#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_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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	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_Description	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_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_AccessionNumbers	i_HGNC_CCDS IDs	i_HGNC_CCDSIDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_DateModified	i_HGNC_DateNameChanged	i_HGNC_DateSymbolChanged	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_EnsemblGeneID	i_HGNC_EnsemblIDsuppliedbyEnsembl	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_Genefamilydescription	i_HGNC_HGNC ID	i_HGNC_HGNCID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_LocusGroup	i_HGNC_LocusType	i_HGNC_Name Synonyms	i_HGNC_NameSynonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_OMIMIDsuppliedbyNCBI	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_PreviousNames	i_HGNC_PreviousSymbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_PubmedIDs	i_HGNC_Record Type	i_HGNC_RecordType	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_RefSeqsuppliedbyNCBI	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UCSCIDsuppliedbyUCSC	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_UniProtIDsuppliedbyUniProt	i_HGNC_VEGA IDs	i_HGNC_VEGAIDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	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_Region	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_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_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_hg18_pos1coor	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_init_n_lod	i_init_t_lod	i_n_alt_count	i_n_alt_count_full	i_n_ref_count	i_n_ref_count_full	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_lod_fstar	i_t_lod_fstar_full	i_t_ref_count_full	i_tumor_f_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	tumor_f
SSH1	54434	broad.mit.edu	37	12	109182113	109182113	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr12:109182113C>T	ENST00000326495.5	-	15	2894	c.2801G>A	c.(2800-2802)cGg>cAg	p.R934Q	SSH1_ENST00000360239.3_Missense_Mutation_p.R622Q	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	934	Interaction with YWHAG.				actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCTGGAGCTCCGGGTCAGGTT	0.597																																						ENST00000326495.5											0			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(2800-2802)cGg>cAg	slingshot protein phosphatase 1						57.0	61.0	60.0					12																	109182113		2197	4295	6492	SO:0001583	missense	54434			actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr12:109182113C>T	BC062341	BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05		2013-03-05	2013-03-05			ENSG00000084112		ENSG00000084112		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30579	30579	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606778	606778	"""slingshot homolog 1 (Drosophila)"""		"""slingshot homolog 1 (Drosophila)"""			10718198, 11832213	10718198, 11832213	Standard	Standard	NM_018984	NM_018984		Approved	KIAA1298	uc001tnm.3	uc001tnm.3	Q8WYL5	Q8WYL5	OTTHUMG00000169371	OTTHUMG00000169371	ENST00000326495.5:c.2801G>A	12.37:g.109182113C>T	ENSP00000315713:p.Arg934Gln		SSH1_ENST00000360239.3_Missense_Mutation_p.R622Q	p.R934Q	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN			15	2894	-			934	Interaction with YWHAG.	Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Missense_Mutation	SNP	ENST00000326495.5	37	c.2801G>A	CCDS9121.1	.	.	.	.	.	.	.	.	.	.	C	31	5.065292	0.93898	.	.	ENSG00000084112	ENST00000360239;ENST00000326495	T;T	0.16897	2.41;2.31	5.44	4.55	0.56014	5.44	4.55	0.56014	.	0.152283	0.64402	D	0.000011	T	0.40694	0.1127	M	0.70275	2.135	0.41014	D	0.98502	D;D	0.89917	0.999;1.0	P;D	0.83275	0.715;0.996	T	0.27739	-1.0065	10	0.45353	T	0.12	-29.3895	14.4201	0.67177	0.0:0.9284:0.0:0.0716	.	934;622	Q8WYL5;Q8WYL5-4	SSH1_HUMAN;.	Q	622;934	ENSP00000353374:R622Q;ENSP00000315713:R934Q	ENSP00000315713:R934Q	R	-	2	0	0	SSH1	107706242	107706242	1.000000	0.71417	0.994000	0.49952	0.982000	0.71751	7.452000	0.80683	1.307000	0.44944	0.650000	0.86243	CGG		0.597	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1		101.826087	-9	-9	81	81	NM_018984		31	101.826087	101.826087	31	0.500000	0	0	0	1	0	31	31	0.5
LUZP1	7798	broad.mit.edu	37	1	23418504	23418504	+	Missense_Mutation	SNP	G	G	A	rs146031719	byFrequency	TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr1:23418504G>A	ENST00000302291.4	-	4	3052	c.2251C>T	c.(2251-2253)Cgg>Tgg	p.R751W	LUZP1_ENST00000418342.1_Missense_Mutation_p.R751W|LUZP1_ENST00000314174.5_Missense_Mutation_p.R751W|LUZP1_ENST00000374623.3_Missense_Mutation_p.R751W			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	751					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		GCTCTAGACCGCAACGCCTCT	0.478																																						ENST00000302291.4											0			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31						c.(2251-2253)Cgg>Tgg	leucine zipper protein 1	G	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	135.0	143.0	140.0		2251,2251	3.4	1.0	1	dbSNP_134	140	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	LUZP1	NM_001142546.1,NM_033631.3	101,101	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	751/1077,751/1077	23418504	2,13004	2203	4300	6503	SO:0001583	missense	7798				nucleus		g.chr1:23418504G>A	BC051733	BC051733	CCDS30628.1	CCDS30628.1	1p36	2008-02-05			2008-02-05			ENSG00000169641	ENSG00000169641	ENSG00000169641	ENSG00000169641				14985	14985	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601422	601422						8812416	8812416	Standard	Standard	NM_033631	NM_033631		Approved	LUZP	uc010odv.1	uc010odv.1	Q86V48	Q86V48	OTTHUMG00000003227	OTTHUMG00000003227	ENST00000302291.4:c.2251C>T	1.37:g.23418504G>A	ENSP00000303758:p.Arg751Trp		LUZP1_ENST00000418342.1_Missense_Mutation_p.R751W|LUZP1_ENST00000374623.3_Missense_Mutation_p.R751W|LUZP1_ENST00000314174.5_Missense_Mutation_p.R751W	p.R751W			Q86V48	LUZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)	4	3052	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)	751		Q5TH93|Q8N4X3|Q8TEH1	Missense_Mutation	SNP	ENST00000302291.4	37	c.2251C>T	CCDS30628.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.461067	0.63513	2.27E-4	1.16E-4	ENSG00000169641	ENST00000418342;ENST00000374623;ENST00000302291;ENST00000314174	T;T;T;T	0.19105	2.37;2.37;2.37;2.17	5.27	3.37	0.38596	5.27	3.37	0.38596	.	0.158849	0.29707	N	0.011415	T	0.19287	0.0463	L	0.57536	1.79	0.28033	N	0.93406	B;B	0.26876	0.083;0.162	B;B	0.21917	0.027;0.037	T	0.12604	-1.0541	10	0.51188	T	0.08	.	7.6254	0.28210	0.0802:0.0:0.6097:0.31	.	751;751	Q86V48-2;Q86V48	.;LUZP1_HUMAN	W	751	ENSP00000393460:R751W;ENSP00000363752:R751W;ENSP00000303758:R751W;ENSP00000313705:R751W	ENSP00000303758:R751W	R	-	1	2	2	LUZP1	23291091	23291091	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	2.382000	0.44345	1.211000	0.43351	0.485000	0.47835	CGG		0.478	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3		-32.337774	3	3	189	189	NM_033631		4	7.117834	7.117834	154	0.025316	0	0	0	1	0	4	154	0.025316
WDR66	144406	broad.mit.edu	37	12	122392079	122392079	+	Silent	SNP	A	A	G			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr12:122392079A>G	ENST00000288912.4	+	10	2228	c.1374A>G	c.(1372-1374)ttA>ttG	p.L458L	WDR66_ENST00000397454.2_Silent_p.L458L	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	458							calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		ACTTGAATTTAACACAAATAC	0.413																																					Esophageal Squamous(85;849 1794 49757 52143)	ENST00000288912.4											0			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1372-1374)ttA>ttG	WD repeat domain 66						98.0	94.0	95.0					12																	122392079		1897	4120	6017	SO:0001819	synonymous_variant	144406					calcium ion binding	g.chr12:122392079A>G	AL833930	AL833930	CCDS41853.1, CCDS53840.1	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			2014-07-31			ENSG00000158023	ENSG00000158023	ENSG00000158023	ENSG00000158023		"""WD repeat domain containing"""	"""WD repeat domain containing"""	28506	28506	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										17967944	17967944	Standard	Standard	NM_001178003	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	uc009zxk.3	Q8TBY9	Q8TBY9	OTTHUMG00000168948	OTTHUMG00000168948	ENST00000288912.4:c.1374A>G	12.37:g.122392079A>G			WDR66_ENST00000397454.2_Silent_p.L458L	p.L458L	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)	10	2228	+	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)		458		C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Silent	SNP	ENST00000288912.4	37	c.1374A>G	CCDS41853.1																																																																																									0.413	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1		176.800787	6	6	126	126	NM_144668		52	177.204359	177.204359	39	0.571429	0	0	0	1	0	52	39	0.571429
COL18A1	80781	broad.mit.edu	37	21	46930115	46930115	+	Silent	SNP	G	G	A			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr21:46930115G>A	ENST00000359759.4	+	39	4899	c.4878G>A	c.(4876-4878)caG>caA	p.Q1626Q	COL18A1_ENST00000400337.2_Silent_p.Q1211Q|COL18A1_ENST00000355480.5_Silent_p.Q1391Q|SLC19A1_ENST00000567670.1_Intron|SLC19A1_ENST00000468508.1_5'Flank			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1626	Nonhelical region 11 (NC11).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CGCGCCTGCAGGACCTGTACA	0.726																																						ENST00000359759.4											0			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(4876-4878)caG>caA	collagen, type XVIII, alpha 1						8.0	11.0	10.0					21																	46930115		2006	4132	6138	SO:0001819	synonymous_variant	80781			cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46930115G>A			CCDS42971.1, CCDS42972.1	CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			2013-01-16			ENSG00000182871	ENSG00000182871	ENSG00000182871	ENSG00000182871		"""Collagens"""	"""Collagens"""	2195	2195	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""endostatin"""	"""endostatin"""	120328	120328	"""Knobloch syndrome, type 1"""	KNO	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	8188291, 8776601, 10942434, 17546652	Standard	Standard	NM_130445	NM_130445		Approved	KS, KNO1	uc002zhi.3	uc002zhi.3	P39060	P39060	OTTHUMG00000090407	OTTHUMG00000090407	ENST00000359759.4:c.4878G>A	21.37:g.46930115G>A			COL18A1_ENST00000400337.2_Silent_p.Q1211Q|COL18A1_ENST00000355480.5_Silent_p.Q1391Q|SLC19A1_ENST00000567670.1_Intron	p.Q1626Q			P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	39	4899	+			1626	Nonhelical region 11 (NC11).	A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Silent	SNP	ENST00000359759.4	37	c.4878G>A		.	.	.	.	.	.	.	.	.	.	G	9.305	1.053998	0.19907	.	.	ENSG00000182871	ENST00000423214	.	.	.	4.46	1.57	0.23409	4.46	1.57	0.23409	.	.	.	.	.	T	0.55721	0.1938	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48222	-0.9054	4	.	.	.	.	8.1174	0.30950	0.3609:0.0:0.6391:0.0	.	.	.	.	K	196	.	.	R	+	2	0	0	COL18A1	45754543	45754543	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	0.958000	0.29227	0.444000	0.26612	-0.137000	0.14449	AGG		0.726	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1		12.701495	3	3	14	14			4	12.848921	12.848921	2	0.666667	0	0	0	1	0	4	2	0.666667
MRPL4	51073	broad.mit.edu	37	19	10365278	10365278	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr19:10365278C>T	ENST00000253099.6	+	4	576	c.289C>T	c.(289-291)Cac>Tac	p.H97Y	MRPL4_ENST00000307422.5_Missense_Mutation_p.H97Y|MRPL4_ENST00000588502.1_Missense_Mutation_p.H96Y|CTD-2369P2.5_ENST00000592893.1_RNA|MRPL4_ENST00000393733.2_Missense_Mutation_p.H97Y|MRPL4_ENST00000590669.1_Missense_Mutation_p.H97Y	NM_015956.2|NM_146388.1	NP_057040.2|NP_666500.1	Q9BYD3	RM04_HUMAN	mitochondrial ribosomal protein L4	97					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11		Renal(1328;0.0112)	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)		GGACATACTGCACCAGGTTGC	0.537																																						ENST00000393733.2											0			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(289-291)Cac>Tac	mitochondrial ribosomal protein L4						225.0	208.0	214.0					19																	10365278		2203	4300	6503	SO:0001583	missense	51073			translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr19:10365278C>T	AB049635	AB049635	CCDS12230.1, CCDS42499.1	CCDS12230.1, CCDS42499.1	19p13.2	2012-11-14			2012-11-14			ENSG00000105364	ENSG00000105364	ENSG00000105364	ENSG00000105364		"""Mitochondrial ribosomal proteins / large subunits"""	"""Mitochondrial ribosomal proteins / large subunits"""	14276	14276	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611823	611823								Standard	Standard	NM_015956	NM_015956		Approved	CGI-28	uc002mnn.3	uc002mnn.3	Q9BYD3	Q9BYD3	OTTHUMG00000180400	OTTHUMG00000180400	ENST00000253099.6:c.289C>T	19.37:g.10365278C>T	ENSP00000253099:p.His97Tyr		MRPL4_ENST00000588502.1_Missense_Mutation_p.H96Y|MRPL4_ENST00000253099.6_Missense_Mutation_p.H97Y|CTD-2369P2.5_ENST00000592893.1_RNA|MRPL4_ENST00000590669.1_Missense_Mutation_p.H97Y|MRPL4_ENST00000307422.5_Missense_Mutation_p.H97Y	p.H97Y			Q9BYD3	RM04_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)	4	316	+		Renal(1328;0.0112)	97		A6NNV7|Q9BW07|Q9H4N2|Q9Y317	Missense_Mutation	SNP	ENST00000253099.6	37	c.289C>T	CCDS12230.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.205545	0.58234	.	.	ENSG00000105364	ENST00000253099;ENST00000307422;ENST00000393733	.	.	.	4.78	2.65	0.31530	4.78	2.65	0.31530	Ribosomal protein L4 domain (1);	0.053696	0.64402	D	0.000001	T	0.67998	0.2953	M	0.70275	2.135	0.51012	D	0.999909	D;D	0.62365	0.972;0.991	P;P	0.61722	0.828;0.893	T	0.66956	-0.5792	9	0.52906	T	0.07	-27.9053	9.1055	0.36696	0.0:0.8186:0.0:0.1814	.	97;97	Q9BYD3-2;Q9BYD3	.;RM04_HUMAN	Y	97	.	ENSP00000253099:H97Y	H	+	1	0	0	MRPL4	10226278	10226278	1.000000	0.71417	0.959000	0.39883	0.352000	0.29268	4.944000	0.63561	0.545000	0.28902	0.555000	0.69702	CAC		0.537	MRPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451197.1		182.447738	29	29	247	247			61	183.062543	183.062543	81	0.429577	0	0	0	1	0	61	81	0.429577
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4		Dom	yes		9	9q21	2776	"""guanine nucleotide binding protein (G protein), q polypeptide"""		E	153	Substitution - Missense(153)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cCa	guanine nucleotide binding protein (G protein), q polypeptide						108.0	105.0	106.0					9																	80409488		2203	4300	6503	SO:0001583	missense	2776			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>G			CCDS6658.1	CCDS6658.1	9q21	2010-03-17			2010-03-17			ENSG00000156052	ENSG00000156052	ENSG00000156052	ENSG00000156052				4390	4390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600998	600998						8825633	8825633	Standard	Standard	NM_002072	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	uc004akw.3	P50148	P50148	OTTHUMG00000020059	OTTHUMG00000020059	ENST00000286548.4:c.626A>C	9.37:g.80409488T>G	ENSP00000286548:p.Gln209Pro		GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	p.Q209P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			5	848	-			209		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>C	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614273	0.87359	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97164	0.9073	H	0.97291	3.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98607	1.0661	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	P	209;7	ENSP00000286548:Q209P;ENSP00000443197:Q7P	ENSP00000286548:Q209P	Q	-	2	0	0	GNAQ	79599308	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		106.393341	2	2	114	114	NM_002072		32	106.586611	106.586611	40	0.444444	0	0	0	1	0	32	40	0.444444
FGFR2	2263	broad.mit.edu	37	10	123298226	123298226	+	Nonsense_Mutation	SNP	G	G	A			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr10:123298226G>A	ENST00000358487.5	-	6	900	c.628C>T	c.(628-630)Cga>Tga	p.R210*	FGFR2_ENST00000360144.3_Nonsense_Mutation_p.R121*|FGFR2_ENST00000357555.5_Nonsense_Mutation_p.R121*|FGFR2_ENST00000356226.4_Nonsense_Mutation_p.R95*|FGFR2_ENST00000346997.2_Nonsense_Mutation_p.R210*|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000369056.1_Nonsense_Mutation_p.R210*|FGFR2_ENST00000369061.4_Nonsense_Mutation_p.R210*|FGFR2_ENST00000359354.2_Nonsense_Mutation_p.R210*|FGFR2_ENST00000369059.1_Nonsense_Mutation_p.R95*|FGFR2_ENST00000351936.6_Nonsense_Mutation_p.R210*|FGFR2_ENST00000369060.4_Nonsense_Mutation_p.R210*|FGFR2_ENST00000457416.2_Nonsense_Mutation_p.R210*	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	210	Ig-like C2-type 2.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	TGCTGGTTTCGTACCTGAAAA	0.423		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome																													ENST00000358487.5		Dom	yes		10	10q26	2263	fibroblast growth factor receptor 2	yes	E	0			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181						c.(628-630)Cga>Tga	fibroblast growth factor receptor 2						136.0	119.0	124.0					10																	123298226		2203	4300	6503	SO:0001587	stop_gained	2263	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	g.chr10:123298226G>A	AK026508	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468	ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	3689	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS				Standard	Standard	NM_022970	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	uc021pzy.1	P21802	P21802	OTTHUMG00000019175	OTTHUMG00000019175	ENST00000358487.5:c.628C>T	10.37:g.123298226G>A	ENSP00000351276:p.Arg210*		FGFR2_ENST00000369060.4_Nonsense_Mutation_p.R210*|FGFR2_ENST00000356226.4_Nonsense_Mutation_p.R95*|FGFR2_ENST00000351936.6_Nonsense_Mutation_p.R210*|FGFR2_ENST00000369056.1_Nonsense_Mutation_p.R210*|FGFR2_ENST00000346997.2_Nonsense_Mutation_p.R210*|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000369061.4_Nonsense_Mutation_p.R210*|FGFR2_ENST00000359354.2_Nonsense_Mutation_p.R210*|FGFR2_ENST00000369059.1_Nonsense_Mutation_p.R95*|FGFR2_ENST00000357555.5_Nonsense_Mutation_p.R121*|FGFR2_ENST00000457416.2_Nonsense_Mutation_p.R210*|FGFR2_ENST00000360144.3_Nonsense_Mutation_p.R121*	p.R210*	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	6	900	-		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	210	Ig-like C2-type 2.	B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Nonsense_Mutation	SNP	ENST00000358487.5	37	c.628C>T	CCDS31298.1	.	.	.	.	.	.	.	.	.	.	G	42	9.173824	0.99089	.	.	ENSG00000066468	ENST00000357555;ENST00000369062;ENST00000369061;ENST00000358487;ENST00000356226;ENST00000369060;ENST00000369059;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000360144;ENST00000369056;ENST00000369058;ENST00000336553;ENST00000359354	.	.	.	5.87	5.87	0.94306	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	.	.	.	X	121;210;210;210;95;210;95;210;210;210;121;210;210;121;210	.	ENSP00000337665:R121X	R	-	1	2	2	FGFR2	123288216	123288216	1.000000	0.71417	0.999000	0.59377	0.946000	0.59487	7.751000	0.85126	2.941000	0.99782	0.655000	0.94253	CGA		0.423	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1		96.550267	-7	-7	85	85	NM_022976, NM_000141		30	96.553776	96.553776	31	0.491803	0	0	0	1	0	30	31	0.491803
TRERF1	55809	broad.mit.edu	37	6	42196196	42196196	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr6:42196196C>T	ENST00000372922.4	-	18	4052	c.3490G>A	c.(3490-3492)Gac>Aac	p.D1164N	TRERF1_ENST00000372917.4_Missense_Mutation_p.D1093N|TRERF1_ENST00000354325.2_Missense_Mutation_p.D1081N|TRERF1_ENST00000541110.1_Missense_Mutation_p.D1184N|TRERF1_ENST00000340840.2_Missense_Mutation_p.D1093N	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1164	Interacts with CREBBP.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.D1164N(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			ACGACGTCGTCGTCGAGGATG	0.577																																						ENST00000541110.1											1	Substitution - Missense(1)	ovary(1)	breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45						c.(3550-3552)Gac>Aac	transcriptional regulating factor 1						150.0	143.0	145.0					6																	42196196		2203	4300	6503	SO:0001583	missense	55809			cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42196196C>T	AF297872	AF297872	CCDS4867.1, CCDS75455.1	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			2012-09-25			ENSG00000124496	ENSG00000124496	ENSG00000124496	ENSG00000124496				18273	18273	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610322	610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	11349124	Standard	Standard	XM_005249223	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	uc003osd.2	Q96PN7	Q96PN7	OTTHUMG00000014698	OTTHUMG00000014698	ENST00000372922.4:c.3490G>A	6.37:g.42196196C>T	ENSP00000362013:p.Asp1164Asn		TRERF1_ENST00000372922.4_Missense_Mutation_p.D1164N|TRERF1_ENST00000340840.2_Missense_Mutation_p.D1093N|TRERF1_ENST00000354325.2_Missense_Mutation_p.D1081N|TRERF1_ENST00000372917.4_Missense_Mutation_p.D1093N	p.D1184N			Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		18	4118	-	Colorectal(47;0.196)		1164	Interacts with CREBBP.	Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Missense_Mutation	SNP	ENST00000372922.4	37	c.3550G>A	CCDS4867.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.803405	0.50315	.	.	ENSG00000124496	ENST00000541110;ENST00000372917;ENST00000372922;ENST00000340840;ENST00000354325	T;T;T;T;T	0.12879	2.82;2.64;2.84;2.64;2.64	5.78	4.89	0.63831	5.78	4.89	0.63831	.	0.529823	0.18083	N	0.152222	T	0.03011	0.0089	N	0.14661	0.345	0.09310	N	1	B;B;B;B;P	0.51791	0.013;0.007;0.007;0.013;0.948	B;B;B;B;B	0.42771	0.003;0.001;0.001;0.003;0.397	T	0.28138	-1.0053	10	0.37606	T	0.19	-4.353	7.4591	0.27285	0.0:0.7183:0.1413:0.1405	.	1081;1184;1164;920;932	Q96PN7-4;Q05GC8;Q96PN7;Q96PN7-2;Q96PN7-3	.;.;TREF1_HUMAN;.;.	N	1184;1093;1164;1093;1081	ENSP00000439689:D1184N;ENSP00000362008:D1093N;ENSP00000362013:D1164N;ENSP00000339438:D1093N;ENSP00000346285:D1081N	ENSP00000339438:D1093N	D	-	1	0	0	TRERF1	42304174	42304174	0.038000	0.19896	0.003000	0.11579	0.602000	0.36980	2.109000	0.41863	1.411000	0.46957	0.563000	0.77884	GAC		0.577	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2		136.137258	-5	-5	157	157	NM_033502		54	148.769953	148.769953	164	0.247706	0	0	0	1	0	54	164	0.247706
FASTKD3	79072	broad.mit.edu	37	5	7859575	7859575	+	Silent	SNP	T	T	C			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr5:7859575T>C	ENST00000264669.5	-	7	2098	c.1962A>G	c.(1960-1962)caA>caG	p.Q654Q	MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_5'UTR	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	654					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GAACAGTGTTTTGAGAAAACA	0.318																																						ENST00000264669.5											0			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1960-1962)caA>caG	FAST kinase domains 3						86.0	86.0	86.0					5																	7859575		2202	4298	6500	SO:0001819	synonymous_variant	79072			apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr5:7859575T>C	AK026927	AK026927	CCDS3873.1	CCDS3873.1	5p15.31	2008-02-05			2008-02-05			ENSG00000124279	ENSG00000124279	ENSG00000124279	ENSG00000124279				28758	28758	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12477932	12477932	Standard	Standard	NM_024091	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	uc003jeb.3	Q14CZ7	Q14CZ7	OTTHUMG00000131029	OTTHUMG00000131029	ENST00000264669.5:c.1962A>G	5.37:g.7859575T>C			FASTKD3_ENST00000513658.1_5'UTR|MTRR_ENST00000502509.1_Intron	p.Q654Q	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN			7	2098	-			654		Q9BVD3	Silent	SNP	ENST00000264669.5	37	c.1962A>G	CCDS3873.1																																																																																									0.318	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1		50.491754	11	11	86	86	NM_024091		16	50.841651	50.841651	24	0.400000	0	0	0	1	0	16	24	0.4
SLC6A13	6540	broad.mit.edu	37	12	333591	333591	+	Silent	SNP	G	G	A	rs145951312		TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr12:333591G>A	ENST00000343164.4	-	10	1201	c.1149C>T	c.(1147-1149)gtC>gtT	p.V383V	SLC6A13_ENST00000539668.1_5'UTR|SLC6A13_ENST00000445055.2_Silent_p.V291V	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	383					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			CCAGGAGAACGACCATGAAGA	0.597																																						ENST00000343164.4											0			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28						c.(1147-1149)gtC>gtT	solute carrier family 6 (neurotransmitter transporter), member 13	G	,	0,4406		0,0,2203	124.0	111.0	115.0		873,1149	-6.1	0.7	12	dbSNP_134	115	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	SLC6A13	NM_001190997.2,NM_016615.4	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	291/511,383/603	333591	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	6540			neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:333591G>A	U76343	U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379	ENSG00000010379	ENSG00000010379		"""Solute carriers"""	"""Solute carriers"""	11046	11046	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""GABA transporter 2"""	"""GABA transporter 2"""	615097	615097	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 13"""		"""solute carrier family 6 (neurotransmitter transporter, GABA), member 13"""					Standard	Standard	NM_001243392	NM_001243392		Approved	GAT2	uc001qic.2	uc001qic.2	Q9NSD5	Q9NSD5	OTTHUMG00000168053	OTTHUMG00000168053	ENST00000343164.4:c.1149C>T	12.37:g.333591G>A			SLC6A13_ENST00000539668.1_5'UTR|SLC6A13_ENST00000445055.2_Silent_p.V291V	p.V383V	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)		10	1201	-	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		383		B4DJL1|Q8TCC2|Q8WW56	Silent	SNP	ENST00000343164.4	37	c.1149C>T	CCDS8502.1																																																																																									0.597	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397801.1		62.596552	5	5	78	78	NM_016615		20	62.642051	62.642051	23	0.465116	0	0	0	1	0	20	23	0.465116
ALG9	79796	broad.mit.edu	37	11	111715342	111715342	+	Silent	SNP	G	G	A			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr11:111715342G>A	ENST00000531154.1	-	9	959	c.487C>T	c.(487-489)Ctg>Ttg	p.L163L	ALG9_ENST00000524880.1_3'UTR|ALG9_ENST00000527228.1_5'UTR|ALG9_ENST00000398006.2_Silent_p.L163L	NM_024740.2	NP_079016.2	Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	334					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052926)|dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052918)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		CTCTGCAGCAGGTATTCCATA	0.403																																						ENST00000398006.2											0			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(487-489)Ctg>Ttg	ALG9, alpha-1,2-mannosyltransferase						118.0	108.0	111.0					11																	111715342		1877	4116	5993	SO:0001819	synonymous_variant	79796			dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity	g.chr11:111715342G>A			CCDS41714.1, CCDS53709.1, CCDS73379.1, CCDS73380.1	CCDS41714.1, CCDS53709.1, CCDS73379.1, CCDS73380.1	11q23	2013-02-26	2013-02-26	2004-08-26	2013-02-26	2013-02-26	2004-08-26	ENSG00000086848	ENSG00000086848	ENSG00000086848	ENSG00000086848	2.4.1.259, 2.4.1.261	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	15672	15672	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"", ""dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"", ""dol-P-Man dependent alpha-1,2-mannosyltransferase"""	"""dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"", ""dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"", ""dol-P-Man dependent alpha-1,2-mannosyltransferase"""	606941	606941	"""disrupted in bipolar affective disorder 1"", ""asparagine-linked glycosylation 9 homolog (yeast, alpha 1,2 mannosyltransferase)"", ""asparagine-linked glycosylation 9, alpha- 1,2-mannosyltransferase homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase)"", ""asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae)"""	DIBD1	"""disrupted in bipolar affective disorder 1"", ""asparagine-linked glycosylation 9 homolog (yeast, alpha 1,2 mannosyltransferase)"", ""asparagine-linked glycosylation 9, alpha- 1,2-mannosyltransferase homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase)"", ""asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae)"""	DIBD1		12030331, 15148656	12030331, 15148656	Standard	Standard	NM_024740	NM_024740		Approved		uc021qql.1	uc021qql.1	Q9H6U8	Q9H6U8	OTTHUMG00000166819	OTTHUMG00000166819	ENST00000531154.1:c.487C>T	11.37:g.111715342G>A			ALG9_ENST00000524880.1_3'UTR|ALG9_ENST00000531154.1_Silent_p.L163L|ALG9_ENST00000527228.1_5'UTR	p.L163L	NM_001077690.1|NM_001077691.1|NM_001077692.1	NP_001071158.1|NP_001071159.1|NP_001071160.1	Q9H6U8	ALG9_HUMAN		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)	9	1395	-		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	334		Q6ZMD5|Q7Z4R4|Q96GS7|Q96PB9|Q9H068	Silent	SNP	ENST00000531154.1	37	c.487C>T	CCDS41714.1																																																																																									0.403	ALG9-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000391485.1		257.574635	24	24	222	222	NM_024740		80	257.703494	257.703494	90	0.470588	0	0	0	1	0	80	90	0.470588
AMZ1	155185	broad.mit.edu	37	7	2740257	2740257	+	Missense_Mutation	SNP	C	C	G			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr7:2740257C>G	ENST00000312371.4	+	2	540	c.172C>G	c.(172-174)Ctg>Gtg	p.L58V	AMZ1_ENST00000407112.1_Missense_Mutation_p.L58V	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	58							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		CTTCTGCACCCTGCTCATCCG	0.677																																						ENST00000312371.4											0			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16						c.(172-174)Ctg>Gtg	archaelysin family metallopeptidase 1						95.0	102.0	100.0					7																	2740257		2203	4300	6503	SO:0001583	missense	155185					metallopeptidase activity|zinc ion binding	g.chr7:2740257C>G	AB075830	AB075830	CCDS34589.1, CCDS64582.1	CCDS34589.1, CCDS64582.1	7p22.3	2008-01-17			2008-01-17			ENSG00000174945	ENSG00000174945	ENSG00000174945	ENSG00000174945				22231	22231	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""archaemetzincin-1"""	"""archaemetzincin-1"""	615168	615168						15972818	15972818	Standard	Standard	NM_133463	NM_133463		Approved	KIAA1950	uc003smr.1	uc003smr.1	Q400G9	Q400G9	OTTHUMG00000152111	OTTHUMG00000152111	ENST00000312371.4:c.172C>G	7.37:g.2740257C>G	ENSP00000308149:p.Leu58Val		AMZ1_ENST00000407112.1_Missense_Mutation_p.L58V	p.L58V	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)	2	540	+		Ovarian(82;0.0779)	58		B3KRS0|Q8TF51	Missense_Mutation	SNP	ENST00000312371.4	37	c.172C>G	CCDS34589.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.464523	0.63513	.	.	ENSG00000174945	ENST00000312371;ENST00000407112	T;T	0.16597	2.33;2.33	4.34	3.21	0.36854	4.34	3.21	0.36854	.	0.286891	0.24368	N	0.039133	T	0.27765	0.0683	M	0.65975	2.015	0.29654	N	0.843744	D;P	0.58268	0.982;0.939	P;B	0.54889	0.763;0.433	T	0.04767	-1.0928	10	0.34782	T	0.22	-16.3083	9.3477	0.38118	0.0:0.8156:0.0:0.1844	.	58;58	B3KRS0;Q400G9	.;AMZ1_HUMAN	V	58	ENSP00000308149:L58V;ENSP00000386020:L58V	ENSP00000308149:L58V	L	+	1	2	2	AMZ1	2706783	2706783	0.485000	0.25972	0.811000	0.32455	0.926000	0.56050	0.836000	0.27545	1.969000	0.57287	0.561000	0.74099	CTG		0.677	AMZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325244.1		159.147655	32	32	177	177	NM_133463		50	159.149811	159.149811	49	0.505051	0	0	0	1	0	50	49	0.505051
BAZ2A	11176	broad.mit.edu	37	12	57003582	57003582	+	Missense_Mutation	SNP	A	A	C			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr12:57003582A>C	ENST00000551812.1	-	10	2229	c.2036T>G	c.(2035-2037)gTc>gGc	p.V679G	BAZ2A_ENST00000179765.5_Missense_Mutation_p.V647G|BAZ2A_ENST00000549884.1_Missense_Mutation_p.V677G|BAZ2A_ENST00000379441.3_Missense_Mutation_p.V649G	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	679	Lys-rich.				chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						AGTGATTTTGACCTTAGGTGG	0.512																																						ENST00000179765.5											0			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						c.(1939-1941)gTc>gGc	bromodomain adjacent to zinc finger domain, 2A						79.0	75.0	76.0					12																	57003582		1903	4120	6023	SO:0001583	missense	11176			chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding	g.chr12:57003582A>C	AB032254	AB032254	CCDS44924.1, CCDS73483.1	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28			2013-01-28				ENSG00000076108		ENSG00000076108		"""Zinc fingers, PHD-type"""	"""Zinc fingers, PHD-type"""	962	962	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	"""TTF-I interacting peptide 5"""	605682	605682						10662543, 11532953	10662543, 11532953	Standard	Standard	XM_005268596	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	uc001slq.1	Q9UIF9	Q9UIF9	OTTHUMG00000170332	OTTHUMG00000170332	ENST00000551812.1:c.2036T>G	12.37:g.57003582A>C	ENSP00000446880:p.Val679Gly		BAZ2A_ENST00000549884.1_Missense_Mutation_p.V677G|BAZ2A_ENST00000379441.3_Missense_Mutation_p.V649G|BAZ2A_ENST00000551812.1_Missense_Mutation_p.V679G	p.V647G			Q9UIF9	BAZ2A_HUMAN			11	2139	-			679		B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	ENST00000551812.1	37	c.1940T>G	CCDS44924.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.97|14.97	2.694188|2.694188	0.48202|0.48202	.|.	.|.	ENSG00000076108|ENSG00000076108	ENST00000547650|ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549884	.|T;T;T;T	.|0.30981	.|2.3;2.3;1.51;2.3	5.02|5.02	5.02|5.02	0.67125|0.67125	5.02|5.02	5.02|5.02	0.67125|0.67125	.|AT hook, DNA-binding motif (1);	.|0.520684	.|0.20307	.|N	.|0.094906	T|T	0.36303|0.36303	0.0962|0.0962	L|L	0.43923|0.43923	1.385|1.385	0.58432|0.58432	D|D	0.999996|0.999996	.|P;P	.|0.46220	.|0.874;0.8	.|P;B	.|0.48227	.|0.571;0.368	T|T	0.17961|0.17961	-1.0352|-1.0352	5|10	.|0.87932	.|D	.|0	.|.	14.1547|14.1547	0.65410|0.65410	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|677;679	.|F8VU39;Q9UIF9	.|.;BAZ2A_HUMAN	A|G	105|649;647;679;677	.|ENSP00000368754:V649G;ENSP00000179765:V647G;ENSP00000446880:V679G;ENSP00000447941:V677G	.|ENSP00000179765:V647G	S|V	-|-	1|2	0|0	0|0	BAZ2A|BAZ2A	55289849|55289849	55289849|55289849	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.868000|0.868000	0.49771|0.49771	3.441000|3.441000	0.52893|0.52893	2.243000|2.243000	0.73865|0.73865	0.533000|0.533000	0.62120|0.62120	TCA|GTC		0.512	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1		19.817705	16	16	46	46	NM_013449		7	20.334466	20.334466	14	0.333333	0	0	0	1	0	7	14	0.333333
ESRRG	2104	broad.mit.edu	37	1	216692613	216692613	+	Missense_Mutation	SNP	T	T	C			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr1:216692613T>C	ENST00000408911.3	-	6	1166	c.1013A>G	c.(1012-1014)aAa>aGa	p.K338R	ESRRG_ENST00000361525.3_Missense_Mutation_p.K315R|ESRRG_ENST00000463665.1_Missense_Mutation_p.K276R|ESRRG_ENST00000359162.2_Missense_Mutation_p.K315R|ESRRG_ENST00000366940.2_Missense_Mutation_p.K315R|ESRRG_ENST00000487276.1_Missense_Mutation_p.K315R|ESRRG_ENST00000391890.3_Missense_Mutation_p.K322R|ESRRG_ENST00000360012.3_Missense_Mutation_p.K315R|ESRRG_ENST00000493748.1_Missense_Mutation_p.K315R|ESRRG_ENST00000361395.2_Missense_Mutation_p.K315R|ESRRG_ENST00000366938.2_Missense_Mutation_p.K315R|ESRRG_ENST00000366937.1_Missense_Mutation_p.K350R|ESRRG_ENST00000493603.1_Missense_Mutation_p.K315R	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	338					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	GCCTGCTAATTTGGACTGGTC	0.403																																						ENST00000391890.3											0			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49						c.(964-966)aAa>aGa	estrogen-related receptor gamma						102.0	97.0	99.0					1																	216692613		2203	4300	6503	SO:0001583	missense	2104			positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:216692613T>C	AF058291	AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			2014-02-18			ENSG00000196482	ENSG00000196482	ENSG00000196482	ENSG00000196482		"""Nuclear hormone receptors"""	"""Nuclear hormone receptors"""	3474	3474	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602969	602969						9676434, 10072763	9676434, 10072763	Standard	Standard	NM_001243505	NM_001243505		Approved	NR3B3	uc001hkw.2	uc001hkw.2	P62508	P62508	OTTHUMG00000037025	OTTHUMG00000037025	ENST00000408911.3:c.1013A>G	1.37:g.216692613T>C	ENSP00000386171:p.Lys338Arg		ESRRG_ENST00000360012.3_Missense_Mutation_p.K315R|ESRRG_ENST00000493603.1_Missense_Mutation_p.K315R|ESRRG_ENST00000366937.1_Missense_Mutation_p.K350R|ESRRG_ENST00000359162.2_Missense_Mutation_p.K315R|ESRRG_ENST00000361525.3_Missense_Mutation_p.K315R|ESRRG_ENST00000366940.2_Missense_Mutation_p.K315R|ESRRG_ENST00000487276.1_Missense_Mutation_p.K315R|ESRRG_ENST00000408911.3_Missense_Mutation_p.K338R|ESRRG_ENST00000463665.1_Missense_Mutation_p.K276R|ESRRG_ENST00000493748.1_Missense_Mutation_p.K315R|ESRRG_ENST00000366938.2_Missense_Mutation_p.K315R|ESRRG_ENST00000361395.2_Missense_Mutation_p.K315R	p.K322R	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	8	1482	-			338		A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Missense_Mutation	SNP	ENST00000408911.3	37	c.965A>G	CCDS41468.1	.	.	.	.	.	.	.	.	.	.	T	6.099	0.386571	0.11524	.	.	ENSG00000196482	ENST00000361525;ENST00000366940;ENST00000366937;ENST00000408911;ENST00000359162;ENST00000361395;ENST00000366938;ENST00000360012;ENST00000493603;ENST00000391890;ENST00000463665;ENST00000487276;ENST00000354407;ENST00000493748;ENST00000475275	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96913	-4.17;-4.17;-4.17;-4.17;-4.17;-4.17;-4.17;-4.17;-4.17;-4.17;-4.17;-4.17;-4.17;-4.17	5.82	5.82	0.92795	5.82	5.82	0.92795	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.87609	0.6220	N	0.01640	-0.785	0.80722	D	1	B;B;B	0.11235	0.0;0.004;0.002	B;B;B	0.09377	0.002;0.004;0.004	D	0.84625	0.0686	10	0.10902	T	0.67	.	16.1814	0.81903	0.0:0.0:0.0:1.0	.	276;350;338	E9PGB7;F8W8J3;P62508	.;.;ERR3_HUMAN	R	315;315;350;338;315;315;315;315;315;322;276;315;315;315;315	ENSP00000355225:K315R;ENSP00000355907:K315R;ENSP00000355904:K350R;ENSP00000386171:K338R;ENSP00000352077:K315R;ENSP00000354584:K315R;ENSP00000355905:K315R;ENSP00000353108:K315R;ENSP00000419594:K315R;ENSP00000375761:K322R;ENSP00000418629:K276R;ENSP00000419155:K315R;ENSP00000417374:K315R;ENSP00000419514:K315R	ENSP00000346386:K315R	K	-	2	0	0	ESRRG	214759236	214759236	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.013000	0.88655	2.234000	0.73211	0.533000	0.62120	AAA		0.403	ESRRG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089882.2		122.335638	20	20	72	72	NM_206595		37	122.339072	122.339072	38	0.493333	0	0	0	1	0	37	38	0.493333
WDHD1	11169	broad.mit.edu	37	14	55424348	55424348	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr14:55424348C>T	ENST00000360586.3	-	22	2772	c.2707G>A	c.(2707-2709)Gtt>Att	p.V903I	WDHD1_ENST00000359167.4_Missense_Mutation_p.V421I|WDHD1_ENST00000421192.1_Missense_Mutation_p.V780I|WDHD1_ENST00000420358.2_Missense_Mutation_p.V780I	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	903					heterochromatin maintenance (GO:0070829)|regulation of chromosome organization (GO:0033044)|RNA processing (GO:0006396)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						CTAAAGGTAACTGCACCTTTC	0.303																																						ENST00000360586.3											0			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						c.(2707-2709)Gtt>Att	WD repeat and HMG-box DNA binding protein 1						58.0	56.0	56.0					14																	55424348		2203	4300	6503	SO:0001583	missense	11169				cytoplasm|nucleoplasm	DNA binding	g.chr14:55424348C>T	AJ006266	AJ006266	CCDS9721.1, CCDS41955.1	CCDS9721.1, CCDS41955.1	14q22.2	2013-01-09			2013-01-09			ENSG00000198554	ENSG00000198554	ENSG00000198554	ENSG00000198554		"""WD repeat domain containing"""	"""WD repeat domain containing"""	23170	23170	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)"""	"""CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)"""	608126	608126						9175701, 20028748	9175701, 20028748	Standard	Standard	NM_007086	NM_007086		Approved	AND-1, CTF4, CHTF4	uc001xbm.2	uc001xbm.2	O75717	O75717	OTTHUMG00000140304	OTTHUMG00000140304	ENST00000360586.3:c.2707G>A	14.37:g.55424348C>T	ENSP00000353793:p.Val903Ile		WDHD1_ENST00000420358.2_Missense_Mutation_p.V780I|WDHD1_ENST00000421192.1_Missense_Mutation_p.V780I|WDHD1_ENST00000359167.4_Missense_Mutation_p.V421I	p.V903I	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN			22	2772	-			903		C9JW18|F6W0U7	Missense_Mutation	SNP	ENST00000360586.3	37	c.2707G>A	CCDS9721.1	.	.	.	.	.	.	.	.	.	.	C	6.382	0.438550	0.12104	.	.	ENSG00000198554	ENST00000360586;ENST00000359167;ENST00000421192	T;T;T	0.62232	0.39;0.91;0.04	4.84	3.01	0.34805	4.84	3.01	0.34805	.	0.400816	0.24236	N	0.040319	T	0.43366	0.1244	L	0.28115	0.83	0.26354	N	0.977152	B;B	0.17667	0.023;0.007	B;B	0.16289	0.015;0.007	T	0.20571	-1.0271	10	0.25106	T	0.35	.	7.3723	0.26808	0.0:0.6629:0.0:0.3371	.	421;903	F8W7P7;O75717	.;WDHD1_HUMAN	I	903;421;780	ENSP00000353793:V903I;ENSP00000352085:V421I;ENSP00000391049:V780I	ENSP00000352085:V421I	V	-	1	0	0	WDHD1	54494098	54494098	1.000000	0.71417	0.998000	0.56505	0.882000	0.50991	2.000000	0.40816	1.048000	0.40298	-0.379000	0.06801	GTT		0.303	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276897.2		49.555636	30	30	94	94	NM_007086		17	49.819076	49.819076	24	0.414634	0	0	0	1	0	17	24	0.414634
SEMA6D	80031	broad.mit.edu	37	15	48058164	48058164	+	Missense_Mutation	SNP	G	G	A	rs189617082		TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr15:48058164G>A	ENST00000316364.5	+	14	1965	c.1526G>A	c.(1525-1527)cGc>cAc	p.R509H	SEMA6D_ENST00000536845.2_Missense_Mutation_p.R509H|SEMA6D_ENST00000354744.4_Missense_Mutation_p.R509H|SEMA6D_ENST00000558014.1_Missense_Mutation_p.R509H|SEMA6D_ENST00000558816.1_Missense_Mutation_p.R509H|SEMA6D_ENST00000355997.3_Missense_Mutation_p.R509H|SEMA6D_ENST00000537942.1_Missense_Mutation_p.R509H|SEMA6D_ENST00000389432.2_Missense_Mutation_p.R509H|SEMA6D_ENST00000389433.2_Missense_Mutation_p.R509H|SEMA6D_ENST00000358066.4_Missense_Mutation_p.R509H|SEMA6D_ENST00000389428.3_Missense_Mutation_p.R509H	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	509	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TGCATTATCCGCATCCCCCTC	0.443													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21058	0.0		0.0	False		,,,				2504	0.0					ENST00000316364.5											0			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77						c.(1525-1527)cGc>cAc	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4395	2.1+/-5.4	0,1,2197	228.0	206.0	213.0		1526,1526,1526,1526,1526,1526	5.9	1.0	15		213	0,8594		0,0,4297	no	missense,missense,missense,missense,missense,missense	SEMA6D	NM_001198999.1,NM_020858.1,NM_153616.1,NM_153617.1,NM_153618.1,NM_153619.1	29,29,29,29,29,29	0,1,6494	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign,benign,benign,benign	509/1012,509/1012,509/999,509/1018,509/1074,509/598	48058164	1,12989	2198	4297	6495	SO:0001583	missense	80031			axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48058164G>A	AF389430	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18			2006-09-18				ENSG00000137872		ENSG00000137872		"""Semaphorins"""	"""Semaphorins"""	16770	16770	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609295	609295						12110693, 14977921	12110693, 14977921	Standard	Standard	NM_020858	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	uc001zvy.3	Q8NFY4	Q8NFY4			ENST00000316364.5:c.1526G>A	15.37:g.48058164G>A	ENSP00000324857:p.Arg509His		SEMA6D_ENST00000354744.4_Missense_Mutation_p.R509H|SEMA6D_ENST00000558816.1_Missense_Mutation_p.R509H|SEMA6D_ENST00000537942.1_Missense_Mutation_p.R509H|SEMA6D_ENST00000536845.2_Missense_Mutation_p.R509H|SEMA6D_ENST00000355997.3_Missense_Mutation_p.R509H|SEMA6D_ENST00000358066.4_Missense_Mutation_p.R509H|SEMA6D_ENST00000558014.1_Missense_Mutation_p.R509H|SEMA6D_ENST00000389428.3_Missense_Mutation_p.R509H|SEMA6D_ENST00000389432.2_Missense_Mutation_p.R509H|SEMA6D_ENST00000389433.2_Missense_Mutation_p.R509H	p.R509H	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	14	1965	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	509	Sema.	A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	c.1526G>A	CCDS32225.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	17.14	3.312884	0.60414	2.27E-4	0.0	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428;ENST00000355997	T;T;T;T;T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83;1.83;1.83;1.83;1.83	5.88	5.88	0.94601	5.88	5.88	0.94601	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.000000	0.85682	D	0.000000	T	0.33000	0.0848	L	0.53671	1.685	0.80722	D	1	P;B;P;B;P	0.50710	0.867;0.006;0.938;0.016;0.692	B;B;B;B;B	0.43701	0.248;0.003;0.428;0.021;0.152	T	0.02837	-1.1104	10	0.48119	T	0.1	.	20.2284	0.98346	0.0:0.0:1.0:0.0	.	509;509;509;509;509	Q8NFY4-3;A6NM95;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;.;SEM6D_HUMAN;.	H	509	ENSP00000442040:R509H;ENSP00000446152:R509H;ENSP00000324857:R509H;ENSP00000374084:R509H;ENSP00000374083:R509H;ENSP00000346786:R509H;ENSP00000350770:R509H;ENSP00000374079:R509H;ENSP00000348276:R509H	ENSP00000324857:R509H	R	+	2	0	0	SEMA6D	45845456	45845456	1.000000	0.71417	0.995000	0.50966	0.851000	0.48451	6.736000	0.74811	2.785000	0.95823	0.650000	0.86243	CGC		0.443	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1		-14.786146	32	32	127	127	NM_024966		4	8.302435	8.302435	97	0.039604	0	0	0	1	0	4	97	0.039604
NIPBL	25836	broad.mit.edu	37	5	37064956	37064956	+	Nonsense_Mutation	SNP	C	C	T	rs398124474		TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr5:37064956C>T	ENST00000282516.8	+	47	8876	c.8377C>T	c.(8377-8379)Cga>Tga	p.R2793*		NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2793					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TCAGACTTTACGATCCCTGTA	0.363																																						ENST00000282516.8											0			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(8377-8379)Cga>Tga	Nipped-B homolog (Drosophila)						55.0	58.0	57.0					5																	37064956		2203	4300	6503	SO:0001587	stop_gained	25836			brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37064956C>T	AB019494	AB019494	CCDS3920.1, CCDS47198.1	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			2009-08-28			ENSG00000164190	ENSG00000164190	ENSG00000164190	ENSG00000164190				28862	28862	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	"""sister chromatid cohesion 2 homolog (yeast)"""	608667	608667						15146186, 15146185	15146186, 15146185	Standard	Standard	NM_133433	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	uc003jkl.4	Q6KC79	Q6KC79	OTTHUMG00000090795	OTTHUMG00000090795	ENST00000282516.8:c.8377C>T	5.37:g.37064956C>T	ENSP00000282516:p.Arg2793*			p.R2793*	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		47	8876	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		2793		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Nonsense_Mutation	SNP	ENST00000282516.8	37	c.8377C>T	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	C	50	16.830041	0.99873	.	.	ENSG00000164190	ENST00000282516	.	.	.	5.84	4.96	0.65561	5.84	4.96	0.65561	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.1816	16.0322	0.80585	0.1444:0.8556:0.0:0.0	.	.	.	.	X	2793	.	ENSP00000282516:R2793X	R	+	1	2	2	NIPBL	37100713	37100713	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.728000	0.68531	1.425000	0.47237	-0.274000	0.10170	CGA		0.363	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1		-5.820873	21	21	97	97	NM_015384		3	6.506929	6.506929	55	0.051724	0	0	0	1	0	3	55	0.051724
SF3B1	23451	broad.mit.edu	37	2	198267483	198267483	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr2:198267483C>T	ENST00000335508.6	-	14	1965	c.1874G>A	c.(1873-1875)cGt>cAt	p.R625H	SF3B1_ENST00000462613.1_5'Flank|SNORA4_ENST00000365564.1_RNA	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	625					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.R625L(9)|p.R625P(2)|p.R625H(1)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TGTTGTGTTACGGACATACTC	0.438			Mis		myelodysplastic syndrome																																	ENST00000335508.6		Dom	yes		2	2q33.1	23451	"""splicing factor 3b, subunit 1, 155kDa"""		L	12	Substitution - Missense(12)	haematopoietic_and_lymphoid_tissue(8)|urinary_tract(1)|salivary_gland(1)|central_nervous_system(1)|skin(1)	NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(1873-1875)cGt>cAt	splicing factor 3b, subunit 1, 155kDa						95.0	92.0	93.0					2																	198267483		2203	4300	6503	SO:0001583	missense	23451			nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198267483C>T	AF054284	AF054284	CCDS33356.1, CCDS46479.1	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524	ENSG00000115524	ENSG00000115524				10768	10768	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605590	605590	"""splicing factor 3b, subunit 1, 155kD"""		"""splicing factor 3b, subunit 1, 155kD"""			9585501	9585501	Standard	Standard	XM_005246428	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	uc002uue.3	O75533	O75533	OTTHUMG00000154447	OTTHUMG00000154447	ENST00000335508.6:c.1874G>A	2.37:g.198267483C>T	ENSP00000335321:p.Arg625His			p.R625H	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		14	1965	-					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.1874G>A	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	C	35	5.485860	0.96323	.	.	ENSG00000115524	ENST00000335508	T	0.74421	-0.84	5.82	5.82	0.92795	5.82	5.82	0.92795	Armadillo-like helical (1);Armadillo-type fold (1);	0.053241	0.64402	D	0.000001	D	0.91369	0.7277	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93329	0.6699	10	0.87932	D	0	.	20.0991	0.97865	0.0:1.0:0.0:0.0	.	625	O75533	SF3B1_HUMAN	H	625	ENSP00000335321:R625H	ENSP00000335321:R625H	R	-	2	0	0	SF3B1	197975728	197975728	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.728000	0.84847	2.752000	0.94435	0.655000	0.94253	CGT		0.438	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2		61.284105	2	2	57	57			20	61.406337	61.406337	25	0.444444	0	0	0	1	0	20	25	0.444444
LAMA1	284217	broad.mit.edu	37	18	6985237	6985237	+	Splice_Site	SNP	T	T	A	rs573418350		TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr18:6985237T>A	ENST00000389658.3	-	39	5752	c.5659A>T	c.(5659-5661)Agt>Tgt	p.S1887C		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1887	Domain II and I.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TGTTCCTACCTGTACAGAACA	0.493																																						ENST00000389658.3											0			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(5659-5661)Agt>Tgt	laminin, alpha 1						181.0	149.0	160.0					18																	6985237		2203	4300	6503	SO:0001630	splice_region_variant	284217			axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6985237T>A	X58531	X58531	CCDS32787.1	CCDS32787.1	18p11.3	2013-03-01			2013-03-01			ENSG00000101680	ENSG00000101680	ENSG00000101680	ENSG00000101680		"""Laminins"""	"""Laminins"""	6481	6481	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			150320	150320		LAMA		LAMA		2591971	2591971	Standard	Standard	NM_005559	NM_005559		Approved		uc002knm.3	uc002knm.3	P25391	P25391	OTTHUMG00000133478	OTTHUMG00000133478	ENST00000389658.3:c.5660+1A>T	18.37:g.6985237T>A				p.S1887C	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			39	5752	-		Colorectal(10;0.172)	1887	Domain II and I.		Splice_Site	SNP	ENST00000389658.3	37	c.5659A>T	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	T	14.25	2.480247	0.44044	.	.	ENSG00000101680	ENST00000389658	T	0.20200	2.09	4.85	3.66	0.41972	4.85	3.66	0.41972	.	0.202178	0.48767	D	0.000178	T	0.35828	0.0945	L	0.56769	1.78	0.35060	D	0.761436	D	0.71674	0.998	P	0.60286	0.872	T	0.50634	-0.8805	10	0.62326	D	0.03	.	10.9662	0.47414	0.0:0.0:0.157:0.843	.	1887	P25391	LAMA1_HUMAN	C	1887	ENSP00000374309:S1887C	ENSP00000374309:S1887C	S	-	1	0	0	LAMA1	6975237	6975237	1.000000	0.71417	1.000000	0.80357	0.023000	0.10783	4.469000	0.60169	0.928000	0.37168	0.533000	0.62120	AGT		0.493	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1		242.333831	49	49	284	284	NM_005559	Missense_Mutation	77	244.388304	244.388304	120	0.390863	0	0	0	1	0	77	120	0.390863
ATXN1	6310	broad.mit.edu	37	6	16327258	16327258	+	Silent	SNP	G	G	C			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr6:16327258G>C	ENST00000244769.4	-	8	2220	c.1284C>G	c.(1282-1284)ctC>ctG	p.L428L	ATXN1_ENST00000436367.1_Silent_p.L428L	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	428					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				TGTGGGGTGAGAGCGCGTAGG	0.607																																						ENST00000244769.4											0			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44						c.(1282-1284)ctC>ctG	ataxin 1						135.0	142.0	140.0					6																	16327258		2203	4300	6503	SO:0001819	synonymous_variant	6310			cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	g.chr6:16327258G>C	X79204	X79204	CCDS34342.1	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788	ENSG00000124788	ENSG00000124788		"""Ataxins"""	"""Ataxins"""	10548	10548	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601556	601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	1582256	Standard	Standard	NM_000332	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	uc010jpi.3	P54253	P54253	OTTHUMG00000014303	OTTHUMG00000014303	ENST00000244769.4:c.1284C>G	6.37:g.16327258G>C			ATXN1_ENST00000436367.1_Silent_p.L428L	p.L428L	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN			8	2220	-	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)	428		Q17S02|Q9UJG2|Q9Y4J1	Silent	SNP	ENST00000244769.4	37	c.1284C>G	CCDS34342.1																																																																																									0.607	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3		124.631784	-38	-38	163	163	NM_000332		47	136.022087	136.022087	145	0.244792	0	0	0	1	0	47	145	0.244792
FAM187B	148109	broad.mit.edu	37	19	35719115	35719115	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr19:35719115G>A	ENST00000324675.3	-	1	517	c.469C>T	c.(469-471)Ccg>Tcg	p.P157S		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	157						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						CACTCGCCCGGCTCCTCACAG	0.607																																						ENST00000324675.3											0			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						c.(469-471)Ccg>Tcg	family with sequence similarity 187, member B						66.0	66.0	66.0					19																	35719115		2203	4300	6503	SO:0001583	missense	148109				integral to membrane		g.chr19:35719115G>A	AK098526	AK098526	CCDS12448.1	CCDS12448.1	19q13.12	2008-10-16	2008-10-16	2008-10-16	2008-10-16	2008-10-16	2008-10-16	ENSG00000177558	ENSG00000177558	ENSG00000177558	ENSG00000177558				26366	26366	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""transmembrane protein 162"""	TMEM162	"""transmembrane protein 162"""	TMEM162				Standard	Standard	NM_152481	NM_152481		Approved	FLJ25660	uc002nyk.1	uc002nyk.1	Q17R55	Q17R55	OTTHUMG00000164450	OTTHUMG00000164450	ENST00000324675.3:c.469C>T	19.37:g.35719115G>A	ENSP00000323355:p.Pro157Ser			p.P157S	NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN			1	517	-			157		Q8N7G6	Missense_Mutation	SNP	ENST00000324675.3	37	c.469C>T	CCDS12448.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.759151	0.49468	.	.	ENSG00000177558	ENST00000324675	T	0.22743	1.94	5.07	4.01	0.46588	5.07	4.01	0.46588	.	0.811537	0.10685	N	0.645876	T	0.36963	0.0986	L	0.45581	1.43	0.09310	N	1	D	0.67145	0.996	P	0.62813	0.907	T	0.14531	-1.0469	10	0.56958	D	0.05	-12.3117	11.7034	0.51583	0.0:0.1786:0.8214:0.0	.	157	Q17R55	F187B_HUMAN	S	157	ENSP00000323355:P157S	ENSP00000323355:P157S	P	-	1	0	0	FAM187B	40410955	40410955	0.335000	0.24748	0.001000	0.08648	0.010000	0.07245	3.102000	0.50291	1.214000	0.43395	0.655000	0.94253	CCG		0.607	FAM187B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378854.1		68.049015	21	21	87	87	NM_152481		22	68.049015	68.049015	22	0.500000	0	0	0	1	0	22	22	0.5
RTCA	8634	broad.mit.edu	37	1	100741270	100741270	+	Missense_Mutation	SNP	A	A	G			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr1:100741270A>G	ENST00000370128.4	+	7	900	c.731A>G	c.(730-732)aAt>aGt	p.N244S	RTCA_ENST00000260563.4_Missense_Mutation_p.N257S	NM_003729.3	NP_003720.1	O00442	RTCA_HUMAN	RNA 3'-terminal phosphate cyclase	244					RNA processing (GO:0006396)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA-3'-phosphate cyclase activity (GO:0003963)										GGCAATGGAAATGGAATAATG	0.363																																						ENST00000370128.4											0										c.(730-732)aAt>aGt	RNA 3'-terminal phosphate cyclase						94.0	97.0	96.0					1																	100741270		2203	4300	6503	SO:0001583	missense	8634			RNA processing	mitochondrion|nucleoplasm	ATP binding|protein binding|RNA binding|RNA-3'-phosphate cyclase activity	g.chr1:100741270A>G	Y11651	Y11651	CCDS768.1, CCDS44178.1	CCDS768.1, CCDS44178.1	1p13.3	2012-03-30	2012-03-30	2012-03-30	2012-03-30	2012-03-30	2012-03-30	ENSG00000137996	ENSG00000137996	ENSG00000137996	ENSG00000137996	6.5.1.4			17981	17981	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611286	611286	"""RTC domain containing 1"", ""RNA terminal phosphate cyclase domain 1"""	RTCD1	"""RTC domain containing 1"", ""RNA terminal phosphate cyclase domain 1"""	RTCD1		9184239	9184239	Standard	Standard	NM_003729	NM_003729		Approved	RPC, RTC1	uc001dtd.3	uc001dtd.3	O00442	O00442	OTTHUMG00000010920	OTTHUMG00000010920	ENST00000370128.4:c.731A>G	1.37:g.100741270A>G	ENSP00000359146:p.Asn244Ser		RTCA_ENST00000260563.4_Missense_Mutation_p.N257S	p.N244S	NM_003729.3	NP_003720.1	O00442	RTC1_HUMAN			7	900	+			244		Q5VVL5|Q5VVL6|Q96E99	Missense_Mutation	SNP	ENST00000370128.4	37	c.731A>G	CCDS768.1	.	.	.	.	.	.	.	.	.	.	A	0.493	-0.874326	0.02550	.	.	ENSG00000137996	ENST00000370128;ENST00000260563	.	.	.	5.23	0.354	0.16063	5.23	0.354	0.16063	-terminal phosphate cyclase, subset, insert domain (2);-terminal phosphate cyclase, insert domain (1);-terminal phosphate cyclase domain (1);RNA 3&apos (5);-terminal phosphate cyclase (1);	0.190054	0.56097	N	0.000033	T	0.03827	0.0108	N	0.00256	-1.76	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.29119	-1.0022	9	0.19590	T	0.45	-8.0717	7.6287	0.28226	0.3542:0.1466:0.4992:0.0	.	257;244	O00442-2;O00442	.;RTC1_HUMAN	S	244;257	.	ENSP00000260563:N257S	N	+	2	0	0	RTCD1	100513858	100513858	1.000000	0.71417	0.732000	0.30844	0.772000	0.43724	0.838000	0.27572	-0.181000	0.10619	-0.250000	0.11733	AAT		0.363	RTCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030098.2		127.649095	1	1	100	100			38	127.673728	127.673728	41	0.481013	0	0	0	1	0	38	41	0.481013
CHST15	51363	broad.mit.edu	37	10	125805512	125805512	+	Missense_Mutation	SNP	G	G	A	rs145631200		TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr10:125805512G>A	ENST00000346248.5	-	2	859	c.217C>T	c.(217-219)Cgc>Tgc	p.R73C	CHST15_ENST00000421115.1_Missense_Mutation_p.R73C|CHST15_ENST00000462406.1_5'Flank|CHST15_ENST00000435907.1_Missense_Mutation_p.R73C	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	73					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TTTTTGAAGCGCAAAAACCCA	0.453													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20352	0.0		0.0	False		,,,				2504	0.0					ENST00000346248.5											0			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						c.(217-219)Cgc>Tgc	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	G	CYS/ARG,CYS/ARG	3,4403	6.2+/-15.9	0,3,2200	85.0	75.0	79.0		217,217	4.8	1.0	10	dbSNP_134	79	0,8600		0,0,4300	yes	missense,missense	CHST15	NM_014863.2,NM_015892.3	180,180	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign,benign	73/507,73/562	125805512	3,13003	2203	4300	6503	SO:0001583	missense	51363			hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity	g.chr10:125805512G>A	AB011170	AB011170	CCDS7638.1	CCDS7638.1	10q26	2009-07-09			2009-07-09			ENSG00000182022	ENSG00000182022	ENSG00000182022	ENSG00000182022	2.8.2.33	"""Sulfotransferases, membrane-bound"""	"""Sulfotransferases, membrane-bound"""	18137	18137	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""B cell RAG associated protein"", ""N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"""	"""B cell RAG associated protein"", ""N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"""	608277	608277						9628581, 9754571, 11572857	9628581, 9754571, 11572857	Standard	Standard	NM_014863	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	uc001lhm.4	Q7LFX5	Q7LFX5	OTTHUMG00000019208	OTTHUMG00000019208	ENST00000346248.5:c.217C>T	10.37:g.125805512G>A	ENSP00000333947:p.Arg73Cys		CHST15_ENST00000421115.1_Missense_Mutation_p.R73C|CHST15_ENST00000435907.1_Missense_Mutation_p.R73C	p.R73C	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN			2	859	-			73		O60338|O60474|Q86VM4	Missense_Mutation	SNP	ENST00000346248.5	37	c.217C>T	CCDS7638.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	7.620	0.676663	0.14841	6.81E-4	0.0	ENSG00000182022	ENST00000346248;ENST00000435907;ENST00000434607;ENST00000546346;ENST00000421115	.	.	.	5.67	4.77	0.60923	5.67	4.77	0.60923	.	0.253960	0.41294	N	0.000904	T	0.20740	0.0499	N	0.04508	-0.205	0.31534	N	0.660833	B;B	0.25007	0.116;0.071	B;B	0.19391	0.025;0.011	T	0.13469	-1.0508	9	0.44086	T	0.13	-28.6264	9.5674	0.39407	0.1996:0.0:0.8004:0.0	.	73;73	Q7LFX5-2;Q7LFX5	.;CHSTF_HUMAN	C	73	.	ENSP00000333947:R73C	R	-	1	0	0	CHST15	125795502	125795502	0.905000	0.30787	0.951000	0.38953	0.262000	0.26303	1.908000	0.39907	1.415000	0.47037	-0.219000	0.12488	CGC		0.453	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050856.1		-10.733289	-12	-12	92	92	NM_015892		3	6.364739	6.364739	72	0.040000	0	0	0	1	0	3	72	0.04
SLC28A3	64078	broad.mit.edu	37	9	86894188	86894188	+	Silent	SNP	C	C	A			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr9:86894188C>A	ENST00000376238.4	-	17	1990	c.1941G>T	c.(1939-1941)ctG>ctT	p.L647L	RP11-380F14.2_ENST00000419815.1_RNA|SLC28A3_ENST00000537648.1_Silent_p.L578L	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	647					pyrimidine nucleoside transport (GO:0015864)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|purine-specific nucleoside:sodium symporter activity (GO:0015390)|pyrimidine- and adenine-specific:sodium symporter activity (GO:0015389)			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31					Adenosine(DB00640)|Cladribine(DB00242)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Ribavirin(DB00811)	ACCTGCTCAACAGACTTTGGC	0.348																																					Ovarian(106;425 1539 34835 42413 43572)	ENST00000376238.4											0			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(1939-1941)ctG>ctT	solute carrier family 28 (concentrative nucleoside transporter), member 3						131.0	113.0	119.0					9																	86894188		2203	4300	6503	SO:0001819	synonymous_variant	64078			nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding	g.chr9:86894188C>A	AF305210	AF305210	CCDS6670.1	CCDS6670.1	9q21.33	2013-07-17	2013-07-17		2013-07-17	2013-07-17		ENSG00000197506	ENSG00000197506	ENSG00000197506	ENSG00000197506		"""Solute carriers"""	"""Solute carriers"""	16484	16484	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608269	608269	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 3"""		"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 3"""			11032837	11032837	Standard	Standard	NM_001199633	NM_001199633		Approved	CNT3	uc010mpz.3	uc010mpz.3	Q9HAS3	Q9HAS3	OTTHUMG00000020117	OTTHUMG00000020117	ENST00000376238.4:c.1941G>T	9.37:g.86894188C>A			RP11-380F14.2_ENST00000419815.1_RNA|SLC28A3_ENST00000537648.1_Silent_p.L578L	p.L647L	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN			17	1990	-			647		A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3	Silent	SNP	ENST00000376238.4	37	c.1941G>T	CCDS6670.1																																																																																									0.348	SLC28A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052874.1		58.815122	23	23	96	96	NM_022127		19	59.270906	59.270906	29	0.395833	1	0	1.56452e-12	1	1.61342e-12	19	29	0.395833
ZNF335	63925	broad.mit.edu	37	20	44579207	44579207	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr20:44579207G>A	ENST00000322927.2	-	21	3317	c.3217C>T	c.(3217-3219)Cgg>Tgg	p.R1073W	ZNF335_ENST00000426788.1_Missense_Mutation_p.R918W	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	1073					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				TGGTGGGGCCGTAGGCTTGAG	0.582																																						ENST00000322927.2											0			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.(3217-3219)Cgg>Tgg	zinc finger protein 335						132.0	143.0	140.0					20																	44579207		2203	4300	6503	SO:0001583	missense	63925			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:44579207G>A	AK026157	AK026157	CCDS13389.1	CCDS13389.1	20q13.12	2011-09-12			2011-09-12			ENSG00000198026	ENSG00000198026	ENSG00000198026	ENSG00000198026		"""Zinc fingers, C2H2-type"""	"""Zinc fingers, C2H2-type"""	15807	15807	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""NRC-interacting factor 1"""	"""NRC-interacting factor 1"""	610827	610827						12215545, 19131338	12215545, 19131338	Standard	Standard	NM_022095	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	uc002xqw.3	Q9H4Z2	Q9H4Z2	OTTHUMG00000032637	OTTHUMG00000032637	ENST00000322927.2:c.3217C>T	20.37:g.44579207G>A	ENSP00000325326:p.Arg1073Trp		ZNF335_ENST00000426788.1_Missense_Mutation_p.R918W	p.R1073W	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN			21	3317	-		Myeloproliferative disorder(115;0.0122)	1073		B4DLG7|Q548D0|Q9H684	Missense_Mutation	SNP	ENST00000322927.2	37	c.3217C>T	CCDS13389.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.618895	0.66787	.	.	ENSG00000198026	ENST00000322927;ENST00000243961;ENST00000426788	T;T	0.17854	2.25;2.25	4.82	3.85	0.44370	4.82	3.85	0.44370	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.50154	0.1599	M	0.93016	3.37	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.63829	-0.6548	10	0.87932	D	0	-33.4049	13.4975	0.61434	0.0:0.0:0.8375:0.1625	.	918;1073	Q9H4Z2-2;Q9H4Z2	.;ZN335_HUMAN	W	1073;850;918	ENSP00000325326:R1073W;ENSP00000397098:R918W	ENSP00000243961:R850W	R	-	1	2	2	ZNF335	44012614	44012614	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	4.921000	0.63397	1.341000	0.45600	0.563000	0.77884	CGG		0.582	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1		-26.823814	30	30	221	221	NM_022095		4	6.32796	6.327960	132	0.029412	0	0	0	1	0	4	132	0.029412
SORL1	6653	broad.mit.edu	37	11	121429472	121429472	+	Missense_Mutation	SNP	A	A	T			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr11:121429472A>T	ENST00000260197.7	+	20	2965	c.2836A>T	c.(2836-2838)Atc>Ttc	p.I946F		NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	946					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CATAGAGCGGATCACGTTCAG	0.547																																						ENST00000260197.7											0			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91						c.(2836-2838)Atc>Ttc	sortilin-related receptor, L(DLR class) A repeats containing						204.0	158.0	174.0					11																	121429472		2203	4299	6502	SO:0001583	missense	6653			cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121429472A>T	Y08110	Y08110	CCDS8436.1	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642	ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	"""Fibronectin type III domain containing"""	11185	11185	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	"""LDLR relative with 11 ligand-binding repeats"""	602005	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	9157966, 8940146	Standard	Standard	NM_003105	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	uc001pxx.3	Q92673	Q92673	OTTHUMG00000166057	OTTHUMG00000166057	ENST00000260197.7:c.2836A>T	11.37:g.121429472A>T	ENSP00000260197:p.Ile946Phe			p.I946F	NM_003105.5	NP_003096	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	20	2965	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	946		B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	c.2836A>T	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	A	14.44	2.535708	0.45176	.	.	ENSG00000137642	ENST00000260197	D	0.90844	-2.74	5.53	1.72	0.24424	5.53	1.72	0.24424	Six-bladed beta-propeller, TolB-like (1);	0.620996	0.17025	N	0.189966	D	0.90038	0.6889	M	0.86953	2.85	0.80722	D	1	B	0.23735	0.09	B	0.23574	0.047	D	0.85774	0.1357	10	0.59425	D	0.04	.	7.8776	0.29603	0.5602:0.0:0.4398:0.0	.	946	Q92673	SORL_HUMAN	F	946	ENSP00000260197:I946F	ENSP00000260197:I946F	I	+	1	0	0	SORL1	120934682	120934682	0.997000	0.39634	0.058000	0.19502	0.779000	0.44077	2.240000	0.43088	0.307000	0.22880	0.533000	0.62120	ATC		0.547	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2		65.268417	18	18	93	93	NM_003105		24	67.298587	67.298587	50	0.324324	0	0	0	1	0	24	50	0.324324
FAM198B	51313	broad.mit.edu	37	4	159076823	159076823	+	Silent	SNP	A	A	G			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr4:159076823A>G	ENST00000296530.8	-	3	1686	c.1065T>C	c.(1063-1065)ggT>ggC	p.G355G	FAM198B_ENST00000393807.5_Silent_p.G363G|FAM198B_ENST00000589306.1_5'UTR|FAM198B_ENST00000585682.1_Silent_p.G355G	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	355						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						TTTCAGTACAACCCGATTCAG	0.418																																						ENST00000296530.8											0			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						c.(1063-1065)ggT>ggC	family with sequence similarity 198, member B						115.0	93.0	101.0					4																	159076823		2203	4299	6502	SO:0001819	synonymous_variant	51313				Golgi membrane|integral to membrane		g.chr4:159076823A>G			CCDS3798.1, CCDS34087.1	CCDS3798.1, CCDS34087.1	4q32.1	2012-11-29	2009-10-19	2009-10-19	2012-11-29	2009-10-19	2009-10-19	ENSG00000164125	ENSG00000164125	ENSG00000164125	ENSG00000164125				25312	25312	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""chromosome 4 open reading frame 18"""	C4orf18	"""chromosome 4 open reading frame 18"""	C4orf18		12975309	12975309	Standard	Standard	NM_001031700	NM_001031700		Approved	FLJ38155, DKFZp434L142	uc003ipr.4	uc003ipr.4	Q6UWH4	Q6UWH4	OTTHUMG00000161537	OTTHUMG00000161537	ENST00000296530.8:c.1065T>C	4.37:g.159076823A>G			FAM198B_ENST00000585682.1_Silent_p.G355G|FAM198B_ENST00000589306.1_5'UTR|FAM198B_ENST00000393807.5_Silent_p.G363G	p.G355G	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN			3	1686	-			355		Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	Silent	SNP	ENST00000296530.8	37	c.1065T>C	CCDS3798.1																																																																																									0.418	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365230.1		83.169119	-2	-2	69	69	NM_001031700, NM_016613		25	83.409099	83.409099	33	0.431034	0	0	0	1	0	25	33	0.431034
TRIM15	89870	broad.mit.edu	37	6	30135042	30135042	+	Silent	SNP	G	G	A			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr6:30135042G>A	ENST00000376694.4	+	2	940	c.471G>A	c.(469-471)gtG>gtA	p.V157V	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	157					innate immune response (GO:0045087)|mesodermal cell fate determination (GO:0007500)|negative regulation of intracellular transport of viral material (GO:1901253)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						AGCTTCAAGTGCTGCTGGTAC	0.502																																						ENST00000376694.4											0			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						c.(469-471)gtG>gtA	tripartite motif containing 15						116.0	97.0	104.0					6																	30135042		1511	2709	4220	SO:0001819	synonymous_variant	89870			mesodermal cell fate determination	intracellular	zinc ion binding	g.chr6:30135042G>A	AF220132, U34249	AF220132, U34249	CCDS4677.1	CCDS4677.1	6p21.33	2013-01-09	2011-01-25		2013-01-09	2011-01-25		ENSG00000204610	ENSG00000204610	ENSG00000204610	ENSG00000204610		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16284	16284	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""zinc finger protein 178"", ""tripartite motif-containing 15"""	ZNF178	"""zinc finger protein 178"", ""tripartite motif-containing 15"""	ZNF178		11331580, 8304341, 8812418	11331580, 8304341, 8812418	Standard	Standard	NM_033229	NM_033229		Approved	ZNFB7, RNF93	uc010jrx.3	uc010jrx.3	Q9C019	Q9C019	OTTHUMG00000031031	OTTHUMG00000031031	ENST00000376694.4:c.471G>A	6.37:g.30135042G>A			TRIM15_ENST00000376688.1_Intron	p.V157V	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN			2	940	+			157		A2BEC9|O95604|Q8IUX9|Q9C018	Silent	SNP	ENST00000376694.4	37	c.471G>A	CCDS4677.1																																																																																									0.502	TRIM15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076026.2		297.467262	-8	-8	74	74	NM_033229		91	301.892533	301.892533	40	0.694656	0	0	0	1	0	91	40	0.694656
DNAJB6	10049	broad.mit.edu	37	7	157177640	157177656	+	Frame_Shift_Del	DEL	CAACTTCAAATCGATAT	CAACTTCAAATCGATAT	-	rs145897776		TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr7:157177640_157177656delCAACTTCAAATCGATAT	ENST00000262177.4	+	7	763_779	c.558_574delCAACTTCAAATCGATAT	c.(556-576)ggcaacttcaaatcgatatcafs	p.NFKSIS187fs	DNAJB6_ENST00000429029.2_Frame_Shift_Del_p.NFKSIS187fs|DNAJB6_ENST00000452797.2_Frame_Shift_Del_p.NFKSIS138fs|DNAJB6_ENST00000443280.1_Intron	NM_058246.3	NP_490647.1	O75190	DNJB6_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 6	187	Interaction with KRT18.|Ser-rich.				intermediate filament organization (GO:0045109)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	ATPase activator activity (GO:0001671)|chaperone binding (GO:0051087)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)	p.S190S(1)		central_nervous_system(1)|lung(1)|ovary(2)|stomach(1)	5	all_neural(206;0.181)	all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196)	OV - Ovarian serous cystadenocarcinoma(82;0.00399)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		GTGGCATGGGCAACTTCAAATCGATATCAACTTCAAC	0.396																																					Esophageal Squamous(46;195 967 1350 20350 43814)	ENST00000262177.4											1	Substitution - coding silent(1)	ovary(1)	central_nervous_system(1)|lung(1)|ovary(2)|stomach(1)	5						c.(556-576)ggcaacttcaaatcgatatcafs	DnaJ (Hsp40) homolog, subfamily B, member 6																																			SO:0001589	frameshift_variant	10049			intermediate filament organization|negative regulation of caspase activity|protein folding|response to unfolded protein	nucleus|perinuclear region of cytoplasm	ATPase activator activity|chaperone binding|heat shock protein binding|unfolded protein binding	g.chr7:157177640_157177656delCAACTTCAAATCGATAT	AB014888	AB014888	CCDS5946.1, CCDS47755.1	CCDS5946.1, CCDS47755.1	7q36.3	2014-02-03			2014-02-03			ENSG00000105993	ENSG00000105993	ENSG00000105993	ENSG00000105993		"""Heat shock proteins / DNAJ (HSP40)"""	"""Heat shock proteins / DNAJ (HSP40)"""	14888	14888	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611332	611332	"""limb girdle muscular dystrophy 1D (autosomal dominant)"""	LGMD1D	"""limb girdle muscular dystrophy 1D (autosomal dominant)"""	LGMD1D		10319584, 9915854, 22366786	10319584, 9915854, 22366786	Standard	Standard	NM_005494	NM_005494		Approved	MRJ	uc003wnk.3	uc003wnk.3	O75190	O75190	OTTHUMG00000157242	OTTHUMG00000157242	ENST00000262177.4:c.558_574delCAACTTCAAATCGATAT	7.37:g.157177640_157177656delCAACTTCAAATCGATAT	ENSP00000262177:p.Asn187fs		DNAJB6_ENST00000429029.2_Frame_Shift_Del_p.NFKSIS187fs|DNAJB6_ENST00000443280.1_Intron|DNAJB6_ENST00000452797.2_Frame_Shift_Del_p.NFKSIS138fs	p.NFKSIS187fs	NM_058246.3	NP_490647.1	O75190	DNJB6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00399)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)	7	763_779	+	all_neural(206;0.181)	all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196)	187	Interaction with KRT18.	A4D232|A8K7D8|A8KAG0|B4DN73|E9PCZ2|O95806|Q53EN8|Q59EF2|Q6FIC8|Q75MA2|Q9UIK6	Frame_Shift_Del	DEL	ENST00000262177.4	37	c.558_574delCAACTTCAAATCGATAT	CCDS5946.1																																																																																									0.396	DNAJB6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000348119.2	.	.	45	45	159	159			15			77	0.16						15	77	0.16
GNPTG	84572	broad.mit.edu	37	16	1402156	1402156	+	Frame_Shift_Del	DEL	T	T	-			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr16:1402156delT	ENST00000204679.4	+	2	149	c.106delT	c.(106-108)tttfs	p.F36fs	TSR3_ENST00000007390.2_5'Flank	NM_032520.4	NP_115909.1	Q9UJJ9	GNPTG_HUMAN	N-acetylglucosamine-1-phosphate transferase, gamma subunit	36					carbohydrate phosphorylation (GO:0046835)|N-glycan processing to lysosome (GO:0016256)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7		Hepatocellular(780;0.0893)				GCCCAACGCGTTTGGGTGAGC	0.726																																						ENST00000204679.4											0			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7						c.(106-108)tttfs	N-acetylglucosamine-1-phosphate transferase, gamma subunit						6.0	6.0	6.0					16																	1402156		2122	4153	6275	SO:0001589	frameshift_variant	84572				extracellular region|Golgi apparatus	protein binding	g.chr16:1402156delT	BC014592	BC014592	CCDS10436.1	CCDS10436.1	16p13.3	2009-04-17		2004-10-01	2009-04-17		2004-10-01	ENSG00000090581	ENSG00000090581	ENSG00000090581	ENSG00000090581				23026	23026	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""GlcNAc-phosphotransferase gamma-subunit"""	"""GlcNAc-phosphotransferase gamma-subunit"""	607838	607838	"""N-acetylglucosamine-1-phosphotransferase, gamma subunit"", ""chromosome 16 open reading frame 27"""	GNPTAG, C16orf27	"""N-acetylglucosamine-1-phosphotransferase, gamma subunit"", ""chromosome 16 open reading frame 27"""	GNPTAG, C16orf27		10712439	10712439	Standard	Standard	NM_032520	NM_032520		Approved	CAB56184, c316G12.3	uc002clm.3	uc002clm.3	Q9UJJ9	Q9UJJ9	OTTHUMG00000047835	OTTHUMG00000047835	ENST00000204679.4:c.106delT	16.37:g.1402156delT	ENSP00000204679:p.Phe36fs			p.F36fs	NM_032520.4	NP_115909.1	Q9UJJ9	GNPTG_HUMAN			2	149	+		Hepatocellular(780;0.0893)	36		B2R556|Q6XYD7|Q96L13	Frame_Shift_Del	DEL	ENST00000204679.4	37	c.106delT	CCDS10436.1																																																																																									0.726	GNPTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109058.2	.	.	2	2	10	10	NM_032520		2			4	0.33						2	4	0.33
HGFAC	3083	broad.mit.edu	37	4	3446075	3446075	+	Frame_Shift_Del	DEL	G	G	-			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr4:3446075delG	ENST00000382774.3	+	6	751	c.636delG	c.(634-636)gagfs	p.E212fs	HGFAC_ENST00000511533.1_Frame_Shift_Del_p.E212fs	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	212	Fibronectin type-I. {ECO:0000255|PROSITE- ProRule:PRU00478}.				proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		AGTACCTGGAGGGGGGCGACC	0.682																																						ENST00000382774.3											0			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						c.(634-636)gagfs	HGF activator						12.0	15.0	14.0					4																	3446075		2170	4280	6450	SO:0001589	frameshift_variant	3083			proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr4:3446075delG	D14012	D14012	CCDS3369.1, CCDS75098.1	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			2008-02-07			ENSG00000109758	ENSG00000109758	ENSG00000109758	ENSG00000109758	3.4.21.-			4894	4894	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604552	604552						7683665, 8226803	7683665, 8226803	Standard	Standard	XM_005247966	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	uc003ghc.3	Q04756	Q04756	OTTHUMG00000090281	OTTHUMG00000090281	ENST00000382774.3:c.636delG	4.37:g.3446075delG	ENSP00000372224:p.Glu212fs		HGFAC_ENST00000511533.1_Frame_Shift_Del_p.E212fs	p.E212fs	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	6	751	+			212	Fibronectin type-I.	Q14726|Q2M1W7|Q53X47	Frame_Shift_Del	DEL	ENST00000382774.3	37	c.636delG	CCDS3369.1																																																																																									0.682	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3	.	.	3	3	7	7			2			4	0.33						2	4	0.33
