:4870309G>A	ENST00000322101.2	-	1	205	c.130C>T	c.(130-132)Ctt>Ttt	p.L44F	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	44						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCAGAGAGAAGGTAGACAGCA	0.572																																						ENST00000322101.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(130-132)Ctt>Ttt		olfactory receptor, family 51, subfamily S, member 1							106.0	89.0	95.0					11																	4870309		2201	4298	6499	SO:0001583	missense	119692				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4870309G>A	AB065796	CCDS31362.1	11p15.4	2012-08-09			ENSG00000176922	ENSG00000176922		"""GPCR / Class A : Olfactory receptors"""	15204	protein-coding gene	gene with protein product							Standard	NM_001004758		Approved		uc010qyo.2	Q8NGJ8	OTTHUMG00000066506	ENST00000322101.2:c.130C>T	11.37:g.4870309G>A	ENSP00000322754:p.Leu44Phe					MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	p.L44F	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	205	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	44					B9EGZ1|Q6IFI2	Missense_Mutation	SNP	ENST00000322101.2	37	c.130C>T	CCDS31362.1	.	.	.	.	.	.	.	.	.	.	G	7.226	0.598292	0.13939	.	.	ENSG00000176922	ENST00000322101	T	0.17213	2.29	5.3	1.1	0.20463	.	0.184221	0.26499	N	0.024036	T	0.07234	0.0183	N	0.08118	0	0.33313	D	0.566299	B	0.19200	0.034	B	0.20384	0.029	T	0.10086	-1.0645	10	0.46703	T	0.11	-5.046	4.6684	0.12676	0.0708:0.2353:0.4527:0.2412	.	44	Q8NGJ8	O51S1_HUMAN	F	44	ENSP00000322754:L44F	ENSP00000322754:L44F	L	-	1	0	OR51S1	4826885	0.003000	0.15002	0.976000	0.42696	0.063000	0.16089	-0.422000	0.07043	0.374000	0.24650	-0.311000	0.09066	CTT		0.572	OR51S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142179.1	NM_001004758		7	41	0	0	0	1	0	7	41				
SLC2A1	6513	broad.mit.edu	37	1	43392795	43392795	+	Missense_Mutation	SNP	C	C	T	rs138139624		TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr1:43392795C>T	ENST00000426263.3	-	10	1574	c.1396G>A	c.(1396-1398)Ggc>Agc	p.G466S	SLC2A1_ENST00000475162.1_Intron	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	466					carbohydrate metabolic process (GO:0005975)|cellular response to glucose starvation (GO:0042149)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|protein complex assembly (GO:0006461)|regulation of insulin secretion (GO:0050796)|response to osmotic stress (GO:0006970)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|female pronucleus (GO:0001939)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|identical protein binding (GO:0042802)|protein self-association (GO:0043621)|xenobiotic transporter activity (GO:0042910)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	TGCCGGAAGCCGGAAGCGATC	0.557																																						ENST00000426263.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13						c.(1396-1398)Ggc>Agc		solute carrier family 2 (facilitated glucose transporter), member 1	Etomidate(DB00292)	C	SER/GLY	0,4406		0,0,2203	71.0	71.0	71.0		1396	5.6	1.0	1	dbSNP_134	71	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC2A1	NM_006516.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	466/493	43392795	1,13005	2203	4300	6503	SO:0001583	missense	6513				carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	g.chr1:43392795C>T	K03195	CCDS477.1	1p34.2	2013-05-22			ENSG00000117394	ENSG00000117394		"""Solute carriers"""	11005	protein-coding gene	gene with protein product		138140	"""human T-cell leukemia virus (I and II) receptor"""	GLUT1, GLUT, HTLVR		8839927, 14622599, 18451999	Standard	NM_006516		Approved	DYT18	uc001cik.2	P11166	OTTHUMG00000007657	ENST00000426263.3:c.1396G>A	1.37:g.43392795C>T	ENSP00000416293:p.Gly466Ser					SLC2A1_ENST00000475162.1_Intron	p.G466S	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN			10	1574	-	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)	466					A8K9S6|B2R620|D3DPX0|O75535|Q147X2	Missense_Mutation	SNP	ENST00000426263.3	37	c.1396G>A	CCDS477.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.533288	0.27387	0.0	1.16E-4	ENSG00000117394	ENST00000426263;ENST00000397019	T	0.74209	-0.82	5.59	5.59	0.84812	.	0.218979	0.48767	D	0.000163	T	0.55417	0.1919	N	0.11064	0.09	0.80722	D	1	B	0.19445	0.036	B	0.13407	0.009	T	0.53961	-0.8364	10	0.09084	T	0.74	.	17.0883	0.86616	0.0:1.0:0.0:0.0	.	466	P11166	GTR1_HUMAN	S	466;408	ENSP00000416293:G466S	ENSP00000380214:G408S	G	-	1	0	SLC2A1	43165382	0.790000	0.28787	0.960000	0.40013	0.898000	0.52572	2.454000	0.44979	2.642000	0.89623	0.561000	0.74099	GGC		0.557	SLC2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020358.2	NM_006516		23	47	0	0	0	1	0	23	47				
IGKV1-27	28935	broad.mit.edu	37	2	89512999	89512999	+	RNA	SNP	C	C	G			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr2:89512999C>G	ENST00000498435.1	-	0	290									immunoglobulin kappa variable 1-27																		CCCAGATCCACTGCCACTGAA	0.488																																						ENST00000498435.1																			0																				113.0	105.0	108.0					2																	89512999		1886	4114	6000			0							g.chr2:89512999C>G	X63398		2p11.2	2012-02-10			ENSG00000244575	ENSG00000244575		"""Immunoglobulins / IGK locus"""	5735	other	immunoglobulin gene							Standard	NG_000834		Approved	IGKV127, A20			OTTHUMG00000151640		2.37:g.89512999C>G														0	290	-									RNA	SNP	ENST00000498435.1	37																																																																																						0.488	IGKV1-27-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323389.1	NG_000834		5	66	0	0	0	1	0	5	66				
PCDHA9	9752	broad.mit.edu	37	5	140242936	140242936	+	Intron	SNP	C	C	T			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr5:140242936C>T	ENST00000532602.1	+	1	3427				PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA14_ENST00000562220.1_RNA|PCDHA6_ENST00000529310.1_Intron|AC005609.1_ENST00000502505.1_Missense_Mutation_p.V14I|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTACACGACGCTGCGGTGC	0.617																																					Melanoma(55;1800 1972 14909)	ENST00000502505.1																			0											c.(40-42)Gtc>Atc																																						SO:0001627	intron_variant	0							g.chr5:140242936C>T	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.2394+12462C>T	5.37:g.140242936C>T						PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA14_ENST00000562220.1_RNA|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron	p.V14I							1	288	-								O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.40G>A	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	C	6.414	0.444529	0.12164	.	.	ENSG00000249034	ENST00000502505	.	.	.	4.21	3.31	0.37934	.	.	.	.	.	T	0.25195	0.0612	.	.	.	0.35006	D	0.756463	P	0.35139	0.486	B	0.27262	0.078	T	0.22695	-1.0209	7	0.20046	T	0.44	.	5.4599	0.16612	0.0:0.646:0.1774:0.1766	.	14	Q8NB83	.	I	14	.	ENSP00000424817:V14I	V	-	1	0	AC005609.17	140223120	0.094000	0.21725	0.038000	0.18304	0.098000	0.18820	1.789000	0.38724	0.940000	0.37473	0.313000	0.20887	GTC		0.617	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		9	30	0	0	0	1	0	9	30				
DNAJC4	3338	broad.mit.edu	37	11	63999914	63999914	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr11:63999914C>T	ENST00000321685.3	+	4	658	c.193C>T	c.(193-195)Cgg>Tgg	p.R65W	DNAJC4_ENST00000355040.4_Intron|RP11-783K16.14_ENST00000534988.1_RNA|VEGFB_ENST00000426086.2_5'Flank|DNAJC4_ENST00000321460.5_Missense_Mutation_p.R65W|RP11-783K16.14_ENST00000539963.1_RNA|VEGFB_ENST00000309422.2_5'Flank	NM_005528.3	NP_005519.2	Q9NNZ3	DNJC4_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 4	65	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	unfolded protein binding (GO:0051082)			endometrium(1)|lung(1)|prostate(1)	3						GCACCCAGACCGGGACCCTGG	0.642																																						ENST00000321685.3																			0				endometrium(1)|lung(1)|prostate(1)	3						c.(193-195)Cgg>Tgg		DnaJ (Hsp40) homolog, subfamily C, member 4							30.0	41.0	37.0					11																	63999914		2037	4174	6211	SO:0001583	missense	3338				protein folding|response to unfolded protein	integral to membrane|membrane fraction	heat shock protein binding|unfolded protein binding	g.chr11:63999914C>T	AF012106	CCDS41666.1	11q13	2011-09-02			ENSG00000110011	ENSG00000110011		"""Heat shock proteins / DNAJ (HSP40)"""	5271	protein-coding gene	gene with protein product		604189		HSPF2		9473517, 11147971	Standard	NM_005528		Approved	MCG18	uc001nys.3	Q9NNZ3	OTTHUMG00000167792	ENST00000321685.3:c.193C>T	11.37:g.63999914C>T	ENSP00000396896:p.Arg65Trp					DNAJC4_ENST00000321460.5_Missense_Mutation_p.R65W|RP11-783K16.14_ENST00000539963.1_RNA|RP11-783K16.14_ENST00000534988.1_RNA|DNAJC4_ENST00000355040.4_Intron	p.R65W	NM_005528.3	NP_005519.2	Q9NNZ3	DNJC4_HUMAN			4	658	+			65			J.		O14716	Missense_Mutation	SNP	ENST00000321685.3	37	c.193C>T	CCDS41666.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.178307	0.57692	.	.	ENSG00000110011	ENST00000321685;ENST00000321460	T;T	0.33865	1.39;1.39	4.59	1.49	0.22878	Heat shock protein DnaJ, N-terminal (5);	0.148790	0.48767	D	0.000172	T	0.53142	0.1778	M	0.78456	2.415	0.42068	D	0.991199	D;D	0.89917	1.0;1.0	D;D	0.81914	0.991;0.995	T	0.49881	-0.8892	10	0.66056	D	0.02	-18.9823	5.3574	0.16069	0.3522:0.5497:0.0:0.0981	.	65;65	Q6PIN0;Q9NNZ3	.;DNJC4_HUMAN	W	65	ENSP00000396896:R65W;ENSP00000320548:R65W	ENSP00000320548:R65W	R	+	1	2	DNAJC4	63756490	1.000000	0.71417	0.720000	0.30636	0.670000	0.39368	0.863000	0.27913	0.087000	0.17167	0.462000	0.41574	CGG		0.642	DNAJC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396305.1			4	28	0	0	0	1	0	4	28				
SKIV2L	6499	broad.mit.edu	37	6	31937454	31937454	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr6:31937454C>T	ENST00000375394.2	+	28	3816	c.3703C>T	c.(3703-3705)Cgg>Tgg	p.R1235W	SKIV2L_ENST00000544581.1_Missense_Mutation_p.R1042W|STK19_ENST00000375333.2_5'Flank|STK19_ENST00000375331.2_5'Flank|DXO_ENST00000478221.1_5'Flank	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	1235					ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CTTGCTACGGCGGGACATCGT	0.577																																						ENST00000375394.2																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						c.(3703-3705)Cgg>Tgg		superkiller viralicidic activity 2-like (S. cerevisiae)							66.0	69.0	68.0					6																	31937454		1510	2709	4219	SO:0001583	missense	6499					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr6:31937454C>T		CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"""superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"""	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.3703C>T	6.37:g.31937454C>T	ENSP00000364543:p.Arg1235Trp					SKIV2L_ENST00000544581.1_Missense_Mutation_p.R1042W	p.R1235W	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN			28	3816	+			1235					O15005|Q12902|Q15476|Q5ST66	Missense_Mutation	SNP	ENST00000375394.2	37	c.3703C>T	CCDS4731.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.811180	0.50527	.	.	ENSG00000204351	ENST00000375394;ENST00000433155;ENST00000544581	T;T	0.58652	0.32;0.32	5.52	0.13	0.14746	DSH, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.76521	0.3999	M	0.93898	3.47	0.49051	D	0.999748	D	0.89917	1.0	D	0.97110	1.0	D	0.84706	0.0731	10	0.87932	D	0	-28.0131	17.9425	0.89029	0.8098:0.1902:0.0:0.0	.	1235	Q15477	SKIV2_HUMAN	W	1235;1077;1042	ENSP00000364543:R1235W;ENSP00000442645:R1042W	ENSP00000364543:R1235W	R	+	1	2	SKIV2L	32045433	0.999000	0.42202	0.620000	0.29132	0.870000	0.49936	0.762000	0.26503	-0.300000	0.08895	-0.181000	0.13052	CGG		0.577	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3			4	57	0	0	0	1	0	4	57				
G6PC2	57818	broad.mit.edu	37	2	169758016	169758016	+	Missense_Mutation	SNP	T	T	C	rs369755574		TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr2:169758016T>C	ENST00000375363.3	+	1	267	c.175T>C	c.(175-177)Tgg>Cgg	p.W59R	SPC25_ENST00000472216.2_Intron|G6PC2_ENST00000429379.2_Missense_Mutation_p.W59R|G6PC2_ENST00000421979.1_Missense_Mutation_p.W59R	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	59					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						CAAGATGATATGGGTAGCAGT	0.294																																						ENST00000375363.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						c.(175-177)Tgg>Cgg		glucose-6-phosphatase, catalytic, 2		T	ARG/TRP,ARG/TRP	1,4405	2.1+/-5.4	0,1,2202	75.0	77.0	76.0		175,175	4.5	1.0	2		76	0,8600		0,0,4300	no	missense,missense	G6PC2	NM_001081686.1,NM_021176.2	101,101	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign,benign	59/155,59/356	169758016	1,13005	2203	4300	6503	SO:0001583	missense	57818				gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity	g.chr2:169758016T>C	AF283575	CCDS2230.1, CCDS46443.1	2q24-q31	2008-02-05			ENSG00000152254	ENSG00000152254			28906	protein-coding gene	gene with protein product	"""islet specific glucose 6 phosphatase catalytic subunit related protein"""	608058				10078553, 10078554	Standard	NM_021176		Approved	IGRP	uc002uem.3	Q9NQR9	OTTHUMG00000132182	ENST00000375363.3:c.175T>C	2.37:g.169758016T>C	ENSP00000364512:p.Trp59Arg					G6PC2_ENST00000429379.2_Missense_Mutation_p.W59R|G6PC2_ENST00000421979.1_Missense_Mutation_p.W59R|SPC25_ENST00000472216.2_Intron	p.W59R	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN			1	267	+			59					E9PAX2|Q6AHZ0	Missense_Mutation	SNP	ENST00000375363.3	37	c.175T>C	CCDS2230.1	.	.	.	.	.	.	.	.	.	.	T	13.65	2.301466	0.40694	2.27E-4	0.0	ENSG00000152254	ENST00000375363;ENST00000429379;ENST00000421979	T;T;D	0.86164	-0.83;-0.83;-2.08	5.62	4.46	0.54185	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.64402	D	0.000001	D	0.88923	0.6569	M	0.86178	2.8	0.47862	D	0.999532	B;B	0.22909	0.077;0.077	B;B	0.31812	0.136;0.136	D	0.86416	0.1751	10	0.66056	D	0.02	-0.8504	11.6323	0.51183	0.0:0.07:0.0:0.93	.	59;59	E9PAX2;Q9NQR9	.;G6PC2_HUMAN	R	59	ENSP00000364512:W59R;ENSP00000396939:W59R;ENSP00000392183:W59R	ENSP00000282075:W59R	W	+	1	0	G6PC2	169466262	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.954000	0.63631	0.948000	0.37687	-0.274000	0.10170	TGG		0.294	G6PC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255234.2	NM_021176		25	36	0	0	0	1	0	25	36				
OR52H1	390067	broad.mit.edu	37	11	5566336	5566336	+	Missense_Mutation	SNP	A	A	T			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr11:5566336A>T	ENST00000322653.4	-	1	443	c.418T>A	c.(418-420)Tat>Aat	p.Y140N	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	140						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGGTGGTATATCTCAAGGGA	0.438																																						ENST00000322653.4																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						c.(418-420)Tat>Aat		olfactory receptor, family 52, subfamily H, member 1							112.0	102.0	106.0					11																	5566336		2201	4297	6498	SO:0001583	missense	390067				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5566336A>T	AB065802	CCDS31386.1	11p15.4	2012-08-09			ENSG00000181616	ENSG00000181616		"""GPCR / Class A : Olfactory receptors"""	15218	protein-coding gene	gene with protein product							Standard	NM_001005289		Approved		uc010qzh.2	Q8NGJ2	OTTHUMG00000066909	ENST00000322653.4:c.418T>A	11.37:g.5566336A>T	ENSP00000326259:p.Tyr140Asn					HBG2_ENST00000380259.2_Intron	p.Y140N	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	443	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	140					B9EH26|Q6IF79	Missense_Mutation	SNP	ENST00000322653.4	37	c.418T>A	CCDS31386.1	.	.	.	.	.	.	.	.	.	.	A	17.19	3.326609	0.60743	.	.	ENSG00000181616	ENST00000322653	T	0.00388	7.59	5.55	5.55	0.83447	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000025	T	0.02230	0.0069	H	0.99764	4.76	0.42229	D	0.991889	D	0.89917	1.0	D	0.91635	0.999	T	0.00071	-1.2131	10	0.87932	D	0	.	9.8046	0.40786	0.919:0.0:0.081:0.0	.	140	Q8NGJ2	O52H1_HUMAN	N	140	ENSP00000326259:Y140N	ENSP00000326259:Y140N	Y	-	1	0	OR52H1	5522912	0.976000	0.34144	0.983000	0.44433	0.687000	0.40016	2.803000	0.47924	2.112000	0.64535	0.528000	0.53228	TAT		0.438	OR52H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143400.1	NM_001005289		14	27	0	0	0	1	0	14	27				
ABCG4	64137	broad.mit.edu	37	11	119031791	119031791	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr11:119031791G>A	ENST00000449422.2	+	15	2104	c.1916G>A	c.(1915-1917)cGt>cAt	p.R639H	ABCG4_ENST00000531739.1_Missense_Mutation_p.R639H|ABCG4_ENST00000307417.3_Missense_Mutation_p.R639H	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	639	ABC transmembrane type-2.				cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CTTGTGCTGCGTTACCGGGTC	0.597																																						ENST00000307417.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44						c.(1915-1917)cGt>cAt		ATP-binding cassette, sub-family G (WHITE), member 4							109.0	86.0	94.0					11																	119031791		2200	4295	6495	SO:0001583	missense	64137				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:119031791G>A	AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"""ATP binding cassette transporters / subfamily G"""	13884	protein-coding gene	gene with protein product	"""putative ABC transporter"", ""ATP-binding cassette, subfamily G, member 4"""	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.1916G>A	11.37:g.119031791G>A	ENSP00000406874:p.Arg639His					ABCG4_ENST00000531739.1_Missense_Mutation_p.R639H|ABCG4_ENST00000449422.2_Missense_Mutation_p.R639H	p.R639H	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	15	2280	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	639			ABC transmembrane type-2.		A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Missense_Mutation	SNP	ENST00000449422.2	37	c.1916G>A	CCDS8415.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.710594	0.89112	.	.	ENSG00000172350	ENST00000307417;ENST00000449422;ENST00000531739	T;T;T	0.56776	0.44;0.44;0.44	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.60728	0.2291	M	0.77820	2.39	0.80722	D	1	P	0.51933	0.949	P	0.47162	0.54	T	0.67526	-0.5648	10	0.72032	D	0.01	-8.2574	13.5055	0.61481	0.0748:0.0:0.9252:0.0	.	639	Q9H172	ABCG4_HUMAN	H	639	ENSP00000304111:R639H;ENSP00000406874:R639H;ENSP00000434318:R639H	ENSP00000304111:R639H	R	+	2	0	ABCG4	118537001	1.000000	0.71417	0.989000	0.46669	0.960000	0.62799	8.021000	0.88750	2.552000	0.86080	0.561000	0.74099	CGT		0.597	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	NM_022169		9	24	0	0	0	1	0	9	24				
SIGLEC10	89790	broad.mit.edu	37	19	51919938	51919938	+	Missense_Mutation	SNP	C	C	T	rs557047713		TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr19:51919938C>T	ENST00000339313.5	-	3	804	c.688G>A	c.(688-690)Gtc>Atc	p.V230I	SIGLEC10_ENST00000441969.3_Missense_Mutation_p.V172I|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.V230I|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.V172I|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.V147I|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.V172I|SIGLEC10_ENST00000353836.5_Missense_Mutation_p.V230I|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.V230I|CTD-2616J11.3_ENST00000532473.1_RNA|CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.V182I|CTD-2616J11.2_ENST00000532688.1_RNA			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	230	Ig-like C2-type 1.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		CGGAGTCGGACGGTCCTCTGT	0.652																																						ENST00000353836.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(688-690)Gtc>Atc		sialic acid binding Ig-like lectin 10							107.0	86.0	93.0					19																	51919938		2203	4298	6501	SO:0001583	missense	89790				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr19:51919938C>T	AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15620	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 10 Ig-like lectin 7"", ""siglec-like gene 2"""	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.688G>A	19.37:g.51919938C>T	ENSP00000345243:p.Val230Ile					SIGLEC10_ENST00000442846.3_Missense_Mutation_p.V172I|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.V182I|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.V230I|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.V230I|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.V172I|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.V172I|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.V230I|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.V147I	p.V230I	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)	3	909	-		all_neural(266;0.0199)	230			Ig-like C2-type 1.		A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Missense_Mutation	SNP	ENST00000339313.5	37	c.688G>A	CCDS12832.1	.	.	.	.	.	.	.	.	.	.	.	9.550	1.115742	0.20795	.	.	ENSG00000142512	ENST00000353836;ENST00000432469;ENST00000442846;ENST00000356298;ENST00000441969;ENST00000525998;ENST00000439889;ENST00000436984;ENST00000339313;ENST00000529627	T;T;D;T;D;T;D;D;T;D	0.87256	3.81;2.11;-2.23;3.81;-2.23;3.81;-2.23;-2.23;3.81;-2.23	4.69	-2.32	0.06745	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.745961	0.11943	N	0.514481	T	0.79799	0.4508	N	0.17248	0.465	0.09310	N	1	P;D;P;P;D;P;B	0.64830	0.893;0.975;0.698;0.921;0.994;0.664;0.343	B;P;B;P;P;B;B	0.54100	0.268;0.48;0.163;0.456;0.742;0.341;0.044	T	0.70182	-0.4942	10	0.40728	T	0.16	.	5.113	0.14819	0.0:0.4274:0.1535:0.4191	.	182;230;172;230;172;172;230	C9JM10;E9PL79;C9JJ33;Q96LC7-2;Q96LC7-6;Q96LC7-3;Q96LC7	.;.;.;.;.;.;SIG10_HUMAN	I	230;147;172;230;172;230;172;182;230;44	ENSP00000342389:V230I;ENSP00000396742:V147I;ENSP00000395475:V172I;ENSP00000348646:V230I;ENSP00000408387:V172I;ENSP00000431444:V230I;ENSP00000389132:V172I;ENSP00000414324:V182I;ENSP00000345243:V230I;ENSP00000435281:V44I	ENSP00000345243:V230I	V	-	1	0	SIGLEC10	56611750	0.000000	0.05858	0.000000	0.03702	0.132000	0.20833	-0.634000	0.05477	-0.181000	0.10619	0.313000	0.20887	GTC		0.652	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2	NM_033130		3	13	0	0	0	1	0	3	13				
LINGO2	158038	broad.mit.edu	37	9	27948877	27948877	+	Missense_Mutation	SNP	G	G	T			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr9:27948877G>T	ENST00000379992.2	-	6	2242	c.1793C>A	c.(1792-1794)cCc>cAc	p.P598H	LINGO2_ENST00000308675.3_Missense_Mutation_p.P598H	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	598						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GAACCTCCTGGGTCCAGCTAC	0.463																																						ENST00000379992.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1792-1794)cCc>cAc		leucine rich repeat and Ig domain containing 2							138.0	123.0	128.0					9																	27948877		2203	4300	6503	SO:0001583	missense	158038					integral to membrane		g.chr9:27948877G>T	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.1793C>A	9.37:g.27948877G>T	ENSP00000369328:p.Pro598His					LINGO2_ENST00000308675.3_Missense_Mutation_p.P598H	p.P598H	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)	6	2242	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	598					A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	ENST00000379992.2	37	c.1793C>A	CCDS6524.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.558690	0.65538	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	T;T	0.58358	0.34;0.34	6.07	6.07	0.98685	.	0.054630	0.85682	D	0.000000	T	0.65933	0.2739	L	0.55481	1.735	0.80722	D	1	D	0.64830	0.994	P	0.58928	0.848	T	0.60890	-0.7173	9	.	.	.	.	18.8245	0.92111	0.0:0.0:1.0:0.0	.	598	Q7L985	LIGO2_HUMAN	H	598	ENSP00000369328:P598H;ENSP00000310126:P598H	.	P	-	2	0	LINGO2	27938877	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.884000	0.98904	0.655000	0.94253	CCC		0.463	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570		27	70	1	0	1.32181e-22	1	1.4343e-22	27	70				
SVEP1	79987	broad.mit.edu	37	9	113208175	113208175	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr9:113208175T>C	ENST00000401783.2	-	26	4741	c.4405A>G	c.(4405-4407)Atc>Gtc	p.I1469V	SVEP1_ENST00000302728.8_Missense_Mutation_p.I1469V|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.I1446V	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1469	Pentaxin.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GCATAGGAGATTGGTGTTCCA	0.453																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(4405-4407)Atc>Gtc		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							175.0	168.0	170.0					9																	113208175		1964	4168	6132	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113208175T>C	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.4405A>G	9.37:g.113208175T>C	ENSP00000384917:p.Ile1469Val					SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.I1469V|SVEP1_ENST00000374469.1_Missense_Mutation_p.I1446V	p.I1469V	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			26	4741	-			1469			Pentaxin.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.4405A>G	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	T	11.94	1.788469	0.31685	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728	T;T;T	0.73897	3.31;3.31;-0.79	5.5	5.5	0.81552	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.099685	0.64402	D	0.000002	T	0.57154	0.2034	N	0.13272	0.32	0.29260	N	0.871389	B;B	0.16166	0.011;0.016	B;B	0.23574	0.047;0.017	T	0.50759	-0.8790	10	0.22109	T	0.4	.	11.0294	0.47763	0.0:0.0728:0.0:0.9272	.	1469;1469	E9PBN8;Q4LDE5	.;SVEP1_HUMAN	V	1469;1446;1469	ENSP00000384917:I1469V;ENSP00000363593:I1446V;ENSP00000304118:I1469V	ENSP00000304118:I1469V	I	-	1	0	SVEP1	112247996	0.998000	0.40836	0.991000	0.47740	0.723000	0.41478	2.983000	0.49345	2.219000	0.72066	0.533000	0.62120	ATC		0.453	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				18	49	0	0	0	1	0	18	49				
ESPNP	284729	broad.mit.edu	37	1	17017774	17017774	+	RNA	SNP	G	G	A			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr1:17017774G>A	ENST00000492551.1	-	0	1953					NR_026567.1				espin pseudogene																		CTGGCCAGCCGGGCCTCCTCC	0.662																																						ENST00000492551.1																			0																																																			0							g.chr1:17017774G>A	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17017774G>A								NR_026567.1						0	1953	-									RNA	SNP	ENST00000492551.1	37																																																																																						0.662	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			3	7	0	0	0	1	0	3	7				
SH2D1B	117157	broad.mit.edu	37	1	162381782	162381782	+	Missense_Mutation	SNP	G	G	A	rs189321084		TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr1:162381782G>A	ENST00000367929.2	-	1	134	c.25C>T	c.(25-27)Cgt>Tgt	p.R9C	SH2D1B_ENST00000359567.3_Missense_Mutation_p.R9C|SH2D1B_ENST00000493550.1_5'UTR	NM_053282.4	NP_444512.2	O14796	SH21B_HUMAN	SH2 domain containing 1B	9	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				leukocyte activation involved in immune response (GO:0002366)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of innate immune response (GO:0045089)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated immunity (GO:0002717)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of natural killer cell activation (GO:0032814)	intracellular (GO:0005622)	protein binding, bridging (GO:0030674)			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TTGGTCAGACGTCCATGGTAG	0.527													G|||	1	0.000199681	0.0008	0.0	5008	,	,		22619	0.0		0.0	False		,,,				2504	0.0					ENST00000367929.2																			0				kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	7						c.(25-27)Cgt>Tgt		SH2 domain containing 1B		G	CYS/ARG	0,4406		0,0,2203	144.0	128.0	133.0		25	3.5	1.0	1		133	1,8599		0,1,4299	no	missense	SH2D1B	NM_053282.4	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	9/133	162381782	1,13005	2203	4300	6503	SO:0001583	missense	117157							g.chr1:162381782G>A	AF484964	CCDS30928.1	1q23.3	2013-02-14			ENSG00000198574	ENSG00000198574		"""SH2 domain containing"""	30416	protein-coding gene	gene with protein product		608510				9000139, 11689425	Standard	NM_053282		Approved	EAT2	uc001gbz.1	O14796	OTTHUMG00000031377	ENST00000367929.2:c.25C>T	1.37:g.162381782G>A	ENSP00000356906:p.Arg9Cys					SH2D1B_ENST00000493550.1_5'UTR|SH2D1B_ENST00000359567.3_Missense_Mutation_p.R9C	p.R9C	NM_053282.4	NP_444512.2	O14796	SH21B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.126)		1	134	-	all_hematologic(112;0.115)		9			SH2.		B2RBN6|Q5T0L1|Q8NI18|Q969K9	Missense_Mutation	SNP	ENST00000367929.2	37	c.25C>T	CCDS30928.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	9.323	1.058644	0.19987	0.0	1.16E-4	ENSG00000198574	ENST00000367929;ENST00000359567	D;D	0.88896	-2.44;-2.44	5.36	3.49	0.39957	SH2 motif (5);	0.592407	0.17321	N	0.178514	T	0.65354	0.2683	N	0.17564	0.495	0.24915	N	0.992018	B;B	0.09022	0.0;0.002	B;B	0.10450	0.0;0.005	T	0.53063	-0.8491	9	0.38643	T	0.18	-0.017	7.6096	0.28122	0.1917:0.0:0.8083:0.0	.	9;9	O14796-2;O14796	.;SH21B_HUMAN	C	9	ENSP00000356906:R9C;ENSP00000352571:R9C	ENSP00000352571:R9C	R	-	1	0	SH2D1B	160648406	0.629000	0.27146	0.979000	0.43373	0.057000	0.15508	0.684000	0.25364	0.806000	0.34183	-0.123000	0.14984	CGT		0.527	SH2D1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076794.1	NM_053282		18	48	0	0	0	1	0	18	48				
FOXP2	93986	broad.mit.edu	37	7	114270000	114270000	+	Silent	SNP	G	G	A			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr7:114270000G>A	ENST00000393494.2	+	5	816	c.537G>A	c.(535-537)caG>caA	p.Q179Q	FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000393500.3_Silent_p.Q104Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q			O15409	FOXP2_HUMAN	forkhead box P2	179	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|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 negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q204Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcaacaacagcagcagcagc	0.498																																						ENST00000393500.3																			1	Substitution - coding silent(1)	p.Q204Q(1)	lung(1)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(310-312)caG>caA		forkhead box P2							41.0	38.0	39.0					7																	114270000		2199	4282	6481	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114270000G>A	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.537G>A	7.37:g.114270000G>A						FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|AC020606.1_ENST00000580664.1_RNA	p.Q104Q			O15409	FOXP2_HUMAN			11	1132	+			179			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.312G>A	CCDS5760.1																																																																																				0.498	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		4	49	0	0	0	1	0	4	49				
TTN	7273	broad.mit.edu	37	2	179539084	179539086	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr2:179539084_179539086delTTC	ENST00000591111.1	-	147	33765_33767	c.33541_33543delGAA	c.(33541-33543)gaadel	p.E11181del	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000589042.1_In_Frame_Del_p.E11555del|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_In_Frame_Del_p.E10254del			Q8WZ42	TITIN_HUMAN	titin	11181	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCTAGGTGGTTCTTCTGGGATT	0.34																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(34663-34665)del		titin			,,,	0,3506		0,0,1753					,,,	3.2	1.0			81	5,7825		0,5,3910	no	intron,intron,coding,intron	TTN	NM_133437.3,NM_133432.3,NM_133378.4,NM_003319.4	,,,	0,5,5663	A1A1,A1R,RR		0.0639,0.0,0.0441	,,,	,,,		5,11331				SO:0001651	inframe_deletion	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179539084_179539086delTTC	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.33541_33543delGAA	2.37:g.179539087_179539089delTTC	ENSP00000465570:p.Glu11181del					TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_In_Frame_Del_p.E11181del|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_In_Frame_Del_p.E10254del|TTN_ENST00000342175.6_Intron	p.E11555del	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		151	34887_34889	-			11318			Glu-rich.|Pro-rich.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	In_Frame_Del	DEL	ENST00000591111.1	37	c.34663_34665delGAA																																																																																					0.340	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	2						5	2	---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149512845	149512846	+	RNA	INS	-	-	AGGTGGTC	rs377097685|rs146626309	byFrequency	TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr7:149512845_149512846insAGGTGGTC	ENST00000378016.2	+	0	10852_10853							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGAACCCGGAGAGGTGGTCACT	0.653														123	0.0245607	0.087	0.0101	5008	,	,		13791	0.0		0.0	False		,,,				2504	0.001					ENST00000378016.2																			0													SCO-spondin				258,3344		25,208,1568						4.3	0.6		dbSNP_134	26	5,7831		0,5,3913	no	frameshift	SSPO	NM_198455.2		25,213,5481	A1A1,A1R,RR		0.0638,7.1627,2.2994				263,11175						23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149512845_149512846insAGGTGGTC	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149512846_149512853dupAGGTGGTC										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	10852_10853	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	INS	ENST00000378016.2	37																																																																																						0.653	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				3	5						3	5	---	---	---	---
MYBL1	4603	broad.mit.edu	37	8	67488452	67488453	+	Frame_Shift_Ins	INS	-	-	T			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr8:67488452_67488453insT	ENST00000522677.3	-	10	1669_1670	c.1259_1260insA	c.(1258-1260)aacfs	p.N420fs	MYBL1_ENST00000517885.1_Intron|MYBL1_ENST00000524176.2_Frame_Shift_Ins_p.N420fs	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	420	Negative regulatory domain. {ECO:0000250}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|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)			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			CATTACAAGTGTTTTTTTTCCC	0.406																																						ENST00000522677.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25						c.(1258-1260)aacfs		v-myb avian myeloblastosis viral oncogene homolog-like 1																																				SO:0001589	frameshift_variant	4603				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr8:67488452_67488453insT	X13294	CCDS47867.1, CCDS55241.1	8q22	2013-07-09	2013-07-09		ENSG00000185697	ENSG00000185697			7547	protein-coding gene	gene with protein product		159405					Standard	XM_005251251		Approved	AMYB, A-myb	uc003xwj.3	P10243	OTTHUMG00000164559	ENST00000522677.3:c.1260dupA	8.37:g.67488460_67488460dupT	ENSP00000429633:p.Asn420fs					MYBL1_ENST00000524176.2_Frame_Shift_Ins_p.N420fs|MYBL1_ENST00000517885.1_Intron	p.N420fs	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)		10	1669_1670	-			420			Negative regulatory domain (By similarity).		E7EW29|Q495F9	Frame_Shift_Ins	INS	ENST00000522677.3	37	c.1259_1260insA	CCDS47867.1																																																																																				0.406	MYBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379221.3	XM_034274		8	223						8	223	---	---	---	---
HDAC10	83933	broad.mit.edu	37	22	50684778	50684779	+	Frame_Shift_Ins	INS	-	-	C			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr22:50684778_50684779insC	ENST00000216271.5	-	17	1950_1951	c.1598_1599insG	c.(1597-1599)ggcfs	p.G533fs	TUBGCP6_ENST00000439308.2_5'Flank|HDAC10_ENST00000448072.1_Frame_Shift_Ins_p.G483fs|MAPK12_ENST00000497036.1_5'UTR|TUBGCP6_ENST00000248846.5_5'Flank|HDAC10_ENST00000498366.1_5'UTR|HDAC10_ENST00000349505.4_Frame_Shift_Ins_p.G513fs	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN	histone deacetylase 10	533					chromatin modification (GO:0016568)|histone deacetylation (GO:0016575)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|oligodendrocyte development (GO:0014003)|protein deacetylation (GO:0006476)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCGCCTCCTTGCCCCTGATGTT	0.614																																						ENST00000216271.5																			0				endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8						c.(1597-1599)gaafs		histone deacetylase 10																																				SO:0001589	frameshift_variant	83933				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)	g.chr22:50684778_50684779insC	AF393962	CCDS14088.1, CCDS54545.1	22q13.31	2008-06-10			ENSG00000100429	ENSG00000100429			18128	protein-coding gene	gene with protein product		608544				11677242, 11726666	Standard	NM_032019		Approved	DKFZP761B039	uc003bkg.3	Q969S8	OTTHUMG00000044647	ENST00000216271.5:c.1599dupG	22.37:g.50684782_50684782dupC	ENSP00000216271:p.Gly533fs					HDAC10_ENST00000349505.4_Frame_Shift_Ins_p.E513fs|HDAC10_ENST00000448072.1_Frame_Shift_Ins_p.E483fs|HDAC10_ENST00000498366.1_5'UTR|MAPK12_ENST00000497036.1_5'UTR	p.E533fs	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	17	1950_1951	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	533					Q08AP4|Q6STF9|Q96P77|Q96P78|Q9H028|Q9UGX1|Q9UGX2	Frame_Shift_Ins	INS	ENST00000216271.5	37	c.1598_1599insG	CCDS14088.1																																																																																				0.614	HDAC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104141.4	NM_032019		19	69						19	69	---	---	---	---
