#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
MACF1	23499	broad.mit.edu	37	1	39750842	39750842	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr1:39750842A>T	ENST00000372915.3	+	11	1321	c.1234A>T	c.(1234-1236)Atg>Ttg	p.M412L	MACF1_ENST00000564288.1_Missense_Mutation_p.M407L|MACF1_ENST00000539005.1_Missense_Mutation_p.M412L|MACF1_ENST00000545844.1_Missense_Mutation_p.M412L|MACF1_ENST00000317713.7_Missense_Mutation_p.M412L|MACF1_ENST00000361689.2_Missense_Mutation_p.M412L|MACF1_ENST00000567887.1_Missense_Mutation_p.M444L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	412					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CATCATAGAGATGCTGGAACG	0.473																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(1219-1221)Atg>Ttg		microtubule-actin crosslinking factor 1							157.0	154.0	155.0					1																	39750842		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39750842A>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.1234A>T	1.37:g.39750842A>T	ENSP00000362006:p.Met412Leu					MACF1_ENST00000372915.3_Missense_Mutation_p.M412L|MACF1_ENST00000539005.1_Missense_Mutation_p.M412L|MACF1_ENST00000317713.7_Missense_Mutation_p.M412L|MACF1_ENST00000545844.1_Missense_Mutation_p.M412L|MACF1_ENST00000361689.2_Missense_Mutation_p.M412L|MACF1_ENST00000567887.1_Missense_Mutation_p.M444L	p.M407L			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		12	1996	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	412					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.1219A>T		.	.	.	.	.	.	.	.	.	.	A	19.05	3.751208	0.69533	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000530262;ENST00000372900	T;T;T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19	5.82	5.82	0.92795	.	.	.	.	.	T	0.64571	0.2610	M	0.80422	2.495	0.80722	D	1	B;B	0.28880	0.001;0.226	B;B	0.29524	0.001;0.103	T	0.62450	-0.6852	9	0.17832	T	0.49	.	16.1814	0.81903	1.0:0.0:0.0:0.0	.	412;377	F8W8Q1;Q9UPN3-3	.;.	L	412;412;412;412;412;370;561;572	ENSP00000439537:M412L;ENSP00000362006:M412L;ENSP00000354573:M412L;ENSP00000313438:M412L;ENSP00000444364:M412L;ENSP00000435070:M370L;ENSP00000437059:M561L	ENSP00000313438:M412L	M	+	1	0	MACF1	39523429	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.339000	0.96797	2.234000	0.73211	0.533000	0.62120	ATG		0.473	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		26	82	26	82	---	---	---	---
USP33	23032	broad.mit.edu	37	1	78187835	78187835	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr1:78187835G>T	ENST00000370793.1	-	14	1875	c.1529C>A	c.(1528-1530)cCt>cAt	p.P510H	USP33_ENST00000370794.3_Missense_Mutation_p.P479H|USP33_ENST00000357428.1_Missense_Mutation_p.P510H|USP33_ENST00000370792.3_Missense_Mutation_p.P510H	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	510	USP.				axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						TTCCTTGCCAGGAATTGGCAA	0.408																																					Melanoma(152;72 1870 11110 26780 42647)	ENST00000370793.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						c.(1528-1530)cCt>cAt		ubiquitin specific peptidase 33							103.0	100.0	101.0					1																	78187835		2203	4300	6503	SO:0001583	missense	23032				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr1:78187835G>T	AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"""Ubiquitin-specific peptidases"""	20059	protein-coding gene	gene with protein product		615146	"""ubiquitin specific protease 33"""			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.1529C>A	1.37:g.78187835G>T	ENSP00000359829:p.Pro510His					USP33_ENST00000370792.3_Missense_Mutation_p.P510H|USP33_ENST00000370794.3_Missense_Mutation_p.P479H|USP33_ENST00000357428.1_Missense_Mutation_p.P510H	p.P510H	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN			14	1875	-			510					Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Missense_Mutation	SNP	ENST00000370793.1	37	c.1529C>A	CCDS678.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.5|24.5	4.538009|4.538009	0.85917|0.85917	.|.	.|.	ENSG00000077254|ENSG00000077254	ENST00000481579|ENST00000370794;ENST00000370793;ENST00000357428;ENST00000370792	.|T;T;T;T	.|0.38077	.|3.85;1.16;1.16;3.85	5.0|5.0	5.0|5.0	0.66597|0.66597	.|Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.55784|0.55784	0.1942|0.1942	M|M	0.75447|0.75447	2.3|2.3	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.998;0.998;0.999	T|T	0.59958|0.59958	-0.7356|-0.7356	5|10	.|0.62326	.|D	.|0.03	.|.	18.6877|18.6877	0.91571|0.91571	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|510;479;510	.|Q8TEY7-3;Q8TEY7-2;Q8TEY7	.|.;.;UBP33_HUMAN	M|H	115|479;510;510;510	.|ENSP00000359830:P479H;ENSP00000359829:P510H;ENSP00000350009:P510H;ENSP00000359828:P510H	.|ENSP00000350009:P510H	L|P	-|-	1|2	2|0	USP33|USP33	77960423|77960423	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.476000|9.476000	0.97823|0.97823	2.494000|2.494000	0.84150|0.84150	0.467000|0.467000	0.42956|0.42956	CTG|CCT		0.408	USP33-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026923.2	NM_015017		6	92	6	92	---	---	---	---
ALK	238	broad.mit.edu	37	2	29498076	29498076	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr2:29498076T>C	ENST00000389048.3	-	11	2836	c.1930A>G	c.(1930-1932)Atc>Gtc	p.I644V	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	644					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	TTCTGCAGGATCTTGTCCTCT	0.498			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000389048.3			yes	Dom	yes	Familial neuroblastoma	2	2p23	238	"""T, Mis, A"""	anaplastic lymphoma kinase (Ki-1)			"""L, E, M"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	neuroblastoma	"""ALCL, NSCLC, Neuroblastoma"""	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	0				NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340						c.(1930-1932)Atc>Gtc		anaplastic lymphoma receptor tyrosine kinase	Adenosine triphosphate(DB00171)						90.0	90.0	90.0					2																	29498076		2203	4300	6503	SO:0001583	missense	238	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:29498076T>C	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.1930A>G	2.37:g.29498076T>C	ENSP00000373700:p.Ile644Val					ALK_ENST00000431873.1_Intron	p.I644V	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN			11	2836	-	Acute lymphoblastic leukemia(172;0.155)		644					Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	c.1930A>G	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	T	1.398	-0.579027	0.03854	.	.	ENSG00000171094	ENST00000389048	T	0.76316	-1.01	4.97	-4.02	0.04034	.	0.726416	0.12099	N	0.499632	T	0.58750	0.2144	L	0.40543	1.245	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40459	-0.9562	9	.	.	.	.	1.7268	0.02923	0.1384:0.3326:0.1427:0.3863	.	644	Q9UM73	ALK_HUMAN	V	644	ENSP00000373700:I644V	.	I	-	1	0	ALK	29351580	0.000000	0.05858	0.006000	0.13384	0.033000	0.12548	-1.210000	0.02999	-1.091000	0.03065	-0.379000	0.06801	ATC		0.498	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		11	52	11	52	---	---	---	---
LPHN3	23284	broad.mit.edu	37	4	62800613	62800613	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr4:62800613G>A	ENST00000514591.1	+	13	2293	c.1964G>A	c.(1963-1965)aGa>aAa	p.R655K	LPHN3_ENST00000508693.1_Missense_Mutation_p.R723K|LPHN3_ENST00000507625.1_Missense_Mutation_p.R723K|LPHN3_ENST00000511324.1_Missense_Mutation_p.R723K|LPHN3_ENST00000506700.1_Missense_Mutation_p.R655K|LPHN3_ENST00000545650.1_Missense_Mutation_p.R655K|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000514996.1_Missense_Mutation_p.R655K|LPHN3_ENST00000508946.1_Missense_Mutation_p.R655K|LPHN3_ENST00000504896.1_Missense_Mutation_p.R655K|LPHN3_ENST00000509896.1_Missense_Mutation_p.R723K|LPHN3_ENST00000506720.1_Missense_Mutation_p.R723K|LPHN3_ENST00000512091.2_Missense_Mutation_p.R655K|LPHN3_ENST00000506746.1_Missense_Mutation_p.R723K|LPHN3_ENST00000514157.1_Missense_Mutation_p.R655K|LPHN3_ENST00000507164.1_Missense_Mutation_p.R723K			Q9HAR2	LPHN3_HUMAN	latrophilin 3	642					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						AATGCATGGAGAGACCTGACT	0.483																																						ENST00000512091.2																			0				breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						c.(1963-1965)aGa>aAa		latrophilin 3							87.0	92.0	90.0					4																	62800613		2079	4219	6298	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62800613G>A	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.1964G>A	4.37:g.62800613G>A	ENSP00000422533:p.Arg655Lys					LPHN3_ENST00000511324.1_Missense_Mutation_p.R723K|LPHN3_ENST00000506746.1_Missense_Mutation_p.R723K|LPHN3_ENST00000504896.1_Missense_Mutation_p.R655K|LPHN3_ENST00000508946.1_Missense_Mutation_p.R655K|LPHN3_ENST00000508693.1_Missense_Mutation_p.R723K|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000509896.1_Missense_Mutation_p.R723K|LPHN3_ENST00000506700.1_Missense_Mutation_p.R655K|LPHN3_ENST00000514591.1_Missense_Mutation_p.R655K|LPHN3_ENST00000545650.1_Missense_Mutation_p.R655K|LPHN3_ENST00000507164.1_Missense_Mutation_p.R723K|LPHN3_ENST00000514996.1_Missense_Mutation_p.R655K|LPHN3_ENST00000514157.1_Missense_Mutation_p.R655K|LPHN3_ENST00000506720.1_Missense_Mutation_p.R723K|LPHN3_ENST00000507625.1_Missense_Mutation_p.R723K	p.R655K			Q9HAR2	LPHN3_HUMAN			13	2711	+								E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.1964G>A	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	G	8.931	0.963424	0.18583	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.09538	2.97;2.97;2.97;2.97;2.97;2.97;2.97;2.97;2.97;2.97;2.97;2.97;2.97;2.97;2.97	5.43	4.58	0.56647	Domain of unknown function DUF3497 (1);	0.139364	0.64402	N	0.000005	T	0.09512	0.0234	L	0.38531	1.155	0.47778	D	0.999514	P;P;P	0.38617	0.64;0.64;0.587	B;B;B	0.40602	0.334;0.334;0.225	T	0.02868	-1.1100	10	0.02654	T	1	.	14.1765	0.65544	0.0714:0.0:0.9286:0.0	.	655;642;655	E9PE04;Q9HAR2;Q9HAR2-2	.;LPHN3_HUMAN;.	K	655;655;723;723;655;642;655;642;655;723;723;723;655;655;655;723;723;655	ENSP00000423388:R655K;ENSP00000422533:R655K;ENSP00000423787:R723K;ENSP00000425033:R723K;ENSP00000424120:R655K;ENSP00000439831:R655K;ENSP00000421476:R723K;ENSP00000424030:R723K;ENSP00000421372:R723K;ENSP00000425201:R655K;ENSP00000423434:R655K;ENSP00000421627:R655K;ENSP00000420931:R723K;ENSP00000425884:R723K;ENSP00000424258:R655K	ENSP00000280009:R655K	R	+	2	0	LPHN3	62483208	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	4.748000	0.62148	1.518000	0.48934	0.650000	0.86243	AGA		0.483	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			5	35	5	35	---	---	---	---
AADAT	51166	broad.mit.edu	37	4	170988533	170988533	+	Missense_Mutation	SNP	T	T	C	rs368676033		TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr4:170988533T>C	ENST00000337664.4	-	9	1183	c.907A>G	c.(907-909)Ata>Gta	p.I303V	AADAT_ENST00000509167.1_Missense_Mutation_p.I307V|AADAT_ENST00000353187.2_Missense_Mutation_p.I303V|AADAT_ENST00000515480.1_Missense_Mutation_p.I303V	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN	aminoadipate aminotransferase	303					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|kynurenine metabolic process (GO:0070189)|L-kynurenine metabolic process (GO:0097052)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	mitochondrial matrix (GO:0005759)	2-aminoadipate transaminase activity (GO:0047536)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)		AGCTGTGATATCATGAGCTAA	0.333																																						ENST00000337664.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11						c.(907-909)Ata>Gta		aminoadipate aminotransferase	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						80.0	78.0	79.0					4																	170988533		2203	4300	6503	SO:0001583	missense	51166				2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process	mitochondrial matrix	2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity	g.chr4:170988533T>C	AF097994	CCDS3814.1, CCDS75209.1	4q33	2010-12-09			ENSG00000109576	ENSG00000109576	2.6.1.39		17929	protein-coding gene	gene with protein product	"""kynurenine aminotransferase II"", ""L kynurenine/alpha aminoadipate aminotransferase"""	611754				12126930, 10441733	Standard	NM_182662		Approved	KATII, KAT2	uc003isr.3	Q8N5Z0	OTTHUMG00000160912	ENST00000337664.4:c.907A>G	4.37:g.170988533T>C	ENSP00000336808:p.Ile303Val					AADAT_ENST00000509167.1_Missense_Mutation_p.I307V|AADAT_ENST00000353187.2_Missense_Mutation_p.I303V|AADAT_ENST00000515480.1_Missense_Mutation_p.I303V	p.I303V	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)	9	1183	-		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)	303					B3KP84|Q9UL02	Missense_Mutation	SNP	ENST00000337664.4	37	c.907A>G	CCDS3814.1	.	.	.	.	.	.	.	.	.	.	T	1.656	-0.512739	0.04200	.	.	ENSG00000109576	ENST00000337664;ENST00000515480;ENST00000509167;ENST00000353187	D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45	5.8	-3.64	0.04515	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.321314	0.36703	N	0.002444	T	0.70263	0.3204	N	0.04820	-0.15	0.21802	N	0.99953	B;B	0.02656	0.0;0.0	B;B	0.09377	0.003;0.004	T	0.57940	-0.7724	10	0.02654	T	1	-9.224	15.3238	0.74144	0.0:0.2187:0.0:0.7813	.	307;303	Q8N5Z0-2;Q8N5Z0	.;AADAT_HUMAN	V	303;303;307;303	ENSP00000336808:I303V;ENSP00000423341:I303V;ENSP00000423190:I307V;ENSP00000226840:I303V	ENSP00000336808:I303V	I	-	1	0	AADAT	171225108	0.061000	0.20836	0.003000	0.11579	0.239000	0.25481	-0.444000	0.06854	-0.550000	0.06183	0.460000	0.39030	ATA		0.333	AADAT-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362952.1	NM_016228		14	35	14	35	---	---	---	---
RBM27	54439	broad.mit.edu	37	5	145641086	145641086	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr5:145641086G>T	ENST00000265271.5	+	13	2073	c.1907G>T	c.(1906-1908)gGt>gTt	p.G636V	RBM27_ENST00000506502.1_Missense_Mutation_p.G581V	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	636	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTTTTAAGGGTGACCCAGAA	0.368																																						ENST00000265271.5																			0				NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(1906-1908)gGt>gTt		RNA binding motif protein 27							84.0	76.0	79.0					5																	145641086		1568	3582	5150	SO:0001583	missense	54439				mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	g.chr5:145641086G>T	AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	29243	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 1"""					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.1907G>T	5.37:g.145641086G>T	ENSP00000265271:p.Gly636Val					RBM27_ENST00000506502.1_Missense_Mutation_p.G581V	p.G636V	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		13	2073	+			636			RRM.		Q8IYW9	Missense_Mutation	SNP	ENST00000265271.5	37	c.1907G>T	CCDS43378.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.166200	0.78339	.	.	ENSG00000091009	ENST00000265271	T	0.52526	0.66	5.5	5.5	0.81552	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.147962	0.46758	D	0.000279	T	0.63988	0.2558	M	0.72894	2.215	0.80722	D	1	D;D	0.63046	0.992;0.992	D;D	0.67548	0.952;0.952	T	0.65693	-0.6106	10	0.56958	D	0.05	-14.8224	10.5156	0.44887	0.1179:0.0:0.8821:0.0	.	636;581	Q9P2N5;B3KY61	RBM27_HUMAN;.	V	636	ENSP00000265271:G636V	ENSP00000265271:G636V	G	+	2	0	RBM27	145621279	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.256000	0.78350	2.593000	0.87608	0.561000	0.74099	GGT		0.368	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	XM_291128		4	65	4	65	---	---	---	---
RPL10A	4736	broad.mit.edu	37	6	35437258	35437258	+	Nonsense_Mutation	SNP	G	G	T	rs11266793		TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr6:35437258G>T	ENST00000322203.6	+	4	289	c.262G>T	c.(262-264)Gag>Tag	p.E88*	RPL10A_ENST00000467020.1_3'UTR	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN	ribosomal protein L10a	88					anatomical structure morphogenesis (GO:0009653)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|large_intestine(2)|ovary(1)	4						CATGGACATCGAGGCGCTGAA	0.552																																						ENST00000322203.6																			0				breast(1)|large_intestine(2)|ovary(1)	4						c.(262-264)Gag>Tag		ribosomal protein L10a							45.0	46.0	46.0					6																	35437258		2203	4300	6503	SO:0001587	stop_gained	4736				anatomical structure morphogenesis|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	RNA binding|structural constituent of ribosome	g.chr6:35437258G>T	U12404	CCDS4806.1	6p21.31	2011-04-06			ENSG00000198755	ENSG00000198755		"""L ribosomal proteins"""	10299	protein-coding gene	gene with protein product		615660		NEDD6		7609734, 9647638	Standard	NM_007104		Approved	Csa-19, L10A	uc003okp.1	P62906	OTTHUMG00000014566	ENST00000322203.6:c.262G>T	6.37:g.35437258G>T	ENSP00000363018:p.Glu88*					RPL10A_ENST00000467020.1_3'UTR	p.E88*	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN			4	289	+			88					B2R801|P52859|P53025|Q5TZT6|Q8J013	Nonsense_Mutation	SNP	ENST00000322203.6	37	c.262G>T	CCDS4806.1	.	.	.	.	.	.	.	.	.	.	G	34	5.412615	0.96072	.	.	ENSG00000198755	ENST00000322203	.	.	.	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	16.623	0.84934	0.0:0.0:1.0:0.0	rs11266793	.	.	.	X	88	.	ENSP00000363018:E88X	E	+	1	0	RPL10A	35545236	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.791000	0.99081	2.255000	0.74692	0.455000	0.32223	GAG		0.552	RPL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040283.1	NM_007104		9	22	9	22	---	---	---	---
PHF14	9678	broad.mit.edu	37	7	11075358	11075358	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr7:11075358C>T	ENST00000403050.3	+	8	1999	c.1547C>T	c.(1546-1548)tCc>tTc	p.S516F	PHF14_ENST00000445996.2_Missense_Mutation_p.S231F	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	516					lung alveolus development (GO:0048286)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		GCTCTACAGTCCTATTGTAAA	0.368																																						ENST00000403050.3																			0				NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35						c.(1546-1548)tCc>tTc		PHD finger protein 14							186.0	183.0	184.0					7																	11075358		1861	4103	5964	SO:0001583	missense	9678						zinc ion binding	g.chr7:11075358C>T	AB018326	CCDS47542.1	7p21.3	2013-01-28			ENSG00000106443	ENSG00000106443		"""Zinc fingers, PHD-type"""	22203	protein-coding gene	gene with protein product						9872452	Standard	NM_014660		Approved	KIAA0783	uc003sry.2	O94880	OTTHUMG00000150463	ENST00000403050.3:c.1547C>T	7.37:g.11075358C>T	ENSP00000385795:p.Ser516Phe					PHF14_ENST00000445996.2_Missense_Mutation_p.S231F	p.S516F	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.205)	8	1999	+			516					A7MCZ3|B4DI82	Missense_Mutation	SNP	ENST00000403050.3	37	c.1547C>T	CCDS47542.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.211509	0.58343	.	.	ENSG00000106443	ENST00000403050;ENST00000445996	T;T	0.71579	-0.22;-0.58	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.76615	0.4012	N	0.19112	0.55	0.80722	D	1	D;D;D;D	0.71674	0.994;0.99;0.998;0.998	D;D;D;D	0.78314	0.989;0.974;0.991;0.991	T	0.77872	-0.2426	10	0.54805	T	0.06	.	20.4581	0.99154	0.0:1.0:0.0:0.0	.	231;231;516;516	O94880-2;B4DG57;A8MSQ1;O94880	.;.;.;PHF14_HUMAN	F	516;231	ENSP00000385795:S516F;ENSP00000403907:S231F	ENSP00000385795:S516F	S	+	2	0	PHF14	11041883	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.800000	0.85949	2.835000	0.97688	0.650000	0.86243	TCC		0.368	PHF14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318212.1	NM_014660		37	135	37	135	---	---	---	---
MTMR6	9107	broad.mit.edu	37	13	25848214	25848214	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr13:25848214T>C	ENST00000381801.5	-	2	897	c.136A>G	c.(136-138)Acc>Gcc	p.T46A	MTMR6_ENST00000540661.1_Missense_Mutation_p.T46A	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	46					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|potassium ion transmembrane transport (GO:0071805)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	calcium-activated potassium channel activity (GO:0015269)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		CTTACCCAGGTTTCTTTTTGA	0.338																																						ENST00000381801.5																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36						c.(136-138)Acc>Gcc		myotubularin related protein 6							122.0	121.0	122.0					13																	25848214		2203	4300	6503	SO:0001583	missense	9107					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr13:25848214T>C	AF072928	CCDS9313.1	13q12	2011-06-09			ENSG00000139505	ENSG00000139505		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7453	protein-coding gene	gene with protein product		603561				9736772	Standard	NM_004685		Approved		uc001uqf.4	Q9Y217	OTTHUMG00000016606	ENST00000381801.5:c.136A>G	13.37:g.25848214T>C	ENSP00000371221:p.Thr46Ala					MTMR6_ENST00000540661.1_Missense_Mutation_p.T46A	p.T46A	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)	2	897	-		Lung SC(185;0.0225)|Breast(139;0.0351)	46					B2RBB5|B3KSB4|Q5JRG6|Q86TB7|Q86YH4|Q96P80	Missense_Mutation	SNP	ENST00000381801.5	37	c.136A>G	CCDS9313.1	.	.	.	.	.	.	.	.	.	.	T	13.05	2.121574	0.37436	.	.	ENSG00000139505	ENST00000540661;ENST00000541021;ENST00000381801	D;D	0.82081	-1.57;-1.57	5.17	5.17	0.71159	Pleckstrin homology-type (1);	0.051129	0.85682	D	0.000000	D	0.84316	0.5445	M	0.85630	2.765	0.80722	D	1	B;B	0.12013	0.003;0.005	B;B	0.18561	0.021;0.022	T	0.81174	-0.1053	10	0.27082	T	0.32	.	15.305	0.73985	0.0:0.0:0.0:1.0	.	46;46	Q9Y217;Q9Y217-2	MTMR6_HUMAN;.	A	46	ENSP00000443161:T46A;ENSP00000371221:T46A	ENSP00000371221:T46A	T	-	1	0	MTMR6	24746214	1.000000	0.71417	1.000000	0.80357	0.451000	0.32288	4.226000	0.58606	2.075000	0.62263	0.482000	0.46254	ACC		0.338	MTMR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044225.1	NM_004685		27	73	27	73	---	---	---	---
RTF1	23168	broad.mit.edu	37	15	41769659	41769659	+	Silent	SNP	C	C	T			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr15:41769659C>T	ENST00000389629.4	+	14	1698	c.1686C>T	c.(1684-1686)taC>taT	p.Y562Y		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	562					DNA-templated transcription, initiation (GO:0006352)|endodermal cell fate commitment (GO:0001711)|histone H3-K4 trimethylation (GO:0080182)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		CCCACAGTTACATCAACCAGC	0.458																																						ENST00000389629.4																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18						c.(1684-1686)taC>taT		Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)							114.0	109.0	111.0					15																	41769659		2203	4300	6503	SO:0001819	synonymous_variant	23168				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding	g.chr15:41769659C>T	D87440	CCDS32200.2	15q14	2004-03-03	2005-07-20	2005-07-20	ENSG00000137815	ENSG00000137815			28996	protein-coding gene	gene with protein product		611633	"""KIAA0252"""	KIAA0252		15632063	Standard	NM_015138		Approved		uc001zny.3	Q92541	OTTHUMG00000133744	ENST00000389629.4:c.1686C>T	15.37:g.41769659C>T							p.Y562Y	NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)	14	1698	+		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)	562					Q96BX6	Silent	SNP	ENST00000389629.4	37	c.1686C>T	CCDS32200.2																																																																																				0.458	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258111.1	NM_015138		22	64	22	64	---	---	---	---
KRT12	3859	broad.mit.edu	37	17	39021060	39021060	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr17:39021060C>A	ENST00000251643.4	-	3	828	c.805G>T	c.(805-807)Gat>Tat	p.D269Y	RP5-1110E20.1_ENST00000579136.1_RNA	NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	269	Coil 1B.|Rod.				visual perception (GO:0007601)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)			Griseofulvin(DB00400)	TGACTCACATCCTCGTGGTTC	0.507																																						ENST00000251643.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15						c.(805-807)Gat>Tat		keratin 12							110.0	110.0	110.0					17																	39021060		2203	4300	6503	SO:0001583	missense	3859				visual perception	intermediate filament	structural molecule activity	g.chr17:39021060C>A		CCDS11378.1	17q21.2	2013-06-20	2008-08-01		ENSG00000187242	ENSG00000187242		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6414	protein-coding gene	gene with protein product	"""Meesmann corneal dystrophy"""	601687				9171831, 16831889	Standard	NM_000223		Approved	K12	uc002hvk.2	Q99456	OTTHUMG00000133369	ENST00000251643.4:c.805G>T	17.37:g.39021060C>A	ENSP00000251643:p.Asp269Tyr						p.D269Y	NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN			3	828	-		Breast(137;0.000301)	269			Coil 1B.|Rod.		B2R9E0	Missense_Mutation	SNP	ENST00000251643.4	37	c.805G>T	CCDS11378.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.208733	0.58343	.	.	ENSG00000187242	ENST00000251643	T	0.80393	-1.37	5.96	5.96	0.96718	Filament (1);	0.152024	0.30584	N	0.009310	T	0.80691	0.4671	L	0.55213	1.73	0.37334	D	0.91011	P	0.43938	0.822	B	0.41174	0.349	D	0.84518	0.0626	10	0.87932	D	0	.	20.422	0.99049	0.0:1.0:0.0:0.0	.	269	Q99456	K1C12_HUMAN	Y	269	ENSP00000251643:D269Y	ENSP00000251643:D269Y	D	-	1	0	KRT12	36274586	1.000000	0.71417	0.997000	0.53966	0.166000	0.22503	4.964000	0.63701	2.832000	0.97577	0.655000	0.94253	GAT		0.507	KRT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257214.2	NM_000223		18	106	18	106	---	---	---	---
JUP	3728	broad.mit.edu	37	17	39915087	39915087	+	Silent	SNP	G	G	A			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr17:39915087G>A	ENST00000393931.3	-	9	1651	c.1533C>T	c.(1531-1533)tgC>tgT	p.C511C	JUP_ENST00000310706.5_Silent_p.C511C|JUP_ENST00000540235.1_Intron|JUP_ENST00000393930.1_Silent_p.C511C	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	511					adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005)	actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GGTTGGCTGGGCACAGGGCCA	0.622																																					Colon(16;42 520 6044 17852 28530)	ENST00000393931.3																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23						c.(1531-1533)tgC>tgT		junction plakoglobin							28.0	30.0	29.0					17																	39915087		2203	4300	6503	SO:0001819	synonymous_variant	3728				adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity	g.chr17:39915087G>A	AF233882	CCDS11407.1	17q21	2014-09-17	2004-08-09		ENSG00000173801	ENSG00000173801		"""Armadillo repeat containing"""	6207	protein-coding gene	gene with protein product		173325	"""catenin (cadherin-associated protein), gamma 80kDa"""	CTNNG		1889810, 7604000	Standard	NM_021991		Approved	DP3, PDGB, PKGB, DPIII	uc002hxs.2	P14923	OTTHUMG00000133494	ENST00000393931.3:c.1533C>T	17.37:g.39915087G>A						JUP_ENST00000540235.1_Intron|JUP_ENST00000393930.1_Silent_p.C511C|JUP_ENST00000310706.5_Silent_p.C511C	p.C511C	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)	9	1651	-		Breast(137;0.000162)	511					Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Silent	SNP	ENST00000393931.3	37	c.1533C>T	CCDS11407.1																																																																																				0.622	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257406.1			3	11	3	11	---	---	---	---
C17orf47	284083	broad.mit.edu	37	17	56620062	56620062	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr17:56620062G>A	ENST00000321691.3	-	1	1667	c.1486C>T	c.(1486-1488)Cca>Tca	p.P496S	RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000457347.2_5'Flank|RP11-112H10.4_ENST00000578022.1_RNA|SEPT4_ENST00000412945.3_5'Flank|RP11-112H10.4_ENST00000580769.1_RNA	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	496										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCACTCAGTGGTGCCCAACTT	0.493																																						ENST00000321691.3																			0				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(1486-1488)Cca>Tca		chromosome 17 open reading frame 47							251.0	253.0	253.0					17																	56620062		2203	4300	6503	SO:0001583	missense	284083							g.chr17:56620062G>A		CCDS32691.1	17q23.2	2012-10-11			ENSG00000181013	ENSG00000181013			26844	protein-coding gene	gene with protein product							Standard	NM_001038704		Approved	FLJ40121	uc002iwq.2	Q8NEP4	OTTHUMG00000179244	ENST00000321691.3:c.1486C>T	17.37:g.56620062G>A	ENSP00000354874:p.Pro496Ser					RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA	p.P496S	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN			1	1667	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		496					Q8N821	Missense_Mutation	SNP	ENST00000321691.3	37	c.1486C>T	CCDS32691.1	.	.	.	.	.	.	.	.	.	.	G	2.887	-0.230423	0.05983	.	.	ENSG00000181013	ENST00000321691	T	0.31510	1.49	5.6	0.954	0.19595	.	0.428023	0.22489	N	0.059400	T	0.17109	0.0411	L	0.29908	0.895	0.09310	N	1	P	0.41393	0.748	B	0.40101	0.319	T	0.06899	-1.0801	10	0.30078	T	0.28	-5.9125	3.1278	0.06413	0.3059:0.0:0.5045:0.1896	.	496	Q8NEP4	CQ047_HUMAN	S	496	ENSP00000354874:P496S	ENSP00000354874:P496S	P	-	1	0	C17orf47	53975061	0.000000	0.05858	0.114000	0.21550	0.051000	0.14879	0.488000	0.22371	0.741000	0.32674	-0.258000	0.10820	CCA		0.493	C17orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445443.1	NM_001038704		17	330	17	330	---	---	---	---
HEATR6	63897	broad.mit.edu	37	17	58143748	58143748	+	Splice_Site	SNP	C	C	T			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr17:58143748C>T	ENST00000184956.6	-	9	1255		c.e9-1		HEATR6_ENST00000585976.1_Splice_Site	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6								poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			TTGGTAAGACCTTTCATAACC	0.284																																						ENST00000184956.6																			0				NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.e9-1		HEAT repeat containing 6							34.0	36.0	35.0					17																	58143748		2202	4299	6501	SO:0001630	splice_region_variant	63897						binding	g.chr17:58143748C>T	BX640819	CCDS11623.1	17q23.2	2007-05-01				ENSG00000068097			24076	protein-coding gene	gene with protein product	"""amplified in breast cancer 1"""					12755490	Standard	NM_022070		Approved	ABC1, FLJ22087	uc002iyk.1	Q6AI08		ENST00000184956.6:c.1239-1G>A	17.37:g.58143748C>T						HEATR6_ENST00000585976.1_Splice_Site		NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)		9	1255	-	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)							B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Splice_Site	SNP	ENST00000184956.6	37		CCDS11623.1	.	.	.	.	.	.	.	.	.	.	.	23.1	4.371763	0.82573	.	.	ENSG00000068097	ENST00000184956;ENST00000393017	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5152	0.95160	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HEATR6	55498530	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.067000	0.76741	2.937000	0.99478	0.650000	0.86243	.		0.284	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449165.1	NM_022070	Intron	5	19	5	19	---	---	---	---
BMPR1B	658	broad.mit.edu	37	4	96046274	96046275	+	Splice_Site	INS	-	-	A			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr4:96046274_96046275insA	ENST00000515059.1	+	8	868		c.e8+2		BMPR1B_ENST00000264568.4_Splice_Site|BMPR1B_ENST00000394931.1_Splice_Site|BMPR1B_ENST00000440890.2_Splice_Site	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB						BMP signaling pathway (GO:0030509)|cartilage condensation (GO:0001502)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|eye development (GO:0001654)|inflammatory response (GO:0006954)|limb morphogenesis (GO:0035108)|ovarian cumulus expansion (GO:0001550)|ovulation cycle (GO:0042698)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell differentiation (GO:0045597)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of osteoblast differentiation (GO:0045669)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|skeletal system development (GO:0001501)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		CCTCTGCTGGTATGAGAAGAAC	0.421																																						ENST00000515059.1																			0				breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.e8+2		bone morphogenetic protein receptor, type IB																																				SO:0001630	splice_region_variant	658				BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity	g.chr4:96046274_96046275insA	D89675	CCDS3642.1, CCDS58919.1	4q23-q24	2008-02-05			ENSG00000138696	ENSG00000138696		"""CD molecules"""	1077	protein-coding gene	gene with protein product		603248				8140412, 9730621	Standard	NM_001203		Approved	ALK6, CDw293	uc031sgn.1	O00238	OTTHUMG00000130991	ENST00000515059.1:c.585+2->A	4.37:g.96046275_96046275dupA						BMPR1B_ENST00000440890.2_Splice_Site|BMPR1B_ENST00000394931.1_Splice_Site|BMPR1B_ENST00000264568.4_Splice_Site		NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)	8	868	+		Hepatocellular(203;0.114)						B2R953|B4DSV1|P78366	Splice_Site	INS	ENST00000515059.1	37		CCDS3642.1																																																																																				0.421	BMPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253609.3	NM_001203	Intron	11	36	11	36	---	---	---	---
