#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
KIAA1614	57710	broad.mit.edu	37	1	180904874	180904874	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr1:180904874C>G	ENST00000367588.4	+	5	1884	c.1829C>G	c.(1828-1830)tCt>tGt	p.S610C	KIAA1614_ENST00000367587.1_Missense_Mutation_p.S231C	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	610										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GAGGTGGACTCTGCCCTGGAC	0.652																																						ENST00000367588.4																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						c.(1828-1830)tCt>tGt		KIAA1614							27.0	32.0	30.0					1																	180904874		2176	4262	6438	SO:0001583	missense	57710							g.chr1:180904874C>G	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.1829C>G	1.37:g.180904874C>G	ENSP00000356560:p.Ser610Cys					KIAA1614_ENST00000367587.1_Missense_Mutation_p.S231C	p.S610C	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN			5	1884	+			610					Q5VZ45|Q9HCF8	Missense_Mutation	SNP	ENST00000367588.4	37	c.1829C>G	CCDS41442.1	.	.	.	.	.	.	.	.	.	.	c	15.06	2.720021	0.48728	.	.	ENSG00000135835	ENST00000367588;ENST00000367587	T;T	0.53857	1.11;0.6	4.96	4.96	0.65561	.	0.351261	0.28125	N	0.016513	T	0.68513	0.3009	L	0.61218	1.895	0.31697	N	0.6411020000000001	D	0.89917	1.0	D	0.66351	0.943	T	0.74881	-0.3513	9	0.62326	D	0.03	-3.0454	15.9644	0.79956	0.0:1.0:0.0:0.0	.	610	Q5VZ46	K1614_HUMAN	C	610;231	ENSP00000356560:S610C;ENSP00000356559:S231C	ENSP00000356559:S231C	S	+	2	0	KIAA1614	179171497	0.980000	0.34600	0.352000	0.25734	0.007000	0.05969	2.549000	0.45803	2.281000	0.76405	0.556000	0.70494	TCT		0.652	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531		11	21	11	21	---	---	---	---
KIAA1614	57710	broad.mit.edu	37	1	180905490	180905490	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr1:180905490A>C	ENST00000367588.4	+	5	2500	c.2445A>C	c.(2443-2445)aaA>aaC	p.K815N	KIAA1614_ENST00000367587.1_Missense_Mutation_p.K436N	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	815										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						CTTCGAGGAAAACCACCTCGC	0.617																																						ENST00000367588.4																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						c.(2443-2445)aaA>aaC		KIAA1614							47.0	51.0	50.0					1																	180905490		1965	4147	6112	SO:0001583	missense	57710							g.chr1:180905490A>C	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.2445A>C	1.37:g.180905490A>C	ENSP00000356560:p.Lys815Asn					KIAA1614_ENST00000367587.1_Missense_Mutation_p.K436N	p.K815N	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN			5	2500	+			815					Q5VZ45|Q9HCF8	Missense_Mutation	SNP	ENST00000367588.4	37	c.2445A>C	CCDS41442.1	.	.	.	.	.	.	.	.	.	.	A	14.03	2.412304	0.42817	.	.	ENSG00000135835	ENST00000367588;ENST00000367587	T;T	0.61392	0.11;0.11	4.51	2.18	0.27775	.	0.319435	0.28533	N	0.015007	T	0.57829	0.2080	L	0.34521	1.04	0.31782	N	0.6307309999999999	D	0.61697	0.99	P	0.59487	0.858	T	0.65487	-0.6156	9	0.52906	T	0.07	-4.205	9.0759	0.36522	0.8288:0.0:0.1712:0.0	.	815	Q5VZ46	K1614_HUMAN	N	815;436	ENSP00000356560:K815N;ENSP00000356559:K436N	ENSP00000356559:K436N	K	+	3	2	KIAA1614	179172113	0.000000	0.05858	0.020000	0.16555	0.003000	0.03518	0.128000	0.15810	0.129000	0.18514	-1.447000	0.01057	AAA		0.617	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531		14	28	14	28	---	---	---	---
SULT1C3	442038	broad.mit.edu	37	2	108869816	108869816	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr2:108869816T>C	ENST00000329106.2	+	3	317	c.317T>C	c.(316-318)cTt>cCt	p.L106P	SULT1C3_ENST00000376700.1_Missense_Mutation_p.L106P	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	106					sulfur compound metabolic process (GO:0006790)	cytoplasm (GO:0005737)	alcohol sulfotransferase activity (GO:0004027)|aryl sulfotransferase activity (GO:0004062)			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						GAGTTCGTTCTTGAAATGTCC	0.363																																						ENST00000329106.2																			0				breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						c.(316-318)cTt>cCt		sulfotransferase family, cytosolic, 1C, member 3							107.0	101.0	103.0					2																	108869816		2203	4300	6503	SO:0001583	missense	442038					cytoplasm	alcohol sulfotransferase activity	g.chr2:108869816T>C	BC146362	CCDS33267.1	2q12.3	2007-07-26			ENSG00000196228	ENSG00000196228		"""Sulfotransferases, cytosolic"""	33543	protein-coding gene	gene with protein product						14676822, 17425406	Standard	NM_001008743		Approved		uc010ywo.2	Q6IMI6	OTTHUMG00000153227	ENST00000329106.2:c.317T>C	2.37:g.108869816T>C	ENSP00000333310:p.Leu106Pro					SULT1C3_ENST00000376700.1_Missense_Mutation_p.L106P	p.L106P	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN			3	317	+			106					Q6IMI5	Missense_Mutation	SNP	ENST00000329106.2	37	c.317T>C	CCDS33267.1	.	.	.	.	.	.	.	.	.	.	T	10.03	1.240148	0.22711	.	.	ENSG00000196228	ENST00000329106;ENST00000376700	D;D	0.81996	-1.56;-1.56	2.8	-5.11	0.02901	Sulfotransferase domain (1);	2.000900	0.03178	N	0.171731	T	0.75852	0.3906	N	0.12637	0.245	0.09310	N	1	B	0.33073	0.396	B	0.43623	0.425	T	0.68891	-0.5289	10	0.54805	T	0.06	.	11.6966	0.51546	0.8088:0.0:0.0:0.1912	.	106	Q6IMI6	ST1C3_HUMAN	P	106	ENSP00000333310:L106P;ENSP00000365890:L106P	ENSP00000333310:L106P	L	+	2	0	SULT1C3	108236248	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.358000	0.00499	-1.209000	0.02631	0.383000	0.25322	CTT		0.363	SULT1C3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330255.1	NM_001008743		12	45	12	45	---	---	---	---
HS6ST1	9394	broad.mit.edu	37	2	129075918	129075918	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr2:129075918C>T	ENST00000259241.6	-	1	233	c.220G>A	c.(220-222)Gag>Aag	p.E74K	HS6ST1_ENST00000494089.1_5'UTR	NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	74					angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|labyrinthine layer blood vessel development (GO:0060716)|lung alveolus development (GO:0048286)|neuron development (GO:0048666)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)|sulfotransferase activity (GO:0008146)			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		CGCTCCAGCTCGCGGACCGGG	0.692																																						ENST00000259241.6																			0				endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15						c.(220-222)Gag>Aag		heparan sulfate 6-O-sulfotransferase 1							19.0	28.0	25.0					2																	129075918		1953	4157	6110	SO:0001583	missense	9394				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity	g.chr2:129075918C>T	AB006179	CCDS42748.1	2q21	2010-03-19		2002-08-23	ENSG00000136720	ENSG00000136720		"""Sulfotransferases, membrane-bound"""	5201	protein-coding gene	gene with protein product		604846		HS6ST		9535912	Standard	NM_004807		Approved		uc002tpt.4	O60243	OTTHUMG00000153542	ENST00000259241.6:c.220G>A	2.37:g.129075918C>T	ENSP00000259241:p.Glu74Lys					HS6ST1_ENST00000494089.1_5'UTR	p.E74K	NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	1	233	-	Colorectal(110;0.1)		74					B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Missense_Mutation	SNP	ENST00000259241.6	37	c.220G>A	CCDS42748.1	.	.	.	.	.	.	.	.	.	.	c	20.5	3.997775	0.74818	.	.	ENSG00000136720	ENST00000259241	T	0.41065	1.01	3.16	3.16	0.36331	.	0.061140	0.64402	U	0.000004	T	0.20210	0.0486	N	0.14661	0.345	0.52501	D	0.999954	P	0.34934	0.476	B	0.19946	0.027	T	0.07966	-1.0745	9	.	.	.	.	11.7632	0.51916	0.0:1.0:0.0:0.0	.	74	O60243	H6ST1_HUMAN	K	74	ENSP00000259241:E74K	.	E	-	1	0	HS6ST1	128792388	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	4.901000	0.63259	1.600000	0.50102	0.313000	0.20887	GAG		0.692	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331572.1	NM_004807		5	22	5	22	---	---	---	---
PIKFYVE	200576	broad.mit.edu	37	2	209190015	209190015	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr2:209190015T>G	ENST00000264380.4	+	20	2638	c.2480T>G	c.(2479-2481)tTt>tGt	p.F827C		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	827					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						ACACTGATGTTTTTTGAAGGT	0.388																																						ENST00000264380.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						c.(2479-2481)tTt>tGt		phosphoinositide kinase, FYVE finger containing							52.0	48.0	50.0					2																	209190015		2203	4300	6503	SO:0001583	missense	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209190015T>G	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.2480T>G	2.37:g.209190015T>G	ENSP00000264380:p.Phe827Cys						p.F827C	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN			20	2638	+			827					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	c.2480T>G	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	T	19.08	3.758239	0.69763	.	.	ENSG00000115020	ENST00000264380;ENST00000392200;ENST00000452564	T;T	0.80738	-1.41;-1.41	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.89466	0.6723	M	0.74647	2.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.90550	0.4508	10	0.87932	D	0	-19.809	16.3818	0.83467	0.0:0.0:0.0:1.0	.	827;771	Q9Y2I7;E9PDH4	FYV1_HUMAN;.	C	827;403;771	ENSP00000264380:F827C;ENSP00000405736:F771C	ENSP00000264380:F827C	F	+	2	0	PIKFYVE	208898260	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.997000	0.88414	2.330000	0.79161	0.528000	0.53228	TTT		0.388	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		12	27	12	27	---	---	---	---
QRICH1	54870	broad.mit.edu	37	3	49069649	49069649	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr3:49069649G>C	ENST00000395443.2	-	9	2577	c.2105C>G	c.(2104-2106)cCc>cGc	p.P702R	QRICH1_ENST00000357496.2_Missense_Mutation_p.P702R|QRICH1_ENST00000479449.1_5'Flank|IMPDH2_ENST00000326739.4_5'Flank|QRICH1_ENST00000424300.1_Missense_Mutation_p.P702R|RP13-131K19.6_ENST00000607245.1_RNA	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	702						nucleus (GO:0005634)		p.P702L(1)		breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GAGCTTGATGGGACATCTCAA	0.453																																						ENST00000395443.2																			1	Substitution - Missense(1)	p.P702L(1)	skin(1)	breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25						c.(2104-2106)cCc>cGc		glutamine-rich 1							240.0	200.0	213.0					3																	49069649		2203	4300	6503	SO:0001583	missense	54870							g.chr3:49069649G>C		CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.2105C>G	3.37:g.49069649G>C	ENSP00000378830:p.Pro702Arg					QRICH1_ENST00000424300.1_Missense_Mutation_p.P702R|QRICH1_ENST00000357496.2_Missense_Mutation_p.P702R	p.P702R	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	9	2577	-			702					Q4G0F7|Q7L621|Q8TEA5	Missense_Mutation	SNP	ENST00000395443.2	37	c.2105C>G	CCDS2787.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.916815	0.92249	.	.	ENSG00000198218	ENST00000395443;ENST00000357496;ENST00000424300	.	.	.	5.27	5.27	0.74061	.	0.097128	0.64402	D	0.000001	D	0.83207	0.5204	M	0.83774	2.66	0.80722	D	1	D	0.62365	0.991	D	0.67382	0.951	D	0.85809	0.1378	9	0.87932	D	0	-3.5773	18.9477	0.92628	0.0:0.0:1.0:0.0	.	702	Q2TAL8	QRIC1_HUMAN	R	702	.	ENSP00000350094:P702R	P	-	2	0	QRICH1	49044653	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.367000	0.97148	2.490000	0.84030	0.585000	0.79938	CCC		0.453	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730		9	62	9	62	---	---	---	---
ANKRD50	57182	broad.mit.edu	37	4	125631656	125631656	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr4:125631656G>T	ENST00000504087.1	-	2	1048	c.11C>A	c.(10-12)cCt>cAt	p.P4H	ANKRD50_ENST00000515641.1_Intron	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	4										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						CTCTTCCCAAGGATTAGTCAT	0.403																																						ENST00000504087.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						c.(10-12)cCt>cAt		ankyrin repeat domain 50																																				SO:0001583	missense	57182							g.chr4:125631656G>T	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.11C>A	4.37:g.125631656G>T	ENSP00000425658:p.Pro4His					ANKRD50_ENST00000515641.1_Intron	p.P4H	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN			2	1048	-			4					A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	c.11C>A	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.568094	0.65651	.	.	ENSG00000151458	ENST00000504087	T	0.18174	2.23	4.99	4.99	0.66335	.	0.000000	0.53938	D	0.000045	T	0.13030	0.0316	N	0.08118	0	0.80722	D	1	D	0.52996	0.957	P	0.45377	0.478	T	0.08785	-1.0705	10	0.87932	D	0	.	16.9949	0.86365	0.0:0.0:1.0:0.0	.	4	Q9ULJ7	ANR50_HUMAN	H	4	ENSP00000425658:P4H	ENSP00000425658:P4H	P	-	2	0	ANKRD50	125851106	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.821000	0.48065	2.756000	0.94617	0.561000	0.74099	CCT		0.403	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		4	168	4	168	---	---	---	---
UGT3A1	133688	broad.mit.edu	37	5	35968133	35968133	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr5:35968133G>T	ENST00000274278.3	-	3	656	c.299C>A	c.(298-300)gCa>gAa	p.A100E	UGT3A1_ENST00000507113.1_Missense_Mutation_p.A66E|UGT3A1_ENST00000333811.4_Missense_Mutation_p.A46E|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000503189.1_Missense_Mutation_p.A100E	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	100						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCCATCCAATGCTGTTTCTAT	0.328																																						ENST00000274278.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46						c.(298-300)gCa>gAa		UDP glycosyltransferase 3 family, polypeptide A1							99.0	94.0	95.0					5																	35968133		2203	4300	6503	SO:0001583	missense	133688					integral to membrane	glucuronosyltransferase activity	g.chr5:35968133G>T		CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"""UDP glucuronosyltransferases"""	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.299C>A	5.37:g.35968133G>T	ENSP00000274278:p.Ala100Glu					UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000503189.1_Missense_Mutation_p.A100E|UGT3A1_ENST00000507113.1_Missense_Mutation_p.A66E|UGT3A1_ENST00000333811.4_Missense_Mutation_p.A46E	p.A100E	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		3	656	-	all_lung(31;0.000197)		100					G5E961|Q8IYS9|Q8NAW4|Q96DM6	Missense_Mutation	SNP	ENST00000274278.3	37	c.299C>A	CCDS3913.1	.	.	.	.	.	.	.	.	.	.	G	6.173	0.400179	0.11696	.	.	ENSG00000145626	ENST00000274278;ENST00000503189;ENST00000507113;ENST00000333811	T;T;T;T	0.61274	0.22;0.22;0.12;0.12	2.7	0.426	0.16479	.	31.386800	0.00664	N	0.000605	T	0.51398	0.1672	L	0.46157	1.445	0.09310	N	1	P;B;P;B	0.39940	0.695;0.27;0.696;0.24	P;B;B;B	0.45946	0.498;0.216;0.438;0.232	T	0.40701	-0.9549	10	0.02654	T	1	.	3.6144	0.08071	0.1752:0.4147:0.4101:0.0	.	66;100;46;100	E9PD17;B7Z8Q8;G5E961;Q6NUS8	.;.;.;UD3A1_HUMAN	E	100;100;66;46	ENSP00000274278:A100E;ENSP00000427079:A100E;ENSP00000426100:A66E;ENSP00000328033:A46E	ENSP00000274278:A100E	A	-	2	0	UGT3A1	36003890	0.000000	0.05858	0.001000	0.08648	0.029000	0.11900	-1.168000	0.03123	0.241000	0.21283	0.455000	0.32223	GCA		0.328	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404		10	21	10	21	---	---	---	---
SLIT3	6586	broad.mit.edu	37	5	168176626	168176626	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr5:168176626T>C	ENST00000519560.1	-	19	2407	c.1988A>G	c.(1987-1989)aAc>aGc	p.N663S	SLIT3_ENST00000404867.3_Missense_Mutation_p.N663S|SLIT3_ENST00000332966.8_Missense_Mutation_p.N663S	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	663	LRRCT 3.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTTGAAGGGGTTGGACAGGAG	0.587																																					Ovarian(29;311 847 10864 17279 24903)	ENST00000519560.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(1987-1989)aAc>aGc		slit homolog 3 (Drosophila)							107.0	119.0	115.0					5																	168176626		2203	4300	6503	SO:0001583	missense	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168176626T>C	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.1988A>G	5.37:g.168176626T>C	ENSP00000430333:p.Asn663Ser					SLIT3_ENST00000404867.3_Missense_Mutation_p.N663S|SLIT3_ENST00000332966.8_Missense_Mutation_p.N663S	p.N663S	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		19	2407	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	663			LRRCT 3.		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	c.1988A>G	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.558835	0.86231	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.72505	-0.66;-0.66;-0.66	5.42	5.42	0.78866	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89100	0.6619	H	0.96239	3.79	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92565	0.6061	10	0.87932	D	0	.	15.4652	0.75394	0.0:0.0:0.0:1.0	.	663	O75094	SLIT3_HUMAN	S	663	ENSP00000430333:N663S;ENSP00000332164:N663S;ENSP00000384890:N663S	ENSP00000332164:N663S	N	-	2	0	SLIT3	168109204	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.698000	0.84413	2.043000	0.60533	0.533000	0.62120	AAC		0.587	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		28	62	28	62	---	---	---	---
MGAM	8972	broad.mit.edu	37	7	141758013	141758013	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr7:141758013G>A	ENST00000549489.2	+	31	3799	c.3704G>A	c.(3703-3705)cGg>cAg	p.R1235Q	MGAM_ENST00000475668.2_Missense_Mutation_p.R1235Q	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1235	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTGATTGGCCGGCCTGTGATG	0.438																																						ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(3703-3705)cGg>cAg		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						257.0	248.0	251.0					7																	141758013		1899	4110	6009	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141758013G>A	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.3704G>A	7.37:g.141758013G>A	ENSP00000447378:p.Arg1235Gln					MGAM_ENST00000549489.2_Missense_Mutation_p.R1235Q	p.R1235Q			O43451	MGA_HUMAN			31	3758	+	Melanoma(164;0.0272)		1235			Glucoamylase.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.3704G>A	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	g	15.08	2.727725	0.48833	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.91894	-2.93	3.72	2.82	0.32997	Glycoside hydrolase, superfamily (1);	.	.	.	.	D	0.91710	0.7379	M	0.88775	2.98	0.34644	D	0.720921	P	0.51933	0.949	B	0.40659	0.336	D	0.91493	0.5213	9	0.38643	T	0.18	.	10.4401	0.44460	0.1032:0.0:0.8968:0.0	.	1235	O43451	MGA_HUMAN	Q	1235;1235;1112	ENSP00000447378:R1235Q	ENSP00000316431:R1112Q	R	+	2	0	MGAM	141404482	1.000000	0.71417	0.809000	0.32408	0.350000	0.29205	6.483000	0.73617	0.521000	0.28445	0.173000	0.16961	CGG		0.438	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			4	262	4	262	---	---	---	---
ADAMTSL1	92949	broad.mit.edu	37	9	18474243	18474243	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr9:18474243C>G	ENST00000380548.4	+	1	352	c.13C>G	c.(13-15)Cgt>Ggt	p.R5G	ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.R5G|ADAMTSL1_ENST00000380570.4_Missense_Mutation_p.R5G|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.R5G|ADAMTSL1_ENST00000431052.2_Missense_Mutation_p.R5G|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.R5G	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	5						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GGAATGCTGCCGTCGGGCAAC	0.507																																						ENST00000380548.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.(13-15)Cgt>Ggt		ADAMTS-like 1							185.0	159.0	168.0					9																	18474243		2203	4300	6503	SO:0001583	missense	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18474243C>G	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.13C>G	9.37:g.18474243C>G	ENSP00000369921:p.Arg5Gly					ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.R5G|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.R5G|ADAMTSL1_ENST00000431052.2_Missense_Mutation_p.R5G|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.R5G|ADAMTSL1_ENST00000380570.4_Missense_Mutation_p.R5G	p.R5G	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	1	352	+			5					A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	c.13C>G	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.385968	0.25031	.	.	ENSG00000178031	ENST00000380548;ENST00000327883;ENST00000431052;ENST00000380570;ENST00000380566;ENST00000276935	T;T;T;T;T;T	0.66638	-0.01;-0.0;-0.15;-0.22;-0.06;-0.03	5.84	5.84	0.93424	.	.	.	.	.	T	0.50120	0.1597	N	0.08118	0	0.80722	D	1	B;B	0.15473	0.013;0.0	B;B	0.14023	0.01;0.002	T	0.49331	-0.8951	9	0.87932	D	0	.	16.3845	0.83500	0.0:0.8684:0.1316:0.0	.	5;5	Q8N6G6;Q8N6G6-2	ATL1_HUMAN;.	G	5	ENSP00000369921:R5G;ENSP00000327887:R5G;ENSP00000401157:R5G;ENSP00000369944:R5G;ENSP00000369940:R5G;ENSP00000276935:R5G	ENSP00000276935:R5G	R	+	1	0	ADAMTSL1	18464243	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.448000	0.35112	2.751000	0.94390	0.655000	0.94253	CGT		0.507	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			39	52	39	52	---	---	---	---
MUSK	4593	broad.mit.edu	37	9	113431241	113431241	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr9:113431241C>A	ENST00000374448.4	+	1	191	c.57C>A	c.(55-57)agC>agA	p.S19R	MUSK_ENST00000374440.3_5'UTR|MUSK_ENST00000416899.2_Missense_Mutation_p.S19R|MUSK_ENST00000189978.5_Missense_Mutation_p.S19R	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	19					cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TTGCCTTCAGCGGAACTGAGA	0.443																																						ENST00000416899.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						c.(55-57)agC>agA		muscle, skeletal, receptor tyrosine kinase							332.0	319.0	323.0					9																	113431241		1903	4124	6027	SO:0001583	missense	4593				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:113431241C>A	AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.57C>A	9.37:g.113431241C>A	ENSP00000363571:p.Ser19Arg					MUSK_ENST00000374440.3_5'UTR|MUSK_ENST00000189978.5_Missense_Mutation_p.S19R|MUSK_ENST00000374448.4_Missense_Mutation_p.S19R	p.S19R			O15146	MUSK_HUMAN			1	183	+			19					Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	ENST00000374448.4	37	c.57C>A	CCDS48005.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.475404	0.63737	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000416899	T	0.74106	-0.81	5.18	2.32	0.28847	.	0.058589	0.64402	D	0.000005	T	0.72542	0.3473	L	0.27053	0.805	0.80722	D	1	D;D	0.69078	0.997;0.992	P;P	0.60415	0.854;0.874	T	0.71567	-0.4554	10	0.72032	D	0.01	.	9.5892	0.39534	0.0:0.7676:0.0:0.2324	.	19;19	O15146;F5H6T2	MUSK_HUMAN;.	R	19	ENSP00000363571:S19R	ENSP00000189978:S19R	S	+	3	2	MUSK	112471062	0.964000	0.33143	1.000000	0.80357	0.815000	0.46073	0.504000	0.22626	0.206000	0.20587	0.557000	0.71058	AGC		0.443	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				46	147	46	147	---	---	---	---
DKK1	22943	broad.mit.edu	37	10	54074801	54074801	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr10:54074801G>A	ENST00000373970.3	+	2	501	c.362G>A	c.(361-363)tGc>tAc	p.C121Y	DKK1_ENST00000467359.1_3'UTR|PRKG1-AS1_ENST00000420193.1_RNA	NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN	dickkopf WNT signaling pathway inhibitor 1	121	DKK-type Cys-1.				cell morphogenesis involved in differentiation (GO:0000904)|embryonic limb morphogenesis (GO:0030326)|endoderm formation (GO:0001706)|extracellular negative regulation of signal transduction (GO:1900116)|face morphogenesis (GO:0060325)|forebrain development (GO:0030900)|hair follicle development (GO:0001942)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901296)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway (GO:0090082)|regulation of endodermal cell fate specification (GO:0042663)|regulation of receptor internalization (GO:0002090)|response to retinoic acid (GO:0032526)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)|low-density lipoprotein particle receptor binding (GO:0050750)|receptor antagonist activity (GO:0048019)|signal transducer activity (GO:0004871)			kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						CGAAAACGCTGCATGCGTCAC	0.572											OREG0020191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000373970.3																			0				kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						c.(361-363)tGc>tAc		dickkopf WNT signaling pathway inhibitor 1							49.0	45.0	46.0					10																	54074801		2203	4300	6503	SO:0001583	missense	22943				negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity	g.chr10:54074801G>A		CCDS7246.1	10q11.2	2013-05-15	2013-05-15		ENSG00000107984	ENSG00000107984			2891	protein-coding gene	gene with protein product		605189	"""dickkopf (Xenopus laevis) homolog 1"", ""dickkopf 1 homolog (Xenopus laevis)"""				Standard	NM_012242		Approved	SK, DKK-1	uc001jjr.3	O94907	OTTHUMG00000018247	ENST00000373970.3:c.362G>A	10.37:g.54074801G>A	ENSP00000363081:p.Cys121Tyr		OREG0020191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	997	DKK1_ENST00000467359.1_3'UTR	p.C121Y	NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN			2	501	+			121			DKK-type Cys-1.		B2RC19	Missense_Mutation	SNP	ENST00000373970.3	37	c.362G>A	CCDS7246.1	.	.	.	.	.	.	.	.	.	.	G	31	5.073844	0.94000	.	.	ENSG00000107984	ENST00000373970	T	0.75367	-0.93	5.63	5.63	0.86233	Dickkopf, N-terminal cysteine-rich (1);	0.000000	0.85682	D	0.000000	D	0.87947	0.6306	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89071	0.3469	10	0.87932	D	0	-3.4279	19.2694	0.94003	0.0:0.0:1.0:0.0	.	121	O94907	DKK1_HUMAN	Y	121	ENSP00000363081:C121Y	ENSP00000363081:C121Y	C	+	2	0	DKK1	53744807	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.373000	0.97168	2.639000	0.89480	0.650000	0.86243	TGC		0.572	DKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048100.1			6	34	6	34	---	---	---	---
KL	9365	broad.mit.edu	37	13	33635172	33635172	+	Silent	SNP	C	C	A			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr13:33635172C>A	ENST00000380099.3	+	4	1964	c.1956C>A	c.(1954-1956)gcC>gcA	p.A652A	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	652	Glycosyl hydrolase-1 2.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GCCTCCTGGCCAGGCAGGGCG	0.622																																						ENST00000380099.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41						c.(1954-1956)gcC>gcA		klotho							49.0	48.0	48.0					13																	33635172		2203	4300	6503	SO:0001819	synonymous_variant	9365				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	g.chr13:33635172C>A	AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.1956C>A	13.37:g.33635172C>A						KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_3'UTR	p.A652A	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)	4	1964	+	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)	652			Glycosyl hydrolase-1 2.		Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Silent	SNP	ENST00000380099.3	37	c.1956C>A	CCDS9347.1																																																																																				0.622	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1			10	48	10	48	---	---	---	---
CHAMP1	283489	broad.mit.edu	37	13	115089515	115089515	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr13:115089515A>T	ENST00000361283.1	+	3	507	c.198A>T	c.(196-198)aaA>aaT	p.K66N		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	CHAP1_HUMAN	chromosome alignment maintaining phosphoprotein 1	66					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|protein localization to kinetochore (GO:0034501)|protein localization to microtubule (GO:0035372)|sister chromatid biorientation (GO:0031134)	condensed chromosome (GO:0000793)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)										ACTGCCATAAATGCTTCTTCA	0.378																																						ENST00000361283.1																			0											c.(196-198)aaA>aaT		chromosome alignment maintaining phosphoprotein 1							92.0	86.0	88.0					13																	115089515		2203	4300	6503	SO:0001583	missense	283489				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding	g.chr13:115089515A>T	AK074894	CCDS9545.1	13q34	2013-01-07	2011-10-07	2011-10-07	ENSG00000198824	ENSG00000198824		"""Zinc fingers, C2H2-type"""	20311	protein-coding gene	gene with protein product	"""chromosome alignment-maintaining phosphoprotein"""		"""chromosome 13 open reading frame 8"", ""zinc finger protein 828"""	C13orf8, ZNF828		21063390	Standard	NM_032436		Approved	CAMP, CHAMP	uc010ahb.3	Q96JM3	OTTHUMG00000017404	ENST00000361283.1:c.198A>T	13.37:g.115089515A>T	ENSP00000354730:p.Lys66Asn						p.K66N	NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN			3	507	+			66					B3KU06|Q6P181|Q8NC88|Q9BST0	Missense_Mutation	SNP	ENST00000361283.1	37	c.198A>T	CCDS9545.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.160234	0.78226	.	.	ENSG00000198824	ENST00000361283	T	0.01464	4.86	5.96	0.286	0.15710	Zinc finger, C2H2-like (1);	0.000000	0.64402	D	0.000011	T	0.04048	0.0113	L	0.32530	0.975	0.35578	D	0.806014	D	0.89917	1.0	D	0.76575	0.988	T	0.49072	-0.8977	9	.	.	.	-12.9859	9.2279	0.37418	0.6339:0.0:0.3661:0.0	.	66	Q96JM3	ZN828_HUMAN	N	66	ENSP00000354730:K66N	.	K	+	3	2	ZNF828	114107617	0.999000	0.42202	0.997000	0.53966	0.998000	0.95712	0.528000	0.23002	-0.164000	0.10927	0.533000	0.62120	AAA		0.378	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045977.2	NM_032436		12	21	12	21	---	---	---	---
PDZD9	255762	broad.mit.edu	37	16	21995951	21995951	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr16:21995951A>T	ENST00000424898.2	-	4	494	c.432T>A	c.(430-432)gaT>gaA	p.D144E	PDZD9_ENST00000286143.6_Missense_Mutation_p.D82E|PDZD9_ENST00000537222.2_Missense_Mutation_p.D84E			Q8IXQ8	PDZD9_HUMAN	PDZ domain containing 9	144										breast(3)|endometrium(2)|lung(3)|pancreas(1)	9						TGAAAGATTCATCTTTTGCCA	0.338																																						ENST00000286143.6																			0				breast(3)|endometrium(2)|lung(3)|pancreas(1)	9						c.(244-246)gaT>gaA		PDZ domain containing 9							49.0	51.0	50.0					16																	21995951		2198	4299	6497	SO:0001583	missense	255762							g.chr16:21995951A>T	BC039562	CCDS10602.1, CCDS10602.2	16p12.1	2010-04-14	2010-04-14	2010-04-14	ENSG00000155714	ENSG00000155714			28740	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 65"""	C16orf65		12477932	Standard	NM_173806		Approved	MGC50721	uc021ter.1	Q8IXQ8	OTTHUMG00000131586	ENST00000424898.2:c.432T>A	16.37:g.21995951A>T	ENSP00000400514:p.Asp144Glu					PDZD9_ENST00000537222.2_Missense_Mutation_p.D84E|PDZD9_ENST00000424898.2_Missense_Mutation_p.D144E	p.D82E			Q8IXQ8	PDZD9_HUMAN			5	567	-			144			PDZ.		F5GWW8	Missense_Mutation	SNP	ENST00000424898.2	37	c.246T>A		.	.	.	.	.	.	.	.	.	.	A	6.184	0.402074	0.11696	.	.	ENSG00000155714	ENST00000424898;ENST00000537222;ENST00000286143;ENST00000521513	T	0.43294	0.95	4.73	-2.7	0.06004	.	0.775537	0.11884	N	0.520185	T	0.16727	0.0402	N	0.20401	0.57	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.27706	-1.0066	10	0.06757	T	0.87	-3.1613	1.0849	0.01650	0.3537:0.1639:0.3228:0.1596	.	82	Q8IXQ8-2	.	E	144;84;82;84	ENSP00000400514:D144E	ENSP00000286143:D82E	D	-	3	2	PDZD9	21903452	0.000000	0.05858	0.001000	0.08648	0.500000	0.33767	-1.522000	0.02237	-0.451000	0.07097	0.460000	0.39030	GAT		0.338	PDZD9-003	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000381652.1	NM_173806		7	36	7	36	---	---	---	---
DEF8	54849	broad.mit.edu	37	16	90027430	90027430	+	Silent	SNP	G	G	C			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr16:90027430G>C	ENST00000268676.7	+	7	878	c.789G>C	c.(787-789)ctG>ctC	p.L263L	DEF8_ENST00000570182.1_Silent_p.L192L|DEF8_ENST00000563848.1_3'UTR|DEF8_ENST00000563795.1_Silent_p.L202L|DEF8_ENST00000567874.1_Silent_p.L142L|DEF8_ENST00000569453.1_Silent_p.L202L|DEF8_ENST00000563594.1_Silent_p.L202L	NM_207514.2	NP_997397.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	263					intracellular signal transduction (GO:0035556)		zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		AATACGAACTGAACATCTGCC	0.577																																						ENST00000563594.1																			0				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						c.(604-606)ctG>ctC		differentially expressed in FDCP 8 homolog (mouse)							136.0	125.0	129.0					16																	90027430		2198	4300	6498	SO:0001819	synonymous_variant	54849				intracellular signal transduction		zinc ion binding	g.chr16:90027430G>C	AK131370	CCDS10989.1, CCDS45555.1, CCDS58493.1, CCDS58494.1, CCDS58495.1, CCDS58496.1	16q24.3	2011-01-31			ENSG00000140995	ENSG00000140995			25969	protein-coding gene	gene with protein product						12477932	Standard	NM_207514		Approved	FLJ20186	uc002fpn.2	Q6ZN54	OTTHUMG00000138989	ENST00000268676.7:c.789G>C	16.37:g.90027430G>C						DEF8_ENST00000567874.1_Silent_p.L142L|DEF8_ENST00000563848.1_3'UTR|DEF8_ENST00000563795.1_Silent_p.L202L|DEF8_ENST00000268676.7_Silent_p.L263L|DEF8_ENST00000570182.1_Silent_p.L192L|DEF8_ENST00000569453.1_Silent_p.L202L	p.L202L	NM_001242818.1|NM_001242819.1	NP_001229747.1|NP_001229748.1	Q6ZN54	DEFI8_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0274)	7	1603	+		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)	263					B3KT65|B4DK62|B4E0S9|B7Z3H6|H3BUG7|Q8N8N3|Q9NXL0	Silent	SNP	ENST00000268676.7	37	c.606G>C	CCDS10989.1																																																																																				0.577	DEF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000272878.1	NM_207514		43	104	43	104	---	---	---	---
C17orf85	55421	broad.mit.edu	37	17	3716470	3716470	+	Silent	SNP	C	C	T	rs374025988		TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr17:3716470C>T	ENST00000389005.4	-	13	1758	c.1731G>A	c.(1729-1731)ctG>ctA	p.L577L	C17orf85_ENST00000158149.3_Silent_p.L297L	NM_001114118.2	NP_001107590.1	Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	577							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		ATGCCCTTTGCAGCTCAGAGT	0.502																																						ENST00000158149.3																			0				endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10						c.(889-891)ctG>ctA		chromosome 17 open reading frame 85							145.0	144.0	144.0					17																	3716470		2203	4300	6503	SO:0001819	synonymous_variant	55421						nucleotide binding	g.chr17:3716470C>T		CCDS45578.1	17p13.2	2012-10-23			ENSG00000074356	ENSG00000074356			24612	protein-coding gene	gene with protein product	"""ELG protein"""					11412301	Standard	NM_001114118		Approved	HSA277841, ELG	uc010ckl.2	Q53F19	OTTHUMG00000177672	ENST00000389005.4:c.1731G>A	17.37:g.3716470C>T						C17orf85_ENST00000389005.4_Silent_p.L577L	p.L297L			Q53F19	CQ085_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)	14	1786	-			577					B3KWG7|Q7L406|Q96FK1|Q9NXZ4	Silent	SNP	ENST00000389005.4	37	c.891G>A	CCDS45578.1																																																																																				0.502	C17orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438385.1	NM_018553		4	126	4	126	---	---	---	---
TMEM132E	124842	broad.mit.edu	37	17	32961959	32961959	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr17:32961959C>G	ENST00000321639.5	+	8	1888	c.1560C>G	c.(1558-1560)gaC>gaG	p.D520E		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	520						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		AGGGCACTGACCAGGTGGTCA	0.632																																						ENST00000321639.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57						c.(1558-1560)gaC>gaG		transmembrane protein 132E							111.0	86.0	95.0					17																	32961959		2203	4300	6503	SO:0001583	missense	124842					integral to membrane		g.chr17:32961959C>G	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.1560C>G	17.37:g.32961959C>G	ENSP00000316532:p.Asp520Glu						p.D520E	NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	8	1888	+			520					Q8WUF4|Q8WVA5	Missense_Mutation	SNP	ENST00000321639.5	37	c.1560C>G	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.606309	0.46527	.	.	ENSG00000181291	ENST00000321639	T	0.17370	2.28	5.22	3.17	0.36434	.	0.343758	0.33772	N	0.004566	T	0.10937	0.0267	L	0.29908	0.895	0.47994	D	0.99956	B	0.06786	0.001	B	0.12156	0.007	T	0.12066	-1.0562	10	0.27785	T	0.31	-33.5046	6.9866	0.24731	0.1285:0.6748:0.1246:0.0722	.	520	Q6IEE7	T132E_HUMAN	E	520	ENSP00000316532:D520E	ENSP00000316532:D520E	D	+	3	2	TMEM132E	29986072	0.837000	0.29446	1.000000	0.80357	0.972000	0.66771	0.271000	0.18626	1.415000	0.47037	0.498000	0.49722	GAC		0.632	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		15	47	15	47	---	---	---	---
MPO	4353	broad.mit.edu	37	17	56348167	56348167	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr17:56348167C>A	ENST00000225275.3	-	12	2264	c.2088G>T	c.(2086-2088)caG>caT	p.Q696H	MPO_ENST00000340482.3_Missense_Mutation_p.Q728H	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	696					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	GCAATGAGATCTGGGCCAGGG	0.537																																						ENST00000340482.3																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46						c.(2182-2184)caG>caT		myeloperoxidase	Cefdinir(DB00535)						233.0	180.0	198.0					17																	56348167		2203	4300	6503	SO:0001583	missense	4353				anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	g.chr17:56348167C>A		CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.2088G>T	17.37:g.56348167C>A	ENSP00000225275:p.Gln696His					MPO_ENST00000225275.3_Missense_Mutation_p.Q696H	p.Q728H			P05164	PERM_HUMAN			11	2360	-			696					A1L4B8|Q14862|Q4PJH5|Q9UCL7	Missense_Mutation	SNP	ENST00000225275.3	37	c.2184G>T	CCDS11604.1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.373270	0.24857	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	T;T	0.73258	-0.73;-0.73	5.76	-0.713	0.11223	.	1.687060	0.02660	N	0.107367	T	0.59676	0.2211	L	0.43152	1.355	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.43750	-0.9372	10	0.62326	D	0.03	-4.3899	0.8487	0.01167	0.2487:0.3163:0.232:0.203	.	696	P05164	PERM_HUMAN	H	728;696	ENSP00000344419:Q728H;ENSP00000225275:Q696H	ENSP00000225275:Q696H	Q	-	3	2	MPO	53703166	0.000000	0.05858	0.212000	0.23672	0.768000	0.43524	-1.142000	0.03203	0.047000	0.15862	-0.176000	0.13171	CAG		0.537	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1			14	44	14	44	---	---	---	---
BRWD1	54014	broad.mit.edu	37	21	40596364	40596364	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr21:40596364G>A	ENST00000333229.2	-	29	3679	c.3352C>T	c.(3352-3354)Cca>Tca	p.P1118S	BRWD1_ENST00000342449.3_Missense_Mutation_p.P1118S|BRWD1_ENST00000380800.3_Missense_Mutation_p.P1118S	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1118					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ATGTCCCATGGGCTAAGTTTT	0.294																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000342449.3																			0				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58						c.(3352-3354)Cca>Tca		bromodomain and WD repeat domain containing 1							81.0	86.0	84.0					21																	40596364		2202	4294	6496	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40596364G>A	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.3352C>T	21.37:g.40596364G>A	ENSP00000330753:p.Pro1118Ser					BRWD1_ENST00000380800.3_Missense_Mutation_p.P1118S|BRWD1_ENST00000333229.2_Missense_Mutation_p.P1118S	p.P1118S	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN			29	3430	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	1118					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.3352C>T	CCDS13662.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.5|20.5	3.995069|3.995069	0.74703|0.74703	.|.	.|.	ENSG00000185658|ENSG00000185658	ENST00000424441|ENST00000333229;ENST00000342449;ENST00000380800;ENST00000380783	.|T;T;T	.|0.50813	.|0.73;0.73;0.73	4.95|4.95	4.95|4.95	0.65309|0.65309	.|.	0.170328|0.170328	0.41097|0.41097	D|D	0.000944|0.000944	T|T	0.76248|0.76248	0.3961|0.3961	M|M	0.91717|0.91717	3.235|3.235	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;0.998;0.997	T|T	0.82647|0.82647	-0.0354|-0.0354	6|10	.|0.87932	.|D	.|0	-6.6714|-6.6714	18.5638|18.5638	0.91110|0.91110	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1118;1118;1118	.|Q9NSI6-3;Q9NSI6-2;Q9NSI6	.|.;.;BRWD1_HUMAN	L|S	103|1118;1118;1118;122	.|ENSP00000330753:P1118S;ENSP00000344333:P1118S;ENSP00000370178:P1118S	.|ENSP00000330753:P1118S	P|P	-|-	2|1	0|0	BRWD1|BRWD1	39518234|39518234	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.542000|0.542000	0.35054|0.35054	9.055000|9.055000	0.93873|0.93873	2.467000|2.467000	0.83353|0.83353	0.585000|0.585000	0.79938|0.79938	CCC|CCA		0.294	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		33	53	33	53	---	---	---	---
TCEAL6	158931	broad.mit.edu	37	X	101396002	101396002	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chrX:101396002G>A	ENST00000372774.3	-	3	551	c.302C>T	c.(301-303)cCg>cTg	p.P101L	TCEAL6_ENST00000372773.1_Missense_Mutation_p.P101L	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	101					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.P101L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						ATCTCCAGCCGGGCGCTTTTC	0.612																																						ENST00000372774.3																			1	Substitution - Missense(1)	p.P101L(1)	lung(1)	central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						c.(301-303)cCg>cTg		transcription elongation factor A (SII)-like 6							81.0	86.0	84.0					X																	101396002		2202	4298	6500	SO:0001583	missense	158931				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:101396002G>A	BC071675	CCDS43978.1	Xq22.1	2014-03-21			ENSG00000204071	ENSG00000204071			24553	protein-coding gene	gene with protein product						16221301	Standard	NM_001006938		Approved	WEX2	uc004eiq.3	Q6IPX3	OTTHUMG00000022050	ENST00000372774.3:c.302C>T	X.37:g.101396002G>A	ENSP00000361860:p.Pro101Leu					TCEAL6_ENST00000372773.1_Missense_Mutation_p.P101L	p.P101L	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN			3	551	-			101					Q5H9J8	Missense_Mutation	SNP	ENST00000372774.3	37	c.302C>T	CCDS43978.1	.	.	.	.	.	.	.	.	.	.	G	8.396	0.840742	0.16891	.	.	ENSG00000204071	ENST00000372774;ENST00000372773;ENST00000536102	T;T	0.12465	2.68;2.68	2.75	0.892	0.19230	.	0.000000	0.36268	N	0.002695	T	0.11665	0.0284	M	0.74258	2.255	0.18873	N	0.999988	B	0.33448	0.412	B	0.23018	0.043	T	0.23511	-1.0186	10	0.72032	D	0.01	.	2.7702	0.05332	0.1646:0.0:0.5578:0.2776	.	101	Q6IPX3-2	.	L	101	ENSP00000361860:P101L;ENSP00000361859:P101L	ENSP00000361859:P101L	P	-	2	0	TCEAL6	101282658	0.455000	0.25736	0.037000	0.18230	0.645000	0.38454	0.413000	0.21148	0.107000	0.17824	0.468000	0.43344	CCG		0.612	TCEAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057609.1	NM_001006938		16	79	16	79	---	---	---	---
MBNL3	55796	broad.mit.edu	37	X	131516262	131516262	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chrX:131516262C>A	ENST00000370853.3	-	7	1075	c.997G>T	c.(997-999)Gca>Tca	p.A333S	MBNL3_ENST00000394311.2_Missense_Mutation_p.A237S|RAP2C-AS1_ENST00000441399.2_RNA|MBNL3_ENST00000370857.3_Missense_Mutation_p.A321S|RAP2C-AS1_ENST00000421483.2_RNA|MBNL3_ENST00000370849.3_Missense_Mutation_p.A283S|MBNL3_ENST00000370839.3_Missense_Mutation_p.A298S|MBNL3_ENST00000370844.1_Missense_Mutation_p.A237S|MBNL3_ENST00000538204.1_Missense_Mutation_p.A271S	NM_018388.3	NP_060858.2	Q9NUK0	MBNL3_HUMAN	muscleblind-like splicing regulator 3	333					mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|negative regulation of myoblast differentiation (GO:0045662)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16	Acute lymphoblastic leukemia(192;0.000127)					GTTGTTGCTGCAGACACAGTG	0.468																																						ENST00000538204.1																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16						c.(811-813)Gca>Tca		muscleblind-like splicing regulator 3							212.0	179.0	190.0					X																	131516262		2203	4300	6503	SO:0001583	missense	55796				mRNA processing|multicellular organismal development|regulation of RNA splicing|RNA splicing	Golgi apparatus|nucleus	nucleic acid binding|zinc ion binding	g.chrX:131516262C>A	AF491305	CCDS14633.1, CCDS14634.1, CCDS55492.1, CCDS55493.1, CCDS55494.1	Xq26.2	2013-01-18	2012-02-23		ENSG00000076770	ENSG00000076770		"""Zinc fingers, CCCH-type domain containing"""	20564	protein-coding gene	gene with protein product		300413	"""muscleblind-like 3 (Drosophila)"""			12297108, 10970838	Standard	NM_018388		Approved	CHCR, FLJ11316, MBLX39, MBXL	uc004ewv.4	Q9NUK0	OTTHUMG00000022426	ENST00000370853.3:c.997G>T	X.37:g.131516262C>A	ENSP00000359890:p.Ala333Ser					RAP2C-AS1_ENST00000441399.2_RNA|RAP2C-AS1_ENST00000421483.2_RNA|MBNL3_ENST00000370849.3_Missense_Mutation_p.A283S|MBNL3_ENST00000370857.3_Missense_Mutation_p.A321S|MBNL3_ENST00000370839.3_Missense_Mutation_p.A298S|MBNL3_ENST00000370844.1_Missense_Mutation_p.A237S|MBNL3_ENST00000370853.3_Missense_Mutation_p.A333S|MBNL3_ENST00000394311.2_Missense_Mutation_p.A237S	p.A271S	NM_001170702.1	NP_001164173.1	Q9NUK0	MBNL3_HUMAN			6	876	-	Acute lymphoblastic leukemia(192;0.000127)		333					Q5JXN8|Q5JXN9|Q5JXP4|Q6UDQ1|Q8IUR4|Q8TAD9|Q8TAF4|Q9H0Z7|Q9UF37	Missense_Mutation	SNP	ENST00000370853.3	37	c.811G>T	CCDS14633.1	.	.	.	.	.	.	.	.	.	.	C	19.36	3.812839	0.70912	.	.	ENSG00000076770	ENST00000394311;ENST00000538204;ENST00000370857;ENST00000370853;ENST00000370849;ENST00000370839;ENST00000370844;ENST00000442191;ENST00000436215	T;T;T	0.54071	0.77;0.63;0.59	5.97	5.1	0.69264	.	0.080608	0.52532	D	0.000079	T	0.66992	0.2846	L	0.58669	1.825	0.34857	D	0.742197	B;B;D;B;B	0.69078	0.047;0.027;0.997;0.047;0.211	B;B;D;B;B	0.77557	0.056;0.056;0.99;0.056;0.081	T	0.72290	-0.4337	10	0.23891	T	0.37	-4.8556	14.7487	0.69508	0.0:0.9286:0.0:0.0714	.	271;333;298;283;237	Q9NUK0-4;Q9NUK0;Q9NUK0-2;Q9NUK0-3;Q8IUR4	.;MBNL3_HUMAN;.;.;.	S	237;271;321;333;283;298;237;114;237	ENSP00000359894:A321S;ENSP00000359890:A333S;ENSP00000359876:A298S	ENSP00000359876:A298S	A	-	1	0	MBNL3	131343943	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.824000	0.48088	1.253000	0.44018	0.600000	0.82982	GCA		0.468	MBNL3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058319.1	NM_018388		44	30	44	30	---	---	---	---
NTRK1	4914	broad.mit.edu	37	1	156849931	156849936	+	In_Frame_Del	DEL	CCAGCT	CCAGCT	-	rs557254719		TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr1:156849931_156849936delCCAGCT	ENST00000524377.1	+	16	2228_2233	c.2187_2192delCCAGCT	c.(2185-2193)taccagctc>tac	p.QL730del	NTRK1_ENST00000531606.1_3'UTR|NTRK1_ENST00000392302.2_In_Frame_Del_p.QL694del|NTRK1_ENST00000358660.3_In_Frame_Del_p.QL727del|NTRK1_ENST00000368196.3_In_Frame_Del_p.QL724del	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	730	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	AGCCCTGGTACCAGCTCTCCAACACG	0.621			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)																												ENST00000368196.3				Dom	yes		1	1q21-q22	4914	T	"""neurotrophic tyrosine kinase, receptor, type 1"""			E	"""TPM3, TPR, TFG"""		papillary thyroid		0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74						c.(2167-2175)taccagctc>tac		neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)																																			SO:0001651	inframe_deletion	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156849931_156849936delCCAGCT	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.2187_2192delCCAGCT	1.37:g.156849931_156849936delCCAGCT	ENSP00000431418:p.Gln730_Leu731del	TSP Lung(10;0.080)				NTRK1_ENST00000531606.1_3'UTR|NTRK1_ENST00000524377.1_In_Frame_Del_p.QL730del|NTRK1_ENST00000392302.2_In_Frame_Del_p.QL694del|NTRK1_ENST00000358660.3_In_Frame_Del_p.QL727del	p.QL724del	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN			15	2289_2294	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		730			Protein kinase.		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	In_Frame_Del	DEL	ENST00000524377.1	37	c.2169_2174delCCAGCT	CCDS1161.1																																																																																				0.621	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		14	82	14	82	---	---	---	---
MBD1	4152	broad.mit.edu	37	18	47806261	47806262	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr18:47806261_47806262delAT	ENST00000591416.1	-	2	532_533	c.101_102delAT	c.(100-102)tatfs	p.Y35fs	MBD1_ENST00000591535.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000349085.2_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000339998.6_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000353909.3_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000269468.5_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000587605.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000382948.5_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000347968.3_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000457839.2_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000585595.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000398488.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000588937.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000436910.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000398493.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000424334.2_Frame_Shift_Del_p.Y61fs|MBD1_ENST00000590208.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000398495.2_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000269471.5_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000585672.1_Frame_Shift_Del_p.Y35fs			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	35	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						ACCTCTGGTAATAGGTGTCTGA	0.554																																						ENST00000591416.1																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(100-102)tatfs		methyl-CpG binding domain protein 1																																				SO:0001589	frameshift_variant	4152				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr18:47806261_47806262delAT	Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.101_102delAT	18.37:g.47806261_47806262delAT	ENSP00000467017:p.Tyr35fs					MBD1_ENST00000398495.2_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000424334.2_Frame_Shift_Del_p.Y61fs|MBD1_ENST00000436910.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000269468.5_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000398493.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000588937.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000590208.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000587605.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000585672.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000591535.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000349085.2_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000382948.5_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000457839.2_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000339998.6_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000269471.5_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000585595.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000347968.3_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000398488.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000353909.3_Frame_Shift_Del_p.Y35fs	p.Y35fs			Q9UIS9	MBD1_HUMAN			2	532_533	-			35			MBD.		A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Frame_Shift_Del	DEL	ENST00000591416.1	37	c.101_102delAT	CCDS11943.1																																																																																				0.554	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255926.3	NM_015846		26	32	26	32	---	---	---	---
