#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
ELP2	55250	broad.mit.edu	37	18	33747151	33747151	+	Missense_Mutation	SNP	G	G	A	rs150412497		TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr18:33747151G>A	ENST00000358232.6	+	19	2105	c.2042G>A	c.(2041-2043)aGc>aAc	p.S681N	ELP2_ENST00000542824.1_Missense_Mutation_p.S611N|ELP2_ENST00000442325.2_Missense_Mutation_p.S746N|ELP2_ENST00000351393.6_Missense_Mutation_p.S655N|ELP2_ENST00000423854.2_Missense_Mutation_p.S611N|ELP2_ENST00000350494.6_Missense_Mutation_p.S676N	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	681					chromatin organization (GO:0006325)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						AGTCCTGACAGCAAGTATTTC	0.289																																						ENST00000358232.6																			0				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						c.(2041-2043)aGc>aAc		elongator acetyltransferase complex subunit 2							114.0	110.0	111.0					18																	33747151		2203	4300	6503	SO:0001583	missense	55250				regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex		g.chr18:33747151G>A	AK001741	CCDS11918.1, CCDS56065.1, CCDS56066.1, CCDS56067.1, CCDS56068.1, CCDS56069.1	18q12.1	2013-01-10	2012-08-08	2007-04-20	ENSG00000134759	ENSG00000134759		"""Elongator acetyltransferase complex subunits"", ""WD repeat domain containing"""	18248	protein-coding gene	gene with protein product			"""signal transducer and activator of transcription 3 interacting protein 1"", ""elongation protein 2 homolog (S. cerevisiae)"""	STATIP1		11714725, 10954736	Standard	NM_001242875		Approved	FLJ10879, StIP	uc002kzk.2	Q6IA86	OTTHUMG00000132589	ENST00000358232.6:c.2042G>A	18.37:g.33747151G>A	ENSP00000350967:p.Ser681Asn					ELP2_ENST00000351393.6_Missense_Mutation_p.S655N|ELP2_ENST00000542824.1_Missense_Mutation_p.S611N|ELP2_ENST00000423854.2_Missense_Mutation_p.S611N|ELP2_ENST00000442325.2_Missense_Mutation_p.S746N|ELP2_ENST00000350494.6_Missense_Mutation_p.S676N	p.S681N	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN			19	2105	+			681					A8KAI6|B4DTG0|B4DXP0|E7EP23|E9PCX0|Q53GZ0|Q687Y8|Q8N5C2|Q96GV4|Q96PI7|Q9H9N0|Q9NV81	Missense_Mutation	SNP	ENST00000358232.6	37	c.2042G>A	CCDS11918.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	13.73	2.322884	0.41096	.	.	ENSG00000134759	ENST00000358232;ENST00000351393;ENST00000442325;ENST00000423854;ENST00000350494;ENST00000542824	T;T;T;T;T;T	0.70516	-0.49;-0.49;1.02;-0.49;-0.04;-0.49	5.97	5.09	0.68999	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);WD40-repeat-containing domain (1);	0.318415	0.45606	N	0.000341	T	0.62036	0.2395	L	0.31065	0.9	0.47949	D	0.999555	B;B;B;B;B;B	0.18461	0.028;0.028;0.009;0.016;0.005;0.02	B;B;B;B;B;B	0.28784	0.094;0.094;0.059;0.035;0.025;0.059	T	0.59236	-0.7492	10	0.48119	T	0.1	-2.0734	13.4295	0.61046	0.0766:0.0:0.9234:0.0	.	676;746;611;611;655;681	B4DTG0;E7EP23;E9PCX0;Q6IA86-2;Q6IA86-3;Q6IA86	.;.;.;.;.;ELP2_HUMAN	N	681;655;746;611;676;611	ENSP00000350967:S681N;ENSP00000257191:S655N;ENSP00000414851:S746N;ENSP00000391202:S611N;ENSP00000316051:S676N;ENSP00000443800:S611N	ENSP00000316051:S676N	S	+	2	0	ELP2	32001149	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	5.104000	0.64584	1.505000	0.48720	0.655000	0.94253	AGC		0.289	ELP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255800.2	NM_018255		4	75	0	0	0	1	0	4	75				
GCKR	2646	broad.mit.edu	37	2	27746165	27746165	+	Silent	SNP	A	A	T			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr2:27746165A>T	ENST00000264717.2	+	19	1800	c.1737A>T	c.(1735-1737)ctA>ctT	p.L579L	GCKR_ENST00000424318.2_Silent_p.L389L	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	579					carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|negative regulation of glucokinase activity (GO:0033132)|positive regulation of glucokinase activity (GO:0033133)|protein import into nucleus, translocation (GO:0000060)|regulation of glucose transport (GO:0010827)|response to fructose (GO:0009750)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	carbohydrate binding (GO:0030246)|enzyme inhibitor activity (GO:0004857)|fructose-6-phosphate binding (GO:0070095)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					TGAGCCTCCTATTCCGGTGCT	0.592																																						ENST00000264717.2																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29						c.(1735-1737)ctA>ctT		glucokinase (hexokinase 4) regulator							61.0	52.0	55.0					2																	27746165		2203	4300	6503	SO:0001819	synonymous_variant	2646				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding	g.chr2:27746165A>T	Z48475	CCDS1757.1	2p23	2008-05-21	2004-05-20		ENSG00000084734	ENSG00000084734			4196	protein-coding gene	gene with protein product		600842	"""glucokinase (hexokinase 4) regulatory protein"""			9570959, 8662230	Standard	NM_001486		Approved		uc002rky.3	Q14397	OTTHUMG00000128426	ENST00000264717.2:c.1737A>T	2.37:g.27746165A>T						GCKR_ENST00000424318.2_Silent_p.L389L	p.L579L	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN			19	1800	+	Acute lymphoblastic leukemia(172;0.155)		579					A1L4C2|B4DPQ2|Q53RY6|Q99522	Silent	SNP	ENST00000264717.2	37	c.1737A>T	CCDS1757.1																																																																																				0.592	GCKR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250214.1	NM_001486		8	19	0	0	0	1	0	8	19				
GAGE2A	729447	broad.mit.edu	37	X	49355893	49355893	+	Missense_Mutation	SNP	C	C	G	rs59641550		TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chrX:49355893C>G	ENST00000362097.1	+	3	258	c.175C>G	c.(175-177)Cag>Gag	p.Q59E		NM_001127212.1	NP_001120684.1	Q6NT46	GAG2A_HUMAN	G antigen 2A	59								p.Q59E(8)		endometrium(4)	4	Ovarian(276;0.236)					TCAGGAGGGACAGGATGAGGG	0.562																																						ENST00000362097.1																			8	Substitution - Missense(8)	p.Q59E(8)	endometrium(8)	endometrium(4)	4						c.(175-177)Cag>Gag		G antigen 2A																																				SO:0001583	missense	729447							g.chrX:49355893C>G	U19143	CCDS48114.1	Xp11.23	2009-03-17	2007-07-23	2007-07-23	ENSG00000189064	ENSG00000189064			4099	protein-coding gene	gene with protein product	"""cancer/testis antigen family 4, member 2"""	300720	"""G antigen 2"""	GAGE2		7544395	Standard	NM_001127212		Approved	CT4.2		Q6NT46	OTTHUMG00000024143	ENST00000362097.1:c.175C>G	X.37:g.49355893C>G	ENSP00000355421:p.Gln59Glu						p.Q59E	NM_001127212.1	NP_001120684.1					3	258	+	Ovarian(276;0.236)								Missense_Mutation	SNP	ENST00000362097.1	37	c.175C>G	CCDS48114.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.861266	0.00064	.	.	ENSG00000189064	ENST00000362097	T	0.05447	3.44	0.869	-1.69	0.08186	.	.	.	.	.	T	0.00815	0.0027	N	0.00035	-2.545	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.34104	-0.9842	8	0.02654	T	1	.	3.0546	0.06180	0.33:0.2512:0.4188:0.0	.	59	Q6NT46	GAG2A_HUMAN	E	59	ENSP00000355421:Q59E	ENSP00000355421:Q59E	Q	+	1	0	GAGE2A	49242837	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-1.119000	0.03276	-1.599000	0.01605	-0.870000	0.02990	CAG		0.562	GAGE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060827.3			5	668	0	0	0	1	0	5	668				
LOC100294341	100294341	broad.mit.edu	37	17	43596429	43596429	+	RNA	SNP	C	C	T			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr17:43596429C>T	ENST00000253803.2	+	0	267																											TCACTTTTTGCCGGTTTTGGC	0.488																																						ENST00000253803.2																			0																																																			0							g.chr17:43596429C>T																													17.37:g.43596429C>T														0	267	+									RNA	SNP	ENST00000253803.2	37																																																																																						0.488	RP11-798G7.5-201	KNOWN	basic	antisense	antisense				4	171	0	0	0	1	0	4	171				
SYNCRIP	10492	broad.mit.edu	37	6	86324853	86324853	+	Missense_Mutation	SNP	C	C	A			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr6:86324853C>A	ENST00000369622.3	-	11	1993	c.1493G>T	c.(1492-1494)aGg>aTg	p.R498M	SYNCRIP_ENST00000355238.6_Missense_Mutation_p.R498M|RP11-321N4.5_ENST00000503906.1_Missense_Mutation_p.G34W	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	498	8 X 3 AA repeats of R-G-G.|Interaction with APOBEC1.				cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		TCTACCACCCCTTCCTCTAGC	0.478																																						ENST00000355238.6																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(1492-1494)aGg>aTg		synaptotagmin binding, cytoplasmic RNA interacting protein							62.0	58.0	59.0					6																	86324853		2203	4300	6503	SO:0001583	missense	10492				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding	g.chr6:86324853C>A	AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"""RNA binding motif (RRM) containing"""	16918	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein Q"""					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.1493G>T	6.37:g.86324853C>A	ENSP00000358635:p.Arg498Met					RP11-321N4.5_ENST00000503906.1_Missense_Mutation_p.G34W|SYNCRIP_ENST00000369622.3_Missense_Mutation_p.R498M	p.R498M	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0389)	11	1699	-		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)	498			8 X 3 AA repeats of R-G-G.|Interaction with APOBEC1.		E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Missense_Mutation	SNP	ENST00000369622.3	37	c.1493G>T	CCDS5005.1	.	.	.	.	.	.	.	.	.	.	C	13.25	2.180467	0.38511	.	.	ENSG00000135316	ENST00000355238;ENST00000369622	T;T	0.29397	1.57;1.57	5.4	4.51	0.55191	.	0.044666	0.85682	D	0.000000	T	0.21145	0.0509	M	0.63843	1.955	0.80722	D	1	P;P;B;B;P;P;B	0.47910	0.742;0.902;0.054;0.264;0.729;0.478;0.346	B;B;B;B;B;B;B	0.41946	0.205;0.371;0.085;0.176;0.371;0.371;0.135	T	0.02457	-1.1156	10	0.34782	T	0.22	.	15.908	0.79445	0.0:0.8643:0.1357:0.0	.	498;463;400;346;463;498;498	O60506;O60506-2;B7Z645;O60506-5;O60506-4;O60506-3;B2R8Z8	HNRPQ_HUMAN;.;.;.;.;.;.	M	498	ENSP00000347380:R498M;ENSP00000358635:R498M	ENSP00000347380:R498M	R	-	2	0	SYNCRIP	86381572	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	1.233000	0.43693	0.563000	0.77884	AGG		0.478	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041396.1	NM_006372		4	40	1	0	1	1	1	4	40				
ANKRD27	84079	broad.mit.edu	37	19	33140667	33140667	+	Missense_Mutation	SNP	C	C	G			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr19:33140667C>G	ENST00000306065.4	-	3	292	c.134G>C	c.(133-135)aGc>aCc	p.S45T	ANKRD27_ENST00000587352.1_Missense_Mutation_p.S45T	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	45					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					CTGGATGCTGCTCGACAGGCT	0.448																																						ENST00000306065.4																			0				breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42						c.(133-135)aGc>aCc		ankyrin repeat domain 27 (VPS9 domain)							148.0	152.0	151.0					19																	33140667		2203	4300	6503	SO:0001583	missense	84079				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr19:33140667C>G	AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"""Ankyrin repeat domain containing"""	25310	protein-coding gene	gene with protein product	"""Vps9 domain and ankyrin-repeat-containing protein"""					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.134G>C	19.37:g.33140667C>G	ENSP00000304292:p.Ser45Thr					ANKRD27_ENST00000587352.1_Missense_Mutation_p.S45T|ANKRD27_ENST00000586693.2_5'UTR	p.S45T	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN			3	292	-	Esophageal squamous(110;0.137)		45					Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Missense_Mutation	SNP	ENST00000306065.4	37	c.134G>C	CCDS32986.1	.	.	.	.	.	.	.	.	.	.	C	4.423	0.078184	0.08485	.	.	ENSG00000105186	ENST00000306065	T	0.62364	0.03	6.16	5.12	0.69794	.	0.081822	0.52532	D	0.000066	T	0.47266	0.1436	L	0.27053	0.805	0.09310	N	0.999999	B	0.02656	0.0	B	0.06405	0.002	T	0.32981	-0.9886	10	0.31617	T	0.26	-9.9707	10.913	0.47120	0.0:0.8023:0.131:0.0667	.	45	Q96NW4	ANR27_HUMAN	T	45	ENSP00000304292:S45T	ENSP00000304292:S45T	S	-	2	0	ANKRD27	37832507	0.987000	0.35691	0.042000	0.18584	0.004000	0.04260	1.528000	0.35985	1.608000	0.50180	0.650000	0.86243	AGC		0.448	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139		14	135	0	0	0	1	0	14	135				
FNDC1	84624	broad.mit.edu	37	6	159653589	159653589	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr6:159653589G>A	ENST00000297267.9	+	11	2245	c.2045G>A	c.(2044-2046)cGc>cAc	p.R682H	FNDC1_ENST00000340366.6_Missense_Mutation_p.R619H	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	682	Ser-rich.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R682H(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AGCGTTCTCCGCGACAGAAGC	0.716																																						ENST00000297267.9																			1	Substitution - Missense(1)	p.R682H(1)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(2044-2046)cGc>cAc		fibronectin type III domain containing 1							15.0	18.0	17.0					6																	159653589		1954	4109	6063	SO:0001583	missense	84624					extracellular region		g.chr6:159653589G>A	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.2045G>A	6.37:g.159653589G>A	ENSP00000297267:p.Arg682His					FNDC1_ENST00000340366.6_Missense_Mutation_p.R619H	p.R682H	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	2245	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	682			Ser-rich.		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.2045G>A	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.251546	0.39797	.	.	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.09445	2.98;3.86	4.87	0.863	0.19062	.	0.929336	0.09006	N	0.862294	T	0.02455	0.0075	L	0.34521	1.04	0.09310	N	1	B;B	0.13594	0.008;0.004	B;B	0.13407	0.009;0.002	T	0.45308	-0.9270	10	0.46703	T	0.11	-2.4532	4.2237	0.10570	0.2908:0.1701:0.5391:0.0	.	619;682	Q4ZHG4-2;Q4ZHG4	.;FNDC1_HUMAN	H	682;619	ENSP00000297267:R682H;ENSP00000342460:R619H	ENSP00000297267:R682H	R	+	2	0	FNDC1	159573579	0.029000	0.19370	0.000000	0.03702	0.070000	0.16714	2.496000	0.45346	0.488000	0.27723	-0.122000	0.15005	CGC		0.716	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		3	34	0	0	0	1	0	3	34				
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C	rs369326402	byFrequency	TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597																																						ENST00000463781.3																			10	Substitution - Missense(10)	p.H4205Q(10)	kidney(4)|prostate(3)|urinary_tract(2)|endometrium(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(12613-12615)caC>caG		mucin 4, cell surface associated							15.0	14.0	14.0					3																	195505836		687	1573	2260	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195505836G>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12615C>G	3.37:g.195505836G>C	ENSP00000417498:p.His4205Gln					MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q	p.H4205Q	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	13074	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	968					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.12615C>G	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	0.099	-1.155501	0.01686	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.30448	1.55;1.53	.	.	.	.	.	.	.	.	T	0.17619	0.0423	N	0.19112	0.55	0.21950	N	0.999454	P	0.35208	0.49	B	0.40038	0.317	T	0.24368	-1.0162	6	.	.	.	.	.	.	.	.	4077	E7ESK3	.	Q	4205	ENSP00000417498:H4205Q;ENSP00000420243:H4205Q	.	H	-	3	2	MUC4	196990615	.	.	0.016000	0.15963	0.046000	0.14306	.	.	-0.849000	0.04158	0.074000	0.15403	CAC		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		4	9	0	0	0	1	0	4	9				
AGXT2	64902	broad.mit.edu	37	5	35014092	35014092	+	Splice_Site	SNP	C	C	G			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr5:35014092C>G	ENST00000231420.6	-	10	1296	c.1096G>C	c.(1096-1098)Gag>Cag	p.E366Q		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	366					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process, by transamination (GO:0019481)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity (GO:0047305)|alanine-glyoxylate transaminase activity (GO:0008453)|beta-alanine-pyruvate transaminase activity (GO:0016223)|pyridoxal phosphate binding (GO:0030170)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyruvic acid(DB00119)	TGGGTCCTACCTGGAGTGGTT	0.507																																						ENST00000231420.6																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41						c.e10+1		alanine--glyoxylate aminotransferase 2	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)						204.0	163.0	177.0					5																	35014092		2203	4300	6503	SO:0001630	splice_region_variant	64902				glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	g.chr5:35014092C>G	AJ292204	CCDS3908.1	5p13	2010-05-07	2010-05-07		ENSG00000113492	ENSG00000113492	2.6.1.44		14412	protein-coding gene	gene with protein product	"""beta-alanine-pyruvate aminotransferase"", ""beta-ALAAT II"""	612471	"""alanine-glyoxylate aminotransferase 2"""			15240345	Standard	NM_031900		Approved	AGT2	uc003jjf.3	Q9BYV1	OTTHUMG00000090788	ENST00000231420.6:c.1096+1G>C	5.37:g.35014092C>G							p.E366_splice	NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	10	1296	-	all_lung(31;4.52e-05)		366					B7ZM47|E9PDL7|Q53FB4|Q53FY7|Q53G03|Q5W7Q1	Splice_Site	SNP	ENST00000231420.6	37	c.1096_splice	CCDS3908.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.105644	0.77096	.	.	ENSG00000113492	ENST00000231420	T	0.24350	1.86	5.88	5.88	0.94601	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.046579	0.85682	D	0.000000	T	0.51346	0.1669	M	0.81341	2.54	0.80722	D	1	D	0.63046	0.992	P	0.59012	0.85	T	0.49532	-0.8930	9	.	.	.	-15.6581	18.7904	0.91971	0.0:1.0:0.0:0.0	.	366	Q9BYV1	AGT2_HUMAN	Q	366	ENSP00000231420:E366Q	.	E	-	1	0	AGXT2	35049849	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	6.892000	0.75644	2.769000	0.95229	0.655000	0.94253	GAG		0.507	AGXT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207574.2	NM_031900	Missense_Mutation	33	45	0	0	0	1	0	33	45				
FIGN	55137	broad.mit.edu	37	2	164467412	164467412	+	Missense_Mutation	SNP	G	G	C			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr2:164467412G>C	ENST00000333129.3	-	3	1244	c.930C>G	c.(928-930)aaC>aaG	p.N310K	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'Flank	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	310					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						TTGCTGAACTGTTTGTCAGAG	0.512																																						ENST00000333129.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						c.(928-930)aaC>aaG		fidgetin							76.0	78.0	77.0					2																	164467412		1972	4151	6123	SO:0001583	missense	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164467412G>C	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.930C>G	2.37:g.164467412G>C	ENSP00000333836:p.Asn310Lys					FIGN_ENST00000409634.1_Intron	p.N310K	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN			3	1244	-			310					B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	ENST00000333129.3	37	c.930C>G	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	G	12.37	1.918886	0.33908	.	.	ENSG00000182263	ENST00000333129	D	0.91792	-2.91	5.73	5.73	0.89815	.	0.260763	0.44688	D	0.000425	D	0.84147	0.5408	N	0.22421	0.69	0.51767	D	0.999932	B	0.20261	0.043	B	0.19391	0.025	T	0.77474	-0.2574	10	0.06365	T	0.9	-4.9171	13.1512	0.59490	0.0728:0.0:0.9271:0.0	.	310	Q5HY92	FIGN_HUMAN	K	310	ENSP00000333836:N310K	ENSP00000333836:N310K	N	-	3	2	FIGN	164175658	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.667000	0.68067	2.705000	0.92388	0.563000	0.77884	AAC		0.512	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		5	47	0	0	0	1	0	5	47				
HS3ST6	64711	broad.mit.edu	37	16	1962141	1962141	+	Missense_Mutation	SNP	G	G	A	rs200566367	byFrequency	TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr16:1962141G>A	ENST00000293937.3	-	2	478	c.479C>T	c.(478-480)aCg>aTg	p.T160M	HS3ST6_ENST00000443547.1_Missense_Mutation_p.T129M|HS3ST6_ENST00000454677.2_Missense_Mutation_p.T177M			Q96QI5	HS3S6_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 6	160					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			endometrium(2)|lung(2)	4						GGCCTCTCGCGTCACGAAGTA	0.677													g|||	3	0.000599042	0.0	0.0	5008	,	,		11362	0.0		0.003	False		,,,				2504	0.0					ENST00000454677.2																			0				endometrium(2)|lung(2)	4						c.(529-531)aCg>aTg		heparan sulfate (glucosamine) 3-O-sulfotransferase 6		G	MET/THR	1,4385		0,1,2192	15.0	18.0	17.0		386	4.8	0.9	16		17	14,8576		0,14,4281	yes	missense	HS3ST6	NM_001009606.2	81	0,15,6473	AA,AG,GG		0.163,0.0228,0.1156	probably-damaging	129/312	1962141	15,12961	2193	4295	6488	SO:0001583	missense	64711							g.chr16:1962141G>A			16p13.3	2008-10-30	2003-06-11	2003-06-13	ENSG00000162040	ENSG00000162040		"""Sulfotransferases, membrane-bound"""	14178	protein-coding gene	gene with protein product			"""heparan sulfate (glucosamine) 3-O-sulfotransferase 5"""	HS3ST5		11157797	Standard	NM_001009606		Approved		uc002cnf.3	Q96QI5	OTTHUMG00000047860	ENST00000293937.3:c.479C>T	16.37:g.1962141G>A	ENSP00000293937:p.Thr160Met					HS3ST6_ENST00000443547.1_Missense_Mutation_p.T129M|HS3ST6_ENST00000293937.3_Missense_Mutation_p.T160M	p.T177M			C9JH64	C9JH64_HUMAN			2	595	-			129					Q96RX7	Missense_Mutation	SNP	ENST00000293937.3	37	c.530C>T		2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	g	21.2	4.111889	0.77210	2.28E-4	0.00163	ENSG00000162040	ENST00000293937;ENST00000443547;ENST00000454677	D;D	0.82167	-1.58;-1.58	4.83	4.83	0.62350	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.93585	0.7952	H	0.94306	3.52	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95450	0.8533	10	0.87932	D	0	.	16.9711	0.86300	0.0:0.0:1.0:0.0	.	160	Q96QI5	HS3S6_HUMAN	M	160;129;199	ENSP00000293937:T160M;ENSP00000390354:T129M	ENSP00000293937:T160M	T	-	2	0	HS3ST6	1902142	1.000000	0.71417	0.925000	0.36789	0.621000	0.37620	7.728000	0.84847	2.248000	0.74166	0.500000	0.49745	ACG		0.677	HS3ST6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001009606		7	17	0	0	0	1	0	7	17				
SEMA4G	57715	broad.mit.edu	37	10	102732921	102732921	+	Missense_Mutation	SNP	C	C	G			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr10:102732921C>G	ENST00000370250.4	+	2	533	c.160C>G	c.(160-162)Cag>Gag	p.Q54E	SEMA4G_ENST00000210633.3_Missense_Mutation_p.Q54E|MIR608_ENST00000384820.1_RNA|SEMA4G_ENST00000519756.1_3'UTR|SEMA4G_ENST00000517724.1_Missense_Mutation_p.Q54E	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	54	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		GGGCCAAGCCCAGAACTACTC	0.627																																						ENST00000210633.3																			0				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(160-162)Cag>Gag		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G							42.0	43.0	43.0					10																	102732921		2203	4300	6503	SO:0001583	missense	57715				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr10:102732921C>G	AB046839	CCDS7501.1, CCDS55724.1	10q24.31	2013-01-11			ENSG00000095539	ENSG00000095539		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10735	protein-coding gene	gene with protein product							Standard	NM_017893		Approved	FLJ20590, KIAA1619	uc001krw.2	Q9NTN9	OTTHUMG00000018922	ENST00000370250.4:c.160C>G	10.37:g.102732921C>G	ENSP00000359270:p.Gln54Glu					SEMA4G_ENST00000519756.1_3'UTR|SEMA4G_ENST00000517724.1_Missense_Mutation_p.Q54E|SEMA4G_ENST00000370250.4_Missense_Mutation_p.Q54E	p.Q54E			Q9NTN9	SEM4G_HUMAN		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)	2	238	+		Colorectal(252;0.234)	54			Sema.		A1A5C6|A6NJY8|Q58EY1|Q9HCF3	Missense_Mutation	SNP	ENST00000370250.4	37	c.160C>G		.	.	.	.	.	.	.	.	.	.	C	12.39	1.924396	0.34002	.	.	ENSG00000095539	ENST00000519649;ENST00000518124;ENST00000457585;ENST00000370250;ENST00000517724;ENST00000210633	T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63	5.12	5.12	0.69794	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.399676	0.26000	N	0.026946	T	0.32675	0.0837	M	0.69358	2.11	0.32689	N	0.514493	B;P;B	0.34546	0.121;0.456;0.125	B;B;B	0.29077	0.025;0.09;0.098	T	0.46803	-0.9165	10	0.30854	T	0.27	.	17.1147	0.86685	0.0:1.0:0.0:0.0	.	54;54;54	Q9NTN9;A1A5C6;Q9NTN9-2	SEM4G_HUMAN;.;.	E	54	ENSP00000428896:Q54E;ENSP00000430103:Q54E;ENSP00000359270:Q54E;ENSP00000430175:Q54E;ENSP00000210633:Q54E	ENSP00000210633:Q54E	Q	+	1	0	SEMA4G	102722911	0.001000	0.12720	1.000000	0.80357	0.664000	0.39144	1.037000	0.30241	2.353000	0.79882	0.585000	0.79938	CAG		0.627	SEMA4G-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049920.2			9	10	0	0	0	1	0	9	10				
DCHS2	54798	broad.mit.edu	37	4	155237056	155237056	+	Missense_Mutation	SNP	G	G	T			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr4:155237056G>T	ENST00000357232.4	-	15	3738	c.3739C>A	c.(3739-3741)Cca>Aca	p.P1247T		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1247	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GAAAGTGCTGGTGTGCCATCA	0.408																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(3739-3741)Cca>Aca		dachsous cadherin-related 2							124.0	117.0	119.0					4																	155237056		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155237056G>T	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.3739C>A	4.37:g.155237056G>T	ENSP00000349768:p.Pro1247Thr						p.P1247T	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	15	3738	-	all_hematologic(180;0.208)	Renal(120;0.0854)	1247			Cadherin 10.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.3739C>A	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998623	0.74818	.	.	ENSG00000197410	ENST00000357232	T	0.56275	0.47	5.25	5.25	0.73442	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000002	T	0.78207	0.4247	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.81611	-0.0854	10	0.59425	D	0.04	.	19.2148	0.93772	0.0:0.0:1.0:0.0	.	1247	Q6V1P9	PCD23_HUMAN	T	1247	ENSP00000349768:P1247T	ENSP00000349768:P1247T	P	-	1	0	DCHS2	155456506	1.000000	0.71417	0.128000	0.21923	0.767000	0.43475	9.174000	0.94824	2.630000	0.89119	0.460000	0.39030	CCA		0.408	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		17	23	1	0	2.48551e-13	1	2.74263e-13	17	23				
FSCB	84075	broad.mit.edu	37	14	44975667	44975667	+	Missense_Mutation	SNP	G	G	T			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr14:44975667G>T	ENST00000340446.4	-	1	815	c.524C>A	c.(523-525)aCa>aAa	p.T175K	RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000556228.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	175						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CTTTGACTTTGTAGAAGAACT	0.388																																						ENST00000340446.4																			0				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89						c.(523-525)aCa>aAa		fibrous sheath CABYR binding protein							159.0	164.0	162.0					14																	44975667		2203	4300	6503	SO:0001583	missense	84075					cilium		g.chr14:44975667G>T	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.524C>A	14.37:g.44975667G>T	ENSP00000344579:p.Thr175Lys						p.T175K	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	815	-			175					Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.524C>A	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.317048	0.23908	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.22336	1.96	4.58	1.71	0.24356	.	.	.	.	.	T	0.19127	0.0459	L	0.29908	0.895	0.09310	N	1	P	0.46512	0.879	P	0.47744	0.556	T	0.10497	-1.0627	9	0.49607	T	0.09	-1.0787	6.9797	0.24696	0.3743:0.0:0.6257:0.0	.	175	Q5H9T9	FSCB_HUMAN	K	175	ENSP00000344579:T175K	ENSP00000344579:T175K	T	-	2	0	FSCB	44045417	0.000000	0.05858	0.004000	0.12327	0.054000	0.15201	-0.642000	0.05427	0.269000	0.21961	0.609000	0.83330	ACA		0.388	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		29	136	1	0	1.16021e-09	1	1.25853e-09	29	136				
ANKRD36C	400986	broad.mit.edu	37	2	96593016	96593016	+	Missense_Mutation	SNP	C	C	A	rs79307257		TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr2:96593016C>A	ENST00000456556.1	-	28	1969	c.1885G>T	c.(1885-1887)Gat>Tat	p.D629Y	ANKRD36C_ENST00000420871.2_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000295246.5_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	629							ion channel inhibitor activity (GO:0008200)	p.D629Y(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GAAACAGAATCTTTCTCATCA	0.318																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.D629Y(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1885-1887)Gat>Tat		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593016C>A	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1885G>T	2.37:g.96593016C>A	ENSP00000403302:p.Asp629Tyr						p.D629Y							28	1969	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1885G>T		.	.	.	.	.	.	.	.	.	.	c	9.675	1.147829	0.21288	.	.	ENSG00000174501	ENST00000456556	T	0.77489	-1.1	0.578	0.578	0.17391	.	.	.	.	.	T	0.79540	0.4463	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.70428	-0.4874	6	0.72032	D	0.01	.	.	.	.	.	.	.	.	Y	629	ENSP00000403302:D629Y	ENSP00000403302:D629Y	D	-	1	0	AC073995.2	95956743	0.004000	0.15560	0.041000	0.18516	0.061000	0.15899	0.559000	0.23485	0.573000	0.29400	0.194000	0.17425	GAT		0.318	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		3	45	1	0	0.014758	1	0.0154838	3	45				
ZFP37	7539	broad.mit.edu	37	9	115805369	115805369	+	Missense_Mutation	SNP	G	G	C			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr9:115805369G>C	ENST00000374227.3	-	4	1556	c.1529C>G	c.(1528-1530)aCt>aGt	p.T510S	ZFP37_ENST00000555206.1_Missense_Mutation_p.T511S|ZFP37_ENST00000553380.1_Missense_Mutation_p.T525S	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	510					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						ACCTGTATGAGTTCTCATATG	0.358																																						ENST00000374227.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						c.(1528-1530)aCt>aGt		ZFP37 zinc finger protein							74.0	74.0	74.0					9																	115805369		2203	4300	6503	SO:0001583	missense	7539					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:115805369G>C	AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"""Zinc fingers, C2H2-type"", ""-"""	12863	protein-coding gene	gene with protein product		602951	"""zinc finger protein homologous to Zfp37 in mouse"", ""zinc finger protein 37 homolog (mouse)"""				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.1529C>G	9.37:g.115805369G>C	ENSP00000363344:p.Thr510Ser					ZFP37_ENST00000555206.1_Missense_Mutation_p.T511S|ZFP37_ENST00000553380.1_Missense_Mutation_p.T525S	p.T510S			Q9Y6Q3	ZFP37_HUMAN			4	1556	-			510					A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Missense_Mutation	SNP	ENST00000374227.3	37	c.1529C>G	CCDS6787.1	.	.	.	.	.	.	.	.	.	.	G	10.08	1.251881	0.22880	.	.	ENSG00000136866	ENST00000374227;ENST00000555206;ENST00000553380	T;T;T	0.07567	3.18;3.18;3.18	4.32	4.32	0.51571	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45606	D	0.000350	T	0.06554	0.0168	L	0.29908	0.895	0.23277	N	0.997993	P;P;B	0.40107	0.703;0.703;0.164	B;B;B	0.36030	0.216;0.216;0.147	T	0.30592	-0.9973	10	0.51188	T	0.08	-3.5427	10.6022	0.45373	0.0:0.1948:0.8052:0.0	.	511;525;510	G3V3L7;Q9Y6Q3-2;Q9Y6Q3	.;.;ZFP37_HUMAN	S	510;511;525	ENSP00000363344:T510S;ENSP00000451310:T511S;ENSP00000452552:T525S	ENSP00000363344:T510S	T	-	2	0	ZFP37	114845190	0.000000	0.05858	1.000000	0.80357	0.997000	0.91878	0.569000	0.23638	2.681000	0.91329	0.655000	0.94253	ACT		0.358	ZFP37-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055439.1	NM_003408		40	50	0	0	0	1	0	40	50				
KCNQ2	3785	broad.mit.edu	37	20	62070978	62070978	+	Silent	SNP	G	G	A			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr20:62070978G>A	ENST00000359125.2	-	6	1074	c.900C>T	c.(898-900)atC>atT	p.I300I	KCNQ2_ENST00000344462.4_Silent_p.I300I|KCNQ2_ENST00000370224.1_Silent_p.I300I|KCNQ2_ENST00000357249.2_Silent_p.I300I|KCNQ2_ENST00000359689.1_Silent_p.I300I|KCNQ2_ENST00000354587.3_Silent_p.I300I|KCNQ2_ENST00000344425.5_Silent_p.I300I|KCNQ2_ENST00000360480.3_Silent_p.I300I	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	300					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	AGGAGACACCGATGAGGGTGA	0.642																																						ENST00000354587.3																			0				biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(898-900)atC>atT		potassium voltage-gated channel, KQT-like subfamily, member 2	Amitriptyline(DB00321)						199.0	149.0	166.0					20																	62070978		2203	4300	6503	SO:0001819	synonymous_variant	3785				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:62070978G>A	AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.900C>T	20.37:g.62070978G>A						KCNQ2_ENST00000344462.3_Silent_p.I300I|KCNQ2_ENST00000344425.5_Silent_p.I300I|KCNQ2_ENST00000357249.2_Silent_p.I300I|KCNQ2_ENST00000370222.3_Silent_p.I300I|KCNQ2_ENST00000359125.2_Silent_p.I300I|KCNQ2_ENST00000359689.1_Silent_p.I300I|KCNQ2_ENST00000370226.1_Silent_p.I300I|KCNQ2_ENST00000360480.3_Silent_p.I300I|KCNQ2_ENST00000370221.1_Silent_p.I300I|KCNQ2_ENST00000430658.1_Silent_p.I300I|KCNQ2_ENST00000370224.1_Silent_p.I300I	p.I300I			O43526	KCNQ2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		6	1076	-	all_cancers(38;1.24e-11)		300					O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Silent	SNP	ENST00000359125.2	37	c.900C>T	CCDS13520.1																																																																																				0.642	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	NM_172109		15	16	0	0	0	1	0	15	16				
ZCCHC12	170261	broad.mit.edu	37	X	117959898	117959898	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chrX:117959898C>T	ENST00000310164.2	+	4	1198	c.691C>T	c.(691-693)Cgt>Tgt	p.R231C		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	231					BMP signaling pathway (GO:0030509)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						TAAACGGAAGCGTCCAAAAAG	0.498																																						ENST00000310164.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						c.(691-693)Cgt>Tgt		zinc finger, CCHC domain containing 12							62.0	54.0	56.0					X																	117959898		2203	4300	6503	SO:0001583	missense	170261				regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	g.chrX:117959898C>T	AK122676	CCDS14574.1	Xq24	2013-10-11			ENSG00000174460	ENSG00000174460		"""Zinc fingers, CCHC domain containing"", ""Paraneoplastic Ma antigens"""	27273	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 7A"""	300701				21739307, 19578717	Standard	NM_173798		Approved	FLJ16123, SIZN, SIZN1, PNMA7A	uc004equ.3	Q6PEW1	OTTHUMG00000022261	ENST00000310164.2:c.691C>T	X.37:g.117959898C>T	ENSP00000308921:p.Arg231Cys						p.R231C	NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN			4	1198	+			231					B3KV48|Q6PID5|Q8N1C1	Missense_Mutation	SNP	ENST00000310164.2	37	c.691C>T	CCDS14574.1	.	.	.	.	.	.	.	.	.	.	C	7.376	0.627822	0.14257	.	.	ENSG00000174460	ENST00000310164	T	0.42900	0.96	2.96	2.07	0.26955	.	.	.	.	.	T	0.54240	0.1846	M	0.78223	2.4	0.21553	N	0.999649	D	0.71674	0.998	P	0.56474	0.799	T	0.42430	-0.9452	9	0.66056	D	0.02	-8.8531	6.4553	0.21926	0.2891:0.7109:0.0:0.0	.	231	Q6PEW1	ZCH12_HUMAN	C	231	ENSP00000308921:R231C	ENSP00000308921:R231C	R	+	1	0	ZCCHC12	117843926	1.000000	0.71417	0.248000	0.24265	0.020000	0.10135	0.929000	0.28844	0.626000	0.30322	-0.242000	0.12053	CGT		0.498	ZCCHC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058014.1	NM_173798		4	15	0	0	0	1	0	4	15				
WDR3	10885	broad.mit.edu	37	1	118476063	118476063	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr1:118476063G>A	ENST00000349139.5	+	2	168	c.121G>A	c.(121-123)Gta>Ata	p.V41I	WDR3_ENST00000369441.3_Intron|WDR3_ENST00000471680.1_3'UTR	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	41						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TTATGTGGCAGTACCAGCTTG	0.438																																						ENST00000349139.4																			0				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49						c.(121-123)Gta>Ata		WD repeat domain 3							217.0	179.0	192.0					1																	118476063		2203	4300	6503	SO:0001583	missense	10885					nuclear membrane|nucleolus		g.chr1:118476063G>A	AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"""WD repeat domain containing"""	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.121G>A	1.37:g.118476063G>A	ENSP00000308179:p.Val41Ile					WDR3_ENST00000369441.3_Intron|WDR3_ENST00000471680.1_3'UTR	p.V41I	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)	2	168	+	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)	41						Missense_Mutation	SNP	ENST00000349139.5	37	c.121G>A	CCDS898.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.966398	0.92855	.	.	ENSG00000065183	ENST00000349139	D	0.81579	-1.51	5.19	5.19	0.71726	WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.111003	0.64402	D	0.000011	T	0.80248	0.4588	M	0.84219	2.685	0.80722	D	1	P	0.46395	0.877	B	0.43194	0.411	T	0.82878	-0.0239	9	.	.	.	-7.5478	18.7146	0.91671	0.0:0.0:1.0:0.0	.	41	Q9UNX4	WDR3_HUMAN	I	41	ENSP00000308179:V41I	.	V	+	1	0	WDR3	118277586	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.375000	0.97178	2.403000	0.81681	0.655000	0.94253	GTA		0.438	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033720.2	NM_006784		4	96	0	0	0	1	0	4	96				
NBPF20	100288142	broad.mit.edu	37	1	148344742	148344742	+	Splice_Site	SNP	T	T	G	rs368207264		TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr1:148344742T>G	ENST00000369202.1	-	3	373	c.176A>C	c.(175-177)aAc>aCc	p.N59T	NBPF20_ENST00000414710.2_Splice_Site_p.N59T			Q3BBV1	NBPFK_HUMAN	neuroblastoma breakpoint family, member 20	59						cytoplasm (GO:0005737)				breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						CTCTTCATAGTCTGAGAAAAG	0.512																																						ENST00000369202.1																			0				breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						c.e3-1		neuroblastoma breakpoint family, member 20							69.0	70.0	70.0					1																	148344742		1785	3891	5676	SO:0001630	splice_region_variant	100288142							g.chr1:148344742T>G		CCDS72856.1	1q21.2	2014-01-16			ENSG00000203832			"""neuroblastoma breakpoint family"""	32000	protein-coding gene	gene with protein product		614007				16079250	Standard	NM_001278267		Approved			Q3BBV1	OTTHUMG00000042439	ENST00000369202.1:c.176-1A>C	1.37:g.148344742T>G						NBPF20_ENST00000414710.2_Splice_Site_p.N59_splice	p.N59_splice							3	373	-									Splice_Site	SNP	ENST00000369202.1	37	c.175_splice		.	.	.	.	.	.	.	.	.	.	.	3.187	-0.166623	0.06461	.	.	ENSG00000203832	ENST00000369202;ENST00000369188;ENST00000414710	T;T;T	0.03831	4.11;4.21;3.79	0.521	0.521	0.17046	.	.	.	.	.	T	0.01421	0.0046	.	.	.	0.24134	N	0.995756	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41822	-0.9487	6	0.62326	D	0.03	.	.	.	.	.	59;59	Q6P3W6;F5H1Q5	NBPFA_HUMAN;.	T	59	ENSP00000358203:N59T;ENSP00000358189:N59T;ENSP00000389520:N59T	ENSP00000358189:N59T	N	-	2	0	NBPF20	146711366	0.844000	0.29557	0.054000	0.19295	0.015000	0.08874	0.821000	0.27338	0.442000	0.26555	0.155000	0.16302	AAC		0.512	NBPF20-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000100689.2		Missense_Mutation	6	240	0	0	0	1	0	6	240				
RAB11FIP5	26056	broad.mit.edu	37	2	73316401	73316401	+	Silent	SNP	T	T	C			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr2:73316401T>C	ENST00000258098.6	-	2	714	c.474A>G	c.(472-474)gaA>gaG	p.E158E	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	158					cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						TCTCGCCGCGTTCCTTCTCCT	0.582																																						ENST00000258098.6																			0				biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						c.(472-474)gaA>gaG		RAB11 family interacting protein 5 (class I)							305.0	288.0	294.0					2																	73316401		2203	4300	6503	SO:0001819	synonymous_variant	26056				protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding	g.chr2:73316401T>C	AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.474A>G	2.37:g.73316401T>C						RAB11FIP5_ENST00000493523.2_5'UTR	p.E158E	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN			2	714	-			158					O94939|Q9P0M1	Silent	SNP	ENST00000258098.6	37	c.474A>G	CCDS1923.1																																																																																				0.582	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251995.1	NM_015470		36	229	0	0	0	1	0	36	229				
THBS3	7059	broad.mit.edu	37	1	155173028	155173028	+	Missense_Mutation	SNP	C	C	T	rs372530953		TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr1:155173028C>T	ENST00000368378.3	-	6	762	c.742G>A	c.(742-744)Gat>Aat	p.D248N	RP11-263K19.4_ENST00000436772.1_RNA|RP11-263K19.4_ENST00000454348.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.D128N|RP11-263K19.4_ENST00000422665.1_RNA|RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000541990.1_5'UTR|THBS3_ENST00000541576.1_5'Flank|RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000486260.1_5'UTR|RP11-263K19.4_ENST00000430312.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	248					bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCTCGTATATCATCCCGCAGC	0.602																																						ENST00000368378.3																			0				breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						c.(742-744)Gat>Aat		thrombospondin 3		C	ASN/ASP	0,4406		0,0,2203	91.0	85.0	87.0		742	5.9	1.0	1		87	1,8599	1.2+/-3.3	0,1,4299	no	missense	THBS3	NM_007112.3	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	248/957	155173028	1,13005	2203	4300	6503	SO:0001583	missense	7059				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity	g.chr1:155173028C>T	L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.742G>A	1.37:g.155173028C>T	ENSP00000357362:p.Asp248Asn					THBS3_ENST00000541990.1_5'UTR|THBS3_ENST00000428962.2_Intron|RP11-263K19.4_ENST00000422665.1_RNA|RP11-263K19.4_ENST00000430312.1_RNA|THBS3_ENST00000487250.1_5'UTR|THBS3_ENST00000457183.2_Missense_Mutation_p.D128N|RP11-263K19.4_ENST00000453136.1_RNA	p.D248N	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		6	762	-	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		248					B1AVR8|B4DQ20|Q8WV34	Missense_Mutation	SNP	ENST00000368378.3	37	c.742G>A	CCDS1099.1	.	.	.	.	.	.	.	.	.	.	C	35	5.435346	0.96150	0.0	1.16E-4	ENSG00000169231	ENST00000368378;ENST00000457183	T;T	0.37752	1.18;1.18	5.87	5.87	0.94306	Thrombospondin/cartilage oligomeric matrix protein, coiled-coil domain (1);	0.000000	0.85682	D	0.000000	T	0.43389	0.1245	L	0.54323	1.7	0.80722	D	1	P;D;P;D	0.58620	0.891;0.983;0.943;0.983	P;D;P;D	0.63703	0.588;0.917;0.817;0.917	T	0.03121	-1.1070	10	0.19147	T	0.46	-26.6924	18.0718	0.89410	0.0:1.0:0.0:0.0	.	128;248;248;248	B4DQ20;Q53FK6;Q2HIZ0;P49746	.;.;.;TSP3_HUMAN	N	248;128	ENSP00000357362:D248N;ENSP00000392207:D128N	ENSP00000357362:D248N	D	-	1	0	THBS3	153439652	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	6.815000	0.75242	2.941000	0.99782	0.655000	0.94253	GAT		0.602	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086856.1	NM_007112		21	21	0	0	0	1	0	21	21				
FSTL4	23105	broad.mit.edu	37	5	132537700	132537700	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr5:132537700T>C	ENST00000265342.7	-	15	2000	c.1751A>G	c.(1750-1752)cAc>cGc	p.H584R	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	584						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCGGATGAGGTGCTGGCTCTG	0.557																																						ENST00000265342.7																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1750-1752)cAc>cGc		follistatin-like 4							181.0	169.0	173.0					5																	132537700		2203	4300	6503	SO:0001583	missense	23105					extracellular region	calcium ion binding	g.chr5:132537700T>C	AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.1751A>G	5.37:g.132537700T>C	ENSP00000265342:p.His584Arg					CTB-49A3.2_ENST00000509051.1_RNA	p.H584R	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		15	2000	-		all_cancers(142;0.244)	584					Q8TBU0|Q9UPU1	Missense_Mutation	SNP	ENST00000265342.7	37	c.1751A>G	CCDS34238.1	.	.	.	.	.	.	.	.	.	.	T	10.30	1.311541	0.23821	.	.	ENSG00000053108	ENST00000265342;ENST00000360575	T	0.27890	1.64	5.37	4.21	0.49690	WD40/YVTN repeat-like-containing domain (1);	0.097576	0.64402	N	0.000002	T	0.25195	0.0612	L	0.41632	1.29	0.48040	D	0.99957	B;B	0.15473	0.001;0.013	B;B	0.20955	0.003;0.032	T	0.03840	-1.0999	10	0.33141	T	0.24	-25.3831	10.6606	0.45700	0.0:0.0756:0.0:0.9244	.	584;233	Q6MZW2;B3KPF3	FSTL4_HUMAN;.	R	584;415	ENSP00000265342:H584R	ENSP00000265342:H584R	H	-	2	0	FSTL4	132565599	1.000000	0.71417	1.000000	0.80357	0.339000	0.28857	2.261000	0.43276	0.990000	0.38787	0.482000	0.46254	CAC		0.557	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370212.1	XM_048786		8	83	0	0	0	1	0	8	83				
ZNF619	285267	broad.mit.edu	37	3	40529533	40529533	+	Missense_Mutation	SNP	C	C	G			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr3:40529533C>G	ENST00000314686.5	+	6	1889	c.1484C>G	c.(1483-1485)tCt>tGt	p.S495C	ZNF619_ENST00000447116.2_Missense_Mutation_p.S551C|ZNF619_ENST00000522736.1_Missense_Mutation_p.S502C|ZNF619_ENST00000456778.1_Missense_Mutation_p.S467C|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000521353.1_Missense_Mutation_p.S551C|ZNF619_ENST00000432264.2_Missense_Mutation_p.S511C|ZNF619_ENST00000429348.2_Missense_Mutation_p.S511C			Q8N2I2	ZN619_HUMAN	zinc finger protein 619	495					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CATACCTGCTCTGCCCTAGCC	0.547																																						ENST00000447116.2																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1651-1653)tCt>tGt		zinc finger protein 619							145.0	102.0	117.0					3																	40529533		2203	4300	6503	SO:0001583	missense	285267				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr3:40529533C>G	AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873		"""Zinc fingers, C2H2-type"", ""-"""	26910	protein-coding gene	gene with protein product							Standard	NM_001145083		Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.1484C>G	3.37:g.40529533C>G	ENSP00000322529:p.Ser495Cys					ZNF619_ENST00000456778.1_Missense_Mutation_p.S467C|ZNF619_ENST00000314686.5_Missense_Mutation_p.S495C|ZNF619_ENST00000429348.2_Missense_Mutation_p.S511C|ZNF619_ENST00000432264.2_Missense_Mutation_p.S511C|ZNF619_ENST00000521353.1_Missense_Mutation_p.S551C|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000522736.1_Missense_Mutation_p.S502C	p.S551C	NM_001145082.2	NP_001138554.1	E9PCD9	E9PCD9_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	6	1959	+			551					B4E271|C9JRN5|D4PHA2|E9PCD9	Missense_Mutation	SNP	ENST00000314686.5	37	c.1652C>G		.	.	.	.	.	.	.	.	.	.	C	3.288	-0.145533	0.06627	.	.	ENSG00000177873	ENST00000314686;ENST00000447116;ENST00000429348;ENST00000456778;ENST00000442066;ENST00000522736;ENST00000521353;ENST00000432264	T;T;T;T;T;T;T	0.07021	3.23;3.29;3.44;3.25;3.25;3.29;3.44	1.97	-0.0424	0.13863	.	.	.	.	.	T	0.05135	0.0137	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B;B	0.06786	0.001;0.001;0.001;0.001;0.001;0.001	B;B;B;B;B;B	0.04013	0.001;0.001;0.001;0.001;0.001;0.001	T	0.38090	-0.9677	9	0.87932	D	0	.	7.5774	0.27944	0.0:0.4703:0.5297:0.0	.	467;511;551;453;502;495	B4E271;C9JRN5;E9PCD9;B7Z9B3;Q17RW3;Q8N2I2	.;.;.;.;.;ZN619_HUMAN	C	495;551;511;467;132;502;551;511	ENSP00000322529:S495C;ENSP00000411132:S551C;ENSP00000398024:S511C;ENSP00000397232:S467C;ENSP00000428004:S502C;ENSP00000430705:S551C;ENSP00000388710:S511C	ENSP00000322529:S495C	S	+	2	0	ZNF619	40504537	0.000000	0.05858	0.002000	0.10522	0.010000	0.07245	-0.850000	0.04317	-0.025000	0.13918	0.462000	0.41574	TCT		0.547	ZNF619-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000254180.2	NM_173656		12	22	0	0	0	1	0	12	22				
NR2F6	2063	broad.mit.edu	37	19	17343311	17343311	+	Silent	SNP	C	C	T			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr19:17343311C>T	ENST00000291442.3	-	4	1784	c.1065G>A	c.(1063-1065)ctG>ctA	p.L355L		NM_005234.3	NP_005225.2	P10588	NR2F6_HUMAN	nuclear receptor subfamily 2, group F, member 6	355	Important for dimerization. {ECO:0000250}.|Ligand-binding. {ECO:0000250}.				detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|entrainment of circadian clock by photoperiod (GO:0043153)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	5						CGGGGAGCCGCAGCAGCAGGC	0.677																																						ENST00000291442.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	5						c.(1063-1065)ctG>ctA		nuclear receptor subfamily 2, group F, member 6							19.0	20.0	20.0					19																	17343311		2198	4295	6493	SO:0001819	synonymous_variant	2063				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding	g.chr19:17343311C>T	X12794	CCDS12352.1	19p13.11	2013-09-20			ENSG00000160113	ENSG00000160113		"""Nuclear hormone receptors"""	7977	protein-coding gene	gene with protein product		132880		ERBAL2		2905047	Standard	NM_005234		Approved	EAR-2	uc002nfq.3	P10588	OTTHUMG00000182728	ENST00000291442.3:c.1065G>A	19.37:g.17343311C>T							p.L355L	NM_005234.3	NP_005225.2	P10588	NR2F6_HUMAN			4	1784	-			355			Important for dimerization (By similarity).|Ligand-binding (By similarity).		B2RC68|Q5XGA0|Q6P586|Q9BUE8	Silent	SNP	ENST00000291442.3	37	c.1065G>A	CCDS12352.1																																																																																				0.677	NR2F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463325.1			7	8	0	0	0	1	0	7	8				
DCC	1630	broad.mit.edu	37	18	50278598	50278598	+	Missense_Mutation	SNP	A	A	C			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr18:50278598A>C	ENST00000442544.2	+	2	882	c.266A>C	c.(265-267)aAg>aCg	p.K89T	DCC_ENST00000412726.1_5'UTR	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	89	Ig-like C2-type 1.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GATGAAAGGAAGCAGCAACTT	0.483																																						ENST00000442544.2																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(265-267)aAg>aCg		deleted in colorectal carcinoma							126.0	117.0	120.0					18																	50278598		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50278598A>C	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.266A>C	18.37:g.50278598A>C	ENSP00000389140:p.Lys89Thr					DCC_ENST00000412726.1_5'UTR	p.K89T	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	2	882	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	89			Ig-like C2-type 1.			Missense_Mutation	SNP	ENST00000442544.2	37	c.266A>C	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	A	9.749	1.166910	0.21621	.	.	ENSG00000187323	ENST00000442544;ENST00000304775	T	0.01505	4.82	5.52	5.52	0.82312	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.071802	0.56097	D	0.000032	T	0.01940	0.0061	N	0.04203	-0.255	0.80722	D	1	P	0.37500	0.597	P	0.49799	0.622	T	0.66666	-0.5866	10	0.54805	T	0.06	.	7.0024	0.24817	0.8353:0.0:0.1647:0.0	.	89	P43146	DCC_HUMAN	T	89;22	ENSP00000389140:K89T	ENSP00000304146:K22T	K	+	2	0	DCC	48532596	1.000000	0.71417	1.000000	0.80357	0.400000	0.30750	7.248000	0.78268	2.092000	0.63282	0.533000	0.62120	AAG		0.483	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		5	42	0	0	0	1	0	5	42				
KSR2	283455	broad.mit.edu	37	12	117977676	117977676	+	Missense_Mutation	SNP	G	G	C			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr12:117977676G>C	ENST00000339824.5	-	10	2262	c.1535C>G	c.(1534-1536)cCt>cGt	p.P512R	KSR2_ENST00000302438.5_Missense_Mutation_p.P209R|KSR2_ENST00000425217.1_Missense_Mutation_p.P483R|KSR2_ENST00000545002.1_5'UTR			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	512	Pro-rich.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGCTGGTAAGGGACAGGGAT	0.637																																						ENST00000425217.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1447-1449)cCt>cGt		kinase suppressor of ras 2							91.0	112.0	105.0					12																	117977676		2160	4261	6421	SO:0001583	missense	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:117977676G>C	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.1535C>G	12.37:g.117977676G>C	ENSP00000339952:p.Pro512Arg					KSR2_ENST00000339824.5_Missense_Mutation_p.P512R|KSR2_ENST00000302438.5_Missense_Mutation_p.P209R|KSR2_ENST00000545002.1_5'UTR	p.P483R	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN			10	1502	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		512					A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	ENST00000339824.5	37	c.1448C>G		.	.	.	.	.	.	.	.	.	.	G	24.0	4.478921	0.84747	.	.	ENSG00000171435	ENST00000425217;ENST00000339824;ENST00000302438;ENST00000542378	T;T;D	0.87179	-1.36;-1.37;-2.22	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	D	0.86117	0.5856	L	0.39898	1.24	0.80722	D	1	D	0.57257	0.979	P	0.48840	0.592	D	0.85183	0.1005	10	0.33141	T	0.24	.	18.2499	0.89998	0.0:0.0:1.0:0.0	.	512	Q6VAB6	KSR2_HUMAN	R	483;512;209;184	ENSP00000389715:P483R;ENSP00000339952:P512R;ENSP00000305466:P209R	ENSP00000305466:P209R	P	-	2	0	KSR2	116462059	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.564000	0.98151	2.509000	0.84616	0.655000	0.94253	CCT		0.637	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		22	20	0	0	0	1	0	22	20				
TRBV6-8	28599	broad.mit.edu	37	7	142124530	142124530	+	RNA	SNP	A	A	G			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr7:142124530A>G	ENST00000390376.2	-	0	35									T cell receptor beta variable 6-8																		CCCACAGGAGAGAAAAGGCCG	0.597																																						ENST00000390376.2																			0																				67.0	68.0	68.0					7																	142124530		1874	4096	5970			0							g.chr7:142124530A>G	L36092		7q34	2012-02-07			ENSG00000253534	ENSG00000253534		"""T cell receptors / TRB locus"""	12233	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV68, TCRBV13S7P, TCRBV6S8			OTTHUMG00000158916		7.37:g.142124530A>G														0	35	-									RNA	SNP	ENST00000390376.2	37																																																																																						0.597	TRBV6-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352531.2	NG_001333		4	134	0	0	0	1	0	4	134				
SEMA4G	57715	broad.mit.edu	37	10	102732996	102732996	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr10:102732996C>T	ENST00000370250.4	+	2	608	c.235C>T	c.(235-237)Ctc>Ttc	p.L79F	SEMA4G_ENST00000210633.3_Missense_Mutation_p.L79F|MIR608_ENST00000384820.1_RNA|SEMA4G_ENST00000519756.1_3'UTR|SEMA4G_ENST00000517724.1_Missense_Mutation_p.L79F	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	79	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		CCTGTTCTCTCTCAGTGCCAA	0.607																																						ENST00000210633.3																			0				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(235-237)Ctc>Ttc		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G							40.0	42.0	41.0					10																	102732996		2203	4300	6503	SO:0001583	missense	57715				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr10:102732996C>T	AB046839	CCDS7501.1, CCDS55724.1	10q24.31	2013-01-11			ENSG00000095539	ENSG00000095539		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10735	protein-coding gene	gene with protein product							Standard	NM_017893		Approved	FLJ20590, KIAA1619	uc001krw.2	Q9NTN9	OTTHUMG00000018922	ENST00000370250.4:c.235C>T	10.37:g.102732996C>T	ENSP00000359270:p.Leu79Phe					SEMA4G_ENST00000519756.1_3'UTR|SEMA4G_ENST00000517724.1_Missense_Mutation_p.L79F|SEMA4G_ENST00000370250.4_Missense_Mutation_p.L79F	p.L79F			Q9NTN9	SEM4G_HUMAN		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)	2	313	+		Colorectal(252;0.234)	79			Sema.		A1A5C6|A6NJY8|Q58EY1|Q9HCF3	Missense_Mutation	SNP	ENST00000370250.4	37	c.235C>T		.	.	.	.	.	.	.	.	.	.	C	20.8	4.051743	0.75960	.	.	ENSG00000095539	ENST00000519649;ENST00000518124;ENST00000457585;ENST00000370250;ENST00000517724;ENST00000210633	T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98	5.18	5.18	0.71444	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.64402	D	0.000001	T	0.35219	0.0924	M	0.75150	2.29	0.58432	D	0.999995	D;P;D	0.54772	0.965;0.739;0.968	P;P;P	0.52881	0.712;0.593;0.654	T	0.07947	-1.0746	10	0.42905	T	0.14	.	10.8591	0.46817	0.0:0.9124:0.0:0.0876	.	79;79;79	Q9NTN9;A1A5C6;Q9NTN9-2	SEM4G_HUMAN;.;.	F	79	ENSP00000428896:L79F;ENSP00000430103:L79F;ENSP00000359270:L79F;ENSP00000430175:L79F;ENSP00000210633:L79F	ENSP00000210633:L79F	L	+	1	0	SEMA4G	102722986	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	2.574000	0.46016	2.389000	0.81357	0.585000	0.79938	CTC		0.607	SEMA4G-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049920.2			6	15	0	0	0	1	0	6	15				
MSX2	4488	broad.mit.edu	37	5	174156222	174156222	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr5:174156222C>T	ENST00000239243.6	+	2	567	c.440C>T	c.(439-441)aCg>aTg	p.T147M	MSX2_ENST00000507785.1_3'UTR	NM_002449.4	NP_002440.2	P35548	MSX2_HUMAN	msh homeobox 2	147					activation of meiosis (GO:0090427)|anagen (GO:0042640)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway involved in heart development (GO:0061312)|bone trabecula formation (GO:0060346)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to estradiol stimulus (GO:0071392)|cellular response to growth factor stimulus (GO:0071363)|chondrocyte development (GO:0002063)|cranial suture morphogenesis (GO:0060363)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic nail plate morphogenesis (GO:0035880)|enamel mineralization (GO:0070166)|endochondral bone growth (GO:0003416)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|frontal suture morphogenesis (GO:0060364)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of catagen (GO:0051795)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|positive regulation of osteoblast differentiation (GO:0045669)|signal transduction involved in regulation of gene expression (GO:0023019)|wound healing, spreading of epidermal cells (GO:0035313)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10	Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			AAGCCGCGCACGCCCTTTACC	0.542																																						ENST00000239243.6																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						c.(439-441)aCg>aTg		msh homeobox 2							61.0	54.0	56.0					5																	174156222		2203	4300	6503	SO:0001583	missense	4488				cranial suture morphogenesis|negative regulation of transcription, DNA-dependent|osteoblast differentiation	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr5:174156222C>T	D26145	CCDS4392.1	5q35.2	2011-06-20	2006-11-21		ENSG00000120149	ENSG00000120149		"""Homeoboxes / ANTP class : NKL subclass"""	7392	protein-coding gene	gene with protein product	"""craniosynostosis, type 2"""	123101	"""msh (Drosophila) homeo box homolog 2"", ""parietal foramina 1"", ""msh homeobox homolog 2 (Drosophila)"""	PFM1		8668339, 8786091	Standard	XM_006714868		Approved	CRS2, FPP, HOX8, MSH, PFM	uc003mcy.3	P35548	OTTHUMG00000130556	ENST00000239243.6:c.440C>T	5.37:g.174156222C>T	ENSP00000239243:p.Thr147Met					MSX2_ENST00000507785.1_3'UTR	p.T147M	NM_002449.4	NP_002440.2	P35548	MSX2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		2	567	+	Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	147					D3DQN1|Q53XM4|Q9UD60	Missense_Mutation	SNP	ENST00000239243.6	37	c.440C>T	CCDS4392.1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.831347	0.71258	.	.	ENSG00000120149	ENST00000239243	D	0.97352	-4.35	5.72	5.72	0.89469	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98947	0.9642	M	0.94021	3.485	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99402	1.0928	10	0.87932	D	0	-18.3114	19.8548	0.96752	0.0:1.0:0.0:0.0	.	147	P35548	MSX2_HUMAN	M	147	ENSP00000239243:T147M	ENSP00000239243:T147M	T	+	2	0	MSX2	174088828	1.000000	0.71417	0.723000	0.30687	0.208000	0.24298	7.770000	0.85390	2.702000	0.92279	0.591000	0.81541	ACG		0.542	MSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252981.3			8	12	0	0	0	1	0	8	12				
SLC30A10	55532	broad.mit.edu	37	1	220091654	220091654	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr1:220091654C>T	ENST00000366926.3	-	3	1062	c.901G>A	c.(901-903)Gag>Aag	p.E301K	SLC30A10_ENST00000484079.1_5'UTR|SLC30A10_ENST00000536446.1_Missense_Mutation_p.E56K	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	301					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		GCAGCGGTCTCCTTGATAAGC	0.468																																					Colon(76;360 1614 43677 51136)	ENST00000366926.3																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13						c.(901-903)Gag>Aag		solute carrier family 30, member 10							149.0	150.0	150.0					1																	220091654		2203	4300	6503	SO:0001583	missense	55532				zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity	g.chr1:220091654C>T	AY212919	CCDS31026.1	1q41	2013-05-22			ENSG00000196660	ENSG00000196660		"""Solute carriers"""	25355	protein-coding gene	gene with protein product	"""zinc transporter 8"""	611146				15154973	Standard	NR_046437		Approved	DKFZp547M236, ZnT-10, ZRC1, ZNT8	uc001hlw.3	Q6XR72	OTTHUMG00000037434	ENST00000366926.3:c.901G>A	1.37:g.220091654C>T	ENSP00000355893:p.Glu301Lys					SLC30A10_ENST00000484079.1_5'UTR|SLC30A10_ENST00000536446.1_Missense_Mutation_p.E56K	p.E301K	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN		GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)	3	1062	-			301					Q49AL9|Q9NPW0	Missense_Mutation	SNP	ENST00000366926.3	37	c.901G>A	CCDS31026.1	.	.	.	.	.	.	.	.	.	.	C	36	5.818102	0.96982	.	.	ENSG00000196660	ENST00000366926;ENST00000536446	T;T	0.65732	-0.17;-0.17	6.01	6.01	0.97437	.	0.131603	0.53938	D	0.000050	T	0.76176	0.3951	L	0.51422	1.61	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.71715	-0.4509	9	.	.	.	-44.3032	20.5073	0.99209	0.0:1.0:0.0:0.0	.	301	Q6XR72	ZNT10_HUMAN	K	301;56	ENSP00000355893:E301K;ENSP00000439489:E56K	.	E	-	1	0	SLC30A10	218158277	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.585000	0.82584	2.855000	0.98099	0.585000	0.79938	GAG		0.468	SLC30A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357709.1	NM_018713		4	75	0	0	0	1	0	4	75				
EPB41L4B	54566	broad.mit.edu	37	9	111976095	111976095	+	Missense_Mutation	SNP	A	A	G			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr9:111976095A>G	ENST00000374566.3	-	17	2154	c.1637T>C	c.(1636-1638)cTg>cCg	p.L546P		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	546					actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCCTGGACTCAGTTCTACAAA	0.527																																						ENST00000374566.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1636-1638)cTg>cCg		erythrocyte membrane protein band 4.1 like 4B							55.0	54.0	54.0					9																	111976095		1894	4122	6016	SO:0001583	missense	54566					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton	g.chr9:111976095A>G	AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.1637T>C	9.37:g.111976095A>G	ENSP00000363694:p.Leu546Pro						p.L546P	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN			17	2154	-			546					Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Missense_Mutation	SNP	ENST00000374566.3	37	c.1637T>C	CCDS43859.1	.	.	.	.	.	.	.	.	.	.	A	15.63	2.890989	0.52014	.	.	ENSG00000095203	ENST00000262536;ENST00000374566	D	0.88509	-2.39	5.47	4.31	0.51392	.	0.317346	0.17675	N	0.165824	T	0.82240	0.4994	L	0.27053	0.805	0.80722	D	1	D	0.56521	0.976	P	0.44597	0.454	T	0.78094	-0.2338	10	0.34782	T	0.22	.	9.5814	0.39490	0.8234:0.1766:0.0:0.0	.	546	Q9H329	E41LB_HUMAN	P	231;546	ENSP00000363694:L546P	ENSP00000262536:L231P	L	-	2	0	EPB41L4B	111015916	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	5.687000	0.68219	0.899000	0.36444	-0.501000	0.04562	CTG		0.527	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	NM_018424		11	31	0	0	0	1	0	11	31				
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1				archaelysin family metallopeptidase 2 pseudogene 1																		AAAATTCCACAAGTCTCTTGG	0.373																																						ENST00000430983.1																			0																																																			0							g.chr17:62968690A>G	AK056627		17q24.1	2012-10-16	2010-04-08		ENSG00000214174	ENSG00000214174			26491	pseudogene	pseudogene							Standard	NR_026903		Approved	FLJ32065	uc002jfb.3		OTTHUMG00000132075		17.37:g.62968690A>G								NR_026903.1						0	1554	-									RNA	SNP	ENST00000430983.1	37																																																																																						0.373	AMZ2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000255102.1	NM_153032		5	76	0	0	0	1	0	5	76				
FAT3	120114	broad.mit.edu	37	11	92600067	92600067	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr11:92600067G>A	ENST00000298047.6	+	21	11836	c.11819G>A	c.(11818-11820)cGg>cAg	p.R3940Q	FAT3_ENST00000533797.1_Missense_Mutation_p.R275Q|FAT3_ENST00000409404.2_Missense_Mutation_p.R3940Q|FAT3_ENST00000525166.1_Missense_Mutation_p.R3790Q			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3940	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TACGTGGAGCGGCGCCGGGCG	0.622										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(11818-11820)cGg>cAg		FAT atypical cadherin 3							31.0	35.0	34.0					11																	92600067		1941	4120	6061	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92600067G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.11819G>A	11.37:g.92600067G>A	ENSP00000298047:p.Arg3940Gln	TCGA Ovarian(4;0.039)				FAT3_ENST00000525166.1_Missense_Mutation_p.R3790Q|FAT3_ENST00000409404.2_Missense_Mutation_p.R3940Q|FAT3_ENST00000533797.1_Missense_Mutation_p.R275Q	p.R3940Q			Q8TDW7	FAT3_HUMAN			21	11836	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3940			Laminin G-like.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.11819G>A		.	.	.	.	.	.	.	.	.	.	G	29.4	5.001270	0.93227	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	5.74	5.74	0.90152	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	D	0.82365	0.5021	L	0.31752	0.955	0.80722	D	1	D;B	0.89917	1.0;0.175	D;B	0.70227	0.968;0.053	T	0.79885	-0.1614	9	0.32370	T	0.25	.	19.9226	0.97093	0.0:0.0:1.0:0.0	.	3940;3940	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	Q	3940;3940;3790;275	ENSP00000298047:R3940Q;ENSP00000387040:R3940Q;ENSP00000432586:R3790Q;ENSP00000436399:R275Q	ENSP00000298047:R3940Q	R	+	2	0	FAT3	92239715	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.190000	0.77755	2.720000	0.93068	0.561000	0.74099	CGG		0.622	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		3	23	0	0	0	1	0	3	23				
SEMA3F	6405	broad.mit.edu	37	3	50214257	50214257	+	Silent	SNP	G	G	A	rs201821675	byFrequency	TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr3:50214257G>A	ENST00000002829.3	+	7	1090	c.606G>A	c.(604-606)ccG>ccA	p.P202P	SEMA3F_ENST00000413852.1_Silent_p.P103P|SEMA3F_ENST00000434342.1_Silent_p.P171P	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	202	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|negative regulation of axon extension involved in axon guidance (GO:0048843)|nerve development (GO:0021675)|neural crest cell migration (GO:0001755)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	extracellular space (GO:0005615)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|receptor activity (GO:0004872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		GCAAGTGTCCGTACGATCCCA	0.617													G|||	2	0.000399361	0.0008	0.0	5008	,	,		17234	0.0		0.0	False		,,,				2504	0.001					ENST00000002829.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						c.(604-606)ccG>ccA		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F							172.0	142.0	152.0					3																	50214257		2203	4300	6503	SO:0001819	synonymous_variant	6405				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity	g.chr3:50214257G>A	U33920	CCDS2811.1	3p21.3	2013-01-11			ENSG00000001617	ENSG00000001617		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10728	protein-coding gene	gene with protein product	"""sema IV"""	601124				8786119, 8649831	Standard	NM_004186		Approved	SEMAK, Sema4	uc003cyj.3	Q13275	OTTHUMG00000156806	ENST00000002829.3:c.606G>A	3.37:g.50214257G>A						SEMA3F_ENST00000434342.1_Silent_p.P171P|SEMA3F_ENST00000413852.1_Silent_p.P103P	p.P202P	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)	7	1090	+			202			Sema.		C9JQ85|Q13274|Q13372|Q15704|Q6GTR4	Silent	SNP	ENST00000002829.3	37	c.606G>A	CCDS2811.1																																																																																				0.617	SEMA3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345929.1	NM_004186		3	37	0	0	0	1	0	3	37				
FANCB	2187	broad.mit.edu	37	X	14861809	14861809	+	Missense_Mutation	SNP	C	C	A			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chrX:14861809C>A	ENST00000324138.3	-	9	2613	c.2460G>T	c.(2458-2460)aaG>aaT	p.K820N	FANCB_ENST00000398334.1_Missense_Mutation_p.K820N	NM_152633.2	NP_689846.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	820					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					ACATTTTCTTCTTTTCTCTCT	0.418								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000398334.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						c.(2458-2460)aaG>aaT	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group B							153.0	133.0	140.0					X																	14861809		2203	4300	6503	SO:0001583	missense	2187	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm		g.chrX:14861809C>A	AK091383	CCDS14161.1	Xp22.2	2014-09-17			ENSG00000181544	ENSG00000181544		"""Fanconi anemia, complementation groups"""	3583	protein-coding gene	gene with protein product		300515				9382107, 15502827	Standard	NM_152633		Approved	FAB, FLJ34064, FAAP95	uc004cwh.1	Q8NB91	OTTHUMG00000021168	ENST00000324138.3:c.2460G>T	X.37:g.14861809C>A	ENSP00000326819:p.Lys820Asn					FANCB_ENST00000324138.3_Missense_Mutation_p.K820N	p.K820N	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN			10	2727	-	Hepatocellular(33;0.183)		820					B2RMZ4|Q7Z2U2|Q86XG1	Missense_Mutation	SNP	ENST00000324138.3	37	c.2460G>T	CCDS14161.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.167139	0.38217	.	.	ENSG00000181544	ENST00000324138;ENST00000398334	.	.	.	5.4	3.59	0.41128	.	0.302095	0.37095	N	0.002255	T	0.57475	0.2056	M	0.61703	1.905	0.22591	N	0.998954	D	0.76494	0.999	D	0.77557	0.99	T	0.48364	-0.9042	9	0.72032	D	0.01	-9.2234	9.4704	0.38839	0.0:0.7656:0.0:0.2344	.	820	Q8NB91	FANCB_HUMAN	N	820	.	ENSP00000326819:K820N	K	-	3	2	FANCB	14771730	0.013000	0.17824	0.656000	0.29637	0.184000	0.23303	0.240000	0.18042	1.019000	0.39547	0.594000	0.82650	AAG		0.418	FANCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055835.1	NM_152633		10	54	1	0	0.000673444	1	0.00071834	10	54				
GRIA2	2891	broad.mit.edu	37	4	158255214	158255214	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr4:158255214C>T	ENST00000264426.9	+	9	1487	c.1208C>T	c.(1207-1209)cCt>cTt	p.P403L	GRIA2_ENST00000507898.1_Missense_Mutation_p.P356L|GRIA2_ENST00000393815.2_Missense_Mutation_p.P356L|GRIA2_ENST00000296526.7_Missense_Mutation_p.P403L|GRIA2_ENST00000449365.1_Missense_Mutation_p.P356L	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	403					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	ACTGAGCTCCCTTCTGGAAAT	0.393																																						ENST00000296526.7																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(1207-1209)cCt>cTt		glutamate receptor, ionotropic, AMPA 2	L-Glutamic Acid(DB00142)						193.0	178.0	183.0					4																	158255214		2203	4300	6503	SO:0001583	missense	2891				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr4:158255214C>T		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.1208C>T	4.37:g.158255214C>T	ENSP00000264426:p.Pro403Leu					GRIA2_ENST00000507898.1_Missense_Mutation_p.P356L|GRIA2_ENST00000449365.1_Missense_Mutation_p.P356L|GRIA2_ENST00000264426.9_Missense_Mutation_p.P403L|GRIA2_ENST00000393815.2_Missense_Mutation_p.P356L	p.P403L	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	9	1533	+	all_hematologic(180;0.24)	Renal(120;0.0458)	403					A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	c.1208C>T	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	C	7.286	0.610186	0.14066	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365	T;T;T;T;T	0.13778	2.56;2.56;2.61;2.61;2.56	5.5	5.5	0.81552	.	0.064489	0.64402	D	0.000006	T	0.05777	0.0151	N	0.02539	-0.55	0.48511	D	0.999666	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.0;0.003;0.0	T	0.36625	-0.9740	10	0.37606	T	0.19	.	10.2675	0.43464	0.0:0.8526:0.0:0.1474	.	403;403;356	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	L	356;356;403;403;356	ENSP00000426845:P356L;ENSP00000377403:P356L;ENSP00000296526:P403L;ENSP00000264426:P403L;ENSP00000389837:P356L	ENSP00000264426:P403L	P	+	2	0	GRIA2	158474664	0.980000	0.34600	0.984000	0.44739	0.961000	0.63080	2.899000	0.48679	2.736000	0.93811	0.591000	0.81541	CCT		0.393	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			9	106	0	0	0	1	0	9	106				
VPS54	51542	broad.mit.edu	37	2	64211107	64211107	+	Silent	SNP	T	T	G			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr2:64211107T>G	ENST00000272322.4	-	2	181	c.27A>C	c.(25-27)ccA>ccC	p.P9P	VPS54_ENST00000409558.4_Silent_p.P9P			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	9					growth (GO:0040007)|homeostasis of number of cells within a tissue (GO:0048873)|musculoskeletal movement (GO:0050881)|neurofilament cytoskeleton organization (GO:0060052)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)				endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						CTTGAGGCACTGGTGAAGAAC	0.413																																						ENST00000272322.4																			0				endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						c.(25-27)ccA>ccC		vacuolar protein sorting 54 homolog (S. cerevisiae)							131.0	129.0	130.0					2																	64211107		2203	4300	6503	SO:0001819	synonymous_variant	51542				protein transport|retrograde transport, endosome to Golgi			g.chr2:64211107T>G	AF102177	CCDS33208.1, CCDS46302.1	2p15-p14	2014-06-13	2006-12-19		ENSG00000143952	ENSG00000143952			18652	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 164"""	614633	"""vacuolar protein sorting 54 (yeast)"""			12039048	Standard	NM_016516		Approved	HCC8, PPP1R164	uc002scq.3	Q9P1Q0	OTTHUMG00000152627	ENST00000272322.4:c.27A>C	2.37:g.64211107T>G						VPS54_ENST00000409558.3_Silent_p.P9P	p.P9P	NM_016516.2	NP_057600.2	Q9P1Q0	VPS54_HUMAN			2	181	-			9					Q5VIR5|Q86YF7|Q8N6G3|Q9NPV0|Q9NT07|Q9NUJ0	Silent	SNP	ENST00000272322.4	37	c.27A>C	CCDS33208.1																																																																																				0.413	VPS54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327062.2	NM_016516		35	77	0	0	0	1	0	35	77				
BAGE2	85319	broad.mit.edu	37	21	11058353	11058353	+	RNA	SNP	T	T	C	rs79433933		TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr21:11058353T>C	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAAATCTCTTTATAAAACCTT	0.343																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							20.0	18.0	19.0					21																	11058353		692	1589	2281			85319							g.chr21:11058353T>C	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058353T>C												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.343	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		4	86	0	0	0	1	0	4	86				
MVK	4598	broad.mit.edu	37	12	110019342	110019342	+	Missense_Mutation	SNP	G	G	C	rs104895310		TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr12:110019342G>C	ENST00000228510.3	+	5	590	c.514G>C	c.(514-516)Gat>Cat	p.D172H	MVK_ENST00000392727.3_Intron|MVK_ENST00000539696.1_Intron|MVK_ENST00000539575.1_Intron|MVK_ENST00000541384.1_Intron|MVK_ENST00000535044.1_Intron	NM_000431.2|NM_001114185.1	NP_000422.1|NP_001107657.1	Q03426	KIME_HUMAN	mevalonate kinase	172					cholesterol biosynthetic process (GO:0006695)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|isoprenoid biosynthetic process (GO:0008299)|negative regulation of inflammatory response (GO:0050728)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|mevalonate kinase activity (GO:0004496)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						GAAGGACGGGGATTGCGTCAA	0.652																																						ENST00000228510.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						c.(514-516)Gat>Cat		mevalonate kinase							87.0	84.0	85.0					12																	110019342		2203	4300	6503	SO:0001583	missense	4598				cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|peroxisome	ATP binding|identical protein binding|mevalonate kinase activity	g.chr12:110019342G>C	M88468	CCDS9132.1, CCDS73522.1	12q24	2014-09-17	2008-01-30		ENSG00000110921	ENSG00000110921	2.7.1.36		7530	protein-coding gene	gene with protein product	"""LH receptor mRNA-binding protein"", ""mevalonic aciduria"""	251170	"""mevalonate kinase (mevalonic aciduria)"""			1377680	Standard	XM_005253883		Approved	LRBP, MK	uc001toy.4	Q03426	OTTHUMG00000169256	ENST00000228510.3:c.514G>C	12.37:g.110019342G>C	ENSP00000228510:p.Asp172His					MVK_ENST00000392727.3_Intron|MVK_ENST00000539696.1_Intron|MVK_ENST00000535044.1_Intron|MVK_ENST00000541384.1_Intron|MVK_ENST00000539575.1_Intron	p.D172H	NM_000431.2|NM_001114185.1	NP_000422.1|NP_001107657.1	Q03426	KIME_HUMAN			5	590	+			172						Missense_Mutation	SNP	ENST00000228510.3	37	c.514G>C	CCDS9132.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.695922	0.30052	.	.	ENSG00000110921	ENST00000546277;ENST00000228510	D;D	0.91945	-2.94;-2.94	4.84	3.93	0.45458	Ribosomal protein S5 domain 2-type fold (1);GHMP kinase (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);	1.036630	0.07545	N	0.914508	D	0.89245	0.6660	L	0.42245	1.32	0.25629	N	0.986322	B	0.29627	0.252	B	0.29598	0.104	T	0.79203	-0.1900	10	0.44086	T	0.13	-2.704	11.3064	0.49338	0.0:0.1847:0.8153:0.0	.	172	Q03426	KIME_HUMAN	H	172	ENSP00000438153:D172H;ENSP00000228510:D172H	ENSP00000228510:D172H	D	+	1	0	MVK	108503725	0.037000	0.19845	0.001000	0.08648	0.003000	0.03518	1.313000	0.33585	1.135000	0.42183	0.650000	0.86243	GAT		0.652	MVK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403143.1	NM_000431		7	15	0	0	0	1	0	7	15				
CARS	833	broad.mit.edu	37	11	3039171	3039171	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr11:3039171T>C	ENST00000397111.5	-	14	1639	c.1394A>G	c.(1393-1395)aAt>aGt	p.N465S	CARS_ENST00000278224.9_Missense_Mutation_p.N465S|CARS_ENST00000380525.4_Missense_Mutation_p.N548S|CARS_ENST00000401769.3_Missense_Mutation_p.N478S|CARS_ENST00000397114.3_Missense_Mutation_p.N455S			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	465					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	ATCTTTCACATTTAAGAAAAA	0.378			T	ALK	ALCL																																Ovarian(61;932 1157 5961 20446 52152)	ENST00000397114.3				Dom	yes		11	11p15.5	833	T	cysteinyl-tRNA synthetase			L	ALK		ALCL	CARS/ALK(5)	0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31						c.(1363-1365)aAt>aGt		cysteinyl-tRNA synthetase	L-Cysteine(DB00151)						115.0	108.0	110.0					11																	3039171		2202	4298	6500	SO:0001583	missense	833				cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding	g.chr11:3039171T>C	AF288207	CCDS7742.1, CCDS41600.1, CCDS41602.1	11p15.5	2011-07-01			ENSG00000110619	ENSG00000110619	6.1.1.16	"""Aminoacyl tRNA synthetases / Class I"""	1493	protein-coding gene	gene with protein product	"""cysteine tRNA ligase 1, cytoplasmic"""	123859				8468064	Standard	NM_139273		Approved	CARS1	uc001lxf.3	P49589	OTTHUMG00000010927	ENST00000397111.5:c.1394A>G	11.37:g.3039171T>C	ENSP00000380300:p.Asn465Ser					CARS_ENST00000380525.4_Missense_Mutation_p.N548S|CARS_ENST00000278224.9_Missense_Mutation_p.N465S|CARS_ENST00000401769.3_Missense_Mutation_p.N478S|CARS_ENST00000397111.5_Missense_Mutation_p.N465S	p.N455S			P49589	SYCC_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	15	1740	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	465					Q53XI8|Q5HYE4|Q9HD24|Q9HD25	Missense_Mutation	SNP	ENST00000397111.5	37	c.1364A>G	CCDS7742.1	.	.	.	.	.	.	.	.	.	.	T	16.00	2.999369	0.54147	.	.	ENSG00000110619	ENST00000380525;ENST00000397111;ENST00000278224;ENST00000397114;ENST00000401769	T;T;T;T;T	0.46819	0.86;0.87;0.86;0.87;0.86	4.24	3.09	0.35607	.	0.050114	0.85682	D	0.000000	T	0.54759	0.1878	M	0.75085	2.285	0.58432	D	0.999999	B;B;B;P;B;P	0.44690	0.146;0.065;0.415;0.841;0.035;0.754	B;B;B;P;B;B	0.49561	0.045;0.067;0.314;0.615;0.091;0.41	T	0.52793	-0.8528	10	0.34782	T	0.22	-27.5365	11.0222	0.47724	0.0:0.0:0.1558:0.8442	.	478;548;465;465;548;455	B4DKY1;B4DPV7;P49589;P49589-2;Q5HYE4;A8MVQ3	.;.;SYCC_HUMAN;.;.;.	S	548;465;465;455;478	ENSP00000369897:N548S;ENSP00000380300:N465S;ENSP00000278224:N465S;ENSP00000380303:N455S;ENSP00000384069:N478S	ENSP00000278224:N465S	N	-	2	0	CARS	2995747	1.000000	0.71417	0.433000	0.26760	0.765000	0.43378	5.513000	0.67037	0.658000	0.30925	0.459000	0.35465	AAT		0.378	CARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030117.4	NM_001751		26	32	0	0	0	1	0	26	32				
CDH12	1010	broad.mit.edu	37	5	21842308	21842308	+	Missense_Mutation	SNP	A	A	T			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr5:21842308A>T	ENST00000382254.1	-	8	1862	c.776T>A	c.(775-777)cTc>cAc	p.L259H	CDH12_ENST00000522262.1_Missense_Mutation_p.L219H|CDH12_ENST00000504376.2_Missense_Mutation_p.L259H|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	259	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GACATCGGTGAGAGTGATGTT	0.403										HNSCC(59;0.17)																												ENST00000382254.1																			0				NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(775-777)cTc>cAc		cadherin 12, type 2 (N-cadherin 2)							384.0	289.0	322.0					5																	21842308		2203	4300	6503	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21842308A>T	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.776T>A	5.37:g.21842308A>T	ENSP00000371689:p.Leu259His	HNSCC(59;0.17)				CDH12_ENST00000504376.2_Missense_Mutation_p.L259H|CDH12_ENST00000522262.1_Missense_Mutation_p.L219H|CDH12_ENST00000521384.1_5'UTR	p.L259H	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN			8	1862	-			259			Cadherin 2.		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.776T>A	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.314636	0.81358	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.63096	0.46;0.46;-0.02	5.73	4.55	0.56014	Cadherin (5);Cadherin conserved site (1);Cadherin-like (1);	0.053759	0.85682	D	0.000000	T	0.81356	0.4805	M	0.89478	3.035	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	0.993;1.0	D	0.84175	0.0436	10	0.87932	D	0	.	12.9127	0.58189	0.8641:0.1359:0.0:0.0	.	219;259	B7Z2U6;P55289	.;CAD12_HUMAN	H	259;259;219	ENSP00000423577:L259H;ENSP00000371689:L259H;ENSP00000428786:L219H	ENSP00000371689:L259H	L	-	2	0	CDH12	21878065	1.000000	0.71417	0.997000	0.53966	0.972000	0.66771	9.152000	0.94680	0.961000	0.38030	0.533000	0.62120	CTC		0.403	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		6	71	0	0	0	1	0	6	71				
HYDIN	54768	broad.mit.edu	37	16	70866774	70866774	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr16:70866774C>T	ENST00000393567.2	-	80	14026	c.13876G>A	c.(13876-13878)Gtg>Atg	p.V4626M		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4626					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGTGGTCCCACGCAGACTCCA	0.572																																						ENST00000393567.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(13876-13878)Gtg>Atg		HYDIN, axonemal central pair apparatus protein							29.0	41.0	37.0					16																	70866774		2027	4266	6293	SO:0001583	missense	54768							g.chr16:70866774C>T	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.13876G>A	16.37:g.70866774C>T	ENSP00000377197:p.Val4626Met						p.V4626M	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			80	14026	-		Ovarian(137;0.0654)	4626					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.13876G>A	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.646925	0.29246	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01240	5.12	4.62	4.62	0.57501	.	0.247017	0.19924	U	0.103015	T	0.02727	0.0082	L	0.55103	1.725	0.80722	D	1	B	0.28636	0.218	B	0.35813	0.211	T	0.52946	-0.8507	10	0.48119	T	0.1	.	12.0234	0.53356	0.0:0.9128:0.0:0.0872	.	4625	F8WD23	.	M	4626;4625	ENSP00000377197:V4626M	ENSP00000313052:V4625M	V	-	1	0	HYDIN	69424275	0.417000	0.25432	0.995000	0.50966	0.797000	0.45037	0.947000	0.29082	2.113000	0.64589	0.511000	0.50034	GTG		0.572	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			9	24	0	0	0	1	0	9	24				
KIAA0391	9692	broad.mit.edu	37	14	35592592	35592592	+	Silent	SNP	T	T	C			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr14:35592592T>C	ENST00000557565.1	+	2	522	c.141T>C	c.(139-141)tcT>tcC	p.S47S	KIAA0391_ENST00000604948.1_Intron|PPP2R3C_ENST00000555644.1_5'Flank|KIAA0391_ENST00000605870.1_Intron|KIAA0391_ENST00000321130.10_Silent_p.S47S|KIAA0391_ENST00000603544.1_Silent_p.S47S|KIAA0391_ENST00000250377.7_5'UTR|KIAA0391_ENST00000603588.1_Intron|KIAA0391_ENST00000534898.4_Silent_p.S47S|PPP2R3C_ENST00000261475.5_5'Flank	NM_001282234.1	NP_001269163.1	O15091	MRRP3_HUMAN	KIAA0391	47					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		GGTTGTTTTCTCTTAAAACAA	0.473																																						ENST00000557565.1																			0				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14						c.(139-141)tcT>tcC		KIAA0391							63.0	58.0	60.0					14																	35592592		2203	4300	6503	SO:0001819	synonymous_variant	9692				tRNA processing	mitochondrion		g.chr14:35592592T>C	AB002389	CCDS32063.1, CCDS58312.1, CCDS58313.1, CCDS58314.1	14q13.2	2013-06-18			ENSG00000100890	ENSG00000100890			19958	protein-coding gene	gene with protein product	"""mitochondrial RNase P subunit 3"", ""proteinaceous RNase P"""	609947				9205841, 18984158	Standard	NM_001256678		Approved	MRPP3, PRORP	uc001wsy.2	O15091		ENST00000557565.1:c.141T>C	14.37:g.35592592T>C						KIAA0391_ENST00000605870.1_Intron|KIAA0391_ENST00000604948.1_Intron|KIAA0391_ENST00000603544.1_Silent_p.S47S|KIAA0391_ENST00000603588.1_Intron|KIAA0391_ENST00000534898.4_Silent_p.S47S|KIAA0391_ENST00000321130.10_Silent_p.S47S|KIAA0391_ENST00000250377.7_5'UTR	p.S47S			O15091	MRRP3_HUMAN	Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)	2	522	+	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		47					B4DXD9|B4E0S8|B4E211|C4AM93|D3DS99|D3DSA1|Q86SZ4|Q86YB5|Q8N5L5	Silent	SNP	ENST00000557565.1	37	c.141T>C	CCDS32063.1																																																																																				0.473	KIAA0391-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000411280.1	NM_014672		4	40	0	0	0	1	0	4	40				
LCMT2	9836	broad.mit.edu	37	15	43621659	43621659	+	Silent	SNP	G	G	C			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr15:43621659G>C	ENST00000305641.5	-	1	1144	c.1029C>G	c.(1027-1029)gcC>gcG	p.A343A	ADAL_ENST00000428046.3_5'Flank|LCMT2_ENST00000544735.1_5'UTR|ADAL_ENST00000422466.2_5'Flank|LCMT2_ENST00000567039.1_3'UTR|ADAL_ENST00000389651.4_5'Flank	NM_014793.4	NP_055608.2	O60294	TYW4_HUMAN	leucine carboxyl methyltransferase 2	343					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	TGACTACGCTGGCAGGGAATA	0.552																																						ENST00000305641.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20						c.(1027-1029)gcC>gcG		leucine carboxyl methyltransferase 2	L-Leucine(DB00149)						45.0	47.0	47.0					15																	43621659		2201	4297	6498	SO:0001819	synonymous_variant	9836				tRNA processing		methyltransferase activity|protein binding	g.chr15:43621659G>C	AF265443	CCDS10094.1	15q15.3	2007-01-26			ENSG00000168806	ENSG00000168806			17558	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 4"""	611246				9628581, 17150819	Standard	NM_014793		Approved	KIAA0547, MGC9534, TYW4, PPM2	uc001zrg.3	O60294	OTTHUMG00000130705	ENST00000305641.5:c.1029C>G	15.37:g.43621659G>C						LCMT2_ENST00000567039.1_3'UTR|LCMT2_ENST00000544735.1_5'UTR	p.A343A	NM_014793.4	NP_055608.2	O60294	LCMT2_HUMAN		GBM - Glioblastoma multiforme(94;8.1e-07)	1	1144	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	343					Q4JFT6|Q96B55|Q9NR10	Silent	SNP	ENST00000305641.5	37	c.1029C>G	CCDS10094.1																																																																																				0.552	LCMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253205.1	NM_014793		9	21	0	0	0	1	0	9	21				
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T	ANKRD36C_ENST00000420871.2_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000295246.5_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	634							ion channel inhibitor activity (GO:0008200)	p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.I634T(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1900-1902)aTa>aCa		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593000A>G	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1901T>C	2.37:g.96593000A>G	ENSP00000403302:p.Ile634Thr						p.I634T							28	1985	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1901T>C		.	.	.	.	.	.	.	.	.	.	a	7.838	0.721224	0.15372	.	.	ENSG00000174501	ENST00000456556	T	0.77229	-1.08	0.578	-1.16	0.09678	.	.	.	.	.	T	0.70718	0.3256	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.56153	-0.8026	6	0.08381	T	0.77	.	.	.	.	.	.	.	.	T	634	ENSP00000403302:I634T	ENSP00000403302:I634T	I	-	2	0	AC073995.2	95956727	0.016000	0.18221	0.004000	0.12327	0.101000	0.19017	0.588000	0.23924	-0.580000	0.05944	0.163000	0.16589	ATA		0.338	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		3	47	0	0	0	1	0	3	47				
THBS3	7059	broad.mit.edu	37	1	155169845	155169845	+	Missense_Mutation	SNP	C	C	G			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr1:155169845C>G	ENST00000368378.3	-	15	1788	c.1768G>C	c.(1768-1770)Gat>Cat	p.D590H	RP11-263K19.4_ENST00000436772.1_RNA|RP11-263K19.4_ENST00000454348.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.D470H|RP11-263K19.4_ENST00000422665.1_RNA|RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000541990.1_Missense_Mutation_p.D119H|THBS3_ENST00000541576.1_5'UTR|RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000486260.1_5'Flank|RP11-263K19.4_ENST00000430312.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	590					bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCGTCCTCATCCCTGTCTGTC	0.532																																						ENST00000368378.3																			0				breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						c.(1768-1770)Gat>Cat		thrombospondin 3							134.0	119.0	124.0					1																	155169845		2203	4300	6503	SO:0001583	missense	7059				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity	g.chr1:155169845C>G	L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.1768G>C	1.37:g.155169845C>G	ENSP00000357362:p.Asp590His					THBS3_ENST00000541990.1_Missense_Mutation_p.D119H|THBS3_ENST00000541576.1_5'UTR|THBS3_ENST00000428962.2_Silent_p.G386G|RP11-263K19.4_ENST00000447623.1_RNA|RP11-263K19.4_ENST00000436772.1_RNA|THBS3_ENST00000487250.1_5'UTR|THBS3_ENST00000457183.2_Missense_Mutation_p.D470H|RP11-263K19.4_ENST00000453136.1_RNA|RP11-263K19.4_ENST00000454348.1_RNA	p.D590H	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		15	1788	-	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		590					B1AVR8|B4DQ20|Q8WV34	Missense_Mutation	SNP	ENST00000368378.3	37	c.1768G>C	CCDS1099.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.767775	0.90020	.	.	ENSG00000169231	ENST00000368378;ENST00000457183;ENST00000541990	D;D;D	0.99923	-8.01;-8.01;-8.01	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.99957	0.9982	H	0.98295	4.195	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96388	0.9287	10	0.87932	D	0	-21.4199	16.4898	0.84197	0.0:1.0:0.0:0.0	.	470;590;590;590	B4DQ20;Q53FK6;Q2HIZ0;P49746	.;.;.;TSP3_HUMAN	H	590;470;119	ENSP00000357362:D590H;ENSP00000392207:D470H;ENSP00000437353:D119H	ENSP00000357362:D590H	D	-	1	0	THBS3	153436469	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.609000	0.82925	2.837000	0.97791	0.655000	0.94253	GAT		0.532	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086856.1	NM_007112		27	39	0	0	0	1	0	27	39				
USP7	7874	broad.mit.edu	37	16	8989539	8989539	+	Missense_Mutation	SNP	T	T	G			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr16:8989539T>G	ENST00000344836.4	-	27	3077	c.2879A>C	c.(2878-2880)gAa>gCa	p.E960A	USP7_ENST00000535863.1_Missense_Mutation_p.E861A|USP7_ENST00000381886.4_Missense_Mutation_p.E944A	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	960					maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						AGATAAACATTCTAATAGTTC	0.408																																						ENST00000344836.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						c.(2878-2880)gAa>gCa		ubiquitin specific peptidase 7 (herpes virus-associated)							73.0	71.0	72.0					16																	8989539		2197	4300	6497	SO:0001583	missense	7874				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:8989539T>G	Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.2879A>C	16.37:g.8989539T>G	ENSP00000343535:p.Glu960Ala					USP7_ENST00000381886.4_Missense_Mutation_p.E944A|USP7_ENST00000535863.1_Missense_Mutation_p.E861A	p.E960A	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN			27	3077	-			960					A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	ENST00000344836.4	37	c.2879A>C	CCDS32385.1	.	.	.	.	.	.	.	.	.	.	T	18.46	3.628799	0.67015	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863	T;T	0.07327	3.2;3.2	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.10078	0.0247	L	0.50333	1.59	0.80722	D	1	B;B	0.14012	0.009;0.009	B;B	0.17433	0.018;0.018	T	0.14727	-1.0462	10	0.12766	T	0.61	.	15.8527	0.78947	0.0:0.0:0.0:1.0	.	960;944	Q93009;B7Z815	UBP7_HUMAN;.	A	960;968;861	ENSP00000343535:E960A;ENSP00000443646:E861A	ENSP00000343535:E960A	E	-	2	0	USP7	8897040	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.919000	0.87513	2.146000	0.66826	0.528000	0.53228	GAA		0.408	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2			4	35	0	0	0	1	0	4	35				
PLEKHM1P	440456	broad.mit.edu	37	17	62818381	62818381	+	RNA	SNP	C	C	T			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr17:62818381C>T	ENST00000582986.1	-	0	318					NR_024386.1		Q69YJ1	PKHMP_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1 pseudogene						intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)										CGCAAGCGGGCCTGCTCCTGC	0.627																																						ENST00000582986.1																			0																																																			0							g.chr17:62818381C>T			17q24.1	2012-10-03			ENSG00000214176	ENSG00000214176			35411	pseudogene	pseudogene							Standard	NR_024386		Approved	LOC440456	uc002jew.4	Q69YJ1	OTTHUMG00000179296		17.37:g.62818381C>T								NR_024386.1						0	318	-									RNA	SNP	ENST00000582986.1	37			.	.	.	.	.	.	.	.	.	.	C	2.930	-0.221226	0.06061	.	.	ENSG00000214176	ENST00000440036;ENST00000397718	.	.	.	2.78	-1.45	0.08828	.	0.260691	0.39083	N	0.001475	T	0.27967	0.0689	.	.	.	.	.	.	.	.	.	.	.	.	T	0.15983	-1.0418	5	0.28530	T	0.3	.	3.2751	0.06896	0.3029:0.4408:0.0:0.2562	.	.	.	.	T	54;143	.	ENSP00000380830:A143T	A	-	1	0	AC103810.1	60248843	0.000000	0.05858	0.842000	0.33263	0.000000	0.00434	0.271000	0.18626	-0.030000	0.13804	0.000000	0.15137	GCC		0.627	PLEKHM1P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445598.1	NR_024386		6	11	0	0	0	1	0	6	11				
ZNF23	7571	broad.mit.edu	37	16	71482059	71482059	+	Missense_Mutation	SNP	T	T	A			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr16:71482059T>A	ENST00000393539.2	-	6	2682	c.1869A>T	c.(1867-1869)aaA>aaT	p.K623N	ZNF23_ENST00000564528.1_Missense_Mutation_p.K565N|ZNF23_ENST00000428724.2_Missense_Mutation_p.K565N|ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000357254.4_Missense_Mutation_p.K623N|ZNF23_ENST00000539742.1_5'UTR|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000417828.1_Missense_Mutation_p.K623N	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	623					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		ACCTGAATGCTTTCCCACACA	0.403																																						ENST00000393539.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29						c.(1867-1869)aaA>aaT		zinc finger protein 23							105.0	103.0	103.0					16																	71482059		2198	4300	6498	SO:0001583	missense	7571				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:71482059T>A	X52347	CCDS10900.1	16q22.2	2013-03-28	2012-07-12		ENSG00000167377	ENSG00000167377		"""Zinc fingers, C2H2-type"""	13023	protein-coding gene	gene with protein product		194527	"""zinc finger protein 359"""	ZNF359			Standard	NM_145911		Approved	KOX16, Zfp612, ZNF612	uc002faf.3	P17027	OTTHUMG00000176797	ENST00000393539.2:c.1869A>T	16.37:g.71482059T>A	ENSP00000377171:p.Lys623Asn					RP11-510M2.10_ENST00000576258.1_RNA|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000417828.1_Missense_Mutation_p.K623N|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000428724.2_Missense_Mutation_p.K565N|ZNF23_ENST00000564528.1_Missense_Mutation_p.K565N|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000357254.4_Missense_Mutation_p.K623N	p.K623N	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0686)	6	2682	-		Ovarian(137;0.00768)	623					Q8NDP5|Q96IT3|Q9UG42	Missense_Mutation	SNP	ENST00000393539.2	37	c.1869A>T	CCDS10900.1	.	.	.	.	.	.	.	.	.	.	T	16.33	3.091939	0.55968	.	.	ENSG00000167377	ENST00000393539;ENST00000357254;ENST00000417828;ENST00000428724;ENST00000539742;ENST00000358700	T;T;T;T	0.35973	1.28;1.28;1.28;1.28	4.01	2.92	0.33932	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.181579	0.27027	N	0.021298	T	0.63768	0.2539	M	0.92077	3.27	0.32346	N	0.55906	D;D	0.89917	0.999;1.0	D;D	0.87578	0.974;0.998	T	0.72250	-0.4348	10	0.87932	D	0	.	7.8008	0.29174	0.0:0.1021:0.0:0.8979	.	623;623	B3KR55;P17027	.;ZNF23_HUMAN	N	623;623;623;565;565;395	ENSP00000377171:K623N;ENSP00000349796:K623N;ENSP00000395712:K623N;ENSP00000387673:K565N	ENSP00000349796:K623N	K	-	3	2	ZNF23	70039560	0.005000	0.15991	1.000000	0.80357	0.985000	0.73830	0.019000	0.13444	0.897000	0.36392	0.533000	0.62120	AAA		0.403	ZNF23-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268985.23	NM_145911		5	113	0	0	0	1	0	5	113				
UBC	7316	broad.mit.edu	37	12	125397652	125397652	+	Silent	SNP	T	T	C	rs533073686	byFrequency	TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr12:125397652T>C	ENST00000536769.1	-	1	2242	c.666A>G	c.(664-666)gtA>gtG	p.V222V	UBC_ENST00000339647.5_Silent_p.V222V|UBC_ENST00000538617.1_Intron|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000546120.1_Silent_p.V146V|UBC_ENST00000536661.1_5'Flank			P0CG48	UBC_HUMAN	ubiquitin C	222	Ubiquitin-like 3. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TGAGACGGAGTACCAGGTGCA	0.512													-|||	5	0.000998403	0.0	0.0	5008	,	,		27834	0.004		0.0	False		,,,				2504	0.001					ENST00000536769.1																			0				breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(664-666)gtA>gtG		ubiquitin C							228.0	202.0	211.0					12																	125397652		2203	4299	6502	SO:0001819	synonymous_variant	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125397652T>C		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.666A>G	12.37:g.125397652T>C						UBC_ENST00000546120.1_Silent_p.V146V|UBC_ENST00000538617.1_Intron|UBC_ENST00000339647.5_Silent_p.V222V	p.V222V			P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	2242	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		222			Ubiquitin-like 3.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000536769.1	37	c.666A>G	CCDS9260.1																																																																																				0.512	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400177.1	NM_021009		4	149	0	0	0	1	0	4	149				
LRRC4B	94030	broad.mit.edu	37	19	51021545	51021545	+	Silent	SNP	A	A	G			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr19:51021545A>G	ENST00000599957.1	-	3	1622	c.1425T>C	c.(1423-1425)ggT>ggC	p.G475G	LRRC4B_ENST00000389201.3_Silent_p.G475G			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	475	Gly-rich.				positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		ctccaacaccaccactgcccc	0.751																																						ENST00000599957.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30						c.(1423-1425)ggT>ggC		leucine rich repeat containing 4B							7.0	9.0	8.0					19																	51021545		1726	3882	5608	SO:0001819	synonymous_variant	94030					cell junction|integral to membrane|presynaptic membrane		g.chr19:51021545A>G	BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"""Immunoglobulin superfamily / I-set domain containing"", ""Endogenous ligands"""	25042	protein-coding gene	gene with protein product	"""netrin-G3 ligand"""		"""leucine-rich repeats and immunoglobulin-like domains 4"""	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.1425T>C	19.37:g.51021545A>G						LRRC4B_ENST00000389201.3_Silent_p.G475G	p.G475G			Q9NT99	LRC4B_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)	3	1622	-		all_neural(266;0.131)	475			Gly-rich.		Q3ZCQ4|Q58F20	Silent	SNP	ENST00000599957.1	37	c.1425T>C	CCDS42595.1																																																																																				0.751	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	NM_001080457		3	8	0	0	0	1	0	3	8				
FMO1	2326	broad.mit.edu	37	1	171251205	171251205	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr1:171251205G>A	ENST00000354841.4	+	6	1047	c.916G>A	c.(916-918)Gta>Ata	p.V306I	FMO1_ENST00000367750.3_Missense_Mutation_p.V306I|FMO1_ENST00000402921.2_Missense_Mutation_p.V243I|FMO1_ENST00000469112.1_3'UTR	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	306					NADPH oxidation (GO:0070995)|organic acid metabolic process (GO:0006082)|small molecule metabolic process (GO:0044281)|toxin metabolic process (GO:0009404)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|monooxygenase activity (GO:0004497)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Cevimeline(DB00185)|Cimetidine(DB00501)|Lorcaserin(DB04871)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	CATAAAAGAGGTAAAGGAAAA	0.408																																						ENST00000354841.4																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27						c.(916-918)Gta>Ata		flavin containing monooxygenase 1							105.0	97.0	100.0					1																	171251205		2203	4300	6503	SO:0001583	missense	2326				NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171251205G>A	M64082	CCDS1294.1, CCDS60351.1	1q24.3	2011-08-04			ENSG00000010932	ENSG00000010932	1.14.13.8		3769	protein-coding gene	gene with protein product		136130					Standard	XM_005245037		Approved		uc001ghl.3	Q01740	OTTHUMG00000035502	ENST00000354841.4:c.916G>A	1.37:g.171251205G>A	ENSP00000346901:p.Val306Ile					FMO1_ENST00000402921.2_Missense_Mutation_p.V243I|FMO1_ENST00000367750.3_Missense_Mutation_p.V306I|FMO1_ENST00000469112.1_3'UTR	p.V306I			Q01740	FMO1_HUMAN			6	1047	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		306					A8K248|B7Z3P4|Q5QPT2|Q9UJC2	Missense_Mutation	SNP	ENST00000354841.4	37	c.916G>A	CCDS1294.1	.	.	.	.	.	.	.	.	.	.	G	4.974	0.180828	0.09443	.	.	ENSG00000010932	ENST00000367750;ENST00000402921;ENST00000354841	T;T;T	0.53423	0.62;0.62;0.62	6.16	5.26	0.73747	.	0.210963	0.42053	D	0.000770	T	0.12944	0.0314	N	0.20807	0.61	0.28999	N	0.88759	P;B;B	0.40398	0.716;0.024;0.195	B;B;B	0.35039	0.194;0.141;0.114	T	0.04678	-1.0934	10	0.44086	T	0.13	-15.704	6.2736	0.20969	0.1497:0.0:0.7002:0.1501	.	243;306;306	B7Z3P4;B2RCG5;Q01740	.;.;FMO1_HUMAN	I	306;243;306	ENSP00000356724:V306I;ENSP00000385543:V243I;ENSP00000346901:V306I	ENSP00000346901:V306I	V	+	1	0	FMO1	169517829	1.000000	0.71417	0.983000	0.44433	0.065000	0.16274	1.498000	0.35660	1.628000	0.50416	-0.145000	0.13849	GTA		0.408	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086212.1	NM_002021		13	78	0	0	0	1	0	13	78				
KCNT2	343450	broad.mit.edu	37	1	196254839	196254839	+	Missense_Mutation	SNP	A	A	G			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr1:196254839A>G	ENST00000294725.9	-	23	3560	c.2645T>C	c.(2644-2646)tTt>tCt	p.F882S	KCNT2_ENST00000609185.1_Missense_Mutation_p.F808S|KCNT2_ENST00000367433.5_Missense_Mutation_p.F858S|KCNT2_ENST00000367431.4_Missense_Mutation_p.F808S|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_3'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	882					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CCCAGCAGCAAAAGGCAGTCG	0.373																																						ENST00000367433.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						c.(2572-2574)tTt>tCt		potassium channel, subfamily T, member 2							85.0	83.0	83.0					1																	196254839		2203	4300	6503	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196254839A>G	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.2645T>C	1.37:g.196254839A>G	ENSP00000294725:p.Phe882Ser					KCNT2_ENST00000367431.4_Missense_Mutation_p.F808S|KCNT2_ENST00000294725.8_Missense_Mutation_p.F882S|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_3'UTR	p.F858S			Q6UVM3	KCNT2_HUMAN			22	2674	-			882					Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.2573T>C	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.583224	0.86748	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.77620	-1.11;-1.11;-1.11	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000002	D	0.89602	0.6762	M	0.88031	2.925	0.80722	D	1	D;D;D;D;D	0.69078	0.994;0.997;0.996;0.997;0.994	D;D;D;D;D	0.76575	0.915;0.98;0.961;0.988;0.915	D	0.91474	0.5199	10	0.87932	D	0	-27.8216	15.1733	0.72891	1.0:0.0:0.0:0.0	.	882;840;858;808;882	A9LNM6;Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;.;KCNT2_HUMAN	S	858;808;882	ENSP00000356403:F858S;ENSP00000356401:F808S;ENSP00000294725:F882S	ENSP00000294725:F882S	F	-	2	0	KCNT2	194521462	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.608000	0.90895	2.287000	0.76781	0.482000	0.46254	TTT		0.373	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		5	17	0	0	0	1	0	5	17				
MYO15A	51168	broad.mit.edu	37	17	18025164	18025164	+	Missense_Mutation	SNP	C	C	A			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr17:18025164C>A	ENST00000205890.5	+	2	3388	c.3050C>A	c.(3049-3051)aCc>aAc	p.T1017N		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1017					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GAAGAGGCCACCCTGGGGGAC	0.622																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(3049-3051)aCc>aAc		myosin XVA							33.0	39.0	37.0					17																	18025164		1912	4123	6035	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18025164C>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.3050C>A	17.37:g.18025164C>A	ENSP00000205890:p.Thr1017Asn						p.T1017N	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			2	3388	+	all_neural(463;0.228)		1017			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.3050C>A	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	c	12.75	2.031926	0.35893	.	.	ENSG00000091536	ENST00000205890	D	0.87650	-2.28	4.83	-8.82	0.00810	.	.	.	.	.	T	0.72906	0.3519	N	0.24115	0.695	0.09310	N	1	B	0.21309	0.054	B	0.16722	0.016	T	0.57493	-0.7802	9	0.36615	T	0.2	.	8.3316	0.32189	0.0:0.1624:0.4955:0.342	.	1017	Q9UKN7	MYO15_HUMAN	N	1017	ENSP00000205890:T1017N	ENSP00000205890:T1017N	T	+	2	0	MYO15A	17965889	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-1.245000	0.02899	-1.360000	0.02172	-0.266000	0.10368	ACC		0.622	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		3	43	1	0	0.115264	1	0.117094	3	43				
UNC13C	440279	broad.mit.edu	37	15	54586209	54586209	+	Missense_Mutation	SNP	C	C	G	rs540590852		TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr15:54586209C>G	ENST00000260323.11	+	10	3935	c.3935C>G	c.(3934-3936)aCa>aGa	p.T1312R	UNC13C_ENST00000537900.1_Missense_Mutation_p.T1310R|UNC13C_ENST00000545554.1_Missense_Mutation_p.T1312R	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1312	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTGGGACAAACAATTGTAGAA	0.353																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(3934-3936)aCa>aGa		unc-13 homolog C (C. elegans)							232.0	236.0	235.0					15																	54586209		1893	4120	6013	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54586209C>G	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.3935C>G	15.37:g.54586209C>G	ENSP00000260323:p.Thr1312Arg					UNC13C_ENST00000260323.11_Missense_Mutation_p.T1312R|UNC13C_ENST00000537900.1_Missense_Mutation_p.T1310R	p.T1312R			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	10	3935	+			1312			C2 1.		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.3935C>G	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.741279	0.89573	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.69806	-0.43;-0.43;-0.43	5.91	5.91	0.95273	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.047508	0.85682	D	0.000000	T	0.76198	0.3954	L	0.35288	1.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.77477	-0.2573	10	0.87932	D	0	.	19.2934	0.94112	0.0:1.0:0.0:0.0	.	1312;1312	F5H090;Q8NB66	.;UN13C_HUMAN	R	1312;1312;1310	ENSP00000260323:T1312R;ENSP00000438156:T1312R;ENSP00000442569:T1310R	ENSP00000260323:T1312R	T	+	2	0	UNC13C	52373501	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	2.814000	0.96858	0.650000	0.86243	ACA		0.353	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		4	82	0	0	0	1	0	4	82				
DLEC1	9940	broad.mit.edu	37	3	38101265	38101265	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr3:38101265G>A	ENST00000308059.6	+	3	616	c.595G>A	c.(595-597)Gag>Aag	p.E199K	DLEC1_ENST00000452631.2_Missense_Mutation_p.E199K|DLEC1_ENST00000346219.3_Missense_Mutation_p.E199K					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		TATAGACAGCGAGTTGCTACG	0.468																																						ENST00000308059.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51						c.(595-597)Gag>Aag		deleted in lung and esophageal cancer 1							196.0	192.0	193.0					3																	38101265		1936	4147	6083	SO:0001583	missense	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38101265G>A	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.595G>A	3.37:g.38101265G>A	ENSP00000308597:p.Glu199Lys					DLEC1_ENST00000452631.2_Missense_Mutation_p.E199K|DLEC1_ENST00000346219.3_Missense_Mutation_p.E199K	p.E199K			Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	3	616	+			199						Missense_Mutation	SNP	ENST00000308059.6	37	c.595G>A	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	G	5.905	0.351141	0.11182	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.05925	3.39;3.37;3.62	4.99	0.0447	0.14227	.	0.639148	0.17125	N	0.186079	T	0.03095	0.0091	L	0.37850	1.14	0.09310	N	1	B;P;B	0.43392	0.252;0.805;0.252	B;B;B	0.27796	0.049;0.083;0.049	T	0.47222	-0.9134	10	0.23891	T	0.37	-10.0239	4.8199	0.13385	0.3467:0.1607:0.4926:0.0	.	199;199;199	F8W6T4;Q9Y238-3;Q9Y238	.;.;DLEC1_HUMAN	K	199	ENSP00000308597:E199K;ENSP00000315914:E199K;ENSP00000410427:E199K	ENSP00000308597:E199K	E	+	1	0	DLEC1	38076269	0.067000	0.21026	0.000000	0.03702	0.501000	0.33797	0.838000	0.27572	-0.192000	0.10432	-1.869000	0.00555	GAG		0.468	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		8	191	0	0	0	1	0	8	191				
RP11-180I4.2	0	broad.mit.edu	37	9	98468147	98468148	+	lincRNA	INS	-	-	CAC	rs561681898|rs199576323|rs371929980|rs370440321|rs367832466		TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr9:98468147_98468148insCAC	ENST00000580326.1	+	0	189																											acaatcaccatcaccaccacca	0.574																																						ENST00000580326.1																			0																																																			0							g.chr9:98468147_98468148insCAC																													9.37:g.98468154_98468156dupCAC														0	189	+									RNA	INS	ENST00000580326.1	37																																																																																						0.574	RP11-180I4.2-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000444750.1			4	2						4	2	---	---	---	---
TRAV9-2	28677	broad.mit.edu	37	14	22409540	22409540	+	RNA	DEL	T	T	-	rs200693606|rs371270332		TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr14:22409540delT	ENST00000390441.2	+	0	102									T cell receptor alpha variable 9-2																		tctctctctctTTTTTTTTTT	0.428																																						ENST00000390441.2																			0																				23.0	21.0	22.0					14																	22409540		1798	4052	5850			0							g.chr14:22409540delT	AE000659		14q11.2	2012-02-07			ENSG00000211793	ENSG00000211793		"""T cell receptors / TRA locus"""	12154	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000170637		14.37:g.22409540delT														0	102	+									RNA	DEL	ENST00000390441.2	37																																																																																						0.428	TRAV9-2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409885.1	NG_001332		2	4						2	4	---	---	---	---
GPATCH8	23131	broad.mit.edu	37	17	42476814	42476815	+	Frame_Shift_Ins	INS	-	-	T			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr17:42476814_42476815insT	ENST00000591680.1	-	8	2660_2661	c.2630_2631insA	c.(2629-2631)tctfs	p.S877fs	GPATCH8_ENST00000434000.1_Frame_Shift_Ins_p.S799fs	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	877	Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TCTGGTCTGAAGAGGCATCTGA	0.554																																						ENST00000434000.1																			0				breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50						c.(2395-2397)ttcfs		G patch domain containing 8																																				SO:0001589	frameshift_variant	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42476814_42476815insT	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.2630_2631insA	17.37:g.42476814_42476815insT	ENSP00000467556:p.Ser877fs					GPATCH8_ENST00000591680.1_Frame_Shift_Ins_p.F877fs	p.F799fs			Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	9	2678_2679	-		Prostate(33;0.0181)	877					B9EGP9|O60300|Q8TB99	Frame_Shift_Ins	INS	ENST00000591680.1	37	c.2396_2397insA	CCDS32666.1																																																																																				0.554	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		22	39						22	39	---	---	---	---
RPL9P28	729146	broad.mit.edu	37	17	46768842	46768842	+	lincRNA	DEL	T	T	-			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr17:46768842delT	ENST00000575202.1	+	0	51																											ACTACAAATATTCTGAACGGC	0.458																																						ENST00000575202.1																			0																																																			0							g.chr17:46768842delT																													17.37:g.46768842delT														0	51	+									RNA	DEL	ENST00000575202.1	37																																																																																						0.458	CTD-2377D24.8-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000440736.1			9	12						9	12	---	---	---	---
ZNF512B	57473	broad.mit.edu	37	20	62593996	62593996	+	Frame_Shift_Del	DEL	C	C	-			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr20:62593996delC	ENST00000450537.1	-	13	2167	c.2107delG	c.(2107-2109)gccfs	p.A703fs	ZNF512B_ENST00000369888.1_Frame_Shift_Del_p.A703fs|ZNF512B_ENST00000217130.3_Frame_Shift_Del_p.A703fs			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	703					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CAGTCGCGGGCCAGCTCGTCC	0.716																																						ENST00000450537.1																			0				NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33						c.(2107-2109)ccfs		zinc finger protein 512B							17.0	16.0	17.0					20																	62593996		2191	4281	6472	SO:0001589	frameshift_variant	57473				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:62593996delC	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.2107delG	20.37:g.62593996delC	ENSP00000393795:p.Ala703fs					ZNF512B_ENST00000369888.1_Frame_Shift_Del_p.A703fs|ZNF512B_ENST00000217130.3_Frame_Shift_Del_p.A703fs	p.A703fs			Q96KM6	Z512B_HUMAN			13	2167	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		703					Q08AK9|Q9ULM4	Frame_Shift_Del	DEL	ENST00000450537.1	37	c.2107delG	CCDS13548.1																																																																																				0.716	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		2	4						2	4	---	---	---	---
