#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
FCRLA	84824	broad.mit.edu	37	1	161683034	161683034	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr1:161683034C>A	ENST00000236938.6	+	5	1237	c.995C>A	c.(994-996)cCt>cAt	p.P332H	FCRLA_ENST00000309691.6_Missense_Mutation_p.P226H|FCRLA_ENST00000349527.4_Missense_Mutation_p.P220H|FCRLA_ENST00000367957.2_Missense_Mutation_p.P192H|FCRLA_ENST00000367959.2_Missense_Mutation_p.P338H|FCRLA_ENST00000367949.2_Missense_Mutation_p.P148H|FCRLA_ENST00000540521.1_Missense_Mutation_p.P198H|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000367950.1_Missense_Mutation_p.P108H|FCRLA_ENST00000294796.4_Missense_Mutation_p.P181H|FCRLA_ENST00000546024.1_Missense_Mutation_p.P243H|FCRLA_ENST00000367953.3_Missense_Mutation_p.P321H|FCRLA_ENST00000350710.3_Missense_Mutation_p.P97H|FCRLA_ENST00000540926.1_Missense_Mutation_p.P321H	NM_032738.3	NP_116127.3	Q7L513	FCRLA_HUMAN	Fc receptor-like A	315					cell differentiation (GO:0030154)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			ATGCCAGATCCTCATCTGTAT	0.572																																						ENST00000540926.1																			0				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34						c.(961-963)cCt>cAt		Fc receptor-like A							72.0	71.0	72.0					1																	161683034		2203	4300	6503	SO:0001583	missense	84824				cell differentiation	cytoplasm|extracellular region		g.chr1:161683034C>A	AF531423	CCDS30926.1, CCDS53415.1, CCDS53416.1, CCDS53417.1, CCDS53418.1, CCDS53419.1, CCDS53420.1	1q23.3	2014-01-28	2006-09-26	2006-09-26	ENSG00000132185	ENSG00000132185		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18504	protein-coding gene	gene with protein product		606891	"""Fc receptor-like and mucin-like 1"""	FCRLM1		11754007	Standard	NM_001184866		Approved	MGC4595, FCRLc2, FCRLb, FCRLc1, FCRLd, FCRLe, FCRL, FCRLa, FREB, FCRLX	uc001gbe.3	Q7L513	OTTHUMG00000034537	ENST00000236938.6:c.995C>A	1.37:g.161683034C>A	ENSP00000236938:p.Pro332His					FCRLA_ENST00000367950.1_Missense_Mutation_p.P108H|FCRLA_ENST00000546024.1_Missense_Mutation_p.P243H|FCRLA_ENST00000540521.1_Missense_Mutation_p.P198H|FCRLA_ENST00000367949.2_Missense_Mutation_p.P148H|FCRLA_ENST00000367953.3_Missense_Mutation_p.P321H|FCRLA_ENST00000367959.2_Missense_Mutation_p.P338H|FCRLA_ENST00000294796.4_Missense_Mutation_p.P181H|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000349527.4_Missense_Mutation_p.P220H|FCRLA_ENST00000309691.6_Missense_Mutation_p.P226H|FCRLA_ENST00000236938.6_Missense_Mutation_p.P332H|FCRLA_ENST00000367957.2_Missense_Mutation_p.P192H|FCRLA_ENST00000350710.3_Missense_Mutation_p.P97H	p.P321H			Q7L513	FCRLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00301)		6	1255	+	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		315					A0N0M1|A6NC03|A6NL20|F5H720|F8W743|G3V1J2|Q5VXA1|Q5VXA2|Q5VXA3|Q5VXA4|Q5VXB0|Q5VXB1|Q8NEW4|Q8WXH3|Q96PC6|Q96PJ0|Q96PJ1|Q96PJ2|Q96PJ4|Q9BR57	Missense_Mutation	SNP	ENST00000236938.6	37	c.962C>A	CCDS30926.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.198378	0.38806	.	.	ENSG00000132185	ENST00000236938;ENST00000367959;ENST00000546024;ENST00000540521;ENST00000367949;ENST00000350710;ENST00000540926;ENST00000367957;ENST00000349527;ENST00000309691;ENST00000294796;ENST00000367953;ENST00000367950	T;T;T;T;T;T;T;T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02	5.23	4.32	0.51571	.	0.000000	0.56097	D	0.000035	T	0.43875	0.1267	L	0.54323	1.7	0.26723	N	0.970734	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.975;0.999;0.999;0.981;0.999;0.998;0.999	T	0.35151	-0.9800	10	0.87932	D	0	.	9.5791	0.39477	0.0:0.9064:0.0:0.0936	.	97;148;198;192;243;338;332	F8W743;A6NL20;F5H720;Q5VXB1;G3V1J2;A6NC03;Q7L513-9	.;.;.;.;.;.;.	H	332;338;243;198;148;97;321;192;220;226;181;321;108	ENSP00000236938:P332H;ENSP00000356936:P338H;ENSP00000439838:P243H;ENSP00000442870:P198H;ENSP00000356926:P148H;ENSP00000344808:P97H;ENSP00000446380:P321H;ENSP00000356934:P192H;ENSP00000294798:P220H;ENSP00000309596:P226H;ENSP00000294796:P181H;ENSP00000356930:P321H;ENSP00000356927:P108H	ENSP00000236938:P332H	P	+	2	0	FCRLA	159949658	0.552000	0.26505	0.291000	0.24904	0.227000	0.25037	3.235000	0.51328	1.444000	0.47605	-0.136000	0.14681	CCT		0.572	FCRLA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083574.1	NM_032738		3	53	1	0	0.00024832	0.150653	0.000276538	3	53				
GPR128	84873	broad.mit.edu	37	3	100368589	100368589	+	Silent	SNP	C	C	T	rs373912284		TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr3:100368589C>T	ENST00000273352.3	+	11	1585	c.1317C>T	c.(1315-1317)aaC>aaT	p.N439N	GPR128_ENST00000475887.1_Silent_p.N144N	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	439					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						TATTATCCAACGTTGGATGTG	0.373																																					Pancreas(87;185 1975 7223 18722)	ENST00000273352.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						c.(1315-1317)aaC>aaT		G protein-coupled receptor 128		C		0,4406		0,0,2203	137.0	129.0	132.0		1317	-11.0	0.0	3		132	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GPR128	NM_032787.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		439/798	100368589	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100368589C>T	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.1317C>T	3.37:g.100368589C>T						GPR128_ENST00000475887.1_Silent_p.N144N	p.N439N	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN			11	1585	+			439					Q14D94|Q86SQ2	Silent	SNP	ENST00000273352.3	37	c.1317C>T	CCDS2938.1																																																																																				0.373	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			5	110	0	0	0	0.248553	0	5	110				
SIRT1	23411	broad.mit.edu	37	10	69676124	69676124	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr10:69676124G>A	ENST00000212015.6	+	9	2071	c.2018G>A	c.(2017-2019)aGt>aAt	p.S673N	SIRT1_ENST00000403579.1_Missense_Mutation_p.S370N|SIRT1_ENST00000406900.1_Missense_Mutation_p.S370N|SIRT1_ENST00000432464.1_Missense_Mutation_p.S378N	NM_012238.4	NP_036370.2	Q96EB6	SIR1_HUMAN	sirtuin 1	673					angiogenesis (GO:0001525)|cell aging (GO:0007569)|cellular glucose homeostasis (GO:0001678)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to starvation (GO:0009267)|cellular response to tumor necrosis factor (GO:0071356)|cellular triglyceride homeostasis (GO:0035356)|cholesterol homeostasis (GO:0042632)|chromatin organization (GO:0006325)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|establishment of chromatin silencing (GO:0006343)|fatty acid homeostasis (GO:0055089)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of chromatin silencing (GO:0006344)|methylation-dependent chromatin silencing (GO:0006346)|muscle organ development (GO:0007517)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of cell growth (GO:0030308)|negative regulation of cellular response to testosterone stimulus (GO:2000655)|negative regulation of cellular senescence (GO:2000773)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of helicase activity (GO:0051097)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of neuron death (GO:1901215)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostaglandin biosynthetic process (GO:0031393)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|ovulation from ovarian follicle (GO:0001542)|peptidyl-lysine acetylation (GO:0018394)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular senescence (GO:2000774)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of chromatin silencing (GO:0031937)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA repair (GO:0045739)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of macroautophagy (GO:0016239)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deacetylation (GO:0006476)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cell proliferation (GO:0042127)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle (GO:0007346)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of smooth muscle cell apoptotic process (GO:0034391)|response to hydrogen peroxide (GO:0042542)|response to insulin (GO:0032868)|response to oxidative stress (GO:0006979)|rRNA processing (GO:0006364)|single strand break repair (GO:0000012)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|triglyceride mobilization (GO:0006642)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|rDNA heterochromatin (GO:0033553)	bHLH transcription factor binding (GO:0043425)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase activity (GO:0004407)|HLH domain binding (GO:0043398)|identical protein binding (GO:0042802)|keratin filament binding (GO:1990254)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent protein deacetylase activity (GO:0034979)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						TCTTGTGGCAGTAACAGTGAT	0.413																																						ENST00000212015.6																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						c.(2017-2019)aGt>aAt		sirtuin 1							126.0	115.0	119.0					10																	69676124		2203	4300	6503	SO:0001583	missense	23411				apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding	g.chr10:69676124G>A	AF083106	CCDS7273.1, CCDS44412.1	10q21	2010-06-25	2010-06-25		ENSG00000096717	ENSG00000096717			14929	protein-coding gene	gene with protein product		604479	"""sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 1"", ""sirtuin (silent mating type information regulation 2 homolog) 1 (S. cerevisiae)"""			10381378	Standard	NM_012238		Approved	SIR2L1	uc001jnd.3	Q96EB6	OTTHUMG00000018340	ENST00000212015.6:c.2018G>A	10.37:g.69676124G>A	ENSP00000212015:p.Ser673Asn					SIRT1_ENST00000432464.1_Missense_Mutation_p.S378N|SIRT1_ENST00000406900.1_Missense_Mutation_p.S370N|SIRT1_ENST00000403579.1_Missense_Mutation_p.S370N	p.S673N	NM_012238.4	NP_036370.2	Q96EB6	SIRT1_HUMAN			9	2071	+			673					Q2XNF6|Q5JVQ0|Q9GZR9|Q9Y6F0	Missense_Mutation	SNP	ENST00000212015.6	37	c.2018G>A	CCDS7273.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.003478	0.93287	.	.	ENSG00000096717	ENST00000212015;ENST00000432464;ENST00000406900;ENST00000403579	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.98	5.98	0.97165	.	0.048663	0.85682	D	0.000000	T	0.55625	0.1932	L	0.61218	1.895	0.58432	D	0.999999	D;D	0.60575	0.976;0.988	P;P	0.54815	0.631;0.761	T	0.56878	-0.7906	10	0.72032	D	0.01	-16.2493	15.544	0.76081	0.0:0.1375:0.8625:0.0	.	370;673	B0QZ35;Q96EB6	.;SIRT1_HUMAN	N	673;378;370;370	ENSP00000212015:S673N;ENSP00000409208:S378N;ENSP00000384508:S370N;ENSP00000384063:S370N	ENSP00000212015:S673N	S	+	2	0	SIRT1	69346130	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.065000	0.76727	2.835000	0.97688	0.650000	0.86243	AGT		0.413	SIRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048296.1			3	87	0	0	0	0.115264	0	3	87				
AGPAT3	56894	broad.mit.edu	37	21	45379682	45379682	+	Silent	SNP	G	G	A	rs191570129		TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr21:45379682G>A	ENST00000398063.2	+	2	612	c.120G>A	c.(118-120)ccG>ccA	p.P40P	AGPAT3_ENST00000398061.1_Silent_p.P40P|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000398058.1_Silent_p.P40P|AGPAT3_ENST00000291572.8_Silent_p.P40P|AGPAT3_ENST00000546158.1_Silent_p.P40P|AGPAT3_ENST00000327505.2_Silent_p.P40P	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	40					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		CGCTCTGGCCGGTCAGCAAGC	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		16272	0.0		0.001	False		,,,				2504	0.0				Pancreas(60;623 1650 5574 52796)	ENST00000398063.2																			0				large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11						c.(118-120)ccG>ccA		1-acylglycerol-3-phosphate O-acyltransferase 3							69.0	51.0	58.0					21																	45379682		2203	4300	6503	SO:0001819	synonymous_variant	56894				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr21:45379682G>A	AF156774	CCDS13703.1	21q22.3	2013-02-05			ENSG00000160216	ENSG00000160216	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	326	protein-coding gene	gene with protein product		614794					Standard	XM_005261159		Approved	LPAAT-gamma	uc002zdw.3	Q9NRZ7	OTTHUMG00000086892	ENST00000398063.2:c.120G>A	21.37:g.45379682G>A						AGPAT3_ENST00000398061.1_Silent_p.P40P|AGPAT3_ENST00000291572.8_Silent_p.P40P|AGPAT3_ENST00000546158.1_Silent_p.P40P|AGPAT3_ENST00000327505.2_Silent_p.P40P|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000398058.1_Silent_p.P40P	p.P40P	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN		STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)	2	612	+			40					D3DSL2|Q3ZCU2|Q6UWP6|Q6ZUC6|Q8N3Q7|Q9NRZ6	Silent	SNP	ENST00000398063.2	37	c.120G>A	CCDS13703.1																																																																																				0.647	AGPAT3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195722.1	NM_020132		4	59	0	0	0	0.150653	0	4	59				
SLC15A1	6564	broad.mit.edu	37	13	99354751	99354751	+	Silent	SNP	T	T	C	rs550700409	byFrequency	TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr13:99354751T>C	ENST00000376503.5	-	18	1504	c.1449A>G	c.(1447-1449)aaA>aaG	p.K483K		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	483					digestion (GO:0007586)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	peptide:proton symporter activity (GO:0015333)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Captopril(DB01197)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftizoxime(DB01332)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Enalapril(DB00584)|Fluvastatin(DB01095)|Fosinopril(DB00492)|Glyburide(DB01016)|L-DOPA(DB01235)|Lisinopril(DB00722)|Methyldopa(DB00968)|Midodrine(DB00211)|Moexipril(DB00691)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	CATTTTCCCCTTTTTCTGGCT	0.284													T|||	6	0.00119808	0.0	0.0	5008	,	,		18498	0.0		0.0	False		,,,				2504	0.0061					ENST00000376503.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1447-1449)aaA>aaG		solute carrier family 15 (oligopeptide transporter), member 1	Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)						61.0	68.0	65.0					13																	99354751		2201	4296	6497	SO:0001819	synonymous_variant	6564				digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity	g.chr13:99354751T>C	U13173	CCDS9489.1	13q32.3	2013-05-22			ENSG00000088386	ENSG00000088386		"""Solute carriers"""	10920	protein-coding gene	gene with protein product	"""peptide transporter HPEPT1"", ""bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1)"", ""solute carrier family 15 oligopeptide transporter member 1"""	600544				7896779	Standard	NM_005073		Approved	PEPT1, HPECT1, HPEPT1	uc001vno.3	P46059	OTTHUMG00000017255	ENST00000376503.5:c.1449A>G	13.37:g.99354751T>C							p.K483K	NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN			18	1504	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		483					Q5VW82	Silent	SNP	ENST00000376503.5	37	c.1449A>G	CCDS9489.1																																																																																				0.284	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045560.3	NM_005073		3	152	0	0	0	0.184627	0	3	152				
SUMO3	6612	broad.mit.edu	37	21	46233855	46233855	+	Silent	SNP	C	C	T			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr21:46233855C>T	ENST00000411651.2	-	2	298	c.186G>A	c.(184-186)gtG>gtA	p.V62V	SUMO3_ENST00000332859.6_Intron|SUMO3_ENST00000397893.3_Intron|SUMO3_ENST00000479153.1_Intron|SUMO3_ENST00000397898.3_Intron					small ubiquitin-like modifier 3											prostate(1)	1				Colorectal(79;0.058)		CCAGTGCGCACACGGGGAGGC	0.652																																						ENST00000411651.2																			0				prostate(1)	1						c.(184-186)gtG>gtA		small ubiquitin-like modifier 3							65.0	53.0	57.0					21																	46233855		2203	4300	6503	SO:0001819	synonymous_variant	6612				protein sumoylation	cytoplasm|kinetochore	protein binding	g.chr21:46233855C>T		CCDS33587.1, CCDS68220.1	21q22.3	2013-06-05	2013-06-05	2004-05-19	ENSG00000184900	ENSG00000184900			11124	protein-coding gene	gene with protein product		602231	"""SMT3 (suppressor of mif two 3, yeast) homolog 1"", ""SMT3 suppressor of mif two 3 homolog 3 (yeast)"", ""SMT3 suppressor of mif two 3 homolog 3 (S. cerevisiae)"""	SMT3H1		9119407	Standard	NM_006936		Approved	SMT3A	uc002zfz.1	P55854	OTTHUMG00000090256	ENST00000411651.2:c.186G>A	21.37:g.46233855C>T						SUMO3_ENST00000332859.6_Intron|SUMO3_ENST00000397893.3_Intron|SUMO3_ENST00000479153.1_Intron|SUMO3_ENST00000397898.3_Intron	p.V62V			P55854	SUMO3_HUMAN		Colorectal(79;0.058)	2	298	-			50			Ubiquitin-like.			Silent	SNP	ENST00000411651.2	37	c.186G>A																																																																																					0.652	SUMO3-201	KNOWN	basic	protein_coding	protein_coding				3	33	0	0	0	0.115264	0	3	33				
CCDC132	55610	broad.mit.edu	37	7	92883177	92883177	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr7:92883177T>G	ENST00000305866.5	+	4	358	c.230T>G	c.(229-231)cTt>cGt	p.L77R	CCDC132_ENST00000251739.5_Missense_Mutation_p.L77R|CCDC132_ENST00000317751.6_5'UTR|CCDC132_ENST00000541136.1_5'UTR|CCDC132_ENST00000544910.1_Missense_Mutation_p.L47R|CCDC132_ENST00000535481.1_Intron	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	77						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			CTGTAGAAGCTTCCACCTGTT	0.338																																						ENST00000544910.1																			0				endometrium(1)|large_intestine(2)|lung(5)	8						c.(139-141)cTt>cGt		coiled-coil domain containing 132							35.0	37.0	37.0					7																	92883177		2202	4299	6501	SO:0001583	missense	55610							g.chr7:92883177T>G	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.230T>G	7.37:g.92883177T>G	ENSP00000307666:p.Leu77Arg					CCDC132_ENST00000305866.5_Missense_Mutation_p.L77R|CCDC132_ENST00000535481.1_Intron|CCDC132_ENST00000317751.6_5'UTR|CCDC132_ENST00000541136.1_5'UTR|CCDC132_ENST00000251739.5_Missense_Mutation_p.L77R	p.L47R	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	360	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		77					B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	ENST00000305866.5	37	c.140T>G	CCDS43617.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.174231	0.78452	.	.	ENSG00000004766	ENST00000251739;ENST00000305866;ENST00000544910;ENST00000458530	.	.	.	4.46	4.46	0.54185	Vacuolar protein sorting-associated protein 54 (1);	0.000000	0.85682	D	0.000000	T	0.75882	0.3910	M	0.61703	1.905	0.80722	D	1	D;D;D	0.89917	0.998;0.999;1.0	D;D;D	0.87578	0.974;0.998;0.994	T	0.79127	-0.1931	9	0.87932	D	0	-9.4098	14.2161	0.65795	0.0:0.0:0.0:1.0	.	47;77;77	F5H5U7;Q96JG6;Q96JG6-2	.;CC132_HUMAN;.	R	77;77;47;76	.	ENSP00000251739:L77R	L	+	2	0	CCDC132	92721113	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	6.952000	0.75989	2.014000	0.59158	0.528000	0.53228	CTT		0.338	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		10	12	0	0	0	0.435327	0	10	12				
CP	1356	broad.mit.edu	37	3	148924112	148924112	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr3:148924112A>G	ENST00000264613.6	-	6	1313	c.1051T>C	c.(1051-1053)Ttt>Ctt	p.F351L		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	351	F5/8 type A 1.|Plastocyanin-like 2.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	ACCTGGAAAAAGGCTTGCAAA	0.433																																						ENST00000264613.6																			0				breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1051-1053)Ttt>Ctt		ceruloplasmin (ferroxidase)	Drotrecogin alfa(DB00055)						110.0	109.0	109.0					3																	148924112		2203	4300	6503	SO:0001583	missense	1356				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	g.chr3:148924112A>G	M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.1051T>C	3.37:g.148924112A>G	ENSP00000264613:p.Phe351Leu						p.F351L	NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		6	1313	-		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	351			F5/8 type A 1.|Plastocyanin-like 2.		Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	ENST00000264613.6	37	c.1051T>C	CCDS3141.1	.	.	.	.	.	.	.	.	.	.	A	6.550	0.469792	0.12461	.	.	ENSG00000047457	ENST00000264613;ENST00000494544	D;D	0.82081	-1.57;-1.57	5.81	5.81	0.92471	Cupredoxin (2);Multicopper oxidase, type 1 (1);	0.228465	0.46758	D	0.000267	T	0.63141	0.2486	N	0.12502	0.225	0.41867	D	0.990256	B;B;B;B	0.24258	0.045;0.045;0.045;0.1	B;B;B;B	0.26864	0.074;0.05;0.074;0.057	T	0.58858	-0.7562	10	0.07482	T	0.82	-28.9754	5.0512	0.14508	0.7516:0.0:0.0869:0.1615	.	351;351;351;351	A5PL27;A8K5A4;P00450;Q1L857	.;.;CERU_HUMAN;.	L	351;134	ENSP00000264613:F351L;ENSP00000420545:F134L	ENSP00000264613:F351L	F	-	1	0	CP	150406802	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.782000	0.55401	2.224000	0.72417	0.533000	0.62120	TTT		0.433	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096		3	140	0	0	0	0.184627	0	3	140				
SNCG	6623	broad.mit.edu	37	10	88718535	88718535	+	Silent	SNP	G	G	A			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr10:88718535G>A	ENST00000372017.3	+	1	123	c.81G>A	c.(79-81)acG>acA	p.T27T	SNCG_ENST00000348795.4_Silent_p.T27T|MMRN2_ENST00000372027.5_5'Flank	NM_003087.2	NP_003078.2	O76070	SYUG_HUMAN	synuclein, gamma (breast cancer-specific protein 1)	27	4 X 11 AA tandem repeats of [EGSA]-K-T-K- [EQ]-[GQ]-V-X(4).				adult locomotory behavior (GO:0008344)|aggressive behavior (GO:0002118)|cellular response to hydrostatic pressure (GO:0071464)|protein secretion (GO:0009306)|regulation of dopamine secretion (GO:0014059)|regulation of neurotransmitter secretion (GO:0046928)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				endometrium(1)|skin(1)	2						AGGGGGTGACGGAAGCAGCTG	0.597																																						ENST00000372017.3																			0				endometrium(1)|skin(1)	2						c.(79-81)acG>acA		synuclein, gamma (breast cancer-specific protein 1)							117.0	108.0	111.0					10																	88718535		2203	4300	6503	SO:0001819	synonymous_variant	6623					microtubule organizing center|perinuclear region of cytoplasm|spindle	protein binding	g.chr10:88718535G>A	AF044311	CCDS7380.1	10q23.2-q23.3	2006-06-28			ENSG00000173267	ENSG00000173267			11141	protein-coding gene	gene with protein product	"""synoretin"""	602998				9044857, 9700196	Standard	NM_003087		Approved	BCSG1, SR, persyn	uc001keb.2	O76070	OTTHUMG00000018656	ENST00000372017.3:c.81G>A	10.37:g.88718535G>A						SNCG_ENST00000348795.4_Silent_p.T27T	p.T27T	NM_003087.2	NP_003078.2	O76070	SYUG_HUMAN			1	123	+			27			4 X 11 AA tandem repeats of [EGSA]-K-T-K- [EQ]-[GQ]-V-X(4).		O15104|Q96P61	Silent	SNP	ENST00000372017.3	37	c.81G>A	CCDS7380.1																																																																																				0.597	SNCG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049167.1			3	69	0	0	0	0.217242	0	3	69				
STK19	8859	broad.mit.edu	37	6	31946702	31946702	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr6:31946702A>G	ENST00000375333.2	+	4	643	c.590A>G	c.(589-591)gAg>gGg	p.E197G	STK19_ENST00000375331.2_Missense_Mutation_p.E197G|STK19_ENST00000463823.1_3'UTR	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	197				QGE -> GQR (in Ref. 6; AAA99716). {ECO:0000305}.	protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						GAGCAGGGGGAGATCAGAATC	0.532																																						ENST00000375331.2																			0				skin(5)|upper_aerodigestive_tract(2)	7						c.(589-591)gAg>gGg		serine/threonine kinase 19							78.0	75.0	76.0					6																	31946702		1510	2708	4218	SO:0001583	missense	8859					nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:31946702A>G	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.590A>G	6.37:g.31946702A>G	ENSP00000364482:p.Glu197Gly					STK19_ENST00000463823.1_3'UTR|STK19_ENST00000375333.2_Missense_Mutation_p.E197G	p.E197G	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN			4	756	+			197	QGE -> GQR (in Ref. 6; AAA99716).				A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Missense_Mutation	SNP	ENST00000375333.2	37	c.590A>G	CCDS4733.1	.	.	.	.	.	.	.	.	.	.	A	18.56	3.649733	0.67358	.	.	ENSG00000204344	ENST00000375331;ENST00000375333	T;T	0.31510	1.49;1.49	4.86	4.86	0.63082	.	0.117044	0.56097	D	0.000032	T	0.36524	0.0970	L	0.56769	1.78	0.52501	D	0.999957	D;D;D;D	0.89917	0.999;0.988;1.0;0.979	D;P;D;P	0.79784	0.986;0.871;0.993;0.828	T	0.10847	-1.0612	10	0.30078	T	0.28	-30.8272	10.7592	0.46256	1.0:0.0:0.0:0.0	.	154;197;197;154	C9IZ87;P49842-2;P49842;B7ZLI8	.;.;STK19_HUMAN;.	G	197	ENSP00000364480:E197G;ENSP00000364482:E197G	ENSP00000364480:E197G	E	+	2	0	STK19	32054681	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.720000	0.54933	2.043000	0.60533	0.482000	0.46254	GAG		0.532	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3			3	66	0	0	0	0.115264	0	3	66				
TPST2	8459	broad.mit.edu	37	22	26937482	26937482	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr22:26937482G>C	ENST00000338754.4	-	3	385	c.115C>G	c.(115-117)Cgg>Ggg	p.R39G	TPST2_ENST00000398110.2_Missense_Mutation_p.R39G|TPST2_ENST00000403880.1_Missense_Mutation_p.R39G	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	39					fusion of sperm to egg plasma membrane (GO:0007342)|peptidyl-tyrosine sulfation (GO:0006478)|prevention of polyspermy (GO:0060468)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)			central_nervous_system(1)|large_intestine(1)|lung(5)	7						CGGGGGCTCCGCAGGCCCGCC	0.701																																						ENST00000338754.4																			0				central_nervous_system(1)|large_intestine(1)|lung(5)	7						c.(115-117)Cgg>Ggg		tyrosylprotein sulfotransferase 2							21.0	23.0	23.0					22																	26937482		2172	4222	6394	SO:0001583	missense	8459				peptidyl-tyrosine sulfation	endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity	g.chr22:26937482G>C	AF049891	CCDS13839.1	22q12.1	2012-12-13			ENSG00000128294	ENSG00000128294	2.8.2.20	"""Sulfotransferases, membrane-bound"""	12021	protein-coding gene	gene with protein product	"""transport and golgi organization 13 homolog B (Drosophila)"""	603126				9736702, 9733778	Standard	NM_003595		Approved	TANGO13B	uc003acx.3	O60704	OTTHUMG00000150987	ENST00000338754.4:c.115C>G	22.37:g.26937482G>C	ENSP00000339813:p.Arg39Gly					TPST2_ENST00000398110.2_Missense_Mutation_p.R39G|TPST2_ENST00000403880.1_Missense_Mutation_p.R39G	p.R39G	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN			3	385	-			39					B3KQA7|Q6FI98|Q9H0V4	Missense_Mutation	SNP	ENST00000338754.4	37	c.115C>G	CCDS13839.1	.	.	.	.	.	.	.	.	.	.	G	0.662	-0.805398	0.02819	.	.	ENSG00000128294	ENST00000338754;ENST00000398110;ENST00000403880;ENST00000442495;ENST00000454778;ENST00000440953;ENST00000453117;ENST00000450022	.	.	.	4.95	0.365	0.16131	.	0.551593	0.16246	N	0.222930	T	0.16938	0.0407	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.08911	-1.0699	9	0.25751	T	0.34	-12.3132	1.0557	0.01590	0.1894:0.1261:0.3501:0.3344	.	39	O60704	TPST2_HUMAN	G	39	.	ENSP00000339813:R39G	R	-	1	2	TPST2	25267482	0.001000	0.12720	0.136000	0.22124	0.067000	0.16453	0.547000	0.23299	1.095000	0.41419	-0.192000	0.12808	CGG		0.701	TPST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320820.3	NM_003595		3	41	0	0	0	0.115264	0	3	41				
ELP5	23587	broad.mit.edu	37	17	7155834	7155834	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr17:7155834G>C	ENST00000396628.2	+	1	230	c.13G>C	c.(13-15)Gag>Cag	p.E5Q	ELP5_ENST00000574255.1_Missense_Mutation_p.E5Q|ELP5_ENST00000396627.2_Missense_Mutation_p.E5Q|CTDNEP1_ENST00000574322.1_5'Flank|ELP5_ENST00000356683.2_Missense_Mutation_p.E5Q|ELP5_ENST00000573657.1_Missense_Mutation_p.E5Q|CTDNEP1_ENST00000573600.1_5'Flank|CTDNEP1_ENST00000318988.6_5'Flank|RP1-4G17.5_ENST00000577138.1_Intron|ELP5_ENST00000354429.2_Missense_Mutation_p.E5Q|ELP5_ENST00000574993.1_Missense_Mutation_p.E5Q|CTDNEP1_ENST00000572043.1_5'Flank	NM_203414.1	NP_981959.1	Q8TE02	ELP5_HUMAN	elongator acetyltransferase complex subunit 5	5					chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Elongator holoenzyme complex (GO:0033588)|nucleus (GO:0005634)											GACGCCATCAGAGGGCGCCAG	0.627																																						ENST00000574993.1																			0											c.(13-15)Gag>Cag		elongator acetyltransferase complex subunit 5							55.0	48.0	50.0					17																	7155834		2203	4299	6502	SO:0001583	missense	23587							g.chr17:7155834G>C	BC002762	CCDS11094.1, CCDS11095.1	17p13.1	2012-08-14	2012-08-08	2012-08-08	ENSG00000170291	ENSG00000170291		"""Elongator acetyltransferase complex subunits"""	30617	protein-coding gene	gene with protein product	"""dermal papilla derived protein 6"", ""S-phase 2 protein"""	615019	"""chromosome 17 open reading frame 81"""	C17orf81		22854966	Standard	NM_203415		Approved	DERP6	uc002gfi.1	Q8TE02	OTTHUMG00000177974	ENST00000396628.2:c.13G>C	17.37:g.7155834G>C	ENSP00000379869:p.Glu5Gln					ELP5_ENST00000573657.1_Missense_Mutation_p.E5Q|ELP5_ENST00000354429.2_Missense_Mutation_p.E5Q|ELP5_ENST00000396627.2_Missense_Mutation_p.E5Q|RP1-4G17.5_ENST00000577138.1_Intron|ELP5_ENST00000356683.2_Missense_Mutation_p.E5Q|ELP5_ENST00000396628.2_Missense_Mutation_p.E5Q|ELP5_ENST00000574255.1_Missense_Mutation_p.E5Q	p.E5Q							1	230	+								A8K1M5|D3DTN9|Q659B6|Q7Z2T4|Q8TDR9|Q9BUB2|Q9Y2Q4	Missense_Mutation	SNP	ENST00000396628.2	37	c.13G>C	CCDS11094.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.986957	0.74589	.	.	ENSG00000170291	ENST00000354429;ENST00000396628;ENST00000396627;ENST00000356683	T;T;T;T	0.54279	1.32;1.32;1.32;0.58	3.85	-0.696	0.11287	.	1.764160	0.03150	N	0.167802	T	0.35828	0.0945	N	0.24115	0.695	0.22656	N	0.998887	B;B;B;B	0.21520	0.007;0.057;0.022;0.002	B;B;B;B	0.16289	0.015;0.01;0.006;0.002	T	0.25745	-1.0123	10	0.62326	D	0.03	2.3874	1.9456	0.03356	0.1063:0.1729:0.3669:0.3539	.	5;5;5;5	Q8TE02-2;Q8TE02-3;A8K1M5;Q8TE02	.;.;.;DERP6_HUMAN	Q	5	ENSP00000346412:E5Q;ENSP00000379869:E5Q;ENSP00000379868:E5Q;ENSP00000349111:E5Q	ENSP00000346412:E5Q	E	+	1	0	C17orf81	7096558	0.889000	0.30405	0.841000	0.33234	0.056000	0.15407	-0.063000	0.11655	-0.064000	0.13043	0.637000	0.83480	GAG		0.627	ELP5-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440111.1	NM_015362		3	31	0	0	0	0.150653	0	3	31				
CCDC15	80071	broad.mit.edu	37	11	124857495	124857495	+	Missense_Mutation	SNP	A	A	C	rs113451248	byFrequency	TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr11:124857495A>C	ENST00000344762.5	+	8	1632	c.1373A>C	c.(1372-1374)cAc>cCc	p.H458P	CCDC15_ENST00000529051.1_Missense_Mutation_p.H458P	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	458						centrosome (GO:0005813)				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		CATGTTCTCCACAAAGACCAA	0.418													C|||	6	0.00119808	0.0008	0.0	5008	,	,		19182	0.005		0.0	False		,,,				2504	0.0					ENST00000529051.1																			0				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23						c.(1372-1374)cAc>cCc		coiled-coil domain containing 15		C	PRO/HIS	5,3679		0,5,1837	109.0	105.0	106.0		1373	-1.4	0.0	11	dbSNP_132	106	0,8170		0,0,4085	yes	missense	CCDC15	NM_025004.2	77	0,5,5922	CC,CA,AA		0.0,0.1357,0.0422	benign	458/952	124857495	5,11849	1842	4085	5927	SO:0001583	missense	80071					centrosome		g.chr11:124857495A>C	BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.1373A>C	11.37:g.124857495A>C	ENSP00000341684:p.His458Pro					CCDC15_ENST00000344762.5_Missense_Mutation_p.H458P	p.H458P			Q0P6D6	CCD15_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)	8	1632	+	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	458					Q9H8U7	Missense_Mutation	SNP	ENST00000344762.5	37	c.1373A>C	CCDS44756.1	5	0.0022893772893772895	0	0.0	0	0.0	5	0.008741258741258742	0	0.0	C	0.007	-1.935858	0.00484	0.001357	0.0	ENSG00000149548	ENST00000529051;ENST00000344762	T;T	0.29142	1.6;1.58	3.32	-1.4	0.08968	.	.	.	.	.	T	0.04272	0.0118	N	0.00841	-1.15	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29882	-0.9997	9	0.02654	T	1	0.0636	3.381	0.07255	0.5595:0.2054:0.1382:0.0969	.	458	Q0P6D6	CCD15_HUMAN	P	458	ENSP00000435403:H458P;ENSP00000341684:H458P	ENSP00000341684:H458P	H	+	2	0	CCDC15	124362705	.	.	0.000000	0.03702	0.085000	0.17905	.	.	-0.576000	0.05974	-0.215000	0.12644	CAC		0.418	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	NM_025004		3	106	0	0	0	0.115264	0	3	106				
LHX1	3975	broad.mit.edu	37	17	35297661	35297661	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr17:35297661A>T	ENST00000254457.5	+	2	1656	c.245A>T	c.(244-246)aAa>aTa	p.K82I	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	82	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell signaling (GO:0007267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|cerebellum development (GO:0021549)|cervix development (GO:0060067)|comma-shaped body morphogenesis (GO:0072049)|dorsal/ventral pattern formation (GO:0009953)|ectoderm formation (GO:0001705)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|embryonic viscerocranium morphogenesis (GO:0048703)|endoderm formation (GO:0001706)|epithelium development (GO:0060429)|forebrain regionalization (GO:0021871)|gastrulation with mouth forming second (GO:0001702)|head development (GO:0060322)|horizontal cell localization (GO:0035852)|kidney development (GO:0001822)|lateral motor column neuron migration (GO:0097477)|mesonephric duct development (GO:0072177)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerulus development (GO:0072224)|metanephric part of ureteric bud development (GO:0035502)|metanephric renal vesicle morphogenesis (GO:0072283)|metanephric S-shaped body morphogenesis (GO:0072284)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct elongation (GO:0035849)|nephric duct morphogenesis (GO:0072178)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|oviduct development (GO:0060066)|oviduct epithelium development (GO:0035846)|paramesonephric duct development (GO:0061205)|pattern specification process (GO:0007389)|positive regulation of anterior head development (GO:2000744)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primitive streak formation (GO:0090009)|pronephros development (GO:0048793)|regulation of gene expression (GO:0010468)|renal vesicle morphogenesis (GO:0072077)|retina layer formation (GO:0010842)|S-shaped body morphogenesis (GO:0072050)|somite rostral/caudal axis specification (GO:0032525)|spinal cord association neuron differentiation (GO:0021527)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)|uterine epithelium development (GO:0035847)|uterus development (GO:0060065)|vagina development (GO:0060068)|ventral spinal cord development (GO:0021517)	nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				GCGCGGAGCAAAGTGTTTCAC	0.587																																						ENST00000254457.5																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						c.(244-246)aAa>aTa		LIM homeobox 1							70.0	58.0	62.0					17																	35297661		2203	4300	6503	SO:0001583	missense	3975				cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr17:35297661A>T	U14755	CCDS11316.1	17q12	2014-04-11			ENSG00000132130	ENSG00000273706		"""Homeoboxes / LIM class"""	6593	protein-coding gene	gene with protein product		601999				9212161	Standard	NM_005568		Approved	LIM-1, LIM1	uc002hnh.2	P48742	OTTHUMG00000188456	ENST00000254457.5:c.245A>T	17.37:g.35297661A>T	ENSP00000254457:p.Lys82Ile					RP11-445F12.2_ENST00000607336.1_RNA	p.K82I	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN			2	1656	+		Breast(25;0.00607)	82			LIM zinc-binding 2.		Q3MIW0	Missense_Mutation	SNP	ENST00000254457.5	37	c.245A>T	CCDS11316.1	.	.	.	.	.	.	.	.	.	.	A	16.06	3.016246	0.54468	.	.	ENSG00000132130	ENST00000254457	D	0.89617	-2.54	4.05	4.05	0.47172	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.95101	0.8413	M	0.93375	3.41	0.80722	D	1	D	0.67145	0.996	D	0.68621	0.959	D	0.94846	0.8009	10	0.33141	T	0.24	.	14.0485	0.64719	1.0:0.0:0.0:0.0	.	82	P48742	LHX1_HUMAN	I	82	ENSP00000254457:K82I	ENSP00000254457:K82I	K	+	2	0	LHX1	32371774	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.310000	0.78947	2.064000	0.61679	0.459000	0.35465	AAA		0.587	LHX1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256704.3	NM_005568		3	21	0	0	0	0.115264	0	3	21				
ATP1A2	477	broad.mit.edu	37	1	160098456	160098456	+	Silent	SNP	G	G	C			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr1:160098456G>C	ENST00000361216.3	+	9	1121	c.1032G>C	c.(1030-1032)ctG>ctC	p.L344L	ATP1A2_ENST00000392233.3_Silent_p.L344L	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	344					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GCCTGACCCTGACAGCCAAGC	0.572																																						ENST00000361216.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69						c.(1030-1032)ctG>ctC		ATPase, Na+/K+ transporting, alpha 2 polypeptide							83.0	77.0	79.0					1																	160098456		2203	4300	6503	SO:0001819	synonymous_variant	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160098456G>C	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.1032G>C	1.37:g.160098456G>C						ATP1A2_ENST00000392233.3_Silent_p.L344L|ATP1A2_ENST00000472488.1_3'UTR	p.L344L	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		9	1121	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		344					D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Silent	SNP	ENST00000361216.3	37	c.1032G>C	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	G	8.661	0.900587	0.17686	.	.	ENSG00000018625	ENST00000447527	.	.	.	4.77	3.86	0.44501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0569	0.53540	0.0858:0.0:0.9142:0.0	.	.	.	.	S	55	.	.	X	+	2	2	ATP1A2	158365080	0.990000	0.36364	1.000000	0.80357	0.929000	0.56500	0.128000	0.15810	1.141000	0.42275	0.561000	0.74099	TGA		0.572	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		4	86	0	0	0	0.248553	0	4	86				
TSHZ3	57616	broad.mit.edu	37	19	31770237	31770237	+	Silent	SNP	A	A	G			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr19:31770237A>G	ENST00000240587.4	-	2	789	c.462T>C	c.(460-462)agT>agC	p.S154S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	154	Ser-rich.				in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					tgctgctgctactgctgctgc	0.607																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(460-462)agT>agC		teashirt zinc finger homeobox 3							39.0	44.0	42.0					19																	31770237		2184	4294	6478	SO:0001819	synonymous_variant	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31770237A>G	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.462T>C	19.37:g.31770237A>G							p.S154S	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	789	-	Esophageal squamous(110;0.226)		154			Ser-rich.		Q9H0G6|Q9P254	Silent	SNP	ENST00000240587.4	37	c.462T>C	CCDS12421.2																																																																																				0.607	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		3	18	0	0	0	0.115264	0	3	18				
FAT2	2196	broad.mit.edu	37	5	150922048	150922048	+	Silent	SNP	G	G	A			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr5:150922048G>A	ENST00000261800.5	-	9	8652	c.8640C>T	c.(8638-8640)caC>caT	p.H2880H		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2880	Cadherin 25. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGTCTGTCCGTGGTCATAGG	0.493																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(8638-8640)caC>caT		FAT atypical cadherin 2							163.0	153.0	157.0					5																	150922048		2203	4300	6503	SO:0001819	synonymous_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150922048G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.8640C>T	5.37:g.150922048G>A							p.H2880H	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	8652	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	2880			Cadherin 25.		O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	c.8640C>T	CCDS4317.1																																																																																				0.493	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		4	144	0	0	0	0.184627	0	4	144				
ZNF702P	79986	broad.mit.edu	37	19	53472914	53472914	+	RNA	SNP	A	A	G			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr19:53472914A>G	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							TTTGATTTTCAATTAAAAACC	0.338																																						ENST00000600068.1																			0																																																			0							g.chr19:53472914A>G																													19.37:g.53472914A>G						ZNF702P_ENST00000270443.4_RNA								0	489	-									RNA	SNP	ENST00000600068.1	37																																																																																						0.338	CTD-2620I22.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000463881.1			4	27	0	0	0	0.150653	0	4	27				
MT-ND5	4540	broad.mit.edu	37	M	14132	14132	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chrM:14132T>C	ENST00000361567.2	+	1	1796	c.1796T>C	c.(1795-1797)cTa>cCa	p.L599P	MT-TT_ENST00000387460.2_RNA|MT-TP_ENST00000387461.2_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TE_ENST00000387459.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TH_ENST00000387441.1_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	0					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						CATCCTAACCCTACTCCTAAT	0.398																																						ENST00000361567.2																			0				breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						c.(1795-1797)cTa>cCa		mitochondrially encoded NADH dehydrogenase 5	NADH(DB00157)																																			SO:0001583	missense	4540				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chrM:14132T>C			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.1796T>C	M.37:g.14132T>C	ENSP00000354813:p.Leu599Pro						p.L599P			P03915	NU5M_HUMAN			1	1796	+			599					Q34773|Q8WCY3	Missense_Mutation	SNP	ENST00000361567.2	37	c.1796T>C																																																																																					0.398	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024036		2	2	0	0	0	0.115264	0	2	2				
ANK2	287	broad.mit.edu	37	4	114277273	114277273	+	Missense_Mutation	SNP	C	C	T	rs200377748		TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr4:114277273C>T	ENST00000357077.4	+	38	7552	c.7499C>T	c.(7498-7500)aCg>aTg	p.T2500M	ANK2_ENST00000264366.6_Missense_Mutation_p.T2467M|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2500					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GAACTCTTGACGGAAGTGGCC	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		19609	0.001		0.0	False		,,,				2504	0.0					ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(7498-7500)aCg>aTg		ankyrin 2, neuronal							71.0	73.0	72.0					4																	114277273		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114277273C>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.7499C>T	4.37:g.114277273C>T	ENSP00000349588:p.Thr2500Met					ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.T2467M	p.T2500M	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	7552	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	2467					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.7499C>T	CCDS3702.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	0.922	-0.715618	0.03206	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.67345	-0.25;-0.26	5.99	4.25	0.50352	.	0.891322	0.09615	N	0.778311	T	0.70945	0.3282	L	0.53249	1.67	0.32150	N	0.584359	D;B	0.54772	0.968;0.008	P;B	0.47528	0.549;0.003	T	0.71122	-0.4684	9	.	.	.	.	17.5385	0.87840	0.0:0.9332:0.0:0.0668	.	2467;2500	Q01484;Q01484-4	ANK2_HUMAN;.	M	2500;2467	ENSP00000349588:T2500M;ENSP00000264366:T2467M	.	T	+	2	0	ANK2	114496722	0.006000	0.16342	0.001000	0.08648	0.030000	0.12068	2.038000	0.41184	0.855000	0.35359	-1.063000	0.02288	ACG		0.532	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		13	91	0	0	0	0.435327	0	13	91				
CASKIN1	57524	broad.mit.edu	37	16	2233835	2233835	+	Silent	SNP	G	G	A	rs374360460		TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr16:2233835G>A	ENST00000343516.6	-	15	1616	c.1524C>T	c.(1522-1524)ccC>ccT	p.P508P	CASKIN1_ENST00000564289.1_Intron	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	508	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						AGCTCACCTCGGGAGTCATGC	0.667																																						ENST00000343516.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						c.(1522-1524)ccC>ccT		CASK interacting protein 1							38.0	48.0	45.0					16																	2233835		2173	4279	6452	SO:0001819	synonymous_variant	57524				signal transduction	cytoplasm		g.chr16:2233835G>A	AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.1524C>T	16.37:g.2233835G>A						CASKIN1_ENST00000564289.1_Intron	p.P508P	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN			15	1616	-			508			SAM 1.		Q9P2P0	Silent	SNP	ENST00000343516.6	37	c.1524C>T	CCDS42103.1																																																																																				0.667	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435055.1	NM_020764		3	86	0	0	0	0.150653	0	3	86				
ANKAR	150709	broad.mit.edu	37	2	190584454	190584454	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr2:190584454G>A	ENST00000520309.1	+	11	2469	c.2381G>A	c.(2380-2382)tGt>tAt	p.C794Y	ANKAR_ENST00000431575.2_Missense_Mutation_p.C723Y|ANKAR_ENST00000313581.4_Missense_Mutation_p.C794Y|ANKAR_ENST00000281412.6_Missense_Mutation_p.C558Y|ANKAR_ENST00000438402.2_Missense_Mutation_p.C794Y	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	794						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			CTACTGGTTTGTGATGAGCCT	0.398																																						ENST00000520309.1																			0				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46						c.(2380-2382)tGt>tAt		ankyrin and armadillo repeat containing							138.0	121.0	127.0					2																	190584454		2203	4300	6503	SO:0001583	missense	150709					integral to membrane	binding	g.chr2:190584454G>A	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.2381G>A	2.37:g.190584454G>A	ENSP00000427882:p.Cys794Tyr					ANKAR_ENST00000431575.2_Missense_Mutation_p.C723Y|ANKAR_ENST00000438402.2_Missense_Mutation_p.C794Y|ANKAR_ENST00000281412.6_Missense_Mutation_p.C558Y|ANKAR_ENST00000313581.4_Missense_Mutation_p.C794Y	p.C794Y	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		11	2469	+			794					Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	ENST00000520309.1	37	c.2381G>A	CCDS33351.2	.	.	.	.	.	.	.	.	.	.	G	3.373	-0.127930	0.06753	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000438402;ENST00000431575;ENST00000281412	T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58	5.31	-0.157	0.13387	.	0.485745	0.19488	N	0.113042	T	0.09468	0.0233	N	0.03608	-0.345	0.09310	N	1	.	.	.	.	.	.	T	0.25745	-1.0123	8	0.19147	T	0.46	-4.9475	3.8457	0.08934	0.1989:0.5388:0.1223:0.1401	.	.	.	.	Y	794;794;794;723;558	ENSP00000427882:C794Y;ENSP00000313513:C794Y;ENSP00000397243:C794Y;ENSP00000393043:C723Y;ENSP00000281412:C558Y	ENSP00000281412:C558Y	C	+	2	0	ANKAR	190292699	0.090000	0.21635	0.001000	0.08648	0.056000	0.15407	0.984000	0.29565	-0.014000	0.14175	-0.878000	0.02970	TGT		0.398	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		23	41	0	0	0	0.654019	0	23	41				
ARHGEF10L	55160	broad.mit.edu	37	1	17953976	17953976	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr1:17953976G>T	ENST00000361221.3	+	15	1721	c.1562G>T	c.(1561-1563)aGt>aTt	p.S521I	ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.S521I|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.S229I|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.S482I|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.S299I|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.S482I|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.S279I|ARHGEF10L_ENST00000469726.1_3'UTR	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	521						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		AAGAGCGTCAGTGACCGCAGC	0.667																																						ENST00000361221.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(1561-1563)aGt>aTt		Rho guanine nucleotide exchange factor (GEF) 10-like							44.0	37.0	39.0					1																	17953976		2202	4300	6502	SO:0001583	missense	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:17953976G>T	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.1562G>T	1.37:g.17953976G>T	ENSP00000355060:p.Ser521Ile					ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.S229I|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.S521I|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.S482I|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.S279I|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.S482I|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.S299I	p.S521I	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	15	1721	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	521					B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	ENST00000361221.3	37	c.1562G>T	CCDS182.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.421329	0.62622	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000434513;ENST00000375415;ENST00000375420;ENST00000375408;ENST00000457829;ENST00000167825	T;T;T;T;T;T;T	0.62364	0.36;0.38;0.21;0.38;0.03;0.11;2.32	5.14	4.23	0.50019	.	0.000000	0.85682	D	0.000000	T	0.74801	0.3764	M	0.63843	1.955	0.37180	D	0.903476	D;D;D;D;D;D;D;D	0.89917	0.999;0.997;0.999;1.0;0.999;0.999;1.0;0.999	D;D;D;D;D;D;D;D	0.76575	0.969;0.929;0.983;0.988;0.969;0.986;0.988;0.972	T	0.80567	-0.1325	10	0.72032	D	0.01	-20.4585	12.3647	0.55222	0.0823:0.0:0.9177:0.0	.	299;279;521;229;287;482;482;521	Q5VXI4;B4DTE2;Q9HCE6-5;Q9HCE6-4;B3KX74;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;.;.;.;.;ARGAL_HUMAN	I	521;482;521;482;279;299;299;229	ENSP00000355060:S521I;ENSP00000399401:S482I;ENSP00000394621:S521I;ENSP00000364564:S482I;ENSP00000364569:S279I;ENSP00000364557:S299I;ENSP00000167825:S229I	ENSP00000167825:S229I	S	+	2	0	ARHGEF10L	17826563	1.000000	0.71417	0.964000	0.40570	0.483000	0.33249	7.357000	0.79456	1.386000	0.46466	0.462000	0.41574	AGT		0.667	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		3	29	1	0	0.00024832	0.150653	0.000276538	3	29				
LENG8	114823	broad.mit.edu	37	19	54969308	54969308	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr19:54969308C>G	ENST00000326764.5	+	14	2408	c.1929C>G	c.(1927-1929)tgC>tgG	p.C643W	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	606										breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		TTAACCAGTGCCAGACGCAGC	0.572																																						ENST00000326764.5																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(1927-1929)tgC>tgG		leukocyte receptor cluster (LRC) member 8							104.0	100.0	101.0					19																	54969308		2203	4300	6503	SO:0001583	missense	114823						protein binding	g.chr19:54969308C>G	AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615			15500	protein-coding gene	gene with protein product						10941842	Standard	XM_005278248		Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548	ENST00000326764.5:c.1929C>G	19.37:g.54969308C>G	ENSP00000318374:p.Cys643Trp					LENG8_ENST00000376514.2_Intron	p.C643W	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN		GBM - Glioblastoma multiforme(193;0.139)	14	2408	+	Ovarian(34;0.19)		606					B0VJY9|Q8IZ27|Q8NCX6	Missense_Mutation	SNP	ENST00000326764.5	37	c.1929C>G	CCDS12894.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.339571	0.60963	.	.	ENSG00000167615	ENST00000326764;ENST00000301196;ENST00000376526;ENST00000431846	T;T;T	0.36878	1.23;1.23;1.23	5.16	1.9	0.25705	.	0.000000	0.85682	D	0.000000	T	0.63628	0.2527	M	0.92649	3.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.65487	-0.6156	10	0.87932	D	0	-55.1587	8.4873	0.33078	0.0:0.7421:0.0:0.2579	.	643;606	Q96PV6-2;F8W9Q9	.;.	W	643;606;606;643	ENSP00000318374:C643W;ENSP00000365709:C606W;ENSP00000388053:C643W	ENSP00000301196:C606W	C	+	3	2	LENG8	59661120	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.098000	0.41757	0.296000	0.22592	0.561000	0.74099	TGC		0.572	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140523.2	NM_052925		13	123	0	0	0	0.557998	0	13	123				
SGK3	23678	broad.mit.edu	37	8	67705990	67705990	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr8:67705990A>G	ENST00000396596.1	+	2	233	c.19A>G	c.(19-21)Atg>Gtg	p.M7V	SGK3_ENST00000345714.4_Missense_Mutation_p.M7V|C8orf44-SGK3_ENST00000519289.1_Missense_Mutation_p.M7V|SGK3_ENST00000520976.1_Missense_Mutation_p.M7V|SGK3_ENST00000522398.1_Missense_Mutation_p.M7V|SGK3_ENST00000521198.2_Missense_Mutation_p.M7V|C8orf44-SGK3_ENST00000520044.1_3'UTR	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	7					ion transmembrane transport (GO:0034220)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to stress (GO:0006950)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|phosphatidylinositol binding (GO:0035091)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			AGATCACACCATGGACTACAA	0.403																																						ENST00000396596.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18						c.(19-21)Atg>Gtg		serum/glucocorticoid regulated kinase family, member 3							81.0	73.0	76.0					8																	67705990		2203	4300	6503	SO:0001583	missense	23678				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity	g.chr8:67705990A>G		CCDS6195.1, CCDS6196.1	8q12	2008-07-28	2005-09-13	2005-09-13		ENSG00000104205			10812	protein-coding gene	gene with protein product		607591	"""serum/glucocorticoid regulated kinase-like"""	SGK2, SGKL		10585774, 10548550	Standard	NM_013257		Approved		uc003xwr.3	Q96BR1		ENST00000396596.1:c.19A>G	8.37:g.67705990A>G	ENSP00000379842:p.Met7Val					SGK3_ENST00000521198.2_Missense_Mutation_p.M7V|SGK3_ENST00000345714.4_Missense_Mutation_p.M7V|C8orf44-SGK3_ENST00000520044.1_3'UTR|SGK3_ENST00000520976.1_Missense_Mutation_p.M7V|SGK3_ENST00000522398.1_Missense_Mutation_p.M7V|C8orf44-SGK3_ENST00000519289.1_Missense_Mutation_p.M7V	p.M7V	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)		2	233	+	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	7					A8K5W3|B3KQC2|Q9P1Q7|Q9UKG5	Missense_Mutation	SNP	ENST00000396596.1	37	c.19A>G	CCDS6195.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.573855	0.86542	.	.	ENSG00000104205	ENST00000519289;ENST00000521198;ENST00000262211;ENST00000522398;ENST00000522629;ENST00000520976;ENST00000396596;ENST00000518388;ENST00000345714	T;T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;0.27;-0.4;-0.4	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.71230	0.3315	N	0.24115	0.695	0.39262	D	0.964230	P;P	0.43578	0.811;0.779	P;B	0.60789	0.879;0.262	T	0.76647	-0.2882	9	0.66056	D	0.02	.	15.6094	0.76704	1.0:0.0:0.0:0.0	.	7;7	Q96BR1-2;Q96BR1	.;SGK3_HUMAN	V	7	ENSP00000429022:M7V;ENSP00000430463:M7V;ENSP00000430256:M7V;ENSP00000430691:M7V;ENSP00000379842:M7V;ENSP00000331816:M7V	ENSP00000262211:M7V	M	+	1	0	SGK3	67868544	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.493000	0.81493	2.326000	0.78906	0.528000	0.53228	ATG		0.403	SGK3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379232.3			16	27	0	0	0	0.608945	0	16	27				
SCNN1G	6340	broad.mit.edu	37	16	23200962	23200962	+	Missense_Mutation	SNP	C	C	G	rs372209300		TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr16:23200962C>G	ENST00000300061.2	+	3	731	c.588C>G	c.(586-588)atC>atG	p.I196M		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	196					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)|WW domain binding (GO:0050699)			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TCATGCACATCGAGTCCAAGC	0.517																																						ENST00000300061.2																			0				NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34						c.(586-588)atC>atG		sodium channel, non-voltage-gated 1, gamma subunit	Amiloride(DB00594)|Triamterene(DB00384)						174.0	171.0	172.0					16																	23200962		2197	4300	6497	SO:0001583	missense	6340				excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23200962C>G	U48937	CCDS10608.1	16p12	2012-02-28	2012-02-28		ENSG00000166828	ENSG00000166828		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10602	protein-coding gene	gene with protein product		600761	"""sodium channel, nonvoltage-gated 1, gamma"", ""sodium channel, non-voltage-gated 1, gamma"""			7490094	Standard	NM_001039		Approved	ENaCgamma, SCNEG	uc002dlm.1	P51170	OTTHUMG00000131609	ENST00000300061.2:c.588C>G	16.37:g.23200962C>G	ENSP00000300061:p.Ile196Met						p.I196M	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN		GBM - Glioblastoma multiforme(48;0.0366)	3	731	+			196					P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	Missense_Mutation	SNP	ENST00000300061.2	37	c.588C>G	CCDS10608.1	.	.	.	.	.	.	.	.	.	.	C	4.715	0.132882	0.09032	.	.	ENSG00000166828	ENST00000300061	T	0.70631	-0.5	5.75	1.18	0.20946	.	0.796461	0.11179	N	0.591151	T	0.47322	0.1439	N	0.08118	0	0.09310	N	1	B	0.17268	0.021	B	0.20184	0.028	T	0.36792	-0.9733	10	0.46703	T	0.11	-23.2415	5.7057	0.17907	0.0:0.2899:0.4134:0.2966	.	196	P51170	SCNNG_HUMAN	M	196	ENSP00000300061:I196M	ENSP00000300061:I196M	I	+	3	3	SCNN1G	23108463	0.001000	0.12720	0.061000	0.19648	0.432000	0.31715	-1.436000	0.02421	0.289000	0.22422	0.511000	0.50034	ATC		0.517	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254496.1	NM_001039		5	284	0	0	0	0.217242	0	5	284				
ANGPTL5	253935	broad.mit.edu	37	11	101775573	101775573	+	Silent	SNP	A	A	G			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr11:101775573A>G	ENST00000334289.3	-	5	1006	c.411T>C	c.(409-411)ccT>ccC	p.P137P		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	137						extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		TGTGAGGAAAAGGATCCAGCT	0.358																																						ENST00000334289.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29						c.(409-411)ccT>ccC		angiopoietin-like 5							97.0	101.0	99.0					11																	101775573		2203	4299	6502	SO:0001819	synonymous_variant	253935				signal transduction	extracellular space	receptor binding	g.chr11:101775573A>G	BC049170	CCDS8312.1	11q22.2	2013-02-06				ENSG00000187151		"""Fibrinogen C domain containing"""	19705	protein-coding gene	gene with protein product		607666				12624729	Standard	NM_178127		Approved		uc001pgl.3	Q86XS5		ENST00000334289.3:c.411T>C	11.37:g.101775573A>G							p.P137P	NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0328)	5	1006	-		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)	137					A8K658|Q86VR9	Silent	SNP	ENST00000334289.3	37	c.411T>C	CCDS8312.1																																																																																				0.358	ANGPTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394138.1	NM_178127		3	72	0	0	0	0.184627	0	3	72				
CELSR1	9620	broad.mit.edu	37	22	46785281	46785281	+	Missense_Mutation	SNP	C	C	A	rs201324896		TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr22:46785281C>A	ENST00000262738.3	-	18	6460	c.6461G>T	c.(6460-6462)cGc>cTc	p.R2154L		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2154					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GTAGGCCGTGCGCACGTCATT	0.672																																						ENST00000262738.3																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(6460-6462)cGc>cTc		cadherin, EGF LAG seven-pass G-type receptor 1							43.0	36.0	39.0					22																	46785281		2203	4299	6502	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46785281C>A	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.6461G>T	22.37:g.46785281C>A	ENSP00000262738:p.Arg2154Leu						p.R2154L	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	18	6460	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	2154					O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.6461G>T	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.466069	0.63625	.	.	ENSG00000075275	ENST00000262738	T	0.07908	3.15	4.99	3.96	0.45880	Domain of unknown function DUF3497 (1);	0.164522	0.34531	U	0.003884	T	0.25754	0.0627	M	0.76002	2.32	0.80722	D	1	D;D	0.89917	1.0;0.99	D;P	0.79784	0.993;0.866	T	0.05869	-1.0859	10	0.19147	T	0.46	.	14.2812	0.66213	0.1503:0.8497:0.0:0.0	.	475;2154	B7Z7U7;Q9NYQ6	.;CELR1_HUMAN	L	2154	ENSP00000262738:R2154L	ENSP00000262738:R2154L	R	-	2	0	CELSR1	45163945	1.000000	0.71417	0.968000	0.41197	0.878000	0.50629	3.525000	0.53502	1.078000	0.41014	0.655000	0.94253	CGC		0.672	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		3	38	1	0	0.115264	0.115264	0.120169	3	38				
SEMA3A	10371	broad.mit.edu	37	7	83640389	83640389	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr7:83640389T>G	ENST00000265362.4	-	9	1258	c.944A>C	c.(943-945)aAc>aCc	p.N315T	SEMA3A_ENST00000436949.1_Missense_Mutation_p.N315T	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	315	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						ATCTTTAAAGTTCATTAGGAA	0.299																																						ENST00000265362.3																			0				breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(943-945)aAc>aCc		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A							60.0	64.0	62.0					7																	83640389		2202	4300	6502	SO:0001583	missense	10371				axon guidance	extracellular region|membrane	receptor activity	g.chr7:83640389T>G	L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.944A>C	7.37:g.83640389T>G	ENSP00000265362:p.Asn315Thr					SEMA3A_ENST00000436949.1_Missense_Mutation_p.N315T	p.N315T	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN			9	1258	-			315			Sema.			Missense_Mutation	SNP	ENST00000265362.4	37	c.944A>C	CCDS5599.1	.	.	.	.	.	.	.	.	.	.	T	13.35	2.210600	0.39102	.	.	ENSG00000075213	ENST00000265362;ENST00000436949	T;T	0.10288	2.89;2.89	5.97	5.97	0.96955	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.038935	0.85682	D	0.000000	T	0.09862	0.0242	N	0.25957	0.775	0.46725	D	0.999179	B	0.17667	0.023	B	0.22880	0.042	T	0.26224	-1.0109	10	0.19590	T	0.45	.	16.4383	0.83889	0.0:0.0:0.0:1.0	.	315	Q14563	SEM3A_HUMAN	T	315	ENSP00000265362:N315T;ENSP00000415260:N315T	ENSP00000265362:N315T	N	-	2	0	SEMA3A	83478325	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.321000	0.59209	2.287000	0.76781	0.482000	0.46254	AAC		0.299	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080		6	44	0	0	0	0.217242	0	6	44				
CD209	30835	broad.mit.edu	37	19	7810767	7810767	+	Missense_Mutation	SNP	G	G	A	rs146082308		TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr19:7810767G>A	ENST00000315599.7	-	4	407	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W	CD209_ENST00000394161.5_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.R129W|CD209_ENST00000593660.1_Missense_Mutation_p.R105W|CD209_ENST00000602261.1_Missense_Mutation_p.R129W|CD209_ENST00000301357.8_Missense_Mutation_p.R85W|CD209_ENST00000315591.8_Missense_Mutation_p.R105W|CD209_ENST00000601951.1_Missense_Mutation_p.R105W|CD209_ENST00000204801.8_Missense_Mutation_p.R85W|CD209_ENST00000394173.4_Intron|CD209_ENST00000601256.1_Missense_Mutation_p.R105W|CD209_ENST00000593821.1_Missense_Mutation_p.R85W	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	129	7 X approximate tandem repeats.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)	p.R129W(4)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCCTTCAGCCGGGTCAGCTCC	0.567																																						ENST00000315599.7																			4	Substitution - Missense(4)	p.R129W(4)	endometrium(4)	endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(385-387)Cgg>Tgg		CD209 molecule							89.0	92.0	91.0					19																	7810767		2202	4297	6499	SO:0001583	missense	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7810767G>A	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"""C-type lectin domain containing"", ""CD molecules"""	1641	protein-coding gene	gene with protein product		604672	"""CD209 antigen"""			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.385C>T	19.37:g.7810767G>A	ENSP00000315477:p.Arg129Trp					CD209_ENST00000602261.1_Missense_Mutation_p.R129W|CD209_ENST00000315591.8_Missense_Mutation_p.R105W|CD209_ENST00000601951.1_Missense_Mutation_p.R105W|CD209_ENST00000301357.8_Missense_Mutation_p.R85W|CD209_ENST00000601256.1_Missense_Mutation_p.R105W|CD209_ENST00000593821.1_Missense_Mutation_p.R85W|CD209_ENST00000593660.1_Missense_Mutation_p.R105W|CD209_ENST00000394173.4_Intron|CD209_ENST00000394161.5_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.R129W|CD209_ENST00000204801.8_Missense_Mutation_p.R85W	p.R129W	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN			4	407	-			129			7 X approximate tandem repeats.		A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Missense_Mutation	SNP	ENST00000315599.7	37	c.385C>T	CCDS12186.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.167766	0.38315	.	.	ENSG00000090659	ENST00000315599;ENST00000354397;ENST00000315591;ENST00000204801;ENST00000394173;ENST00000301357;ENST00000540789	T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;2.27	1.37	0.149	0.14863	.	.	.	.	.	T	0.24236	0.0587	L	0.28192	0.835	0.09310	N	1	B;B;D;D;B;D;B;B;B;B	0.64830	0.021;0.005;0.968;0.994;0.012;0.985;0.007;0.011;0.01;0.012	B;B;P;P;B;P;B;B;B;B	0.54815	0.008;0.008;0.534;0.761;0.005;0.663;0.002;0.006;0.003;0.009	T	0.12016	-1.0564	9	0.56958	D	0.05	.	4.5792	0.12250	0.0:0.0:0.6254:0.3746	.	129;105;85;85;105;129;129;105;105;129	Q9NNX6-2;Q9NNX6-12;Q9NNX6-7;Q9NNX6-8;Q9NNX6-6;G5E9C4;Q9NNX6;Q9NNX6-11;Q9NNX6-10;Q9NNX6-5	.;.;.;.;.;.;CD209_HUMAN;.;.;.	W	129;129;105;85;129;85;113	ENSP00000315477:R129W;ENSP00000346373:R129W;ENSP00000315407:R105W;ENSP00000204801:R85W;ENSP00000301357:R85W	ENSP00000204801:R85W	R	-	1	2	CD209	7716767	0.000000	0.05858	0.010000	0.14722	0.462000	0.32619	-0.010000	0.12743	0.103000	0.17682	0.449000	0.29647	CGG		0.567	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		5	200	0	0	0	0.217242	0	5	200				
TSHZ3	57616	broad.mit.edu	37	19	31770234	31770234	+	Silent	SNP	G	G	A			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr19:31770234G>A	ENST00000240587.4	-	2	792	c.465C>T	c.(463-465)agC>agT	p.S155S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	155	Ser-rich.				in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S155S(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					tgctgctgctgctactgctgc	0.612																																						ENST00000240587.4																			1	Substitution - coding silent(1)	p.S155S(1)	endometrium(1)	breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(463-465)agC>agT		teashirt zinc finger homeobox 3							38.0	42.0	41.0					19																	31770234		2184	4295	6479	SO:0001819	synonymous_variant	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31770234G>A	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.465C>T	19.37:g.31770234G>A							p.S155S	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	792	-	Esophageal squamous(110;0.226)		155			Ser-rich.		Q9H0G6|Q9P254	Silent	SNP	ENST00000240587.4	37	c.465C>T	CCDS12421.2																																																																																				0.612	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		3	17	0	0	0	0.115264	0	3	17				
LRFN5	145581	broad.mit.edu	37	14	42356070	42356070	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr14:42356070C>A	ENST00000298119.4	+	3	1431	c.242C>A	c.(241-243)aCt>aAt	p.T81N	LRFN5_ENST00000554171.1_Missense_Mutation_p.T81N|LRFN5_ENST00000554120.1_Missense_Mutation_p.T81N	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	81						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GTGGACCTGACTCTATCCAGG	0.373										HNSCC(30;0.082)																												ENST00000554171.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120						c.(241-243)aCt>aAt		leucine rich repeat and fibronectin type III domain containing 5							54.0	53.0	54.0					14																	42356070		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42356070C>A	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.242C>A	14.37:g.42356070C>A	ENSP00000298119:p.Thr81Asn	HNSCC(30;0.082)				LRFN5_ENST00000554120.1_Missense_Mutation_p.T81N|LRFN5_ENST00000298119.4_Missense_Mutation_p.T81N	p.T81N			Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	5	2674	+			81					B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.242C>A	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	C	17.77	3.471068	0.63625	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.49432	0.78;0.78;0.78	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000018	T	0.39064	0.1064	N	0.00894	-1.105	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.81914	0.988;0.995	T	0.56908	-0.7901	10	0.20046	T	0.44	.	17.0193	0.86429	0.0:1.0:0.0:0.0	.	81;81	G3V364;Q96NI6	.;LRFN5_HUMAN	N	81	ENSP00000298119:T81N;ENSP00000451897:T81N;ENSP00000451067:T81N	ENSP00000298119:T81N	T	+	2	0	LRFN5	41425820	1.000000	0.71417	0.998000	0.56505	0.935000	0.57460	7.818000	0.86416	2.595000	0.87683	0.650000	0.86243	ACT		0.373	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		27	36	1	0	5.45727e-16	0.729181	6.36681e-16	27	36				
XIST	7503	broad.mit.edu	37	X	73066504	73066504	+	lincRNA	SNP	A	A	T			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chrX:73066504A>T	ENST00000429829.1	-	0	6084					NR_001564.2				X inactive specific transcript (non-protein coding)																		GGAAGGGAAAAGTGGGGATGA	0.478																																						ENST00000429829.1																			0																				89.0	79.0	82.0					X																	73066504		876	1991	2867			0							g.chrX:73066504A>T	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73066504A>T								NR_001564.2						0	6084	-									RNA	SNP	ENST00000429829.1	37																																																																																						0.478	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		4	19	0	0	0	0.217242	0	4	19				
ANKAR	150709	broad.mit.edu	37	2	190557050	190557050	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr2:190557050T>C	ENST00000520309.1	+	4	1197	c.1109T>C	c.(1108-1110)tTt>tCt	p.F370S	ANKAR_ENST00000431575.2_Missense_Mutation_p.F299S|ANKAR_ENST00000438402.2_Missense_Mutation_p.F370S|ANKAR_ENST00000461516.1_Intron|ANKAR_ENST00000281412.6_Missense_Mutation_p.F134S|ANKAR_ENST00000313581.4_Missense_Mutation_p.F370S	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	370						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TGCCAGAATTTTCACTACAAA	0.318																																						ENST00000520309.1																			0				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46						c.(1108-1110)tTt>tCt		ankyrin and armadillo repeat containing							66.0	70.0	69.0					2																	190557050		2203	4299	6502	SO:0001583	missense	150709					integral to membrane	binding	g.chr2:190557050T>C	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.1109T>C	2.37:g.190557050T>C	ENSP00000427882:p.Phe370Ser					ANKAR_ENST00000313581.4_Missense_Mutation_p.F370S|ANKAR_ENST00000431575.2_Missense_Mutation_p.F299S|ANKAR_ENST00000461516.1_Intron|ANKAR_ENST00000438402.2_Missense_Mutation_p.F370S|ANKAR_ENST00000281412.6_Missense_Mutation_p.F134S	p.F370S	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		4	1197	+			370					Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	ENST00000520309.1	37	c.1109T>C	CCDS33351.2	.	.	.	.	.	.	.	.	.	.	T	27.3	4.816161	0.90790	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000438402;ENST00000431575;ENST00000281412	T;T;T;T;T	0.61742	0.13;0.13;0.08;0.13;0.08	5.78	5.78	0.91487	.	0.266234	0.27016	N	0.021353	T	0.74435	0.3716	M	0.65498	2.005	0.47778	D	0.99951	D	0.76494	0.999	D	0.83275	0.996	T	0.76932	-0.2776	10	0.72032	D	0.01	-2.0555	15.1018	0.72284	0.0:0.0:0.0:1.0	.	370	Q7Z5J8	ANKAR_HUMAN	S	370;370;370;299;134	ENSP00000427882:F370S;ENSP00000313513:F370S;ENSP00000397243:F370S;ENSP00000393043:F299S;ENSP00000281412:F134S	ENSP00000281412:F134S	F	+	2	0	ANKAR	190265295	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.531000	0.67148	2.204000	0.70986	0.528000	0.53228	TTT		0.318	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		9	40	0	0	0	0.361761	0	9	40				
GALNT10	55568	broad.mit.edu	37	5	153760070	153760070	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr5:153760070G>A	ENST00000297107.6	+	6	954	c.817G>A	c.(817-819)Gac>Aac	p.D273N	SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377661.2_Missense_Mutation_p.D211N|GALNT10_ENST00000519544.1_3'UTR|GALNT10_ENST00000425427.2_Missense_Mutation_p.D273N	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	273					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			TGACCATGACGACTTTCGGTA	0.532																																						ENST00000297107.6																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(817-819)Gac>Aac		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)							202.0	178.0	186.0					5																	153760070		2203	4300	6503	SO:0001583	missense	55568					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr5:153760070G>A	AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19873	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 10"""	608043	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"""			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.817G>A	5.37:g.153760070G>A	ENSP00000297107:p.Asp273Asn					SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377661.2_Missense_Mutation_p.D211N|GALNT10_ENST00000425427.2_Missense_Mutation_p.D273N|GALNT10_ENST00000519544.1_3'UTR	p.D273N	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)		6	954	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	273					B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Missense_Mutation	SNP	ENST00000297107.6	37	c.817G>A	CCDS4325.1	.	.	.	.	.	.	.	.	.	.	G	2.665	-0.278898	0.05642	.	.	ENSG00000164574	ENST00000425427;ENST00000297107;ENST00000377661	T;T;T	0.59364	0.27;0.27;0.27	5.59	4.71	0.59529	Glycosyl transferase, family 2 (1);	0.089022	0.85682	D	0.000000	T	0.31827	0.0809	N	0.04724	-0.175	0.80722	D	1	B;B;B	0.18461	0.001;0.014;0.028	B;B;B	0.10450	0.003;0.005;0.005	T	0.15809	-1.0424	10	0.28530	T	0.3	.	7.8429	0.29408	0.0965:0.2897:0.6138:0.0	.	211;273;273	Q86SR1-2;Q86SR1;Q86SR1-3	.;GLT10_HUMAN;.	N	273;273;211	ENSP00000415210:D273N;ENSP00000297107:D273N;ENSP00000366889:D211N	ENSP00000297107:D273N	D	+	1	0	GALNT10	153740263	1.000000	0.71417	0.987000	0.45799	0.324000	0.28378	4.258000	0.58822	2.637000	0.89404	0.462000	0.41574	GAC		0.532	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	NM_198321		17	185	0	0	0	0.575678	0	17	185				
RNF43	54894	broad.mit.edu	37	17	56434877	56434877	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr17:56434877C>G	ENST00000584437.1	-	8	4215	c.2260G>C	c.(2260-2262)Ggc>Cgc	p.G754R	RNF43_ENST00000500597.2_Missense_Mutation_p.G713R|RNF43_ENST00000583753.1_Missense_Mutation_p.G713R|RNF43_ENST00000577716.1_Missense_Mutation_p.G754R|RNF43_ENST00000407977.2_Missense_Mutation_p.G754R|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Missense_Mutation_p.G627R|RNF43_ENST00000577625.1_Missense_Mutation_p.G627R			Q68DV7	RNF43_HUMAN	ring finger protein 43	754	Pro-rich.				negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CATGGCCTGCCCTCTGCGGTG	0.597																																						ENST00000584437.1																			0				NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60						c.(2260-2262)Ggc>Cgc		ring finger protein 43							76.0	73.0	74.0					17																	56434877		2203	4300	6503	SO:0001583	missense	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56434877C>G		CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.2260G>C	17.37:g.56434877C>G	ENSP00000463069:p.Gly754Arg					BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Missense_Mutation_p.G627R|RNF43_ENST00000577625.1_Missense_Mutation_p.G627R|RNF43_ENST00000583753.1_Missense_Mutation_p.G713R|RNF43_ENST00000577716.1_Missense_Mutation_p.G754R|RNF43_ENST00000500597.2_Missense_Mutation_p.G713R|RNF43_ENST00000407977.2_Missense_Mutation_p.G754R	p.G754R			Q68DV7	RNF43_HUMAN			8	4215	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		754			Pro-rich.		A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP	ENST00000584437.1	37	c.2260G>C	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.845019	0.32606	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.08370	3.24;3.1	5.71	2.66	0.31614	.	0.395377	0.21743	N	0.069797	T	0.05640	0.0148	N	0.24115	0.695	0.28069	N	0.932672	B;B;B	0.32101	0.033;0.356;0.019	B;B;B	0.29598	0.034;0.104;0.015	T	0.23547	-1.0185	10	0.72032	D	0.01	-7.3176	7.8483	0.29440	0.0:0.742:0.0:0.258	.	713;754;754	Q68DV7-2;Q68DV7-4;Q68DV7	.;.;RNF43_HUMAN	R	754;713	ENSP00000385328:G754R;ENSP00000441969:G713R	ENSP00000385328:G754R	G	-	1	0	RNF43	53789876	0.123000	0.22298	0.857000	0.33713	0.106000	0.19336	0.231000	0.17872	0.359000	0.24239	0.511000	0.50034	GGC		0.597	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		16	99	0	0	0	0.539581	0	16	99				
ARMS2	387715	broad.mit.edu	37	10	124214267	124214267	+	Silent	SNP	G	G	T	rs201895396		TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr10:124214267G>T	ENST00000528446.1	+	1	99	c.24G>T	c.(22-24)ccG>ccT	p.P8P		NM_001099667.1	NP_001093137.1	P0C7Q2	ARMS2_HUMAN	age-related maculopathy susceptibility 2	8					retina homeostasis (GO:0001895)	mitochondrion (GO:0005739)|photoreceptor inner segment (GO:0001917)				ovary(1)	1		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ACCCAGGACCGATGGTAACTG	0.572																																						ENST00000528446.1																			0				ovary(1)	1						c.(22-24)ccG>ccT		age-related maculopathy susceptibility 2							99.0	104.0	102.0					10																	124214267		2048	4194	6242	SO:0001819	synonymous_variant	387715				retina homeostasis	mitochondrion|photoreceptor inner segment		g.chr10:124214267G>T	BC066349	CCDS53585.1	10q26.13	2013-01-23			ENSG00000254636	ENSG00000254636			32685	protein-coding gene	gene with protein product		611313				16080115, 16174643	Standard	NM_001099667		Approved	LOC387715, ARMD8	uc001lgi.3	P0C7Q2	OTTHUMG00000048232	ENST00000528446.1:c.24G>T	10.37:g.124214267G>T							p.P8P	NM_001099667.1	NP_001093137.1	P0C7Q2	ARMS2_HUMAN			1	99	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	8					B2Y7I5	Silent	SNP	ENST00000528446.1	37	c.24G>T	CCDS53585.1																																																																																				0.572	ARMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109727.2			3	109	1	0	0.115264	0.115264	0.120169	3	109				
CSPG4	1464	broad.mit.edu	37	15	75982728	75982728	+	Silent	SNP	T	T	C			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr15:75982728T>C	ENST00000308508.5	-	3	770	c.678A>G	c.(676-678)ctA>ctG	p.L226L		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	226	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GTGTAAACTCTAGGGTTCCTT	0.607																																						ENST00000308508.5																			0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(676-678)ctA>ctG		chondroitin sulfate proteoglycan 4							20.0	22.0	21.0					15																	75982728		2187	4271	6458	SO:0001819	synonymous_variant	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75982728T>C	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.678A>G	15.37:g.75982728T>C							p.L226L	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN			3	770	-			226			Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2.|Neurite growth inhibition (By similarity).		D3DW77|Q92675	Silent	SNP	ENST00000308508.5	37	c.678A>G	CCDS10284.1																																																																																				0.607	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		3	24	0	0	0	0.184627	0	3	24				
PTPRA	5786	broad.mit.edu	37	20	2988040	2988040	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr20:2988040G>A	ENST00000216877.6	+	10	1253	c.853G>A	c.(853-855)Gat>Aat	p.D285N	PTPRA_ENST00000380393.3_Missense_Mutation_p.D294N|PTPRA_ENST00000358719.4_Missense_Mutation_p.D150N|PTPRA_ENST00000425918.2_Missense_Mutation_p.D305N|PTPRA_ENST00000356147.3_Missense_Mutation_p.D285N|PTPRA_ENST00000399903.2_Missense_Mutation_p.D294N|PTPRA_ENST00000318266.5_Missense_Mutation_p.D285N	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	294	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TCCAGATTCTGATTACATCAA	0.448																																						ENST00000216877.6																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(853-855)Gat>Aat		protein tyrosine phosphatase, receptor type, A							217.0	190.0	199.0					20																	2988040		2203	4300	6503	SO:0001583	missense	0				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr20:2988040G>A		CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.853G>A	20.37:g.2988040G>A	ENSP00000216877:p.Asp285Asn					PTPRA_ENST00000399903.2_Missense_Mutation_p.D294N|PTPRA_ENST00000358719.4_Missense_Mutation_p.D150N|PTPRA_ENST00000380393.3_Missense_Mutation_p.D294N|PTPRA_ENST00000425918.2_Missense_Mutation_p.D305N|PTPRA_ENST00000318266.5_Missense_Mutation_p.D285N|PTPRA_ENST00000356147.3_Missense_Mutation_p.D285N	p.D285N	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN			10	1253	+			294			Tyrosine-protein phosphatase 1.		A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Missense_Mutation	SNP	ENST00000216877.6	37	c.853G>A	CCDS13039.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.957027	0.92726	.	.	ENSG00000132670	ENST00000380393;ENST00000216877;ENST00000399903;ENST00000358719;ENST00000425918;ENST00000318266;ENST00000356147	T;T;T;T;T;T;T	0.16073	2.37;2.37;2.37;2.37;2.37;2.37;2.37	5.46	5.46	0.80206	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.85682	U	0.000000	T	0.52125	0.1715	M	0.90019	3.08	0.80722	D	1	D;D;D	0.89917	1.0;0.964;0.992	D;P;P	0.76575	0.988;0.608;0.872	T	0.61088	-0.7133	10	0.87932	D	0	.	19.2614	0.93970	0.0:0.0:1.0:0.0	.	305;294;285	B7Z2A4;P18433;P18433-4	.;PTPRA_HUMAN;.	N	294;285;294;150;305;285;285	ENSP00000369756:D294N;ENSP00000216877:D285N;ENSP00000382787:D294N;ENSP00000351559:D150N;ENSP00000393553:D305N;ENSP00000314568:D285N;ENSP00000348468:D285N	ENSP00000216877:D285N	D	+	1	0	PTPRA	2936040	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.507000	0.90522	2.723000	0.93209	0.650000	0.86243	GAT		0.448	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077682.3			48	95	0	0	0	0.870114	0	48	95				
SERPINA6	866	broad.mit.edu	37	14	94780979	94780979	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr14:94780979G>A	ENST00000341584.3	-	2	153	c.7C>T	c.(7-9)Ctc>Ttc	p.L3F		NM_001756.3	NP_001747	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	3					glucocorticoid metabolic process (GO:0008211)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)|steroid binding (GO:0005496)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	TACAGGAGGAGTGGCATTGTC	0.547																																						ENST00000341584.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26						c.(7-9)Ctc>Ttc		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)						77.0	81.0	79.0					14																	94780979		2203	4300	6503	SO:0001583	missense	866				regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding	g.chr14:94780979G>A	J02943	CCDS9924.1	14q32.13	2014-02-18	2005-08-18		ENSG00000170099	ENSG00000170099		"""Serine (or cysteine) peptidase inhibitors"""	1540	protein-coding gene	gene with protein product	"""corticosteroid binding globulin"", ""transcortin"""	122500	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6"""	CBG		3299377, 7912884, 24172014	Standard	NM_001756		Approved		uc001ycv.3	P08185	OTTHUMG00000171346	ENST00000341584.3:c.7C>T	14.37:g.94780979G>A	ENSP00000342850:p.Leu3Phe						p.L3F	NM_001756.3	NP_001747.2	P08185	CBG_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	2	153	-		all_cancers(154;0.0482)|all_epithelial(191;0.166)	3					A8K456|Q7Z2Q9	Missense_Mutation	SNP	ENST00000341584.3	37	c.7C>T	CCDS9924.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091018	0.76756	.	.	ENSG00000170099	ENST00000341584;ENST00000557225	D;D	0.88586	-2.4;-1.76	4.87	0.179	0.15063	Serpin domain (1);	0.663258	0.12926	N	0.427758	T	0.78033	0.4220	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.65286	-0.6205	10	0.46703	T	0.11	.	6.8105	0.23802	0.591:0.0:0.409:0.0	.	3	P08185	CBG_HUMAN	F	3	ENSP00000342850:L3F;ENSP00000452018:L3F	ENSP00000342850:L3F	L	-	1	0	SERPINA6	93850732	0.000000	0.05858	0.000000	0.03702	0.891000	0.51852	0.363000	0.20301	0.140000	0.18849	0.563000	0.77884	CTC		0.547	SERPINA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413065.1	NM_001756		14	101	0	0	0	0.539581	0	14	101				
FCRLA	84824	broad.mit.edu	37	1	161683034	161683034	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	db9ab0ec-cd1f-4e69-935e-8e1665d07473	g.chr1:161683034C>A	ENST00000236938.6	+	5	1237	c.995C>A	c.(994-996)cCt>cAt	p.P332H	FCRLA_ENST00000309691.6_Missense_Mutation_p.P226H|FCRLA_ENST00000349527.4_Missense_Mutation_p.P220H|FCRLA_ENST00000367957.2_Missense_Mutation_p.P192H|FCRLA_ENST00000367959.2_Missense_Mutation_p.P338H|FCRLA_ENST00000367949.2_Missense_Mutation_p.P148H|FCRLA_ENST00000540521.1_Missense_Mutation_p.P198H|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000367950.1_Missense_Mutation_p.P108H|FCRLA_ENST00000294796.4_Missense_Mutation_p.P181H|FCRLA_ENST00000546024.1_Missense_Mutation_p.P243H|FCRLA_ENST00000367953.3_Missense_Mutation_p.P321H|FCRLA_ENST00000350710.3_Missense_Mutation_p.P97H|FCRLA_ENST00000540926.1_Missense_Mutation_p.P321H	NM_032738.3	NP_116127.3	Q7L513	FCRLA_HUMAN	Fc receptor-like A	315					cell differentiation (GO:0030154)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			ATGCCAGATCCTCATCTGTAT	0.572																																						ENST00000367959.2																			0				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34						c.(1012-1014)cCt>cAt		Fc receptor-like A							72.0	71.0	72.0					1																	161683034		2203	4300	6503	SO:0001583	missense	84824				cell differentiation	cytoplasm|extracellular region		g.chr1:161683034C>A	AF531423	CCDS30926.1, CCDS53415.1, CCDS53416.1, CCDS53417.1, CCDS53418.1, CCDS53419.1, CCDS53420.1	1q23.3	2014-01-28	2006-09-26	2006-09-26	ENSG00000132185	ENSG00000132185		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18504	protein-coding gene	gene with protein product		606891	"""Fc receptor-like and mucin-like 1"""	FCRLM1		11754007	Standard	NM_001184866		Approved	MGC4595, FCRLc2, FCRLb, FCRLc1, FCRLd, FCRLe, FCRL, FCRLa, FREB, FCRLX	uc001gbe.3	Q7L513	OTTHUMG00000034537	ENST00000236938.6:c.995C>A	1.37:g.161683034C>A	ENSP00000236938:p.Pro332His					FCRLA_ENST00000349527.4_Missense_Mutation_p.P220H|FCRLA_ENST00000367953.3_Missense_Mutation_p.P321H|FCRLA_ENST00000309691.6_Missense_Mutation_p.P226H|FCRLA_ENST00000367957.2_Missense_Mutation_p.P192H|FCRLA_ENST00000294796.4_Missense_Mutation_p.P181H|FCRLA_ENST00000540926.1_Missense_Mutation_p.P321H|FCRLA_ENST00000546024.1_Missense_Mutation_p.P243H|FCRLA_ENST00000540521.1_Missense_Mutation_p.P198H|FCRLA_ENST00000236938.6_Missense_Mutation_p.P332H|FCRLA_ENST00000367949.2_Missense_Mutation_p.P148H|FCRLA_ENST00000367950.1_Missense_Mutation_p.P108H|FCRLA_ENST00000350710.3_Missense_Mutation_p.P97H|FCRLA_ENST00000470841.1_3'UTR	p.P338H	NM_001184866.1	NP_001171795.1	Q7L513	FCRLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00301)		6	1255	+	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		315					A0N0M1|A6NC03|A6NL20|F5H720|F8W743|G3V1J2|Q5VXA1|Q5VXA2|Q5VXA3|Q5VXA4|Q5VXB0|Q5VXB1|Q8NEW4|Q8WXH3|Q96PC6|Q96PJ0|Q96PJ1|Q96PJ2|Q96PJ4|Q9BR57	Missense_Mutation	SNP	ENST00000236938.6	37	c.1013C>A	CCDS30926.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.198378	0.38806	.	.	ENSG00000132185	ENST00000236938;ENST00000367959;ENST00000546024;ENST00000540521;ENST00000367949;ENST00000350710;ENST00000540926;ENST00000367957;ENST00000349527;ENST00000309691;ENST00000294796;ENST00000367953;ENST00000367950	T;T;T;T;T;T;T;T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02	5.23	4.32	0.51571	.	0.000000	0.56097	D	0.000035	T	0.43875	0.1267	L	0.54323	1.7	0.26723	N	0.970734	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.975;0.999;0.999;0.981;0.999;0.998;0.999	T	0.35151	-0.9800	10	0.87932	D	0	.	9.5791	0.39477	0.0:0.9064:0.0:0.0936	.	97;148;198;192;243;338;332	F8W743;A6NL20;F5H720;Q5VXB1;G3V1J2;A6NC03;Q7L513-9	.;.;.;.;.;.;.	H	332;338;243;198;148;97;321;192;220;226;181;321;108	ENSP00000236938:P332H;ENSP00000356936:P338H;ENSP00000439838:P243H;ENSP00000442870:P198H;ENSP00000356926:P148H;ENSP00000344808:P97H;ENSP00000446380:P321H;ENSP00000356934:P192H;ENSP00000294798:P220H;ENSP00000309596:P226H;ENSP00000294796:P181H;ENSP00000356930:P321H;ENSP00000356927:P108H	ENSP00000236938:P332H	P	+	2	0	FCRLA	159949658	0.552000	0.26505	0.291000	0.24904	0.227000	0.25037	3.235000	0.51328	1.444000	0.47605	-0.136000	0.14681	CCT		0.572	FCRLA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083574.1	NM_032738		3	53	1	0	0.00024832	0.150653	0.000274737	3	53				
GPR128	84873	broad.mit.edu	37	3	100368589	100368589	+	Silent	SNP	C	C	T	rs373912284		TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	db9ab0ec-cd1f-4e69-935e-8e1665d07473	g.chr3:100368589C>T	ENST00000273352.3	+	11	1585	c.1317C>T	c.(1315-1317)aaC>aaT	p.N439N	GPR128_ENST00000475887.1_Silent_p.N144N	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	439					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						TATTATCCAACGTTGGATGTG	0.373																																					Pancreas(87;185 1975 7223 18722)	ENST00000273352.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						c.(1315-1317)aaC>aaT		G protein-coupled receptor 128		C		0,4406		0,0,2203	137.0	129.0	132.0		1317	-11.0	0.0	3		132	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GPR128	NM_032787.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		439/798	100368589	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100368589C>T	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.1317C>T	3.37:g.100368589C>T						GPR128_ENST00000475887.1_Silent_p.N144N	p.N439N	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN			11	1585	+			439					Q14D94|Q86SQ2	Silent	SNP	ENST00000273352.3	37	c.1317C>T	CCDS2938.1																																																																																				0.373	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			5	110	0	0	0	0.248553	0	5	110				
HLA-DQB2	3120	broad.mit.edu	37	6	32725567	32725567	+	Missense_Mutation	SNP	C	C	T	rs77504727		TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	db9ab0ec-cd1f-4e69-935e-8e1665d07473	g.chr6:32725567C>T	ENST00000437316.2	-	4	803	c.740G>A	c.(739-741)cGt>cAt	p.R247H	HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000435145.2_Missense_Mutation_p.R247H			P05538	DQB2_HUMAN	major histocompatibility complex, class II, DQ beta 2	251					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|B cell affinity maturation (GO:0002344)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of alpha-beta T cell activation (GO:0046635)|positive regulation of antigen processing and presentation (GO:0002579)|positive regulation of T-helper 1 type immune response (GO:0002827)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome (GO:0005769)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)|toxic substance binding (GO:0015643)			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						ACCCCTGTGACGGATGATAAG	0.552																																						ENST00000435145.2																			0				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						c.(739-741)cGt>cAt		major histocompatibility complex, class II, DQ beta 2																																				SO:0001583	missense	3120				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex		g.chr6:32725567C>T	M83890	CCDS56419.1	6p21.3	2013-01-11			ENSG00000232629	ENSG00000232629		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4945	protein-coding gene	gene with protein product		615161		HLA-DXB		2564844	Standard	NM_001198858		Approved		uc003oby.4	P05538	OTTHUMG00000031125	ENST00000437316.2:c.740G>A	6.37:g.32725567C>T	ENSP00000396330:p.Arg247His					HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.R247H	p.R247H			Q5SR06	Q5SR06_HUMAN			4	801	-			216					A6NIA5|Q29826|Q29870|Q29871|Q29872|Q29873|Q5SR06	Missense_Mutation	SNP	ENST00000437316.2	37	c.740G>A		.	.	.	.	.	.	.	.	.	.	.	0.003	-2.431383	0.00184	.	.	ENSG00000232629	ENST00000437316;ENST00000435145	T;T	0.00625	6.17;6.14	3.25	-3.63	0.04529	.	0.752796	0.12134	N	0.496536	T	0.00210	0.0006	.	.	.	0.09310	N	1	B	0.15141	0.012	B	0.09377	0.004	T	0.25502	-1.0130	9	0.41790	T	0.15	.	9.6955	0.40154	0.0:0.4123:0.0:0.5877	rs34134876	247	A2ADX3	.	H	247	ENSP00000396330:R247H;ENSP00000410512:R247H	ENSP00000410512:R247H	R	-	2	0	HLA-DQB2	32833545	0.000000	0.05858	0.008000	0.14137	0.015000	0.08874	-1.557000	0.02166	-0.833000	0.04245	-1.855000	0.00564	CGT		0.552	HLA-DQB2-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000076216.2			7	26	0	0	0	0.361761	0	7	26				
SIRT1	23411	broad.mit.edu	37	10	69676124	69676124	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	db9ab0ec-cd1f-4e69-935e-8e1665d07473	g.chr10:69676124G>A	ENST00000212015.6	+	9	2071	c.2018G>A	c.(2017-2019)aGt>aAt	p.S673N	SIRT1_ENST00000403579.1_Missense_Mutation_p.S370N|SIRT1_ENST00000406900.1_Missense_Mutation_p.S370N|SIRT1_ENST00000432464.1_Missense_Mutation_p.S378N	NM_012238.4	NP_036370.2	Q96EB6	SIR1_HUMAN	sirtuin 1	673					angiogenesis (GO:0001525)|cell aging (GO:0007569)|cellular glucose homeostasis (GO:0001678)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to starvation (GO:0009267)|cellular response to tumor necrosis factor (GO:0071356)|cellular triglyceride homeostasis (GO:0035356)|cholesterol homeostasis (GO:0042632)|chromatin organization (GO:0006325)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|establishment of chromatin silencing (GO:0006343)|fatty acid homeostasis (GO:0055089)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of chromatin silencing (GO:0006344)|methylation-dependent chromatin silencing (GO:0006346)|muscle organ development (GO:0007517)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of cell growth (GO:0030308)|negative regulation of cellular response to testosterone stimulus (GO:2000655)|negative regulation of cellular senescence (GO:2000773)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of helicase activity (GO:0051097)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of neuron death (GO:1901215)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostaglandin biosynthetic process (GO:0031393)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|ovulation from ovarian follicle (GO:0001542)|peptidyl-lysine acetylation (GO:0018394)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular senescence (GO:2000774)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of chromatin silencing (GO:0031937)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA repair (GO:0045739)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of macroautophagy (GO:0016239)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deacetylation (GO:0006476)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cell proliferation (GO:0042127)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle (GO:0007346)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of smooth muscle cell apoptotic process (GO:0034391)|response to hydrogen peroxide (GO:0042542)|response to insulin (GO:0032868)|response to oxidative stress (GO:0006979)|rRNA processing (GO:0006364)|single strand break repair (GO:0000012)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|triglyceride mobilization (GO:0006642)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|rDNA heterochromatin (GO:0033553)	bHLH transcription factor binding (GO:0043425)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase activity (GO:0004407)|HLH domain binding (GO:0043398)|identical protein binding (GO:0042802)|keratin filament binding (GO:1990254)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent protein deacetylase activity (GO:0034979)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						TCTTGTGGCAGTAACAGTGAT	0.413																																						ENST00000212015.6																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						c.(2017-2019)aGt>aAt		sirtuin 1							126.0	115.0	119.0					10																	69676124		2203	4300	6503	SO:0001583	missense	23411				apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding	g.chr10:69676124G>A	AF083106	CCDS7273.1, CCDS44412.1	10q21	2010-06-25	2010-06-25		ENSG00000096717	ENSG00000096717			14929	protein-coding gene	gene with protein product		604479	"""sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 1"", ""sirtuin (silent mating type information regulation 2 homolog) 1 (S. cerevisiae)"""			10381378	Standard	NM_012238		Approved	SIR2L1	uc001jnd.3	Q96EB6	OTTHUMG00000018340	ENST00000212015.6:c.2018G>A	10.37:g.69676124G>A	ENSP00000212015:p.Ser673Asn					SIRT1_ENST00000403579.1_Missense_Mutation_p.S370N|SIRT1_ENST00000406900.1_Missense_Mutation_p.S370N|SIRT1_ENST00000432464.1_Missense_Mutation_p.S378N	p.S673N	NM_012238.4	NP_036370.2	Q96EB6	SIRT1_HUMAN			9	2071	+			673					Q2XNF6|Q5JVQ0|Q9GZR9|Q9Y6F0	Missense_Mutation	SNP	ENST00000212015.6	37	c.2018G>A	CCDS7273.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.003478	0.93287	.	.	ENSG00000096717	ENST00000212015;ENST00000432464;ENST00000406900;ENST00000403579	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.98	5.98	0.97165	.	0.048663	0.85682	D	0.000000	T	0.55625	0.1932	L	0.61218	1.895	0.58432	D	0.999999	D;D	0.60575	0.976;0.988	P;P	0.54815	0.631;0.761	T	0.56878	-0.7906	10	0.72032	D	0.01	-16.2493	15.544	0.76081	0.0:0.1375:0.8625:0.0	.	370;673	B0QZ35;Q96EB6	.;SIRT1_HUMAN	N	673;378;370;370	ENSP00000212015:S673N;ENSP00000409208:S378N;ENSP00000384508:S370N;ENSP00000384063:S370N	ENSP00000212015:S673N	S	+	2	0	SIRT1	69346130	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.065000	0.76727	2.835000	0.97688	0.650000	0.86243	AGT		0.413	SIRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048296.1			3	87	0	0	0	0.115264	0	3	87				
AGPAT3	56894	broad.mit.edu	37	21	45379682	45379682	+	Silent	SNP	G	G	A	rs191570129		TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	db9ab0ec-cd1f-4e69-935e-8e1665d07473	g.chr21:45379682G>A	ENST00000398063.2	+	2	612	c.120G>A	c.(118-120)ccG>ccA	p.P40P	AGPAT3_ENST00000398061.1_Silent_p.P40P|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000398058.1_Silent_p.P40P|AGPAT3_ENST00000291572.8_Silent_p.P40P|AGPAT3_ENST00000546158.1_Silent_p.P40P|AGPAT3_ENST00000327505.2_Silent_p.P40P	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	40					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		CGCTCTGGCCGGTCAGCAAGC	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		16272	0.0		0.001	False		,,,				2504	0.0				Pancreas(60;623 1650 5574 52796)	ENST00000398063.2																			0				large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11						c.(118-120)ccG>ccA		1-acylglycerol-3-phosphate O-acyltransferase 3							69.0	51.0	58.0					21																	45379682		2203	4300	6503	SO:0001819	synonymous_variant	56894				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr21:45379682G>A	AF156774	CCDS13703.1	21q22.3	2013-02-05			ENSG00000160216	ENSG00000160216	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	326	protein-coding gene	gene with protein product		614794					Standard	XM_005261159		Approved	LPAAT-gamma	uc002zdw.3	Q9NRZ7	OTTHUMG00000086892	ENST00000398063.2:c.120G>A	21.37:g.45379682G>A						AGPAT3_ENST00000327505.2_Silent_p.P40P|AGPAT3_ENST00000291572.8_Silent_p.P40P|AGPAT3_ENST00000398058.1_Silent_p.P40P|AGPAT3_ENST00000546158.1_Silent_p.P40P|AGPAT3_ENST00000398061.1_Silent_p.P40P|AGPAT3_ENST00000479117.1_3'UTR	p.P40P	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN		STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)	2	612	+			40					D3DSL2|Q3ZCU2|Q6UWP6|Q6ZUC6|Q8N3Q7|Q9NRZ6	Silent	SNP	ENST00000398063.2	37	c.120G>A	CCDS13703.1																																																																																				0.647	AGPAT3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195722.1	NM_020132		4	59	0	0	0	0.150653	0	4	59				
SLC15A1	6564	broad.mit.edu	37	13	99354751	99354751	+	Silent	SNP	T	T	C	rs550700409	byFrequency	TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	db9ab0ec-cd1f-4e69-935e-8e1665d07473	g.chr13:99354751T>C	ENST00000376503.5	-	18	1504	c.1449A>G	c.(1447-1449)aaA>aaG	p.K483K		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	483					digestion (GO:0007586)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	peptide:proton symporter activity (GO:0015333)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Captopril(DB01197)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftizoxime(DB01332)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Enalapril(DB00584)|Fluvastatin(DB01095)|Fosinopril(DB00492)|Glyburide(DB01016)|L-DOPA(DB01235)|Lisinopril(DB00722)|Methyldopa(DB00968)|Midodrine(DB00211)|Moexipril(DB00691)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	CATTTTCCCCTTTTTCTGGCT	0.284													T|||	6	0.00119808	0.0	0.0	5008	,	,		18498	0.0		0.0	False		,,,				2504	0.0061					ENST00000376503.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1447-1449)aaA>aaG		solute carrier family 15 (oligopeptide transporter), member 1	Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)						61.0	68.0	65.0					13																	99354751		2201	4296	6497	SO:0001819	synonymous_variant	6564				digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity	g.chr13:99354751T>C	U13173	CCDS9489.1	13q32.3	2013-05-22			ENSG00000088386	ENSG00000088386		"""Solute carriers"""	10920	protein-coding gene	gene with protein product	"""peptide transporter HPEPT1"", ""bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1)"", ""solute carrier family 15 oligopeptide transporter member 1"""	600544				7896779	Standard	NM_005073		Approved	PEPT1, HPECT1, HPEPT1	uc001vno.3	P46059	OTTHUMG00000017255	ENST00000376503.5:c.1449A>G	13.37:g.99354751T>C							p.K483K	NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN			18	1504	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		483					Q5VW82	Silent	SNP	ENST00000376503.5	37	c.1449A>G	CCDS9489.1																																																																																				0.284	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045560.3	NM_005073		3	152	0	0	0	0.184627	0	3	152				
SUMO3	6612	broad.mit.edu	37	21	46233855	46233855	+	Silent	SNP	C	C	T			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	db9ab0ec-cd1f-4e69-935e-8e1665d07473	g.chr21:46233855C>T	ENST00000411651.2	-	2	298	c.186G>A	c.(184-186)gtG>gtA	p.V62V	SUMO3_ENST00000332859.6_Intron|SUMO3_ENST00000397893.3_Intron|SUMO3_ENST00000479153.1_Intron|SUMO3_ENST00000397898.3_Intron					small ubiquitin-like modifier 3											prostate(1)	1				Colorectal(79;0.058)		CCAGTGCGCACACGGGGAGGC	0.652																																						ENST00000411651.2																			0				prostate(1)	1						c.(184-186)gtG>gtA		small ubiquitin-like modifier 3							65.0	53.0	57.0					21																	46233855		2203	4300	6503	SO:0001819	synonymous_variant	6612				protein sumoylation	cytoplasm|kinetochore	protein binding	g.chr21:46233855C>T		CCDS33587.1, CCDS68220.1	21q22.3	2013-06-05	2013-06-05	2004-05-19	ENSG00000184900	ENSG00000184900			11124	protein-coding gene	gene with protein product		602231	"""SMT3 (suppressor of mif two 3, yeast) homolog 1"", ""SMT3 suppressor of mif two 3 homolog 3 (yeast)"", ""SMT3 suppressor of mif two 3 homolog 3 (S. cerevisiae)"""	SMT3H1		9119407	Standard	NM_006936		Approved	SMT3A	uc002zfz.1	P55854	OTTHUMG00000090256	ENST00000411651.2:c.186G>A	21.37:g.46233855C>T						SUMO3_ENST00000332859.6_Intron|SUMO3_ENST00000397898.3_Intron|SUMO3_ENST00000397893.3_Intron|SUMO3_ENST00000479153.1_Intron	p.V62V			P55854	SUMO3_HUMAN		Colorectal(79;0.058)	2	298	-			50			Ubiquitin-like.			Silent	SNP	ENST00000411651.2	37	c.186G>A																																																																																					0.652	SUMO3-201	KNOWN	basic	protein_coding	protein_coding				3	33	0	0	0	0.115264	0	3	33				
CCDC132	55610	broad.mit.edu	37	7	92883177	92883177	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	db9ab0ec-cd1f-4e69-935e-8e1665d07473	g.chr7:92883177T>G	ENST00000305866.5	+	4	358	c.230T>G	c.(229-231)cTt>cGt	p.L77R	CCDC132_ENST00000251739.5_Missense_Mutation_p.L77R|CCDC132_ENST00000317751.6_5'UTR|CCDC132_ENST00000541136.1_5'UTR|CCDC132_ENST00000544910.1_Missense_Mutation_p.L47R|CCDC132_ENST00000535481.1_Intron	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	77						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			CTGTAGAAGCTTCCACCTGTT	0.338																																						ENST00000544910.1																			0				endometrium(1)|large_intestine(2)|lung(5)	8						c.(139-141)cTt>cGt		coiled-coil domain containing 132							35.0	37.0	37.0					7																	92883177		2202	4299	6501	SO:0001583	missense	55610							g.chr7:92883177T>G	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.230T>G	7.37:g.92883177T>G	ENSP00000307666:p.Leu77Arg					CCDC132_ENST00000535481.1_Intron|CCDC132_ENST00000251739.5_Missense_Mutation_p.L77R|CCDC132_ENST00000541136.1_5'UTR|CCDC132_ENST00000317751.6_5'UTR|CCDC132_ENST00000305866.5_Missense_Mutation_p.L77R	p.L47R	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	360	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		77					B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	ENST00000305866.5	37	c.140T>G	CCDS43617.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.174231	0.78452	.	.	ENSG00000004766	ENST00000251739;ENST00000305866;ENST00000544910;ENST00000458530	.	.	.	4.46	4.46	0.54185	Vacuolar protein sorting-associated protein 54 (1);	0.000000	0.85682	D	0.000000	T	0.75882	0.3910	M	0.61703	1.905	0.80722	D	1	D;D;D	0.89917	0.998;0.999;1.0	D;D;D	0.87578	0.974;0.998;0.994	T	0.79127	-0.1931	9	0.87932	D	0	-9.4098	14.2161	0.65795	0.0:0.0:0.0:1.0	.	47;77;77	F5H5U7;Q96JG6;Q96JG6-2	.;CC132_HUMAN;.	R	77;77;47;76	.	ENSP00000251739:L77R	L	+	2	0	CCDC132	92721113	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	6.952000	0.75989	2.014000	0.59158	0.528000	0.53228	CTT		0.338	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		10	12	0	0	0	0.435327	0	10	12				
CP	1356	broad.mit.edu	37	3	148924112	148924112	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	db9ab0ec-cd1f-4e69-935e-8e1665d07473	g.chr3:148924112A>G	ENST00000264613.6	-	6	1313	c.1051T>C	c.(1051-1053)Ttt>Ctt	p.F351L		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	351	F5/8 type A 1.|Plastocyanin-like 2.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	ACCTGGAAAAAGGCTTGCAAA	0.433																																						ENST00000264613.6																			0				breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1051-1053)Ttt>Ctt		ceruloplasmin (ferroxidase)	Drotrecogin alfa(DB00055)						110.0	109.0	109.0					3																	148924112		2203	4300	6503	SO:0001583	missense	1356				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	g.chr3:148924112A>G	M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.1051T>C	3.37:g.148924112A>G	ENSP00000264613:p.Phe351Leu						p.F351L	NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		6	1313	-		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	351			F5/8 type A 1.|Plastocyanin-like 2.		Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	ENST00000264613.6	37	c.1051T>C	CCDS3141.1	.	.	.	.	.	.	.	.	.	.	A	6.550	0.469792	0.12461	.	.	ENSG00000047457	ENST00000264613;ENST00000494544	D;D	0.82081	-1.57;-1.57	5.81	5.81	0.92471	Cupredoxin (2);Multicopper oxidase, type 1 (1);	0.228465	0.46758	D	0.000267	T	0.63141	0.2486	N	0.12502	0.225	0.41867	D	0.990256	B;B;B;B	0.24258	0.045;0.045;0.045;0.1	B;B;B;B	0.26864	0.074;0.05;0.074;0.057	T	0.58858	-0.7562	10	0.07482	T	0.82	-28.9754	5.0512	0.14508	0.7516:0.0:0.0869:0.1615	.	351;351;351;351	A5PL27;A8K5A4;P00450;Q1L857	.;.;CERU_HUMAN;.	L	351;134	ENSP00000264613:F351L;ENSP00000420545:F134L	ENSP00000264613:F351L	F	-	1	0	CP	150406802	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.782000	0.55401	2.224000	0.72417	0.533000	0.62120	TTT		0.433	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096		3	140	0	0	0	0.184627	0	3	140				
SNCG	6623	broad.mit.edu	37	10	88718535	88718535	+	Silent	SNP	G	G	A			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	db9ab0ec-cd1f-4e69-935e-8e1665d07473	g.chr10:88718535G>A	ENST00000372017.3	+	1	123	c.81G>A	c.(79-81)acG>acA	p.T27T	SNCG_ENST00000348795.4_Silent_p.T27T|MMRN2_ENST00000372027.5_5'Flank	NM_003087.2	NP_003078.2	O76070	SYUG_HUMAN	synuclein, gamma (breast cancer-specific protein 1)	27	4 X 11 AA tandem repeats of [EGSA]-K-T-K- [EQ]-[GQ]-V-X(4).				adult locomotory behavior (GO:0008344)|aggressive behavior (GO:0002118)|cellular response to hydrostatic pressure (GO:0071464)|protein secretion (GO:0009306)|regulation of dopamine secretion (GO:0014059)|regulation of neurotransmitter secretion (GO:0046928)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				endometrium(1)|skin(1)	2						AGGGGGTGACGGAAGCAGCTG	0.597																																						ENST00000372017.3																			0				endometrium(1)|skin(1)	2						c.(79-81)acG>acA		synuclein, gamma (breast cancer-specific protein 1)							117.0	108.0	111.0					10																	88718535		2203	4300	6503	SO:0001819	synonymous_variant	6623					microtubule organizing center|perinuclear region of cytoplasm|spindle	protein binding	g.chr10:88718535G>A	AF044311	CCDS7380.1	10q23.2-q23.3	2006-06-28			ENSG00000173267	ENSG00000173267			11141	protein-coding gene	gene with protein product	"""synoretin"""	602998				9044857, 9700196	Standard	NM_003087		Approved	BCSG1, SR, persyn	uc001keb.2	O76070	OTTHUMG00000018656	ENST00000372017.3:c.81G>A	10.37:g.88718535G>A						SNCG_ENST00000348795.4_Silent_p.T27T	p.T27T	NM_003087.2	NP_003078.2	O76070	SYUG_HUMAN			1	123	+			27			4 X 11 AA tandem repeats of [EGSA]-K-T-K- [EQ]-[GQ]-V-X(4).		O15104|Q96P61	Silent	SNP	ENST00000372017.3	37	c.81G>A	CCDS7380.1																																																																																				0.597	SNCG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049167.1			3	69	0	0	0	0.217242	0	3	69				
FRG1B	284802	broad.mit.edu	37	20	29625947	29625947	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	db9ab0ec-cd1f-4e69-935e-8e1665d07473	g.chr20:29625947T>C	ENST00000278882.3	+	5	571	c.191T>C	c.(190-192)aTt>aCt	p.I64T	FRG1B_ENST00000358464.4_Missense_Mutation_p.I64T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I69T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	64								p.I64T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCAGATGCAATTGGACCAAGA	0.343																																						ENST00000278882.3																			4	Substitution - Missense(4)	p.I64T(4)	urinary_tract(2)|prostate(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(190-192)aTt>aCt																																						SO:0001583	missense	0							g.chr20:29625947T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.191T>C	20.37:g.29625947T>C	ENSP00000278882:p.Ile64Thr					FRG1B_ENST00000439954.2_Missense_Mutation_p.I69T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I64T	p.I64T							5	571	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.191T>C		.	.	.	.	.	.	.	.	.	.	t	11.16	1.557441	0.27827	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.53640	0.61	1.68	1.68	0.24146	.	0.048324	0.85682	N	0.000000	T	0.39279	0.1072	.	.	.	0.50313	D	0.999869	B	0.11235	0.004	B	0.30943	0.122	T	0.37549	-0.9701	9	0.62326	D	0.03	.	7.3757	0.26827	0.0:0.0:0.0:1.0	.	69	F5H5R5	.	T	64;69;64	ENSP00000408863:I69T	ENSP00000278882:I64T	I	+	2	0	FRG1B	28239608	1.000000	0.71417	0.998000	0.56505	0.053000	0.15095	6.623000	0.74238	1.028000	0.39785	0.155000	0.16302	ATT		0.343	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		3	86	0	0	0	0.184627	0	3	86				
STK19	8859	broad.mit.edu	37	6	31946702	31946702	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	db9ab0ec-cd1f-4e69-935e-8e1665d07473	g.chr6:31946702A>G	ENST00000375333.2	+	4	643	c.590A>G	c.(589-591)gAg>gGg	p.E197G	STK19_ENST00000375331.2_Missense_Mutation_p.E197G|STK19_ENST00000463823.1_3'UTR	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	197				QGE -> GQR (in Ref. 6; AAA99716). {ECO:0000305}.	protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						GAGCAGGGGGAGATCAGAATC	0.532																																						ENST00000375331.2																			0				skin(5)|upper_aerodigestive_tract(2)	7						c.(589-591)gAg>gGg		serine/threonine kinase 19							78.0	75.0	76.0					6																	31946702		1510	2708	4218	SO:0001583	missense	8859					nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:31946702A>G	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.590A>G	6.37:g.31946702A>G	ENSP00000364482:p.Glu197Gly					STK19_ENST00000375333.2_Missense_Mutation_p.E197G|STK19_ENST00000463823.1_3'UTR	p.E197G	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN			4	756	+			197	QGE -> GQR (in Ref. 6; AAA99716).				A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Missense_Mutation	SNP	ENST00000375333.2	37	c.590A>G	CCDS4733.1	.	.	.	.	.	.	.	.	.	.	A	18.56	3.649733	0.67358	.	.	ENSG00000204344	ENST00000375331;ENST00000375333	T;T	0.31510	1.49;1.49	4.86	4.86	0.63082	.	0.117044	0.56097	D	0.000032	T	0.36524	0.0970	L	0.56769	1.78	0.52501	D	0.999957	D;D;D;D	0.89917	0.999;0.988;1.0;0.979	D;P;D;P	0.79784	0.986;0.871;0.993;0.828	T	0.10847	-1.0612	10	0.30078	T	0.28	-30.8272	10.7592	0.46256	1.0:0.0:0.0:0.0	.	154;197;197;154	C9IZ87;P49842-2;P49842;B7ZLI8	.;.;STK19_HUMAN;.	G	197	ENSP00000364480:E197G;ENSP00000364482:E197G	ENSP00000364480:E197G	E	+	2	0	STK19	32054681	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.720000	0.54933	2.043000	0.60533	0.482000	0.46254	GAG		0.532	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3			3	66	0	0	0	0.115264	0	3	66				
TPST2	8459	broad.mit.edu	37	22	26937482	26937482	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	db9ab0ec-cd1f-4e69-935e-8e1665d07473	g.chr22:26937482G>C	ENST00000338754.4	-	3	385	c.115C>G	c.(115-117)Cgg>Ggg	p.R39G	TPST2_ENST00000398110.2_Missense_Mutation_p.R39G|TPST2_ENST00000403880.1_Missense_Mutation_p.R39G	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	39					fusion of sperm to egg plasma membrane (GO:0007342)|peptidyl-tyrosine sulfation (GO:0006478)|prevention of polyspermy (GO:0060468)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)			central_nervous_system(1)|large_intestine(1)|lung(5)	7						CGGGGGCTCCGCAGGCCCGCC	0.701																																						ENST00000338754.4																			0				central_nervous_system(1)|large_intestine(1)|lung(5)	7						c.(115-117)Cgg>Ggg		tyrosylprotein sulfotransferase 2							21.0	23.0	23.0					22																	26937482		2172	4222	6394	SO:0001583	missense	8459				peptidyl-tyrosine sulfation	endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity	g.chr22:26937482G>C	AF049891	CCDS13839.1	22q12.1	2012-12-13			ENSG00000128294	ENSG00000128294	2.8.2.20	"""Sulfotransferases, membrane-bound"""	12021	protein-coding gene	gene with protein product	"""transport and golgi organization 13 homolog B (Drosophila)"""	603126				9736702, 9733778	Standard	NM_003595		Approved	TANGO13B	uc003acx.3	O60704	OTTHUMG00000150987	ENST00000338754.4:c.115C>G	22.37:g.26937482G>C	ENSP00000339813:p.Arg39Gly					TPST2_ENST00000403880.1_Missense_Mutation_p.R39G|TPST2_ENST00000398110.2_Missense_Mutation_p.R39G	p.R39G	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN			3	385	-			39					B3KQA7|Q6FI98|Q9H0V4	Missense_Mutation	SNP	ENST00000338754.4	37	c.115C>G	CCDS13839.1	.	.	.	.	.	.	.	.	.	.	G	0.662	-0.805398	0.02819	.	.	ENSG00000128294	ENST00000338754;ENST00000398110;ENST00000403880;ENST00000442495;ENST00000454778;ENST00000440953;ENST00000453117;ENST00000450022	.	.	.	4.95	0.365	0.16131	.	0.551593	0.16246	N	0.222930	T	0.16938	0.0407	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.08911	-1.0699	9	0.25751	T	0.34	-12.3132	1.0557	0.01590	0.1894:0.1261:0.3501:0.3344	.	39	O60704	TPST2_HUMAN	G	39	.	ENSP00000339813:R39G	R	-	1	2	TPST2	25267482	0.001000	0.12720	0.136000	0.22124	0.067000	0.16453	0.547000	0.23299	1.095000	0.41419	-0.192000	0.12808	CGG		0.701	TPST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320820.3	NM_003595		3	41	0	0	0	0.115264	0	3	41				
ELP5	23587	broad.mit.edu	37	17	7155834	7155834	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	db9ab0ec-cd1f-4e69-935e-8e1665d07473	g.chr17:7155834G>C	ENST00000396628.2	+	1	230	c.13G>C	c.(13-15)Gag>Cag	p.E5Q	ELP5_ENST00000574255.1_Missense_Mutation_p.E5Q|ELP5_ENST00000396627.2_Missense_Mutation_p.E5Q|CTDNEP1_ENST00000574322.1_5'Flank|ELP5_ENST00000356683.2_Missense_Mutation_p.E5Q|ELP5_ENST00000573657.1_Missense_Mutation_p.E5Q|CTDNEP1_ENST00000573600.1_5'Flank|CTDNEP1_ENST00000318988.6_5'Flank|RP1-4G17.5_ENST00000577138.1_Intron|ELP5_ENST00000354429.2_Missense_Mutation_p.E5Q|ELP5_ENST00000574993.1_Missense_Mutation_p.E5Q|CTDNEP1_ENST00000572043.1_5'Flank	NM_203414.1	NP_981959.1	Q8TE02	ELP5_HUMAN	elongator acetyltransferase complex subunit 5	5					chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Elongator holoenzyme complex (GO:0033588)|nucleus (GO:0005634)											GACGCCATCAGAGGGCGCCAG	0.627																																						ENST00000574993.1																			0											c.(13-15)Gag>Cag		elongator acetyltransferase complex subunit 5							55.0	48.0	50.0					17																	7155834		2203	4299	6502	SO:0001583	missense	23587							g.chr17:7155834G>C	BC002762	CCDS11094.1, CCDS11095.1	17p13.1	2012-08-14	2012-08-08	2012-08-08	ENSG00000170291	ENSG00000170291		"""Elongator acetyltransferase complex subunits"""	30617	protein-coding gene	gene with protein product	"""dermal papilla derived protein 6"", ""S-phase 2 protein"""	615019	"""chromosome 17 open reading frame 81"""	C17orf81		22854966	Standard	NM_203415		Approved	DERP6	uc002gfi.1	Q8TE02	OTTHUMG00000177974	ENST00000396628.2:c.13G>C	17.37:g.7155834G>C	ENSP00000379869:p.Glu5Gln					ELP5_ENST00000573657.1_Missense_Mutation_p.E5Q|ELP5_ENST00000396628.2_Missense_Mutation_p.E5Q|ELP5_ENST00000396627.2_Missense_Mutation_p.E5Q|ELP5_ENST00000574255.1_Missense_Mutation_p.E5Q|ELP5_ENST00000356683.2_Missense_Mutation_p.E5Q|RP1-4G17.5_ENST00000577138.1_Intron|ELP5_ENST00000354429.2_Missense_Mutation_p.E5Q	p.E5Q							1	230	+								A8K1M5|D3DTN9|Q659B6|Q7Z2T4|Q8TDR9|Q9BUB2|Q9Y2Q4	Missense_Mutation	SNP	ENST00000396628.2	37	c.13G>C	CCDS11094.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.986957	0.74589	.	.	ENSG00000170291	ENST00000354429;ENST00000396628;ENST00000396627;ENST00000356683	T;T;T;T	0.54279	1.32;1.32;1.32;0.58	3.85	-0.696	0.11287	.	1.764160	0.03150	N	0.167802	T	0.35828	0.0945	N	0.24115	0.695	0.22656	N	0.998887	B;B;B;B	0.21520	0.007;0.057;0.022;0.002	B;B;B;B	0.16289	0.015;0.01;0.006;0.002	T	0.25745	-1.0123	10	0.62326	D	0.03	2.3874	1.9456	0.03356	0.1063:0.1729:0.3669:0.3539	.	5;5;5;5	Q8TE02-2;Q8TE02-3;A8K1M5;Q8TE02	.;.;.;DERP6_HUMAN	Q	5	ENSP00000346412:E5Q;ENSP00000379869:E5Q;ENSP00000379868:E5Q;ENSP00000349111:E5Q	ENSP00000346412:E5Q	E	+	1	0	C17orf81	7096558	0.889000	0.30405	0.841000	0.33234	0.056000	0.15407	-0.063000	0.11655	-0.064000	0.13043	0.637000	0.83480	GAG		0.627	ELP5-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440111.1	NM_015362		3	31	0	0	0	0.150653	0	3	31				
CCDC15	80071	broad.mit.edu	37	11	124857495	124857495	+	Missense_Mutation	SNP	A	A	C	rs113451248	byFrequency	TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	db9ab0ec-cd1f-4e69-935e-8e1665d07473	g.chr11:124857495A>C	ENST00000344762.5	+	8	1632	c.1373A>C	c.(1372-1374)cAc>cCc	p.H458P	CCDC15_ENST00000529051.1_Missense_Mutation_p.H458P	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	458						centrosome (GO:0005813)				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		CATGTTCTCCACAAAGACCAA	0.418													C|||	6	0.00119808	0.0008	0.0	5008	,	,		19182	0.005		0.0	False		,,,				2504	0.0					ENST00000529051.1																			0				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23						c.(1372-1374)cAc>cCc		coiled-coil domain containing 15		C	PRO/HIS	5,3679		0,5,1837	109.0	105.0	106.0		1373	-1.4	0.0	11	dbSNP_132	106	0,8170		0,0,4085	yes	missense	CCDC15	NM_025004.2	77	0,5,5922	CC,CA,AA		0.0,0.1357,0.0422	benign	458/952	124857495	5,11849	1842	4085	5927	SO:0001583	missense	80071					centrosome		g.chr11:124857495A>C	BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.1373A>C	11.37:g.124857495A>C	ENSP00000341684:p.His458Pro					CCDC15_ENST00000344762.5_Missense_Mutation_p.H458P	p.H458P			Q0P6D6	CCD15_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)	8	1632	+	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	458					Q9H8U7	Missense_Mutation	SNP	ENST00000344762.5	37	c.1373A>C	CCDS44756.1	5	0.0022893772893772895	0	0.0	0	0.0	5	0.008741258741258742	0	0.0	C	0.007	-1.935858	0.00484	0.001357	0.0	ENSG00000149548	ENST00000529051;ENST00000344762	T;T	0.29142	1.6;1.58	3.32	-1.4	0.08968	.	.	.	.	.	T	0.04272	0.0118	N	0.00841	-1.15	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29882	-0.9997	9	0.02654	T	1	0.0636	3.381	0.07255	0.5595:0.2054:0.1382:0.0969	.	458	Q0P6D6	CCD15_HUMAN	P	458	ENSP00000435403:H458P;ENSP00000341684:H458P	ENSP00000341684:H458P	H	+	2	0	CCDC15	124362705	.	.	0.000000	0.03702	0.085000	0.17905	.	.	-0.576000	0.05974	-0.215000	0.12644	CAC		0.418	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	NM_025004		3	106	0	0	0	0.115264	0	3	106				
LHX1	3975	broad.mit.edu	37	17	35297661	35297661	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	db9ab0ec-cd1f-4e69-935e-8e1665d07473	g.chr17:35297661A>T	ENST00000254457.5	+	2	1656	c.245A>T	c.(244-246)aAa>aTa	p.K82I	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	82	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell signaling (GO:0007267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|cerebellum development (GO:0021549)|cervix development (GO:0060067)|comma-shaped body morphogenesis (GO:0072049)|dorsal/ventral pattern formation (GO:0009953)|ectoderm formation (GO:0001705)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|embryonic viscerocranium morphogenesis (GO:0048703)|endoderm formation (GO:0001706)|epithelium development (GO:0060429)|forebrain regionalization (GO:0021871)|gastrulation with mouth forming second (GO:0001702)|head development (GO:0060322)|horizontal cell localization (GO:0035852)|kidney development (GO:0001822)|lateral motor column neuron migration (GO:0097477)|mesonephric duct development (GO:0072177)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerulus development (GO:0072224)|metanephric part of ureteric bud development (GO:0035502)|metanephric renal vesicle morphogenesis (GO:0072283)|metanephric S-shaped body morphogenesis (GO:0072284)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct elongation (GO:0035849)|nephric duct morphogenesis (GO:0072178)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|oviduct development (GO:0060066)|oviduct epithelium development (GO:0035846)|paramesonephric duct development (GO:0061205)|pattern specification process (GO:0007389)|positive regulation of anterior head development (GO:2000744)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primitive streak formation (GO:0090009)|pronephros development (GO:0048793)|regulation of gene expression (GO:0010468)|renal vesicle morphogenesis (GO:0072077)|retina layer formation (GO:0010842)|S-shaped body morphogenesis (GO:0072050)|somite rostral/caudal axis specification (GO:0032525)|spinal cord association neuron differentiation (GO:0021527)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)|uterine epithelium development (GO:0035847)|uterus development (GO:0060065)|vagina development (GO:0060068)|ventral spinal cord development (GO:0021517)	nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				GCGCGGAGCAAAGTGTTTCAC	0.587																																						ENST00000254457.5																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						c.(244-246)aAa>aTa		LIM homeobox 1							70.0	58.0	62.0					17																	35297661		2203	4300	6503	SO:0001583	missense	3975				cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr17:35297661A>T	U14755	CCDS11316.1	17q12	2014-04-11			ENSG00000132130	ENSG00000273706		"""Homeoboxes / LIM class"""	6593	protein-coding gene	gene with protein product		601999				9212161	Standard	NM_005568		Approved	LIM-1, LIM1	uc002hnh.2	P48742	OTTHUMG00000188456	ENST00000254457.5:c.245A>T	17.37:g.35297661A>T	ENSP00000254457:p.Lys82Ile					RP11-445F12.2_ENST00000607336.1_RNA	p.K82I	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN			2	1656	+		Breast(25;0.00607)	82			LIM zinc-binding 2.		Q3MIW0	Missense_Mutation	SNP	ENST00000254457.5	37	c.245A>T	CCDS11316.1	.	.	.	.	.	.	.	.	.	.	A	16.06	3.016246	0.54468	.	.	ENSG00000132130	ENST00000254457	D	0.89617	-2.54	4.05	4.05	0.47172	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.95101	0.8413	M	0.93375	3.41	0.80722	D	1	D	0.67145	0.996	D	0.68621	0.959	D	0.94846	0.8009	10	0.33141	T	0.24	.	14.0485	0.64719	1.0:0.0:0.0:0.0	.	82	P48742	LHX1_HUMAN	I	82	ENSP00000254457:K82I	ENSP00000254457:K82I	K	+	2	0	LHX1	32371774	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.310000	0.78947	2.064000	0.61679	0.459000	0.35465	AAA		0.587	LHX1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256704.3	NM_005568		3	21	0	0	0	0.115264	0	3	21				
ATP1A2	477	broad.mit.edu	37	1	160098456	160098456	+	Silent	SNP	G	G	C			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	db9ab0ec-cd1f-4e69-935e-8e1665d07473	g.chr1:160098456G>C	ENST00000361216.3	+	9	1121	c.1032G>C	c.(1030-1032)ctG>ctC	p.L344L	ATP1A2_ENST00000392233.3_Silent_p.L344L	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	344					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GCCTGACCCTGACAGCCAAGC	0.572																																						ENST00000361216.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69						c.(1030-1032)ctG>ctC		ATPase, Na+/K+ transporting, alpha 2 polypeptide							83.0	77.0	79.0					1																	160098456		2203	4300	6503	SO:0001819	synonymous_variant	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160098456G>C	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.1032G>C	1.37:g.160098456G>C						ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Silent_p.L344L	p.L344L	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		9	1121	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		344					D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Silent	SNP	ENST00000361216.3	37	c.1032G>C	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	G	8.661	0.900587	0.17686	.	.	ENSG00000018625	ENST00000447527	.	.	.	4.77	3.86	0.44501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0569	0.53540	0.0858:0.0:0.9142:0.0	.	.	.	.	S	55	.	.	X	+	2	2	ATP1A2	158365080	0.990000	0.36364	1.000000	0.80357	0.929000	0.56500	0.128000	0.15810	1.141000	0.42275	0.561000	0.74099	TGA		0.572	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		4	86	0	0	0	0.248553	0	4	86				
TSHZ3	57616	broad.mit.edu	37	19	31770237	31770237	+	Silent	SNP	A	A	G			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	db9ab0ec-cd1f-4e69-935e-8e1665d07473	g.chr19:31770237A>G	ENST00000240587.4	-	2	789	c.462T>C	c.(460-462)agT>agC	p.S154S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	154	Ser-rich.				in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					tgctgctgctactgctgctgc	0.607																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(460-462)agT>agC		teashirt zinc finger homeobox 3							39.0	44.0	42.0					19																	31770237		2184	4294	6478	SO:0001819	synonymous_variant	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31770237A>G	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.462T>C	19.37:g.31770237A>G							p.S154S	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	789	-	Esophageal squamous(110;0.226)		154			Ser-rich.		Q9H0G6|Q9P254	Silent	SNP	ENST00000240587.4	37	c.462T>C	CCDS12421.2																																																																																				0.607	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		3	18	0	0	0	0.115264	0	3	18				
FAT2	2196	broad.mit.edu	37	5	150922048	150922048	+	Silent	SNP	G	G	A			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	db9ab0ec-cd1f-4e69-935e-8e1665d07473	g.chr5:150922048G>A	ENST00000261800.5	-	9	8652	c.8640C>T	c.(8638-8640)caC>caT	p.H2880H		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2880	Cadherin 25. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGTCTGTCCGTGGTCATAGG	0.493																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(8638-8640)caC>caT		FAT atypical cadherin 2							163.0	153.0	157.0					5																	150922048		2203	4300	6503	SO:0001819	synonymous_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150922048G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.8640C>T	5.37:g.150922048G>A							p.H2880H	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	8652	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	2880			Cadherin 25.		O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	c.8640C>T	CCDS4317.1																																																																																				0.493	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		4	144	0	0	0	0.184627	0	4	144				
ANKRD30A	91074	broad.mit.edu	37	10	37431050	37431050	+	Missense_Mutation	SNP	G	G	C	rs201391167		TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	db9ab0ec-cd1f-4e69-935e-8e1665d07473	g.chr10:37431050G>C	ENST00000602533.1	+	7	1156	c.1057G>C	c.(1057-1059)Gca>Cca	p.A353P	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.A353P|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A353P			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	409					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A353P(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATTTACGTGGGCAGCAAAAGG	0.408																																						ENST00000374660.1																			1	Substitution - Missense(1)	p.A353P(1)	lung(1)	NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(1057-1059)Gca>Cca		ankyrin repeat domain 30A							102.0	102.0	102.0					10																	37431050		1853	4086	5939	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37431050G>C	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1057G>C	10.37:g.37431050G>C	ENSP00000473551:p.Ala353Pro					ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A353P|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.A353P	p.A353P			Q9BXX3	AN30A_HUMAN			7	1156	+			409					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.1057G>C		.	.	.	.	.	.	.	.	.	.	.	2.178	-0.388156	0.04932	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.39592	1.19;1.07	.	.	.	.	.	.	.	.	T	0.28300	0.0699	N	0.08118	0	0.09310	N	1	P	0.48350	0.909	P	0.51297	0.665	T	0.16188	-1.0411	7	0.33141	T	0.24	.	.	.	.	.	409	Q9BXX3	AN30A_HUMAN	P	353	ENSP00000354432:A353P;ENSP00000363792:A353P	ENSP00000354432:A353P	A	+	1	0	ANKRD30A	37471056	0.782000	0.28689	0.179000	0.23059	0.179000	0.23085	-0.616000	0.05591	0.088000	0.17205	0.089000	0.15464	GCA		0.408	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		3	74	0	0	0	0.150653	0	3	74				
ANK2	287	broad.mit.edu	37	4	114277273	114277273	+	Missense_Mutation	SNP	C	C	T	rs200377748		TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	db9ab0ec-cd1f-4e69-935e-8e1665d07473	g.chr4:114277273C>T	ENST00000357077.4	+	38	7552	c.7499C>T	c.(7498-7500)aCg>aTg	p.T2500M	ANK2_ENST00000264366.6_Missense_Mutation_p.T2467M|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2500					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GAACTCTTGACGGAAGTGGCC	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		19609	0.001		0.0	False		,,,				2504	0.0					ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(7498-7500)aCg>aTg		ankyrin 2, neuronal							71.0	73.0	72.0					4																	114277273		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114277273C>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.7499C>T	4.37:g.114277273C>T	ENSP00000349588:p.Thr2500Met					ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.T2467M|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron	p.T2500M	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	7552	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	2467					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.7499C>T	CCDS3702.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	0.922	-0.715618	0.03206	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.67345	-0.25;-0.26	5.99	4.25	0.50352	.	0.891322	0.09615	N	0.778311	T	0.70945	0.3282	L	0.53249	1.67	0.32150	N	0.584359	D;B	0.54772	0.968;0.008	P;B	0.47528	0.549;0.003	T	0.71122	-0.4684	9	.	.	.	.	17.5385	0.87840	0.0:0.9332:0.0:0.0668	.	2467;2500	Q01484;Q01484-4	ANK2_HUMAN;.	M	2500;2467	ENSP00000349588:T2500M;ENSP00000264366:T2467M	.	T	+	2	0	ANK2	114496722	0.006000	0.16342	0.001000	0.08648	0.030000	0.12068	2.038000	0.41184	0.855000	0.35359	-1.063000	0.02288	ACG		0.532	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		13	91	0	0	0	0.435327	0	13	91				
CSPG4	1464	broad.mit.edu	37	15	75982728	75982728	+	Silent	SNP	T	T	C			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	db9ab0ec-cd1f-4e69-935e-8e1665d07473	g.chr15:75982728T>C	ENST00000308508.5	-	3	770	c.678A>G	c.(676-678)ctA>ctG	p.L226L		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	226	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GTGTAAACTCTAGGGTTCCTT	0.607																																						ENST00000308508.5																			0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(676-678)ctA>ctG		chondroitin sulfate proteoglycan 4							20.0	22.0	21.0					15																	75982728		2187	4271	6458	SO:0001819	synonymous_variant	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75982728T>C	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.678A>G	15.37:g.75982728T>C							p.L226L	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN			3	770	-			226			Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2.|Neurite growth inhibition (By similarity).		D3DW77|Q92675	Silent	SNP	ENST00000308508.5	37	c.678A>G	CCDS10284.1																																																																																				0.607	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		3	24	0	0	0	0.184627	0	3	24				
CELSR1	9620	broad.mit.edu	37	22	46785281	46785281	+	Missense_Mutation	SNP	C	C	A	rs201324896		TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	db9ab0ec-cd1f-4e69-935e-8e1665d07473	g.chr22:46785281C>A	ENST00000262738.3	-	18	6460	c.6461G>T	c.(6460-6462)cGc>cTc	p.R2154L		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2154					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GTAGGCCGTGCGCACGTCATT	0.672																																						ENST00000262738.3																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(6460-6462)cGc>cTc		cadherin, EGF LAG seven-pass G-type receptor 1							43.0	36.0	39.0					22																	46785281		2203	4299	6502	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46785281C>A	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.6461G>T	22.37:g.46785281C>A	ENSP00000262738:p.Arg2154Leu						p.R2154L	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	18	6460	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	2154					O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.6461G>T	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.466069	0.63625	.	.	ENSG00000075275	ENST00000262738	T	0.07908	3.15	4.99	3.96	0.45880	Domain of unknown function DUF3497 (1);	0.164522	0.34531	U	0.003884	T	0.25754	0.0627	M	0.76002	2.32	0.80722	D	1	D;D	0.89917	1.0;0.99	D;P	0.79784	0.993;0.866	T	0.05869	-1.0859	10	0.19147	T	0.46	.	14.2812	0.66213	0.1503:0.8497:0.0:0.0	.	475;2154	B7Z7U7;Q9NYQ6	.;CELR1_HUMAN	L	2154	ENSP00000262738:R2154L	ENSP00000262738:R2154L	R	-	2	0	CELSR1	45163945	1.000000	0.71417	0.968000	0.41197	0.878000	0.50629	3.525000	0.53502	1.078000	0.41014	0.655000	0.94253	CGC		0.672	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		3	38	1	0	0.115264	0.115264	0.119875	3	38				
CASKIN1	57524	broad.mit.edu	37	16	2233835	2233835	+	Silent	SNP	G	G	A	rs374360460		TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	db9ab0ec-cd1f-4e69-935e-8e1665d07473	g.chr16:2233835G>A	ENST00000343516.6	-	15	1616	c.1524C>T	c.(1522-1524)ccC>ccT	p.P508P	CASKIN1_ENST00000564289.1_Intron	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	508	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						AGCTCACCTCGGGAGTCATGC	0.667																																						ENST00000343516.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						c.(1522-1524)ccC>ccT		CASK interacting protein 1							38.0	48.0	45.0					16																	2233835		2173	4279	6452	SO:0001819	synonymous_variant	57524				signal transduction	cytoplasm		g.chr16:2233835G>A	AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.1524C>T	16.37:g.2233835G>A						CASKIN1_ENST00000564289.1_Intron	p.P508P	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN			15	1616	-			508			SAM 1.		Q9P2P0	Silent	SNP	ENST00000343516.6	37	c.1524C>T	CCDS42103.1																																																																																				0.667	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435055.1	NM_020764		3	86	0	0	0	0.150653	0	3	86				
ANKAR	150709	broad.mit.edu	37	2	190584454	190584454	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	db9ab0ec-cd1f-4e69-935e-8e1665d07473	g.chr2:190584454G>A	ENST00000520309.1	+	11	2469	c.2381G>A	c.(2380-2382)tGt>tAt	p.C794Y	ANKAR_ENST00000431575.2_Missense_Mutation_p.C723Y|ANKAR_ENST00000313581.4_Missense_Mutation_p.C794Y|ANKAR_ENST00000281412.6_Missense_Mutation_p.C558Y|ANKAR_ENST00000438402.2_Missense_Mutation_p.C794Y	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	794						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			CTACTGGTTTGTGATGAGCCT	0.398																																						ENST00000520309.1																			0				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46						c.(2380-2382)tGt>tAt		ankyrin and armadillo repeat containing							138.0	121.0	127.0					2																	190584454		2203	4300	6503	SO:0001583	missense	150709					integral to membrane	binding	g.chr2:190584454G>A	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.2381G>A	2.37:g.190584454G>A	ENSP00000427882:p.Cys794Tyr					ANKAR_ENST00000313581.4_Missense_Mutation_p.C794Y|ANKAR_ENST00000431575.2_Missense_Mutation_p.C723Y|ANKAR_ENST00000281412.6_Missense_Mutation_p.C558Y|ANKAR_ENST00000438402.2_Missense_Mutation_p.C794Y	p.C794Y	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		11	2469	+			794					Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	ENST00000520309.1	37	c.2381G>A	CCDS33351.2	.	.	.	.	.	.	.	.	.	.	G	3.373	-0.127930	0.06753	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000438402;ENST00000431575;ENST00000281412	T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58	5.31	-0.157	0.13387	.	0.485745	0.19488	N	0.113042	T	0.09468	0.0233	N	0.03608	-0.345	0.09310	N	1	.	.	.	.	.	.	T	0.25745	-1.0123	8	0.19147	T	0.46	-4.9475	3.8457	0.08934	0.1989:0.5388:0.1223:0.1401	.	.	.	.	Y	794;794;794;723;558	ENSP00000427882:C794Y;ENSP00000313513:C794Y;ENSP00000397243:C794Y;ENSP00000393043:C723Y;ENSP00000281412:C558Y	ENSP00000281412:C558Y	C	+	2	0	ANKAR	190292699	0.090000	0.21635	0.001000	0.08648	0.056000	0.15407	0.984000	0.29565	-0.014000	0.14175	-0.878000	0.02970	TGT		0.398	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		23	41	0	0	0	0.654019	0	23	41				
ARHGEF10L	55160	broad.mit.edu	37	1	17953976	17953976	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	db9ab0ec-cd1f-4e69-935e-8e1665d07473	g.chr1:17953976G>T	ENST00000361221.3	+	15	1721	c.1562G>T	c.(1561-1563)aGt>aTt	p.S521I	ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.S521I|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.S229I|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.S482I|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.S299I|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.S482I|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.S279I|ARHGEF10L_ENST00000469726.1_3'UTR	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	521						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		AAGAGCGTCAGTGACCGCAGC	0.667																																						ENST00000361221.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(1561-1563)aGt>aTt		Rho guanine nucleotide exchange factor (GEF) 10-like							44.0	37.0	39.0					1																	17953976		2202	4300	6502	SO:0001583	missense	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:17953976G>T	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.1562G>T	1.37:g.17953976G>T	ENSP00000355060:p.Ser521Ile					ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.S229I|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.S279I|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.S299I|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.S482I|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.S482I|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.S521I	p.S521I	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	15	1721	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	521					B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	ENST00000361221.3	37	c.1562G>T	CCDS182.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.421329	0.62622	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000434513;ENST00000375415;ENST00000375420;ENST00000375408;ENST00000457829;ENST00000167825	T;T;T;T;T;T;T	0.62364	0.36;0.38;0.21;0.38;0.03;0.11;2.32	5.14	4.23	0.50019	.	0.000000	0.85682	D	0.000000	T	0.74801	0.3764	M	0.63843	1.955	0.37180	D	0.903476	D;D;D;D;D;D;D;D	0.89917	0.999;0.997;0.999;1.0;0.999;0.999;1.0;0.999	D;D;D;D;D;D;D;D	0.76575	0.969;0.929;0.983;0.988;0.969;0.986;0.988;0.972	T	0.80567	-0.1325	10	0.72032	D	0.01	-20.4585	12.3647	0.55222	0.0823:0.0:0.9177:0.0	.	299;279;521;229;287;482;482;521	Q5VXI4;B4DTE2;Q9HCE6-5;Q9HCE6-4;B3KX74;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;.;.;.;.;ARGAL_HUMAN	I	521;482;521;482;279;299;299;229	ENSP00000355060:S521I;ENSP00000399401:S482I;ENSP00000394621:S521I;ENSP00000364564:S482I;ENSP00000364569:S279I;ENSP00000364557:S299I;ENSP00000167825:S229I	ENSP00000167825:S229I	S	+	2	0	ARHGEF10L	17826563	1.000000	0.71417	0.964000	0.40570	0.483000	0.33249	7.357000	0.79456	1.386000	0.46466	0.462000	0.41574	AGT		0.667	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		3	29	1	0	0.00024832	0.150653	0.000274737	3	29				
LENG8	114823	broad.mit.edu	37	19	54969308	54969308	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	db9ab0ec-cd1f-4e69-935e-8e1665d07473	g.chr19:54969308C>G	ENST00000326764.5	+	14	2408	c.1929C>G	c.(1927-1929)tgC>tgG	p.C643W	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	606										breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		TTAACCAGTGCCAGACGCAGC	0.572																																						ENST00000326764.5																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(1927-1929)tgC>tgG		leukocyte receptor cluster (LRC) member 8							104.0	100.0	101.0					19																	54969308		2203	4300	6503	SO:0001583	missense	114823						protein binding	g.chr19:54969308C>G	AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615			15500	protein-coding gene	gene with protein product						10941842	Standard	XM_005278248		Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548	ENST00000326764.5:c.1929C>G	19.37:g.54969308C>G	ENSP00000318374:p.Cys643Trp					LENG8_ENST00000376514.2_Intron	p.C643W	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN		GBM - Glioblastoma multiforme(193;0.139)	14	2408	+	Ovarian(34;0.19)		606					B0VJY9|Q8IZ27|Q8NCX6	Missense_Mutation	SNP	ENST00000326764.5	37	c.1929C>G	CCDS12894.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.339571	0.60963	.	.	ENSG00000167615	ENST00000326764;ENST00000301196;ENST00000376526;ENST00000431846	T;T;T	0.36878	1.23;1.23;1.23	5.16	1.9	0.25705	.	0.000000	0.85682	D	0.000000	T	0.63628	0.2527	M	0.92649	3.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.65487	-0.6156	10	0.87932	D	0	-55.1587	8.4873	0.33078	0.0:0.7421:0.0:0.2579	.	643;606	Q96PV6-2;F8W9Q9	.;.	W	643;606;606;643	ENSP00000318374:C643W;ENSP00000365709:C606W;ENSP00000388053:C643W	ENSP00000301196:C606W	C	+	3	2	LENG8	59661120	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.098000	0.41757	0.296000	0.22592	0.561000	0.74099	TGC		0.572	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140523.2	NM_052925		13	123	0	0	0	0.557998	0	13	123				
SGK3	23678	broad.mit.edu	37	8	67705990	67705990	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	db9ab0ec-cd1f-4e69-935e-8e1665d07473	g.chr8:67705990A>G	ENST00000396596.1	+	2	233	c.19A>G	c.(19-21)Atg>Gtg	p.M7V	SGK3_ENST00000345714.4_Missense_Mutation_p.M7V|C8orf44-SGK3_ENST00000519289.1_Missense_Mutation_p.M7V|SGK3_ENST00000520976.1_Missense_Mutation_p.M7V|SGK3_ENST00000522398.1_Missense_Mutation_p.M7V|SGK3_ENST00000521198.2_Missense_Mutation_p.M7V|C8orf44-SGK3_ENST00000520044.1_3'UTR	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	7					ion transmembrane transport (GO:0034220)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to stress (GO:0006950)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|phosphatidylinositol binding (GO:0035091)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			AGATCACACCATGGACTACAA	0.403																																						ENST00000396596.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18						c.(19-21)Atg>Gtg		serum/glucocorticoid regulated kinase family, member 3							81.0	73.0	76.0					8																	67705990		2203	4300	6503	SO:0001583	missense	23678				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity	g.chr8:67705990A>G		CCDS6195.1, CCDS6196.1	8q12	2008-07-28	2005-09-13	2005-09-13		ENSG00000104205			10812	protein-coding gene	gene with protein product		607591	"""serum/glucocorticoid regulated kinase-like"""	SGK2, SGKL		10585774, 10548550	Standard	NM_013257		Approved		uc003xwr.3	Q96BR1		ENST00000396596.1:c.19A>G	8.37:g.67705990A>G	ENSP00000379842:p.Met7Val					SGK3_ENST00000345714.4_Missense_Mutation_p.M7V|SGK3_ENST00000521198.2_Missense_Mutation_p.M7V|C8orf44-SGK3_ENST00000520044.1_3'UTR|C8orf44-SGK3_ENST00000519289.1_Missense_Mutation_p.M7V|SGK3_ENST00000522398.1_Missense_Mutation_p.M7V|SGK3_ENST00000520976.1_Missense_Mutation_p.M7V	p.M7V	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)		2	233	+	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	7					A8K5W3|B3KQC2|Q9P1Q7|Q9UKG5	Missense_Mutation	SNP	ENST00000396596.1	37	c.19A>G	CCDS6195.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.573855	0.86542	.	.	ENSG00000104205	ENST00000519289;ENST00000521198;ENST00000262211;ENST00000522398;ENST00000522629;ENST00000520976;ENST00000396596;ENST00000518388;ENST00000345714	T;T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;0.27;-0.4;-0.4	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.71230	0.3315	N	0.24115	0.695	0.39262	D	0.964230	P;P	0.43578	0.811;0.779	P;B	0.60789	0.879;0.262	T	0.76647	-0.2882	9	0.66056	D	0.02	.	15.6094	0.76704	1.0:0.0:0.0:0.0	.	7;7	Q96BR1-2;Q96BR1	.;SGK3_HUMAN	V	7	ENSP00000429022:M7V;ENSP00000430463:M7V;ENSP00000430256:M7V;ENSP00000430691:M7V;ENSP00000379842:M7V;ENSP00000331816:M7V	ENSP00000262211:M7V	M	+	1	0	SGK3	67868544	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.493000	0.81493	2.326000	0.78906	0.528000	0.53228	ATG		0.403	SGK3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379232.3			16	27	0	0	0	0.608945	0	16	27				
SCNN1G	6340	broad.mit.edu	37	16	23200962	23200962	+	Missense_Mutation	SNP	C	C	G	rs372209300		TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	db9ab0ec-cd1f-4e69-935e-8e1665d07473	g.chr16:23200962C>G	ENST00000300061.2	+	3	731	c.588C>G	c.(586-588)atC>atG	p.I196M		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	196					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)|WW domain binding (GO:0050699)			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TCATGCACATCGAGTCCAAGC	0.517																																						ENST00000300061.2																			0				NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34						c.(586-588)atC>atG		sodium channel, non-voltage-gated 1, gamma subunit	Amiloride(DB00594)|Triamterene(DB00384)						174.0	171.0	172.0					16																	23200962		2197	4300	6497	SO:0001583	missense	6340				excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23200962C>G	U48937	CCDS10608.1	16p12	2012-02-28	2012-02-28		ENSG00000166828	ENSG00000166828		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10602	protein-coding gene	gene with protein product		600761	"""sodium channel, nonvoltage-gated 1, gamma"", ""sodium channel, non-voltage-gated 1, gamma"""			7490094	Standard	NM_001039		Approved	ENaCgamma, SCNEG	uc002dlm.1	P51170	OTTHUMG00000131609	ENST00000300061.2:c.588C>G	16.37:g.23200962C>G	ENSP00000300061:p.Ile196Met						p.I196M	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN		GBM - Glioblastoma multiforme(48;0.0366)	3	731	+			196					P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	Missense_Mutation	SNP	ENST00000300061.2	37	c.588C>G	CCDS10608.1	.	.	.	.	.	.	.	.	.	.	C	4.715	0.132882	0.09032	.	.	ENSG00000166828	ENST00000300061	T	0.70631	-0.5	5.75	1.18	0.20946	.	0.796461	0.11179	N	0.591151	T	0.47322	0.1439	N	0.08118	0	0.09310	N	1	B	0.17268	0.021	B	0.20184	0.028	T	0.36792	-0.9733	10	0.46703	T	0.11	-23.2415	5.7057	0.17907	0.0:0.2899:0.4134:0.2966	.	196	P51170	SCNNG_HUMAN	M	196	ENSP00000300061:I196M	ENSP00000300061:I196M	I	+	3	3	SCNN1G	23108463	0.001000	0.12720	0.061000	0.19648	0.432000	0.31715	-1.436000	0.02421	0.289000	0.22422	0.511000	0.50034	ATC		0.517	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254496.1	NM_001039		5	284	0	0	0	0.217242	0	5	284				
ANGPTL5	253935	broad.mit.edu	37	11	101775573	101775573	+	Silent	SNP	A	A	G			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	db9ab0ec-cd1f-4e69-935e-8e1665d07473	g.chr11:101775573A>G	ENST00000334289.3	-	5	1006	c.411T>C	c.(409-411)ccT>ccC	p.P137P		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	137						extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		TGTGAGGAAAAGGATCCAGCT	0.358																																						ENST00000334289.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29						c.(409-411)ccT>ccC		angiopoietin-like 5							97.0	101.0	99.0					11																	101775573		2203	4299	6502	SO:0001819	synonymous_variant	253935				signal transduction	extracellular space	receptor binding	g.chr11:101775573A>G	BC049170	CCDS8312.1	11q22.2	2013-02-06				ENSG00000187151		"""Fibrinogen C domain containing"""	19705	protein-coding gene	gene with protein product		607666				12624729	Standard	NM_178127		Approved		uc001pgl.3	Q86XS5		ENST00000334289.3:c.411T>C	11.37:g.101775573A>G							p.P137P	NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0328)	5	1006	-		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)	137					A8K658|Q86VR9	Silent	SNP	ENST00000334289.3	37	c.411T>C	CCDS8312.1																																																																																				0.358	ANGPTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394138.1	NM_178127		3	72	0	0	0	0.184627	0	3	72				
KRT17P7	339258	broad.mit.edu	37	17	20424245	20424245	+	RNA	SNP	C	C	T			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	db9ab0ec-cd1f-4e69-935e-8e1665d07473	g.chr17:20424245C>T	ENST00000582261.1	-	0	1810																											GCTCCAGCTGCGTCTTCACGT	0.632																																						ENST00000582261.1																			0																																																			0							g.chr17:20424245C>T																													17.37:g.20424245C>T														0	1810	-									RNA	SNP	ENST00000582261.1	37																																																																																						0.632	AC015818.3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000443767.1			3	5	0	0	0	0.184627	0	3	5				
SEMA3A	10371	broad.mit.edu	37	7	83640389	83640389	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	db9ab0ec-cd1f-4e69-935e-8e1665d07473	g.chr7:83640389T>G	ENST00000265362.4	-	9	1258	c.944A>C	c.(943-945)aAc>aCc	p.N315T	SEMA3A_ENST00000436949.1_Missense_Mutation_p.N315T	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	315	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						ATCTTTAAAGTTCATTAGGAA	0.299																																						ENST00000265362.3																			0				breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(943-945)aAc>aCc		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A							60.0	64.0	62.0					7																	83640389		2202	4300	6502	SO:0001583	missense	10371				axon guidance	extracellular region|membrane	receptor activity	g.chr7:83640389T>G	L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.944A>C	7.37:g.83640389T>G	ENSP00000265362:p.Asn315Thr					SEMA3A_ENST00000436949.1_Missense_Mutation_p.N315T	p.N315T	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN			9	1258	-			315			Sema.			Missense_Mutation	SNP	ENST00000265362.4	37	c.944A>C	CCDS5599.1	.	.	.	.	.	.	.	.	.	.	T	13.35	2.210600	0.39102	.	.	ENSG00000075213	ENST00000265362;ENST00000436949	T;T	0.10288	2.89;2.89	5.97	5.97	0.96955	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.038935	0.85682	D	0.000000	T	0.09862	0.0242	N	0.25957	0.775	0.46725	D	0.999179	B	0.17667	0.023	B	0.22880	0.042	T	0.26224	-1.0109	10	0.19590	T	0.45	.	16.4383	0.83889	0.0:0.0:0.0:1.0	.	315	Q14563	SEM3A_HUMAN	T	315	ENSP00000265362:N315T;ENSP00000415260:N315T	ENSP00000265362:N315T	N	-	2	0	SEMA3A	83478325	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.321000	0.59209	2.287000	0.76781	0.482000	0.46254	AAC		0.299	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080		6	44	0	0	0	0.217242	0	6	44				
TSHZ3	57616	broad.mit.edu	37	19	31770234	31770234	+	Silent	SNP	G	G	A			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	db9ab0ec-cd1f-4e69-935e-8e1665d07473	g.chr19:31770234G>A	ENST00000240587.4	-	2	792	c.465C>T	c.(463-465)agC>agT	p.S155S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	155	Ser-rich.				in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S155S(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					tgctgctgctgctactgctgc	0.612																																						ENST00000240587.4																			1	Substitution - coding silent(1)	p.S155S(1)	endometrium(1)	breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(463-465)agC>agT		teashirt zinc finger homeobox 3							38.0	42.0	41.0					19																	31770234		2184	4295	6479	SO:0001819	synonymous_variant	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31770234G>A	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.465C>T	19.37:g.31770234G>A							p.S155S	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	792	-	Esophageal squamous(110;0.226)		155			Ser-rich.		Q9H0G6|Q9P254	Silent	SNP	ENST00000240587.4	37	c.465C>T	CCDS12421.2																																																																																				0.612	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		3	17	0	0	0	0.115264	0	3	17				
LRFN5	145581	broad.mit.edu	37	14	42356070	42356070	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	db9ab0ec-cd1f-4e69-935e-8e1665d07473	g.chr14:42356070C>A	ENST00000298119.4	+	3	1431	c.242C>A	c.(241-243)aCt>aAt	p.T81N	LRFN5_ENST00000554171.1_Missense_Mutation_p.T81N|LRFN5_ENST00000554120.1_Missense_Mutation_p.T81N	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	81						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GTGGACCTGACTCTATCCAGG	0.373										HNSCC(30;0.082)																												ENST00000554171.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120						c.(241-243)aCt>aAt		leucine rich repeat and fibronectin type III domain containing 5							54.0	53.0	54.0					14																	42356070		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42356070C>A	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.242C>A	14.37:g.42356070C>A	ENSP00000298119:p.Thr81Asn	HNSCC(30;0.082)				LRFN5_ENST00000298119.4_Missense_Mutation_p.T81N|LRFN5_ENST00000554120.1_Missense_Mutation_p.T81N	p.T81N			Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	5	2674	+			81					B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.242C>A	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	C	17.77	3.471068	0.63625	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.49432	0.78;0.78;0.78	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000018	T	0.39064	0.1064	N	0.00894	-1.105	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.81914	0.988;0.995	T	0.56908	-0.7901	10	0.20046	T	0.44	.	17.0193	0.86429	0.0:1.0:0.0:0.0	.	81;81	G3V364;Q96NI6	.;LRFN5_HUMAN	N	81	ENSP00000298119:T81N;ENSP00000451897:T81N;ENSP00000451067:T81N	ENSP00000298119:T81N	T	+	2	0	LRFN5	41425820	1.000000	0.71417	0.998000	0.56505	0.935000	0.57460	7.818000	0.86416	2.595000	0.87683	0.650000	0.86243	ACT		0.373	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		27	36	1	0	5.45727e-16	0.729181	6.30618e-16	27	36				
XIST	7503	broad.mit.edu	37	X	73066504	73066504	+	lincRNA	SNP	A	A	T			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	db9ab0ec-cd1f-4e69-935e-8e1665d07473	g.chrX:73066504A>T	ENST00000429829.1	-	0	6084					NR_001564.2				X inactive specific transcript (non-protein coding)																		GGAAGGGAAAAGTGGGGATGA	0.478																																						ENST00000429829.1																			0																				89.0	79.0	82.0					X																	73066504		876	1991	2867			0							g.chrX:73066504A>T	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73066504A>T								NR_001564.2						0	6084	-									RNA	SNP	ENST00000429829.1	37																																																																																						0.478	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		4	19	0	0	0	0.217242	0	4	19				
ANKAR	150709	broad.mit.edu	37	2	190557050	190557050	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	db9ab0ec-cd1f-4e69-935e-8e1665d07473	g.chr2:190557050T>C	ENST00000520309.1	+	4	1197	c.1109T>C	c.(1108-1110)tTt>tCt	p.F370S	ANKAR_ENST00000431575.2_Missense_Mutation_p.F299S|ANKAR_ENST00000438402.2_Missense_Mutation_p.F370S|ANKAR_ENST00000461516.1_Intron|ANKAR_ENST00000281412.6_Missense_Mutation_p.F134S|ANKAR_ENST00000313581.4_Missense_Mutation_p.F370S	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	370						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TGCCAGAATTTTCACTACAAA	0.318																																						ENST00000520309.1																			0				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46						c.(1108-1110)tTt>tCt		ankyrin and armadillo repeat containing							66.0	70.0	69.0					2																	190557050		2203	4299	6502	SO:0001583	missense	150709					integral to membrane	binding	g.chr2:190557050T>C	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.1109T>C	2.37:g.190557050T>C	ENSP00000427882:p.Phe370Ser					ANKAR_ENST00000461516.1_Intron|ANKAR_ENST00000281412.6_Missense_Mutation_p.F134S|ANKAR_ENST00000313581.4_Missense_Mutation_p.F370S|ANKAR_ENST00000431575.2_Missense_Mutation_p.F299S|ANKAR_ENST00000438402.2_Missense_Mutation_p.F370S	p.F370S	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		4	1197	+			370					Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	ENST00000520309.1	37	c.1109T>C	CCDS33351.2	.	.	.	.	.	.	.	.	.	.	T	27.3	4.816161	0.90790	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000438402;ENST00000431575;ENST00000281412	T;T;T;T;T	0.61742	0.13;0.13;0.08;0.13;0.08	5.78	5.78	0.91487	.	0.266234	0.27016	N	0.021353	T	0.74435	0.3716	M	0.65498	2.005	0.47778	D	0.99951	D	0.76494	0.999	D	0.83275	0.996	T	0.76932	-0.2776	10	0.72032	D	0.01	-2.0555	15.1018	0.72284	0.0:0.0:0.0:1.0	.	370	Q7Z5J8	ANKAR_HUMAN	S	370;370;370;299;134	ENSP00000427882:F370S;ENSP00000313513:F370S;ENSP00000397243:F370S;ENSP00000393043:F299S;ENSP00000281412:F134S	ENSP00000281412:F134S	F	+	2	0	ANKAR	190265295	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.531000	0.67148	2.204000	0.70986	0.528000	0.53228	TTT		0.318	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		9	40	0	0	0	0.361761	0	9	40				
GALNT10	55568	broad.mit.edu	37	5	153760070	153760070	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	db9ab0ec-cd1f-4e69-935e-8e1665d07473	g.chr5:153760070G>A	ENST00000297107.6	+	6	954	c.817G>A	c.(817-819)Gac>Aac	p.D273N	SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377661.2_Missense_Mutation_p.D211N|GALNT10_ENST00000519544.1_3'UTR|GALNT10_ENST00000425427.2_Missense_Mutation_p.D273N	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	273					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			TGACCATGACGACTTTCGGTA	0.532																																						ENST00000297107.6																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(817-819)Gac>Aac		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)							202.0	178.0	186.0					5																	153760070		2203	4300	6503	SO:0001583	missense	55568					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr5:153760070G>A	AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19873	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 10"""	608043	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"""			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.817G>A	5.37:g.153760070G>A	ENSP00000297107:p.Asp273Asn					SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000519544.1_3'UTR|GALNT10_ENST00000377661.2_Missense_Mutation_p.D211N|GALNT10_ENST00000425427.2_Missense_Mutation_p.D273N	p.D273N	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)		6	954	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	273					B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Missense_Mutation	SNP	ENST00000297107.6	37	c.817G>A	CCDS4325.1	.	.	.	.	.	.	.	.	.	.	G	2.665	-0.278898	0.05642	.	.	ENSG00000164574	ENST00000425427;ENST00000297107;ENST00000377661	T;T;T	0.59364	0.27;0.27;0.27	5.59	4.71	0.59529	Glycosyl transferase, family 2 (1);	0.089022	0.85682	D	0.000000	T	0.31827	0.0809	N	0.04724	-0.175	0.80722	D	1	B;B;B	0.18461	0.001;0.014;0.028	B;B;B	0.10450	0.003;0.005;0.005	T	0.15809	-1.0424	10	0.28530	T	0.3	.	7.8429	0.29408	0.0965:0.2897:0.6138:0.0	.	211;273;273	Q86SR1-2;Q86SR1;Q86SR1-3	.;GLT10_HUMAN;.	N	273;273;211	ENSP00000415210:D273N;ENSP00000297107:D273N;ENSP00000366889:D211N	ENSP00000297107:D273N	D	+	1	0	GALNT10	153740263	1.000000	0.71417	0.987000	0.45799	0.324000	0.28378	4.258000	0.58822	2.637000	0.89404	0.462000	0.41574	GAC		0.532	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	NM_198321		17	185	0	0	0	0.575678	0	17	185				
RNF43	54894	broad.mit.edu	37	17	56434877	56434877	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	db9ab0ec-cd1f-4e69-935e-8e1665d07473	g.chr17:56434877C>G	ENST00000584437.1	-	8	4215	c.2260G>C	c.(2260-2262)Ggc>Cgc	p.G754R	RNF43_ENST00000500597.2_Missense_Mutation_p.G713R|RNF43_ENST00000583753.1_Missense_Mutation_p.G713R|RNF43_ENST00000577716.1_Missense_Mutation_p.G754R|RNF43_ENST00000407977.2_Missense_Mutation_p.G754R|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Missense_Mutation_p.G627R|RNF43_ENST00000577625.1_Missense_Mutation_p.G627R			Q68DV7	RNF43_HUMAN	ring finger protein 43	754	Pro-rich.				negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CATGGCCTGCCCTCTGCGGTG	0.597																																						ENST00000584437.1																			0				NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60						c.(2260-2262)Ggc>Cgc		ring finger protein 43							76.0	73.0	74.0					17																	56434877		2203	4300	6503	SO:0001583	missense	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56434877C>G		CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.2260G>C	17.37:g.56434877C>G	ENSP00000463069:p.Gly754Arg					RNF43_ENST00000407977.2_Missense_Mutation_p.G754R|RNF43_ENST00000583753.1_Missense_Mutation_p.G713R|RNF43_ENST00000500597.2_Missense_Mutation_p.G713R|RNF43_ENST00000577625.1_Missense_Mutation_p.G627R|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577716.1_Missense_Mutation_p.G754R|RNF43_ENST00000581868.1_Missense_Mutation_p.G627R	p.G754R			Q68DV7	RNF43_HUMAN			8	4215	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		754			Pro-rich.		A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP	ENST00000584437.1	37	c.2260G>C	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.845019	0.32606	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.08370	3.24;3.1	5.71	2.66	0.31614	.	0.395377	0.21743	N	0.069797	T	0.05640	0.0148	N	0.24115	0.695	0.28069	N	0.932672	B;B;B	0.32101	0.033;0.356;0.019	B;B;B	0.29598	0.034;0.104;0.015	T	0.23547	-1.0185	10	0.72032	D	0.01	-7.3176	7.8483	0.29440	0.0:0.742:0.0:0.258	.	713;754;754	Q68DV7-2;Q68DV7-4;Q68DV7	.;.;RNF43_HUMAN	R	754;713	ENSP00000385328:G754R;ENSP00000441969:G713R	ENSP00000385328:G754R	G	-	1	0	RNF43	53789876	0.123000	0.22298	0.857000	0.33713	0.106000	0.19336	0.231000	0.17872	0.359000	0.24239	0.511000	0.50034	GGC		0.597	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		16	99	0	0	0	0.539581	0	16	99				
ARMS2	387715	broad.mit.edu	37	10	124214267	124214267	+	Silent	SNP	G	G	T	rs201895396		TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	db9ab0ec-cd1f-4e69-935e-8e1665d07473	g.chr10:124214267G>T	ENST00000528446.1	+	1	99	c.24G>T	c.(22-24)ccG>ccT	p.P8P		NM_001099667.1	NP_001093137.1	P0C7Q2	ARMS2_HUMAN	age-related maculopathy susceptibility 2	8					retina homeostasis (GO:0001895)	mitochondrion (GO:0005739)|photoreceptor inner segment (GO:0001917)				ovary(1)	1		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ACCCAGGACCGATGGTAACTG	0.572																																						ENST00000528446.1																			0				ovary(1)	1						c.(22-24)ccG>ccT		age-related maculopathy susceptibility 2							99.0	104.0	102.0					10																	124214267		2048	4194	6242	SO:0001819	synonymous_variant	387715				retina homeostasis	mitochondrion|photoreceptor inner segment		g.chr10:124214267G>T	BC066349	CCDS53585.1	10q26.13	2013-01-23			ENSG00000254636	ENSG00000254636			32685	protein-coding gene	gene with protein product		611313				16080115, 16174643	Standard	NM_001099667		Approved	LOC387715, ARMD8	uc001lgi.3	P0C7Q2	OTTHUMG00000048232	ENST00000528446.1:c.24G>T	10.37:g.124214267G>T							p.P8P	NM_001099667.1	NP_001093137.1	P0C7Q2	ARMS2_HUMAN			1	99	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	8					B2Y7I5	Silent	SNP	ENST00000528446.1	37	c.24G>T	CCDS53585.1																																																																																				0.572	ARMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109727.2			3	109	1	0	0.115264	0.115264	0.119875	3	109				
TUBGCP6	85378	broad.mit.edu	37	22	50659212	50659212	+	Silent	SNP	A	A	G	rs141527317	byFrequency	TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	db9ab0ec-cd1f-4e69-935e-8e1665d07473	g.chr22:50659212A>G	ENST00000248846.5	-	16	3680	c.3576T>C	c.(3574-3576)tcT>tcC	p.S1192S	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000439308.2_Silent_p.S1192S			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1192	9 X 27 AA tandem repeats.				G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-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)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TGCTGGCATCAGACACGTGTC	0.617													N|||	3	0.000599042	0.0	0.0	5008	,	,		21823	0.002		0.0	False		,,,				2504	0.001					ENST00000439308.2																			0				breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45						c.(3574-3576)tcT>tcC		tubulin, gamma complex associated protein 6		G		1,4405		0,1,2202	74.0	68.0	70.0		3576	-9.2	0.0	22	dbSNP_134	70	1,8599		0,1,4299	no	coding-synonymous	TUBGCP6	NM_020461.3		0,2,6501	GG,GA,AA		0.0116,0.0227,0.0154		1192/1820	50659212	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50659212A>G	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.3576T>C	22.37:g.50659212A>G						TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000248846.5_Silent_p.S1192S	p.S1192S	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	16	4068	-		all_cancers(38;5.79e-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)	1192			9 X 27 AA tandem repeats.		Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Silent	SNP	ENST00000248846.5	37	c.3576T>C	CCDS14087.1																																																																																				0.617	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		4	90	0	0	0	0.184627	0	4	90				
HLA-DQB2	3120	broad.mit.edu	37	6	32725559	32725559	+	Missense_Mutation	SNP	C	C	T	rs113761247		TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	db9ab0ec-cd1f-4e69-935e-8e1665d07473	g.chr6:32725559C>T	ENST00000437316.2	-	4	811	c.748G>A	c.(748-750)Ggt>Agt	p.G250S	HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000435145.2_Missense_Mutation_p.G250S			P05538	DQB2_HUMAN	major histocompatibility complex, class II, DQ beta 2	254					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|B cell affinity maturation (GO:0002344)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of alpha-beta T cell activation (GO:0046635)|positive regulation of antigen processing and presentation (GO:0002579)|positive regulation of T-helper 1 type immune response (GO:0002827)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome (GO:0005769)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)|toxic substance binding (GO:0015643)			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						CCTTTCTGACCCCTGTGACGG	0.552																																						ENST00000435145.2																			0				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						c.(748-750)Ggt>Agt		major histocompatibility complex, class II, DQ beta 2																																				SO:0001583	missense	3120				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex		g.chr6:32725559C>T	M83890	CCDS56419.1	6p21.3	2013-01-11			ENSG00000232629	ENSG00000232629		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4945	protein-coding gene	gene with protein product		615161		HLA-DXB		2564844	Standard	NM_001198858		Approved		uc003oby.4	P05538	OTTHUMG00000031125	ENST00000437316.2:c.748G>A	6.37:g.32725559C>T	ENSP00000396330:p.Gly250Ser					HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.G250S	p.G250S			Q5SR06	Q5SR06_HUMAN			4	809	-			216					A6NIA5|Q29826|Q29870|Q29871|Q29872|Q29873|Q5SR06	Missense_Mutation	SNP	ENST00000437316.2	37	c.748G>A		.	.	.	.	.	.	.	.	.	.	.	0.003	-2.519393	0.00149	.	.	ENSG00000232629	ENST00000437316;ENST00000435145	T;T	0.00623	6.18;6.15	3.24	-1.21	0.09524	.	0.870743	0.09631	N	0.776240	T	0.00178	0.0005	.	.	.	0.21967	N	0.999447	B	0.10296	0.003	B	0.09377	0.004	T	0.22277	-1.0221	9	0.36615	T	0.2	.	4.3261	0.11041	0.0:0.2114:0.1703:0.6183	.	250	A2ADX3	.	S	250	ENSP00000396330:G250S;ENSP00000410512:G250S	ENSP00000410512:G250S	G	-	1	0	HLA-DQB2	32833537	0.000000	0.05858	0.134000	0.22075	0.023000	0.10783	0.266000	0.18534	-0.331000	0.08501	-1.846000	0.00573	GGT		0.552	HLA-DQB2-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000076216.2			6	26	0	0	0	0.307466	0	6	26				
PTPRA	5786	broad.mit.edu	37	20	2988040	2988040	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	db9ab0ec-cd1f-4e69-935e-8e1665d07473	g.chr20:2988040G>A	ENST00000216877.6	+	10	1253	c.853G>A	c.(853-855)Gat>Aat	p.D285N	PTPRA_ENST00000380393.3_Missense_Mutation_p.D294N|PTPRA_ENST00000358719.4_Missense_Mutation_p.D150N|PTPRA_ENST00000425918.2_Missense_Mutation_p.D305N|PTPRA_ENST00000356147.3_Missense_Mutation_p.D285N|PTPRA_ENST00000399903.2_Missense_Mutation_p.D294N|PTPRA_ENST00000318266.5_Missense_Mutation_p.D285N	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	294	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TCCAGATTCTGATTACATCAA	0.448																																						ENST00000216877.6																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(853-855)Gat>Aat		protein tyrosine phosphatase, receptor type, A							217.0	190.0	199.0					20																	2988040		2203	4300	6503	SO:0001583	missense	0				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr20:2988040G>A		CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.853G>A	20.37:g.2988040G>A	ENSP00000216877:p.Asp285Asn					PTPRA_ENST00000358719.4_Missense_Mutation_p.D150N|PTPRA_ENST00000425918.2_Missense_Mutation_p.D305N|PTPRA_ENST00000318266.5_Missense_Mutation_p.D285N|PTPRA_ENST00000399903.2_Missense_Mutation_p.D294N|PTPRA_ENST00000380393.3_Missense_Mutation_p.D294N|PTPRA_ENST00000356147.3_Missense_Mutation_p.D285N	p.D285N	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN			10	1253	+			294			Tyrosine-protein phosphatase 1.		A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Missense_Mutation	SNP	ENST00000216877.6	37	c.853G>A	CCDS13039.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.957027	0.92726	.	.	ENSG00000132670	ENST00000380393;ENST00000216877;ENST00000399903;ENST00000358719;ENST00000425918;ENST00000318266;ENST00000356147	T;T;T;T;T;T;T	0.16073	2.37;2.37;2.37;2.37;2.37;2.37;2.37	5.46	5.46	0.80206	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.85682	U	0.000000	T	0.52125	0.1715	M	0.90019	3.08	0.80722	D	1	D;D;D	0.89917	1.0;0.964;0.992	D;P;P	0.76575	0.988;0.608;0.872	T	0.61088	-0.7133	10	0.87932	D	0	.	19.2614	0.93970	0.0:0.0:1.0:0.0	.	305;294;285	B7Z2A4;P18433;P18433-4	.;PTPRA_HUMAN;.	N	294;285;294;150;305;285;285	ENSP00000369756:D294N;ENSP00000216877:D285N;ENSP00000382787:D294N;ENSP00000351559:D150N;ENSP00000393553:D305N;ENSP00000314568:D285N;ENSP00000348468:D285N	ENSP00000216877:D285N	D	+	1	0	PTPRA	2936040	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.507000	0.90522	2.723000	0.93209	0.650000	0.86243	GAT		0.448	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077682.3			48	95	0	0	0	0.870114	0	48	95				
SERPINA6	866	broad.mit.edu	37	14	94780979	94780979	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	db9ab0ec-cd1f-4e69-935e-8e1665d07473	g.chr14:94780979G>A	ENST00000341584.3	-	2	153	c.7C>T	c.(7-9)Ctc>Ttc	p.L3F		NM_001756.3	NP_001747	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	3					glucocorticoid metabolic process (GO:0008211)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)|steroid binding (GO:0005496)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	TACAGGAGGAGTGGCATTGTC	0.547																																						ENST00000341584.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26						c.(7-9)Ctc>Ttc		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)						77.0	81.0	79.0					14																	94780979		2203	4300	6503	SO:0001583	missense	866				regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding	g.chr14:94780979G>A	J02943	CCDS9924.1	14q32.13	2014-02-18	2005-08-18		ENSG00000170099	ENSG00000170099		"""Serine (or cysteine) peptidase inhibitors"""	1540	protein-coding gene	gene with protein product	"""corticosteroid binding globulin"", ""transcortin"""	122500	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6"""	CBG		3299377, 7912884, 24172014	Standard	NM_001756		Approved		uc001ycv.3	P08185	OTTHUMG00000171346	ENST00000341584.3:c.7C>T	14.37:g.94780979G>A	ENSP00000342850:p.Leu3Phe						p.L3F	NM_001756.3	NP_001747.2	P08185	CBG_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	2	153	-		all_cancers(154;0.0482)|all_epithelial(191;0.166)	3					A8K456|Q7Z2Q9	Missense_Mutation	SNP	ENST00000341584.3	37	c.7C>T	CCDS9924.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091018	0.76756	.	.	ENSG00000170099	ENST00000341584;ENST00000557225	D;D	0.88586	-2.4;-1.76	4.87	0.179	0.15063	Serpin domain (1);	0.663258	0.12926	N	0.427758	T	0.78033	0.4220	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.65286	-0.6205	10	0.46703	T	0.11	.	6.8105	0.23802	0.591:0.0:0.409:0.0	.	3	P08185	CBG_HUMAN	F	3	ENSP00000342850:L3F;ENSP00000452018:L3F	ENSP00000342850:L3F	L	-	1	0	SERPINA6	93850732	0.000000	0.05858	0.000000	0.03702	0.891000	0.51852	0.363000	0.20301	0.140000	0.18849	0.563000	0.77884	CTC		0.547	SERPINA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413065.1	NM_001756		14	101	0	0	0	0.539581	0	14	101				
MAST2	23139	broad.mit.edu	37	1	46495849	46495849	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr1:46495849delT	ENST00000361297.2	+	21	2775	c.2492delT	c.(2491-2493)gtgfs	p.V831fs	MAST2_ENST00000372009.2_Frame_Shift_Del_p.V761fs|MAST2_ENST00000477968.1_3'UTR	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GAGGAAGAAGTGAGTGAGGAT	0.572																																						ENST00000361297.2																			0				breast(1)|lung(3)|ovary(5)|stomach(2)	11						c.(2491-2493)ggfs		microtubule associated serine/threonine kinase 2							81.0	84.0	83.0					1																	46495849		2165	4270	6435	SO:0001589	frameshift_variant	23139				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	g.chr1:46495849delT	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.2492delT	1.37:g.46495849delT	ENSP00000354671:p.Val831fs					MAST2_ENST00000372009.2_Frame_Shift_Del_p.V761fs|MAST2_ENST00000372008.1_Frame_Shift_Del_p.V716fs|MAST2_ENST00000477968.1_3'UTR	p.V831fs	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN			21	2775	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)		831			AGC-kinase C-terminal.			Frame_Shift_Del	DEL	ENST00000361297.2	37	c.2492delT	CCDS41326.1																																																																																				0.572	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		12	90						12	90	---	---	---	---
APOB	338	broad.mit.edu	37	2	21231438	21231440	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr2:21231438_21231440delGAG	ENST00000233242.1	-	26	8427_8429	c.8300_8302delCTC	c.(8299-8304)cctctt>ctt	p.P2767del		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2767					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATGTGAAAAGAGGAGATTGGAT	0.438																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(8299-8304)ctt>c		apolipoprotein B	Atorvastatin(DB01076)																																			SO:0001651	inframe_deletion	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21231438_21231440delGAG	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.8300_8302delCTC	2.37:g.21231441_21231443delGAG	ENSP00000233242:p.Pro2767del						p.PL2767del	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	8427_8429	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2767					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	In_Frame_Del	DEL	ENST00000233242.1	37	c.8300_8302delCTC	CCDS1703.1																																																																																				0.438	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			17	184						17	184	---	---	---	---
LOC150776	150776	broad.mit.edu	37	2	132266282	132266282	+	RNA	DEL	G	G	-	rs35012291	byFrequency	TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr2:132266282delG	ENST00000438378.2	+	0	1234					NR_026922.1																						GCTGGATGGTGGGAAGCAGAA	0.547													|||unknown(NO_COVERAGE)	1676	0.334665	0.1346	0.4265	5008	,	,		18092	0.6806		0.2197	False		,,,				2504	0.3016					ENST00000438378.2																			0																																																			0							g.chr2:132266282delG																													2.37:g.132266282delG								NR_026922.1						0	1234	+									RNA	DEL	ENST00000438378.2	37																																																																																						0.547	AC093838.4-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000331819.7			8	8						8	8	---	---	---	---
PIKFYVE	200576	broad.mit.edu	37	2	209163430	209163439	+	Frame_Shift_Del	DEL	CATCTGTCAG	CATCTGTCAG	-	rs150646524	byFrequency	TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr2:209163430_209163439delCATCTGTCAG	ENST00000264380.4	+	8	1135_1144	c.977_986delCATCTGTCAG	c.(976-987)acatctgtcagtfs	p.TSVS326fs	PIKFYVE_ENST00000308862.6_Frame_Shift_Del_p.TSVS240fs|PIKFYVE_ENST00000392202.3_Frame_Shift_Del_p.TSVS229fs|PIKFYVE_ENST00000407449.1_Frame_Shift_Del_p.TSVS326fs	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	326					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)	p.S327F(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TCATATGAGACATCTGTCAGTCCCCAGGCT	0.429																																						ENST00000264380.4																			1	Substitution - Missense(1)	p.S327F(1)	lung(1)	NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						c.(976-987)atfs		phosphoinositide kinase, FYVE finger containing																																				SO:0001589	frameshift_variant	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209163430_209163439delCATCTGTCAG	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.977_986delCATCTGTCAG	2.37:g.209163430_209163439delCATCTGTCAG	ENSP00000264380:p.Thr326fs					PIKFYVE_ENST00000392202.3_Frame_Shift_Del_p.TSVS229fs|PIKFYVE_ENST00000407449.1_Frame_Shift_Del_p.TSVS326fs|PIKFYVE_ENST00000308862.6_Frame_Shift_Del_p.TSVS240fs	p.TSVS326fs	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN			8	1135_1144	+			326					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Frame_Shift_Del	DEL	ENST00000264380.4	37	c.977_986delCATCTGTCAG	CCDS2382.1																																																																																				0.429	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		23	62						23	62	---	---	---	---
APC	324	broad.mit.edu	37	5	112175599	112175600	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr5:112175599_112175600insA	ENST00000457016.1	+	16	4688_4689	c.4308_4309insA	c.(4309-4311)aaafs	p.K1437fs	APC_ENST00000508376.2_Frame_Shift_Ins_p.K1437fs|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Frame_Shift_Ins_p.K1437fs			P25054	APC_HUMAN	adenomatous polyposis coli	1437	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.S1436fs*37(3)|p.?(1)|p.P1424fs*19(1)|p.K1192fs*3(1)|p.P1432fs*35(1)|p.S1436fs*36(1)|p.S1436fs*33(1)|p.S1436fs*22(1)|p.K1437*(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CAAGCAGAAGTAAAACACCTCC	0.48		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"""D, Mis, N, F, S"""	adenomatous polyposis of the colon gene			"""E, M, O"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""		11	Deletion - Frameshift(9)|Substitution - Nonsense(1)|Unknown(1)	p.S1436fs*37(3)|p.?(1)|p.P1424fs*19(1)|p.K1192fs*3(1)|p.P1432fs*35(1)|p.S1436fs*36(1)|p.S1436fs*33(1)|p.S1436fs*22(1)|p.K1437*(1)	large_intestine(9)|soft_tissue(1)|skin(1)	NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261	GRCh37	CD084027	APC	D		c.(4306-4311)agaaacfs		adenomatous polyposis coli																																				SO:0001589	frameshift_variant	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112175599_112175600insA	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4312dupA	5.37:g.112175603_112175603dupA	ENSP00000413133:p.Lys1437fs	TSP Lung(16;0.13)				APC_ENST00000508376.2_Frame_Shift_Ins_p.N1437fs|APC_ENST00000257430.4_Frame_Shift_Ins_p.N1437fs|CTC-554D6.1_ENST00000520401.1_Intron	p.N1437fs			P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	4688_4689	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	1437			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Frame_Shift_Ins	INS	ENST00000457016.1	37	c.4308_4309insA	CCDS4107.1																																																																																				0.480	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		7	58						7	58	---	---	---	---
ATG16L2	89849	broad.mit.edu	37	11	72528863	72528865	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr11:72528863_72528865delAGG	ENST00000321297.5	+	3	419_421	c.281_283delAGG	c.(280-285)caggag>cag	p.E98del	ATG16L2_ENST00000534905.1_In_Frame_Del_p.E98del	NM_033388.1	NP_203746.1	Q8NAA4	A16L2_HUMAN	autophagy related 16-like 2 (S. cerevisiae)	98					autophagy (GO:0006914)|negative stranded viral RNA replication (GO:0039689)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			GTGAAGTGGCAGGAGGAGGAGGA	0.591																																						ENST00000321297.5																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14						c.(280-285)cag>c		autophagy related 16-like 2 (S. cerevisiae)																																				SO:0001651	inframe_deletion	89849				autophagy|protein transport	cytoplasm	protein binding	g.chr11:72528863_72528865delAGG	AK024423	CCDS31634.1	11q13.4	2014-02-12	2012-06-06		ENSG00000168010	ENSG00000168010		"""WD repeat domain containing"""	25464	protein-coding gene	gene with protein product			"""ATG16 autophagy related 16-like 2 (S. cerevisiae)"""			11214971	Standard	XM_005274378		Approved	FLJ00012, WDR80, ATG16B	uc001otd.3	Q8NAA4	OTTHUMG00000167961	ENST00000321297.5:c.281_283delAGG	11.37:g.72528872_72528874delAGG	ENSP00000326340:p.Glu98del					ATG16L2_ENST00000534905.1_In_Frame_Del_p.QE94del	p.QE94del	NM_033388.1	NP_203746.1	Q8NAA4	A16L2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.73e-06)		3	419_421	+			94					A5PL30|B2RPK5|Q658V4|Q6PID3|Q8NBG0	In_Frame_Del	DEL	ENST00000321297.5	37	c.281_283delAGG	CCDS31634.1																																																																																				0.591	ATG16L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397305.1	NM_033388		7	89						7	89	---	---	---	---
PRB2	653247	broad.mit.edu	37	12	11546788	11546790	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr12:11546788_11546790delGGA	ENST00000389362.4	-	3	257_259	c.222_224delTCC	c.(220-225)cctcca>cca	p.74_75PP>P	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	74	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGGCTTTCCTGGAGGAGGTGGGG	0.601																																						ENST00000389362.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(220-225)cca>cc		proline-rich protein BstNI subfamily 2																																				SO:0001651	inframe_deletion	653247							g.chr12:11546788_11546790delGGA	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.222_224delTCC	12.37:g.11546791_11546793delGGA	ENSP00000374013:p.Pro75del					PRB1_ENST00000546254.1_Intron	p.PP74del	NM_006248.3	NP_006239.3			OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	257_259	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)						O00599|P02811|P04281	In_Frame_Del	DEL	ENST00000389362.4	37	c.222_224delTCC	CCDS41757.2																																																																																				0.601	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		7	308						7	308	---	---	---	---
MIEF2	125170	broad.mit.edu	37	17	18167778	18167780	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr17:18167778_18167780delGCT	ENST00000323019.4	+	4	1276_1278	c.1065_1067delGCT	c.(1063-1068)cggctg>cgg	p.L360del	MIEF2_ENST00000395706.2_In_Frame_Del_p.L371del|MIEF2_ENST00000395704.4_3'UTR	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	MID49_HUMAN	mitochondrial elongation factor 2	360					mitochondrion organization (GO:0007005)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)		p.L356R(1)									CTCGCCGGCGGCTGCTGCTGCTG	0.685																																						ENST00000323019.4																			1	Substitution - Missense(1)	p.L356R(1)	central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9						c.(1063-1068)cgg>cg																																						SO:0001651	inframe_deletion	0					integral to membrane	protein binding	g.chr17:18167778_18167780delGCT	BC014973	CCDS11193.1, CCDS45624.1, CCDS45625.1	17p11.2	2013-09-23	2013-09-23	2013-09-23	ENSG00000177427	ENSG00000177427			17920	protein-coding gene	gene with protein product		615498	"""Smith-Magenis syndrome chromosome region, candidate 7"""	SMCR7		11997338, 21508961	Standard	NM_001144900		Approved	MGC23130, MiD49	uc010vxq.2	Q96C03	OTTHUMG00000059392	ENST00000323019.4:c.1065_1067delGCT	17.37:g.18167787_18167789delGCT	ENSP00000323591:p.Leu360del					SMCR7_ENST00000395704.4_3'UTR|SMCR7_ENST00000395706.2_In_Frame_Del_p.RL366del	p.RL355del	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	SMCR7_HUMAN			4	1276_1278	+	all_neural(463;0.228)		355					J3KPT3|Q6ZRD4|Q96N07	In_Frame_Del	DEL	ENST00000323019.4	37	c.1065_1067delGCT	CCDS11193.1																																																																																				0.685	MIEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132060.2	NM_139162		7	75						7	75	---	---	---	---
OR7E24	26648	broad.mit.edu	37	19	9361740	9361741	+	Frame_Shift_Ins	INS	-	-	T	rs374077378|rs201985790		TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr19:9361740_9361741insT	ENST00000456448.1	+	1	135_136	c.21_22insT	c.(22-24)tttfs	p.F8fs		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	8						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						TTCCAATTCTCTTTTTTTTTTT	0.386																																						ENST00000456448.1																			0				endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						c.(19-24)ctttttfs		olfactory receptor, family 7, subfamily E, member 24																																				SO:0001589	frameshift_variant	26648				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9361740_9361741insT	Y10529	CCDS45955.1	19p13.2	2012-08-09	2004-03-04	2004-03-05		ENSG00000237521		"""GPCR / Class A : Olfactory receptors"""	8396	protein-coding gene	gene with protein product			"""olfactory receptor, family 7, subfamily E, member 24 pseudogene"""	OR7E24P		9268701	Standard	NM_001079935		Approved	OR19-8, HSHT2, OR7E24Q	uc002mlb.1	Q6IFN5		ENST00000456448.1:c.32dupT	19.37:g.9361751_9361751dupT	ENSP00000387523:p.Phe8fs						p.LF7fs	NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN			1	135_136	+			7					B9EJD9|Q9UPJ1	Frame_Shift_Ins	INS	ENST00000456448.1	37	c.21_22insT	CCDS45955.1																																																																																				0.386	OR7E24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449006.1			3	6						3	6	---	---	---	---
DRICH1	51233	broad.mit.edu	37	22	23959767	23959769	+	In_Frame_Del	DEL	CAT	CAT	-	rs199862187|rs567906771	byFrequency	TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr22:23959767_23959769delCAT	ENST00000317749.5	-	7	809_811	c.512_514delATG	c.(511-516)gatgcc>gcc	p.D171del		NM_016449.3	NP_057533.2	Q6PGQ1	DRIC1_HUMAN		171	Asp-rich.									endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						CTTACCTGGGcatcatcatcatc	0.433														4	0.000798722	0.0	0.0029	5008	,	,		25110	0.001		0.0	False		,,,				2504	0.001					ENST00000317749.5																			0				endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						c.(511-516)gcc>g		chromosome 22 open reading frame 43				38,3770		2,34,1868						-0.9	0.0			110	95,7919		9,77,3921	no	coding	C22orf43	NM_016449.3		11,111,5789	A1A1,A1R,RR		1.1854,0.9979,1.125				133,11689				SO:0001651	inframe_deletion	51233							g.chr22:23959767_23959769delCAT																												ENST00000317749.5:c.512_514delATG	22.37:g.23959776_23959778delCAT	ENSP00000316137:p.Asp171del						p.DA171del	NM_016449.3	NP_057533.2	Q6PGQ1	CV043_HUMAN			7	809_811	-			171			Asp-rich.		Q6ICJ8|Q6P4I3|Q9NU31	In_Frame_Del	DEL	ENST00000317749.5	37	c.512_514delATG	CCDS42985.1																																																																																				0.433	C22orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319708.2			7	74						7	74	---	---	---	---
MAST2	23139	broad.mit.edu	37	1	46495849	46495849	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	db9ab0ec-cd1f-4e69-935e-8e1665d07473	g.chr1:46495849delT	ENST00000361297.2	+	21	2775	c.2492delT	c.(2491-2493)gtgfs	p.V831fs	MAST2_ENST00000372009.2_Frame_Shift_Del_p.V761fs|MAST2_ENST00000477968.1_3'UTR	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GAGGAAGAAGTGAGTGAGGAT	0.572																																						ENST00000361297.2																			0				breast(1)|lung(3)|ovary(5)|stomach(2)	11						c.(2491-2493)ggfs		microtubule associated serine/threonine kinase 2							81.0	84.0	83.0					1																	46495849		2165	4270	6435	SO:0001589	frameshift_variant	23139				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	g.chr1:46495849delT	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.2492delT	1.37:g.46495849delT	ENSP00000354671:p.Val831fs					MAST2_ENST00000372008.1_Frame_Shift_Del_p.V716fs|MAST2_ENST00000372009.2_Frame_Shift_Del_p.V761fs|MAST2_ENST00000477968.1_3'UTR	p.V831fs	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN			21	2775	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)		831			AGC-kinase C-terminal.			Frame_Shift_Del	DEL	ENST00000361297.2	37	c.2492delT	CCDS41326.1																																																																																				0.572	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		12	90						12	90	---	---	---	---
APOB	338	broad.mit.edu	37	2	21231438	21231440	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	db9ab0ec-cd1f-4e69-935e-8e1665d07473	g.chr2:21231438_21231440delGAG	ENST00000233242.1	-	26	8427_8429	c.8300_8302delCTC	c.(8299-8304)cctctt>ctt	p.P2767del		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2767					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATGTGAAAAGAGGAGATTGGAT	0.438																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(8299-8304)ctt>c		apolipoprotein B	Atorvastatin(DB01076)																																			SO:0001651	inframe_deletion	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21231438_21231440delGAG	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.8300_8302delCTC	2.37:g.21231441_21231443delGAG	ENSP00000233242:p.Pro2767del						p.PL2767del	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	8427_8429	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2767					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	In_Frame_Del	DEL	ENST00000233242.1	37	c.8300_8302delCTC	CCDS1703.1																																																																																				0.438	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			17	184						17	184	---	---	---	---
PIKFYVE	200576	broad.mit.edu	37	2	209163430	209163439	+	Frame_Shift_Del	DEL	CATCTGTCAG	CATCTGTCAG	-	rs150646524	byFrequency	TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	db9ab0ec-cd1f-4e69-935e-8e1665d07473	g.chr2:209163430_209163439delCATCTGTCAG	ENST00000264380.4	+	8	1135_1144	c.977_986delCATCTGTCAG	c.(976-987)acatctgtcagtfs	p.TSVS326fs	PIKFYVE_ENST00000308862.6_Frame_Shift_Del_p.TSVS240fs|PIKFYVE_ENST00000392202.3_Frame_Shift_Del_p.TSVS229fs|PIKFYVE_ENST00000407449.1_Frame_Shift_Del_p.TSVS326fs	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	326					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)	p.S327F(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TCATATGAGACATCTGTCAGTCCCCAGGCT	0.429																																						ENST00000264380.4																			1	Substitution - Missense(1)	p.S327F(1)	lung(1)	NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						c.(976-987)atfs		phosphoinositide kinase, FYVE finger containing																																				SO:0001589	frameshift_variant	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209163430_209163439delCATCTGTCAG	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.977_986delCATCTGTCAG	2.37:g.209163430_209163439delCATCTGTCAG	ENSP00000264380:p.Thr326fs					PIKFYVE_ENST00000392202.3_Frame_Shift_Del_p.TSVS229fs|PIKFYVE_ENST00000407449.1_Frame_Shift_Del_p.TSVS326fs|PIKFYVE_ENST00000308862.6_Frame_Shift_Del_p.TSVS240fs	p.TSVS326fs	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN			8	1135_1144	+			326					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Frame_Shift_Del	DEL	ENST00000264380.4	37	c.977_986delCATCTGTCAG	CCDS2382.1																																																																																				0.429	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		23	62						23	62	---	---	---	---
XPC	7508	broad.mit.edu	37	3	14219966	14219968	+	Splice_Site	DEL	CCT	CCT	-	rs72561774	byFrequency	TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	db9ab0ec-cd1f-4e69-935e-8e1665d07473	g.chr3:14219966_14219968delCCT	ENST00000285021.7	-	1	315_317	c.101_103delAGG	c.(100-105)gaggat>gat	p.E34del	LSM3_ENST00000306024.3_5'UTR|XPC_ENST00000449060.2_Splice_Site_p.E34del	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	34	Glu-rich (acidic).|Poly-Glu.				DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)	p.E34delE(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCGCTCTCACCCTCCTCCTCCTC	0.734			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000285021.7			yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	"""Mis, N, F, S"""	"""xeroderma pigmentosum, complementation group C"""			E		"""skin basal cell, skin squamous cell, melanoma"""			1	Deletion - In frame(1)	p.E34delE(1)	upper_aerodigestive_tract(1)	NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.e1+1	Nucleotide excision repair (NER)	xeroderma pigmentosum, complementation group C			,	315,1,3348		29,0,257,0,1,1545					,	5.2	1.0			23	706,1,7113		33,0,640,0,1,3236	no	codingComplex-near-splice,codingComplex-near-splice	XPC	NM_004628.4,NM_001145769.1	,	62,0,897,0,2,4781	A1A1,A1A2,A1R,A2A2,A2R,RR		9.0409,8.6245,8.908	,	,		1021,2,10461				SO:0001630	splice_region_variant	7508	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding	g.chr3:14219966_14219968delCCT		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group C protein"""	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.103+1AGG>-	3.37:g.14219975_14219977delCCT						XPC_ENST00000449060.2_Splice_Site_p.ED34_splice|LSM3_ENST00000306024.3_5'UTR	p.ED34_splice	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN			1	315_317	-			34			Glu-rich (acidic).|Poly-Glu.		B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Splice_Site	DEL	ENST00000285021.7	37	c.103_splice	CCDS46763.1																																																																																				0.734	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3	NM_004628	In_Frame_Del	11	53						11	53	---	---	---	---
APC	324	broad.mit.edu	37	5	112175599	112175600	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	db9ab0ec-cd1f-4e69-935e-8e1665d07473	g.chr5:112175599_112175600insA	ENST00000457016.1	+	16	4688_4689	c.4308_4309insA	c.(4309-4311)aaafs	p.K1437fs	APC_ENST00000508376.2_Frame_Shift_Ins_p.K1437fs|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Frame_Shift_Ins_p.K1437fs			P25054	APC_HUMAN	adenomatous polyposis coli	1437	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.S1436fs*37(3)|p.?(1)|p.P1424fs*19(1)|p.K1192fs*3(1)|p.P1432fs*35(1)|p.S1436fs*36(1)|p.S1436fs*33(1)|p.S1436fs*22(1)|p.K1437*(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CAAGCAGAAGTAAAACACCTCC	0.48		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"""D, Mis, N, F, S"""	adenomatous polyposis of the colon gene			"""E, M, O"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""		11	Deletion - Frameshift(9)|Substitution - Nonsense(1)|Unknown(1)	p.S1436fs*37(3)|p.?(1)|p.P1424fs*19(1)|p.K1192fs*3(1)|p.P1432fs*35(1)|p.S1436fs*36(1)|p.S1436fs*33(1)|p.S1436fs*22(1)|p.K1437*(1)	large_intestine(9)|soft_tissue(1)|skin(1)	NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261	GRCh37	CD084027	APC	D		c.(4306-4311)agaaacfs		adenomatous polyposis coli																																				SO:0001589	frameshift_variant	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112175599_112175600insA	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4312dupA	5.37:g.112175603_112175603dupA	ENSP00000413133:p.Lys1437fs	TSP Lung(16;0.13)				CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Frame_Shift_Ins_p.N1437fs|APC_ENST00000257430.4_Frame_Shift_Ins_p.N1437fs	p.N1437fs			P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	4688_4689	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	1437			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Frame_Shift_Ins	INS	ENST00000457016.1	37	c.4308_4309insA	CCDS4107.1																																																																																				0.480	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		7	58						7	58	---	---	---	---
NUTM2F	54754	broad.mit.edu	37	9	97080945	97080947	+	In_Frame_Del	DEL	AGA	AGA	-	rs150455117|rs112857574	byFrequency	TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	db9ab0ec-cd1f-4e69-935e-8e1665d07473	g.chr9:97080945_97080947delAGA	ENST00000253262.4	-	7	2091_2093	c.2071_2073delTCT	c.(2071-2073)tctdel	p.S691del	NUTM2F_ENST00000341207.4_In_Frame_Del_p.S676del|NUTM2F_ENST00000335456.7_Intron	NM_017561.1	NP_060031.1	A1L443	NTM2F_HUMAN	NUT family member 2F	691				Missing (in Ref. 2; AAI30391 and 3; CAB61394). {ECO:0000305}.				p.S557delS(1)									TGCTGGCAGGAGAAGGTGATGGG	0.611														3777	0.754193	0.6051	0.8084	5008	,	,		15297	0.8869		0.7227	False		,,,				2504	0.8129					ENST00000253262.4																			1	Deletion - In frame(1)	p.S557delS(1)	central_nervous_system(1)								c.(2071-2073)del		NUT family member 2F				2288,1260		619,1050,105						-3.0	0.0		dbSNP_134	20	5646,2060		2048,1550,255	no	coding	FAM22F	NM_017561.1		2667,2600,360	A1A1,A1R,RR		26.7324,35.513,29.5006				7934,3320				SO:0001651	inframe_deletion	54754							g.chr9:97080945_97080947delAGA		CCDS47994.1	9q22.32	2013-05-02	2013-03-14	2013-05-02	ENSG00000130950	ENSG00000130950			23450	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member F"""	FAM22F			Standard	NM_017561		Approved	DKFZp434I1117		A1L443	OTTHUMG00000020260	ENST00000253262.4:c.2071_2073delTCT	9.37:g.97080945_97080947delAGA	ENSP00000253262:p.Ser691del					NUTM2F_ENST00000335456.7_Intron|NUTM2F_ENST00000341207.4_In_Frame_Del_p.S676del	p.S691del	NM_017561.1	NP_060031.1					7	2091_2093	-								B6ZDF0|Q5SR58|Q5SR59|Q9UFB1	In_Frame_Del	DEL	ENST00000253262.4	37	c.2071_2073delTCT	CCDS47994.1																																																																																				0.611	NUTM2F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053173.2	NM_017561		6	9						6	9	---	---	---	---
GNAS-AS1	149775	broad.mit.edu	37	20	57405201	57405203	+	RNA	DEL	ACC	ACC	-			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	db9ab0ec-cd1f-4e69-935e-8e1665d07473	g.chr20:57405201_57405203delACC	ENST00000424094.2	-	0	819				GNAS-AS1_ENST00000598163.1_RNA	NR_002785.2				GNAS antisense RNA 1																		ccaccaccataccaccaccacca	0.527																																						ENST00000424094.2																			0																																																			0							g.chr20:57405201_57405203delACC	AJ251759		20q13.32	2012-10-19	2012-08-15	2010-11-25	ENSG00000235590	ENSG00000235590		"""Long non-coding RNAs"", ""-"""	24872	non-coding RNA	RNA, long non-coding	"""GNAS antisense"", ""non-protein coding RNA 75"""	610540	"""GNAS antisense RNA (non-protein coding)"", ""GNAS antisense RNA 1 (non-protein coding)"""	GNASAS, GNAS-AS		10749992	Standard	NR_002785		Approved	SANG, NESP-AS, NESPAS, GNAS1AS, NCRNA00075	uc002xzs.2		OTTHUMG00000060481		20.37:g.57405210_57405212delACC						GNAS-AS1_ENST00000598163.1_RNA		NR_002785.2						0	819	-									RNA	DEL	ENST00000424094.2	37																																																																																						0.527	GNAS-AS1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000133891.2	NR_002785		3	3						3	3	---	---	---	---
