#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SLC51A	200931	broad.mit.edu	37	3	195955067	195955067	+	Silent	SNP	G	G	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:195955067G>T	ENST00000296327.5	+	5	653	c.444G>T	c.(442-444)ctG>ctT	p.L148L		NM_152672.5	NP_689885.4	Q86UW1	OSTA_HUMAN	solute carrier family 51, alpha subunit	148					bile acid and bile salt transport (GO:0015721)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)									Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)	TGAGGACGCTGAGGGACACCC	0.627																																						ENST00000296327.5																			0											c.(442-444)ctG>ctT		solute carrier family 51, alpha subunit							157.0	154.0	155.0					3																	195955067		2203	4300	6503	SO:0001819	synonymous_variant	200931							g.chr3:195955067G>T		CCDS3314.1	3q29	2013-05-22			ENSG00000163959	ENSG00000163959		"""Solute carriers"""	29955	protein-coding gene	gene with protein product	"""organic solute transporter, alpha subunit"""	612084				12719432, 20538072	Standard	NM_152672		Approved	OSTalpha	uc003fwd.3	Q86UW1	OTTHUMG00000155684	ENST00000296327.5:c.444G>T	3.37:g.195955067G>T							p.L148L	NM_152672.5	NP_689885.4					5	653	+								Q6ZMC7	Silent	SNP	ENST00000296327.5	37	c.444G>T	CCDS3314.1	.	.	.	.	.	.	.	.	.	.	G	2.951	-0.216797	0.06101	.	.	ENSG00000163959	ENST00000428985	.	.	.	5.5	3.68	0.42216	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.3493	0.32292	0.1445:0.1305:0.725:0.0	.	.	.	.	L	161	.	.	X	+	2	2	AC069257.9	197439464	1.000000	0.71417	1.000000	0.80357	0.289000	0.27227	1.140000	0.31516	0.851000	0.35264	0.655000	0.94253	TGA		0.627	SLC51A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341253.1	NM_152672		6	206	1	0	0.217242	1	0.217595	6	206				
DDX39B	7919	broad.mit.edu	37	6	31508228	31508228	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:31508228C>A	ENST00000396172.1	-	2	712	c.82G>T	c.(82-84)Gag>Tag	p.E28*	DDX39B_ENST00000453105.2_Silent_p.L23L|ATP6V1G2-DDX39B_ENST00000475917.1_5'Flank|DDX39B_ENST00000417556.2_Nonsense_Mutation_p.E28*|DDX39B_ENST00000415382.2_Silent_p.L23L|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B-AS1_ENST00000420520.1_RNA|DDX39B_ENST00000449074.2_Nonsense_Mutation_p.E28*|DDX39B-AS1_ENST00000416684.1_RNA|DDX39B_ENST00000376177.2_Nonsense_Mutation_p.E28*|DDX39B_ENST00000458640.1_Nonsense_Mutation_p.E28*|SNORD84_ENST00000584275.1_RNA	NM_004640.6	NP_004631.1	Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	28					ATP catabolic process (GO:0006200)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|RNA secondary structure unwinding (GO:0010501)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|transcription export complex (GO:0000346)	ATP binding (GO:0005524)|ATP-dependent protein binding (GO:0043008)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)|RNA-dependent ATPase activity (GO:0008186)|U4 snRNA binding (GO:0030621)|U6 snRNA binding (GO:0017070)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						GCAGGGGCCTCAGCCCCATCT	0.567																																						ENST00000417556.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(82-84)Gag>Tag		DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B							85.0	80.0	82.0					6																	31508228		2203	4300	6503	SO:0001587	stop_gained	7919				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding	g.chr6:31508228C>A	Z37166	CCDS4697.1	6p21.33	2011-02-09	2011-02-08	2011-02-08	ENSG00000198563	ENSG00000198563		"""DEAD-boxes"""	13917	protein-coding gene	gene with protein product	"""U2AF65-associated protein 56"""	142560	"""HLA-B associated transcript 1"""	BAT1		7601445, 2813433	Standard	NM_004640		Approved	D6S81E, UAP56	uc003ntu.3	Q13838	OTTHUMG00000031165	ENST00000396172.1:c.82G>T	6.37:g.31508228C>A	ENSP00000379475:p.Glu28*					DDX39B_ENST00000415382.2_Silent_p.L23L|DDX39B_ENST00000396172.1_Nonsense_Mutation_p.E28*|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000376177.2_Nonsense_Mutation_p.E28*|DDX39B_ENST00000453105.2_Silent_p.L23L|DDX39B_ENST00000449074.2_Nonsense_Mutation_p.E28*|DDX39B_ENST00000458640.1_Nonsense_Mutation_p.E28*	p.E28*			Q13838	DX39B_HUMAN			2	712	-			28					B0S8C0|O43496|Q0EFA1|Q2L6F9|Q53GL9|Q5RJ64|Q5RJ66|Q5ST94|Q5STB4|Q5STB5|Q5STB7|Q5STB8|Q5STU4|Q5STU5|Q5STU6|Q5STU8|Q71V76	Nonsense_Mutation	SNP	ENST00000396172.1	37	c.82G>T	CCDS4697.1	.	.	.	.	.	.	.	.	.	.	C	43	10.332864	0.99384	.	.	ENSG00000198563	ENST00000376177;ENST00000458640;ENST00000396172;ENST00000417556;ENST00000427214;ENST00000428098;ENST00000419338;ENST00000456662;ENST00000449074;ENST00000428450;ENST00000449757;ENST00000456976;ENST00000418897;ENST00000419020;ENST00000458215	.	.	.	5.53	5.53	0.82687	.	0.216072	0.40144	N	0.001172	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-24.0413	16.951	0.86245	0.0:1.0:0.0:0.0	.	.	.	.	X	28;28;28;28;28;28;28;28;28;28;51;28;43;28;28	.	ENSP00000365347:E28X	E	-	1	0	DDX39B	31616207	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	5.508000	0.67006	2.592000	0.87571	0.563000	0.77884	GAG		0.567	DDX39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259083.1	NM_004640		31	93	1	0	1.36615e-20	1	1.48683e-20	31	93				
RAD52	5893	broad.mit.edu	37	12	1025635	1025635	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:1025635G>C	ENST00000358495.3	-	9	878	c.740C>G	c.(739-741)tCc>tGc	p.S247C	RAD52_ENST00000536177.1_Missense_Mutation_p.I264M|RAD52_ENST00000430095.2_Missense_Mutation_p.S247C|RAD52_ENST00000539046.1_Missense_Mutation_p.S170C|RAD52_ENST00000535376.1_5'UTR	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	247	Mediates interaction with RPA2.				DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			CTCCACGGCGGATGAGCTCAG	0.682								Homologous recombination																														ENST00000358495.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(739-741)tCc>tGc	Homologous recombination	RAD52 homolog (S. cerevisiae)							16.0	19.0	18.0					12																	1025635		2056	4194	6250	SO:0001583	missense	5893				DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding	g.chr12:1025635G>C		CCDS8507.2	12p13-p12.2	2008-08-05	2001-11-28		ENSG00000002016	ENSG00000002016			9824	protein-coding gene	gene with protein product		600392	"""RAD52 (S. cerevisiae) homolog"""			7774919, 18313388	Standard	XM_005253721		Approved		uc001qis.1	P43351	OTTHUMG00000090361	ENST00000358495.3:c.740C>G	12.37:g.1025635G>C	ENSP00000351284:p.Ser247Cys					RAD52_ENST00000536177.1_Missense_Mutation_p.I264M|RAD52_ENST00000430095.2_Missense_Mutation_p.S247C|RAD52_ENST00000535376.1_5'UTR|RAD52_ENST00000539046.1_Missense_Mutation_p.S170C	p.S247C	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)		9	878	-	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		247					Q13205|Q9Y5T7|Q9Y5T8|Q9Y5T9	Missense_Mutation	SNP	ENST00000358495.3	37	c.740C>G	CCDS8507.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.892|5.892	0.348731|0.348731	0.11126|0.11126	.|.	.|.	ENSG00000002016|ENSG00000002016	ENST00000536177|ENST00000358495;ENST00000430095;ENST00000539046	T|T;T;T	0.31510|0.33438	1.49|1.82;1.82;1.41	2.85|2.85	-0.279|-0.279	0.12890|0.12890	.|.	.|1.465560	.|0.03833	.|N	.|0.269359	T|T	0.19765|0.19765	0.0475|0.0475	N|N	0.17082|0.17082	0.46|0.46	0.09310|0.09310	N|N	1|1	B|B	0.32717|0.06786	0.381|0.001	B|B	0.24974|0.06405	0.057|0.002	T|T	0.22906|0.22906	-1.0203|-1.0203	9|10	0.24483|0.37606	T|T	0.36|0.19	-20.7587|-20.7587	6.7226|6.7226	0.23338|0.23338	0.1167:0.5654:0.3179:0.0|0.1167:0.5654:0.3179:0.0	.|.	264|247	F5GX32|P43351	.|RAD52_HUMAN	M|C	264|247;247;170	ENSP00000440486:I264M|ENSP00000351284:S247C;ENSP00000387901:S247C;ENSP00000445245:S170C	ENSP00000440486:I264M|ENSP00000351284:S247C	I|S	-|-	3|2	3|0	RAD52|RAD52	895896|895896	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.007000|0.007000	0.05969|0.05969	0.289000|0.289000	0.18957|0.18957	-0.053000|-0.053000	0.13289|0.13289	0.561000|0.561000	0.74099|0.74099	ATC|TCC		0.682	RAD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206733.2	NM_134424		11	18	0	0	0	1	0	11	18				
TACC1	6867	broad.mit.edu	37	8	38693803	38693803	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr8:38693803G>C	ENST00000317827.4	+	7	2216	c.1837G>C	c.(1837-1839)Gag>Cag	p.E613Q	TACC1_ENST00000520340.1_Missense_Mutation_p.E548Q|TACC1_ENST00000519416.1_Missense_Mutation_p.E417Q|TACC1_ENST00000443286.2_Missense_Mutation_p.E600Q|TACC1_ENST00000379931.3_Missense_Mutation_p.E625Q|TACC1_ENST00000522752.1_3'UTR|TACC1_ENST00000348567.4_Missense_Mutation_p.E175Q|TACC1_ENST00000520973.1_Missense_Mutation_p.E389Q|TACC1_ENST00000276520.8_Missense_Mutation_p.E203Q|TACC1_ENST00000520615.1_Missense_Mutation_p.E418Q|TACC1_ENST00000518415.1_Missense_Mutation_p.E539Q|TACC1_ENST00000330691.6_Missense_Mutation_p.E187Q|TACC1_ENST00000520611.1_Missense_Mutation_p.E51Q	NM_006283.2	NP_006274.2	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	613					cell cycle (GO:0007049)|cell division (GO:0051301)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			AATAAGAGAAGAGGTAAAAGC	0.507																																						ENST00000379931.3																			0				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17						c.(1873-1875)Gag>Cag		transforming, acidic coiled-coil containing protein 1							83.0	89.0	87.0					8																	38693803		2203	4300	6503	SO:0001583	missense	6867				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding	g.chr8:38693803G>C	AF049910	CCDS6109.1, CCDS47845.1, CCDS55224.1	8p11	2012-12-20			ENSG00000147526	ENSG00000147526			11522	protein-coding gene	gene with protein product		605301					Standard	NM_006283		Approved		uc010lwp.3	O75410	OTTHUMG00000164018	ENST00000317827.4:c.1837G>C	8.37:g.38693803G>C	ENSP00000321703:p.Glu613Gln					TACC1_ENST00000520973.1_Missense_Mutation_p.E389Q|TACC1_ENST00000518415.1_Missense_Mutation_p.E539Q|TACC1_ENST00000520615.1_Missense_Mutation_p.E418Q|TACC1_ENST00000348567.4_Missense_Mutation_p.E175Q|TACC1_ENST00000276520.8_Missense_Mutation_p.E203Q|TACC1_ENST00000519416.1_Missense_Mutation_p.E417Q|TACC1_ENST00000317827.4_Missense_Mutation_p.E613Q|TACC1_ENST00000330691.6_Missense_Mutation_p.E187Q|TACC1_ENST00000520611.1_Missense_Mutation_p.E51Q|TACC1_ENST00000520340.1_Missense_Mutation_p.E548Q|TACC1_ENST00000522752.1_3'UTR|TACC1_ENST00000443286.2_Missense_Mutation_p.E600Q	p.E625Q			O75410	TACC1_HUMAN	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)		8	2252	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	613					B2RBD9|D3DSX6|Q6Y687|Q86YG7|Q8IUJ2|Q8IUJ3|Q8IUJ4|Q8IZG2|Q8NEY7|Q9UPP9	Missense_Mutation	SNP	ENST00000317827.4	37	c.1873G>C	CCDS6109.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.064873|5.064873	0.93898|0.93898	.|.	.|.	ENSG00000147526|ENSG00000147526	ENST00000519416;ENST00000520615;ENST00000443388;ENST00000443286;ENST00000518415;ENST00000522904;ENST00000330691;ENST00000348567;ENST00000317827;ENST00000379931;ENST00000276520;ENST00000520973;ENST00000520611|ENST00000521866;ENST00000518809	T;T;T;T;T;T;T;T;T;T;T;T|.	0.47177|.	0.85;0.85;0.85;0.85;1.56;0.85;0.85;0.85;0.85;0.85;0.85;0.85|.	4.91|4.91	4.91|4.91	0.64330|0.64330	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77438|0.77438	0.4130|0.4130	M|M	0.78049|0.78049	2.395|2.395	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D;D|.	0.89917|.	0.999;1.0;0.999;1.0;1.0;0.999;0.991;0.987;1.0|.	D;D;D;D;D;D;P;D;D|.	0.83275|.	0.992;0.996;0.996;0.983;0.993;0.978;0.881;0.944;0.996|.	T|T	0.78484|0.78484	-0.2186|-0.2186	10|5	0.54805|.	T|.	0.06|.	-16.2735|-16.2735	18.4517|18.4517	0.90705|0.90705	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	389;389;600;625;613;175;203;417;539|.	E7EVI4;B4DH49;B4E302;O75410-2;O75410;O75410-5;O75410-6;E7ET87;O75410-7|.	.;.;.;.;TACC1_HUMAN;.;.;.;.|.	Q|N	417;418;418;600;539;556;187;175;613;625;203;389;51|370;262	ENSP00000428687:E417Q;ENSP00000428450:E418Q;ENSP00000393647:E600Q;ENSP00000428706:E539Q;ENSP00000430355:E556Q;ENSP00000332794:E187Q;ENSP00000327818:E175Q;ENSP00000321703:E613Q;ENSP00000369263:E625Q;ENSP00000276520:E203Q;ENSP00000430959:E389Q;ENSP00000429418:E51Q|.	ENSP00000276520:E203Q|.	E|K	+|+	1|3	0|2	TACC1|TACC1	38812960|38812960	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.872000|0.872000	0.50106|0.50106	9.076000|9.076000	0.94009|0.94009	2.421000|2.421000	0.82119|0.82119	0.460000|0.460000	0.39030|0.39030	GAG|AAG		0.507	TACC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376768.1	NM_006283		29	56	0	0	0	1	0	29	56				
PHF23	79142	broad.mit.edu	37	17	7139465	7139465	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:7139465C>G	ENST00000320316.3	-	4	1007	c.781G>C	c.(781-783)Gag>Cag	p.E261Q	DVL2_ENST00000005340.5_5'Flank|DVL2_ENST00000575458.1_5'Flank|PHF23_ENST00000454255.2_Missense_Mutation_p.E257Q|PHF23_ENST00000576955.1_Missense_Mutation_p.E131Q|PHF23_ENST00000570753.1_5'Flank|PHF23_ENST00000571362.1_Missense_Mutation_p.E194Q	NM_001284518.1|NM_024297.2	NP_001271447.1|NP_077273.2	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	261	Poly-Glu.						zinc ion binding (GO:0008270)			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						GTTGCCATCtcttcttcttct	0.622																																						ENST00000320316.3																			0				breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						c.(781-783)Gag>Cag		PHD finger protein 23							67.0	76.0	73.0					17																	7139465		2023	4195	6218	SO:0001583	missense	79142						zinc ion binding	g.chr17:7139465C>G	AK122791	CCDS42250.1, CCDS67143.1, CCDS67144.1	17p13.1	2014-08-13			ENSG00000040633	ENSG00000040633		"""Zinc fingers, PHD-type"""	28428	protein-coding gene	gene with protein product		612910					Standard	NM_024297		Approved	MGC2941, FLJ16355	uc002gfa.3	Q9BUL5	OTTHUMG00000177972	ENST00000320316.3:c.781G>C	17.37:g.7139465C>G	ENSP00000322579:p.Glu261Gln					PHF23_ENST00000571362.1_Missense_Mutation_p.E194Q|PHF23_ENST00000576955.1_Missense_Mutation_p.E131Q|PHF23_ENST00000454255.2_Missense_Mutation_p.E257Q	p.E261Q	NM_024297.2	NP_077273.2	Q9BUL5	PHF23_HUMAN			4	1007	-			261			Poly-Glu.		A1DZ74|B3KVH8|B4DLK6|D3DTN4|Q8IZK0|Q96HG7|Q9H5X0	Missense_Mutation	SNP	ENST00000320316.3	37	c.781G>C	CCDS42250.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.204093	0.38905	.	.	ENSG00000040633	ENST00000320316;ENST00000454255	T;T	0.31769	1.48;1.48	5.18	5.18	0.71444	.	0.000000	0.37136	N	0.002230	T	0.29061	0.0722	N	0.08118	0	0.32772	N	0.503645	B;D	0.76494	0.261;0.999	B;P	0.57911	0.075;0.829	T	0.33343	-0.9872	10	0.33141	T	0.24	-7.7967	14.1706	0.65508	0.0:1.0:0.0:0.0	.	194;261	B4DLK6;Q9BUL5	.;PHF23_HUMAN	Q	261;257	ENSP00000322579:E261Q;ENSP00000414607:E257Q	ENSP00000322579:E261Q	E	-	1	0	PHF23	7080189	0.138000	0.22547	0.355000	0.25773	0.930000	0.56654	1.763000	0.38461	2.405000	0.81733	0.313000	0.20887	GAG		0.622	PHF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440047.1	NM_024297		33	102	0	0	0	1	0	33	102				
ADCK5	203054	broad.mit.edu	37	8	145617171	145617171	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr8:145617171G>A	ENST00000308860.6	+	10	1089	c.1045G>A	c.(1045-1047)Gag>Aag	p.E349K	CPSF1_ENST00000531727.1_5'Flank|MIR939_ENST00000401314.1_RNA	NM_174922.3	NP_777582.4	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	349	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GGCCTTTGCTGAGCAGATATT	0.632																																						ENST00000308860.6																			0				endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8						c.(1045-1047)Gag>Aag		aarF domain containing kinase 5							75.0	77.0	76.0					8																	145617171		2203	4299	6502	SO:0001583	missense	203054					integral to membrane	protein serine/threonine kinase activity	g.chr8:145617171G>A	BC032402	CCDS34965.1, CCDS34965.2	8q24.3	2004-07-06			ENSG00000173137	ENSG00000173137			21738	protein-coding gene	gene with protein product							Standard	NM_174922		Approved	FLJ35454	uc003zch.3	Q3MIX3	OTTHUMG00000165190	ENST00000308860.6:c.1045G>A	8.37:g.145617171G>A	ENSP00000310547:p.Glu349Lys						p.E349K	NM_174922.3	NP_777582.3	Q3MIX3	ADCK5_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		10	1089	+	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		349			Protein kinase.		B3KS46|Q5U4P1|Q6P2S4|Q8N5V3	Missense_Mutation	SNP	ENST00000308860.6	37	c.1045G>A	CCDS34965.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.639263	0.87760	.	.	ENSG00000173137	ENST00000308860	T	0.34667	1.35	5.54	5.54	0.83059	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.40619	0.1124	L	0.41079	1.255	0.80722	D	1	P	0.43314	0.803	P	0.47162	0.54	T	0.10543	-1.0625	10	0.42905	T	0.14	-43.6223	16.9685	0.86293	0.0:0.0:1.0:0.0	.	349	Q3MIX3	ADCK5_HUMAN	K	349	ENSP00000310547:E349K	ENSP00000310547:E349K	E	+	1	0	ADCK5	145587979	1.000000	0.71417	0.950000	0.38849	0.645000	0.38454	8.790000	0.91844	2.617000	0.88574	0.555000	0.69702	GAG		0.632	ADCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382556.2	NM_174922		43	76	0	0	0	1	0	43	76				
WSCD1	23302	broad.mit.edu	37	17	6021411	6021411	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:6021411G>A	ENST00000574946.1	+	8	1668	c.1278G>A	c.(1276-1278)ctG>ctA	p.L426L	WSCD1_ENST00000574232.1_Silent_p.L426L|WSCD1_ENST00000573634.1_Silent_p.L310L|WSCD1_ENST00000317744.5_Silent_p.L426L|WSCD1_ENST00000539421.1_Silent_p.L426L			Q658N2	WSCD1_HUMAN	WSC domain containing 1	426						integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						CAGCCATCCTGCTAATCCGGA	0.542																																						ENST00000574946.1																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						c.(1276-1278)ctG>ctA		WSC domain containing 1							76.0	72.0	73.0					17																	6021411		2203	4300	6503	SO:0001819	synonymous_variant	23302					integral to membrane	sulfotransferase activity	g.chr17:6021411G>A		CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314			29060	protein-coding gene	gene with protein product							Standard	XM_005256572		Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.1278G>A	17.37:g.6021411G>A						WSCD1_ENST00000539421.1_Silent_p.L426L|WSCD1_ENST00000574232.1_Silent_p.L426L|WSCD1_ENST00000573634.1_Silent_p.L310L|WSCD1_ENST00000317744.5_Silent_p.L426L	p.L426L			Q658N2	WSCD1_HUMAN			8	1668	+			426					A8K0N8|D3DTM3|O60276|Q96G45	Silent	SNP	ENST00000574946.1	37	c.1278G>A	CCDS32538.1																																																																																				0.542	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438965.4	NM_015253		16	46	0	0	0	1	0	16	46				
FAM171A1	221061	broad.mit.edu	37	10	15255015	15255015	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr10:15255015C>G	ENST00000378116.4	-	8	2578	c.2572G>C	c.(2572-2574)Gag>Cag	p.E858Q	FAM171A1_ENST00000477161.1_5'Flank	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	858						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TCCTCTTCCTCGTGGGCAGAT	0.592																																						ENST00000378116.4																			0				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						c.(2572-2574)Gag>Cag		family with sequence similarity 171, member A1							141.0	144.0	143.0					10																	15255015		2203	4300	6503	SO:0001583	missense	221061					integral to membrane		g.chr10:15255015C>G	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.2572G>C	10.37:g.15255015C>G	ENSP00000367356:p.Glu858Gln						p.E858Q	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN			8	2578	-			858					D3DRT9|Q32M49|Q8N4I0	Missense_Mutation	SNP	ENST00000378116.4	37	c.2572G>C	CCDS31154.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.828530	0.32329	.	.	ENSG00000148468	ENST00000378116;ENST00000396781	T	0.30448	1.53	5.1	4.19	0.49359	.	0.613897	0.16791	N	0.199376	T	0.19685	0.0473	N	0.14661	0.345	0.31812	N	0.627013	B	0.13145	0.007	B	0.11329	0.006	T	0.11179	-1.0598	10	0.35671	T	0.21	-14.8184	12.9235	0.58245	0.0:0.8366:0.1634:0.0	.	858	Q5VUB5	F1711_HUMAN	Q	858;857	ENSP00000367356:E858Q	ENSP00000367356:E858Q	E	-	1	0	FAM171A1	15295021	1.000000	0.71417	0.573000	0.28510	0.852000	0.48524	4.748000	0.62148	1.359000	0.45940	0.563000	0.77884	GAG		0.592	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		58	158	0	0	0	1	0	58	158				
RSAD1	55316	broad.mit.edu	37	17	48562221	48562221	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:48562221G>A	ENST00000258955.2	+	9	1413	c.1328G>A	c.(1327-1329)tGa>tAa	p.*443*		NM_018346.1	NP_060816.1	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing 1	0					porphyrin-containing compound biosynthetic process (GO:0006779)	mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|coproporphyrinogen oxidase activity (GO:0004109)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CCAGGAGGATGACAAAAATGT	0.582																																						ENST00000258955.2																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						c.(1327-1329)tGa>tAa		radical S-adenosyl methionine domain containing 1							52.0	56.0	55.0					17																	48562221		2203	4300	6503	SO:0001819	synonymous_variant	55316				porphyrin biosynthetic process	mitochondrion	4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding	g.chr17:48562221G>A	AK002026	CCDS11569.1	17q21.33	2004-11-08			ENSG00000136444	ENSG00000136444			25634	protein-coding gene	gene with protein product						12477932	Standard	NM_018346		Approved	FLJ11164	uc002iqw.1	Q9HA92	OTTHUMG00000162126	ENST00000258955.2:c.1328G>A	17.37:g.48562221G>A							p.*443*	NM_018346.1	NP_060816.1	Q9HA92	RSAD1_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.55e-09)		9	1413	+	Breast(11;1.93e-18)		0					B4DMW0|Q53HV8|Q86VC4|Q9BRY7|Q9NUS7	Silent	SNP	ENST00000258955.2	37	c.1328G>A	CCDS11569.1																																																																																				0.582	RSAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367413.1	NM_018346		10	16	0	0	0	1	0	10	16				
C6orf222	389384	broad.mit.edu	37	6	36291094	36291094	+	Missense_Mutation	SNP	G	G	A	rs193920980		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:36291094G>A	ENST00000437635.2	-	8	1624	c.1447C>T	c.(1447-1449)Cgg>Tgg	p.R483W		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	483								p.R483W(1)		breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						GTGGAGGGCCGATGGCCACCA	0.647																																						ENST00000437635.2																			1	Substitution - Missense(1)	p.R483W(1)	ovary(1)	breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						c.(1447-1449)Cgg>Tgg		chromosome 6 open reading frame 222							66.0	75.0	72.0					6																	36291094		2203	4300	6503	SO:0001583	missense	389384							g.chr6:36291094G>A		CCDS34439.1	6p21.31	2012-02-22			ENSG00000189325	ENSG00000189325			33769	protein-coding gene	gene with protein product							Standard	NM_001010903		Approved	DKFZp779B1540	uc003oly.3	P0C671	OTTHUMG00000014591	ENST00000437635.2:c.1447C>T	6.37:g.36291094G>A	ENSP00000418983:p.Arg483Trp						p.R483W	NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN			8	1624	-			483					B2RTY8	Missense_Mutation	SNP	ENST00000437635.2	37	c.1447C>T	CCDS34439.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.949675	0.73787	.	.	ENSG00000189325	ENST00000437635	T	0.62639	0.01	4.59	1.7	0.24286	.	0.306667	0.23752	N	0.044902	T	0.24392	0.0591	L	0.41492	1.28	0.09310	N	1	B	0.32128	0.357	B	0.26693	0.072	T	0.08432	-1.0722	10	0.51188	T	0.08	-15.9759	3.2857	0.06931	0.2183:0.0:0.5642:0.2175	.	483	P0C671	CF222_HUMAN	W	483	ENSP00000418983:R483W	ENSP00000418983:R483W	R	-	1	2	C6orf222	36399072	0.007000	0.16637	0.014000	0.15608	0.913000	0.54294	0.642000	0.24735	0.570000	0.29347	0.591000	0.81541	CGG		0.647	C6orf222-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040338.2	NM_001010903		38	93	0	0	0	1	0	38	93				
FAM155A	728215	broad.mit.edu	37	13	108518372	108518372	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr13:108518372G>A	ENST00000375915.2	-	1	711	c.573C>T	c.(571-573)tgC>tgT	p.C191C		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	191						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						AGTTCCTGGCGCACACCGCGT	0.647																																						ENST00000375915.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(571-573)tgC>tgT		family with sequence similarity 155, member A							45.0	55.0	51.0					13																	108518372		2201	4298	6499	SO:0001819	synonymous_variant	728215					integral to membrane	binding	g.chr13:108518372G>A	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.573C>T	13.37:g.108518372G>A							p.C191C	NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN			1	711	-			191					B2RUV1|B7Z334	Silent	SNP	ENST00000375915.2	37	c.573C>T	CCDS32006.1																																																																																				0.647	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		4	168	0	0	0	1	0	4	168				
SIGLEC5	8778	broad.mit.edu	37	19	52130854	52130854	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:52130854G>C	ENST00000534261.2	-	7	1542	c.1143C>G	c.(1141-1143)ttC>ttG	p.F381L	SIGLEC5_ENST00000570106.2_Missense_Mutation_p.F381L|SIGLEC5_ENST00000429354.3_Missense_Mutation_p.F381L|SIGLEC5_ENST00000222107.4_Missense_Mutation_p.F381L|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.F381L			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	381					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		AGTTGACCTTGAATGAGCCCT	0.652																																						ENST00000222107.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(1141-1143)ttC>ttG		sialic acid binding Ig-like lectin 5							41.0	40.0	40.0					19																	52130854		2203	4300	6503	SO:0001583	missense	8778				cell adhesion	integral to membrane	sugar binding	g.chr19:52130854G>C	U71383	CCDS33088.1	19q13.41	2013-01-29			ENSG00000105501	ENSG00000105501		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10874	protein-coding gene	gene with protein product		604200		CD33L2		10343116	Standard	NM_003830		Approved	OB-BP2, SIGLEC-5, CD170	uc002pxe.4	O15389	OTTHUMG00000165510	ENST00000534261.2:c.1143C>G	19.37:g.52130854G>C	ENSP00000473238:p.Phe381Leu					SIGLEC5_ENST00000429354.3_Missense_Mutation_p.F381L|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.F381L|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.F381L|SIGLEC5_ENST00000534261.2_Missense_Mutation_p.F381L	p.F381L			O15389	SIGL5_HUMAN		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)	6	1281	-		all_neural(266;0.0726)	381						Missense_Mutation	SNP	ENST00000534261.2	37	c.1143C>G	CCDS33088.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.557077	0.00910	.	.	ENSG00000105501	ENST00000222107;ENST00000429354	T;T	0.55052	0.54;0.54	3.81	1.62	0.23740	.	.	.	.	.	T	0.38532	0.1044	L	0.42581	1.335	0.09310	N	1	B	0.16166	0.016	B	0.15052	0.012	T	0.20773	-1.0265	9	0.25106	T	0.35	.	4.6794	0.12727	0.1245:0.2284:0.647:0.0	.	381	O15389	SIGL5_HUMAN	L	381	ENSP00000222107:F381L;ENSP00000415200:F381L	ENSP00000222107:F381L	F	-	3	2	SIGLEC5	56822666	0.000000	0.05858	0.005000	0.12908	0.066000	0.16364	-0.182000	0.09726	0.923000	0.37045	0.551000	0.68910	TTC		0.652	SIGLEC5-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466897.2	NM_003830		15	41	0	0	0	1	0	15	41				
EFCC1	79825	broad.mit.edu	37	3	128755945	128755945	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:128755945G>A	ENST00000480450.1	+	6	1575	c.1575G>A	c.(1573-1575)caG>caA	p.Q525Q	EFCC1_ENST00000436022.2_Silent_p.Q88Q			Q9HA90	EFCC1_HUMAN	EF-hand and coiled-coil domain containing 1	525							calcium ion binding (GO:0005509)										AGCTCCTGCAGAGGCTCCGGG	0.632																																						ENST00000436022.2																			0											c.(262-264)caG>caA		EF-hand and coiled-coil domain containing 1							31.0	33.0	32.0					3																	128755945		2202	4300	6502	SO:0001819	synonymous_variant	79825							g.chr3:128755945G>A	AK022119	CCDS3054.1, CCDS3054.2	3q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000114654	ENSG00000114654		"""EF-hand domain containing"""	25692	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 73"", ""coiled-coil domain containing 48"""	C3orf73, CCDC48			Standard	NM_024768		Approved	FLJ12057	uc011bkt.2	Q9HA90	OTTHUMG00000158996	ENST00000480450.1:c.1575G>A	3.37:g.128755945G>A						EFCC1_ENST00000480450.1_Silent_p.Q525Q	p.Q88Q	NM_024768.2	NP_079044.2					6	1575	+								A8MYE2	Silent	SNP	ENST00000480450.1	37	c.264G>A	CCDS3054.2																																																																																				0.632	EFCC1-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352832.1	NM_024768		4	14	0	0	0	1	0	4	14				
PRLR	5618	broad.mit.edu	37	5	35066071	35066071	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:35066071G>C	ENST00000382002.5	-	10	1415	c.989C>G	c.(988-990)tCa>tGa	p.S330*	PRLR_ENST00000231423.3_Nonsense_Mutation_p.S330*|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000310101.5_Nonsense_Mutation_p.S330*|PRLR_ENST00000511486.1_Nonsense_Mutation_p.S229*|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000509934.1_5'Flank|PRLR_ENST00000342362.5_Nonsense_Mutation_p.S229*	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	330					activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	GTGTTCTTTTGAATGGACTGA	0.483																																						ENST00000382002.5																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(988-990)tCa>tGa		prolactin receptor	Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						94.0	87.0	90.0					5																	35066071		2203	4300	6503	SO:0001587	stop_gained	5618				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	g.chr5:35066071G>C		CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.989C>G	5.37:g.35066071G>C	ENSP00000371432:p.Ser330*					PRLR_ENST00000342362.5_Nonsense_Mutation_p.S229*|PRLR_ENST00000231423.3_Nonsense_Mutation_p.S330*|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000511486.1_Nonsense_Mutation_p.S229*|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000310101.5_Nonsense_Mutation_p.S330*	p.S330*	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		10	1415	-	all_lung(31;3.83e-05)		330					B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Nonsense_Mutation	SNP	ENST00000382002.5	37	c.989C>G	CCDS3909.1	.	.	.	.	.	.	.	.	.	.	G	7.858	0.725423	0.15439	.	.	ENSG00000113494	ENST00000231423;ENST00000342362;ENST00000382002;ENST00000511486;ENST00000310101	.	.	.	5.67	2.65	0.31530	.	0.516962	0.23750	N	0.044933	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-3.4379	4.9909	0.14214	0.1835:0.0:0.461:0.3555	.	.	.	.	X	330;229;330;229;330	.	ENSP00000231423:S330X	S	-	2	0	PRLR	35101828	0.015000	0.18098	0.004000	0.12327	0.032000	0.12392	1.306000	0.33505	0.760000	0.33108	0.655000	0.94253	TCA		0.483	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207575.2			11	49	0	0	0	1	0	11	49				
MICAL3	57553	broad.mit.edu	37	22	18364025	18364025	+	Intron	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr22:18364025G>A	ENST00000441493.2	-	16	2594				MICAL3_ENST00000429452.1_Silent_p.I762I|MICAL3_ENST00000207726.7_Intron|MICAL3_ENST00000383094.3_Intron|MICAL3_ENST00000414725.2_Intron|MICAL3_ENST00000400561.2_Intron|MICAL3_ENST00000444520.1_Intron|MICAL3_ENST00000585038.1_Silent_p.I762I	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3						actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GAGACAGGGTGATCACTTTTT	0.547																																						ENST00000429452.1																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.(2284-2286)atC>atT		microtubule associated monooxygenase, calponin and LIM domain containing 3							159.0	157.0	157.0					22																	18364025		1568	3582	5150	SO:0001627	intron_variant	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18364025G>A	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.2241+4618C>T	22.37:g.18364025G>A						MICAL3_ENST00000400561.2_Intron|MICAL3_ENST00000414725.2_Intron|MICAL3_ENST00000207726.7_Intron|MICAL3_ENST00000585038.1_Silent_p.I762I|MICAL3_ENST00000383094.3_Intron|MICAL3_ENST00000444520.1_Intron|MICAL3_ENST00000441493.2_Intron	p.I762I	NM_001136004.1	NP_001129476.1	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	17	2638	-		all_epithelial(15;0.198)	1249			LIM zinc-binding.		B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Silent	SNP	ENST00000441493.2	37	c.2286C>T	CCDS46659.1																																																																																				0.547	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			30	109	0	0	0	1	0	30	109				
UBA6	55236	broad.mit.edu	37	4	68506923	68506923	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr4:68506923C>G	ENST00000322244.5	-	18	1559	c.1500G>C	c.(1498-1500)ttG>ttC	p.L500F		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	500					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						ATTTCTCTATCAAGTCAGGAT	0.284																																						ENST00000322244.4																			0				central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						c.(1498-1500)ttG>ttC		ubiquitin-like modifier activating enzyme 6							151.0	175.0	167.0					4																	68506923		2203	4289	6492	SO:0001583	missense	55236				protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	g.chr4:68506923C>G	AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"""Ubiquitin-like modifier activating enzymes"""	25581	protein-coding gene	gene with protein product	"""UBA6, ubiquitin-activating enzyme E1"""	611361	"""ubiquitin-activating enzyme E1-like 2"""	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.1500G>C	4.37:g.68506923C>G	ENSP00000313454:p.Leu500Phe						p.L500F	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN			18	1559	-			500					A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Missense_Mutation	SNP	ENST00000322244.5	37	c.1500G>C	CCDS3516.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.53|10.53	1.375000|1.375000	0.24857|0.24857	.|.	.|.	ENSG00000033178|ENSG00000033178	ENST00000322244|ENST00000505673	T|.	0.44881|.	0.91|.	5.74|5.74	2.65|2.65	0.31530|0.31530	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.57344|.	0.2047|.	L|L	0.51914|0.51914	1.62|1.62	0.80722|0.80722	D|D	1|1	D|.	0.63046|.	0.992|.	P|.	0.62184|.	0.899|.	T|.	0.51949|.	-0.8640|.	10|.	0.10111|.	T|.	0.7|.	-26.3604|-26.3604	9.5463|9.5463	0.39282|0.39282	0.0:0.6326:0.0:0.3674|0.0:0.6326:0.0:0.3674	.|.	500|.	A0AVT1|.	UBA6_HUMAN|.	F|S	500|34	ENSP00000313454:L500F|.	ENSP00000313454:L500F|.	L|X	-|-	3|2	2|2	UBA6|UBA6	68189518|68189518	0.993000|0.993000	0.37304|0.37304	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	0.247000|0.247000	0.18179|0.18179	0.771000|0.771000	0.33359|0.33359	0.591000|0.591000	0.81541|0.81541	TTG|TGA		0.284	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	NM_018227		52	129	0	0	0	1	0	52	129				
ZNF208	7757	broad.mit.edu	37	19	22154795	22154795	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:22154795G>A	ENST00000397126.4	-	4	3189	c.3041C>T	c.(3040-3042)tCa>tTa	p.S1014L	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	1014					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CATAAGGTTTGATGACCAGTT	0.398																																						ENST00000397126.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(3040-3042)tCa>tTa		zinc finger protein 208							93.0	100.0	98.0					19																	22154795		2129	4249	6378	SO:0001583	missense	7757							g.chr19:22154795G>A	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.3041C>T	19.37:g.22154795G>A	ENSP00000380315:p.Ser1014Leu					ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	p.S1014L	NM_007153.3	NP_009084.2					4	3189	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.3041C>T	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.122434	0.37436	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.07444	3.19	2.58	0.0239	0.14139	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06416	0.0165	.	.	.	0.09310	N	1	B	0.23490	0.086	B	0.23150	0.044	T	0.36383	-0.9750	8	0.66056	D	0.02	.	4.9851	0.14185	0.1273:0.0:0.6674:0.2053	.	886	O43345	ZN208_HUMAN	L	1014;886	ENSP00000380315:S1014L	ENSP00000380315:S1014L	S	-	2	0	ZNF208	21946635	0.000000	0.05858	0.000000	0.03702	0.142000	0.21351	-0.507000	0.06352	-0.354000	0.08212	0.289000	0.19496	TCA		0.398	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		35	76	0	0	0	1	0	35	76				
ZNF532	55205	broad.mit.edu	37	18	56586482	56586482	+	Silent	SNP	C	C	T	rs149812809		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr18:56586482C>T	ENST00000336078.4	+	4	1739	c.963C>T	c.(961-963)atC>atT	p.I321I	ZNF532_ENST00000591083.1_Silent_p.I321I|ZNF532_ENST00000589288.1_Silent_p.I321I|ZNF532_ENST00000591808.1_Silent_p.I321I|ZNF532_ENST00000591230.1_Silent_p.I321I	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	321					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I321I(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						AGAATCTCATCGACGGGACCA	0.527																																						ENST00000336078.4																			1	Substitution - coding silent(1)	p.I321I(1)	lung(1)	breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						c.(961-963)atC>atT		zinc finger protein 532							101.0	104.0	103.0					18																	56586482		2203	4300	6503	SO:0001819	synonymous_variant	55205				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:56586482C>T	AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"""Zinc fingers, C2H2-type"""	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.963C>T	18.37:g.56586482C>T						ZNF532_ENST00000591083.1_Silent_p.I321I|ZNF532_ENST00000591808.1_Silent_p.I321I|ZNF532_ENST00000591230.1_Silent_p.I321I|ZNF532_ENST00000589288.1_Silent_p.I321I	p.I321I	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN			4	1739	+			321					Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Silent	SNP	ENST00000336078.4	37	c.963C>T	CCDS11969.1																																																																																				0.527	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	NM_018181		45	151	0	0	0	1	0	45	151				
STAB2	55576	broad.mit.edu	37	12	104033919	104033919	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:104033919G>T	ENST00000388887.2	+	9	1129	c.925G>T	c.(925-927)Gag>Tag	p.E309*		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CGAGTGTAAGGAGCATTACCA	0.403																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(925-927)Gag>Tag		stabilin 2							152.0	139.0	143.0					12																	104033919		2203	4300	6503	SO:0001587	stop_gained	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104033919G>T	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.925G>T	12.37:g.104033919G>T	ENSP00000373539:p.Glu309*						p.E309*	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			9	1129	+			309						Nonsense_Mutation	SNP	ENST00000388887.2	37	c.925G>T	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	G	35	5.500428	0.96355	.	.	ENSG00000136011	ENST00000388887	.	.	.	5.62	0.631	0.17699	.	0.548754	0.19017	N	0.124910	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	9.4386	0.38655	0.2388:0.0978:0.6634:0.0	.	.	.	.	X	309	.	ENSP00000373539:E309X	E	+	1	0	STAB2	102558049	1.000000	0.71417	0.441000	0.26858	0.176000	0.22953	1.796000	0.38794	-0.294000	0.08973	-0.797000	0.03246	GAG		0.403	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			24	86	1	0	9.95505e-16	1	1.06464e-15	24	86				
NRK	203447	broad.mit.edu	37	X	105153231	105153231	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:105153231G>A	ENST00000243300.9	+	13	1901	c.1598G>A	c.(1597-1599)gGc>gAc	p.G533D	NRK_ENST00000428173.2_Missense_Mutation_p.G534D	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	533	Gln-rich.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CAAAGGCAGGGCCAGGCCCCT	0.562										HNSCC(51;0.14)																												ENST00000428173.2																			0				breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						c.(1600-1602)gGc>gAc		Nik related kinase							36.0	37.0	37.0					X																	105153231		1987	4149	6136	SO:0001583	missense	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105153231G>A	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.1598G>A	X.37:g.105153231G>A	ENSP00000434830:p.Gly533Asp	HNSCC(51;0.14)				NRK_ENST00000243300.9_Missense_Mutation_p.G533D	p.G534D			Q7Z2Y5	NRK_HUMAN			13	1904	+			533			Gln-rich.		Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37	c.1601G>A		.	.	.	.	.	.	.	.	.	.	G	9.159	1.018332	0.19355	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.24151	1.87;1.87	4.49	2.62	0.31277	.	0.261705	0.27654	N	0.018409	T	0.13927	0.0337	N	0.24115	0.695	0.20074	N	0.999932	B;B	0.23540	0.087;0.011	B;B	0.22601	0.04;0.006	T	0.16867	-1.0388	10	0.52906	T	0.07	.	3.0594	0.06195	0.238:0.0:0.5499:0.2121	.	201;533	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	D	533;534	ENSP00000434830:G533D;ENSP00000438378:G534D	ENSP00000434830:G533D	G	+	2	0	NRK	105039887	0.715000	0.27946	0.009000	0.14445	0.090000	0.18270	0.628000	0.24522	0.554000	0.29061	0.600000	0.82982	GGC		0.562	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		15	32	0	0	0	1	0	15	32				
BTBD7	55727	broad.mit.edu	37	14	93712233	93712233	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr14:93712233C>T	ENST00000334746.5	-	10	2828	c.2521G>A	c.(2521-2523)Gct>Act	p.A841T	BTBD7_ENST00000393170.2_Missense_Mutation_p.A415T|BTBD7_ENST00000554565.1_Missense_Mutation_p.A490T	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	841					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		GTGGCGGCAGCAGCAGCCACC	0.557																																						ENST00000334746.5																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35						c.(2521-2523)Gct>Act		BTB (POZ) domain containing 7							18.0	20.0	19.0					14																	93712233		2197	4289	6486	SO:0001583	missense	55727							g.chr14:93712233C>T	AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"""BTB/POZ domain containing"""	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.2521G>A	14.37:g.93712233C>T	ENSP00000335615:p.Ala841Thr					BTBD7_ENST00000554565.1_Missense_Mutation_p.A490T|BTBD7_ENST00000393170.2_Missense_Mutation_p.A415T	p.A841T	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)	10	2828	-		all_cancers(154;0.08)	841					A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Missense_Mutation	SNP	ENST00000334746.5	37	c.2521G>A	CCDS32146.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.751022	0.49257	.	.	ENSG00000011114	ENST00000334746;ENST00000554565;ENST00000553975;ENST00000393170	T;T	0.46063	1.21;0.88	5.41	3.47	0.39725	.	0.158035	0.56097	D	0.000021	T	0.22975	0.0555	N	0.14661	0.345	0.09310	N	1	B;B;B	0.11235	0.001;0.004;0.0	B;B;B	0.12156	0.003;0.007;0.0	T	0.10064	-1.0646	10	0.37606	T	0.19	.	6.8831	0.24185	0.0:0.7929:0.0:0.2071	.	415;490;841	E7ERI4;Q9P203-5;Q9P203	.;.;BTBD7_HUMAN	T	841;490;456;415	ENSP00000335615:A841T;ENSP00000451010:A490T	ENSP00000335615:A841T	A	-	1	0	BTBD7	92781986	0.039000	0.19947	0.083000	0.20561	0.185000	0.23345	0.507000	0.22675	1.527000	0.49086	-0.143000	0.13931	GCT		0.557	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860		13	39	0	0	0	1	0	13	39				
ANLN	54443	broad.mit.edu	37	7	36462396	36462396	+	Silent	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr7:36462396C>G	ENST00000265748.2	+	14	2675	c.2454C>G	c.(2452-2454)gtC>gtG	p.V818V	ANLN_ENST00000396068.2_Silent_p.V781V	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	818	Localization to the cleavage furrow.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						CAGATTTTGTCTGCAGTACGG	0.388																																						ENST00000265748.2																			0				breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						c.(2452-2454)gtC>gtG		anillin, actin binding protein							196.0	198.0	197.0					7																	36462396		2203	4300	6503	SO:0001819	synonymous_variant	54443				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	g.chr7:36462396C>G	AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"""Pleckstrin homology (PH) domain containing"""	14082	protein-coding gene	gene with protein product			"""anillin (Drosophila Scraps homolog), actin binding protein"", ""anillin, actin binding protein (scraps homolog, Drosophila)"""			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.2454C>G	7.37:g.36462396C>G						ANLN_ENST00000396068.2_Silent_p.V781V	p.V818V	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN			14	2675	+			818			Localization to the cleavage furrow.		Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Silent	SNP	ENST00000265748.2	37	c.2454C>G	CCDS5447.1	.	.	.	.	.	.	.	.	.	.	C	7.211	0.595407	0.13875	.	.	ENSG00000011426	ENST00000446635;ENST00000457743	.	.	.	6.05	1.06	0.20224	.	.	.	.	.	T	0.45256	0.1333	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21621	-1.0240	4	.	.	.	-12.7937	3.4285	0.07420	0.1052:0.3723:0.3346:0.1879	.	.	.	.	C	172;22	.	.	S	+	2	0	ANLN	36428921	0.005000	0.15991	0.915000	0.36163	0.723000	0.41478	-1.209000	0.03002	-0.079000	0.12707	-0.142000	0.14014	TCT		0.388	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685		36	105	0	0	0	1	0	36	105				
SHROOM4	57477	broad.mit.edu	37	X	50556995	50556995	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:50556995G>T	ENST00000289292.7	-	1	307	c.24C>A	c.(22-24)ttC>ttA	p.F8L	SHROOM4_ENST00000376020.2_Missense_Mutation_p.F8L			Q9ULL8	SHRM4_HUMAN	shroom family member 4	8					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GGACGTACTGGAAGGACCCAG	0.662																																						ENST00000376020.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(22-24)ttC>ttA		shroom family member 4							36.0	35.0	35.0					X																	50556995		2200	4300	6500	SO:0001583	missense	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50556995G>T	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.24C>A	X.37:g.50556995G>T	ENSP00000289292:p.Phe8Leu					SHROOM4_ENST00000289292.7_Missense_Mutation_p.F8L	p.F8L	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN			1	49	-	Ovarian(276;0.236)		8					A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	ENST00000289292.7	37	c.24C>A	CCDS35277.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.427233	0.43122	.	.	ENSG00000158352	ENST00000289292;ENST00000376020	T;T	0.10288	2.89;2.89	5.03	5.03	0.67393	PDZ/DHR/GLGF (1);	0.389756	0.20113	N	0.098969	T	0.09686	0.0238	L	0.50333	1.59	0.45464	D	0.998433	B	0.30914	0.3	B	0.29077	0.098	T	0.12319	-1.0552	10	0.13108	T	0.6	.	8.5961	0.33716	0.1075:0.0:0.8925:0.0	.	8	Q9ULL8	SHRM4_HUMAN	L	8	ENSP00000289292:F8L;ENSP00000365188:F8L	ENSP00000289292:F8L	F	-	3	2	SHROOM4	50573735	1.000000	0.71417	1.000000	0.80357	0.668000	0.39293	4.500000	0.60387	2.064000	0.61679	0.594000	0.82650	TTC		0.662	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		10	27	1	0	3.07112e-06	1	3.13733e-06	10	27				
ENO3	2027	broad.mit.edu	37	17	4859947	4859947	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:4859947G>A	ENST00000323997.6	+	10	1279	c.1147G>A	c.(1147-1149)Gac>Aac	p.D383N	ENO3_ENST00000518175.1_Missense_Mutation_p.D383N|ENO3_ENST00000519584.1_Missense_Mutation_p.D340N	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	383					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|response to drug (GO:0042493)|skeletal muscle tissue regeneration (GO:0043403)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						ATTCATTGCTGACCTTGTGGT	0.552											OREG0024110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000323997.6																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						c.(1147-1149)Gac>Aac		enolase 3 (beta, muscle)							107.0	105.0	106.0					17																	4859947		2203	4300	6503	SO:0001583	missense	2027				gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity	g.chr17:4859947G>A	X16504	CCDS11062.1, CCDS54070.1	17p13.2	2013-09-19	2004-11-22		ENSG00000108515	ENSG00000108515	4.2.1.11		3354	protein-coding gene	gene with protein product		131370	"""enolase 3, (beta, muscle)"""				Standard	NM_001976		Approved		uc002gab.4	P13929	OTTHUMG00000099394	ENST00000323997.6:c.1147G>A	17.37:g.4859947G>A	ENSP00000324105:p.Asp383Asn		OREG0024110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	622	ENO3_ENST00000518175.1_Missense_Mutation_p.D383N|ENO3_ENST00000519584.1_Missense_Mutation_p.D340N	p.D383N	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN			10	1279	+			383					B4DUI6|B4DUM6|D3DTL2|E7ENK8|Q96AE2	Missense_Mutation	SNP	ENST00000323997.6	37	c.1147G>A	CCDS11062.1	.	.	.	.	.	.	.	.	.	.	G	33	5.275668	0.95459	.	.	ENSG00000108515	ENST00000323997;ENST00000519584;ENST00000518175	D;D;D	0.85861	-2.04;-2.04;-2.04	5.32	5.32	0.75619	Enolase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91362	0.7275	M	0.90145	3.09	0.80722	D	1	P;B;P	0.35192	0.489;0.158;0.489	P;B;P	0.45913	0.497;0.22;0.497	D	0.92210	0.5775	10	0.87932	D	0	-2.3402	16.5841	0.84723	0.0:0.0:1.0:0.0	.	383;340;383	P13929;P13929-3;D3DTL2	ENOB_HUMAN;.;.	N	383;340;383	ENSP00000324105:D383N;ENSP00000430636:D340N;ENSP00000431087:D383N	ENSP00000324105:D383N	D	+	1	0	ENO3	4800671	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.657000	0.98554	2.786000	0.95864	0.585000	0.79938	GAC		0.552	ENO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216851.2			35	105	0	0	0	1	0	35	105				
EEF2	1938	broad.mit.edu	37	19	3983259	3983259	+	Silent	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:3983259C>T	ENST00000309311.6	-	3	337	c.249G>A	c.(247-249)gaG>gaA	p.E83E	SNORD37_ENST00000384048.1_RNA|EEF2_ENST00000600720.1_5'UTR	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	83	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		TCAAGTCATTCTCCGAGAGCT	0.592																																					Colon(165;1804 1908 4071 6587 18799)	ENST00000309311.6																			0				endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(247-249)gaG>gaA		eukaryotic translation elongation factor 2							113.0	104.0	107.0					19																	3983259		2203	4300	6503	SO:0001819	synonymous_variant	1938					cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr19:3983259C>T	Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"""polypeptidyl-tRNA translocase"""	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.249G>A	19.37:g.3983259C>T						EEF2_ENST00000600720.1_5'UTR	p.E83E	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)	3	337	-		Hepatocellular(1079;0.137)	83					B2RMP5|D6W618|Q58J86	Silent	SNP	ENST00000309311.6	37	c.249G>A	CCDS12117.1																																																																																				0.592	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457615.2	NM_001961		11	29	0	0	0	1	0	11	29				
TRIAP1	51499	broad.mit.edu	37	12	120882728	120882728	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:120882728C>T	ENST00000546954.1	-	2	217	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	AL021546.6_ENST00000551806.1_Intron|GATC_ENST00000551765.1_5'Flank|TRIAP1_ENST00000302432.3_5'UTR	NM_016399.2	NP_057483.1	O43715	TRIA1_HUMAN	TP53 regulated inhibitor of apoptosis 1	60					cellular response to UV (GO:0034644)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|phospholipid transport (GO:0015914)|positive regulation of phospholipid transport (GO:2001140)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of membrane lipid distribution (GO:0097035)	mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	p53 binding (GO:0002039)					all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCCAGTCCTTCAATAGGAATC	0.388																																						ENST00000546954.1																			0											c.(178-180)Gaa>Aaa		TP53 regulated inhibitor of apoptosis 1							213.0	214.0	213.0					12																	120882728		2203	4300	6503	SO:0001583	missense	51499				anti-apoptosis|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	mitochondrion|perinuclear region of cytoplasm	caspase inhibitor activity|protein binding	g.chr12:120882728C>T		CCDS9198.1	12q24.31	2012-10-15			ENSG00000170855	ENSG00000170855			26937	protein-coding gene	gene with protein product	"""p53-inducible cell-survival factor"", ""mitochondrial distribution and morphology 35 homolog (S. cerevisiae)"""	614943				11042152, 15735003	Standard	NM_016399		Approved	P53CSV, WF-1, HSPC132, p53CSV, MDM35	uc001tyg.3	O43715	OTTHUMG00000047787	ENST00000546954.1:c.178G>A	12.37:g.120882728C>T	ENSP00000449795:p.Glu60Lys					AL021546.6_ENST00000551806.1_Intron|TRIAP1_ENST00000302432.3_5'UTR	p.E60K	NM_016399.2	NP_057483.1	O43715	TRIA1_HUMAN			2	217	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		60					B2R4Z7|Q5RKS5|Q6LCA7	Missense_Mutation	SNP	ENST00000546954.1	37	c.178G>A	CCDS9198.1	.	.	.	.	.	.	.	.	.	.	C	18.63	3.665023	0.67700	.	.	ENSG00000170855	ENST00000546954	.	.	.	5.82	5.82	0.92795	.	0.160163	0.56097	D	0.000035	T	0.49558	0.1564	.	.	.	0.80722	D	1	B	0.32653	0.379	B	0.35182	0.197	T	0.38351	-0.9665	8	0.15066	T	0.55	-33.9126	20.1086	0.97902	0.0:1.0:0.0:0.0	.	60	O43715	TRIA1_HUMAN	K	60	.	ENSP00000449795:E60K	E	-	1	0	TRIAP1	119367111	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.130000	0.77235	2.756000	0.94617	0.563000	0.77884	GAA		0.388	TRIAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108980.3	NM_016399		55	130	0	0	0	1	0	55	130				
PRSS54	221191	broad.mit.edu	37	16	58324919	58324919	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr16:58324919G>A	ENST00000219301.4	-	4	601	c.207C>T	c.(205-207)ttC>ttT	p.F69F	PRSS54_ENST00000567164.1_Silent_p.F69F|PRSS54_ENST00000543437.1_Intron	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	69	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GGATGCAGCCGAAAGCCAGGT	0.627																																						ENST00000219301.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(205-207)ttC>ttT		protease, serine, 54							108.0	86.0	94.0					16																	58324919		2198	4300	6498	SO:0001819	synonymous_variant	221191				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:58324919G>A	AK058068	CCDS32463.1	16q21	2010-05-07			ENSG00000103023	ENSG00000103023		"""Serine peptidases / Serine peptidases"""	26336	protein-coding gene	gene with protein product	"""cancer/testis antigen 67"""					17521433	Standard	NM_001080492		Approved	FLJ25339, KLKBL4, CT67	uc002enf.3	Q6PEW0		ENST00000219301.4:c.207C>T	16.37:g.58324919G>A						PRSS54_ENST00000567164.1_Silent_p.F69F|PRSS54_ENST00000543437.1_Intron	p.F69F	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN			4	601	-			69			Peptidase S1.		Q96LN9|Q9NT77	Silent	SNP	ENST00000219301.4	37	c.207C>T	CCDS32463.1																																																																																				0.627	PRSS54-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422556.1	NM_001080492		23	60	0	0	0	1	0	23	60				
TRAV12-1	28674	broad.mit.edu	37	14	22309866	22309866	+	RNA	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr14:22309866G>A	ENST00000390433.1	+	0	250									T cell receptor alpha variable 12-1																		AAGGTTTACAGCACAGCTCAA	0.473																																						ENST00000390433.1																			0																				116.0	112.0	113.0					14																	22309866		1952	4160	6112			28674							g.chr14:22309866G>A	AE000659		14q11.2	2012-02-07			ENSG00000211785	ENSG00000211785		"""T cell receptors / TRA locus"""	12105	other	T cell receptor gene						8188290	Standard	NG_001332		Approved		uc001wbx.2		OTTHUMG00000168990		14.37:g.22309866G>A														0	250	+									RNA	SNP	ENST00000390433.1	37																																																																																						0.473	TRAV12-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000401888.1	NG_001332		4	189	0	0	0	1	0	4	189				
HUWE1	10075	broad.mit.edu	37	X	53572036	53572036	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:53572036C>T	ENST00000342160.3	-	70	11459	c.11002G>A	c.(11002-11004)Gag>Aag	p.E3668K	HUWE1_ENST00000262854.6_Missense_Mutation_p.E3668K|HUWE1_ENST00000474288.1_5'UTR			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3668					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GGCTGCTCCTCAGGCAGGCCA	0.597																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(11002-11004)Gag>Aag		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							38.0	32.0	34.0					X																	53572036		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53572036C>T	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.11002G>A	X.37:g.53572036C>T	ENSP00000340648:p.Glu3668Lys					HUWE1_ENST00000262854.6_Missense_Mutation_p.E3668K|HUWE1_ENST00000474288.1_5'UTR	p.E3668K			Q7Z6Z7	HUWE1_HUMAN			70	11459	-			3668					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.11002G>A	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	-	15.21	2.764625	0.49574	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.37752	1.18;1.18	5.6	5.6	0.85130	.	0.060584	0.64402	D	0.000006	T	0.25901	0.0631	L	0.34521	1.04	0.58432	D	0.999996	P;P	0.40731	0.608;0.728	B;B	0.32980	0.052;0.156	T	0.05616	-1.0874	10	0.13853	T	0.58	.	17.3684	0.87369	0.0:1.0:0.0:0.0	.	3668;3652	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	K	3668	ENSP00000340648:E3668K;ENSP00000262854:E3668K	ENSP00000262854:E3668K	E	-	1	0	HUWE1	53588761	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	5.161000	0.64935	2.369000	0.80426	0.591000	0.81541	GAG		0.597	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		12	16	0	0	0	1	0	12	16				
GPR32	2854	broad.mit.edu	37	19	51274484	51274484	+	Silent	SNP	C	C	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:51274484C>A	ENST00000270590.4	+	1	764	c.627C>A	c.(625-627)gtC>gtA	p.V209V		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	209					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		TTGAAGGGGTCGTGGAGGGAC	0.547																																					Esophageal Squamous(113;152 1581 5732 15840 44398)	ENST00000270590.4																			0				breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(625-627)gtC>gtA		G protein-coupled receptor 32							61.0	59.0	60.0					19																	51274484		2203	4300	6503	SO:0001819	synonymous_variant	2854					integral to plasma membrane	N-formyl peptide receptor activity	g.chr19:51274484C>A	AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"""GPCR / Class A : Resolvin receptors"""	4487	protein-coding gene	gene with protein product	"""resolvin D1 receptor"""	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.627C>A	19.37:g.51274484C>A							p.V209V	NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	1	764	+		all_neural(266;0.131)	209					Q502U7|Q6NWS5	Silent	SNP	ENST00000270590.4	37	c.627C>A	CCDS12801.1																																																																																				0.547	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465016.1			6	49	1	0	3.59834e-05	1	3.65771e-05	6	49				
NUCKS1	64710	broad.mit.edu	37	1	205689659	205689659	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:205689659C>G	ENST00000367142.4	-	5	654	c.352G>C	c.(352-354)Gaa>Caa	p.E118Q	NUCKS1_ENST00000464938.1_5'Flank	NM_022731.4	NP_073568.2	Q9H1E3	NUCKS_HUMAN	nuclear casein kinase and cyclin-dependent kinase substrate 1	118						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(1)|lung(9)	14	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			TCCTCCTCTTCTTGTTCTTCC	0.443																																						ENST00000367142.4																			0				endometrium(4)|large_intestine(1)|lung(9)	14						c.(352-354)Gaa>Caa		nuclear casein kinase and cyclin-dependent kinase substrate 1							289.0	236.0	254.0					1																	205689659		2203	4300	6503	SO:0001583	missense	64710					nucleus		g.chr1:205689659C>G		CCDS30987.1	1q32.1	2008-02-05			ENSG00000069275	ENSG00000069275			29923	protein-coding gene	gene with protein product		611912				11298763	Standard	NM_022731		Approved	NUCKS	uc001hdb.3	Q9H1E3	OTTHUMG00000035996	ENST00000367142.4:c.352G>C	1.37:g.205689659C>G	ENSP00000356110:p.Glu118Gln						p.E118Q	NM_022731.4	NP_073568.2	Q9H1E3	NUCKS_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0194)		5	654	-	Breast(84;0.07)		118					Q54AC0|Q5PXE7|Q9H1D6|Q9H723	Missense_Mutation	SNP	ENST00000367142.4	37	c.352G>C	CCDS30987.1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.972065	0.34754	.	.	ENSG00000069275	ENST00000367142;ENST00000264531	T	0.24908	1.83	5.27	4.29	0.51040	.	0.228496	0.46758	D	0.000261	T	0.13628	0.0330	N	0.05383	-0.06	0.41489	D	0.98821	B	0.02656	0.0	B	0.04013	0.001	T	0.09930	-1.0652	10	0.21014	T	0.42	-23.2015	14.7935	0.69860	0.0:0.7783:0.2217:0.0	.	118	Q9H1E3	NUCKS_HUMAN	Q	118;98	ENSP00000356110:E118Q	ENSP00000264531:E98Q	E	-	1	0	NUCKS1	203956282	1.000000	0.71417	0.940000	0.37924	0.993000	0.82548	2.391000	0.44424	2.621000	0.88768	0.650000	0.86243	GAA		0.443	NUCKS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087729.1	NM_022731		34	79	0	0	0	1	0	34	79				
DPYSL4	10570	broad.mit.edu	37	10	134006208	134006208	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr10:134006208G>A	ENST00000338492.4	+	3	339	c.175G>A	c.(175-177)Gac>Aac	p.D59N	DPYSL4_ENST00000368629.1_5'UTR|DPYSL4_ENST00000493882.1_3'UTR|DPYSL4_ENST00000368627.1_5'Flank	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	59					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)	cytosol (GO:0005829)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		CAAGACCATTGACGCCCACGG	0.577																																						ENST00000338492.4																			0				NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(175-177)Gac>Aac		dihydropyrimidinase-like 4							110.0	92.0	98.0					10																	134006208		2203	4300	6503	SO:0001583	missense	10570				axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr10:134006208G>A	AB006713	CCDS7665.1	10q25.2-q26	2008-05-14			ENSG00000151640	ENSG00000151640			3016	protein-coding gene	gene with protein product		608407				8973361, 9652388	Standard	NM_006426		Approved	ULIP4, DRP-4	uc009ybb.3	O14531	OTTHUMG00000019283	ENST00000338492.4:c.175G>A	10.37:g.134006208G>A	ENSP00000339850:p.Asp59Asn					DPYSL4_ENST00000493882.1_3'UTR|DPYSL4_ENST00000368629.1_5'UTR	p.D59N	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)	3	339	+		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	59					B2RMQ1|D3DRG5|O00240|Q5T0Q7	Missense_Mutation	SNP	ENST00000338492.4	37	c.175G>A	CCDS7665.1	.	.	.	.	.	.	.	.	.	.	G	32	5.127444	0.94473	.	.	ENSG00000151640	ENST00000338492	D	0.93247	-3.19	4.92	4.92	0.64577	Metal-dependent hydrolase, composite domain (1);	0.102210	0.64402	D	0.000004	D	0.94840	0.8333	M	0.85542	2.76	0.80722	D	1	D	0.57257	0.979	P	0.46208	0.507	D	0.95835	0.8861	10	0.87932	D	0	-11.6555	18.4021	0.90520	0.0:0.0:1.0:0.0	.	59	O14531	DPYL4_HUMAN	N	59	ENSP00000339850:D59N	ENSP00000339850:D59N	D	+	1	0	DPYSL4	133856198	1.000000	0.71417	0.075000	0.20258	0.846000	0.48090	7.328000	0.79160	2.568000	0.86640	0.650000	0.86243	GAC		0.577	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051050.2			19	52	0	0	0	1	0	19	52				
SULF1	23213	broad.mit.edu	37	8	70533395	70533395	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr8:70533395C>A	ENST00000260128.4	+	14	2220	c.1503C>A	c.(1501-1503)gaC>gaA	p.D501E	SULF1_ENST00000402687.4_Missense_Mutation_p.D501E|SULF1_ENST00000419716.3_Missense_Mutation_p.D501E|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000458141.2_Missense_Mutation_p.D501E	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	501					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			ATGACAAAGACAAAGAGTGCA	0.532																																						ENST00000260128.4																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(1501-1503)gaC>gaA		sulfatase 1							71.0	70.0	71.0					8																	70533395		2203	4300	6503	SO:0001583	missense	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70533395C>A	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.1503C>A	8.37:g.70533395C>A	ENSP00000260128:p.Asp501Glu					SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Missense_Mutation_p.D501E|SULF1_ENST00000402687.4_Missense_Mutation_p.D501E|SULF1_ENST00000458141.2_Missense_Mutation_p.D501E	p.D501E	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		14	2220	+	Breast(64;0.0654)		501					Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	c.1503C>A	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	C	9.311	1.055475	0.19907	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.98701	-5.08;-5.08;-5.08;-5.08	5.85	5.85	0.93711	Alkaline-phosphatase-like, core domain (1);	0.046846	0.85682	D	0.000000	D	0.93307	0.7867	N	0.08118	0	0.31763	N	0.633092	B	0.11235	0.004	B	0.15870	0.014	D	0.87896	0.2687	10	0.09843	T	0.71	.	7.295	0.26387	0.1426:0.7201:0.0:0.1373	.	501	Q8IWU6	SULF1_HUMAN	E	501	ENSP00000403040:D501E;ENSP00000260128:D501E;ENSP00000385704:D501E;ENSP00000390315:D501E	ENSP00000260128:D501E	D	+	3	2	SULF1	70695949	1.000000	0.71417	1.000000	0.80357	0.500000	0.33767	1.303000	0.33470	2.767000	0.95098	0.655000	0.94253	GAC		0.532	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		13	49	1	0	1.61879e-10	1	1.69877e-10	13	49				
RAB18	22931	broad.mit.edu	37	10	27826858	27826858	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr10:27826858G>A	ENST00000356940.6	+	7	601	c.499G>A	c.(499-501)Gaa>Aaa	p.E167K	RAB18_ENST00000375802.3_Missense_Mutation_p.E122K|RAB18_ENST00000465772.1_3'UTR|RAB18_ENST00000535776.1_Missense_Mutation_p.E103K	NM_001256410.1|NM_001256415.1|NM_021252.4	NP_001243339.1|NP_001243344.1|NP_067075.1	Q9NP72	RAB18_HUMAN	RAB18, member RAS oncogene family	167					brain development (GO:0007420)|endoplasmic reticulum tubular network organization (GO:0071786)|eye development (GO:0001654)|GTP catabolic process (GO:0006184)|lipid particle organization (GO:0034389)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			kidney(1)|large_intestine(1)|lung(1)	3						AGAACTTGTTGAAAAGATCAT	0.448																																						ENST00000356940.6																			0				kidney(1)|large_intestine(1)|lung(1)	3						c.(499-501)Gaa>Aaa		RAB18, member RAS oncogene family							118.0	114.0	115.0					10																	27826858		2203	4300	6503	SO:0001583	missense	22931				endocytosis|protein transport|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|GTPase activity|transcription factor binding	g.chr10:27826858G>A	AJ277145	CCDS7155.1, CCDS58073.1, CCDS73080.1, CCDS73081.1	10p12	2011-03-07			ENSG00000099246	ENSG00000099246		"""RAB, member RAS oncogene"""	14244	protein-coding gene	gene with protein product		602207				10648831	Standard	NM_021252		Approved		uc001itw.4	Q9NP72	OTTHUMG00000017861	ENST00000356940.6:c.499G>A	10.37:g.27826858G>A	ENSP00000349415:p.Glu167Lys					RAB18_ENST00000535776.1_Missense_Mutation_p.E103K|RAB18_ENST00000375802.3_Missense_Mutation_p.E122K|RAB18_ENST00000465772.1_3'UTR	p.E167K	NM_001256410.1|NM_001256415.1|NM_021252.4	NP_001243339.1|NP_001243344.1|NP_067075.1	Q9NP72	RAB18_HUMAN			7	601	+			167					B3KMC7|B7Z333|D3DRW1|Q53FX8|Q56UN9|Q6FIH1	Missense_Mutation	SNP	ENST00000356940.6	37	c.499G>A	CCDS7155.1	.	.	.	.	.	.	.	.	.	.	G	9.727	1.161241	0.21538	.	.	ENSG00000099246	ENST00000356940;ENST00000535776;ENST00000540268;ENST00000375802	T;T;T	0.26660	1.72;1.72;1.72	6.16	5.26	0.73747	.	.	.	.	.	T	0.15089	0.0364	N	0.16743	0.435	0.80722	D	1	B;P;B	0.34815	0.028;0.47;0.284	B;B;B	0.32090	0.014;0.14;0.06	T	0.06972	-1.0797	9	0.10902	T	0.67	.	14.6695	0.68934	0.0689:0.0:0.9311:0.0	.	103;196;167	B7Z333;Q56UN9;Q9NP72	.;.;RAB18_HUMAN	K	167;103;145;122	ENSP00000349415:E167K;ENSP00000439321:E103K;ENSP00000364960:E122K	ENSP00000349415:E167K	E	+	1	0	RAB18	27866864	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.776000	0.99001	1.623000	0.50342	0.650000	0.86243	GAA		0.448	RAB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047326.2	NM_021252		15	55	0	0	0	1	0	15	55				
NOVA1	4857	broad.mit.edu	37	14	26917690	26917690	+	Silent	SNP	A	A	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr14:26917690A>G	ENST00000539517.2	-	5	1316	c.999T>C	c.(997-999)ggT>ggC	p.G333G	NOVA1_ENST00000267422.7_Silent_p.G211G|NOVA1_ENST00000465357.2_Silent_p.G309G	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	336	Ala-rich.				locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TGAGACCTAAACCTAAAGTGT	0.502																																						ENST00000539517.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(997-999)ggT>ggC		neuro-oncological ventral antigen 1							46.0	43.0	44.0					14																	26917690		2203	4300	6503	SO:0001819	synonymous_variant	4857				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	g.chr14:26917690A>G	U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000539517.2:c.999T>C	14.37:g.26917690A>G						NOVA1_ENST00000465357.2_Silent_p.G309G|NOVA1_ENST00000267422.7_Silent_p.G211G	p.G333G	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0135)	5	1316	-			336			Ala-rich.		A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Silent	SNP	ENST00000539517.2	37	c.999T>C	CCDS32061.1																																																																																				0.502	NOVA1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000073261.3	NM_006491		10	31	0	0	0	1	0	10	31				
TRPC4AP	26133	broad.mit.edu	37	20	33587632	33587632	+	IGR	SNP	C	C	G	rs372152931		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr20:33587632C>G	ENST00000252015.2	-	0	3226				MYH7B_ENST00000262873.7_Missense_Mutation_p.I1610M			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein						calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CGCTGCGGATCCAGCTGGAGC	0.637																																						ENST00000262873.7																			0				NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(4828-4830)atC>atG		myosin, heavy chain 7B, cardiac muscle, beta							58.0	68.0	65.0					20																	33587632		2026	4175	6201	SO:0001628	intergenic_variant	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33587632C>G	AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 158"""	608430	"""chromosome 20 open reading frame 188"""	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319		20.37:g.33587632C>G							p.I1610M	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		36	4922	+			1568					E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Missense_Mutation	SNP	ENST00000252015.2	37	c.4830C>G	CCDS13246.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.706119	0.48412	.	.	ENSG00000078814	ENST00000262873	T	0.78126	-1.15	4.33	2.39	0.29439	Myosin tail (1);	0.000000	0.35436	N	0.003219	T	0.78052	0.4223	M	0.76574	2.34	0.36169	D	0.848635	P	0.49696	0.927	P	0.48952	0.596	T	0.78892	-0.2025	10	0.51188	T	0.08	.	6.2695	0.20947	0.1498:0.6981:0.0:0.152	.	1568	A7E2Y1	MYH7B_HUMAN	M	1610	ENSP00000262873:I1610M	ENSP00000262873:I1610M	I	+	3	3	MYH7B	33051293	0.953000	0.32496	1.000000	0.80357	0.998000	0.95712	0.523000	0.22925	0.483000	0.27608	0.558000	0.71614	ATC		0.637	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2	NM_015638		16	44	0	0	0	1	0	16	44				
CADM2	253559	broad.mit.edu	37	3	85961650	85961650	+	Silent	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:85961650C>T	ENST00000407528.2	+	5	692	c.630C>T	c.(628-630)ctC>ctT	p.L210L	CADM2_ENST00000405615.2_Silent_p.L212L|CADM2_ENST00000383699.3_Silent_p.L219L	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	210	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		ACGAATCCCTCAATGCCACCC	0.498																																						ENST00000383699.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38						c.(655-657)ctC>ctT		cell adhesion molecule 2							111.0	90.0	97.0					3																	85961650		2203	4300	6503	SO:0001819	synonymous_variant	253559				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane		g.chr3:85961650C>T	AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	29849	protein-coding gene	gene with protein product	"""nectin-like 3"""	609938	"""immunoglobulin superfamily, member 4D"""	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.630C>T	3.37:g.85961650C>T						CADM2_ENST00000405615.2_Silent_p.L212L|CADM2_ENST00000407528.2_Silent_p.L210L	p.L219L	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)	6	1284	+		Lung NSC(201;0.0148)	210			Ig-like C2-type 1.		G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Silent	SNP	ENST00000407528.2	37	c.657C>T	CCDS54614.1																																																																																				0.498	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1	NM_153184		10	30	0	0	0	1	0	10	30				
SAFB	6294	broad.mit.edu	37	19	5668195	5668195	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:5668195G>A	ENST00000292123.5	+	21	2748	c.2641G>A	c.(2641-2643)Ggg>Agg	p.G881R	SAFB_ENST00000433404.1_Missense_Mutation_p.G713R|SAFB_ENST00000454510.1_Missense_Mutation_p.G814R|SAFB_ENST00000592224.1_Missense_Mutation_p.G882R|SAFB_ENST00000588852.1_Missense_Mutation_p.G883R|SAFB_ENST00000538656.1_Missense_Mutation_p.G725R	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	881	Gly-rich.|Interaction with SAFB2.				chromatin organization (GO:0006325)|growth (GO:0040007)|hormone metabolic process (GO:0042445)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		TGCCCCAGGCGGGGCCTCCCG	0.682																																					Colon(88;338 1345 6184 8214 20897)	ENST00000292123.5																			0				breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23						c.(2641-2643)Ggg>Agg		scaffold attachment factor B							37.0	47.0	44.0					19																	5668195		2199	4300	6499	SO:0001583	missense	6294				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding	g.chr19:5668195G>A	L43631	CCDS12142.1, CCDS56077.1, CCDS59339.1, CCDS59340.1	19p13.3-p13.2	2013-02-12				ENSG00000160633		"""RNA binding motif (RRM) containing"""	10520	protein-coding gene	gene with protein product	"""Hsp27 ERE-TATA binding protein"""	602895				9605873, 8600450	Standard	NM_002967		Approved	HET, SAFB1	uc002mcg.3	Q15424		ENST00000292123.5:c.2641G>A	19.37:g.5668195G>A	ENSP00000292123:p.Gly881Arg					SAFB_ENST00000592224.1_Missense_Mutation_p.G882R|SAFB_ENST00000538656.1_Missense_Mutation_p.G725R|SAFB_ENST00000454510.1_Missense_Mutation_p.G814R|SAFB_ENST00000433404.1_Missense_Mutation_p.G713R|SAFB_ENST00000588852.1_Missense_Mutation_p.G883R	p.G881R	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)	21	2748	+			881			Gly-rich.|Interaction with SAFB2.		A0AV56|B7Z5B6|B7ZLP6|F5H0H3|O60406|Q59HH8	Missense_Mutation	SNP	ENST00000292123.5	37	c.2641G>A	CCDS12142.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.098523	0.56183	.	.	ENSG00000160633	ENST00000454510;ENST00000540206;ENST00000433404;ENST00000292123;ENST00000538656	T;T;T;T	0.11821	2.8;2.96;2.76;2.74	5.17	4.13	0.48395	.	0.147317	0.31438	N	0.007655	T	0.17365	0.0417	M	0.75777	2.31	0.35509	D	0.800434	B;B;B;B;B;B;B	0.16802	0.007;0.019;0.013;0.007;0.007;0.007;0.007	B;B;B;B;B;B;B	0.15052	0.005;0.005;0.012;0.005;0.005;0.005;0.005	T	0.09862	-1.0655	10	0.72032	D	0.01	-22.7864	8.79	0.34845	0.0826:0.1506:0.7668:0.0	.	682;725;814;880;883;881;882	B7Z1C7;B7Z2F6;F5H0H3;B7ZLP5;A0AV56;Q15424;B7ZLP6	.;.;.;.;.;SAFB1_HUMAN;.	R	814;778;713;881;725	ENSP00000415895:G814R;ENSP00000404545:G713R;ENSP00000292123:G881R;ENSP00000438880:G725R	ENSP00000292123:G881R	G	+	1	0	SAFB	5619195	1.000000	0.71417	0.826000	0.32828	0.987000	0.75469	6.144000	0.71762	1.306000	0.44926	0.585000	0.79938	GGG		0.682	SAFB-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451641.2			4	138	0	0	0	1	0	4	138				
FLVCR2	55640	broad.mit.edu	37	14	76091050	76091050	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr14:76091050C>T	ENST00000238667.4	+	3	1263	c.907C>T	c.(907-909)Cgg>Tgg	p.R303W	FLVCR2_ENST00000553587.1_Missense_Mutation_p.R51W|FLVCR2_ENST00000539311.1_Missense_Mutation_p.R98W|FLVCR2_ENST00000556856.1_Missense_Mutation_p.R51W|FLVCR2_ENST00000556241.1_3'UTR	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	303					heme transport (GO:0015886)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	heme binding (GO:0020037)|heme transporter activity (GO:0015232)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		TTCCATCGCCCGGCTCTTCAA	0.478																																						ENST00000238667.4																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(907-909)Cgg>Tgg		feline leukemia virus subgroup C cellular receptor family, member 2							116.0	111.0	113.0					14																	76091050		2203	4300	6503	SO:0001583	missense	55640				transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity	g.chr14:76091050C>T	AK000378	CCDS9844.1, CCDS55933.1	14q24.3	2013-05-22	2007-05-01	2007-05-01	ENSG00000119686	ENSG00000119686		"""Solute carriers"""	20105	protein-coding gene	gene with protein product		610865	"""chromosome 14 open reading frame 58"", ""feline leukemia virus subgroup C cellular receptor 2"""	C14orf58		16439531, 20206334	Standard	NM_017791		Approved	FLJ20371, MFSD7C	uc001xrs.2	Q9UPI3	OTTHUMG00000171487	ENST00000238667.4:c.907C>T	14.37:g.76091050C>T	ENSP00000238667:p.Arg303Trp					FLVCR2_ENST00000553587.1_Missense_Mutation_p.R51W|FLVCR2_ENST00000556241.1_3'UTR|FLVCR2_ENST00000539311.1_Missense_Mutation_p.R98W|FLVCR2_ENST00000556856.1_Missense_Mutation_p.R51W	p.R303W	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	3	1263	+			303					B7Z485|Q53ZT9|Q96JY3|Q9NX90	Missense_Mutation	SNP	ENST00000238667.4	37	c.907C>T	CCDS9844.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.805917	0.70682	.	.	ENSG00000119686	ENST00000238667;ENST00000539311;ENST00000555058;ENST00000553587;ENST00000556856	T;T;T;T;T	0.60299	0.2;0.2;0.2;0.2;0.2	6.02	6.02	0.97574	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.046453	0.85682	D	0.000000	T	0.80696	0.4672	M	0.89601	3.045	0.80722	D	1	D;D	0.71674	0.998;0.987	D;P	0.65140	0.932;0.846	D	0.83406	0.0025	10	0.72032	D	0.01	-1.9448	19.3122	0.94192	0.0:1.0:0.0:0.0	.	98;303	B7Z485;Q9UPI3	.;FLVC2_HUMAN	W	303;98;51;51;51	ENSP00000238667:R303W;ENSP00000443439:R98W;ENSP00000451104:R51W;ENSP00000451603:R51W;ENSP00000452468:R51W	ENSP00000238667:R303W	R	+	1	2	AC007182.1	75160803	0.994000	0.37717	0.985000	0.45067	0.728000	0.41692	3.304000	0.51866	2.865000	0.98341	0.655000	0.94253	CGG		0.478	FLVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413672.1	NM_017791		4	91	0	0	0	1	0	4	91				
N4BP3	23138	broad.mit.edu	37	5	177546744	177546744	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:177546744G>C	ENST00000274605.5	+	2	519	c.160G>C	c.(160-162)Gag>Cag	p.E54Q		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3	54						cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGCCAGCGTGAGTTCCTCAG	0.657																																						ENST00000274605.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						c.(160-162)Gag>Cag		NEDD4 binding protein 3							79.0	78.0	78.0					5																	177546744		2203	4300	6503	SO:0001583	missense	23138					cytoplasmic vesicle membrane		g.chr5:177546744G>C	AB002339	CCDS34307.1	5q35.3	2012-05-17				ENSG00000145911			29852	protein-coding gene	gene with protein product						9205841, 11717310	Standard	XM_006714834		Approved	LZTS4	uc003mik.1	O15049		ENST00000274605.5:c.160G>C	5.37:g.177546744G>C	ENSP00000274605:p.Glu54Gln						p.E54Q	NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	519	+	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	54					B4DIL3|D3DWP3|Q6ZSQ6|Q7Z6I3	Missense_Mutation	SNP	ENST00000274605.5	37	c.160G>C	CCDS34307.1	.	.	.	.	.	.	.	.	.	.	G	19.96	3.923979	0.73213	.	.	ENSG00000145911	ENST00000274605	T	0.00543	6.68	5.62	5.62	0.85841	.	0.120982	0.56097	D	0.000022	T	0.01730	0.0055	L	0.50333	1.59	0.53688	D	0.999979	D	0.76494	0.999	D	0.80764	0.994	T	0.70637	-0.4817	10	0.59425	D	0.04	-30.2623	17.1501	0.86775	0.0:0.0:1.0:0.0	.	54	O15049	N4BP3_HUMAN	Q	54	ENSP00000274605:E54Q	ENSP00000274605:E54Q	E	+	1	0	N4BP3	177479350	1.000000	0.71417	0.981000	0.43875	0.162000	0.22319	8.208000	0.89748	2.647000	0.89833	0.591000	0.81541	GAG		0.657	N4BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373552.2	NM_015111		40	105	0	0	0	1	0	40	105				
EPHA10	284656	broad.mit.edu	37	1	38197201	38197201	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:38197201G>A	ENST00000373048.4	-	7	1544	c.1545C>T	c.(1543-1545)acC>acT	p.T515T	EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Silent_p.T515T|EPHA10_ENST00000330210.7_Silent_p.T10T|EPHA10_ENST00000540011.1_Silent_p.T10T	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	515	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGTTGGTGACGGTGACTGTGG	0.597																																						ENST00000373048.4																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1543-1545)acC>acT		EPH receptor A10							108.0	109.0	109.0					1																	38197201		1950	4145	6095	SO:0001819	synonymous_variant	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38197201G>A	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.1545C>T	1.37:g.38197201G>A						EPHA10_ENST00000427468.2_Silent_p.T515T|EPHA10_ENST00000330210.7_Silent_p.T10T|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000540011.1_Silent_p.T10T	p.T515T	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN			7	1544	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	515			Fibronectin type-III 2.		A4FU89|J3KPB5|Q6NW42	Silent	SNP	ENST00000373048.4	37	c.1545C>T	CCDS41305.1																																																																																				0.597	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		4	213	0	0	0	1	0	4	213				
GSTM3	2947	broad.mit.edu	37	1	110279755	110279755	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:110279755G>T	ENST00000540225.1	-	9	926	c.616C>A	c.(616-618)Cag>Aag	p.Q206K	GSTM3_ENST00000488824.1_5'UTR|GSTM3_ENST00000361066.2_Missense_Mutation_p.Q206K|GSTM3_ENST00000256594.3_Missense_Mutation_p.Q206K|RP4-735C1.4_ENST00000431955.1_RNA			P21266	GSTM3_HUMAN	glutathione S-transferase mu 3 (brain)	206	GST C-terminal.				cellular detoxification of nitrogen compound (GO:0070458)|establishment of blood-nerve barrier (GO:0008065)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|nitrobenzene metabolic process (GO:0018916)|response to estrogen (GO:0043627)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|skin(1)	9		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)|Vitamin E(DB00163)	TTGCAGAACTGATCAGACTGT	0.473																																						ENST00000540225.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|skin(1)	9						c.(616-618)Cag>Aag		glutathione S-transferase mu 3 (brain)	Glutathione(DB00143)						119.0	107.0	111.0					1																	110279755		2203	4300	6503	SO:0001583	missense	2947				establishment of blood-nerve barrier|glutathione metabolic process|response to estrogen stimulus	cytoplasm	glutathione transferase activity|identical protein binding	g.chr1:110279755G>T	BC000088	CCDS812.1	1p13.3	2012-06-21	2008-11-26		ENSG00000134202	ENSG00000134202	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4635	protein-coding gene	gene with protein product		138390	"""glutathione S-transferase M3 (brain)"""			2345169	Standard	NM_000849		Approved	GST5	uc001dyo.2	P21266	OTTHUMG00000011640	ENST00000540225.1:c.616C>A	1.37:g.110279755G>T	ENSP00000444978:p.Gln206Lys					GSTM3_ENST00000488824.1_5'UTR|GSTM3_ENST00000256594.3_Missense_Mutation_p.Q206K|GSTM3_ENST00000361066.2_Missense_Mutation_p.Q206K|RP4-735C1.4_ENST00000431955.1_RNA	p.Q206K			P21266	GSTM3_HUMAN		Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228)	9	926	-		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)	206			GST C-terminal.		O60550|Q96HA3	Missense_Mutation	SNP	ENST00000540225.1	37	c.616C>A	CCDS812.1	.	.	.	.	.	.	.	.	.	.	G	5.577	0.291367	0.10567	.	.	ENSG00000134202	ENST00000540225;ENST00000256594;ENST00000361066	T;T;T	0.03301	3.98;3.98;3.98	5.53	2.46	0.29980	Glutathione S-transferase, C-terminal-like (1);Glutathione S-transferase/chloride channel, C-terminal (1);	0.220747	0.43919	D	0.000512	T	0.00496	0.0016	N	0.01081	-1.03	0.25873	N	0.983683	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.49634	-0.8919	10	0.44086	T	0.13	-20.8048	10.0385	0.42144	0.0727:0.0:0.6722:0.2551	.	212;206	Q59EJ5;P21266	.;GSTM3_HUMAN	K	206	ENSP00000444978:Q206K;ENSP00000256594:Q206K;ENSP00000354357:Q206K	ENSP00000256594:Q206K	Q	-	1	0	GSTM3	110081278	1.000000	0.71417	1.000000	0.80357	0.145000	0.21501	2.048000	0.41278	0.889000	0.36185	-0.152000	0.13540	CAG		0.473	GSTM3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032182.1	NM_000849		8	50	1	0	0.307466	1	0.307466	8	50				
TAS2R16	50833	broad.mit.edu	37	7	122634944	122634944	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr7:122634944C>G	ENST00000249284.2	-	1	810	c.745G>C	c.(745-747)Ggt>Cgt	p.G249R		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	249					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	bitter taste receptor activity (GO:0033038)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AATAGAGTACCTATAATGGTG	0.428																																						ENST00000249284.2																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(745-747)Ggt>Cgt		taste receptor, type 2, member 16							128.0	122.0	124.0					7																	122634944		2203	4300	6503	SO:0001583	missense	50833				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding	g.chr7:122634944C>G	AF227139	CCDS5785.1	7q31.1-q31.3	2012-08-22			ENSG00000128519	ENSG00000128519		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14921	protein-coding gene	gene with protein product		604867				10761934	Standard	NM_016945		Approved	T2R16	uc003vkl.1	Q9NYV7	OTTHUMG00000157090	ENST00000249284.2:c.745G>C	7.37:g.122634944C>G	ENSP00000249284:p.Gly249Arg						p.G249R	NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN			1	810	-			249					A4D0X2|Q502V3|Q549U8|Q645W1	Missense_Mutation	SNP	ENST00000249284.2	37	c.745G>C	CCDS5785.1	.	.	.	.	.	.	.	.	.	.	C	3.846	-0.032823	0.07543	.	.	ENSG00000128519	ENST00000249284	T	0.37235	1.21	4.67	-4.22	0.03800	.	1.821080	0.02999	N	0.147885	T	0.23370	0.0565	L	0.55834	1.745	0.09310	N	1	P	0.36633	0.562	B	0.31191	0.125	T	0.13683	-1.0500	10	0.15066	T	0.55	.	0.4122	0.00443	0.3781:0.2297:0.1393:0.2529	.	249	Q9NYV7	T2R16_HUMAN	R	249	ENSP00000249284:G249R	ENSP00000249284:G249R	G	-	1	0	TAS2R16	122422180	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.558000	0.02164	-1.055000	0.03209	-0.211000	0.12701	GGT		0.428	TAS2R16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347409.1	NM_016945		38	121	0	0	0	1	0	38	121				
HNF1B	6928	broad.mit.edu	37	17	36099454	36099454	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:36099454C>T	ENST00000225893.4	-	2	882	c.521G>A	c.(520-522)aGa>aAa	p.R174K	HNF1B_ENST00000560016.1_Missense_Mutation_p.R174K|HNF1B_ENST00000561193.1_Missense_Mutation_p.R174K|HNF1B_ENST00000427275.2_Missense_Mutation_p.R174K	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	174					anterior/posterior pattern specification (GO:0009952)|branching morphogenesis of an epithelial tube (GO:0048754)|embryonic digestive tract morphogenesis (GO:0048557)|endocrine pancreas development (GO:0031018)|endodermal cell fate specification (GO:0001714)|epithelial cell proliferation (GO:0050673)|genitalia development (GO:0048806)|hepatoblast differentiation (GO:0061017)|hindbrain development (GO:0030902)|inner cell mass cell differentiation (GO:0001826)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|mesonephric duct formation (GO:0072181)|negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis (GO:0061296)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric nephron tubule development (GO:0039020)|pronephros development (GO:0048793)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of endodermal cell fate specification (GO:0042663)|regulation of pronephros size (GO:0035565)|regulation of Wnt signaling pathway (GO:0030111)|response to glucose (GO:0009749)|ureteric bud elongation (GO:0060677)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			TCGTTGCTTTCTGACGTACCA	0.562																																					Colon(71;102 1179 9001 27917 43397)	ENST00000225893.4																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28						c.(520-522)aGa>aAa		HNF1 homeobox B							167.0	144.0	152.0					17																	36099454		2203	4300	6503	SO:0001583	missense	6928				endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:36099454C>T	BC017714	CCDS11324.1, CCDS58538.1	17q12	2014-05-06	2007-08-24	2007-08-24	ENSG00000108753	ENSG00000275410		"""Homeoboxes / HNF class"""	11630	protein-coding gene	gene with protein product		189907	"""transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor"""	TCF2		1677179, 10484768	Standard	NM_000458		Approved	LFB3, VHNF1, HNF1beta, MODY5	uc002hok.4	P35680	OTTHUMG00000188478	ENST00000225893.4:c.521G>A	17.37:g.36099454C>T	ENSP00000225893:p.Arg174Lys					HNF1B_ENST00000427275.2_Missense_Mutation_p.R174K|HNF1B_ENST00000560016.1_Missense_Mutation_p.R174K|HNF1B_ENST00000561193.1_Missense_Mutation_p.R174K	p.R174K	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	STAD - Stomach adenocarcinoma(1;0.0142)		2	882	-		Breast(25;0.00765)|Ovarian(249;0.15)	174					B4DKM3|E0YMJ9	Missense_Mutation	SNP	ENST00000225893.4	37	c.521G>A	CCDS11324.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.044345	0.75732	.	.	ENSG00000108753	ENST00000225893;ENST00000427275;ENST00000544593;ENST00000539087	D;D	0.98822	-5.16;-5.16	5.96	5.96	0.96718	Hepatocyte nuclear factor 1, N-terminal (1);Lambda repressor-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	D	0.97980	0.9335	L	0.46885	1.475	0.80722	D	1	B;P	0.43231	0.269;0.801	B;P	0.48089	0.234;0.566	D	0.97849	1.0273	10	0.40728	T	0.16	-26.8581	19.3889	0.94570	0.0:1.0:0.0:0.0	.	174;174	E0YMJ6;P35680	.;HNF1B_HUMAN	K	174;174;174;62	ENSP00000225893:R174K;ENSP00000412212:R174K	ENSP00000225893:R174K	R	-	2	0	HNF1B	33173567	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.445000	0.80570	2.826000	0.97356	0.655000	0.94253	AGA		0.562	HNF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256807.3	NM_000458		9	91	0	0	0	1	0	9	91				
APTX	54840	broad.mit.edu	37	9	32987599	32987599	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr9:32987599G>C	ENST00000379819.1	-	4	467	c.468C>G	c.(466-468)agC>agG	p.S156R	APTX_ENST00000309615.3_Missense_Mutation_p.S156R|APTX_ENST00000468275.1_Missense_Mutation_p.S142R|APTX_ENST00000476858.1_Missense_Mutation_p.S102R|APTX_ENST00000379817.2_Missense_Mutation_p.S142R|APTX_ENST00000436040.2_Missense_Mutation_p.S142R|APTX_ENST00000463596.1_Missense_Mutation_p.S142R|APTX_ENST00000397172.3_Intron|APTX_ENST00000379825.2_Missense_Mutation_p.S156R|APTX_ENST00000379813.3_Missense_Mutation_p.S142R			Q7Z2E3	APTX_HUMAN	aprataxin	156					cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|dephosphorylation (GO:0016311)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA ligation (GO:0006266)|double-strand break repair (GO:0006302)|polynucleotide 3' dephosphorylation (GO:0098506)|regulation of protein stability (GO:0031647)|response to hydrogen peroxide (GO:0042542)|single strand break repair (GO:0000012)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA 5'-adenosine monophosphate hydrolase activity (GO:0033699)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|phosphoglycolate phosphatase activity (GO:0008967)|phosphoprotein binding (GO:0051219)|polynucleotide 3'-phosphatase activity (GO:0046403)|protein N-terminus binding (GO:0047485)			endometrium(1)|lung(1)|ovary(2)|prostate(2)	6			LUSC - Lung squamous cell carcinoma(29;0.0302)	GBM - Glioblastoma multiforme(74;0.105)		GGCCAGAGTTGCTCCCAGGTT	0.483								Editing and processing nucleases																														ENST00000379817.2																			0				endometrium(1)|lung(1)|ovary(2)|prostate(2)	6						c.(424-426)agC>agG	Editing and processing nucleases	aprataxin							134.0	129.0	131.0					9																	32987599		2203	4300	6503	SO:0001583	missense	54840				cell death|double-strand break repair|regulation of protein stability|response to hydrogen peroxide|single strand break repair	chromatin|nucleolus|nucleoplasm	chromatin binding|damaged DNA binding|DNA 5'-adenosine monophosphate hydrolase activity|double-stranded DNA binding|double-stranded RNA binding|phosphoglycolate phosphatase activity|phosphoprotein binding|polynucleotide 3'-phosphatase activity|protein N-terminus binding|zinc ion binding	g.chr9:32987599G>C	AK000164	CCDS47956.1, CCDS56568.1, CCDS75827.1	9p13.3	2014-01-28	2003-04-03		ENSG00000137074	ENSG00000137074			15984	protein-coding gene	gene with protein product		606350	"""ataxia 1, early onset with hypoalbuminemia"""	AXA1		11586299, 11586300	Standard	NM_175069		Approved	FLJ20157, AOA, AOA1, EAOH, EOAHA	uc003zry.3	Q7Z2E3	OTTHUMG00000019759	ENST00000379819.1:c.468C>G	9.37:g.32987599G>C	ENSP00000369147:p.Ser156Arg					APTX_ENST00000379825.2_Missense_Mutation_p.S156R|APTX_ENST00000379813.3_Missense_Mutation_p.S142R|APTX_ENST00000397172.3_Intron|APTX_ENST00000476858.1_Missense_Mutation_p.S102R|APTX_ENST00000309615.3_Missense_Mutation_p.S156R|APTX_ENST00000468275.1_Missense_Mutation_p.S142R|APTX_ENST00000463596.1_Missense_Mutation_p.S142R|APTX_ENST00000379819.1_Missense_Mutation_p.S156R|APTX_ENST00000436040.2_Missense_Mutation_p.S142R	p.S142R			Q7Z2E3	APTX_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0302)	GBM - Glioblastoma multiforme(74;0.105)	3	622	-			156					A8MTN4|D3DRK9|D3DRL0|Q0P662|Q5T781|Q5T782|Q5T784|Q6JV81|Q6JV82|Q6JV85|Q7Z2F3|Q7Z336|Q7Z5R5|Q7Z6V7|Q7Z6V8|Q9NXM5	Missense_Mutation	SNP	ENST00000379819.1	37	c.426C>G		.	.	.	.	.	.	.	.	.	.	G	0.254	-1.004148	0.02112	.	.	ENSG00000137074	ENST00000379825;ENST00000309615;ENST00000379817;ENST00000436040;ENST00000379819;ENST00000468275;ENST00000463596;ENST00000476858;ENST00000344355;ENST00000379813;ENST00000473221;ENST00000477119	D;D;D;T;D;D;D;D;D;D	0.91521	-1.88;-1.88;-1.87;0.9;-1.88;-1.87;-1.87;-2.86;-1.87;-2.39	5.37	1.37	0.22104	.	0.947215	0.09089	N	0.850069	D	0.86855	0.6033	L	0.56769	1.78	0.09310	N	1	B;B;P;P	0.39748	0.013;0.222;0.659;0.686	B;B;B;B	0.40066	0.008;0.074;0.318;0.169	T	0.71794	-0.4485	10	0.15952	T	0.53	-0.0846	6.9136	0.24347	0.3892:0.0:0.6108:0.0	.	102;156;88;156	C9JZ40;Q5T782;Q7Z2E3-5;Q7Z2E3	.;.;.;APTX_HUMAN	R	156;156;142;142;156;142;142;102;156;142;102;88	ENSP00000369153:S156R;ENSP00000311547:S156R;ENSP00000369145:S142R;ENSP00000400806:S142R;ENSP00000369147:S156R;ENSP00000420263:S142R;ENSP00000419846:S142R;ENSP00000419042:S102R;ENSP00000369141:S142R;ENSP00000419020:S102R	ENSP00000311547:S156R	S	-	3	2	APTX	32977599	0.006000	0.16342	0.005000	0.12908	0.087000	0.18053	1.001000	0.29783	0.066000	0.16515	0.650000	0.86243	AGC		0.483	APTX-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000052028.2	NM_017692		28	95	0	0	0	1	0	28	95				
USP45	85015	broad.mit.edu	37	6	99894132	99894132	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:99894132C>T	ENST00000327681.6	-	14	2048	c.1516G>A	c.(1516-1518)Gag>Aag	p.E506K	USP45_ENST00000369233.2_Missense_Mutation_p.E458K|USP45_ENST00000500704.2_Missense_Mutation_p.E506K|USP45_ENST00000392738.2_Missense_Mutation_p.E186K|USP45_ENST00000539675.1_Intron	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	506	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		TCTGAAGGCTCACTGTCAGCA	0.493																																						ENST00000327681.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22						c.(1516-1518)Gag>Aag		ubiquitin specific peptidase 45							89.0	75.0	80.0					6																	99894132		2203	4300	6503	SO:0001583	missense	85015				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chr6:99894132C>T	AL832030	CCDS34501.1	6q16.2	2008-02-05	2005-08-08		ENSG00000123552	ENSG00000123552		"""Ubiquitin-specific peptidases"""	20080	protein-coding gene	gene with protein product			"""ubiquitin specific protease 45"""			12838346	Standard	NM_001080481		Approved	MGC14793	uc003ppx.2	Q70EL2	OTTHUMG00000015267	ENST00000327681.6:c.1516G>A	6.37:g.99894132C>T	ENSP00000333376:p.Glu506Lys					USP45_ENST00000500704.2_Missense_Mutation_p.E506K|USP45_ENST00000369233.2_Missense_Mutation_p.E458K|USP45_ENST00000392738.2_Missense_Mutation_p.E186K|USP45_ENST00000539675.1_Intron	p.E506K	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0718)	14	2048	-		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)	506					B2RXG0|Q5T062|Q86T44|Q86TC0|Q9BRU1	Missense_Mutation	SNP	ENST00000327681.6	37	c.1516G>A	CCDS34501.1	.	.	.	.	.	.	.	.	.	.	C	36	5.963706	0.97151	.	.	ENSG00000123552	ENST00000392738;ENST00000500704;ENST00000327681;ENST00000369233	T;T;T;T	0.23348	1.91;3.58;3.58;3.53	5.71	5.71	0.89125	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.39462	0.1079	L	0.56769	1.78	0.80722	D	1	P;D	0.61697	0.955;0.99	P;D	0.65443	0.759;0.935	T	0.02126	-1.1209	10	0.36615	T	0.2	.	19.8644	0.96799	0.0:1.0:0.0:0.0	.	506;186	Q70EL2;Q70EL2-3	UBP45_HUMAN;.	K	186;506;506;458	ENSP00000376495:E186K;ENSP00000424372:E506K;ENSP00000333376:E506K;ENSP00000358236:E458K	ENSP00000333376:E506K	E	-	1	0	USP45	100000853	1.000000	0.71417	0.983000	0.44433	0.905000	0.53344	7.022000	0.76431	2.691000	0.91804	0.655000	0.94253	GAG		0.493	USP45-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041609.2	NM_032929		15	43	0	0	0	1	0	15	43				
COL4A2	1284	broad.mit.edu	37	13	111155623	111155623	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr13:111155623G>C	ENST00000360467.5	+	42	4339	c.4033G>C	c.(4033-4035)Gaa>Caa	p.E1345Q	COL4A2-AS1_ENST00000417970.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1345	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TCTCCCAGGAGAAAAAGGTAA	0.627																																						ENST00000360467.5																			0				NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(4033-4035)Gaa>Caa		collagen, type IV, alpha 2							31.0	35.0	34.0					13																	111155623		1907	4107	6014	SO:0001583	missense	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111155623G>C	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.4033G>C	13.37:g.111155623G>C	ENSP00000353654:p.Glu1345Gln					COL4A2-AS1_ENST00000417970.2_RNA	p.E1345Q	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		42	4339	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	1345			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	c.4033G>C	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	G	5.905	0.351066	0.11182	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.93366	-3.21	4.75	3.9	0.45041	.	0.493405	0.17225	N	0.182191	D	0.93350	0.7880	L	0.47190	1.495	0.28853	N	0.895961	D	0.63046	0.992	D	0.65140	0.932	D	0.86371	0.1723	10	0.17832	T	0.49	.	9.2571	0.37590	0.0845:0.1596:0.7559:0.0	.	1345	P08572	CO4A2_HUMAN	Q	1345	ENSP00000353654:E1345Q	ENSP00000257309:E1345Q	E	+	1	0	COL4A2	109953624	0.998000	0.40836	0.995000	0.50966	0.103000	0.19146	1.243000	0.32767	2.172000	0.68678	0.555000	0.69702	GAA		0.627	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		13	31	0	0	0	1	0	13	31				
OR5M8	219484	broad.mit.edu	37	11	56258304	56258304	+	Silent	SNP	T	T	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:56258304T>A	ENST00000327216.2	-	1	567	c.543A>T	c.(541-543)ccA>ccT	p.P181P		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					TAATCAGTGGTGGGTCCGCAC	0.463																																						ENST00000327216.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(541-543)ccA>ccT		olfactory receptor, family 5, subfamily M, member 8							92.0	92.0	92.0					11																	56258304		2201	4296	6497	SO:0001819	synonymous_variant	219484				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56258304T>A	AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"""GPCR / Class A : Olfactory receptors"""	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.543A>T	11.37:g.56258304T>A							p.P181P	NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN			1	567	-	Esophageal squamous(21;0.00352)		181					B2RNM5|Q6IEW3|Q96RB8	Silent	SNP	ENST00000327216.2	37	c.543A>T	CCDS31533.1																																																																																				0.463	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1	NM_001005282		35	100	0	0	0	1	0	35	100				
GOLGB1	2804	broad.mit.edu	37	3	121383839	121383839	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:121383839G>A	ENST00000340645.5	-	21	9704	c.9579C>T	c.(9577-9579)atC>atT	p.I3193I	GOLGB1_ENST00000393667.3_Silent_p.I3203I	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	3193					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		AGGAGCCAATGATAGGAGTCC	0.468																																						ENST00000393667.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(9607-9609)atC>atT		golgin B1							103.0	98.0	100.0					3																	121383839		2203	4300	6503	SO:0001819	synonymous_variant	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121383839G>A	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.9579C>T	3.37:g.121383839G>A						GOLGB1_ENST00000340645.5_Silent_p.I3193I	p.I3203I	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	21	9719	-			3193					B2ZZ91|D3DN92|E7EP74|Q14398	Silent	SNP	ENST00000340645.5	37	c.9609C>T	CCDS3004.1																																																																																				0.468	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		13	43	0	0	0	1	0	13	43				
REV3L	5980	broad.mit.edu	37	6	111621277	111621277	+	Missense_Mutation	SNP	C	C	T	rs375494302		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:111621277C>T	ENST00000358835.3	-	33	9789	c.9335G>A	c.(9334-9336)cGa>cAa	p.R3112Q	RP5-1112D6.7_ENST00000607386.1_lincRNA|REV3L_ENST00000368802.3_Missense_Mutation_p.R3112Q|REV3L_ENST00000368805.1_Missense_Mutation_p.R3112Q|REV3L_ENST00000462119.1_5'UTR|REV3L_ENST00000435970.1_Missense_Mutation_p.R3034Q			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	3112					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TCTATTTACTCGGGAGAGTTT	0.388								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(9100-9102)cGa>cAa	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit		C	GLN/ARG	0,4406		0,0,2203	139.0	143.0	141.0		9335	4.9	1.0	6		141	1,8599	1.2+/-3.3	0,1,4299	no	missense	REV3L	NM_002912.3	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	3112/3131	111621277	1,13005	2203	4300	6503	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111621277C>T	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.9335G>A	6.37:g.111621277C>T	ENSP00000351697:p.Arg3112Gln					REV3L_ENST00000462119.1_5'UTR|REV3L_ENST00000368802.3_Missense_Mutation_p.R3112Q|REV3L_ENST00000368805.1_Missense_Mutation_p.R3112Q|REV3L_ENST00000358835.3_Missense_Mutation_p.R3112Q	p.R3034Q			O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	34	9917	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	3112					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.9101G>A	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	C	14.31	2.496854	0.44352	0.0	1.16E-4	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.02050	4.57;4.57;4.57;4.48	5.78	4.91	0.64330	.	0.074893	0.52532	N	0.000072	T	0.01124	0.0037	L	0.41027	1.25	0.40707	D	0.982536	B	0.18461	0.028	B	0.14023	0.01	T	0.53606	-0.8415	10	0.26408	T	0.33	-4.8456	14.8613	0.70384	0.0:0.9314:0.0:0.0686	.	3112	O60673	DPOLZ_HUMAN	Q	3112;3112;3112;3034	ENSP00000357792:R3112Q;ENSP00000357795:R3112Q;ENSP00000351697:R3112Q;ENSP00000402003:R3034Q	ENSP00000351697:R3112Q	R	-	2	0	REV3L	111727970	1.000000	0.71417	1.000000	0.80357	0.323000	0.28346	4.912000	0.63335	1.452000	0.47756	0.563000	0.77884	CGA		0.388	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		29	77	0	0	0	1	0	29	77				
KIAA0232	9778	broad.mit.edu	37	4	6863601	6863601	+	Missense_Mutation	SNP	C	C	G	rs376546237		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr4:6863601C>G	ENST00000307659.5	+	7	1947	c.1492C>G	c.(1492-1494)Ctg>Gtg	p.L498V	KIAA0232_ENST00000425103.1_Missense_Mutation_p.L498V	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	498							ATP binding (GO:0005524)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						CAATAAATACCTGGATGATAT	0.383																																						ENST00000307659.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						c.(1492-1494)Ctg>Gtg		KIAA0232							57.0	53.0	54.0					4																	6863601		1843	4092	5935	SO:0001583	missense	9778						ATP binding	g.chr4:6863601C>G	D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.1492C>G	4.37:g.6863601C>G	ENSP00000303928:p.Leu498Val					KIAA0232_ENST00000425103.1_Missense_Mutation_p.L498V	p.L498V	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN			7	1947	+			498					A7E2D2	Missense_Mutation	SNP	ENST00000307659.5	37	c.1492C>G	CCDS43209.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.642514	0.29246	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.9	-0.929	0.10444	.	0.000000	0.64402	D	0.000001	T	0.56046	0.1959	M	0.66939	2.045	0.44694	D	0.997686	D	0.55385	0.971	P	0.47162	0.54	T	0.59721	-0.7401	9	0.72032	D	0.01	-14.2116	10.1734	0.42924	0.0:0.2925:0.0:0.7075	.	498	Q92628	K0232_HUMAN	V	498	.	ENSP00000303928:L498V	L	+	1	2	KIAA0232	6914502	1.000000	0.71417	0.148000	0.22405	0.958000	0.62258	2.015000	0.40961	-0.175000	0.10725	0.655000	0.94253	CTG		0.383	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2	NM_014743		12	54	0	0	0	1	0	12	54				
CNP	1267	broad.mit.edu	37	17	40124023	40124023	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:40124023G>A	ENST00000393892.3	+	3	934	c.790G>A	c.(790-792)Ggg>Agg	p.G264R	CNP_ENST00000591072.1_Missense_Mutation_p.G29R|CNP_ENST00000393888.1_Missense_Mutation_p.G244R|CNP_ENST00000472031.1_Silent_p.P39P	NM_033133.4	NP_149124.3	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase	264					adult locomotory behavior (GO:0008344)|aging (GO:0007568)|axonogenesis (GO:0007409)|cyclic nucleotide catabolic process (GO:0009214)|microtubule cytoskeleton organization (GO:0000226)|oligodendrocyte differentiation (GO:0048709)|regulation of mitochondrial membrane permeability (GO:0046902)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule (GO:0005874)|microvillus (GO:0005902)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|myelin sheath abaxonal region (GO:0035748)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity (GO:0004113)|cyclic nucleotide binding (GO:0030551)|RNA binding (GO:0003723)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	9		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)		GAAGGCTCCCGGGGCAGAGGA	0.567																																						ENST00000393892.2																			0				breast(1)|kidney(2)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	9						c.(790-792)Ggg>Agg		2',3'-cyclic nucleotide 3' phosphodiesterase							42.0	42.0	42.0					17																	40124023		1947	4126	6073	SO:0001583	missense	1267				cell killing|cyclic nucleotide catabolic process|RNA metabolic process|synaptic transmission	extracellular space|melanosome	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity|ATP binding|protein binding	g.chr17:40124023G>A		CCDS11414.2	17q21	2008-02-05			ENSG00000173786	ENSG00000173786	3.1.4.37		2158	protein-coding gene	gene with protein product		123830				1322358	Standard	XM_006721701		Approved		uc002hyl.1	P09543	OTTHUMG00000133502	ENST00000393892.3:c.790G>A	17.37:g.40124023G>A	ENSP00000377470:p.Gly264Arg					CNP_ENST00000472031.1_Silent_p.P39P|CNP_ENST00000393888.1_Missense_Mutation_p.G244R|CNP_ENST00000591072.1_Missense_Mutation_p.G29R	p.G264R	NM_033133.4	NP_149124.3	P09543	CN37_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)	3	934	+		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)	264						Missense_Mutation	SNP	ENST00000393892.3	37	c.790G>A	CCDS11414.2	.	.	.	.	.	.	.	.	.	.	G	16.14	3.039932	0.55003	.	.	ENSG00000173786	ENST00000393892;ENST00000310262;ENST00000393888	T;T	0.64260	-0.09;-0.09	4.99	3.99	0.46301	RNA ligase/cyclic nucleotide phosphodiesterase (1);	0.069522	0.56097	D	0.000025	T	0.76877	0.4049	M	0.69823	2.125	0.51767	D	0.999931	D;D	0.89917	0.999;1.0	D;D	0.74674	0.933;0.984	T	0.80269	-0.1453	10	0.87932	D	0	-31.0355	14.3162	0.66452	0.0:0.0:0.8502:0.1498	.	141;264	B4DI06;P09543	.;CN37_HUMAN	R	264;140;244	ENSP00000377470:G264R;ENSP00000377466:G244R	ENSP00000309643:G140R	G	+	1	0	CNP	37377549	1.000000	0.71417	0.768000	0.31515	0.189000	0.23516	8.482000	0.90439	1.284000	0.44531	0.462000	0.41574	GGG		0.567	CNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257443.2			3	47	0	0	0	1	0	3	47				
MYO1A	4640	broad.mit.edu	37	12	57432611	57432611	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:57432611G>C	ENST00000442789.2	-	17	1802	c.1515C>G	c.(1513-1515)atC>atG	p.I505M	MYO1A_ENST00000300119.3_Missense_Mutation_p.I505M|MYO1A_ENST00000544473.1_Missense_Mutation_p.I343M|MYO1A_ENST00000476795.1_5'UTR	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	505	Myosin motor.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CATAGTGGCAGATGCGGAAGC	0.587																																						ENST00000442789.2																			0				breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						c.(1513-1515)atC>atG		myosin IA							66.0	61.0	63.0					12																	57432611		2203	4300	6503	SO:0001583	missense	4640				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr12:57432611G>C	L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"""Myosins / Myosin superfamily : Class I"""	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.1515C>G	12.37:g.57432611G>C	ENSP00000393392:p.Ile505Met					MYO1A_ENST00000476795.1_5'UTR|MYO1A_ENST00000300119.3_Missense_Mutation_p.I505M|MYO1A_ENST00000544473.1_Missense_Mutation_p.I343M	p.I505M	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN			17	1802	-			505			Myosin head-like.		Q9UQD7	Missense_Mutation	SNP	ENST00000442789.2	37	c.1515C>G	CCDS8929.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.058938	0.55325	.	.	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000544473	T;T;T	0.78003	-1.14;-1.14;-1.14	4.55	4.55	0.56014	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.87966	0.6311	M	0.89353	3.025	0.43467	D	0.995677	D	0.89917	1.0	D	0.91635	0.999	D	0.88703	0.3217	10	0.72032	D	0.01	.	8.7313	0.34501	0.1018:0.0:0.8982:0.0	.	505	Q9UBC5	MYO1A_HUMAN	M	505;505;343	ENSP00000300119:I505M;ENSP00000393392:I505M;ENSP00000440514:I343M	ENSP00000300119:I505M	I	-	3	3	MYO1A	55718878	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.773000	0.38563	2.542000	0.85734	0.555000	0.69702	ATC		0.587	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379		11	54	0	0	0	1	0	11	54				
CHRM3	1131	broad.mit.edu	37	1	240072045	240072045	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:240072045G>C	ENST00000255380.4	+	5	2073	c.1294G>C	c.(1294-1296)Gag>Cag	p.E432Q		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	432					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	CATCCAGCTAGAGTCAGCCGT	0.552																																						ENST00000255380.4																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51						c.(1294-1296)Gag>Cag		cholinergic receptor, muscarinic 3	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)						47.0	48.0	48.0					1																	240072045		2203	4300	6503	SO:0001583	missense	1131				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr1:240072045G>C	U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.1294G>C	1.37:g.240072045G>C	ENSP00000255380:p.Glu432Gln						p.E432Q	NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	2073	+	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	432					Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	ENST00000255380.4	37	c.1294G>C	CCDS1616.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.400674	0.25291	.	.	ENSG00000133019	ENST00000255380	T	0.58940	0.3	5.97	5.97	0.96955	GPCR, rhodopsin-like superfamily (1);	0.442612	0.22461	N	0.059756	T	0.37839	0.1018	N	0.04508	-0.205	0.29637	N	0.845011	B	0.24368	0.102	B	0.20384	0.029	T	0.08638	-1.0712	10	0.13853	T	0.58	-16.0912	20.4238	0.99064	0.0:0.0:1.0:0.0	.	432	P20309	ACM3_HUMAN	Q	432	ENSP00000255380:E432Q	ENSP00000255380:E432Q	E	+	1	0	CHRM3	238138668	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.293000	0.59037	2.828000	0.97474	0.655000	0.94253	GAG		0.552	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		8	23	0	0	0	1	0	8	23				
MKLN1	4289	broad.mit.edu	37	7	131012732	131012732	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr7:131012732C>G	ENST00000352689.6	+	1	114	c.74C>G	c.(73-75)tCc>tGc	p.S25C	MKLN1-AS2_ENST00000454515.1_RNA|MKLN1-AS2_ENST00000416220.1_RNA|MKLN1_ENST00000429546.1_Intron|MKLN1_ENST00000421797.2_Intron|MKLN1-AS2_ENST00000429067.1_RNA	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	25					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					AAGTGGAGCTCCTTTTCCTCC	0.677																																						ENST00000352689.6																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(73-75)tCc>tGc		muskelin 1, intracellular mediator containing kelch motifs							49.0	46.0	47.0					7																	131012732		2203	4300	6503	SO:0001583	missense	4289				signal transduction	cytoplasm	protein binding	g.chr7:131012732C>G	AF047489	CCDS34754.1	7q32	2008-07-18			ENSG00000128585	ENSG00000128585			7109	protein-coding gene	gene with protein product		605623				10640805	Standard	NM_001145354		Approved	TWA2	uc011kpm.2	Q9UL63	OTTHUMG00000154880	ENST00000352689.6:c.74C>G	7.37:g.131012732C>G	ENSP00000323527:p.Ser25Cys					MKLN1_ENST00000429546.1_Intron|MKLN1_ENST00000421797.2_Intron	p.S25C	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN			1	114	+	Melanoma(18;0.162)		25					A4D1M8|A6NG43|Q9NSK4|Q9NUS8	Missense_Mutation	SNP	ENST00000352689.6	37	c.74C>G	CCDS34754.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.328798	0.81690	.	.	ENSG00000128585	ENST00000352689	D	0.98602	-5.02	4.22	4.22	0.49857	Muskelin, N-terminal (1);Galactose-binding domain-like (1);	0.170601	0.53938	D	0.000054	D	0.98823	0.9603	M	0.84433	2.695	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.99368	1.0919	10	0.87932	D	0	-0.306	12.4811	0.55842	0.0:1.0:0.0:0.0	.	25	Q9UL63	MKLN1_HUMAN	C	25	ENSP00000323527:S25C	ENSP00000323527:S25C	S	+	2	0	MKLN1	130663272	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.095000	0.41729	2.079000	0.62486	0.561000	0.74099	TCC		0.677	MKLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337473.4	NM_013255		4	31	0	0	0	1	0	4	31				
CASP8	841	broad.mit.edu	37	2	202131281	202131281	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:202131281C>G	ENST00000432109.2	+	3	261	c.72C>G	c.(70-72)ttC>ttG	p.F24L	CASP8_ENST00000392259.2_Missense_Mutation_p.F24L|CASP8_ENST00000392266.3_Missense_Mutation_p.F24L|CASP8_ENST00000392258.3_Missense_Mutation_p.F24L|CASP8_ENST00000264275.5_Missense_Mutation_p.F24L|CASP8_ENST00000358485.4_Missense_Mutation_p.F83L|CASP8_ENST00000323492.7_Missense_Mutation_p.F24L|CASP8_ENST00000264274.9_Missense_Mutation_p.F24L	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	24	DED 1. {ECO:0000255|PROSITE- ProRule:PRU00065}.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CCCTCAAGTTCCTGAGCCTGG	0.433										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	ENST00000358485.4																			0				breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						c.(247-249)ttC>ttG		caspase 8, apoptosis-related cysteine peptidase							77.0	79.0	78.0					2																	202131281		2203	4300	6503	SO:0001583	missense	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	g.chr2:202131281C>G	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.72C>G	2.37:g.202131281C>G	ENSP00000412523:p.Phe24Leu	HNSCC(4;0.00038)				CASP8_ENST00000323492.7_Missense_Mutation_p.F24L|CASP8_ENST00000264274.9_Missense_Mutation_p.F24L|CASP8_ENST00000264275.5_Missense_Mutation_p.F24L|CASP8_ENST00000432109.2_Missense_Mutation_p.F24L|CASP8_ENST00000392259.2_Missense_Mutation_p.F24L|CASP8_ENST00000392258.3_Missense_Mutation_p.F24L|CASP8_ENST00000392266.3_Missense_Mutation_p.F24L	p.F83L	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN			2	445	+			24					O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	ENST00000432109.2	37	c.249C>G	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.076818	0.55753	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000392259;ENST00000392266;ENST00000432109;ENST00000264275;ENST00000440732;ENST00000392258;ENST00000447616;ENST00000358485;ENST00000392261;ENST00000413726;ENST00000323492;ENST00000429881	D;D;D;D;D;D;D;D;D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33;-2.33;-2.33;-2.33;-2.33;-2.33;-2.33;-2.33;-2.33;-2.33	5.33	4.45	0.53987	DEATH-like (2);Death effector (3);	0.321942	0.37857	N	0.001901	D	0.91593	0.7344	M	0.68593	2.085	0.36183	D	0.849529	D;P;D;P;D;D;D;D;D	0.89917	0.998;0.95;1.0;0.95;1.0;1.0;1.0;1.0;1.0	D;P;D;D;D;D;D;D;D	0.97110	0.987;0.857;1.0;0.951;0.994;1.0;1.0;0.999;0.999	D	0.93154	0.6552	10	0.51188	T	0.08	.	11.1895	0.48677	0.0:0.8453:0.0:0.1547	.	24;24;24;24;83;24;24;24;24	Q14790-3;E7ETB7;Q14790-7;A8MU92;Q14790-9;Q14790;Q14790-2;Q14790-4;Q14790-5	.;.;.;.;.;CASP8_HUMAN;.;.;.	L	24;24;24;24;24;24;24;24;24;83;24;24;24;24	ENSP00000376091:F24L;ENSP00000264274:F24L;ENSP00000376088:F24L;ENSP00000376094:F24L;ENSP00000412523:F24L;ENSP00000264275:F24L;ENSP00000396869:F24L;ENSP00000376087:F24L;ENSP00000388306:F24L;ENSP00000351273:F83L;ENSP00000397528:F24L;ENSP00000325722:F24L;ENSP00000390641:F24L	ENSP00000264274:F24L	F	+	3	2	CASP8	201839526	1.000000	0.71417	0.991000	0.47740	0.189000	0.23516	0.582000	0.23834	1.213000	0.43380	0.561000	0.74099	TTC		0.433	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		15	38	0	0	0	1	0	15	38				
PLXNB3	5365	broad.mit.edu	37	X	153032532	153032532	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:153032532G>C	ENST00000361971.5	+	3	364	c.250G>C	c.(250-252)Gag>Cag	p.E84Q	PLXNB3_ENST00000538966.1_Missense_Mutation_p.E107Q|PLXNB3_ENST00000538282.1_Intron|PLXNB3_ENST00000538543.1_Intron|U52111.14_ENST00000416854.1_RNA|U52111.14_ENST00000434284.1_RNA|PLXNB3_ENST00000538776.1_Intron	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	84	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTGCAGCTCGAGGCCGTGGC	0.627																																						ENST00000538966.1																			0				central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(319-321)Gag>Cag		plexin B3							37.0	32.0	34.0					X																	153032532		2202	4299	6501	SO:0001583	missense	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153032532G>C	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.250G>C	X.37:g.153032532G>C	ENSP00000355378:p.Glu84Gln					PLXNB3_ENST00000538282.1_Intron|PLXNB3_ENST00000361971.5_Missense_Mutation_p.E84Q|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538776.1_Intron	p.E107Q	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN			4	590	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		84			Sema.		B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	c.319G>C	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	G	8.489	0.861634	0.17178	.	.	ENSG00000198753	ENST00000538966;ENST00000361971	T;T	0.04654	3.58;3.58	4.92	-0.622	0.11560	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.395824	0.21125	N	0.079760	T	0.04770	0.0129	L	0.45137	1.4	0.09310	N	1	P;B	0.35700	0.516;0.076	B;B	0.37451	0.25;0.162	T	0.40572	-0.9556	10	0.13853	T	0.58	.	12.1297	0.53936	0.078:0.6051:0.3169:0.0	.	107;84	F5H773;Q9ULL4	.;PLXB3_HUMAN	Q	107;84	ENSP00000442736:E107Q;ENSP00000355378:E84Q	ENSP00000355378:E84Q	E	+	1	0	PLXNB3	152685726	0.000000	0.05858	0.008000	0.14137	0.321000	0.28281	-0.150000	0.10189	-0.303000	0.08856	-0.337000	0.08149	GAG		0.627	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			14	28	0	0	0	1	0	14	28				
EPG5	57724	broad.mit.edu	37	18	43510760	43510760	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr18:43510760G>A	ENST00000282041.5	-	12	2328	c.2294C>T	c.(2293-2295)tCt>tTt	p.S765F		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	765					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						ATTCATAGAAGAAAGACACTT	0.358																																						ENST00000282041.5																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.(2293-2295)tCt>tTt		ectopic P-granules autophagy protein 5 homolog (C. elegans)							48.0	45.0	46.0					18																	43510760		1811	4064	5875	SO:0001583	missense	57724				autophagy			g.chr18:43510760G>A	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.2294C>T	18.37:g.43510760G>A	ENSP00000282041:p.Ser765Phe						p.S765F	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN			12	2328	-			765					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.2294C>T	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	G	19.91	3.914239	0.72983	.	.	ENSG00000152223	ENST00000282041	T	0.10573	2.86	5.87	5.87	0.94306	.	0.764548	0.12868	N	0.432575	T	0.27063	0.0663	L	0.54323	1.7	0.47308	D	0.999388	D;D	0.63880	0.993;0.993	P;P	0.59487	0.858;0.858	T	0.00044	-1.2219	10	0.72032	D	0.01	-17.9757	15.2181	0.73285	0.0:0.0:0.8275:0.1725	.	765;765	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	F	765	ENSP00000282041:S765F	ENSP00000282041:S765F	S	-	2	0	EPG5	41764758	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	4.070000	0.57548	2.941000	0.99782	0.655000	0.94253	TCT		0.358	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		13	30	0	0	0	1	0	13	30				
FRMD3	257019	broad.mit.edu	37	9	85987841	85987841	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr9:85987841G>A	ENST00000304195.3	-	3	488	c.282C>T	c.(280-282)ttC>ttT	p.F94F	FRMD3_ENST00000376438.1_Silent_p.F94F	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	94	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						TCATTTGCTTGAAGATGGACT	0.403																																						ENST00000304195.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(280-282)ttC>ttT		FERM domain containing 3							146.0	137.0	140.0					9																	85987841		1853	4091	5944	SO:0001819	synonymous_variant	257019					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	g.chr9:85987841G>A	AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.282C>T	9.37:g.85987841G>A						FRMD3_ENST00000376438.1_Silent_p.F94F	p.F94F	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN			3	488	-			94			FERM.		A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Silent	SNP	ENST00000304195.3	37	c.282C>T	CCDS43840.1																																																																																				0.403	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157355.1	NM_174938		24	99	0	0	0	1	0	24	99				
GABBR2	9568	broad.mit.edu	37	9	101068556	101068556	+	Silent	SNP	G	G	A	rs141903124		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr9:101068556G>A	ENST00000259455.2	-	15	2535	c.2076C>T	c.(2074-2076)atC>atT	p.I692I		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	692					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	CACTCATCCCGATGTACTTGC	0.552																																						ENST00000259455.2																		NOTCH1_ENST00000277541/GABBR2(2)	0				breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49						c.(2074-2076)atC>atT		gamma-aminobutyric acid (GABA) B receptor, 2	Baclofen(DB00181)	G		0,4406		0,0,2203	148.0	98.0	115.0		2076	-4.5	0.7	9	dbSNP_134	115	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GABBR2	NM_005458.7		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		692/942	101068556	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9568				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr9:101068556G>A	AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4507	protein-coding gene	gene with protein product		607340	"""G protein-coupled receptor 51"""	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.2076C>T	9.37:g.101068556G>A							p.I692I	NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN			15	2535	-		Acute lymphoblastic leukemia(62;0.0527)	692					O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Silent	SNP	ENST00000259455.2	37	c.2076C>T	CCDS6736.1																																																																																				0.552	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1			13	35	0	0	0	1	0	13	35				
ROCK1	6093	broad.mit.edu	37	18	18549116	18549116	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr18:18549116C>G	ENST00000399799.2	-	24	3814	c.2874G>C	c.(2872-2874)gaG>gaC	p.E958D		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	958	Glu-rich.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					GCTCTTCATTCTCTCTTCTTA	0.323																																						ENST00000399799.1																			0				NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16						c.(2872-2874)gaG>gaC		Rho-associated, coiled-coil containing protein kinase 1							192.0	179.0	184.0					18																	18549116		2203	4299	6502	SO:0001583	missense	6093				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr18:18549116C>G		CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.2874G>C	18.37:g.18549116C>G	ENSP00000382697:p.Glu958Asp						p.E958D	NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN			24	3814	-	Melanoma(1;0.165)		958			Glu-rich.		B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	c.2874G>C	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	C	17.86	3.491729	0.64074	.	.	ENSG00000067900	ENST00000399799	T	0.14144	2.53	5.25	2.92	0.33932	Rho Binding (2);	0.103704	0.64402	D	0.000004	T	0.25082	0.0609	M	0.69248	2.105	0.58432	D	0.999995	B	0.32604	0.377	P	0.48304	0.573	T	0.01715	-1.1289	10	0.40728	T	0.16	.	8.9618	0.35851	0.0:0.1532:0.0:0.8468	.	958	Q13464	ROCK1_HUMAN	D	958	ENSP00000382697:E958D	ENSP00000382697:E958D	E	-	3	2	ROCK1	16803114	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	2.340000	0.43974	0.472000	0.27344	-0.302000	0.09304	GAG		0.323	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		7	33	0	0	0	1	0	7	33				
NEB	4703	broad.mit.edu	37	2	152394687	152394687	+	Silent	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:152394687G>C	ENST00000172853.10	-	111	16008	c.15861C>G	c.(15859-15861)gtC>gtG	p.V5287V	NEB_ENST00000604864.1_Silent_p.V6988V|NEB_ENST00000397345.3_Silent_p.V6988V|NEB_ENST00000603639.1_Silent_p.V6988V|NEB_ENST00000409198.1_Silent_p.V5287V|NEB_ENST00000427231.2_Silent_p.V6988V			P20929	NEBU_HUMAN	nebulin	5287					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGCGATGATAGACAATGTCTA	0.353																																						ENST00000427231.2																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(20962-20964)gtC>gtG		nebulin							247.0	227.0	233.0					2																	152394687		1863	4095	5958	SO:0001819	synonymous_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152394687G>C	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.15861C>G	2.37:g.152394687G>C						NEB_ENST00000603639.1_Silent_p.V6988V|NEB_ENST00000397345.3_Silent_p.V6988V|NEB_ENST00000172853.10_Silent_p.V5287V|NEB_ENST00000409198.1_Silent_p.V5287V|NEB_ENST00000604864.1_Silent_p.V6988V	p.V6988V	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	139	21166	-			5287					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37	c.20964C>G																																																																																					0.353	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		30	100	0	0	0	1	0	30	100				
FZD5	7855	broad.mit.edu	37	2	208633089	208633089	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:208633089G>A	ENST00000295417.3	-	2	928	c.375C>T	c.(373-375)ttC>ttT	p.F125F		NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN	frizzled class receptor 5	125	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				angiogenesis (GO:0001525)|anterior/posterior axis specification, embryo (GO:0008595)|apoptotic process (GO:0006915)|apoptotic process involved in morphogenesis (GO:0060561)|axonogenesis (GO:0007409)|brain development (GO:0007420)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|canonical Wnt signaling pathway (GO:0060070)|cell maturation (GO:0048469)|cellular response to molecule of bacterial origin (GO:0071219)|chorionic trophoblast cell differentiation (GO:0060718)|embryonic axis specification (GO:0000578)|embryonic camera-type eye development (GO:0031076)|gonad development (GO:0008406)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|neuron differentiation (GO:0030182)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic camera-type eye development (GO:0031077)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of chorionic trophoblast cell proliferation (GO:1901382)|regulation of tight junction assembly (GO:2000810)|Spemann organizer formation (GO:0060061)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell differentiation in thymus (GO:0033077)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	cell projection (GO:0042995)|cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		CGGGCCAGGCGAAGCCGTACT	0.721																																						ENST00000295417.3																			0				NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7						c.(373-375)ttC>ttT		frizzled family receptor 5							9.0	10.0	10.0					2																	208633089		2180	4245	6425	SO:0001819	synonymous_variant	7855				angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell projection|cell surface|Golgi membrane|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|protein kinase binding|Wnt-protein binding	g.chr2:208633089G>A	U43318	CCDS33366.1	2q33.3	2014-01-29	2014-01-29		ENSG00000163251	ENSG00000163251		"""GPCR / Class F : Frizzled receptors"""	4043	protein-coding gene	gene with protein product		601723	"""frizzled (Drosophila) homolog 5"", ""chromosome 2 open reading frame 31"", ""frizzled homolog 5 (Drosophila)"", ""frizzled 5, seven transmembrane spanning receptor"", ""frizzled family receptor 5"""	C2orf31		8626800, 11408929	Standard	NM_003468		Approved	HFZ5, DKFZP434E2135	uc002vcj.3	Q13467	OTTHUMG00000154790	ENST00000295417.3:c.375C>T	2.37:g.208633089G>A							p.F125F	NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)	2	928	-			125			FZ.		A8K2X1|B2RCZ1|Q53R22	Silent	SNP	ENST00000295417.3	37	c.375C>T	CCDS33366.1																																																																																				0.721	FZD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337060.1	NM_003468		3	15	0	0	0	1	0	3	15				
HECTD2	143279	broad.mit.edu	37	10	93221090	93221090	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr10:93221090C>T	ENST00000298068.5	+	4	581	c.487C>T	c.(487-489)Cca>Tca	p.P163S	HECTD2_ENST00000446394.1_Missense_Mutation_p.P163S|HECTD2_ENST00000371681.4_Missense_Mutation_p.P163S|HECTD2_ENST00000536715.1_5'Flank	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	163					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						TGATTCTTTCCCAGAATTAAA	0.269																																					NSCLC(12;376 469 1699 39910 41417)	ENST00000446394.1																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						c.(487-489)Cca>Tca		HECT domain containing E3 ubiquitin protein ligase 2							86.0	101.0	96.0					10																	93221090		2201	4289	6490	SO:0001583	missense	143279				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr10:93221090C>T	AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338			26736	protein-coding gene	gene with protein product			"""HECT domain containing 2"""			8619474, 9110174	Standard	NM_001284274		Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	ENST00000298068.5:c.487C>T	10.37:g.93221090C>T	ENSP00000298068:p.Pro163Ser					HECTD2_ENST00000371681.4_Missense_Mutation_p.P163S|HECTD2_ENST00000298068.5_Missense_Mutation_p.P163S	p.P163S			Q5U5R9	HECD2_HUMAN			4	587	+			163					Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Missense_Mutation	SNP	ENST00000298068.5	37	c.487C>T	CCDS7414.1	.	.	.	.	.	.	.	.	.	.	C	11.16	1.556949	0.27827	.	.	ENSG00000165338	ENST00000446394;ENST00000371681;ENST00000298068	T;T;T	0.40756	1.38;1.02;1.38	5.1	3.18	0.36537	.	0.276052	0.31301	N	0.007891	T	0.25121	0.0610	L	0.36672	1.1	0.80722	D	1	B;B;P	0.39404	0.0;0.0;0.672	B;B;B	0.35039	0.001;0.001;0.194	T	0.03413	-1.1039	10	0.19590	T	0.45	.	5.5493	0.17081	0.1695:0.6676:0.0:0.1629	.	163;163;163	E7ERR3;Q5U5R9;Q5VZ98	.;HECD2_HUMAN;.	S	163	ENSP00000401023:P163S;ENSP00000360746:P163S;ENSP00000298068:P163S	ENSP00000298068:P163S	P	+	1	0	HECTD2	93211070	0.995000	0.38212	1.000000	0.80357	0.993000	0.82548	0.260000	0.18424	1.081000	0.41110	0.467000	0.42956	CCA		0.269	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098620.1			20	80	0	0	0	1	0	20	80				
MEX3B	84206	broad.mit.edu	37	15	82337813	82337813	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr15:82337813G>A	ENST00000329713.4	-	1	669	c.234C>T	c.(232-234)gtC>gtT	p.V78V	AC026956.1_ENST00000410589.1_RNA|MEX3B_ENST00000558133.1_Silent_p.V78V	NM_032246.4	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	78	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						CGATCTCGGCGACATGCTCAG	0.647																																						ENST00000558133.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						c.(232-234)gtC>gtT		mex-3 RNA binding family member B							52.0	29.0	37.0					15																	82337813		2202	4300	6502	SO:0001819	synonymous_variant	84206				protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding	g.chr15:82337813G>A	AK131424	CCDS10319.1	15q25.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000183496	ENSG00000183496		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	25297	protein-coding gene	gene with protein product		611008	"""ring finger and KH domain containing 3"", ""mex-3 homolog B (C. elegans)"""	RKHD3		11230166, 17267406	Standard	NM_032246		Approved	DKFZp434J0617, RNF195	uc002bgq.2	Q6ZN04	OTTHUMG00000147356	ENST00000329713.4:c.234C>T	15.37:g.82337813G>A						MEX3B_ENST00000329713.4_Silent_p.V78V	p.V78V			Q6ZN04	MEX3B_HUMAN			1	647	-			78			KH 1.		Q4G0W1|Q8IVG2|Q9H0J0	Silent	SNP	ENST00000329713.4	37	c.234C>T	CCDS10319.1																																																																																				0.647	MEX3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304000.1	XM_290645		6	24	0	0	0	1	0	6	24				
COL6A2	1292	broad.mit.edu	37	21	47532724	47532724	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr21:47532724G>C	ENST00000300527.4	+	4	825	c.721G>C	c.(721-723)Gaa>Caa	p.E241Q	COL6A2_ENST00000397763.1_Missense_Mutation_p.E241Q|COL6A2_ENST00000357838.4_Missense_Mutation_p.E241Q|COL6A2_ENST00000409416.1_Missense_Mutation_p.E241Q|COL6A2_ENST00000460886.1_3'UTR|COL6A2_ENST00000310645.5_Missense_Mutation_p.E241Q	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	241	Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	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)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GCAGAAACACGAAGCCTACGG	0.642																																						ENST00000300527.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(721-723)Gaa>Caa		collagen, type VI, alpha 2							125.0	97.0	107.0					21																	47532724		2203	4300	6503	SO:0001583	missense	1292				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47532724G>C	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.721G>C	21.37:g.47532724G>C	ENSP00000300527:p.Glu241Gln					COL6A2_ENST00000397763.1_Missense_Mutation_p.E241Q|COL6A2_ENST00000357838.4_Missense_Mutation_p.E241Q|COL6A2_ENST00000409416.1_Missense_Mutation_p.E241Q|COL6A2_ENST00000310645.5_Missense_Mutation_p.E241Q|COL6A2_ENST00000460886.1_3'UTR	p.E241Q	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	4	825	+	Breast(49;0.245)		241			Nonhelical region.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	c.721G>C	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.479753	0.44044	.	.	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000409416;ENST00000397763	D;D;D;D;D	0.90069	-2.52;-2.54;-2.61;-2.61;-2.54	4.0	4.0	0.46444	.	0.567716	0.18288	N	0.145801	D	0.91758	0.7393	L	0.60455	1.87	0.46701	D	0.999165	D;P;P	0.69078	0.997;0.719;0.567	P;B;B	0.62740	0.906;0.301;0.362	D	0.89321	0.3640	10	0.18710	T	0.47	-22.1117	16.4776	0.84136	0.0:0.0:1.0:0.0	.	241;241;241	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	Q	241	ENSP00000300527:E241Q;ENSP00000350497:E241Q;ENSP00000312529:E241Q;ENSP00000387115:E241Q;ENSP00000380870:E241Q	ENSP00000300527:E241Q	E	+	1	0	COL6A2	46357152	1.000000	0.71417	0.989000	0.46669	0.967000	0.64934	5.826000	0.69293	1.956000	0.56807	0.462000	0.41574	GAA		0.642	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			17	56	0	0	0	1	0	17	56				
ABCA1	19	broad.mit.edu	37	9	107568576	107568576	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr9:107568576G>A	ENST00000374736.3	-	31	4804	c.4410C>T	c.(4408-4410)atC>atT	p.I1470I		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1470					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	GCATCTTCTTGATTTTGTCGC	0.582																																						ENST00000374736.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(4408-4410)atC>atT		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						119.0	106.0	111.0					9																	107568576		2203	4300	6503	SO:0001819	synonymous_variant	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107568576G>A	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.4410C>T	9.37:g.107568576G>A							p.I1470I	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	31	4804	-			1470					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Silent	SNP	ENST00000374736.3	37	c.4410C>T	CCDS6762.1																																																																																				0.582	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		17	51	0	0	0	1	0	17	51				
ROCK1	6093	broad.mit.edu	37	18	18608840	18608840	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr18:18608840C>T	ENST00000399799.2	-	10	2048	c.1108G>A	c.(1108-1110)Gac>Aac	p.D370N		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	370	AGC-kinase C-terminal.|Interaction with FHOD1.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TCTTCCAAGTCATCAAAATTA	0.333																																						ENST00000399799.1																			0				NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16						c.(1108-1110)Gac>Aac		Rho-associated, coiled-coil containing protein kinase 1							143.0	146.0	145.0					18																	18608840		2203	4299	6502	SO:0001583	missense	6093				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr18:18608840C>T		CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.1108G>A	18.37:g.18608840C>T	ENSP00000382697:p.Asp370Asn						p.D370N	NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN			10	2048	-	Melanoma(1;0.165)		370			AGC-kinase C-terminal.|Interaction with FHOD1.		B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	c.1108G>A	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	C	36	5.777713	0.96929	.	.	ENSG00000067900	ENST00000399799	T	0.60171	0.21	5.67	5.67	0.87782	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.68522	0.3010	M	0.70595	2.14	0.80722	D	1	P	0.47841	0.901	P	0.48952	0.596	T	0.71407	-0.4602	10	0.62326	D	0.03	.	19.7863	0.96440	0.0:1.0:0.0:0.0	.	370	Q13464	ROCK1_HUMAN	N	370	ENSP00000382697:D370N	ENSP00000382697:D370N	D	-	1	0	ROCK1	16862838	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.712000	0.84684	2.665000	0.90641	0.655000	0.94253	GAC		0.333	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		33	64	0	0	0	1	0	33	64				
PNLIPRP2	5408	broad.mit.edu	37	10	118385516	118385516	+	RNA	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr10:118385516G>C	ENST00000298771.7	+	0	289				PNLIPRP2_ENST00000537242.1_RNA|PNLIPRP2_ENST00000433618.4_RNA	NR_103727.1		P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process (GO:0019376)|lipid digestion (GO:0044241)|phospholipid catabolic process (GO:0009395)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	acylglycerol lipase activity (GO:0047372)|calcium ion binding (GO:0005509)|galactolipase activity (GO:0047714)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)	p.K88K(2)		endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		TGGACCGCAAGACACGCTTCA	0.498																																						ENST00000537242.1																			2	Substitution - coding silent(2)	p.K88K(2)	lung(2)	endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16								pancreatic lipase-related protein 2							72.0	79.0	77.0					10																	118385516		2150	4276	6426			5408				galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity	g.chr10:118385516G>C	M93284		10q26.12	2014-03-14				ENSG00000266200	3.1.1.3		9157	protein-coding gene	gene with protein product		604423				1379598	Standard	NM_005396		Approved	PLRP2	uc001lcq.3	P54317			10.37:g.118385516G>C						PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA		NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN		all cancers(201;0.015)	0	290	+								A8K627|Q6IB55	RNA	SNP	ENST00000298771.7	37			.	.	.	.	.	.	.	.	.	.	G	12.81	2.049459	0.36181	.	.	ENSG00000165862	ENST00000537242	D	0.91237	-2.81	5.86	2.56	0.30785	Lipase, N-terminal (1);	0.000000	0.64402	D	0.000011	D	0.87557	0.6207	.	.	.	0.24609	N	0.993736	P	0.39216	0.664	P	0.44447	0.45	T	0.80032	-0.1552	9	0.54805	T	0.06	.	5.8857	0.18880	0.4418:0.0:0.5582:0.0	.	88	P54317	LIPR2_HUMAN	N	88	ENSP00000446346:K88N	ENSP00000446346:K88N	K	+	3	2	PNLIPRP2	118375506	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	1.312000	0.33574	0.941000	0.37499	0.650000	0.86243	AAG		0.498	PNLIPRP2-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000050546.6	NM_005396		16	26	0	0	0	1	0	16	26				
RDH10	157506	broad.mit.edu	37	8	74231427	74231427	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr8:74231427G>A	ENST00000240285.5	+	3	1300	c.622G>A	c.(622-624)Gag>Aag	p.E208K	RP11-434I12.2_ENST00000517475.1_RNA|RP11-434I12.2_ENST00000514599.1_RNA|RDH10_ENST00000519380.1_Missense_Mutation_p.E43K	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10 (all-trans)	208					bud elongation involved in lung branching (GO:0060449)|ear development (GO:0043583)|embryonic camera-type eye development (GO:0031076)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|gonad development (GO:0008406)|in utero embryonic development (GO:0001701)|metanephros development (GO:0001656)|neural crest cell development (GO:0014032)|nose development (GO:0043584)|phototransduction, visible light (GO:0007603)|primary lung bud formation (GO:0060431)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	cell body (GO:0044297)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			TGCCGGAGTTGAGGTTTGTCA	0.443																																						ENST00000240285.5																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11						c.(622-624)Gag>Aag		retinol dehydrogenase 10 (all-trans)							205.0	185.0	192.0					8																	74231427		2203	4300	6503	SO:0001583	missense	157506				retinal metabolic process|retinol metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|microsome	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity	g.chr8:74231427G>A	AF456765	CCDS6213.1	8q21.11	2011-09-20			ENSG00000121039	ENSG00000121039	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	19975	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 16C, member 4"""	607599				12407145, 19027726	Standard	NM_172037		Approved	SDR16C4	uc003xzi.3	Q8IZV5	OTTHUMG00000164492	ENST00000240285.5:c.622G>A	8.37:g.74231427G>A	ENSP00000240285:p.Glu208Lys					RDH10_ENST00000519380.1_Missense_Mutation_p.E43K|RP11-434I12.2_ENST00000517475.1_RNA|RP11-434I12.2_ENST00000514599.1_RNA	p.E208K	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)		3	1300	+	Breast(64;0.0954)		208						Missense_Mutation	SNP	ENST00000240285.5	37	c.622G>A	CCDS6213.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.986910	0.93106	.	.	ENSG00000121039	ENST00000240285;ENST00000521928;ENST00000519380	D;D;D	0.87334	-2.24;-2.24;-2.24	5.42	4.54	0.55810	Short-chain dehydrogenase/reductase, conserved site (1);NAD(P)-binding domain (1);	0.047650	0.85682	N	0.000000	D	0.87394	0.6166	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.84977	0.0886	10	0.22706	T	0.39	.	13.8391	0.63428	0.0723:0.0:0.9277:0.0	.	208	Q8IZV5	RDH10_HUMAN	K	208;43;43	ENSP00000240285:E208K;ENSP00000429727:E43K;ENSP00000428132:E43K	ENSP00000240285:E208K	E	+	1	0	RDH10	74393981	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.463000	0.97652	1.523000	0.49018	0.650000	0.86243	GAG		0.443	RDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378982.1			46	89	0	0	0	1	0	46	89				
PMPCA	23203	broad.mit.edu	37	9	139317659	139317659	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr9:139317659G>C	ENST00000371717.3	+	13	1530	c.1521G>C	c.(1519-1521)caG>caC	p.Q507H	PMPCA_ENST00000399219.3_Missense_Mutation_p.Q376H	NM_001282946.1|NM_015160.1	NP_001269875.1|NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	507					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		AGCACATCCAGACCGCCCTGT	0.647																																						ENST00000371717.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14						c.(1519-1521)caG>caC		peptidase (mitochondrial processing) alpha							53.0	51.0	52.0					9																	139317659		2203	4300	6503	SO:0001583	missense	23203				proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding	g.chr9:139317659G>C	D21064	CCDS35180.1, CCDS65192.1	9q34.3	2008-02-05	2003-06-13	2003-06-20	ENSG00000165688	ENSG00000165688			18667	protein-coding gene	gene with protein product		613036	"""inositol polyphosphate-5-phosphatase, 72 kD"""	INPP5E		8590280, 7788527	Standard	NM_015160		Approved	KIAA0123, Alpha-MPP	uc004chl.3	Q10713	OTTHUMG00000020926	ENST00000371717.3:c.1521G>C	9.37:g.139317659G>C	ENSP00000360782:p.Gln507His					PMPCA_ENST00000399219.3_Missense_Mutation_p.Q376H	p.Q507H	NM_015160.1	NP_055975.1	Q10713	MPPA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)	13	1530	+		Myeloproliferative disorder(178;0.0821)	507					B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Missense_Mutation	SNP	ENST00000371717.3	37	c.1521G>C	CCDS35180.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.393796	0.25205	.	.	ENSG00000165688	ENST00000371717;ENST00000399219	T;T	0.12672	2.67;2.66	4.77	3.74	0.42951	Peptidase M16, core (1);	0.000000	0.85682	D	0.000000	T	0.13329	0.0323	M	0.69823	2.125	0.52501	D	0.999959	B;B;B	0.34181	0.192;0.44;0.44	B;B;B	0.28232	0.067;0.087;0.087	T	0.03443	-1.1036	10	0.46703	T	0.11	.	6.0809	0.19940	0.3103:0.0:0.6897:0.0	.	376;507;507	B4DKL3;Q5SXM9;Q10713	.;.;MPPA_HUMAN	H	507;376	ENSP00000360782:Q507H;ENSP00000416702:Q376H	ENSP00000360782:Q507H	Q	+	3	2	PMPCA	138437480	1.000000	0.71417	0.885000	0.34714	0.096000	0.18686	3.491000	0.53252	2.204000	0.70986	0.561000	0.74099	CAG		0.647	PMPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055054.1	NM_015160		10	39	0	0	0	1	0	10	39				
LRRFIP1	9208	broad.mit.edu	37	2	238672057	238672057	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:238672057G>C	ENST00000392000.4	+	11	1818	c.1701G>C	c.(1699-1701)aaG>aaC	p.K567N	LRRFIP1_ENST00000308482.9_Intron|LRRFIP1_ENST00000244815.5_Missense_Mutation_p.K543N|LRRFIP1_ENST00000289175.6_Missense_Mutation_p.K511N	NM_001137552.1	NP_001131024.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	567	DNA-binding.|Lys-rich.				innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		CATCGCagaagaagacaaaga	0.393																																						ENST00000244815.5																			0				NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29						c.(1627-1629)aaG>aaC		leucine rich repeat (in FLII) interacting protein 1							43.0	49.0	47.0					2																	238672057		2202	4299	6501	SO:0001583	missense	9208				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding	g.chr2:238672057G>C	AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"""GC-binding factor 2"""	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000392000.4:c.1701G>C	2.37:g.238672057G>C	ENSP00000375857:p.Lys567Asn					LRRFIP1_ENST00000289175.6_Missense_Mutation_p.K511N|LRRFIP1_ENST00000392000.4_Missense_Mutation_p.K567N|LRRFIP1_ENST00000308482.9_Intron	p.K543N	NM_004735.3	NP_004726.2	Q32MZ4	LRRF1_HUMAN		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)	10	1869	+		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	567			DNA-binding.		E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Missense_Mutation	SNP	ENST00000392000.4	37	c.1629G>C	CCDS46552.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.596307	0.46318	.	.	ENSG00000124831	ENST00000289175;ENST00000244815;ENST00000392000	T;T;T	0.27720	1.65;1.67;1.73	5.49	4.38	0.52667	.	0.700466	0.14583	N	0.310740	T	0.47358	0.1441	L	0.58101	1.795	0.29133	N	0.879525	D;D;D	0.67145	0.996;0.994;0.996	P;P;P	0.62382	0.901;0.799;0.901	T	0.35773	-0.9775	10	0.66056	D	0.02	-26.9283	11.6095	0.51052	0.1219:0.0:0.8781:0.0	.	511;567;543	Q32MZ4-3;Q32MZ4;Q32MZ4-2	.;LRRF1_HUMAN;.	N	511;543;567	ENSP00000289175:K511N;ENSP00000244815:K543N;ENSP00000375857:K567N	ENSP00000244815:K543N	K	+	3	2	LRRFIP1	238336796	0.994000	0.37717	0.995000	0.50966	0.308000	0.27856	1.052000	0.30429	2.743000	0.94032	0.655000	0.94253	AAG		0.393	LRRFIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317198.1	NM_004735		26	53	0	0	0	1	0	26	53				
MUC6	4588	broad.mit.edu	37	11	1016850	1016850	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:1016850A>G	ENST00000421673.2	-	31	6001	c.5951T>C	c.(5950-5952)aTg>aCg	p.M1984T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1984	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGTTGCAGTCATAGGACCTGT	0.587																																						ENST00000421673.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(5950-5952)aTg>aCg		mucin 6, oligomeric mucus/gel-forming							1534.0	1525.0	1528.0					11																	1016850		2203	4298	6501	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1016850A>G	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5951T>C	11.37:g.1016850A>G	ENSP00000406861:p.Met1984Thr						p.M1984T	NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	31	6001	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1984			Thr-rich.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.5951T>C	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	A	0.011	-1.707695	0.00712	.	.	ENSG00000184956	ENST00000421673	T	0.16743	2.32	2.76	-0.553	0.11815	.	.	.	.	.	T	0.08935	0.0221	N	0.21448	0.665	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43310	-0.9399	9	0.08837	T	0.75	.	7.782	0.29070	0.3108:0.0:0.6892:0.0	.	1984	Q6W4X9	MUC6_HUMAN	T	1984	ENSP00000406861:M1984T	ENSP00000406861:M1984T	M	-	2	0	MUC6	1006850	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.196000	0.09532	-0.238000	0.09724	-1.409000	0.01127	ATG		0.587	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		22	1900	0	0	0	1	0	22	1900				
LPA	4018	broad.mit.edu	37	6	160952780	160952780	+	Missense_Mutation	SNP	C	C	T	rs186413938	byFrequency	TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:160952780C>T	ENST00000316300.5	-	39	6148	c.6104G>A	c.(6103-6105)gGa>gAa	p.G2035E	LPA_ENST00000447678.1_Missense_Mutation_p.G2035E			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4543	Kringle 18. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TCTCATCATTCCCTCAATCCA	0.428													C|||	3	0.000599042	0.0	0.0	5008	,	,		18974	0.0		0.003	False		,,,				2504	0.0					ENST00000447678.1																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(6103-6105)gGa>gAa		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)	C	GLU/GLY	4,4402	8.1+/-20.4	0,4,2199	156.0	143.0	147.0		6104	-1.0	0.0	6		147	24,8576	16.6+/-54.9	0,24,4276	yes	missense	LPA	NM_005577.2	98	0,28,6475	TT,TC,CC		0.2791,0.0908,0.2153	probably-damaging	2035/2041	160952780	28,12978	2203	4300	6503	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:160952780C>T	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.6104G>A	6.37:g.160952780C>T	ENSP00000321334:p.Gly2035Glu					LPA_ENST00000484276.1_Intron|LPA_ENST00000316300.5_Missense_Mutation_p.G2035E	p.G2035E	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	40	6224	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	4543			Kringle 18.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.6104G>A	CCDS43523.1	4	0.0018315018315018315	0	0.0	0	0.0	0	0.0	4	0.005277044854881266	c	9.999	1.232859	0.22626	9.08E-4	0.002791	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.80653	-1.4;-1.4	2.87	-1.02	0.10135	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	.	.	.	.	T	0.31136	0.0787	N	0.01410	-0.885	0.09310	N	1	B	0.29627	0.252	B	0.28916	0.096	T	0.32241	-0.9914	9	0.48119	T	0.1	.	7.7301	0.28781	0.0:0.4726:0.0:0.5274	.	4543	P08519	APOA_HUMAN	E	2035	ENSP00000321334:G2035E;ENSP00000395608:G2035E	ENSP00000321334:G2035E	G	-	2	0	LPA	160872770	0.000000	0.05858	0.009000	0.14445	0.099000	0.18886	-2.451000	0.01006	-0.056000	0.13221	0.184000	0.17185	GGA		0.428	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		18	69	0	0	0	1	0	18	69				
RB1	5925	broad.mit.edu	37	13	49033948	49033948	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr13:49033948G>C	ENST00000267163.4	+	20	2223	c.2085G>C	c.(2083-2085)atG>atC	p.M695I		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	695	Domain B.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	ATGAACTCATGAGAGACAGGC	0.403		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												ENST00000267163.4		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"""D, Mis, N, F, S"""	retinoblastoma gene			"""L, E, M, O"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""		26	Whole gene deletion(15)|Unknown(11)	p.0?(15)|p.?(11)	bone(10)|breast(5)|haematopoietic_and_lymphoid_tissue(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|liver(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496						c.(2083-2085)atG>atC		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						79.0	73.0	75.0					13																	49033948		2203	4300	6503	SO:0001583	missense	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:49033948G>C	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2085G>C	13.37:g.49033948G>C	ENSP00000267163:p.Met695Ile	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.M695I	NM_000321.2	NP_000312.2	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	20	2223	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	695			Domain B.|Pocket; binds T and E1A.		A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	ENST00000267163.4	37	c.2085G>C	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	G	33	5.206869	0.95033	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	D	0.91631	-2.88	5.48	5.48	0.80851	Retinoblastoma-associated protein, B-box (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	D	0.95620	0.8576	M	0.73319	2.225	0.80722	D	1	D	0.62365	0.991	D	0.66196	0.942	D	0.95723	0.8768	10	0.72032	D	0.01	-17.3092	19.3477	0.94372	0.0:0.0:1.0:0.0	.	695	P06400	RB_HUMAN	I	674;695	ENSP00000267163:M695I	ENSP00000267163:M695I	M	+	3	0	RB1	47931949	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.581000	0.87130	0.585000	0.79938	ATG		0.403	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			15	42	0	0	0	1	0	15	42				
PTK2B	2185	broad.mit.edu	37	8	27277505	27277505	+	Missense_Mutation	SNP	G	G	A	rs140538134	byFrequency	TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr8:27277505G>A	ENST00000397501.1	+	8	1106	c.298G>A	c.(298-300)Gat>Aat	p.D100N	PTK2B_ENST00000338238.4_Missense_Mutation_p.D100N|PTK2B_ENST00000420218.2_Missense_Mutation_p.D100N|PTK2B_ENST00000517339.1_Missense_Mutation_p.D100N|PTK2B_ENST00000346049.5_Missense_Mutation_p.D100N|PTK2B_ENST00000544172.1_Missense_Mutation_p.D100N	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	100	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)	p.D100Y(2)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	CATGAAGTCCGATGAGATCCA	0.587													G|||	2	0.000399361	0.0	0.0	5008	,	,		20199	0.0		0.002	False		,,,				2504	0.0					ENST00000397501.1																			2	Substitution - Missense(2)	p.D100Y(2)	lung(2)	breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(298-300)Gat>Aat		protein tyrosine kinase 2 beta		G	ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP	2,4404	4.2+/-10.8	0,2,2201	103.0	86.0	92.0		298,298,298,298	5.2	0.9	8	dbSNP_134	92	13,8587	9.8+/-36.6	0,13,4287	yes	missense,missense,missense,missense	PTK2B	NM_004103.4,NM_173174.2,NM_173175.2,NM_173176.2	23,23,23,23	0,15,6488	AA,AG,GG		0.1512,0.0454,0.1153	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	100/1010,100/1010,100/968,100/1010	27277505	15,12991	2203	4300	6503	SO:0001583	missense	2185				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity	g.chr8:27277505G>A	U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"""protein tyrosine kinase 2 beta"", ""PTK2B protein tyrosine kinase 2 beta"""	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.298G>A	8.37:g.27277505G>A	ENSP00000380638:p.Asp100Asn					PTK2B_ENST00000420218.2_Missense_Mutation_p.D100N|PTK2B_ENST00000346049.5_Missense_Mutation_p.D100N|PTK2B_ENST00000517339.1_Missense_Mutation_p.D100N|PTK2B_ENST00000544172.1_Missense_Mutation_p.D100N|PTK2B_ENST00000338238.4_Missense_Mutation_p.D100N	p.D100N	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	8	1106	+		Ovarian(32;2.72e-05)	100			FERM.		D3DST0|Q13475|Q14290|Q16709|Q6PID4	Missense_Mutation	SNP	ENST00000397501.1	37	c.298G>A	CCDS6057.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	24.1	4.496762	0.85069	4.54E-4	0.001512	ENSG00000120899	ENST00000397501;ENST00000539100;ENST00000338238;ENST00000544172;ENST00000521164;ENST00000346049;ENST00000420218;ENST00000522517;ENST00000412793;ENST00000517339	T;T;T;T;T;T	0.73575	-0.76;-0.74;-0.76;-0.76;-0.74;-0.74	5.15	5.15	0.70609	Band 4.1 domain (1);FERM domain (1);	0.182425	0.51477	D	0.000082	T	0.60534	0.2276	L	0.29908	0.895	0.58432	D	0.999996	B;B	0.29432	0.212;0.244	B;B	0.23574	0.04;0.047	T	0.56715	-0.7933	10	0.17832	T	0.49	.	13.996	0.64402	0.0:0.0:1.0:0.0	.	100;100	Q14289-2;Q14289	.;FAK2_HUMAN	N	100;105;100;100;100;100;100;100;100;100	ENSP00000380638:D100N;ENSP00000342242:D100N;ENSP00000440926:D100N;ENSP00000332816:D100N;ENSP00000391995:D100N;ENSP00000427931:D100N	ENSP00000342242:D100N	D	+	1	0	PTK2B	27333422	1.000000	0.71417	0.867000	0.34043	0.941000	0.58515	9.031000	0.93731	2.677000	0.91161	0.561000	0.74099	GAT		0.587	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219916.1	NM_004103		15	38	0	0	0	1	0	15	38				
TLL2	7093	broad.mit.edu	37	10	98157020	98157020	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr10:98157020G>C	ENST00000357947.3	-	11	1532	c.1307C>G	c.(1306-1308)tCc>tGc	p.S436C	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	436	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GCTGTCCGTGGAGACGAGGGG	0.572																																						ENST00000357947.3																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58						c.(1306-1308)tCc>tGc		tolloid-like 2							59.0	53.0	55.0					10																	98157020		2203	4300	6503	SO:0001583	missense	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98157020G>C	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.1307C>G	10.37:g.98157020G>C	ENSP00000350630:p.Ser436Cys					TLL2_ENST00000469598.1_5'UTR	p.S436C	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	11	1532	-		Colorectal(252;0.0846)	436			CUB 1.		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Missense_Mutation	SNP	ENST00000357947.3	37	c.1307C>G	CCDS7449.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.909178	0.72868	.	.	ENSG00000095587	ENST00000357947	T	0.51574	0.7	5.11	5.11	0.69529	CUB (5);	0.000000	0.45361	D	0.000369	D	0.83008	0.5161	H	0.99415	4.555	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90575	0.4525	10	0.87932	D	0	.	17.7077	0.88313	0.0:0.0:1.0:0.0	.	436	Q9Y6L7	TLL2_HUMAN	C	436	ENSP00000350630:S436C	ENSP00000350630:S436C	S	-	2	0	TLL2	98147010	1.000000	0.71417	0.925000	0.36789	0.296000	0.27459	9.464000	0.97655	2.654000	0.90174	0.650000	0.86243	TCC		0.572	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1			24	48	0	0	0	1	0	24	48				
SUV420H1	51111	broad.mit.edu	37	11	67942577	67942577	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:67942577C>G	ENST00000304363.4	-	5	804	c.451G>C	c.(451-453)Gag>Cag	p.E151Q	SUV420H1_ENST00000402789.1_Missense_Mutation_p.E151Q|SUV420H1_ENST00000402185.2_Missense_Mutation_p.E128Q|SUV420H1_ENST00000401547.2_Missense_Mutation_p.E151Q|SUV420H1_ENST00000405515.1_Missense_Mutation_p.E151Q	NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	151					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						AAGGCTTTCTCCAAGTGTTCA	0.353																																						ENST00000304363.4																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						c.(451-453)Gag>Cag		suppressor of variegation 4-20 homolog 1 (Drosophila)							140.0	126.0	131.0					11																	67942577		2200	4294	6494	SO:0001583	missense	51111				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr11:67942577C>G	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.451G>C	11.37:g.67942577C>G	ENSP00000305899:p.Glu151Gln					SUV420H1_ENST00000401547.2_Missense_Mutation_p.E151Q|SUV420H1_ENST00000402185.2_Missense_Mutation_p.E128Q|SUV420H1_ENST00000405515.1_Missense_Mutation_p.E151Q|SUV420H1_ENST00000402789.1_Missense_Mutation_p.E151Q	p.E151Q	NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN			5	804	-			151					B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	37	c.451G>C	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.968080	0.92855	.	.	ENSG00000110066	ENST00000304363;ENST00000401547;ENST00000405515;ENST00000402789;ENST00000402185;ENST00000453170;ENST00000458496	T;T;T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04;1.04;1.04	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.58850	0.2151	L	0.42245	1.32	0.80722	D	1	B;B;P;D	0.89917	0.231;0.146;0.72;1.0	B;B;P;D	0.91635	0.181;0.314;0.506;0.999	T	0.58607	-0.7607	10	0.54805	T	0.06	-36.127	18.7044	0.91632	0.0:1.0:0.0:0.0	.	128;151;151;151	B7WNX0;B5MCB3;Q4FZB7-2;Q4FZB7	.;.;.;SV421_HUMAN	Q	151;151;151;151;128;80;80	ENSP00000305899:E151Q;ENSP00000385965:E151Q;ENSP00000385640:E151Q;ENSP00000385005:E151Q;ENSP00000384724:E128Q;ENSP00000406377:E80Q;ENSP00000403233:E80Q	ENSP00000305899:E151Q	E	-	1	0	SUV420H1	67699153	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.623000	0.83113	2.665000	0.90641	0.585000	0.79938	GAG		0.353	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635		7	25	0	0	0	1	0	7	25				
NDST4	64579	broad.mit.edu	37	4	115891626	115891626	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr4:115891626G>C	ENST00000264363.2	-	4	1859	c.1181C>G	c.(1180-1182)tCt>tGt	p.S394C		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	394	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CTCTACTAAAGATGACTCGTT	0.443																																						ENST00000264363.2																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(1180-1182)tCt>tGt		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4							127.0	114.0	119.0					4																	115891626		2203	4300	6503	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115891626G>C	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.1181C>G	4.37:g.115891626G>C	ENSP00000264363:p.Ser394Cys						p.S394C	NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	4	1859	-		Ovarian(17;0.156)	394			Heparan sulfate N-deacetylase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.1181C>G	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.550601	0.27739	.	.	ENSG00000138653	ENST00000264363	T	0.37411	1.2	5.79	5.79	0.91817	.	0.050957	0.85682	D	0.000000	T	0.54919	0.1888	L	0.55103	1.725	0.33409	D	0.578447	D	0.59357	0.985	P	0.61275	0.886	T	0.59289	-0.7482	10	0.40728	T	0.16	.	20.0206	0.97499	0.0:0.0:1.0:0.0	.	394	Q9H3R1	NDST4_HUMAN	C	394	ENSP00000264363:S394C	ENSP00000264363:S394C	S	-	2	0	NDST4	116111075	0.905000	0.30787	0.048000	0.18961	0.773000	0.43773	4.093000	0.57714	2.731000	0.93534	0.591000	0.81541	TCT		0.443	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		17	32	0	0	0	1	0	17	32				
P4HTM	54681	broad.mit.edu	37	3	49043524	49043524	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:49043524C>T	ENST00000383729.4	+	8	1563	c.1192C>T	c.(1192-1194)Cgt>Tgt	p.R398C	WDR6_ENST00000395474.3_5'Flank|P4HTM_ENST00000343546.4_Missense_Mutation_p.R459C|WDR6_ENST00000415265.2_5'Flank|WDR6_ENST00000448293.1_5'Flank|WDR6_ENST00000608424.1_5'Flank	NM_177939.2	NP_808808.1	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	398	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	CGTGGACCTCCGTGACACACG	0.587																																						ENST00000343546.4																			0				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(1375-1377)Cgt>Tgt		prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	Vitamin C(DB00126)						102.0	95.0	97.0					3																	49043524		2203	4300	6503	SO:0001583	missense	54681					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr3:49043524C>T		CCDS2781.2, CCDS43089.1	3p21.31	2009-01-14			ENSG00000178467	ENSG00000178467			28858	protein-coding gene	gene with protein product	"""Prolyl hydroxlase domain-containing 4"", ""hypoxia inducible factor prolyl 4 hydroxylase"""	614584				12163023, 17726031	Standard	XR_245139		Approved	P4H-TM, PHD4, PH4, HIFPH4, FLJ20262, EGLN4, PH-4	uc003cvh.3	Q9NXG6	OTTHUMG00000074057	ENST00000383729.4:c.1192C>T	3.37:g.49043524C>T	ENSP00000373235:p.Arg398Cys					P4HTM_ENST00000383729.4_Missense_Mutation_p.R398C	p.R459C	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN			8	1743	+			398			Fe2OG dioxygenase.		Q6PAG6|Q8TCJ9|Q8WV55|Q96F22|Q9BW77	Missense_Mutation	SNP	ENST00000383729.4	37	c.1375C>T	CCDS43089.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.912012	0.52439	.	.	ENSG00000178467	ENST00000383729;ENST00000343546	T	0.59502	0.26	5.85	4.97	0.65823	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.071298	0.56097	D	0.000021	T	0.62539	0.2436	N	0.25789	0.76	0.38759	D	0.954293	P;D	0.89917	0.468;1.0	B;D	0.68621	0.098;0.959	T	0.65001	-0.6274	10	0.37606	T	0.19	-13.9465	13.9748	0.64265	0.2762:0.7238:0.0:0.0	.	459;398	Q9NXG6-3;Q9NXG6	.;P4HTM_HUMAN	C	398;459	ENSP00000373235:R398C	ENSP00000341422:R459C	R	+	1	0	P4HTM	49018528	0.290000	0.24343	0.998000	0.56505	0.933000	0.57130	0.585000	0.23879	1.458000	0.47871	-0.181000	0.13052	CGT		0.587	P4HTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157211.1	NM_177938		4	173	0	0	0	1	0	4	173				
UBR1	197131	broad.mit.edu	37	15	43363031	43363031	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr15:43363031C>T	ENST00000290650.4	-	5	699	c.621G>A	c.(619-621)tgG>tgA	p.W207*	UBR1_ENST00000382177.2_Nonsense_Mutation_p.W207*	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	207					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TTTCCTCTTCCCATATAGTCA	0.373																																						ENST00000290650.4																			0				NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58						c.(619-621)tgG>tgA		ubiquitin protein ligase E3 component n-recognin 1							169.0	160.0	163.0					15																	43363031		2203	4299	6502	SO:0001587	stop_gained	197131				cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding	g.chr15:43363031C>T		CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"""Ubiquitin protein ligase E3 component n-recognins"""	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.621G>A	15.37:g.43363031C>T	ENSP00000290650:p.Trp207*					UBR1_ENST00000382177.2_Nonsense_Mutation_p.W207*	p.W207*	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)	5	699	-		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)	207					O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Nonsense_Mutation	SNP	ENST00000290650.4	37	c.621G>A	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	C	35	5.526256	0.96431	.	.	ENSG00000159459	ENST00000290650;ENST00000382177;ENST00000546274	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-27.864	19.59	0.95506	0.0:1.0:0.0:0.0	.	.	.	.	X	207	.	ENSP00000290650:W207X	W	-	3	0	UBR1	41150323	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.204000	0.72143	2.639000	0.89480	0.655000	0.94253	TGG		0.373	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916		24	90	0	0	0	1	0	24	90				
NPIPB15	440348	broad.mit.edu	37	16	74425456	74425456	+	Silent	SNP	C	C	T	rs2868596		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr16:74425456C>T	ENST00000429990.1	+	7	906	c.810C>T	c.(808-810)ctC>ctT	p.L270L				A6NHN6	NPB15_HUMAN	nuclear pore complex interacting protein family, member B15	270	Pro-rich.					extracellular region (GO:0005576)											CCGAATGTCTCCTTCATCCCC	0.488																																						ENST00000429990.1																			0											c.(808-810)ctC>ctT		nuclear pore complex interacting protein family, member B15							143.0	140.0	141.0					16																	74425456		2181	4288	6469	SO:0001819	synonymous_variant	440348							g.chr16:74425456C>T	BC160029		16q22.3	2013-06-11	2013-06-11	2013-06-11	ENSG00000196436	ENSG00000196436			34409	protein-coding gene	gene with protein product			"""nuclear pore complex interacting protein-like 2"""	NPIPL2			Standard	XM_005256273		Approved	LOC440348	uc010vmt.1	A6NHN6	OTTHUMG00000156916	ENST00000429990.1:c.810C>T	16.37:g.74425456C>T							p.L270L							7	906	+								C9J9U8	Silent	SNP	ENST00000429990.1	37	c.810C>T																																																																																					0.488	NPIPB15-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000346597.2	NM_001018059		28	175	0	0	0	1	0	28	175				
STPG2	285555	broad.mit.edu	37	4	99064195	99064195	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr4:99064195G>A	ENST00000295268.3	-	1	196	c.107C>T	c.(106-108)aCa>aTa	p.T36I		NM_174952.2	NP_777612.1	Q8N412	STPG2_HUMAN	sperm-tail PG-rich repeat containing 2	36																	CATCTTACCTGTCGCCTGCTG	0.557											OREG0016268	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000295268.3																			0											c.(106-108)aCa>aTa		sperm-tail PG-rich repeat containing 2							62.0	41.0	48.0					4																	99064195		2203	4300	6503	SO:0001583	missense	285555							g.chr4:99064195G>A	BC036870	CCDS3645.1	4q22.3-q23	2013-10-11	2012-07-30	2012-07-30	ENSG00000163116	ENSG00000163116			28712	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 37"""	C4orf37		23031811	Standard	NM_174952		Approved	MGC46496	uc003htt.2	Q8N412	OTTHUMG00000131009	ENST00000295268.3:c.107C>T	4.37:g.99064195G>A	ENSP00000295268:p.Thr36Ile		OREG0016268	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1340		p.T36I	NM_174952.2	NP_777612.1					1	196	-									Missense_Mutation	SNP	ENST00000295268.3	37	c.107C>T	CCDS3645.1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.456891	0.26161	.	.	ENSG00000163116	ENST00000295268	T	0.12255	2.7	5.53	5.53	0.82687	.	0.732798	0.13293	N	0.398859	T	0.23249	0.0562	L	0.41236	1.265	0.38977	D	0.958879	P	0.49307	0.922	P	0.52386	0.697	T	0.00934	-1.1509	10	0.62326	D	0.03	-7.5129	14.9756	0.71269	0.0:0.0:1.0:0.0	.	36	Q8N412	CD037_HUMAN	I	36	ENSP00000295268:T36I	ENSP00000295268:T36I	T	-	2	0	C4orf37	99283218	0.999000	0.42202	0.952000	0.39060	0.652000	0.38707	4.456000	0.60081	2.605000	0.88082	0.650000	0.86243	ACA		0.557	STPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253642.1	NM_174952		7	15	0	0	0	1	0	7	15				
SPATA31D1	389763	broad.mit.edu	37	9	84608465	84608465	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr9:84608465G>T	ENST00000344803.2	+	4	3127	c.3080G>T	c.(3079-3081)aGa>aTa	p.R1027I		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1027					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.R1027I(2)									TCCCTTAGAAGAGGTACTACA	0.448																																						ENST00000344803.2																			2	Substitution - Missense(2)	p.R1027I(2)	lung(2)								c.(3079-3081)aGa>aTa		SPATA31 subfamily D, member 1							156.0	159.0	158.0					9																	84608465		1849	4097	5946	SO:0001583	missense	389763							g.chr9:84608465G>T		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.3080G>T	9.37:g.84608465G>T	ENSP00000341988:p.Arg1027Ile						p.R1027I	NM_001001670.2	NP_001001670.1					4	3127	+									Missense_Mutation	SNP	ENST00000344803.2	37	c.3080G>T	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.244741	0.22796	.	.	ENSG00000214929	ENST00000344803	T	0.05382	3.45	0.796	-0.246	0.13022	.	.	.	.	.	T	0.02230	0.0069	N	0.14661	0.345	0.09310	N	1	P	0.43024	0.798	B	0.28232	0.087	T	0.44003	-0.9356	9	0.21540	T	0.41	1.7631	3.2032	0.06657	0.339:0.0:0.661:0.0	.	1027	Q6ZQQ2	F75D1_HUMAN	I	1027	ENSP00000341988:R1027I	ENSP00000341988:R1027I	R	+	2	0	FAM75D1	83798285	0.029000	0.19370	0.004000	0.12327	0.005000	0.04900	0.757000	0.26433	-0.101000	0.12219	-0.311000	0.09066	AGA		0.448	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		25	269	1	0	7.07758e-08	1	7.32738e-08	25	269				
TBX22	50945	broad.mit.edu	37	X	79286536	79286536	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:79286536G>A	ENST00000373294.5	+	8	1517	c.1489G>A	c.(1489-1491)Gac>Aac	p.D497N	TBX22_ENST00000442340.1_Missense_Mutation_p.D377N|TBX22_ENST00000373296.3_Missense_Mutation_p.D497N|TBX22_ENST00000373291.1_Missense_Mutation_p.D377N	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	497					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AGTGAATGACGACAGTCAAGT	0.348																																						ENST00000442340.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(1129-1131)Gac>Aac		T-box 22							70.0	63.0	65.0					X																	79286536		2203	4300	6503	SO:0001583	missense	50945				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:79286536G>A	AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"""T-boxes"""	11600	protein-coding gene	gene with protein product		300307	"""cleft palate and/or ankyloglossia"""	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.1489G>A	X.37:g.79286536G>A	ENSP00000362390:p.Asp497Asn					TBX22_ENST00000373291.1_Missense_Mutation_p.D377N|TBX22_ENST00000373294.5_Missense_Mutation_p.D497N|TBX22_ENST00000373296.3_Missense_Mutation_p.D497N	p.D377N	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN			9	1619	+			497					Q5JZ06|Q96LC0|Q9HBF1	Missense_Mutation	SNP	ENST00000373294.5	37	c.1129G>A	CCDS14445.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.621561	0.00118	.	.	ENSG00000122145	ENST00000373296;ENST00000442340;ENST00000373294;ENST00000373291	D;D;D;D	0.86562	-2.14;-1.84;-2.14;-1.84	3.96	-1.26	0.09376	.	1.017900	0.07839	N	0.962754	T	0.64427	0.2597	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.52741	-0.8535	10	0.27082	T	0.32	.	5.0507	0.14507	0.5279:0.154:0.3182:0.0	.	497	Q9Y458	TBX22_HUMAN	N	497;377;497;377	ENSP00000362393:D497N;ENSP00000396394:D377N;ENSP00000362390:D497N;ENSP00000362388:D377N	ENSP00000362388:D377N	D	+	1	0	TBX22	79173192	0.998000	0.40836	0.010000	0.14722	0.076000	0.17211	1.868000	0.39509	-0.263000	0.09378	-0.505000	0.04504	GAC		0.348	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	NM_016954		13	50	0	0	0	1	0	13	50				
USP34	9736	broad.mit.edu	37	2	61441396	61441396	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:61441396C>G	ENST00000398571.2	-	68	8557	c.8481G>C	c.(8479-8481)aaG>aaC	p.K2827N	USP34_ENST00000472689.1_5'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2827					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			AGGCAATGTTCTTGGTTACCA	0.443																																						ENST00000398571.2																			0				autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(8479-8481)aaG>aaC		ubiquitin specific peptidase 34							170.0	163.0	165.0					2																	61441396		2040	4206	6246	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61441396C>G	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.8481G>C	2.37:g.61441396C>G	ENSP00000381577:p.Lys2827Asn					USP34_ENST00000472689.1_5'UTR	p.K2827N	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		68	8557	-			2827					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.8481G>C	CCDS42686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.74|16.74	3.206802|3.206802	0.58343|0.58343	.|.	.|.	ENSG00000115464|ENSG00000115464	ENST00000411912|ENST00000263989;ENST00000398569;ENST00000398571	.|T	.|0.44881	.|0.91	5.78|5.78	5.78|5.78	0.91487|0.91487	.|Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.40886|0.40886	0.1135|0.1135	L|L	0.42245|0.42245	1.32|1.32	0.58432|0.58432	D|D	0.999997|0.999997	.|P	.|0.47762	.|0.9	.|P	.|0.44811	.|0.461	T|T	0.28332|0.28332	-1.0047|-1.0047	5|10	.|0.56958	.|D	.|0.05	.|.	13.2408|13.2408	0.59995|0.59995	0.0:0.9276:0.0:0.0724|0.0:0.9276:0.0:0.0724	.|.	.|2827	.|Q70CQ2	.|UBP34_HUMAN	Q|N	587|2675;2675;2827	.|ENSP00000381577:K2827N	.|ENSP00000263989:K2675N	E|K	-|-	1|3	0|2	USP34|USP34	61294900|61294900	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.089000|3.089000	0.50183|0.50183	2.738000|2.738000	0.93877|0.93877	0.591000|0.591000	0.81541|0.81541	GAA|AAG		0.443	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			54	128	0	0	0	1	0	54	128				
PCDHGA12	26025	broad.mit.edu	37	5	140874379	140874379	+	Silent	SNP	C	C	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:140874379C>A	ENST00000252085.3	+	2	2572	c.2430C>A	c.(2428-2430)gcC>gcA	p.A810A	PCDHGC5_ENST00000252087.1_Silent_p.A822A|PCDHGA7_ENST00000518325.1_Silent_p.A810A|PCDHGB4_ENST00000519479.1_Silent_p.A801A|PCDHGA3_ENST00000253812.6_Silent_p.A810A|PCDHGA6_ENST00000517434.1_Silent_p.A810A|PCDHGA4_ENST00000571252.1_Silent_p.A809A|PCDHGA11_ENST00000398587.2_Silent_p.A813A|PCDHGA9_ENST00000573521.1_Silent_p.A810A|PCDHGA11_ENST00000518882.1_Silent_p.A628A|PCDHGC3_ENST00000308177.3_Silent_p.A812A|PCDHGB2_ENST00000522605.1_Silent_p.A809A|PCDHGB3_ENST00000576222.1_Silent_p.A807A|PCDHGA5_ENST00000518069.1_Silent_p.A809A|PCDHGA8_ENST00000398604.2_Silent_p.A810A|PCDHGB6_ENST00000520790.1_Silent_p.A808A|PCDHGB1_ENST00000523390.1_Silent_p.A805A|PCDHGC4_ENST00000306593.1_Silent_p.A816A|PCDHGA10_ENST00000398610.2_Silent_p.A814A|PCDHGB7_ENST00000398594.2_Silent_p.A807A|PCDHGA2_ENST00000394576.2_Silent_p.A810A|PCDHGA1_ENST00000517417.1_Silent_p.A809A	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	810					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACAGCAAGCCCCGCCCAACA	0.607																																						ENST00000252085.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58						c.(2428-2430)gcC>gcA									81.0	80.0	80.0					5																	140874379		2203	4300	6503	SO:0001819	synonymous_variant	26025							g.chr5:140874379C>A	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.2430C>A	5.37:g.140874379C>A						PCDHGB3_ENST00000576222.1_Silent_p.A807A|PCDHGA2_ENST00000394576.2_Silent_p.A810A|PCDHGA4_ENST00000571252.1_Silent_p.A809A|PCDHGB1_ENST00000523390.1_Silent_p.A805A|PCDHGB2_ENST00000522605.1_Silent_p.A809A|PCDHGA3_ENST00000253812.6_Silent_p.A810A|PCDHGA7_ENST00000518325.1_Silent_p.A810A|PCDHGA9_ENST00000573521.1_Silent_p.A810A|PCDHGB4_ENST00000519479.1_Silent_p.A801A|PCDHGB6_ENST00000520790.1_Silent_p.A808A|PCDHGA11_ENST00000518882.1_Silent_p.A628A|PCDHGA1_ENST00000517417.1_Silent_p.A809A|PCDHGA5_ENST00000518069.1_Silent_p.A809A|PCDHGA6_ENST00000517434.1_Silent_p.A810A|PCDHGA8_ENST00000398604.2_Silent_p.A810A|PCDHGA10_ENST00000398610.2_Silent_p.A814A|PCDHGC3_ENST00000308177.3_Silent_p.A812A|PCDHGC4_ENST00000306593.1_Silent_p.A816A|PCDHGC5_ENST00000252087.1_Silent_p.A822A|PCDHGA11_ENST00000398587.2_Silent_p.A813A|PCDHGB7_ENST00000398594.2_Silent_p.A807A	p.A810A	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	2572	+								O15100|Q6UW70|Q9Y5D7	Silent	SNP	ENST00000252085.3	37	c.2430C>A	CCDS4260.1																																																																																				0.607	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		20	51	1	0	5.35356e-11	1	5.62763e-11	20	51				
ZNF532	55205	broad.mit.edu	37	18	56587240	56587240	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr18:56587240C>T	ENST00000336078.4	+	4	2497	c.1721C>T	c.(1720-1722)tCg>tTg	p.S574L	ZNF532_ENST00000591083.1_Missense_Mutation_p.S574L|ZNF532_ENST00000589288.1_Missense_Mutation_p.S574L|ZNF532_ENST00000591808.1_Missense_Mutation_p.S574L|ZNF532_ENST00000591230.1_Missense_Mutation_p.S574L	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	574					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						CAGGTGGTGTCGTCCTTGCAG	0.517																																						ENST00000336078.4																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						c.(1720-1722)tCg>tTg		zinc finger protein 532							28.0	26.0	27.0					18																	56587240		2203	4293	6496	SO:0001583	missense	55205				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:56587240C>T	AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"""Zinc fingers, C2H2-type"""	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.1721C>T	18.37:g.56587240C>T	ENSP00000338217:p.Ser574Leu					ZNF532_ENST00000591083.1_Missense_Mutation_p.S574L|ZNF532_ENST00000591808.1_Missense_Mutation_p.S574L|ZNF532_ENST00000591230.1_Missense_Mutation_p.S574L|ZNF532_ENST00000589288.1_Missense_Mutation_p.S574L	p.S574L	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN			4	2497	+			574					Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Missense_Mutation	SNP	ENST00000336078.4	37	c.1721C>T	CCDS11969.1	.	.	.	.	.	.	.	.	.	.	-	17.26	3.343224	0.61073	.	.	ENSG00000074657	ENST00000336078	T	0.01767	4.65	5.75	5.75	0.90469	.	0.181558	0.48767	D	0.000164	T	0.02418	0.0074	L	0.58810	1.83	0.34066	D	0.65783	P	0.50066	0.931	B	0.27608	0.081	T	0.54569	-0.8274	10	0.36615	T	0.2	-2.5682	19.634	0.95722	0.0:1.0:0.0:0.0	.	574	Q9HCE3	ZN532_HUMAN	L	574	ENSP00000338217:S574L	ENSP00000338217:S574L	S	+	2	0	ZNF532	54738220	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	3.788000	0.55446	2.743000	0.94032	0.544000	0.68410	TCG		0.517	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	NM_018181		8	27	0	0	0	1	0	8	27				
SSH1	54434	broad.mit.edu	37	12	109182988	109182988	+	Silent	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:109182988C>T	ENST00000326495.5	-	15	2019	c.1926G>A	c.(1924-1926)gtG>gtA	p.V642V	SSH1_ENST00000360239.3_Silent_p.V330V	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	642					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						AGGAAGGCTTCACTTTGTTAA	0.542																																						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.(1924-1926)gtG>gtA		slingshot protein phosphatase 1							23.0	23.0	23.0					12																	109182988		2203	4300	6503	SO:0001819	synonymous_variant	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.chr12:109182988C>T	BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30579	protein-coding gene	gene with protein product		606778	"""slingshot homolog 1 (Drosophila)"""			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.1926G>A	12.37:g.109182988C>T						SSH1_ENST00000360239.3_Silent_p.V330V	p.V642V	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN			15	2019	-			642					Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Silent	SNP	ENST00000326495.5	37	c.1926G>A	CCDS9121.1																																																																																				0.542	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	NM_018984		5	10	0	0	0	1	0	5	10				
HNRNPUL2	221092	broad.mit.edu	37	11	62489831	62489831	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:62489831C>G	ENST00000301785.5	-	7	1309	c.1117G>C	c.(1117-1119)Gaa>Caa	p.E373Q	HNRNPUL2-BSCL2_ENST00000403734.2_Missense_Mutation_p.E373Q	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	373	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						AAGGAAAGTTCTACTTCTTCA	0.443																																						ENST00000301785.5																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1117-1119)Gaa>Caa		heterogeneous nuclear ribonucleoprotein U-like 2							85.0	88.0	87.0					11																	62489831		1885	4109	5994	SO:0001583	missense	221092				cell killing	nucleus	ATP binding|nucleic acid binding	g.chr11:62489831C>G		CCDS41659.1	11q12	2013-07-16		2008-04-18	ENSG00000214753	ENSG00000214753			25451	protein-coding gene	gene with protein product				HNRPUL2			Standard	NM_001079559		Approved	DKFZp762N1910	uc001nuw.3	Q1KMD3	OTTHUMG00000167773	ENST00000301785.5:c.1117G>C	11.37:g.62489831C>G	ENSP00000301785:p.Glu373Gln					RP11-831H9.16_ENST00000403734.2_Missense_Mutation_p.E373Q	p.E373Q	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN			7	1309	-			373			B30.2/SPRY.		Q8N3B3	Missense_Mutation	SNP	ENST00000301785.5	37	c.1117G>C	CCDS41659.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.392151	0.83011	.	.	ENSG00000214753	ENST00000301785	T	0.74002	-0.8	5.5	4.59	0.56863	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.177411	0.48286	D	0.000185	D	0.83977	0.5371	M	0.80746	2.51	0.38491	D	0.947987	D	0.58268	0.982	P	0.62491	0.903	D	0.86500	0.1803	10	0.52906	T	0.07	-16.7601	11.9638	0.53023	0.0:0.9174:0.0:0.0826	.	373	Q1KMD3	HNRL2_HUMAN	Q	373	ENSP00000301785:E373Q	ENSP00000301785:E373Q	E	-	1	0	HNRNPUL2	62246407	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	1.564000	0.49628	0.655000	0.94253	GAA		0.443	HNRNPUL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396208.2	XM_495877		40	93	0	0	0	1	0	40	93				
ZNF770	54989	broad.mit.edu	37	15	35274087	35274087	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr15:35274087G>A	ENST00000356321.4	-	3	1893	c.1549C>T	c.(1549-1551)Cac>Tac	p.H517Y		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	517					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		CTTTTTAAGTGAGCTGACTGT	0.343																																						ENST00000356321.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29						c.(1549-1551)Cac>Tac		zinc finger protein 770							58.0	59.0	59.0					15																	35274087		2201	4298	6499	SO:0001583	missense	54989				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:35274087G>A	BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"""Zinc fingers, C2H2-type"""	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.1549C>T	15.37:g.35274087G>A	ENSP00000348673:p.His517Tyr						p.H517Y	NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)	3	1893	-		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)	517					Q6ZMZ6|Q9NWV2	Missense_Mutation	SNP	ENST00000356321.4	37	c.1549C>T	CCDS10042.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.337358	0.41398	.	.	ENSG00000198146	ENST00000356321	T	0.52526	0.66	5.1	5.1	0.69264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000001	T	0.46268	0.1384	N	0.21508	0.67	0.25701	N	0.985583	P	0.48503	0.911	P	0.52793	0.709	T	0.36065	-0.9763	10	0.12766	T	0.61	-6.2734	18.6985	0.91611	0.0:0.0:1.0:0.0	.	517	Q6IQ21	ZN770_HUMAN	Y	517	ENSP00000348673:H517Y	ENSP00000348673:H517Y	H	-	1	0	ZNF770	33061379	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.119000	0.57891	2.646000	0.89796	0.467000	0.42956	CAC		0.343	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251896.2	NM_014106		23	58	0	0	0	1	0	23	58				
CYC1	1537	broad.mit.edu	37	8	145152146	145152146	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr8:145152146G>A	ENST00000318911.4	+	7	958	c.885G>A	c.(883-885)atG>atA	p.M295I	SHARPIN_ENST00000533948.1_5'Flank	NM_001916.3	NP_001907	P08574	CY1_HUMAN	cytochrome c-1	295					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to glucagon (GO:0033762)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|respiratory chain (GO:0070469)	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity (GO:0045155)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGTTGATGATGATGGCTCTGC	0.592																																						ENST00000318911.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15						c.(883-885)atG>atA		cytochrome c-1							110.0	95.0	100.0					8																	145152146		2203	4300	6503	SO:0001583	missense	1537				respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding	g.chr8:145152146G>A	BC001006	CCDS6415.1	8q24	2011-07-04			ENSG00000179091	ENSG00000179091		"""Mitochondrial respiratory chain complex / Complex III"""	2579	protein-coding gene	gene with protein product		123980					Standard	NM_001916		Approved	UQCR4	uc003zaz.4	P08574	OTTHUMG00000165242	ENST00000318911.4:c.885G>A	8.37:g.145152146G>A	ENSP00000317159:p.Met295Ile						p.M295I	NM_001916.3	NP_001907.2	P08574	CY1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		7	958	+	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		295					Q5U062|Q6FHS7	Missense_Mutation	SNP	ENST00000318911.4	37	c.885G>A	CCDS6415.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.719696	0.00700	.	.	ENSG00000179091	ENST00000318911	T	0.27402	1.67	4.61	4.61	0.57282	Cytochrome c1, transmembrane anchor, C-terminal (2);	0.119854	0.64402	D	0.000017	T	0.09949	0.0244	N	0.01242	-0.935	0.35773	D	0.821032	B	0.13594	0.008	B	0.12837	0.008	T	0.18999	-1.0319	10	0.02654	T	1	-21.6029	13.3	0.60319	0.0:0.0:1.0:0.0	.	295	P08574	CY1_HUMAN	I	295	ENSP00000317159:M295I	ENSP00000317159:M295I	M	+	3	0	CYC1	145224134	0.722000	0.28017	1.000000	0.80357	0.205000	0.24178	1.174000	0.31932	2.299000	0.77371	0.561000	0.74099	ATG		0.592	CYC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382895.1	NM_001916		14	26	0	0	0	1	0	14	26				
MRPL52	122704	broad.mit.edu	37	14	23303385	23303385	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr14:23303385G>A	ENST00000355151.5	+	5	257	c.227G>A	c.(226-228)cGa>cAa	p.R76Q	MRPL52_ENST00000557221.1_Missense_Mutation_p.R4Q|MRPL52_ENST00000555536.1_Silent_p.T19T|MRPL52_ENST00000397496.3_Missense_Mutation_p.R75Q|MRPL52_ENST00000397505.2_Silent_p.T54T|MRPL52_ENST00000556840.1_Missense_Mutation_p.R17Q|MRPL52_ENST00000311892.6_Missense_Mutation_p.E13K|MRPL52_ENST00000553711.1_Missense_Mutation_p.R17Q|MRPL52_ENST00000432849.3_Silent_p.T77T|MRPL52_ENST00000555345.1_Missense_Mutation_p.R17Q|MMP14_ENST00000311852.6_5'Flank	NM_178336.2|NM_180982.2|NM_181306.2	NP_848026.1|NP_851313.1|NP_851823.1	Q86TS9	RM52_HUMAN	mitochondrial ribosomal protein L52	76					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	structural constituent of ribosome (GO:0003735)					all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		TTTCAGAGACGAGTTGTACTG	0.443																																						ENST00000355151.5																			0											c.(226-228)cGa>cAa		mitochondrial ribosomal protein L52							85.0	72.0	76.0					14																	23303385		2203	4300	6503	SO:0001583	missense	122704				translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	g.chr14:23303385G>A	AK000450	CCDS9575.1, CCDS9576.1, CCDS41917.1, CCDS41918.1	14q11.2	2012-09-13			ENSG00000172590	ENSG00000172590		"""Mitochondrial ribosomal proteins / large subunits"""	16655	protein-coding gene	gene with protein product		611856				11551941, 11943462	Standard	NM_178336		Approved		uc001wgw.4	Q86TS9	OTTHUMG00000028703	ENST00000355151.5:c.227G>A	14.37:g.23303385G>A	ENSP00000347277:p.Arg76Gln					MRPL52_ENST00000556840.1_Missense_Mutation_p.R17Q|MRPL52_ENST00000397505.2_Silent_p.T54T|MRPL52_ENST00000555536.1_Silent_p.T19T|MRPL52_ENST00000557221.1_Missense_Mutation_p.R4Q|MRPL52_ENST00000397496.3_Missense_Mutation_p.R75Q|MRPL52_ENST00000432849.3_Silent_p.T77T|MRPL52_ENST00000553711.1_Missense_Mutation_p.R17Q|MRPL52_ENST00000311892.6_Missense_Mutation_p.E13K|MRPL52_ENST00000555345.1_Missense_Mutation_p.R17Q	p.R76Q	NM_178336.2|NM_180982.2|NM_181306.2	NP_848026.1|NP_851313.1|NP_851823.1	Q86TS9	RM52_HUMAN		GBM - Glioblastoma multiforme(265;0.00551)	5	257	+	all_cancers(95;9.47e-05)		76					A6NMQ8|A8MXK5|A8MYI6|G3XCN9|Q6NVH8	Missense_Mutation	SNP	ENST00000355151.5	37	c.227G>A	CCDS41917.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.9|24.9	4.579047|4.579047	0.86645|0.86645	.|.	.|.	ENSG00000172590|ENSG00000172590	ENST00000311892|ENST00000355151;ENST00000397496;ENST00000555345;ENST00000553711;ENST00000557221;ENST00000556840	.|T;T;T;T;T;T	.|0.74737	.|1.84;1.84;1.84;1.84;-0.87;1.84	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	.|0.000000	.|0.64402	.|D	.|0.000003	D|D	0.85813|0.85813	0.5784|0.5784	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.977	D|D	0.86749|0.86749	0.1959|0.1959	4|9	.|0.72032	.|D	.|0.01	-19.5457|-19.5457	14.6067|14.6067	0.68483|0.68483	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|75;76	.|G3XCN9;Q86TS9	.|.;RM52_HUMAN	K|Q	13|76;75;17;17;4;17	.|ENSP00000347277:R76Q;ENSP00000380633:R75Q;ENSP00000451081:R17Q;ENSP00000451303:R17Q;ENSP00000451436:R4Q;ENSP00000451481:R17Q	.|ENSP00000347277:R76Q	E|R	+|+	1|2	0|0	MRPL52|MRPL52	22373225|22373225	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.709000|0.709000	0.40893|0.40893	4.146000|4.146000	0.58072|0.58072	2.824000|2.824000	0.97209|0.97209	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.443	MRPL52-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071657.4	NM_180982		20	35	0	0	0	1	0	20	35				
MKL2	57496	broad.mit.edu	37	16	14307474	14307474	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr16:14307474G>A	ENST00000341243.5	+	4	316	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K	MKL2_ENST00000318282.5_Missense_Mutation_p.E117K|MKL2_ENST00000573051.1_Missense_Mutation_p.E66K|MKL2_ENST00000571589.1_Missense_Mutation_p.E117K|MKL2_ENST00000572567.1_Missense_Mutation_p.E106K|MKL2_ENST00000574045.1_Missense_Mutation_p.E117K			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	106					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCACATTTTAGAAGGTAAAGG	0.303																																						ENST00000571589.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(349-351)Gaa>Aaa		MKL/myocardin-like 2							90.0	85.0	87.0					16																	14307474		2197	4300	6497	SO:0001583	missense	57496				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity	g.chr16:14307474G>A	AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.316G>A	16.37:g.14307474G>A	ENSP00000345841:p.Glu106Lys					MKL2_ENST00000341243.5_Missense_Mutation_p.E106K|MKL2_ENST00000318282.5_Missense_Mutation_p.E117K|MKL2_ENST00000572567.1_Missense_Mutation_p.E106K|MKL2_ENST00000573051.1_Missense_Mutation_p.E66K|MKL2_ENST00000574045.1_Missense_Mutation_p.E117K	p.E117K	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN			6	521	+			106					A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Missense_Mutation	SNP	ENST00000341243.5	37	c.349G>A		.	.	.	.	.	.	.	.	.	.	g	34	5.326584	0.95708	.	.	ENSG00000186260	ENST00000318282;ENST00000389126;ENST00000341243	D;D	0.99854	-7.19;-7.19	5.86	5.86	0.93980	.	0.049116	0.85682	D	0.000000	D	0.99701	0.9886	L	0.34521	1.04	0.54753	D	0.999986	D;D;D;D	0.89917	0.987;0.997;1.0;1.0	P;P;D;D	0.85130	0.63;0.893;0.997;0.981	D	0.97382	0.9983	10	0.72032	D	0.01	-17.7929	19.1901	0.93663	0.0:0.0:1.0:0.0	.	66;117;106;117	Q9ULH7-2;B4DGT8;Q9ULH7;Q9ULH7-4	.;.;MKL2_HUMAN;.	K	117;106;106	ENSP00000339086:E117K;ENSP00000345841:E106K	ENSP00000339086:E117K	E	+	1	0	MKL2	14214975	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.543000	0.67225	2.776000	0.95493	0.655000	0.94253	GAA		0.303	MKL2-202	KNOWN	basic	protein_coding	protein_coding		NM_014048		7	41	0	0	0	1	0	7	41				
ACSF3	197322	broad.mit.edu	37	16	89167208	89167208	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr16:89167208C>T	ENST00000317447.4	+	3	496	c.119C>T	c.(118-120)tCg>tTg	p.S40L	ACSF3_ENST00000378345.4_Intron|ACSF3_ENST00000406948.3_Missense_Mutation_p.S40L	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	40					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|malonate catabolic process (GO:0090410)	mitochondrion (GO:0005739)	acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)|malonyl-CoA synthetase activity (GO:0090409)			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		GTGGCCCGCTCGGACAGGAGC	0.677																																						ENST00000317447.4																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15						c.(118-120)tCg>tTg		acyl-CoA synthetase family member 3							23.0	27.0	25.0					16																	89167208		2196	4298	6494	SO:0001583	missense	197322				fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding	g.chr16:89167208C>T	AK075499	CCDS10974.1, CCDS73926.1	16q24.3	2013-01-15			ENSG00000176715	ENSG00000176715		"""Acyl-CoA synthetase family"""	27288	protein-coding gene	gene with protein product	"""malonyl-CoA synthetase"""	614245				17762044, 21846720	Standard	XM_005256293		Approved		uc010cig.2	Q4G176	OTTHUMG00000138044	ENST00000317447.4:c.119C>T	16.37:g.89167208C>T	ENSP00000320646:p.Ser40Leu					ACSF3_ENST00000406948.3_Missense_Mutation_p.S40L|ACSF3_ENST00000378345.4_Intron	p.S40L	NM_001127214.2|NM_001243279.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_777577.2	Q4G176	ACSF3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0281)	3	496	+			40					A8K4J8|C9JQL6|Q6INA0|Q8N2F7	Missense_Mutation	SNP	ENST00000317447.4	37	c.119C>T	CCDS10974.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.516769	0.44763	.	.	ENSG00000176715	ENST00000317447;ENST00000537290;ENST00000406948	T;T;T	0.55413	0.96;0.52;0.96	5.02	1.81	0.25067	.	1.421170	0.04103	N	0.313178	T	0.47563	0.1452	L	0.58101	1.795	0.09310	N	0.999994	B	0.28324	0.207	B	0.21546	0.035	T	0.31475	-0.9942	10	0.42905	T	0.14	-0.019	5.0792	0.14647	0.0:0.5348:0.2669:0.1983	.	40	Q4G176	ACSF3_HUMAN	L	40	ENSP00000320646:S40L;ENSP00000440734:S40L;ENSP00000384627:S40L	ENSP00000320646:S40L	S	+	2	0	ACSF3	87694709	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.397000	0.20883	0.531000	0.28639	0.650000	0.86243	TCG		0.677	ACSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269919.1	NM_174917		18	56	0	0	0	1	0	18	56				
RPUSD3	285367	broad.mit.edu	37	3	9879810	9879810	+	Missense_Mutation	SNP	G	G	A	rs115670492		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:9879810G>A	ENST00000383820.5	-	9	947	c.946C>T	c.(946-948)Cgg>Tgg	p.R316W	RPUSD3_ENST00000433535.2_Missense_Mutation_p.R301W|TTLL3_ENST00000455274.1_Intron|RPUSD3_ENST00000424438.1_3'UTR	NM_173659.3	NP_775930.2	Q6P087	RUSD3_HUMAN	RNA pseudouridylate synthase domain containing 3	316					pseudouridine synthesis (GO:0001522)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			central_nervous_system(2)|endometrium(3)|lung(2)	7	Medulloblastoma(99;0.227)					AGAAGGAGCCGATGTAGGTGG	0.662													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17860	0.0		0.0	False		,,,				2504	0.0					ENST00000383820.5																			0				central_nervous_system(2)|endometrium(3)|lung(2)	7						c.(946-948)Cgg>Tgg		RNA pseudouridylate synthase domain containing 3		G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	43.0	44.0	44.0		901,946	-0.6	0.0	3	dbSNP_132	44	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	RPUSD3	NM_001142547.1,NM_173659.3	101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	301/337,316/352	9879810	1,13005	2203	4300	6503	SO:0001583	missense	285367				pseudouridine synthesis		pseudouridine synthase activity|RNA binding	g.chr3:9879810G>A	BC032135	CCDS2586.2, CCDS46744.1	3p25.3	2013-02-11			ENSG00000156990	ENSG00000156990		"""RNA pseudouridylate synthase domain containing"""	28437	protein-coding gene	gene with protein product						12477932	Standard	NM_173659		Approved	MGC29784	uc011atk.2	Q6P087	OTTHUMG00000128441	ENST00000383820.5:c.946C>T	3.37:g.9879810G>A	ENSP00000373331:p.Arg316Trp					TTLL3_ENST00000455274.1_Intron|RPUSD3_ENST00000433535.2_Missense_Mutation_p.R301W|RPUSD3_ENST00000424438.1_3'UTR	p.R316W	NM_173659.3	NP_775930.2	Q6P087	RUSD3_HUMAN			9	947	-	Medulloblastoma(99;0.227)		316					B4DS39|Q6P6A9|Q8N1B2|Q8NAV3	Missense_Mutation	SNP	ENST00000383820.5	37	c.946C>T	CCDS2586.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	12.51	1.961141	0.34565	0.0	1.16E-4	ENSG00000156990	ENST00000433535;ENST00000383820	T;T	0.23348	1.91;1.91	5.11	-0.572	0.11745	Pseudouridine synthase, catalytic domain (1);	1.175340	0.05876	N	0.625475	T	0.25644	0.0624	L	0.52364	1.645	0.09310	N	0.999998	B;B	0.18741	0.03;0.023	B;B	0.12156	0.007;0.003	T	0.38265	-0.9669	10	0.72032	D	0.01	.	9.496	0.38989	0.1753:0.0961:0.7286:0.0	.	301;316	Q6P087-2;Q6P087	.;RUSD3_HUMAN	W	301;316	ENSP00000398921:R301W;ENSP00000373331:R316W	ENSP00000373331:R316W	R	-	1	2	RPUSD3	9854810	0.000000	0.05858	0.000000	0.03702	0.903000	0.53119	-0.601000	0.05687	-0.533000	0.06323	-0.266000	0.10368	CGG		0.662	RPUSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250238.1	NM_173659		11	22	0	0	0	1	0	11	22				
ASPM	259266	broad.mit.edu	37	1	197071384	197071384	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:197071384C>T	ENST00000367409.4	-	18	7253	c.6997G>A	c.(6997-6999)Gag>Aag	p.E2333K	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2333	IQ 22. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTGTGCATCTCTCGCATCCTT	0.403																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(6997-6999)Gag>Aag		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							145.0	136.0	139.0					1																	197071384		2203	4300	6503	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197071384C>T	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.6997G>A	1.37:g.197071384C>T	ENSP00000356379:p.Glu2333Lys					ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	p.E2333K	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			18	7253	-			2333			IQ 22.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.6997G>A	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	c	11.88	1.771352	0.31320	.	.	ENSG00000066279	ENST00000367409;ENST00000367406	T	0.70282	-0.47	4.35	1.16	0.20824	.	0.323977	0.25677	N	0.029025	T	0.63861	0.2547	L	0.33485	1.01	0.09310	N	1	P;B	0.48350	0.909;0.1	D;B	0.63033	0.91;0.074	T	0.55535	-0.8126	10	0.08837	T	0.75	.	1.8837	0.03234	0.1346:0.3619:0.3195:0.1839	.	319;2333	E7EQ84;Q8IZT6	.;ASPM_HUMAN	K	2333;319	ENSP00000356379:E2333K	ENSP00000356376:E319K	E	-	1	0	ASPM	195338007	0.000000	0.05858	0.476000	0.27291	0.962000	0.63368	-0.951000	0.03885	0.557000	0.29117	0.558000	0.71614	GAG		0.403	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		10	110	0	0	0	1	0	10	110				
ARFIP2	23647	broad.mit.edu	37	11	6500028	6500028	+	Silent	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:6500028C>T	ENST00000254584.2	-	5	560	c.477G>A	c.(475-477)caG>caA	p.Q159Q	ARFIP2_ENST00000423813.2_Silent_p.Q121Q|TIMM10B_ENST00000254616.6_5'Flank|TIMM10B_ENST00000472836.1_5'Flank|ARFIP2_ENST00000525235.1_Silent_p.Q159Q|ARFIP2_ENST00000445086.2_Silent_p.Q74Q|ARFIP2_ENST00000396777.3_Silent_p.Q159Q|TIMM10B_ENST00000530751.1_5'Flank	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN	ADP-ribosylation factor interacting protein 2	159	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				actin cytoskeleton organization (GO:0030036)|cellular component movement (GO:0006928)|lamellipodium assembly (GO:0030032)|ruffle organization (GO:0031529)|small GTPase mediated signal transduction (GO:0007264)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|Rac GTPase binding (GO:0048365)			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CATGCTGGGTCTGCAGCAGGC	0.597																																					Melanoma(119;796 1674 9049 20480 24794)	ENST00000254584.2																			0				endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15						c.(475-477)caG>caA		ADP-ribosylation factor interacting protein 2							56.0	44.0	48.0					11																	6500028		2201	4296	6497	SO:0001819	synonymous_variant	23647				actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction	cell cortex|plasma membrane|ruffle	GTP binding|GTP-dependent protein binding|Rac GTPase binding	g.chr11:6500028C>T	BC000392	CCDS7765.1, CCDS55739.1, CCDS55740.1, CCDS73250.1	11p15	2008-08-01	2008-08-01		ENSG00000132254	ENSG00000132254			17160	protein-coding gene	gene with protein product	"""arfaptin 2"""	601638				8670882, 9038142	Standard	NM_012402		Approved	POR1	uc010ran.2	P53365	OTTHUMG00000133406	ENST00000254584.2:c.477G>A	11.37:g.6500028C>T						ARFIP2_ENST00000525235.1_Silent_p.Q159Q|ARFIP2_ENST00000445086.2_Silent_p.Q74Q|ARFIP2_ENST00000423813.2_Silent_p.Q121Q|ARFIP2_ENST00000396777.3_Silent_p.Q159Q	p.Q159Q	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	5	560	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	159			AH.		B4DX86|B4E306|D3DQT5	Silent	SNP	ENST00000254584.2	37	c.477G>A	CCDS7765.1																																																																																				0.597	ARFIP2-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387044.1	NM_012402		13	29	0	0	0	1	0	13	29				
UBA6	55236	broad.mit.edu	37	4	68504713	68504713	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr4:68504713C>G	ENST00000322244.5	-	19	1743	c.1684G>C	c.(1684-1686)Gat>Cat	p.D562H		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	562					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						ATAATTACATCTTGTTTAGTA	0.333																																						ENST00000322244.4																			0				central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						c.(1684-1686)Gat>Cat		ubiquitin-like modifier activating enzyme 6							170.0	158.0	163.0					4																	68504713		2203	4298	6501	SO:0001583	missense	55236				protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	g.chr4:68504713C>G	AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"""Ubiquitin-like modifier activating enzymes"""	25581	protein-coding gene	gene with protein product	"""UBA6, ubiquitin-activating enzyme E1"""	611361	"""ubiquitin-activating enzyme E1-like 2"""	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.1684G>C	4.37:g.68504713C>G	ENSP00000313454:p.Asp562His						p.D562H	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN			19	1743	-			562					A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Missense_Mutation	SNP	ENST00000322244.5	37	c.1684G>C	CCDS3516.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.91|12.91	2.078152|2.078152	0.36662|0.36662	.|.	.|.	ENSG00000033178|ENSG00000033178	ENST00000322244|ENST00000505673	T|.	0.78003|.	-1.14|.	5.63|5.63	5.63|5.63	0.86233|0.86233	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);|.	0.093650|.	0.64402|.	D|.	0.000001|.	T|T	0.73156|0.73156	0.3551|0.3551	L|L	0.58428|0.58428	1.81|1.81	0.80722|0.80722	D|D	1|1	P|.	0.40000|.	0.698|.	B|.	0.40982|.	0.345|.	T|T	0.69617|0.69617	-0.5097|-0.5097	10|5	0.59425|.	D|.	0.04|.	-6.5632|-6.5632	19.6768|19.6768	0.95939|0.95939	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	562|.	A0AVT1|.	UBA6_HUMAN|.	H|N	562|95	ENSP00000313454:D562H|.	ENSP00000313454:D562H|.	D|K	-|-	1|3	0|2	UBA6|UBA6	68187308|68187308	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.459000|0.459000	0.32528|0.32528	4.136000|4.136000	0.58004|0.58004	2.665000|2.665000	0.90641|0.90641	0.591000|0.591000	0.81541|0.81541	GAT|AAG		0.333	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	NM_018227		15	39	0	0	0	1	0	15	39				
GTF2F1	2962	broad.mit.edu	37	19	6389541	6389541	+	Silent	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:6389541C>G	ENST00000394456.5	-	4	704	c.240G>C	c.(238-240)cgG>cgC	p.R80R	CTB-180A7.6_ENST00000599584.1_RNA|GTF2F1_ENST00000429701.2_Silent_p.R52R	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	80					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cell junction (GO:0030054)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIF complex (GO:0005674)	catalytic activity (GO:0003824)|DNA binding (GO:0003677)|phosphatase activator activity (GO:0019211)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						ACTTCTTCCTCCGAGCCTCCT	0.607																																						ENST00000394456.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						c.(238-240)cgG>cgC		general transcription factor IIF, polypeptide 1, 74kDa							135.0	135.0	135.0					19																	6389541		2203	4300	6503	SO:0001819	synonymous_variant	2962				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding	g.chr19:6389541C>G		CCDS12165.1	19p13.3	2010-03-23	2002-08-29		ENSG00000125651	ENSG00000125651		"""General transcription factors"""	4652	protein-coding gene	gene with protein product		189968	"""general transcription factor IIF, polypeptide 1 (74kD subunit)"""			1734284	Standard	NM_002096		Approved	TFIIF, BTF4, RAP74, TF2F1	uc002meq.2	P35269	OTTHUMG00000168087	ENST00000394456.5:c.240G>C	19.37:g.6389541C>G						CTB-180A7.6_ENST00000599584.1_RNA|GTF2F1_ENST00000429701.2_Silent_p.R52R	p.R80R	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN			4	704	-			80					B2RCS0|Q9BWN0	Silent	SNP	ENST00000394456.5	37	c.240G>C	CCDS12165.1																																																																																				0.607	GTF2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398033.1	NM_002096		60	190	0	0	0	1	0	60	190				
MYADM	91663	broad.mit.edu	37	19	54377298	54377298	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:54377298T>C	ENST00000391769.2	+	3	795	c.515T>C	c.(514-516)gTa>gCa	p.V172A	MYADM_ENST00000391768.2_Missense_Mutation_p.V172A|MYADM_ENST00000336967.3_Missense_Mutation_p.V172A|MYADM_ENST00000391771.1_Missense_Mutation_p.V172A|MYADM_ENST00000391770.4_Missense_Mutation_p.V172A|AC008440.5_ENST00000413496.2_RNA	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	172	MARVEL 2. {ECO:0000255|PROSITE- ProRule:PRU00581}.				establishment of endothelial barrier (GO:0061028)|membrane raft organization (GO:0031579)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of gene expression (GO:0010629)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of protein kinase C signaling (GO:0090038)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell migration (GO:0030335)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein targeting to plasma membrane (GO:0072661)	cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|ruffle (GO:0001726)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		ATGGCCACCGTACCCGGGCTG	0.652																																						ENST00000391769.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(514-516)gTa>gCa		myeloid-associated differentiation marker							73.0	67.0	69.0					19																	54377298		2203	4300	6503	SO:0001583	missense	91663					integral to membrane		g.chr19:54377298T>C	AF087882	CCDS12866.1	19q13.33-q13.4	2004-07-23			ENSG00000179820	ENSG00000179820			7544	protein-coding gene	gene with protein product		609959				10733104, 12075932	Standard	NM_001020818		Approved		uc002qcl.3	Q96S97	OTTHUMG00000060775	ENST00000391769.2:c.515T>C	19.37:g.54377298T>C	ENSP00000375649:p.Val172Ala					MYADM_ENST00000391768.2_Missense_Mutation_p.V172A|MYADM_ENST00000391770.4_Missense_Mutation_p.V172A|MYADM_ENST00000391771.1_Missense_Mutation_p.V172A|MYADM_ENST00000336967.3_Missense_Mutation_p.V172A	p.V172A	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN		GBM - Glioblastoma multiforme(134;0.0488)	3	795	+	Ovarian(34;0.19)		172			MARVEL 2.		B2RE58|Q542Z1|Q7Z507|Q8N9R4|Q96CS6|Q96SK9	Missense_Mutation	SNP	ENST00000391769.2	37	c.515T>C	CCDS12866.1	.	.	.	.	.	.	.	.	.	.	T	10.43	1.346968	0.24426	.	.	ENSG00000179820	ENST00000421337;ENST00000336967;ENST00000391770;ENST00000448420;ENST00000439000;ENST00000391771;ENST00000415619;ENST00000391769;ENST00000391768	T;T;T;T;T;T;T	0.25414	1.8;1.8;1.8;1.8;1.8;1.8;1.8	4.21	4.21	0.49690	Marvel (1);MARVEL-like domain (1);	0.245141	0.32563	N	0.005938	T	0.19406	0.0466	L	0.50919	1.6	0.27730	N	0.94484	P	0.38280	0.625	B	0.34931	0.192	T	0.10989	-1.0606	10	0.29301	T	0.29	-22.601	6.6155	0.22774	0.0:0.1102:0.0:0.8898	.	172	Q96S97	MYADM_HUMAN	A	172;172;172;172;172;172;135;172;172	ENSP00000398269:V172A;ENSP00000337222:V172A;ENSP00000375650:V172A;ENSP00000416919:V172A;ENSP00000375651:V172A;ENSP00000375649:V172A;ENSP00000375648:V172A	ENSP00000337222:V172A	V	+	2	0	MYADM	59069110	0.986000	0.35501	0.018000	0.16275	0.491000	0.33493	1.867000	0.39499	1.691000	0.51100	0.260000	0.18958	GTA		0.652	MYADM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134337.1	NM_138373		32	82	0	0	0	1	0	32	82				
MUC4	4585	broad.mit.edu	37	3	195511818	195511818	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:195511818G>A	ENST00000463781.3	-	2	7092	c.6633C>T	c.(6631-6633)gtC>gtT	p.V2211V	MUC4_ENST00000475231.1_Silent_p.V2211V|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AAGGGCTGGTGACAGGAAGAG	0.597																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(6631-6633)gtC>gtT		mucin 4, cell surface associated							36.0	29.0	31.0					3																	195511818		689	1590	2279	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195511818G>A	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.6633C>T	3.37:g.195511818G>A						MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.V2211V	p.V2211V	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	7092	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1000					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	c.6633C>T	CCDS54700.1																																																																																				0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	3	0	0	0	1	0	3	3				
LGALS3BP	3959	broad.mit.edu	37	17	76967898	76967898	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:76967898G>A	ENST00000262776.3	-	6	1826	c.1518C>T	c.(1516-1518)ctC>ctT	p.L506L	LGALS3BP_ENST00000591778.1_3'UTR	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	506					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CAGACTTGGTGAGGCCCAGGA	0.602											OREG0024787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(89;1105 1755 18102 21513)	ENST00000262776.3																			0				NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1516-1518)ctC>ctT		lectin, galactoside-binding, soluble, 3 binding protein							52.0	47.0	48.0					17																	76967898		2203	4300	6503	SO:0001819	synonymous_variant	3959				cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity	g.chr17:76967898G>A	L13210	CCDS11759.1	17q25	2014-07-09				ENSG00000108679		"""BTB/POZ domain containing"", ""Endogenous ligands"""	6564	protein-coding gene	gene with protein product	"""L3 antigen"", ""Mac-2-binding protein"", ""serum protein 90K"", ""transport and golgi organization 10 homolog B (Drosophila)"""	600626				7698018, 8034587, 8390986	Standard	NM_005567		Approved	MAC-2-BP, 90K, BTBD17B, TANGO10B, M2BP, gp90, CyCAP	uc002jwh.3	Q08380		ENST00000262776.3:c.1518C>T	17.37:g.76967898G>A			OREG0024787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1172	LGALS3BP_ENST00000591778.1_3'UTR	p.L506L	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)		6	1826	-			506					Q7M4S0|Q9UCH8|Q9UCH9|Q9UCI0	Silent	SNP	ENST00000262776.3	37	c.1518C>T	CCDS11759.1																																																																																				0.602	LGALS3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437785.3	NM_005567		18	40	0	0	0	1	0	18	40				
PCDHA2	56146	broad.mit.edu	37	5	140175878	140175878	+	Silent	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:140175878C>T	ENST00000526136.1	+	1	1329	c.1329C>T	c.(1327-1329)atC>atT	p.I443I	PCDHA2_ENST00000520672.2_Silent_p.I443I|PCDHA2_ENST00000378132.1_Silent_p.I443I|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	443	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGTGTCCATCGAGGTGGCCG	0.652																																						ENST00000526136.1																			0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71						c.(1327-1329)atC>atT									78.0	77.0	78.0					5																	140175878		2203	4300	6503	SO:0001819	synonymous_variant	56146							g.chr5:140175878C>T	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1329C>T	5.37:g.140175878C>T						PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Silent_p.I443I|PCDHA2_ENST00000378132.1_Silent_p.I443I|PCDHA1_ENST00000504120.2_Intron	p.I443I	NM_018905.2	NP_061728.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1329	+								O75287|Q9BTV3	Silent	SNP	ENST00000526136.1	37	c.1329C>T	CCDS54914.1																																																																																				0.652	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		45	127	0	0	0	1	0	45	127				
MCHR1	2847	broad.mit.edu	37	22	41077127	41077127	+	Missense_Mutation	SNP	C	C	T	rs369827677		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr22:41077127C>T	ENST00000249016.4	+	2	1160	c.464C>T	c.(463-465)tCg>tTg	p.S155L	MCHR1_ENST00000498400.1_3'UTR|MCHR1_ENST00000381433.2_Splice_Site_p.S155L	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	155					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|melanin-concentrating hormone receptor activity (GO:0030273)|neuropeptide receptor activity (GO:0008188)			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						ATCAACCTCTCGGTAGTAGAT	0.557																																						ENST00000249016.4																			0				endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						c.(463-465)tCg>tTg		melanin-concentrating hormone receptor 1		C	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	171.0	159.0	163.0		464	4.9	1.0	22		163	0,8600		0,0,4300	no	missense	MCHR1	NM_005297.3	145	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	155/423	41077127	1,13005	2203	4300	6503	SO:0001583	missense	2847				elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity	g.chr22:41077127C>T		CCDS14004.1	22q13.3	2014-06-05	2006-02-15	2006-02-15	ENSG00000128285	ENSG00000128285		"""GPCR / Class A : MCH receptors"""	4479	protein-coding gene	gene with protein product		601751	"""G protein-coupled receptor 24"""	GPR24			Standard	XM_005261581		Approved	SLC1, MCH1R	uc003ayz.3	Q99705	OTTHUMG00000150256	ENST00000249016.4:c.464C>T	22.37:g.41077127C>T	ENSP00000249016:p.Ser155Leu					MCHR1_ENST00000498400.1_3'UTR|MCHR1_ENST00000381433.2_Splice_Site_p.S155_splice	p.S155L	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN			2	1160	+			155					B2RBX6|Q5R3J1|Q96S47|Q9BV08	Missense_Mutation	SNP	ENST00000249016.4	37	c.464C>T	CCDS14004.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394796	0.83011	2.27E-4	0.0	ENSG00000128285	ENST00000249016;ENST00000381433	T;T	0.73363	0.98;-0.74	4.95	4.95	0.65309	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.86159	0.5866	M	0.77486	2.375	0.42515	D	0.992983	D	0.89917	1.0	D	0.73380	0.98	D	0.88299	0.2948	10	0.87932	D	0	.	17.1367	0.86742	0.0:1.0:0.0:0.0	.	155	Q99705	MCHR1_HUMAN	L	155	ENSP00000249016:S155L;ENSP00000370841:S155L	ENSP00000249016:S155L	S	+	2	0	MCHR1	39407073	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.772000	0.85439	2.459000	0.83118	0.563000	0.77884	TCG		0.557	MCHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317142.1	NM_005297		33	67	0	0	0	1	0	33	67				
PNPLA6	10908	broad.mit.edu	37	19	7607554	7607554	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:7607554C>G	ENST00000221249.6	+	14	1674	c.1243C>G	c.(1243-1245)Cgg>Ggg	p.R415G	PNPLA6_ENST00000414982.3_Missense_Mutation_p.R463G|PNPLA6_ENST00000600737.1_Missense_Mutation_p.R454G|PNPLA6_ENST00000450331.3_Missense_Mutation_p.R415G|PNPLA6_ENST00000545201.2_Missense_Mutation_p.R415G	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	454					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						AGCCCCCGCTCGGGTAAGGCT	0.706																																						ENST00000221249.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(1243-1245)Cgg>Ggg		patatin-like phospholipase domain containing 6							16.0	20.0	19.0					19																	7607554		2183	4271	6454	SO:0001583	missense	10908				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity	g.chr19:7607554C>G	AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"""Patatin-like phospholipase domain containing"""	16268	protein-coding gene	gene with protein product	"""neuropathy target esterase"""	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.1243C>G	19.37:g.7607554C>G	ENSP00000221249:p.Arg415Gly					PNPLA6_ENST00000545201.2_Missense_Mutation_p.R415G|PNPLA6_ENST00000450331.3_Missense_Mutation_p.R415G|PNPLA6_ENST00000600737.1_Missense_Mutation_p.R454G|PNPLA6_ENST00000414982.3_Missense_Mutation_p.R463G	p.R415G	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN			14	1674	+			454					A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Missense_Mutation	SNP	ENST00000221249.6	37	c.1243C>G	CCDS32891.1	.	.	.	.	.	.	.	.	.	.	C	5.263	0.234042	0.09969	.	.	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000544207;ENST00000450331	T;T;T;T	0.04654	3.64;3.58;3.62;3.64	5.11	1.66	0.24008	.	0.272332	0.36374	N	0.002622	T	0.13884	0.0336	L	0.56769	1.78	0.39867	D	0.973456	B;D;P;P	0.63046	0.015;0.992;0.946;0.6	B;D;P;B	0.70487	0.008;0.969;0.69;0.168	T	0.01162	-1.1432	10	0.33141	T	0.24	.	10.9835	0.47508	0.5108:0.4892:0.0:0.0	.	454;415;454;415	Q8IY17;F5H5K9;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.;.	G	415;415;463;352;415	ENSP00000221249:R415G;ENSP00000443323:R415G;ENSP00000407509:R463G;ENSP00000394348:R415G	ENSP00000221249:R415G	R	+	1	2	PNPLA6	7513554	0.904000	0.30761	0.259000	0.24435	0.129000	0.20672	0.801000	0.27055	0.137000	0.18759	-0.268000	0.10319	CGG		0.706	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702		13	32	0	0	0	1	0	13	32				
ZFYVE26	23503	broad.mit.edu	37	14	68265222	68265222	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr14:68265222G>C	ENST00000347230.4	-	11	1895	c.1757C>G	c.(1756-1758)tCt>tGt	p.S586C	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.S586C	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	586				S -> P (in Ref. 3; CAH18131). {ECO:0000305}.	cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AAGATCAGCAGAGGTGATGAG	0.512																																						ENST00000347230.4																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94						c.(1756-1758)tCt>tGt		zinc finger, FYVE domain containing 26							87.0	78.0	81.0					14																	68265222		2203	4300	6503	SO:0001583	missense	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68265222G>C	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.1757C>G	14.37:g.68265222G>C	ENSP00000251119:p.Ser586Cys					ZFYVE26_ENST00000555452.1_Missense_Mutation_p.S586C	p.S586C	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	11	1895	-			586	S -> P (in Ref. 3; CAH18131).				B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	c.1757C>G	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.857711	0.51376	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.28666	1.74;1.6	5.71	5.71	0.89125	.	0.444428	0.24978	N	0.034097	T	0.24586	0.0596	L	0.51422	1.61	0.28872	N	0.894898	B;B;B	0.29188	0.236;0.029;0.017	B;B;B	0.27170	0.077;0.026;0.007	T	0.16837	-1.0389	10	0.37606	T	0.19	-12.7485	5.1793	0.15152	0.077:0.135:0.6294:0.1586	.	586;586;586	Q68DK2-4;G3V2D8;Q68DK2	.;.;ZFY26_HUMAN	C	586;565;586	ENSP00000251119:S586C;ENSP00000450603:S586C	ENSP00000251119:S586C	S	-	2	0	ZFYVE26	67334975	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	2.947000	0.49058	2.710000	0.92621	0.655000	0.94253	TCT		0.512	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		27	39	0	0	0	1	0	27	39				
MTMR3	8897	broad.mit.edu	37	22	30415704	30415704	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr22:30415704G>A	ENST00000401950.2	+	17	2398	c.2056G>A	c.(2056-2058)Gag>Aag	p.E686K	MTMR3_ENST00000406629.1_Missense_Mutation_p.E686K|MTMR3_ENST00000351488.3_Missense_Mutation_p.E686K|MTMR3_ENST00000323630.5_Missense_Mutation_p.E550K|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000333027.3_Missense_Mutation_p.E686K|CTA-85E5.10_ENST00000453743.2_RNA	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	686					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			CGGAGTAGCTGAGGGGCAGAT	0.607																																						ENST00000333027.3																			0				breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17						c.(2056-2058)Gag>Aag		myotubularin related protein 3							58.0	67.0	64.0					22																	30415704		2203	4300	6503	SO:0001583	missense	8897				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:30415704G>A	U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.2056G>A	22.37:g.30415704G>A	ENSP00000384651:p.Glu686Lys					MTMR3_ENST00000351488.3_Missense_Mutation_p.E686K|MTMR3_ENST00000401950.2_Missense_Mutation_p.E686K|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000406629.1_Missense_Mutation_p.E686K|MTMR3_ENST00000323630.5_Missense_Mutation_p.E550K	p.E686K	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)		17	2384	+			686					A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Missense_Mutation	SNP	ENST00000401950.2	37	c.2056G>A	CCDS13870.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.559442	0.86335	.	.	ENSG00000100330	ENST00000401950;ENST00000333027;ENST00000323630;ENST00000351488;ENST00000406629	D;D;D;D;D	0.94828	-3.31;-3.29;-3.53;-3.34;-3.29	5.8	5.8	0.92144	.	2.546650	0.01016	N	0.003901	D	0.95881	0.8659	L	0.27053	0.805	0.80722	D	1	D;D;D	0.69078	0.99;0.997;0.99	P;P;P	0.59288	0.855;0.784;0.855	D	0.85448	0.1159	10	0.59425	D	0.04	.	19.0512	0.93046	0.0:0.0:1.0:0.0	.	686;686;686	Q13615-3;Q13615;Q13615-2	.;MTMR3_HUMAN;.	K	686;686;550;686;686	ENSP00000384651:E686K;ENSP00000331649:E686K;ENSP00000318070:E550K;ENSP00000307271:E686K;ENSP00000384077:E686K	ENSP00000318070:E550K	E	+	1	0	MTMR3	28745704	1.000000	0.71417	0.987000	0.45799	0.474000	0.32979	7.421000	0.80204	2.735000	0.93741	0.655000	0.94253	GAG		0.607	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090		41	90	0	0	0	1	0	41	90				
RALGAPB	57148	broad.mit.edu	37	20	37154617	37154617	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr20:37154617G>C	ENST00000262879.6	+	13	2266	c.1982G>C	c.(1981-1983)aGa>aCa	p.R661T	RALGAPB_ENST00000397040.1_Missense_Mutation_p.R661T|RALGAPB_ENST00000397038.1_Missense_Mutation_p.R439T|RALGAPB_ENST00000397042.3_Missense_Mutation_p.R661T			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	661					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CTGAAGTTGAGACTTGTGAAT	0.353																																						ENST00000262879.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(1981-1983)aGa>aCa		Ral GTPase activating protein, beta subunit (non-catalytic)							110.0	110.0	110.0					20																	37154617		2203	4300	6503	SO:0001583	missense	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37154617G>C	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.1982G>C	20.37:g.37154617G>C	ENSP00000262879:p.Arg661Thr					RALGAPB_ENST00000397042.3_Missense_Mutation_p.R661T|RALGAPB_ENST00000397040.1_Missense_Mutation_p.R661T|RALGAPB_ENST00000397038.1_Missense_Mutation_p.R439T	p.R661T			Q86X10	RLGPB_HUMAN			13	2266	+			661					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	ENST00000262879.6	37	c.1982G>C	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	G	32	5.173599	0.94807	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000397038;ENST00000397040;ENST00000438490	T;T	0.65178	-0.14;-0.14	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.78984	0.4370	M	0.68952	2.095	0.80722	D	1	D;D;D;D	0.76494	0.999;0.981;0.989;0.981	D;D;D;D	0.80764	0.994;0.962;0.985;0.962	T	0.77341	-0.2624	10	0.48119	T	0.1	.	20.0832	0.97789	0.0:0.0:1.0:0.0	.	489;661;661;661	A2A2F0;Q86X10-4;A2A2E9;Q86X10	.;.;.;RLGPB_HUMAN	T	661;661;661;439;661;489	ENSP00000262879:R661T;ENSP00000380233:R661T	ENSP00000262879:R661T	R	+	2	0	RALGAPB	36588031	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.471000	0.97696	2.751000	0.94390	0.650000	0.86243	AGA		0.353	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		22	100	0	0	0	1	0	22	100				
IL1RL1	9173	broad.mit.edu	37	2	102955360	102955360	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:102955360C>T	ENST00000233954.1	+	3	396	c.125C>T	c.(124-126)cCt>cTt	p.P42L	IL1RL1_ENST00000473175.1_3'UTR|IL1RL1_ENST00000409584.1_Missense_Mutation_p.P42L|IL1RL1_ENST00000404917.2_Intron|IL1RL1_ENST00000311734.2_Missense_Mutation_p.P42L|IL1RL1_ENST00000393393.3_Missense_Mutation_p.P42L	NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	42	Ig-like C2-type 1.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of macrophage activation (GO:0043032)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|interleukin-1 receptor activity (GO:0004908)|interleukin-33 receptor activity (GO:0002114)|receptor signaling protein activity (GO:0005057)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						CAAGGAAAACCTAGTTACACC	0.378																																						ENST00000311734.2																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						c.(124-126)cCt>cTt		interleukin 1 receptor-like 1							153.0	152.0	152.0					2																	102955360		2203	4300	6503	SO:0001583	missense	9173				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity	g.chr2:102955360C>T	D12764	CCDS2057.1, CCDS2058.1, CCDS74548.1	2q12	2013-01-29			ENSG00000115602	ENSG00000115602		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5998	protein-coding gene	gene with protein product	"""homolog of mouse growth stimulation-expressed"""	601203				1482686, 10191101, 16286016	Standard	NM_016232		Approved	ST2, FIT-1, ST2L, ST2V, DER4, T1, IL33R	uc002tbu.1	Q01638	OTTHUMG00000130782	ENST00000233954.1:c.125C>T	2.37:g.102955360C>T	ENSP00000233954:p.Pro42Leu					IL1RL1_ENST00000393393.3_Missense_Mutation_p.P42L|IL1RL1_ENST00000473175.1_3'UTR|IL1RL1_ENST00000233954.1_Missense_Mutation_p.P42L|IL1RL1_ENST00000409584.1_Missense_Mutation_p.P42L|IL1RL1_ENST00000404917.2_Intron	p.P42L			Q01638	ILRL1_HUMAN			3	464	+			42			Ig-like C2-type 1.		A8K6B3|B4E0I3|Q53TU7|Q8NEJ3|Q9ULV7|Q9UQ44	Missense_Mutation	SNP	ENST00000233954.1	37	c.125C>T	CCDS2057.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.739636	0.30774	.	.	ENSG00000115602	ENST00000233954;ENST00000393393;ENST00000311734;ENST00000409584	T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85	6.03	2.11	0.27256	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.932810	0.01839	N	0.035194	T	0.67420	0.2891	L	0.39898	1.24	0.09310	N	1	B;P	0.34864	0.134;0.473	B;B	0.34931	0.027;0.192	T	0.49943	-0.8885	10	0.27082	T	0.32	.	7.3836	0.26870	0.4552:0.468:0.0:0.0769	.	42;42	Q01638-2;Q01638	.;ILRL1_HUMAN	L	42	ENSP00000233954:P42L;ENSP00000377052:P42L;ENSP00000310371:P42L;ENSP00000386618:P42L	ENSP00000233954:P42L	P	+	2	0	IL1RL1	102321792	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.277000	0.18734	0.101000	0.17610	0.655000	0.94253	CCT		0.378	IL1RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253296.1	NM_016232		34	106	0	0	0	1	0	34	106				
ROBO2	6092	broad.mit.edu	37	3	77526649	77526649	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:77526649G>T	ENST00000461745.1	+	3	1373	c.473G>T	c.(472-474)cGg>cTg	p.R158L	ROBO2_ENST00000487694.3_Missense_Mutation_p.R174L|ROBO2_ENST00000332191.8_Missense_Mutation_p.R158L	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	158	Ig-like C2-type 2.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CAGCCTCCCCGGGGACACCCA	0.458																																						ENST00000461745.1																			0				NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(472-474)cGg>cTg		roundabout, axon guidance receptor, homolog 2 (Drosophila)							85.0	84.0	84.0					3																	77526649		1842	4080	5922	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77526649G>T	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.473G>T	3.37:g.77526649G>T	ENSP00000417164:p.Arg158Leu					ROBO2_ENST00000332191.8_Missense_Mutation_p.R158L|ROBO2_ENST00000487694.3_Missense_Mutation_p.R174L	p.R158L	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	3	1373	+			158			Ig-like C2-type 2.		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.473G>T	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	G	34	5.391677	0.95988	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191	T;T;T	0.67523	-0.27;-0.27;-0.27	5.87	5.87	0.94306	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.42053	D	0.000772	T	0.77301	0.4110	L	0.38175	1.15	0.34602	D	0.716632	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.78163	-0.2311	9	0.87932	D	0	.	20.2032	0.98269	0.0:0.0:1.0:0.0	.	174;158;158	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	L	174;174;174;158;158	ENSP00000417335:R174L;ENSP00000417164:R158L;ENSP00000327536:R158L	ENSP00000327536:R158L	R	+	2	0	ROBO2	77609339	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	9.869000	0.99810	2.785000	0.95823	0.650000	0.86243	CGG		0.458	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		23	102	1	0	5.26018e-13	1	5.58667e-13	23	102				
FEM1B	10116	broad.mit.edu	37	15	68583057	68583057	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr15:68583057C>G	ENST00000306917.4	+	2	1976	c.1361C>G	c.(1360-1362)tCt>tGt	p.S454C		NM_015322.4	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	454					apoptotic process (GO:0006915)|branching involved in prostate gland morphogenesis (GO:0060442)|epithelial cell maturation involved in prostate gland development (GO:0060743)|regulation of DNA damage checkpoint (GO:2000001)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death receptor binding (GO:0005123)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						GTGTGCATCTCTACCAAAACA	0.383																																						ENST00000306917.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						c.(1360-1362)tCt>tGt		fem-1 homolog b (C. elegans)							123.0	115.0	118.0					15																	68583057		2200	4298	6498	SO:0001583	missense	10116				apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity	g.chr15:68583057C>G		CCDS10228.1	15q22	2013-02-19	2001-11-28		ENSG00000169018	ENSG00000169018		"""Ankyrin repeat domain containing"""	3649	protein-coding gene	gene with protein product		613539	"""FEM-1 (C. elegans) homolog b"""			10623617	Standard	NM_015322		Approved		uc002arg.3	Q9UK73	OTTHUMG00000133285	ENST00000306917.4:c.1361C>G	15.37:g.68583057C>G	ENSP00000307298:p.Ser454Cys						p.S454C	NM_015322.3	NP_056137.1	Q9UK73	FEM1B_HUMAN			2	1976	+			454					O43146	Missense_Mutation	SNP	ENST00000306917.4	37	c.1361C>G	CCDS10228.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.809362	0.50421	.	.	ENSG00000169018	ENST00000306917	T	0.42513	0.97	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.49592	0.1566	L	0.44542	1.39	0.80722	D	1	D	0.60575	0.988	P	0.51101	0.659	T	0.42103	-0.9471	10	0.52906	T	0.07	2.9217	19.3601	0.94434	0.0:1.0:0.0:0.0	.	454	Q9UK73	FEM1B_HUMAN	C	454	ENSP00000307298:S454C	ENSP00000307298:S454C	S	+	2	0	FEM1B	66370111	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	4.928000	0.63447	2.826000	0.97356	0.491000	0.48974	TCT		0.383	FEM1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257065.1			26	84	0	0	0	1	0	26	84				
VPS53	55275	broad.mit.edu	37	17	465825	465825	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:465825C>T	ENST00000571805.1	-	14	1610	c.1474G>A	c.(1474-1476)Gag>Aag	p.E492K	VPS53_ENST00000437048.2_Missense_Mutation_p.E492K|VPS53_ENST00000401468.3_Missense_Mutation_p.E215K|VPS53_ENST00000446250.2_Missense_Mutation_p.E294K|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000291074.5_Missense_Mutation_p.E463K|VPS53_ENST00000576149.1_5'UTR			Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	492					protein transport (GO:0015031)	endosome (GO:0005768)|GARP complex (GO:0000938)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		ATCATGGGCTCCCCAGTACTG	0.552																																						ENST00000437048.2																			0				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19						c.(1474-1476)Gag>Aag		vacuolar protein sorting 53 homolog (S. cerevisiae)							84.0	78.0	80.0					17																	465825		2203	4300	6503	SO:0001583	missense	55275				protein transport	endosome membrane|Golgi apparatus		g.chr17:465825C>T		CCDS10995.1, CCDS45558.1	17p13.3	2007-07-13	2006-12-19			ENSG00000141252			25608	protein-coding gene	gene with protein product		615850	"""vacuolar protein sorting 53 (yeast)"""			15878329	Standard	NM_018289		Approved	FLJ10979, HCCS1	uc010cjo.2	Q5VIR6		ENST00000571805.1:c.1474G>A	17.37:g.465825C>T	ENSP00000459312:p.Glu492Lys					VPS53_ENST00000446250.2_Missense_Mutation_p.E294K|VPS53_ENST00000576149.1_5'UTR|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000401468.3_Missense_Mutation_p.E215K|VPS53_ENST00000291074.5_Missense_Mutation_p.E463K|VPS53_ENST00000571805.1_Missense_Mutation_p.E492K	p.E492K	NM_001128159.2	NP_001121631.1	Q5VIR6	VPS53_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)	14	1620	-			492					A8K2S8|B3FH42|Q8WYW3|Q9BRR2|Q9BY02|Q9NV25	Missense_Mutation	SNP	ENST00000571805.1	37	c.1474G>A		.	.	.	.	.	.	.	.	.	.	C	17.56	3.419313	0.62622	.	.	ENSG00000141252	ENST00000437048;ENST00000446250;ENST00000291074;ENST00000401468;ENST00000389040	T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.30039	0.0752	L	0.38175	1.15	0.80722	D	1	B;B;B;B;B	0.28470	0.213;0.035;0.019;0.002;0.004	B;B;B;B;B	0.33960	0.173;0.009;0.021;0.005;0.01	T	0.04752	-1.0929	10	0.14252	T	0.57	-29.4875	19.6321	0.95713	0.0:1.0:0.0:0.0	.	215;492;294;492;463	E7EVT8;Q5VIR6-4;G3V0H8;Q5VIR6;Q5VIR6-2	.;.;.;VPS53_HUMAN;.	K	492;294;463;215;444	ENSP00000401435:E492K;ENSP00000394386:E294K;ENSP00000291074:E463K;ENSP00000384294:E215K;ENSP00000373692:E444K	ENSP00000291074:E463K	E	-	1	0	VPS53	412575	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	7.427000	0.80284	2.884000	0.98904	0.655000	0.94253	GAG		0.552	VPS53-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000436940.2	NM_018289		30	73	0	0	0	1	0	30	73				
FASTKD3	79072	broad.mit.edu	37	5	7866918	7866918	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:7866918C>A	ENST00000264669.5	-	2	1415	c.1279G>T	c.(1279-1281)Gct>Tct	p.A427S	FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000341013.6_5'Flank|MTRR_ENST00000502509.1_Intron|MTRR_ENST00000440940.2_5'Flank|MTRR_ENST00000264668.2_5'Flank	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	427					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						CTAAATAAAGCAGAGGCATTT	0.338																																						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.(1279-1281)Gct>Tct		FAST kinase domains 3							55.0	56.0	56.0					5																	7866918		2203	4300	6503	SO:0001583	missense	79072				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr5:7866918C>A	AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.1279G>T	5.37:g.7866918C>A	ENSP00000264669:p.Ala427Ser					FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000502509.1_Intron	p.A427S	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN			2	1415	-			427					Q9BVD3	Missense_Mutation	SNP	ENST00000264669.5	37	c.1279G>T	CCDS3873.1	.	.	.	.	.	.	.	.	.	.	C	7.648	0.682247	0.14907	.	.	ENSG00000124279	ENST00000264669	T	0.47177	0.85	4.95	-0.0425	0.13863	FAST kinase leucine-rich (1);	0.770845	0.12470	N	0.466099	T	0.27524	0.0676	L	0.35414	1.06	0.09310	N	1	B	0.19445	0.036	B	0.23852	0.049	T	0.18116	-1.0347	10	0.16420	T	0.52	-5.2289	0.8382	0.01144	0.2988:0.342:0.1076:0.2516	.	427	Q14CZ7	FAKD3_HUMAN	S	427	ENSP00000264669:A427S	ENSP00000264669:A427S	A	-	1	0	FASTKD3	7919918	0.607000	0.26958	0.676000	0.29932	0.991000	0.79684	0.099000	0.15210	0.281000	0.22233	0.655000	0.94253	GCT		0.338	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	NM_024091		21	46	1	0	8.10497e-08	1	8.37695e-08	21	46				
AKNA	80709	broad.mit.edu	37	9	117139390	117139390	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr9:117139390C>G	ENST00000307564.4	-	3	858	c.697G>C	c.(697-699)Gaa>Caa	p.E233Q	AKNA_ENST00000374075.5_Missense_Mutation_p.E152Q|AKNA_ENST00000374088.3_Missense_Mutation_p.E233Q|AKNA_ENST00000312033.3_Missense_Mutation_p.E233Q|AKNA_ENST00000223791.3_5'Flank	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	233					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GGCAAGGTTTCTGCCAGGGCA	0.622																																						ENST00000307564.4																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						c.(697-699)Gaa>Caa		AT-hook transcription factor							44.0	44.0	44.0					9																	117139390		2203	4300	6503	SO:0001583	missense	80709				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:117139390C>G	AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.697G>C	9.37:g.117139390C>G	ENSP00000303769:p.Glu233Gln					AKNA_ENST00000374075.5_Missense_Mutation_p.E152Q|AKNA_ENST00000374088.3_Missense_Mutation_p.E233Q|AKNA_ENST00000312033.3_Missense_Mutation_p.E233Q	p.E233Q	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN			3	858	-			233					Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	ENST00000307564.4	37	c.697G>C	CCDS6805.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.199870	0.38905	.	.	ENSG00000106948	ENST00000307564;ENST00000374088;ENST00000374075;ENST00000312033;ENST00000394574	T;T;T;T	0.38077	2.4;2.4;2.4;1.16	4.49	2.56	0.30785	.	0.163613	0.29192	N	0.012861	T	0.37183	0.0994	L	0.29908	0.895	0.09310	N	0.999996	D;D;D	0.65815	0.995;0.965;0.98	P;P;P	0.61592	0.891;0.559;0.744	T	0.07404	-1.0774	10	0.32370	T	0.25	-5.7904	6.7806	0.23643	0.0:0.7798:0.0:0.2202	.	233;233;152	Q7Z591-6;Q7Z591;Q7Z591-2	.;AKNA_HUMAN;.	Q	233;233;152;233;233	ENSP00000303769:E233Q;ENSP00000363201:E233Q;ENSP00000363188:E152Q;ENSP00000309222:E233Q	ENSP00000303769:E233Q	E	-	1	0	AKNA	116179211	0.002000	0.14202	0.021000	0.16686	0.491000	0.33493	0.206000	0.17375	0.959000	0.37980	0.462000	0.41574	GAA		0.622	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767		17	31	0	0	0	1	0	17	31				
LY75	4065	broad.mit.edu	37	2	160755537	160755537	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:160755537G>A	ENST00000263636.4	-	2	155	c.128C>T	c.(127-129)aCg>aTg	p.T43M	LY75_ENST00000554112.1_Missense_Mutation_p.T43M|LY75_ENST00000553424.1_Missense_Mutation_p.T43M|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.T43M|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.T43M	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	43	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		GCACTTGCCCGTATTTCCATG	0.502																																						ENST00000263636.4																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59						c.(127-129)aCg>aTg		lymphocyte antigen 75							160.0	149.0	152.0					2																	160755537		2203	4300	6503	SO:0001583	missense	4065							g.chr2:160755537G>A	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"""CD molecules"", ""C-type lectin domain containing"""	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.128C>T	2.37:g.160755537G>A	ENSP00000263636:p.Thr43Met					LY75_ENST00000554112.1_Missense_Mutation_p.T43M|LY75_ENST00000553424.1_Missense_Mutation_p.T43M|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.T43M|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.T43M	p.T43M	NM_002349.3	NP_002340.2				COAD - Colon adenocarcinoma(177;0.132)	2	155	-								O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	ENST00000263636.4	37	c.128C>T	CCDS2211.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.788993	0.49997	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	6.02	4.23	0.50019	Ricin B-related lectin (1);Ricin B lectin (2);	0.242932	0.21532	N	0.073032	T	0.52693	0.1750	L	0.58101	1.795	0.24747	N	0.993007	D;D;D	0.76494	0.995;0.991;0.999	P;P;P	0.58721	0.686;0.592;0.844	T	0.48139	-0.9061	10	0.45353	T	0.12	-5.5494	3.3447	0.07131	0.1963:0.1175:0.5648:0.1214	.	43;43;43	O60449-3;O60449;O60449-2	.;LY75_HUMAN;.	M	43	ENSP00000451511:T43M;ENSP00000451446:T43M;ENSP00000263636:T43M;ENSP00000423463:T43M;ENSP00000421035:T43M	ENSP00000423463:T43M	T	-	2	0	LY75;LY75-CD302	160463783	0.989000	0.36119	0.806000	0.32338	0.523000	0.34469	2.152000	0.42272	0.888000	0.36160	0.655000	0.94253	ACG		0.502	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1			4	159	0	0	0	1	0	4	159				
MCOLN1	57192	broad.mit.edu	37	19	7601351	7601351	+	IGR	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:7601351C>T	ENST00000264079.6	+	0	2082				PNPLA6_ENST00000414982.3_Missense_Mutation_p.S120F|PNPLA6_ENST00000600737.1_Missense_Mutation_p.S111F|CTD-2207O23.10_ENST00000601870.1_3'UTR|PNPLA6_ENST00000450331.3_Missense_Mutation_p.S72F|PNPLA6_ENST00000221249.6_Missense_Mutation_p.S72F|PNPLA6_ENST00000545201.2_Missense_Mutation_p.S72F	NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1						calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular iron ion homeostasis (GO:0006879)|ion transmembrane transport (GO:0034220)|release of sequestered calcium ion into cytosol (GO:0051209)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cation channel activity (GO:0005261)|NAADP-sensitive calcium-release channel activity (GO:0072345)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CAATCCACCTCCTCCCTCGTG	0.547																																						ENST00000221249.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(214-216)tCc>tTc		patatin-like phospholipase domain containing 6							100.0	86.0	91.0					19																	7601351		2203	4300	6503	SO:0001628	intergenic_variant	10908				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity	g.chr19:7601351C>T	AF249319	CCDS12180.1	19p13.2	2011-12-16				ENSG00000090674		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13356	protein-coding gene	gene with protein product		605248				16382100	Standard	NM_020533		Approved	TRPML1, ML4, MLIV, MST080, MSTP080, TRPM-L1	uc002mgo.3	Q9GZU1			19.37:g.7601351C>T						CTD-2207O23.10_ENST00000601870.1_3'UTR|PNPLA6_ENST00000545201.2_Missense_Mutation_p.S72F|PNPLA6_ENST00000450331.3_Missense_Mutation_p.S72F|PNPLA6_ENST00000600737.1_Missense_Mutation_p.S111F|PNPLA6_ENST00000414982.3_Missense_Mutation_p.S120F	p.S72F	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN			6	646	+			111					D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	Missense_Mutation	SNP	ENST00000264079.6	37	c.215C>T	CCDS12180.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.968978	0.34754	.	.	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000544207;ENST00000450331	T;T;T;T	0.04454	3.63;3.62;3.62;3.63	5.23	5.23	0.72850	.	0.127261	0.53938	D	0.000049	T	0.06280	0.0162	L	0.38838	1.175	0.47547	D	0.999457	B;B;B;B	0.23058	0.047;0.016;0.079;0.016	B;B;B;B	0.26202	0.03;0.042;0.067;0.028	T	0.26395	-1.0104	10	0.59425	D	0.04	-36.2337	14.2993	0.66336	0.0:1.0:0.0:0.0	.	111;72;111;72	Q8IY17;F5H5K9;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.;.	F	72;72;120;9;72	ENSP00000221249:S72F;ENSP00000443323:S72F;ENSP00000407509:S120F;ENSP00000394348:S72F	ENSP00000221249:S72F	S	+	2	0	PNPLA6	7507351	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	5.360000	0.66086	2.442000	0.82660	0.561000	0.74099	TCC		0.547	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458974.2	NM_020533		11	30	0	0	0	1	0	11	30				
TLR8	51311	broad.mit.edu	37	X	12938837	12938837	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:12938837G>A	ENST00000218032.6	+	2	1765	c.1678G>A	c.(1678-1680)Gat>Aat	p.D560N	TLR8_ENST00000311912.5_Missense_Mutation_p.D578N	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	560					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	GGAAGTTCTAGATCTCAGCTA	0.333																																						ENST00000218032.6																			0				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(1678-1680)Gat>Aat		toll-like receptor 8							46.0	45.0	45.0					X																	12938837		2203	4300	6503	SO:0001583	missense	51311				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity	g.chrX:12938837G>A	AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.1678G>A	X.37:g.12938837G>A	ENSP00000218032:p.Asp560Asn					TLR8_ENST00000311912.5_Missense_Mutation_p.D578N	p.D560N	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN			2	1765	+			560					B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	ENST00000218032.6	37	c.1678G>A	CCDS14152.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.096648	0.76870	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.81163	-1.46;-1.46	5.97	5.97	0.96955	.	0.000000	0.41938	D	0.000788	D	0.87358	0.6157	L	0.56396	1.775	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.87761	0.2598	10	0.62326	D	0.03	.	13.5414	0.61676	0.0757:0.0:0.9243:0.0	.	560;578	Q9NR97;D1CS70	TLR8_HUMAN;.	N	560;578	ENSP00000218032:D560N;ENSP00000312082:D578N	ENSP00000218032:D560N	D	+	1	0	TLR8	12848758	1.000000	0.71417	0.990000	0.47175	0.875000	0.50365	6.741000	0.74837	2.532000	0.85374	0.600000	0.82982	GAT		0.333	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610		19	40	0	0	0	1	0	19	40				
CRYBA4	1413	broad.mit.edu	37	22	27024347	27024347	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr22:27024347G>C	ENST00000354760.3	+	5	431	c.396G>C	c.(394-396)atG>atC	p.M132I	CRYBA4_ENST00000466315.1_3'UTR	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	132	Beta/gamma crystallin 'Greek key' 3. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						TCCAGGCCATGGGATGGGAAG	0.562																																						ENST00000354760.3																			0				large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						c.(394-396)atG>atC		crystallin, beta A4							144.0	115.0	125.0					22																	27024347		2203	4300	6503	SO:0001583	missense	1413				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens	g.chr22:27024347G>C		CCDS13841.1	22q12.1	2008-06-10			ENSG00000196431	ENSG00000196431			2396	protein-coding gene	gene with protein product		123631				8999933, 960806	Standard	NM_001886		Approved		uc003acz.4	P53673	OTTHUMG00000150983	ENST00000354760.3:c.396G>C	22.37:g.27024347G>C	ENSP00000346805:p.Met132Ile					CRYBA4_ENST00000466315.1_3'UTR	p.M132I	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN			5	431	+			132			Beta/gamma crystallin 'Greek key' 3.		Q4VB22|Q6ICE4	Missense_Mutation	SNP	ENST00000354760.3	37	c.396G>C	CCDS13841.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245384	0.59103	.	.	ENSG00000196431	ENST00000354760	T	0.73897	-0.79	4.3	4.3	0.51218	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.090204	0.64402	D	0.000001	T	0.81442	0.4823	M	0.81942	2.565	0.80722	D	1	P	0.35226	0.491	P	0.46275	0.51	T	0.83353	-0.0002	10	0.52906	T	0.07	.	14.3103	0.66413	0.0:0.0:1.0:0.0	.	132	P53673	CRBA4_HUMAN	I	132	ENSP00000346805:M132I	ENSP00000346805:M132I	M	+	3	0	CRYBA4	25354347	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	8.222000	0.89777	2.242000	0.73789	0.655000	0.94253	ATG		0.562	CRYBA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320793.1	NM_001886		30	74	0	0	0	1	0	30	74				
MTA2	9219	broad.mit.edu	37	11	62362519	62362519	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:62362519C>T	ENST00000278823.2	-	15	1896	c.1507G>A	c.(1507-1509)Gcc>Acc	p.A503T	TUT1_ENST00000476907.1_5'Flank|MTA2_ENST00000524902.1_Missense_Mutation_p.A330T|MTA2_ENST00000527204.1_Missense_Mutation_p.A330T	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	503					ATP-dependent chromatin remodeling (GO:0043044)|chromatin assembly or disassembly (GO:0006333)|DNA methylation (GO:0006306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	histone deacetylase complex (GO:0000118)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|histone deacetylase activity (GO:0004407)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.A503T(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						GGAGTCTTGGCGGCCTTAGGA	0.527																																						ENST00000278823.2																			1	Substitution - Missense(1)	p.A503T(1)	skin(1)	endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						c.(1507-1509)Gcc>Acc		metastasis associated 1 family, member 2							113.0	116.0	115.0					11																	62362519		2202	4299	6501	SO:0001583	missense	9219				chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:62362519C>T	AB016591	CCDS8022.1	11q12-q13.1	2013-01-25	2004-12-15	2003-12-17	ENSG00000149480	ENSG00000149480		"""GATA zinc finger domain containing"""	7411	protein-coding gene	gene with protein product		603947	"""metastasis associated gene family, member 2"""	MTA1L1		9929979	Standard	NM_004739		Approved	MTA1-L1	uc001ntq.2	O94776	OTTHUMG00000167684	ENST00000278823.2:c.1507G>A	11.37:g.62362519C>T	ENSP00000278823:p.Ala503Thr					MTA2_ENST00000527204.1_Missense_Mutation_p.A330T|MTA2_ENST00000524902.1_Missense_Mutation_p.A330T	p.A503T	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN			15	1896	-			503					Q68DB1|Q9UQB5	Missense_Mutation	SNP	ENST00000278823.2	37	c.1507G>A	CCDS8022.1	.	.	.	.	.	.	.	.	.	.	C	8.312	0.822385	0.16678	.	.	ENSG00000149480	ENST00000278823;ENST00000524902;ENST00000527204	T;T;T	0.42900	1.53;0.96;0.96	5.63	4.72	0.59763	.	0.104763	0.64402	D	0.000002	T	0.30230	0.0758	L	0.28740	0.885	0.46586	D	0.999117	B	0.13594	0.008	B	0.08055	0.003	T	0.06391	-1.0829	10	0.27785	T	0.31	-12.9771	11.6226	0.51126	0.3231:0.6769:0.0:0.0	.	503	O94776	MTA2_HUMAN	T	503;330;330	ENSP00000278823:A503T;ENSP00000431346:A330T;ENSP00000431797:A330T	ENSP00000278823:A503T	A	-	1	0	MTA2	62119095	0.741000	0.28217	0.367000	0.25926	0.171000	0.22731	1.270000	0.33086	1.361000	0.45981	0.655000	0.94253	GCC		0.527	MTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395578.1	NM_004739		4	205	0	0	0	1	0	4	205				
LRIG1	26018	broad.mit.edu	37	3	66457861	66457861	+	Silent	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:66457861C>G	ENST00000273261.3	-	8	1514	c.990G>C	c.(988-990)ctG>ctC	p.L330L	LRIG1_ENST00000496559.2_5'Flank|LRIG1_ENST00000383703.3_Silent_p.L330L	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	330					innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TCAGGCTGCTCAGCTCGGCCA	0.597																																						ENST00000383703.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42						c.(988-990)ctG>ctC		leucine-rich repeats and immunoglobulin-like domains 1							79.0	65.0	69.0					3																	66457861		2203	4300	6503	SO:0001819	synonymous_variant	26018					integral to membrane		g.chr3:66457861C>G	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.990G>C	3.37:g.66457861C>G						LRIG1_ENST00000273261.3_Silent_p.L330L	p.L330L			Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	8	1593	-		Lung NSC(201;0.0101)	330					Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Silent	SNP	ENST00000273261.3	37	c.990G>C	CCDS33783.1																																																																																				0.597	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		14	36	0	0	0	1	0	14	36				
IL1RAPL1	11141	broad.mit.edu	37	X	29301228	29301228	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:29301228G>C	ENST00000378993.1	+	3	929	c.256G>C	c.(256-258)Gaa>Caa	p.E86Q	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.E86Q	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	86	Ig-like C2-type 1.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TGGAGACTTTGAAGAGCCAAT	0.448																																						ENST00000378993.1																			0				biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(256-258)Gaa>Caa		interleukin 1 receptor accessory protein-like 1							131.0	111.0	118.0					X																	29301228		2202	4300	6502	SO:0001583	missense	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:29301228G>C	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.256G>C	X.37:g.29301228G>C	ENSP00000368278:p.Glu86Gln					IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.E86Q	p.E86Q	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN			3	929	+			86			Ig-like C2-type 1.		A0AVG4|Q9UJ53	Missense_Mutation	SNP	ENST00000378993.1	37	c.256G>C	CCDS14218.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.327520	0.81690	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	T;T	0.77620	-1.11;-1.11	5.81	5.81	0.92471	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.87633	0.6226	M	0.72118	2.19	0.49213	D	0.999765	D	0.89917	1.0	D	0.87578	0.998	D	0.87186	0.2231	10	0.46703	T	0.11	.	17.9294	0.88992	0.0:0.0:1.0:0.0	.	86	Q9NZN1	IRPL1_HUMAN	Q	86	ENSP00000368278:E86Q;ENSP00000305200:E86Q	ENSP00000305200:E86Q	E	+	1	0	IL1RAPL1	29211149	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.454000	0.82982	0.600000	0.82982	GAA		0.448	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		22	75	0	0	0	1	0	22	75				
CHST12	55501	broad.mit.edu	37	7	2472855	2472855	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr7:2472855C>T	ENST00000258711.6	+	2	716	c.581C>T	c.(580-582)gCg>gTg	p.A194V		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	194					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|chondroitin 4-sulfotransferase activity (GO:0047756)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		CACCGCGGTGCGCCCTACCGC	0.677																																						ENST00000258711.6																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(580-582)gCg>gTg		carbohydrate (chondroitin 4) sulfotransferase 12							50.0	42.0	45.0					7																	2472855		2203	4299	6502	SO:0001583	missense	55501				dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding	g.chr7:2472855C>T	AF239822	CCDS5333.1	7p22	2007-03-14			ENSG00000136213	ENSG00000136213	2.8.2.5	"""Sulfotransferases, membrane-bound"""	17423	protein-coding gene	gene with protein product		610129				10781601	Standard	NM_018641		Approved	C4S-2, C4ST2	uc021zyu.1	Q9NRB3	OTTHUMG00000023849	ENST00000258711.6:c.581C>T	7.37:g.2472855C>T	ENSP00000258711:p.Ala194Val						p.A194V	NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)	2	716	+		Ovarian(82;0.0253)	194					A4D1Z9|Q502W3|Q9NXY7	Missense_Mutation	SNP	ENST00000258711.6	37	c.581C>T	CCDS5333.1	.	.	.	.	.	.	.	.	.	.	C	1.476	-0.558479	0.03967	.	.	ENSG00000136213	ENST00000258711;ENST00000432336	T;T	0.73789	-0.78;-0.78	5.23	-3.91	0.04168	.	0.518085	0.19731	N	0.107357	T	0.44623	0.1302	N	0.10664	0.02	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.29088	-1.0023	10	0.21540	T	0.41	-8.1155	6.4668	0.21985	0.0:0.3357:0.2274:0.4368	.	194	Q9NRB3	CHSTC_HUMAN	V	194	ENSP00000258711:A194V;ENSP00000411207:A194V	ENSP00000258711:A194V	A	+	2	0	CHST12	2439381	0.000000	0.05858	0.001000	0.08648	0.423000	0.31445	-0.120000	0.10660	-0.693000	0.05121	-1.332000	0.01269	GCG		0.677	CHST12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060170.3	NM_018641		30	67	0	0	0	1	0	30	67				
RBAK	57786	broad.mit.edu	37	7	5104433	5104433	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr7:5104433G>C	ENST00000353796.3	+	6	1670	c.1346G>C	c.(1345-1347)aGa>aCa	p.R449T	RBAK-RBAKDN_ENST00000396904.2_Intron|RBAK_ENST00000396912.1_Missense_Mutation_p.R449T|RBAK-RBAKDN_ENST00000407184.1_Intron	NM_001204456.1	NP_001191385.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	449	Interaction with AR.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		ATACATTATAGAAGTCATTTA	0.398																																						ENST00000396912.1																			0				NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10						c.(1345-1347)aGa>aCa		RB-associated KRAB zinc finger							51.0	52.0	52.0					7																	5104433		2203	4299	6502	SO:0001583	missense	57786				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr7:5104433G>C	AF226869	CCDS5337.1	7p22.1	2013-01-08			ENSG00000146587	ENSG00000146587		"""Zinc fingers, C2H2-type"", ""-"""	17680	protein-coding gene	gene with protein product		608191					Standard	NM_021163		Approved	ZNF769	uc003sns.1	Q9NYW8	OTTHUMG00000121155	ENST00000353796.3:c.1346G>C	7.37:g.5104433G>C	ENSP00000275423:p.Arg449Thr					RBAK_ENST00000396904.2_Intron|RBAK_ENST00000353796.3_Missense_Mutation_p.R449T|RBAK_ENST00000407184.1_Intron	p.R449T	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)	5	1865	+		Ovarian(82;0.0175)	449			Interaction with AR.		A6NDF2|A8KAK4|B2RN44|B9EGS1|F8W6M7	Missense_Mutation	SNP	ENST00000353796.3	37	c.1346G>C	CCDS5337.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.859721	0.51376	.	.	ENSG00000146587	ENST00000353796;ENST00000396912	T;T	0.25414	1.8;1.8	3.76	3.76	0.43208	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000116	T	0.45975	0.1369	M	0.76002	2.32	0.35769	D	0.820763	D	0.58620	0.983	D	0.75020	0.985	T	0.58098	-0.7696	8	.	.	.	.	8.8676	0.35296	0.0:0.0:0.7766:0.2234	.	449	Q9NYW8	RBAK_HUMAN	T	449	ENSP00000275423:R449T;ENSP00000380120:R449T	.	R	+	2	0	RBAK	5070959	0.101000	0.21875	0.931000	0.37212	0.986000	0.74619	2.491000	0.45303	2.386000	0.81285	0.555000	0.69702	AGA		0.398	RBAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241640.2	NM_021163		19	50	0	0	0	1	0	19	50				
ABCB1	5243	broad.mit.edu	37	7	87178750	87178750	+	Missense_Mutation	SNP	G	G	A	rs199852575		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr7:87178750G>A	ENST00000265724.3	-	15	2056	c.1639C>T	c.(1639-1641)Cgc>Tgc	p.R547C	ABCB1_ENST00000543898.1_Missense_Mutation_p.R483C	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	547	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	TTGGGGTTGCGAACCAGGGCA	0.562																																						ENST00000265724.3																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111						c.(1639-1641)Cgc>Tgc		ATP-binding cassette, sub-family B (MDR/TAP), member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						132.0	111.0	118.0					7																	87178750		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87178750G>A	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.1639C>T	7.37:g.87178750G>A	ENSP00000265724:p.Arg547Cys					ABCB1_ENST00000543898.1_Missense_Mutation_p.R483C	p.R547C	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN			15	2056	-	Esophageal squamous(14;0.00164)		547			ABC transporter 1.		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.1639C>T	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	G	31	5.095351	0.94197	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.85556	-2.0;-2.0	5.8	5.8	0.92144	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.92130	0.7505	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	D	0.92183	0.5753	10	0.87932	D	0	-10.1557	20.051	0.97627	0.0:0.0:1.0:0.0	.	483;547	B5AK60;P08183	.;MDR1_HUMAN	C	328;547;483	ENSP00000265724:R547C;ENSP00000444095:R483C	ENSP00000265724:R547C	R	-	1	0	ABCB1	87016686	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.755000	0.74914	2.740000	0.93945	0.650000	0.86243	CGC		0.562	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		34	63	0	0	0	1	0	34	63				
SCARF1	8578	broad.mit.edu	37	17	1549896	1549896	+	5'Flank	SNP	C	C	T	rs75242198	byFrequency	TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:1549896C>T	ENST00000263071.4	-	0	0				SCARF1_ENST00000574545.1_5'Flank|SCARF1_ENST00000571272.1_5'Flank|RILP_ENST00000301336.6_Missense_Mutation_p.R349Q|SCARF1_ENST00000348987.3_5'Flank	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1						cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AGCTTTACCCCGATACCATAG	0.577													c|||	23	0.00459265	0.0166	0.0014	5008	,	,		19522	0.0		0.0	False		,,,				2504	0.0					ENST00000301336.6																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)	15						c.(1045-1047)cGg>cAg		Rab interacting lysosomal protein		C	GLN/ARG	54,4352	52.3+/-87.9	0,54,2149	113.0	102.0	106.0		1046	-1.9	0.0	17	dbSNP_131	106	2,8598	2.2+/-6.3	0,2,4298	yes	missense	RILP	NM_031430.2	43	0,56,6447	TT,TC,CC		0.0233,1.2256,0.4306	benign	349/402	1549896	56,12950	2203	4300	6503	SO:0001631	upstream_gene_variant	83547				endosome to lysosome transport|protein transport	late endosome membrane|lysosomal membrane|phagocytic vesicle membrane	Rab GTPase binding	g.chr17:1549896C>T	D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"""scavenger receptor expressed by endothelial cells"", ""acetyl LDL receptor"""	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555		17.37:g.1549896C>T	Exception_encountered						p.R349Q	NM_031430.2	NP_113618.2	Q96NA2	RILP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	8	1318	-			349					A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Missense_Mutation	SNP	ENST00000263071.4	37	c.1046G>A	CCDS11007.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	11.32	1.604220	0.28534	0.012256	2.33E-4	ENSG00000167705	ENST00000301336	T	0.35605	1.3	5.12	-1.86	0.07760	.	0.611227	0.14376	N	0.323495	T	0.13415	0.0325	N	0.14661	0.345	0.20403	N	0.999909	B	0.13145	0.007	B	0.06405	0.002	T	0.12889	-1.0530	10	0.34782	T	0.22	-2.9716	10.1665	0.42884	0.0:0.4606:0.0:0.5394	.	349	Q96NA2	RILP_HUMAN	Q	349	ENSP00000301336:R349Q	ENSP00000301336:R349Q	R	-	2	0	RILP	1496646	0.000000	0.05858	0.008000	0.14137	0.008000	0.06430	-0.763000	0.04740	-0.587000	0.05890	-0.975000	0.02590	CGG		0.577	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207081.4	NM_003693		35	81	0	0	0	1	0	35	81				
ZNF654	55279	broad.mit.edu	37	3	88188595	88188595	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:88188595G>C	ENST00000309495.5	+	1	342	c.135G>C	c.(133-135)aaG>aaC	p.K45N	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	45					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		AGCATTTGAAGAATCATGTTA	0.393																																						ENST00000309495.5																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12						c.(133-135)aaG>aaC		zinc finger protein 654							91.0	91.0	91.0					3																	88188595		1887	4116	6003	SO:0001583	missense	55279				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:88188595G>C	AF543494	CCDS46874.1	3p11.1	2005-01-10			ENSG00000175105	ENSG00000175105			25612	protein-coding gene	gene with protein product							Standard	NM_018293		Approved	FLJ10997, FLJ21142	uc003dqv.3	Q8IZM8	OTTHUMG00000159097	ENST00000309495.5:c.135G>C	3.37:g.88188595G>C	ENSP00000312141:p.Lys45Asn					CGGBP1_ENST00000462901.1_Intron	p.K45N	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)	1	342	+		Lung NSC(201;0.0283)	45					Q9H791|Q9NV14	Missense_Mutation	SNP	ENST00000309495.5	37	c.135G>C	CCDS46874.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.053791	0.36277	.	.	ENSG00000175105	ENST00000309495	T	0.53857	0.6	5.65	0.539	0.17156	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.321606	0.31636	N	0.007313	T	0.54013	0.1832	M	0.67517	2.055	0.26147	N	0.980192	D	0.53312	0.959	P	0.50109	0.631	T	0.51060	-0.8753	10	0.46703	T	0.11	.	8.87	0.35309	0.4067:0.0:0.5933:0.0	.	45	Q8IZM8	ZN654_HUMAN	N	45	ENSP00000312141:K45N	ENSP00000312141:K45N	K	+	3	2	ZNF654	88271285	0.905000	0.30787	0.994000	0.49952	0.993000	0.82548	0.230000	0.17852	-0.187000	0.10516	0.549000	0.68633	AAG		0.393	ZNF654-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353285.2	NM_018293		14	33	0	0	0	1	0	14	33				
FAM9C	171484	broad.mit.edu	37	X	13061274	13061274	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:13061274G>C	ENST00000333995.3	-	3	285	c.155C>G	c.(154-156)tCt>tGt	p.S52C	FAM9C_ENST00000380625.3_Missense_Mutation_p.S52C|FAM9C_ENST00000542843.1_Missense_Mutation_p.S52C			Q8IZT9	FAM9C_HUMAN	family with sequence similarity 9, member C	52						nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						TTCAGCAAAAGATCCTCTTTC	0.423																																						ENST00000542843.1																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						c.(154-156)tCt>tGt		family with sequence similarity 9, member C							227.0	173.0	191.0					X																	13061274		2203	4300	6503	SO:0001583	missense	171484					nucleus		g.chrX:13061274G>C		CCDS35203.1	Xp22.32	2013-03-14			ENSG00000187268	ENSG00000187268			18405	protein-coding gene	gene with protein product	"""testis expressed 39C"""	300479					Standard	NM_174901		Approved	TEX39C	uc004cvh.2	Q8IZT9	OTTHUMG00000021143	ENST00000333995.3:c.155C>G	X.37:g.13061274G>C	ENSP00000334430:p.Ser52Cys					FAM9C_ENST00000333995.3_Missense_Mutation_p.S52C|FAM9C_ENST00000380625.3_Missense_Mutation_p.S52C	p.S52C			Q8IZT9	FAM9C_HUMAN			3	365	-			52					B2R9G7|Q5HYJ6	Missense_Mutation	SNP	ENST00000333995.3	37	c.155C>G	CCDS35203.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.718|7.718	0.696560|0.696560	0.15106|0.15106	.|.	.|.	ENSG00000187268|ENSG00000187268	ENST00000438997|ENST00000542843;ENST00000380625;ENST00000333995	.|T;T;T	.|0.22945	.|1.93;1.93;1.93	0.118|0.118	0.118|0.118	0.14667|0.14667	.|.	.|.	.|.	.|.	.|.	T|T	0.11537|0.11537	0.0281|0.0281	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B	.|0.28713	.|0.22	.|B	.|0.25140	.|0.058	T|T	0.24584|0.24584	-1.0156|-1.0156	4|8	.|0.72032	.|D	.|0.01	.|.	.|.	.|.	.|.	.|.	.|52	.|Q8IZT9	.|FAM9C_HUMAN	V|C	12|52	.|ENSP00000439185:S52C;ENSP00000369999:S52C;ENSP00000334430:S52C	.|ENSP00000334430:S52C	L|S	-|-	1|2	0|0	FAM9C|FAM9C	12971195|12971195	0.167000|0.167000	0.22975|0.22975	0.004000|0.004000	0.12327|0.12327	0.006000|0.006000	0.05464|0.05464	1.081000|1.081000	0.30791|0.30791	0.179000|0.179000	0.19938|0.19938	0.181000|0.181000	0.17075|0.17075	CTT|TCT		0.423	FAM9C-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316476.1	NM_174901		43	166	0	0	0	1	0	43	166				
WARS	7453	broad.mit.edu	37	14	100820140	100820140	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr14:100820140C>G	ENST00000355338.2	-	6	1227	c.609G>C	c.(607-609)tgG>tgC	p.W203C	WARS_ENST00000358655.4_Missense_Mutation_p.W162C|WARS_ENST00000344102.5_Missense_Mutation_p.W162C|WARS_ENST00000557135.1_Missense_Mutation_p.W203C|WARS_ENST00000556645.1_Missense_Mutation_p.W162C|WARS_ENST00000392882.2_Missense_Mutation_p.W203C|WARS_ENST00000554084.1_5'UTR|RP11-638I2.8_ENST00000557226.1_RNA	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	203					angiogenesis (GO:0001525)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|regulation of angiogenesis (GO:0045765)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	TCAGGTCCTTCCACAGATACT	0.498																																						ENST00000355338.2																			0				breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(607-609)tgG>tgC		tryptophanyl-tRNA synthetase	L-Tryptophan(DB00150)						164.0	141.0	149.0					14																	100820140		2203	4300	6503	SO:0001583	missense	7453				angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity	g.chr14:100820140C>G	M61715	CCDS9960.1, CCDS9961.1	14q32.2	2014-03-19			ENSG00000140105	ENSG00000140105	6.1.1.2	"""Aminoacyl tRNA synthetases / Class I"""	12729	protein-coding gene	gene with protein product	"""tryptophan tRNA ligase 1, cytoplasmic"""	191050		IFI53		1537332, 1763065	Standard	NM_004184		Approved	IFP53	uc001yhl.1	P23381	OTTHUMG00000171572	ENST00000355338.2:c.609G>C	14.37:g.100820140C>G	ENSP00000347495:p.Trp203Cys					WARS_ENST00000344102.5_Missense_Mutation_p.W162C|WARS_ENST00000554084.1_5'UTR|RP11-638I2.8_ENST00000557226.1_RNA|WARS_ENST00000556645.1_Missense_Mutation_p.W162C|WARS_ENST00000557135.1_Missense_Mutation_p.W203C|WARS_ENST00000358655.4_Missense_Mutation_p.W162C|WARS_ENST00000392882.2_Missense_Mutation_p.W203C	p.W203C	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN			6	1227	-		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)	203					A6NGN1|A6NID3|P78535|Q502Y0|Q53XB6|Q9UDI5|Q9UDL3	Missense_Mutation	SNP	ENST00000355338.2	37	c.609G>C	CCDS9960.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.984366	0.93044	.	.	ENSG00000140105	ENST00000392882;ENST00000358655;ENST00000355338;ENST00000344102;ENST00000557135;ENST00000556645;ENST00000553395;ENST00000556504;ENST00000557722	T;T;T;T;T;T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59;-0.59;-0.59;-0.59;-0.59;-0.59	6.0	6.0	0.97389	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.87493	0.6191	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	D	0.88353	0.2982	10	0.72032	D	0.01	-5.8584	20.4949	0.99206	0.0:1.0:0.0:0.0	.	203	P23381	SYWC_HUMAN	C	203;162;203;162;203;162;162;162;203	ENSP00000376620:W203C;ENSP00000351481:W162C;ENSP00000347495:W203C;ENSP00000339485:W162C;ENSP00000451460:W203C;ENSP00000451887:W162C;ENSP00000451490:W162C;ENSP00000451251:W162C;ENSP00000450500:W203C	ENSP00000339485:W162C	W	-	3	0	WARS	99889893	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.734000	0.84928	2.848000	0.98002	0.655000	0.94253	TGG		0.498	WARS-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414236.1	NM_004184		15	71	0	0	0	1	0	15	71				
WIZ	58525	broad.mit.edu	37	19	15535124	15535124	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:15535124C>T	ENST00000389282.4	-	9	4879	c.4666G>A	c.(4666-4668)Gac>Aac	p.D1556N	WIZ_ENST00000263381.7_Missense_Mutation_p.D699N|WIZ_ENST00000599910.2_Missense_Mutation_p.D873N|WIZ_ENST00000599686.3_Missense_Mutation_p.D740N|WIZ_ENST00000545156.1_Missense_Mutation_p.D870N			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	1556					positive regulation of nuclear cell cycle DNA replication (GO:0010571)|protein heterotrimerization (GO:0070208)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						TGCTGTAGGTCATTGGTGTCC	0.657																																						ENST00000389282.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(4666-4668)Gac>Aac		widely interspaced zinc finger motifs							31.0	34.0	33.0					19																	15535124		1873	4095	5968	SO:0001583	missense	58525					nucleus	zinc ion binding	g.chr19:15535124C>T	AK091183	CCDS42516.1	19p13.12	2012-10-05	2007-01-18		ENSG00000011451	ENSG00000011451		"""Zinc fingers, C2H2-type"""	30917	protein-coding gene	gene with protein product			"""WIZ zinc finger"""			9795207, 12226707	Standard	NM_021241		Approved	ZNF803	uc002nbb.4	O95785		ENST00000389282.4:c.4666G>A	19.37:g.15535124C>T	ENSP00000373933:p.Asp1556Asn					WIZ_ENST00000599910.1_Missense_Mutation_p.D873N|WIZ_ENST00000545156.1_Missense_Mutation_p.D870N|WIZ_ENST00000263381.6_Missense_Mutation_p.D699N|WIZ_ENST00000599686.2_Missense_Mutation_p.D740N	p.D1556N			O95785	WIZ_HUMAN			9	4879	-			1556					B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	Missense_Mutation	SNP	ENST00000389282.4	37	c.4666G>A		.	.	.	.	.	.	.	.	.	.	C	17.63	3.436973	0.62955	.	.	ENSG00000011451	ENST00000389282;ENST00000263381;ENST00000416927;ENST00000545156	T	0.02916	4.11	5.15	5.15	0.70609	.	0.412689	0.24710	N	0.036237	T	0.04588	0.0125	N	0.19112	0.55	0.36544	D	0.871443	B;P;P	0.52061	0.079;0.95;0.501	B;P;B	0.49999	0.095;0.628;0.115	T	0.60219	-0.7306	10	0.31617	T	0.26	-21.7498	17.3912	0.87431	0.0:1.0:0.0:0.0	.	1556;699;740	O95785;O95785-2;B3KVH1	WIZ_HUMAN;.;.	N	1556;699;740;870	ENSP00000373933:D1556N	ENSP00000263381:D699N	D	-	1	0	WIZ	15396124	0.927000	0.31430	0.726000	0.30738	0.372000	0.29890	2.517000	0.45529	2.401000	0.81631	0.561000	0.74099	GAC		0.657	WIZ-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021241		22	38	0	0	0	1	0	22	38				
ADH1A	124	broad.mit.edu	37	4	100205590	100205590	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr4:100205590G>C	ENST00000209668.2	-	5	646	c.533C>G	c.(532-534)tCa>tGa	p.S178*	ADH1A_ENST00000511656.1_5'Flank|RP11-696N14.1_ENST00000500358.2_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	178					alcohol metabolic process (GO:0006066)|drug metabolic process (GO:0017144)|ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Ethanol(DB00898)|Fomepizole(DB01213)	ATAACCAGTTGAAAATCCACA	0.458																																						ENST00000209668.2																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25						c.(532-534)tCa>tGa		alcohol dehydrogenase 1A (class I), alpha polypeptide	Fomepizole(DB01213)|NADH(DB00157)						99.0	95.0	97.0					4																	100205590		2203	4300	6503	SO:0001587	stop_gained	124				ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding	g.chr4:100205590G>C	M12963	CCDS3648.1	4q23	2009-12-04			ENSG00000187758	ENSG00000187758	1.1.1.1	"""Alcohol dehydrogenases"""	249	protein-coding gene	gene with protein product		103700		ADH1		3006456	Standard	NM_000667		Approved		uc003hur.2	P07327	OTTHUMG00000131026	ENST00000209668.2:c.533C>G	4.37:g.100205590G>C	ENSP00000209668:p.Ser178*					RP11-696N14.1_ENST00000500358.2_RNA	p.S178*	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	5	646	-			178					A8K3E3|Q17R68	Nonsense_Mutation	SNP	ENST00000209668.2	37	c.533C>G	CCDS3648.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.965001	0.74131	.	.	ENSG00000187758	ENST00000209668	.	.	.	2.45	2.45	0.29901	.	0.306231	0.36268	N	0.002689	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-4.5952	13.2492	0.60041	0.0:0.0:1.0:0.0	.	.	.	.	X	178	.	ENSP00000209668:S178X	S	-	2	0	ADH1A	100424613	0.998000	0.40836	0.970000	0.41538	0.705000	0.40729	4.207000	0.58480	1.356000	0.45884	0.305000	0.20034	TCA		0.458	ADH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253669.1	NM_000667		28	71	0	0	0	1	0	28	71				
MROH9	80133	broad.mit.edu	37	1	170955749	170955749	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:170955749G>T	ENST00000367758.3	+	10	876	c.777G>T	c.(775-777)caG>caT	p.Q259H	MROH9_ENST00000367759.4_Missense_Mutation_p.Q259H	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	259																	ACTTTGTGCAGAGTCTCCTGA	0.453																																						ENST00000367759.4																			0											c.(775-777)caG>caT		maestro heat-like repeat family member 9							156.0	145.0	149.0					1																	170955749		2037	4207	6244	SO:0001583	missense	80133							g.chr1:170955749G>T	AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"""maestro heat-like repeat containing"""	26287	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 129"""	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.777G>T	1.37:g.170955749G>T	ENSP00000356732:p.Gln259His					MROH9_ENST00000367758.3_Missense_Mutation_p.Q259H	p.Q259H	NM_001163629.1	NP_001157101.1					10	931	+								A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Missense_Mutation	SNP	ENST00000367758.3	37	c.777G>T	CCDS41436.1	.	.	.	.	.	.	.	.	.	.	G	6.516	0.463370	0.12402	.	.	ENSG00000117501	ENST00000367759;ENST00000367758	T;T	0.68479	-0.33;1.39	5.9	4.91	0.64330	Armadillo-like helical (1);	0.511298	0.18580	N	0.137060	T	0.29882	0.0747	N	0.08118	0	0.09310	N	1	B;B	0.13145	0.007;0.007	B;B	0.06405	0.002;0.002	T	0.16364	-1.0405	10	0.51188	T	0.08	-1.9254	13.034	0.58859	0.0:0.0:0.8289:0.1711	.	259;259	F5GWX6;Q5TGP6	.;CA129_HUMAN	H	259	ENSP00000356733:Q259H;ENSP00000356732:Q259H	ENSP00000356732:Q259H	Q	+	3	2	C1orf129	169222373	0.824000	0.29247	0.974000	0.42286	0.016000	0.09150	1.861000	0.39438	2.788000	0.95919	0.650000	0.86243	CAG		0.453	MROH9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000099327.1	NM_025063		19	58	1	0	1.00905e-13	1	1.07353e-13	19	58				
NLRC4	58484	broad.mit.edu	37	2	32463255	32463255	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:32463255C>T	ENST00000404025.2	-	7	2955	c.2467G>A	c.(2467-2469)Gaa>Aaa	p.E823K	NLRC4_ENST00000360906.5_Missense_Mutation_p.E823K|NLRC4_ENST00000342905.6_Missense_Mutation_p.E158K|NLRC4_ENST00000402280.1_Missense_Mutation_p.E823K			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	823					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TGAATTTCTTCAAGGTCACAG	0.403																																						ENST00000404025.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16						c.(2467-2469)Gaa>Aaa		NLR family, CARD domain containing 4							169.0	162.0	164.0					2																	32463255		2203	4300	6503	SO:0001583	missense	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32463255C>T	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.2467G>A	2.37:g.32463255C>T	ENSP00000385090:p.Glu823Lys					NLRC4_ENST00000342905.6_Missense_Mutation_p.E158K|NLRC4_ENST00000402280.1_Missense_Mutation_p.E823K|NLRC4_ENST00000360906.5_Missense_Mutation_p.E823K	p.E823K			Q9NPP4	NLRC4_HUMAN			7	2955	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		823					A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	ENST00000404025.2	37	c.2467G>A	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	C	5.916	0.353130	0.11182	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000342905;ENST00000404025	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	3.99	2.08	0.27032	.	0.394689	0.18461	N	0.140538	T	0.21718	0.0523	N	0.08118	0	0.27084	N	0.963028	B;B	0.11235	0.004;0.003	B;B	0.12837	0.008;0.002	T	0.15694	-1.0428	9	0.19590	T	0.45	-7.6404	4.8719	0.13637	0.0:0.5237:0.3359:0.1404	.	158;823	Q9NPP4-2;Q9NPP4	.;NLRC4_HUMAN	K	823;823;158;823	ENSP00000354159:E823K;ENSP00000385428:E823K;ENSP00000339666:E158K;ENSP00000385090:E823K	ENSP00000339666:E158K	E	-	1	0	NLRC4	32316759	1.000000	0.71417	0.996000	0.52242	0.879000	0.50718	1.018000	0.30002	0.549000	0.28973	0.655000	0.94253	GAA		0.403	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		46	90	0	0	0	1	0	46	90				
TBX3	6926	broad.mit.edu	37	12	115120855	115120855	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:115120855C>T	ENST00000257566.3	-	1	540	c.151G>A	c.(151-153)Gcg>Acg	p.A51T	TBX3_ENST00000349155.2_Missense_Mutation_p.A51T	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	51					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		AGCGCCGCCGCGCCGTTGGGA	0.721																																						ENST00000349155.2																			0				breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(151-153)Gcg>Acg		T-box 3							15.0	17.0	17.0					12																	115120855		2139	4215	6354	SO:0001583	missense	6926				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding	g.chr12:115120855C>T	BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"""T-boxes"""	11602	protein-coding gene	gene with protein product		601621	"""ulnar mammary syndrome"""	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.151G>A	12.37:g.115120855C>T	ENSP00000257566:p.Ala51Thr					TBX3_ENST00000257566.3_Missense_Mutation_p.A51T	p.A51T	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0574)	1	1114	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		51					Q8TB20|Q9UKF8	Missense_Mutation	SNP	ENST00000257566.3	37	c.151G>A	CCDS9176.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.544489	0.86022	.	.	ENSG00000135111	ENST00000349155;ENST00000257566;ENST00000361100	D;D	0.87809	-2.3;-2.3	4.74	4.74	0.60224	.	0.052277	0.85682	D	0.000000	D	0.91526	0.7324	L	0.59436	1.845	0.45515	D	0.998472	P;D;P	0.89917	0.807;1.0;0.886	B;D;B	0.74674	0.071;0.984;0.146	D	0.91143	0.4947	10	0.41790	T	0.15	.	15.8946	0.79325	0.0:1.0:0.0:0.0	.	51;51;51	B4E3A6;O15119-2;O15119	.;.;TBX3_HUMAN	T	51	ENSP00000257567:A51T;ENSP00000257566:A51T	ENSP00000257566:A51T	A	-	1	0	TBX3	113605238	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.845000	0.62853	2.193000	0.70182	0.655000	0.94253	GCG		0.721	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2	NM_016569, NM_005996		14	58	0	0	0	1	0	14	58				
ZNF506	440515	broad.mit.edu	37	19	19905518	19905518	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:19905518C>G	ENST00000540806.2	-	4	1266	c.1178G>C	c.(1177-1179)gGa>gCa	p.G393A	ZNF506_ENST00000587461.1_Intron|CTC-559E9.6_ENST00000591884.1_RNA|ZNF506_ENST00000443905.2_Missense_Mutation_p.G393A|ZNF506_ENST00000450683.2_Missense_Mutation_p.G361A|CTC-559E9.4_ENST00000590274.1_lincRNA|CTC-559E9.6_ENST00000589657.1_RNA			Q5JVG8	ZN506_HUMAN	zinc finger protein 506	393					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						CGGTTTCTCTCCAGTATGAAT	0.378																																						ENST00000443905.2																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						c.(1177-1179)gGa>gCa		zinc finger protein 506							59.0	63.0	62.0					19																	19905518		2140	4270	6410	SO:0001583	missense	440515				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	g.chr19:19905518C>G	AK095575	CCDS42531.1, CCDS46027.1	19p13.11	2013-01-08				ENSG00000081665		"""Zinc fingers, C2H2-type"", ""-"""	23780	protein-coding gene	gene with protein product							Standard	NM_001099269		Approved	DKFZp761G1812	uc010eci.2	Q5JVG8		ENST00000540806.2:c.1178G>C	19.37:g.19905518C>G	ENSP00000440625:p.Gly393Ala					ZNF506_ENST00000587461.1_Intron|CTC-559E9.4_ENST00000590274.1_lincRNA|CTC-559E9.6_ENST00000591884.1_RNA|ZNF506_ENST00000540806.2_Missense_Mutation_p.G393A|ZNF506_ENST00000450683.2_Missense_Mutation_p.G361A|CTC-559E9.6_ENST00000589657.1_RNA	p.G393A			Q5JVG8	ZN506_HUMAN			4	1325	-			393					B3KTH6	Missense_Mutation	SNP	ENST00000540806.2	37	c.1178G>C	CCDS42531.1	.	.	.	.	.	.	.	.	.	.	c	13.75	2.331521	0.41297	.	.	ENSG00000081665	ENST00000443905;ENST00000540806;ENST00000450683	T;T;T	0.01505	4.82;4.82;4.82	1.01	1.01	0.19927	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05181	0.0138	M	0.77406	2.37	0.39396	D	0.966507	P;B	0.38978	0.652;0.346	P;B	0.48425	0.577;0.051	T	0.24657	-1.0154	9	0.66056	D	0.02	.	7.4069	0.26995	0.0:1.0:0.0:0.0	.	393;361	Q5JVG8;Q5JVG8-2	ZN506_HUMAN;.	A	393;393;361	ENSP00000393835:G393A;ENSP00000440625:G393A;ENSP00000408892:G361A	ENSP00000393835:G393A	G	-	2	0	ZNF506	19766518	0.150000	0.22732	0.040000	0.18447	0.038000	0.13279	1.455000	0.35190	0.430000	0.26230	0.430000	0.28490	GGA		0.378	ZNF506-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460794.1	XM_036218		20	55	0	0	0	1	0	20	55				
DACT1	51339	broad.mit.edu	37	14	59112454	59112454	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr14:59112454G>A	ENST00000335867.4	+	4	1137	c.1113G>A	c.(1111-1113)ctG>ctA	p.L371L	DACT1_ENST00000541264.2_Silent_p.L90L|DACT1_ENST00000556859.1_Silent_p.L90L|DACT1_ENST00000395153.3_Silent_p.L334L			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	371					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						AAGGGCTTCTGAGGAACGGGA	0.552																																						ENST00000395153.3																			0				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						c.(1000-1002)ctG>ctA		dishevelled-binding antagonist of beta-catenin 1							56.0	59.0	58.0					14																	59112454		2203	4300	6503	SO:0001819	synonymous_variant	51339				multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr14:59112454G>A	AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"""dapper homolog 1, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"""			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.1113G>A	14.37:g.59112454G>A						DACT1_ENST00000335867.4_Silent_p.L371L|DACT1_ENST00000541264.2_Silent_p.L90L|DACT1_ENST00000556859.1_Silent_p.L90L|DACT1_ENST00000395151.3_Silent_p.L90L	p.L334L	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN			4	1149	+			371					A8MYJ2|Q86TY0	Silent	SNP	ENST00000335867.4	37	c.1002G>A	CCDS9736.1																																																																																				0.552	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651		23	61	0	0	0	1	0	23	61				
TTC8	123016	broad.mit.edu	37	14	89327638	89327638	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr14:89327638G>C	ENST00000345383.5	+	9	925	c.841G>C	c.(841-843)Gaa>Caa	p.E281Q	TTC8_ENST00000358622.5_Missense_Mutation_p.E93Q|TTC8_ENST00000380656.2_Missense_Mutation_p.E291Q|TTC8_ENST00000338104.6_Missense_Mutation_p.E307Q|TTC8_ENST00000354441.6_Intron|TTC8_ENST00000346301.4_Missense_Mutation_p.E251Q|TTC8_ENST00000536576.1_Missense_Mutation_p.E52Q	NM_198309.2	NP_938051.1	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	317					axon guidance (GO:0007411)|camera-type eye photoreceptor cell differentiation (GO:0060219)|cilium assembly (GO:0042384)|establishment of anatomical structure orientation (GO:0048560)|fat cell differentiation (GO:0045444)|multicellular organism growth (GO:0035264)|nonmotile primary cilium assembly (GO:0035058)|olfactory bulb development (GO:0021772)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|renal tubule development (GO:0061326)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)	BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GTTTCCAGGAGAAGTAACCCT	0.299																																						ENST00000338104.6																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						c.(919-921)Gaa>Caa		tetratricopeptide repeat domain 8							89.0	86.0	87.0					14																	89327638		2203	4300	6503	SO:0001583	missense	123016				cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding	g.chr14:89327638G>C	AK093891	CCDS9885.1, CCDS9886.1, CCDS32137.1, CCDS73674.1, CCDS73675.1	14q31.3	2013-02-14				ENSG00000165533		"""Tetratricopeptide (TTC) repeat domain containing"""	20087	protein-coding gene	gene with protein product		608132				14520415, 20451172	Standard	NM_144596		Approved	BBS8, RP51	uc001xxi.3	Q8TAM2		ENST00000345383.5:c.841G>C	14.37:g.89327638G>C	ENSP00000339486:p.Glu281Gln					TTC8_ENST00000536576.1_Missense_Mutation_p.E52Q|TTC8_ENST00000380656.2_Missense_Mutation_p.E291Q|TTC8_ENST00000346301.4_Missense_Mutation_p.E251Q|TTC8_ENST00000354441.6_Intron|TTC8_ENST00000358622.5_Missense_Mutation_p.E93Q|TTC8_ENST00000345383.5_Missense_Mutation_p.E281Q	p.E307Q			Q8TAM2	TTC8_HUMAN			10	971	+			317					A6NFG2|B3KWA5|Q67B97|Q86SY0|Q86TV9|Q86U26|Q8NDH9|Q96DG8	Missense_Mutation	SNP	ENST00000345383.5	37	c.919G>C	CCDS9885.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	26.1|26.1|26.1	4.705483|4.705483|4.705483	0.89018|0.89018|0.89018	.|.|.	.|.|.	ENSG00000165533|ENSG00000165533|ENSG00000165533	ENST00000554686|ENST00000345383;ENST00000536576;ENST00000346301;ENST00000338104;ENST00000380656;ENST00000358622|ENST00000557580	.|T;T;T;T;T;T|.	.|0.53206|.	.|0.66;0.63;0.66;0.66;0.66;0.66|.	5.27|5.27|5.27	5.27|5.27|5.27	0.74061|0.74061|0.74061	.|Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);|.	0.000000|0.000000|.	0.85682|0.85682|.	D|D|.	0.000000|0.000000|.	T|T|T	0.81626|0.81626|0.81626	0.4862|0.4862|0.4862	M|M|M	0.81341|0.81341|0.81341	2.54|2.54|2.54	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;D;D;D|.	.|0.69078|.	.|0.992;0.997;0.997;0.996|.	.|D;D;D;D|.	.|0.75484|.	.|0.918;0.986;0.962;0.944|.	T|T|T	0.82178|0.82178|0.82178	-0.0586|-0.0586|-0.0586	6|10|5	.|0.66056|.	.|D|.	.|0.02|.	-23.3127|-23.3127|-23.3127	19.2477|19.2477|19.2477	0.93909|0.93909|0.93909	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|52;317;261;291|.	.|B3KSL8;Q8TAM2;Q8TAM2-3;Q8TAM2-4|.	.|.;TTC8_HUMAN;.;.|.	D|Q|T	240|281;52;251;307;291;93|79	.|ENSP00000339486:E281Q;ENSP00000445067:E52Q;ENSP00000298324:E251Q;ENSP00000337653:E307Q;ENSP00000370031:E291Q;ENSP00000351439:E93Q|.	.|ENSP00000337653:E307Q|.	E|E|R	+|+|+	3|1|2	2|0|0	TTC8|TTC8|TTC8	88397391|88397391|88397391	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.994000|0.994000|0.994000	0.84299|0.84299|0.84299	9.046000|9.046000|9.046000	0.93817|0.93817|0.93817	2.628000|2.628000|2.628000	0.89032|0.89032|0.89032	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAG|GAA|AGA		0.299	TTC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410861.1	NM_144596		22	35	0	0	0	1	0	22	35				
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron			O14520	AQP7_HUMAN	aquaporin 7	0					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632																																						ENST00000541274.1																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(379-381)agT>agA		aquaporin 7							36.0	43.0	41.0					9																	33385614		2199	4296	6495	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33385614A>T	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000541274.1:c.381T>A	9.37:g.33385614A>T	ENSP00000438860:p.Ser127Arg					AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron	p.S127R			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	5	830	-			0					Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000541274.1	37	c.381T>A		.	.	.	.	.	.	.	.	.	.	a	7.886	0.731251	0.15507	.	.	ENSG00000165269	ENST00000541274	T	0.54479	0.57	3.27	-5.32	0.02722	.	.	.	.	.	T	0.32164	0.0820	.	.	.	0.09310	N	1	B	0.21905	0.062	B	0.16289	0.015	T	0.25710	-1.0124	8	0.87932	D	0	.	2.0158	0.03497	0.1768:0.1404:0.4062:0.2767	.	127	B7Z7F6	.	R	127	ENSP00000438860:S127R	ENSP00000438860:S127R	S	-	3	2	AQP7	33375614	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.696000	0.05104	-1.265000	0.02449	0.449000	0.29647	AGT		0.632	AQP7-204	KNOWN	basic	protein_coding	protein_coding		NM_001170		6	146	0	0	0	1	0	6	146				
REL	5966	broad.mit.edu	37	2	61149497	61149497	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:61149497G>C	ENST00000295025.8	+	11	2007	c.1687G>C	c.(1687-1689)Gag>Cag	p.E563Q	REL_ENST00000394479.3_Missense_Mutation_p.E531Q	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	563					cytokine production (GO:0001816)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of neuron death (GO:1901215)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			AGATGCATTTGAGGGATCTGA	0.423			A		Hodgkin Lymphoma																																	ENST00000295025.7				Dom	yes		2	2p13-p12	5966	A	v-rel reticuloendotheliosis viral oncogene homolog (avian)			L			Hodgkin Lymphoma		0				breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16						c.(1687-1689)Gag>Cag		v-rel avian reticuloendotheliosis viral oncogene homolog							108.0	106.0	106.0					2																	61149497		2203	4300	6503	SO:0001583	missense	5966				positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr2:61149497G>C	M11595	CCDS1864.1, CCDS74515.1	2p13-p12	2013-07-09	2013-07-09		ENSG00000162924	ENSG00000162924			9954	protein-coding gene	gene with protein product		164910				1577270	Standard	XM_005264470		Approved	I-Rel, c-Rel	uc002sam.1	Q04864	OTTHUMG00000129418	ENST00000295025.8:c.1687G>C	2.37:g.61149497G>C	ENSP00000295025:p.Glu563Gln					REL_ENST00000394479.3_Missense_Mutation_p.E531Q	p.E563Q	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)		11	2007	+	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	563					Q17RU2|Q2PNZ7|Q6LDY0	Missense_Mutation	SNP	ENST00000295025.8	37	c.1687G>C	CCDS1864.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.535035	0.45073	.	.	ENSG00000162924	ENST00000295025;ENST00000394479	T;T	0.50277	0.77;0.75	5.74	3.89	0.44902	.	0.678670	0.14967	N	0.288040	T	0.32102	0.0818	N	0.24115	0.695	0.25325	N	0.989082	B;B	0.14805	0.006;0.011	B;B	0.10450	0.003;0.005	T	0.18272	-1.0342	10	0.29301	T	0.29	-13.7052	9.1535	0.36978	0.0785:0.1459:0.7756:0.0	.	531;563	Q17RU2;Q04864	.;REL_HUMAN	Q	563;531	ENSP00000295025:E563Q;ENSP00000377989:E531Q	ENSP00000295025:E563Q	E	+	1	0	REL	61003001	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.531000	0.36018	0.732000	0.32470	0.650000	0.86243	GAG		0.423	REL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251576.3	NM_002908		38	78	0	0	0	1	0	38	78				
LY75	4065	broad.mit.edu	37	2	160709782	160709782	+	Splice_Site	SNP	A	A	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:160709782A>G	ENST00000263636.4	-	20	2771		c.e20+1		LY75_ENST00000554112.1_Splice_Site|LY75_ENST00000553424.1_Splice_Site|LY75-CD302_ENST00000504764.1_Splice_Site|LY75-CD302_ENST00000505052.1_Splice_Site	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75						endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		AATTAACTTTACCGATAAGCC	0.353																																						ENST00000263636.4																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59						c.e20+1		lymphocyte antigen 75							79.0	80.0	80.0					2																	160709782		2203	4300	6503	SO:0001630	splice_region_variant	4065							g.chr2:160709782A>G	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"""CD molecules"", ""C-type lectin domain containing"""	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.2743+1T>C	2.37:g.160709782A>G						LY75_ENST00000554112.1_Splice_Site|LY75_ENST00000553424.1_Splice_Site|LY75-CD302_ENST00000505052.1_Splice_Site|LY75-CD302_ENST00000504764.1_Splice_Site		NM_002349.3	NP_002340.2				COAD - Colon adenocarcinoma(177;0.132)	20	2771	-								O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Splice_Site	SNP	ENST00000263636.4	37		CCDS2211.1	.	.	.	.	.	.	.	.	.	.	A	19.19	3.780537	0.70222	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	.	.	.	4.78	4.78	0.61160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.8837	0.46955	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LY75;LY75-CD302	160418028	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	3.953000	0.56699	2.136000	0.66102	0.459000	0.35465	.		0.353	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1		Intron	16	47	0	0	0	1	0	16	47				
FBXL8	55336	broad.mit.edu	37	16	67197675	67197675	+	Silent	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr16:67197675C>G	ENST00000258200.3	+	3	1254	c.1077C>G	c.(1075-1077)ctC>ctG	p.L359L	HSF4_ENST00000521374.1_5'Flank|HSF4_ENST00000264009.8_5'UTR|HSF4_ENST00000584272.1_5'Flank|FBXL8_ENST00000519917.1_Silent_p.L359L|HSF4_ENST00000421453.1_5'UTR|RP11-5A19.5_ENST00000518227.1_Nonsense_Mutation_p.S22*			Q96CD0	FBXL8_HUMAN	F-box and leucine-rich repeat protein 8	359										endometrium(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0144)|Epithelial(162;0.0338)|all cancers(182;0.185)		CCTATACCCTCAAGCTCACGC	0.682																																						ENST00000580114.1																			0											c.(388-390)Caa>Gaa									18.0	20.0	19.0					16																	67197675		2184	4283	6467	SO:0001819	synonymous_variant	0							g.chr16:67197675C>G	AK002140	CCDS10831.1	16q22.1-q22.3	2013-01-22			ENSG00000135722	ENSG00000135722		"""F-boxes / Leucine-rich repeats"""	17875	protein-coding gene	gene with protein product		609077					Standard	NM_018378		Approved	Fbl8	uc002erk.1	Q96CD0	OTTHUMG00000137514	ENST00000258200.3:c.1077C>G	16.37:g.67197675C>G						RP11-5A19.5_ENST00000518753.1_3'UTR|FBXL8_ENST00000519917.1_Silent_p.L359L|HSF4_ENST00000264009.8_5'UTR|HSF4_ENST00000421453.1_5'UTR|FBXL8_ENST00000258200.3_Silent_p.L359L	p.Q130E							1	388	+								Q9NUM0	Missense_Mutation	SNP	ENST00000258200.3	37	c.388C>G	CCDS10831.1																																																																																				0.682	FBXL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268834.2			17	36	0	0	0	1	0	17	36				
TMEM132E	124842	broad.mit.edu	37	17	32956042	32956042	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:32956042G>T	ENST00000321639.5	+	5	1215	c.887G>T	c.(886-888)gGc>gTc	p.G296V		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	296						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GAGGGCCAGGGCCCCTTGGAG	0.612																																						ENST00000321639.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57						c.(886-888)gGc>gTc		transmembrane protein 132E							74.0	77.0	76.0					17																	32956042		2203	4300	6503	SO:0001583	missense	124842					integral to membrane		g.chr17:32956042G>T	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.887G>T	17.37:g.32956042G>T	ENSP00000316532:p.Gly296Val						p.G296V	NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	5	1215	+			296					Q8WUF4|Q8WVA5	Missense_Mutation	SNP	ENST00000321639.5	37	c.887G>T	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	g	6.589	0.476997	0.12521	.	.	ENSG00000181291	ENST00000321639	T	0.18502	2.21	4.51	2.43	0.29744	.	0.634660	0.15927	N	0.237846	T	0.12987	0.0315	L	0.47016	1.485	0.43126	D	0.99485	B	0.06786	0.001	B	0.12156	0.007	T	0.09952	-1.0651	10	0.34782	T	0.22	-15.2527	3.5909	0.07989	0.0936:0.279:0.4815:0.1459	.	296	Q6IEE7	T132E_HUMAN	V	296	ENSP00000316532:G296V	ENSP00000316532:G296V	G	+	2	0	TMEM132E	29980155	0.997000	0.39634	0.614000	0.29051	0.034000	0.12701	2.443000	0.44881	0.594000	0.29761	0.447000	0.29281	GGC		0.612	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		32	107	1	0	6.53348e-20	1	7.0981e-20	32	107				
PTPRH	5794	broad.mit.edu	37	19	55715379	55715379	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:55715379C>G	ENST00000376350.3	-	5	679	c.657G>C	c.(655-657)caG>caC	p.Q219H	PTPRH_ENST00000263434.5_Intron|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	219	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		AGCTGGTGGTCTGAGCCTCCA	0.547																																						ENST00000376350.3																			0				breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67						c.(655-657)caG>caC		protein tyrosine phosphatase, receptor type, H							81.0	68.0	72.0					19																	55715379		2203	4300	6503	SO:0001583	missense	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55715379C>G		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.657G>C	19.37:g.55715379C>G	ENSP00000365528:p.Gln219His					PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Intron	p.Q219H	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	5	679	-		Renal(1328;0.245)	219			Fibronectin type-III 3.		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	c.657G>C	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.762552	0.31228	.	.	ENSG00000080031	ENST00000376350	T	0.57907	0.37	3.44	1.05	0.20165	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.292176	0.18615	N	0.136048	T	0.63803	0.2542	M	0.77616	2.38	0.19775	N	0.999956	D;D	0.69078	0.997;0.997	D;D	0.74674	0.923;0.984	T	0.55192	-0.8179	10	0.14252	T	0.57	.	6.8855	0.24197	0.0:0.7527:0.0:0.2473	.	41;219	Q9HD43-2;Q9HD43	.;PTPRH_HUMAN	H	219	ENSP00000365528:Q219H	ENSP00000365528:Q219H	Q	-	3	2	PTPRH	60407191	0.001000	0.12720	0.002000	0.10522	0.014000	0.08584	-0.148000	0.10219	0.195000	0.20347	0.505000	0.49811	CAG		0.547	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			22	78	0	0	0	1	0	22	78				
GPC3	2719	broad.mit.edu	37	X	132887678	132887678	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:132887678C>A	ENST00000370818.3	-	3	1308	c.863G>T	c.(862-864)gGt>gTt	p.G288V	GPC3_ENST00000543339.1_Missense_Mutation_p.G234V|GPC3_ENST00000394299.2_Missense_Mutation_p.G288V	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	288					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|body morphogenesis (GO:0010171)|bone mineralization (GO:0030282)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cell proliferation involved in metanephros development (GO:0072203)|chondroitin sulfate metabolic process (GO:0030204)|coronary vasculature development (GO:0060976)|embryonic hindlimb morphogenesis (GO:0035116)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lung development (GO:0030324)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesonephric duct morphogenesis (GO:0072180)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of growth (GO:0045926)|negative regulation of smoothened signaling pathway (GO:0045879)|osteoclast differentiation (GO:0030316)|phototransduction, visible light (GO:0007603)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endocytosis (GO:0045807)|positive regulation of glucose import (GO:0046326)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	peptidyl-dipeptidase inhibitor activity (GO:0060422)			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					CTCCACCACACCTGCCATACA	0.468			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome																													ENST00000370818.3			yes	Rec/X		Simpson-Golabi-Behmel syndrome	X	Xq26.1	2719	"""T, D, Mis, N, F, S"""	glypican 3			O		Wilms tumour			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36						c.(862-864)gGt>gTt		glypican 3							593.0	381.0	453.0					X																	132887678		2203	4300	6503	SO:0001583	missense	2719	Simpson-Golabi-Behmel syndrome	Familial Cancer Database	SGBS		extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity	g.chrX:132887678C>A	L47125	CCDS14638.1, CCDS55496.1	Xq26	2014-09-17			ENSG00000147257	ENSG00000147257		"""Proteoglycans / Cell Surface : Glypicans"""	4451	protein-coding gene	gene with protein product	"""glypican proteoglycan 3"""	300037		SDYS		8589713, 9787072	Standard	NM_004484		Approved	OCI-5, SGBS, SGBS1, SGB, DGSX	uc010nrn.2	P51654	OTTHUMG00000022448	ENST00000370818.3:c.863G>T	X.37:g.132887678C>A	ENSP00000359854:p.Gly288Val					GPC3_ENST00000394299.2_Missense_Mutation_p.G288V|GPC3_ENST00000543339.1_Missense_Mutation_p.G234V	p.G288V	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN			3	1308	-	Acute lymphoblastic leukemia(192;0.000127)		288					C9JLE3|G3V1R0|Q2L880|Q2L882	Missense_Mutation	SNP	ENST00000370818.3	37	c.863G>T	CCDS14638.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.07|15.07	2.724887|2.724887	0.48833|0.48833	.|.	.|.	ENSG00000147257|ENSG00000147257	ENST00000370818;ENST00000394299;ENST00000543339|ENST00000406757	T;T;T|.	0.51071|.	0.72;0.72;0.72|.	5.96|5.96	5.1|5.1	0.69264|0.69264	.|.	0.148053|.	0.64402|.	D|.	0.000010|.	T|T	0.59500|0.59500	0.2198|0.2198	L|L	0.42245|0.42245	1.32|1.32	0.50467|0.50467	D|D	0.999873|0.999873	P;P;P;P|.	0.41188|.	0.741;0.696;0.578;0.741|.	P;P;P;P|.	0.48141|.	0.449;0.516;0.449;0.568|.	T|T	0.55679|0.55679	-0.8103|-0.8103	10|5	0.72032|.	D|.	0.01|.	.|.	13.6101|13.6101	0.62074|0.62074	0.0:0.923:0.0:0.077|0.0:0.923:0.0:0.077	.|.	272;234;288;288|.	B4DTD8;G3V1R0;C9JLE3;P51654|.	.;.;.;GPC3_HUMAN|.	V|L	288;288;234|18	ENSP00000359854:G288V;ENSP00000377836:G288V;ENSP00000444222:G234V|.	ENSP00000359854:G288V|.	G|V	-|-	2|1	0|0	GPC3|GPC3	132715344|132715344	0.205000|0.205000	0.23458|0.23458	0.872000|0.872000	0.34217|0.34217	0.998000|0.998000	0.95712|0.95712	2.415000|2.415000	0.44635|0.44635	2.523000|2.523000	0.85059|0.85059	0.594000|0.594000	0.82650|0.82650	GGT|GTG		0.468	GPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058356.1	NM_004484		9	171	1	0	1.76689e-08	1	1.83852e-08	9	171				
MED29	55588	broad.mit.edu	37	19	39882005	39882005	+	5'Flank	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:39882005G>A	ENST00000599213.2	+	0	0				PAF1_ENST00000221266.7_5'Flank|MED29_ENST00000315588.5_Silent_p.L2L|PAF1_ENST00000595564.1_5'Flank|MED29_ENST00000594368.1_5'Flank|PAF1_ENST00000221265.3_5'Flank			Q9NX70	MED29_HUMAN	mediator complex subunit 29						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleus (GO:0005634)				lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TAGGGATGCTGAAAAGCAACG	0.572																																						ENST00000315588.5																			0				lung(2)|ovary(1)|pancreas(1)	4						c.(4-6)ctG>ctA		mediator complex subunit 29							35.0	33.0	34.0					19																	39882005		2203	4300	6503	SO:0001631	upstream_gene_variant	55588				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding	g.chr19:39882005G>A	AL137304, AY729650	CCDS33021.1	19q13.2	2007-07-30	2007-07-30	2007-07-30		ENSG00000063322			23074	protein-coding gene	gene with protein product		612914	"""intersex-like (Drosophila)"""	IXL		15555573	Standard	NM_017592		Approved	DKFZp434H247	uc010xux.3	Q9NX70			19.37:g.39882005G>A	Exception_encountered						p.L2L	NM_017592.1	NP_060062.1	Q9NX70	MED29_HUMAN	Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		1	55	+	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		0					B4DNQ6|M0R2E4|Q5XX09|Q9NTF4	Silent	SNP	ENST00000599213.2	37	c.6G>A																																																																																					0.572	MED29-011	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470870.1	XM_290829		9	28	0	0	0	1	0	9	28				
CAND1	55832	broad.mit.edu	37	12	67696303	67696303	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:67696303C>A	ENST00000545606.1	+	8	1638	c.1201C>A	c.(1201-1203)Ctt>Att	p.L401I		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	401					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		ATACCTTTCTCTTTTGAAGCA	0.433																																						ENST00000545606.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35						c.(1201-1203)Ctt>Att		cullin-associated and neddylation-dissociated 1							175.0	148.0	157.0					12																	67696303		2203	4300	6503	SO:0001583	missense	55832				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding	g.chr12:67696303C>A		CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"""TBP interacting protein"""	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.1201C>A	12.37:g.67696303C>A	ENSP00000442318:p.Leu401Ile						p.L401I	NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)	8	1638	+			401					B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP	ENST00000545606.1	37	c.1201C>A	CCDS8977.1	.	.	.	.	.	.	.	.	.	.	C	33	5.274972	0.95459	.	.	ENSG00000111530	ENST00000545606;ENST00000299218;ENST00000540047;ENST00000544619	T;T	0.69040	-0.37;-0.37	5.65	5.65	0.86999	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.86477	0.5942	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	0.974;1.0	D;D	0.85130	0.953;0.997	D	0.88055	0.2790	9	.	.	.	-14.9219	20.1057	0.97893	0.0:1.0:0.0:0.0	.	401;401	Q86VP6-2;Q86VP6	.;CAND1_HUMAN	I	401;401;243;109	ENSP00000442318:L401I;ENSP00000444089:L109I	.	L	+	1	0	CAND1	65982570	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.027000	0.70881	2.827000	0.97445	0.650000	0.86243	CTT		0.433	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448		51	88	1	0	1.21353e-23	1	1.32542e-23	51	88				
EML3	256364	broad.mit.edu	37	11	62374473	62374473	+	Silent	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:62374473C>T	ENST00000394773.2	-	12	1768	c.1461G>A	c.(1459-1461)cgG>cgA	p.R487R	EML3_ENST00000438258.1_5'UTR|EML3_ENST00000531557.1_Silent_p.R270R|EML3_ENST00000278845.4_Silent_p.R488R|RP11-831H9.3_ENST00000532626.1_RNA|EML3_ENST00000529309.1_Silent_p.R487R|EML3_ENST00000494176.2_Silent_p.R459R	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	487						cytoplasm (GO:0005737)|microtubule (GO:0005874)				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CTGAAGGGCTCCGCCCCCAGG	0.542																																						ENST00000394773.2																			0				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1459-1461)cgG>cgA		echinoderm microtubule associated protein like 3							63.0	67.0	66.0					11																	62374473		2202	4299	6501	SO:0001819	synonymous_variant	256364					cytoplasm|microtubule	protein binding	g.chr11:62374473C>T	AK093146	CCDS8023.2	11q12.3	2013-01-10			ENSG00000149499	ENSG00000149499		"""WD repeat domain containing"""	26666	protein-coding gene	gene with protein product						15225882, 14744259	Standard	NM_153265		Approved	FLJ35827, ELP95	uc001ntu.1	Q32P44	OTTHUMG00000149817	ENST00000394773.2:c.1461G>A	11.37:g.62374473C>T						EML3_ENST00000494176.2_Silent_p.R459R|EML3_ENST00000531557.1_Silent_p.R270R|EML3_ENST00000529309.1_Silent_p.R487R|EML3_ENST00000278845.4_Silent_p.R488R|EML3_ENST00000438258.1_5'UTR	p.R487R	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN			12	1768	-			487					Q6ZQW7|Q8NA55	Silent	SNP	ENST00000394773.2	37	c.1461G>A	CCDS8023.2	.	.	.	.	.	.	.	.	.	.	C	7.737	0.700520	0.15106	.	.	ENSG00000149499	ENST00000394776	.	.	.	5.22	3.34	0.38264	.	.	.	.	.	T	0.53818	0.1820	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46275	-0.9203	4	.	.	.	-20.7293	5.1523	0.15017	0.0:0.6405:0.1727:0.1868	.	.	.	.	K	482	.	.	E	-	1	0	EML3	62131049	0.908000	0.30866	1.000000	0.80357	0.662000	0.39071	0.023000	0.13533	0.588000	0.29660	-0.354000	0.07668	GAG		0.542	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313432.1	NM_153265		20	48	0	0	0	1	0	20	48				
PDPN	10630	broad.mit.edu	37	1	13910431	13910431	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:13910431C>A	ENST00000294489.6	+	1	472	c.131C>A	c.(130-132)tCc>tAc	p.S44Y	PDPN_ENST00000376057.4_Missense_Mutation_p.S44Y|PDPN_ENST00000475043.1_5'Flank|PDPN_ENST00000509009.1_5'Flank|PDPN_ENST00000513143.1_5'Flank|PDPN_ENST00000376061.4_5'Flank|PDPN_ENST00000487038.1_5'Flank					podoplanin											endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		CCGTCGCGCTCCTCCAGGCTG	0.657																																						ENST00000294489.6																			0				endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16						c.(130-132)tCc>tAc		podoplanin							19.0	21.0	21.0					1																	13910431		2203	4299	6502	SO:0001583	missense	10630				cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane		g.chr1:13910431C>A	AB127958, AY194238	CCDS30602.1, CCDS41266.1, CCDS44060.1, CCDS53270.1	1p36.21	2008-02-05			ENSG00000162493	ENSG00000162493			29602	protein-coding gene	gene with protein product	"""lung type I cell membrane associated glycoprotein"""	608863				10393083, 9651190	Standard	NM_006474		Approved	T1A-2, Gp38, aggrus, GP40, PA2.26	uc001avd.3	Q86YL7	OTTHUMG00000007912	ENST00000294489.6:c.131C>A	1.37:g.13910431C>A	ENSP00000294489:p.Ser44Tyr					PDPN_ENST00000376057.4_Missense_Mutation_p.S44Y	p.S44Y			Q86YL7	PDPN_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)	1	472	+	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	0						Missense_Mutation	SNP	ENST00000294489.6	37	c.131C>A	CCDS30602.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.902710	0.33628	.	.	ENSG00000162493	ENST00000294489;ENST00000376057;ENST00000510906	T;T;T	0.48836	0.8;0.8;0.8	4.93	3.02	0.34903	.	2.709130	0.01464	N	0.015981	T	0.48390	0.1497	N	0.08118	0	0.19575	N	0.999962	D;D	0.64830	0.994;0.994	P;P	0.62740	0.906;0.906	T	0.46176	-0.9210	10	0.87932	D	0	-3.3634	6.6946	0.23191	0.0:0.6989:0.2011:0.1	.	44;44	Q86YL7-3;Q86YL7-4	.;.	Y	44;44;35	ENSP00000294489:S44Y;ENSP00000365225:S44Y;ENSP00000426302:S35Y	ENSP00000294489:S44Y	S	+	2	0	PDPN	13783018	0.000000	0.05858	0.002000	0.10522	0.035000	0.12851	0.264000	0.18497	0.568000	0.29311	0.563000	0.77884	TCC		0.657	PDPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021783.2	NM_006474		16	32	1	0	1.99824e-07	1	2.05495e-07	16	32				
SPANXC	64663	broad.mit.edu	37	X	140335792	140335792	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:140335792A>T	ENST00000358993.2	-	2	190	c.152T>A	c.(151-153)cTa>cAa	p.L51Q		NM_022661.2	NP_073152.1	Q9NY87	SPNXC_HUMAN	SPANX family, member C	51						cytoplasm (GO:0005737)|nucleus (GO:0005634)				large_intestine(2)|lung(3)|pancreas(1)	6	Acute lymphoblastic leukemia(192;7.65e-05)					GCGAACCACTAGTATGGTCGA	0.507																																						ENST00000358993.2																			0				large_intestine(2)|lung(3)|pancreas(1)	6						c.(151-153)cTa>cAa		SPANX family, member C							150.0	109.0	122.0					X																	140335792		1447	3024	4471	SO:0001583	missense	64663					cytoplasm|nucleus		g.chrX:140335792A>T	AJ238277	CCDS14673.1	Xq27.2	2009-03-25			ENSG00000198573	ENSG00000198573			14331	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 3"""	300330				10626816	Standard	NM_022661		Approved	CTp11, CT11.3	uc004fbk.3	Q9NY87	OTTHUMG00000022556	ENST00000358993.2:c.152T>A	X.37:g.140335792A>T	ENSP00000351884:p.Leu51Gln						p.L51Q	NM_022661.2	NP_073152.1	Q9NY87	SPNXC_HUMAN			2	190	-	Acute lymphoblastic leukemia(192;7.65e-05)		51					Q32WL9|Q5JX88	Missense_Mutation	SNP	ENST00000358993.2	37	c.152T>A	CCDS14673.1	.	.	.	.	.	.	.	.	.	.	a	8.947	0.967215	0.18659	.	.	ENSG00000198573	ENST00000358993	T	0.11712	2.75	.	.	.	.	.	.	.	.	T	0.18467	0.0443	L	0.59436	1.845	0.09310	N	1	D	0.59767	0.986	P	0.54815	0.761	T	0.10337	-1.0634	7	0.87932	D	0	.	.	.	.	.	51	Q9NY87	SPNXC_HUMAN	Q	51	ENSP00000351884:L51Q	ENSP00000351884:L51Q	L	-	2	0	SPANXC	140163458	0.006000	0.16342	0.007000	0.13788	0.006000	0.05464	0.072000	0.14617	0.276000	0.22118	0.270000	0.19313	CTA		0.507	SPANXC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058590.1	NM_022661		17	120	0	0	0	1	0	17	120				
MTERF3	51001	broad.mit.edu	37	8	97263142	97263142	+	Silent	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr8:97263142C>T	ENST00000287025.3	-	4	767	c.669G>A	c.(667-669)ctG>ctA	p.L223L	MTERFD1_ENST00000522822.1_Silent_p.L102L|MTERFD1_ENST00000524341.1_Silent_p.L33L|MTERFD1_ENST00000523821.1_Silent_p.L223L	NM_015942.3	NP_057026.3	Q96E29	MTEF3_HUMAN		223					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)	transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					ACCTGGTCTTCAGATTTTCAA	0.358																																						ENST00000523821.1																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24						c.(667-669)ctG>ctA		MTERF domain containing 1							85.0	89.0	88.0					8																	97263142		2203	4300	6503	SO:0001819	synonymous_variant	51001				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding	g.chr8:97263142C>T																												ENST00000287025.3:c.669G>A	8.37:g.97263142C>T						MTERFD1_ENST00000524341.1_Silent_p.L33L|MTERFD1_ENST00000522822.1_Silent_p.L102L|MTERFD1_ENST00000287025.3_Silent_p.L223L	p.L223L			Q96E29	MTER1_HUMAN			4	788	-	Breast(36;5.16e-05)		223					B3KMG6|G3V130|Q9Y301	Silent	SNP	ENST00000287025.3	37	c.669G>A	CCDS6270.1																																																																																				0.358	MTERFD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379876.1			17	45	0	0	0	1	0	17	45				
CXorf56	63932	broad.mit.edu	37	X	118675309	118675309	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:118675309C>G	ENST00000371594.4	-	6	666	c.588G>C	c.(586-588)aaG>aaC	p.K196N	CXorf56_ENST00000320339.4_Missense_Mutation_p.K147N|CXorf56_ENST00000469448.1_5'UTR|CXorf56_ENST00000536133.1_Missense_Mutation_p.K182N	NM_022101.3	NP_071384.1	Q9H5V9	CX056_HUMAN	chromosome X open reading frame 56	196										cervix(1)|endometrium(2)|lung(7)	10						GCAGTCGCCTCTTGCTCATGC	0.493																																						ENST00000320339.4																			0				cervix(1)|endometrium(2)|lung(7)	10						c.(439-441)aaG>aaC		chromosome X open reading frame 56							156.0	129.0	138.0					X																	118675309		2203	4300	6503	SO:0001583	missense	63932						protein binding	g.chrX:118675309C>G	AK026618	CCDS55484.1, CCDS55485.1	Xq24	2008-02-05			ENSG00000018610	ENSG00000018610			26239	protein-coding gene	gene with protein product						12477932	Standard	NM_022101		Approved	FLJ22965	uc004erk.2	Q9H5V9	OTTHUMG00000022276	ENST00000371594.4:c.588G>C	X.37:g.118675309C>G	ENSP00000360652:p.Lys196Asn					CXorf56_ENST00000469448.1_5'UTR|CXorf56_ENST00000536133.1_Missense_Mutation_p.K182N|CXorf56_ENST00000486230.1_Missense_Mutation_p.K196N|CXorf56_ENST00000371594.4_Missense_Mutation_p.K196N|CXorf56_ENST00000476164.1_Missense_Mutation_p.K196N	p.K147N	NM_001170569.1	NP_001164040.1	Q9H5V9	CX056_HUMAN			6	712	-			196					A8MPX7|B4DQN2|D3DWH9|F5GWL7|O43351	Missense_Mutation	SNP	ENST00000371594.4	37	c.441G>C	CCDS14579.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.554832	0.65425	.	.	ENSG00000018610	ENST00000486230;ENST00000320339;ENST00000371594;ENST00000536133;ENST00000476164	T;T;T;T;T	0.25250	1.81;1.81;1.81;1.81;1.81	5.59	2.74	0.32292	.	0.046526	0.85682	D	0.000000	T	0.31136	0.0787	L	0.47716	1.5	0.45087	D	0.998105	P;P	0.49253	0.921;0.921	P;P	0.52386	0.678;0.697	T	0.02196	-1.1197	10	0.56958	D	0.05	-15.2363	8.7551	0.34641	0.0:0.6998:0.0:0.3002	.	182;196	F5GWL7;Q9H5V9	.;CX056_HUMAN	N	196;147;196;182;196	ENSP00000420787:K196N;ENSP00000320345:K147N;ENSP00000360652:K196N;ENSP00000441786:K182N;ENSP00000420635:K196N	ENSP00000320345:K147N	K	-	3	2	CXorf56	118559337	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.864000	0.27926	0.474000	0.27392	0.597000	0.82753	AAG		0.493	CXorf56-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_022101		30	104	0	0	0	1	0	30	104				
IQSEC3	440073	broad.mit.edu	37	12	274962	274962	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:274962C>G	ENST00000538872.1	+	11	2995	c.2877C>G	c.(2875-2877)ttC>ttG	p.F959L	RP11-598F7.6_ENST00000537295.1_lincRNA|RP11-598F7.5_ENST00000540136.1_RNA|IQSEC3_ENST00000382841.2_Missense_Mutation_p.F656L|IQSEC3_ENST00000326261.4_Missense_Mutation_p.F959L			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	959	PH.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		TGCTGCATTTCTGTGCCCTGG	0.587																																						ENST00000538872.1																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2875-2877)ttC>ttG		IQ motif and Sec7 domain 3							72.0	70.0	71.0					12																	274962		2203	4300	6503	SO:0001583	missense	440073				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chr12:274962C>G	AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.2877C>G	12.37:g.274962C>G	ENSP00000437554:p.Phe959Leu					RP11-598F7.5_ENST00000540136.1_RNA|IQSEC3_ENST00000326261.4_Missense_Mutation_p.F959L|IQSEC3_ENST00000382841.2_Missense_Mutation_p.F656L	p.F959L			Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	11	2995	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		959			PH.		A6NIF2|A6NKV9|Q8TB43	Missense_Mutation	SNP	ENST00000538872.1	37	c.2877C>G	CCDS53728.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.079949	0.76528	.	.	ENSG00000120645	ENST00000538872;ENST00000326261;ENST00000382841	T;T;T	0.27720	1.65;1.65;1.65	5.39	5.39	0.77823	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.047096	0.85682	N	0.000000	T	0.45135	0.1327	L	0.54908	1.71	0.80722	D	1	B;P	0.46142	0.259;0.873	B;P	0.51101	0.285;0.659	T	0.34428	-0.9829	10	0.62326	D	0.03	.	19.5308	0.95228	0.0:1.0:0.0:0.0	.	959;656	Q9UPP2;Q9UPP2-2	IQEC3_HUMAN;.	L	959;959;656	ENSP00000437554:F959L;ENSP00000315662:F959L;ENSP00000372292:F656L	ENSP00000315662:F959L	F	+	3	2	IQSEC3	145223	1.000000	0.71417	1.000000	0.80357	0.090000	0.18270	4.918000	0.63376	2.684000	0.91462	0.650000	0.86243	TTC		0.587	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	XM_495902		22	47	0	0	0	1	0	22	47				
C8A	731	broad.mit.edu	37	1	57320617	57320617	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:57320617C>G	ENST00000361249.3	+	1	139	c.43C>G	c.(43-45)Cag>Gag	p.Q15E		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	15					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GATGACTTGTCAGCCTGGGGT	0.453																																						ENST00000361249.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						c.(43-45)Cag>Gag		complement component 8, alpha polypeptide							193.0	151.0	166.0					1																	57320617		2203	4300	6503	SO:0001583	missense	731				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		g.chr1:57320617C>G	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"""Complement system"""	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.43C>G	1.37:g.57320617C>G	ENSP00000354458:p.Gln15Glu						p.Q15E	NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN			1	139	+			15					A2RUI4|A2RUI5|Q13668|Q9H130	Missense_Mutation	SNP	ENST00000361249.3	37	c.43C>G	CCDS606.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.806329	0.31961	.	.	ENSG00000157131	ENST00000361249	T	0.74842	-0.88	4.94	4.94	0.65067	.	0.983616	0.08273	N	0.971165	T	0.60573	0.2279	L	0.29908	0.895	0.09310	N	1	B	0.29037	0.231	B	0.22386	0.039	T	0.42120	-0.9470	10	0.02654	T	1	-0.157	13.5311	0.61623	0.0:1.0:0.0:0.0	.	15	P07357	CO8A_HUMAN	E	15	ENSP00000354458:Q15E	ENSP00000354458:Q15E	Q	+	1	0	C8A	57093205	0.281000	0.24258	0.764000	0.31436	0.999000	0.98932	2.129000	0.42055	2.563000	0.86464	0.655000	0.94253	CAG		0.453	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562		5	23	0	0	0	1	0	5	23				
GPHN	10243	broad.mit.edu	37	14	67576890	67576890	+	Missense_Mutation	SNP	C	C	T	rs376650247		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr14:67576890C>T	ENST00000315266.5	+	13	2349	c.1228C>T	c.(1228-1230)Cgg>Tgg	p.R410W	GPHN_ENST00000543237.1_Missense_Mutation_p.R456W|GPHN_ENST00000305960.9_Missense_Mutation_p.R379W|GPHN_ENST00000478722.1_Missense_Mutation_p.R443W|GPHN_ENST00000544752.2_3'UTR	NM_001024218.1	NP_001019389.1	Q9NQX3	GEPH_HUMAN	gephyrin	410	MPT adenylyltransferase.				establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycine receptor clustering (GO:0072579)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|molybdopterin adenylyltransferase activity (GO:0061598)|molybdopterin molybdotransferase activity (GO:0061599)|transferase activity (GO:0016740)			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		ACAAGTCATGCGGGTTACAAC	0.453			T	MLL	AL																																	ENST00000478722.1				Dom	yes		14	14q24	10243	T	gephyrin (GPH)			L	MLL		AL		0				large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12						c.(1327-1329)Cgg>Tgg		gephyrin							191.0	164.0	173.0					14																	67576890		2203	4300	6503	SO:0001583	missense	10243				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity	g.chr14:67576890C>T	AB037806	CCDS9777.1, CCDS32103.1	14q23.3	2008-04-22			ENSG00000171723	ENSG00000171723			15465	protein-coding gene	gene with protein product		603930				1319186, 10325225, 18403029	Standard	XM_005267250		Approved	KIAA1385	uc001xix.3	Q9NQX3	OTTHUMG00000029785	ENST00000315266.5:c.1228C>T	14.37:g.67576890C>T	ENSP00000312771:p.Arg410Trp					GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000315266.5_Missense_Mutation_p.R410W|GPHN_ENST00000305960.9_Missense_Mutation_p.R379W|GPHN_ENST00000543237.1_Missense_Mutation_p.R456W	p.R443W	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)	14	2448	+		all_cancers(7;0.0476)|all_hematologic(31;0.0116)	410			MPT adenylyltransferase.		Q9H4E9|Q9P2G2	Missense_Mutation	SNP	ENST00000315266.5	37	c.1327C>T	CCDS32103.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.166244	0.78339	.	.	ENSG00000171723	ENST00000315266;ENST00000478722;ENST00000543237;ENST00000305960	.	.	.	5.6	3.65	0.41850	MoeA, N-terminal and linker domain (2);	0.000000	0.85682	D	0.000000	T	0.80879	0.4708	M	0.88842	2.985	0.80722	D	1	D;D;D;D	0.89917	0.996;1.0;0.996;1.0	P;D;P;D	0.76071	0.691;0.987;0.647;0.983	D	0.84843	0.0809	9	0.87932	D	0	-4.9782	13.259	0.60095	0.4098:0.5902:0.0:0.0	.	379;456;410;443	F8W7D6;F5H039;Q9NQX3;Q9NQX3-2	.;.;GEPH_HUMAN;.	W	410;443;456;379	.	ENSP00000303019:R379W	R	+	1	2	GPHN	66646643	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.956000	0.40382	1.333000	0.45449	0.655000	0.94253	CGG		0.453	GPHN-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000074299.2	NM_020806		5	139	0	0	0	1	0	5	139				
SCO1	6341	broad.mit.edu	37	17	10600743	10600743	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:10600743C>G	ENST00000255390.5	-	1	142	c.82G>C	c.(82-84)Gag>Cag	p.E28Q	SCO1_ENST00000582053.1_Intron|ADPRM_ENST00000379774.4_5'Flank|SCO1_ENST00000577427.1_Missense_Mutation_p.E28Q	NM_004589.2	NP_004580.1	O75880	SCO1_HUMAN	SCO1 cytochrome c oxidase assembly protein	28					cellular copper ion homeostasis (GO:0006878)|copper ion transport (GO:0006825)|generation of precursor metabolites and energy (GO:0006091)|respiratory chain complex IV assembly (GO:0008535)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|myofibril (GO:0030016)	copper ion binding (GO:0005507)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	10						CCCCAAAACTCGAGTCCGCGA	0.667																																					Melanoma(128;591 1731 19711 31891 44645)	ENST00000255390.5																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	10						c.(82-84)Gag>Cag		SCO1 cytochrome c oxidase assembly protein							15.0	15.0	15.0					17																	10600743		2201	4293	6494	SO:0001583	missense	6341				cellular copper ion homeostasis|copper ion transport|generation of precursor metabolites and energy|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding	g.chr17:10600743C>G	AF026852	CCDS11158.1	17p13.1	2012-10-15	2012-10-15		ENSG00000133028	ENSG00000133028		"""Mitochondrial respiratory chain complex assembly factors"""	10603	protein-coding gene	gene with protein product		603644	"""SCO (cytochrome oxidase deficient, yeast) homolog 1"", ""SCO cytochrome oxidase deficient homolog 1 (yeast)"""	SCOD1		9878253	Standard	NM_004589		Approved		uc002gmr.4	O75880	OTTHUMG00000130364	ENST00000255390.5:c.82G>C	17.37:g.10600743C>G	ENSP00000255390:p.Glu28Gln					SCO1_ENST00000577427.1_Missense_Mutation_p.E28Q	p.E28Q	NM_004589.2	NP_004580.1	O75880	SCO1_HUMAN			1	142	-			28					B2RDM0	Missense_Mutation	SNP	ENST00000255390.5	37	c.82G>C	CCDS11158.1	.	.	.	.	.	.	.	.	.	.	C	11.28	1.592735	0.28357	.	.	ENSG00000133028	ENST00000255390;ENST00000396047	D	0.84070	-1.8	4.63	0.067	0.14364	.	1.210610	0.05463	N	0.551678	T	0.64023	0.2561	N	0.14661	0.345	0.09310	N	1	B;B	0.31077	0.307;0.307	B;B	0.26310	0.068;0.049	T	0.51756	-0.8665	10	0.13853	T	0.58	-0.1355	3.5321	0.07781	0.1617:0.4337:0.3142:0.0903	.	28;28	A8MY34;O75880	.;SCO1_HUMAN	Q	28	ENSP00000255390:E28Q	ENSP00000255390:E28Q	E	-	1	0	SCO1	10541468	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.630000	0.05502	0.086000	0.17137	0.655000	0.94253	GAG		0.667	SCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252729.2	NM_004589		11	10	0	0	0	1	0	11	10				
PRRC2A	7916	broad.mit.edu	37	6	31600501	31600501	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:31600501G>A	ENST00000376033.2	+	16	4285	c.4051G>A	c.(4051-4053)Gtg>Atg	p.V1351M	PRRC2A_ENST00000376007.4_Missense_Mutation_p.V1351M	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1351	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						ACCCAAGGCTGTGGGAACTCC	0.582																																						ENST00000376033.2																			0				breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						c.(4051-4053)Gtg>Atg		proline-rich coiled-coil 2A							85.0	91.0	89.0					6																	31600501		1509	2708	4217	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31600501G>A	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.4051G>A	6.37:g.31600501G>A	ENSP00000365201:p.Val1351Met					PRRC2A_ENST00000376007.4_Missense_Mutation_p.V1351M	p.V1351M	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN			16	4285	+			1351			4 X 57 AA type A repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	c.4051G>A	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	g	1.639	-0.516898	0.04171	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.01918	4.56;4.56	5.22	1.38	0.22167	.	0.552447	0.16489	N	0.212208	T	0.00637	0.0021	L	0.29908	0.895	0.09310	N	1	B	0.17038	0.02	B	0.10450	0.005	T	0.48163	-0.9059	10	0.87932	D	0	-1.1669	4.0258	0.09687	0.1452:0.1283:0.5937:0.1327	.	1351	P48634	PRC2A_HUMAN	M	1345;1334;1351;1351;576	ENSP00000365175:V1351M;ENSP00000365201:V1351M	ENSP00000365175:V1351M	V	+	1	0	PRRC2A	31708480	0.007000	0.16637	0.697000	0.30258	0.337000	0.28794	-0.092000	0.11129	0.061000	0.16311	-0.215000	0.12644	GTG		0.582	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		38	104	0	0	0	1	0	38	104				
DTX3L	151636	broad.mit.edu	37	3	122288293	122288293	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:122288293C>G	ENST00000296161.4	+	3	1546	c.1357C>G	c.(1357-1359)Ctt>Gtt	p.L453V	DTX3L_ENST00000383661.3_Intron	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3 like, E3 ubiquitin ligase	453					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone monoubiquitination (GO:0010390)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		GAGAGAAGTTCTTTTACTGAA	0.403																																						ENST00000296161.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(1357-1359)Ctt>Gtt		deltex 3-like (Drosophila)							140.0	131.0	134.0					3																	122288293		2203	4300	6503	SO:0001583	missense	151636				histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:122288293C>G		CCDS3015.1	3q21.1	2014-01-28	2014-01-28		ENSG00000163840	ENSG00000163840		"""RING-type (C3HC4) zinc fingers"""	30323	protein-coding gene	gene with protein product	"""rhysin 2"""	613143	"""deltex 3-like (Drosophila)"""			12670957, 22411408	Standard	NM_138287		Approved	BBAP	uc003efk.3	Q8TDB6	OTTHUMG00000159524	ENST00000296161.4:c.1357C>G	3.37:g.122288293C>G	ENSP00000296161:p.Leu453Val					DTX3L_ENST00000383661.3_Intron	p.L453V	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN		GBM - Glioblastoma multiforme(114;0.0459)	3	1546	+			453					B3KWH6|Q53ZZ3|Q5MJP7	Missense_Mutation	SNP	ENST00000296161.4	37	c.1357C>G	CCDS3015.1	.	.	.	.	.	.	.	.	.	.	C	6.083	0.383578	0.11524	.	.	ENSG00000163840	ENST00000296161	T	0.30714	1.52	5.61	-1.68	0.08212	.	0.774866	0.11399	N	0.567983	T	0.20618	0.0496	L	0.50333	1.59	0.09310	N	0.999999	B	0.31077	0.307	B	0.18561	0.022	T	0.15665	-1.0429	10	0.59425	D	0.04	-2.1989	4.7395	0.13005	0.2083:0.381:0.3344:0.0762	.	453	Q8TDB6	DTX3L_HUMAN	V	453	ENSP00000296161:L453V	ENSP00000296161:L453V	L	+	1	0	DTX3L	123770983	0.002000	0.14202	0.025000	0.17156	0.112000	0.19704	0.044000	0.13992	-0.136000	0.11475	-1.051000	0.02340	CTT		0.403	DTX3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355966.1	NM_138287		41	113	0	0	0	1	0	41	113				
FGA	2243	broad.mit.edu	37	4	155510018	155510018	+	Silent	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr4:155510018C>T	ENST00000302053.3	-	3	369	c.291G>A	c.(289-291)aaG>aaA	p.K97K	FGA_ENST00000403106.3_Silent_p.K97K	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	97					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CCTTATTGTTCTTCTGATATT	0.333																																					NSCLC(143;340 1922 20892 22370 48145)	ENST00000302053.3																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73						c.(289-291)aaG>aaA		fibrinogen alpha chain	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						138.0	148.0	145.0					4																	155510018		2203	4300	6503	SO:0001819	synonymous_variant	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155510018C>T		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.291G>A	4.37:g.155510018C>T						FGA_ENST00000403106.3_Silent_p.K97K	p.K97K	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN			3	369	-	all_hematologic(180;0.215)	Renal(120;0.0458)	97					A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Silent	SNP	ENST00000302053.3	37	c.291G>A	CCDS3787.1																																																																																				0.333	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		35	75	0	0	0	1	0	35	75				
SLC45A3	85414	broad.mit.edu	37	1	205632625	205632625	+	Silent	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:205632625C>T	ENST00000367145.3	-	3	589	c.294G>A	c.(292-294)ctG>ctA	p.L98L	SLC45A3_ENST00000460934.1_5'Flank	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	98					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			GAAAGAGGCTCAGCAGGATGC	0.677			T	"""ETV1, ETV5, ELK4, ERG"""	prostate																																	ENST00000367145.3				Dom	yes		1	1q32	85414	T	"""solute carrier family 45, member 3"""			E	"""ETV1, ETV5, ELK4, ERG"""		prostate	SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21						c.(292-294)ctG>ctA		solute carrier family 45, member 3							20.0	23.0	22.0					1																	205632625		2199	4287	6486	SO:0001819	synonymous_variant	85414				transmembrane transport	integral to membrane		g.chr1:205632625C>T	AF109301	CCDS1458.1	1q32.1	2013-05-22	2005-10-04	2005-10-04	ENSG00000158715	ENSG00000158715		"""Solute carriers"""	8642	protein-coding gene	gene with protein product		605097	"""prostate cancer associated protein 6"", ""prostate cancer associated protein 2"", ""prostate cancer associated protein 8"""	PCANAP6, PCANAP2, PCANAP8		10613842, 11245466	Standard	XM_005245556		Approved	IPCA-6, prostein, IPCA-2, IPCA-8	uc001hda.1	Q96JT2	OTTHUMG00000037223	ENST00000367145.3:c.294G>A	1.37:g.205632625C>T							p.L98L	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0194)		3	589	-	Breast(84;0.07)		98					A8K2U9	Silent	SNP	ENST00000367145.3	37	c.294G>A	CCDS1458.1																																																																																				0.677	SLC45A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090619.1	NM_033102		13	42	0	0	0	1	0	13	42				
CREBBP	1387	broad.mit.edu	37	16	3790493	3790493	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr16:3790493C>T	ENST00000262367.5	-	24	4849	c.4040G>A	c.(4039-4041)cGg>cAg	p.R1347Q	CREBBP_ENST00000382070.3_Missense_Mutation_p.R1309Q	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1347	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Cys/His-rich.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		ATTCTGGCGCCGCAAAAATTT	0.567			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"""T, N, F, Mis, O"""	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"""MLL, MORF, RUNXBP2"""		"""ALL, AML, DLBCL, B-NHL """		0				NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(4039-4041)cGg>cAg		CREB binding protein							73.0	74.0	74.0					16																	3790493		2197	4300	6497	SO:0001583	missense	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3790493C>T	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.4040G>A	16.37:g.3790493C>T	ENSP00000262367:p.Arg1347Gln					CREBBP_ENST00000382070.3_Missense_Mutation_p.R1309Q	p.R1347Q	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	24	4849	-		Ovarian(90;0.0266)	1347			Cys/His-rich.		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.4040G>A	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	c	21.1	4.090872	0.76756	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.93076	-3.16;-3.16	5.05	5.05	0.67936	.	0.000000	0.64402	D	0.000004	D	0.89511	0.6736	L	0.31294	0.92	0.45718	D	0.998624	P;P	0.52463	0.953;0.953	B;B	0.40864	0.342;0.342	D	0.90458	0.4444	10	0.49607	T	0.09	-30.9344	18.784	0.91946	0.0:1.0:0.0:0.0	.	1377;1347	Q4LE28;Q92793	.;CBP_HUMAN	Q	1347;1377;1309	ENSP00000262367:R1347Q;ENSP00000371502:R1309Q	ENSP00000262367:R1347Q	R	-	2	0	CREBBP	3730494	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.568000	0.67385	2.503000	0.84419	0.555000	0.69702	CGG		0.567	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		20	56	0	0	0	1	0	20	56				
CDH18	1016	broad.mit.edu	37	5	19483580	19483580	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:19483580G>C	ENST00000507958.1	-	14	2702	c.1712C>G	c.(1711-1713)tCt>tGt	p.S571C	CDH18_ENST00000382275.1_Missense_Mutation_p.S571C|CDH18_ENST00000506372.1_Intron|CDH18_ENST00000274170.4_Missense_Mutation_p.S571C|CDH18_ENST00000502796.1_Intron			Q13634	CAD18_HUMAN	cadherin 18, type 2	571	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TCCACCATCAGAGATCATAAT	0.507																																						ENST00000507958.1																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138						c.(1711-1713)tCt>tGt		cadherin 18, type 2							93.0	79.0	84.0					5																	19483580		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19483580G>C	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1712C>G	5.37:g.19483580G>C	ENSP00000425093:p.Ser571Cys					CDH18_ENST00000502796.1_Intron|CDH18_ENST00000506372.1_Intron|CDH18_ENST00000382275.1_Missense_Mutation_p.S571C|CDH18_ENST00000274170.4_Missense_Mutation_p.S571C	p.S571C			Q13634	CAD18_HUMAN			14	2702	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		571			Cadherin 5.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.1712C>G	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.887049	0.72410	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170	T;T;T	0.54866	0.55;0.55;0.55	5.69	5.69	0.88448	Cadherin (4);Cadherin-like (1);	0.403479	0.28683	N	0.014491	T	0.71434	0.3339	M	0.77313	2.365	0.40776	D	0.983133	P	0.40230	0.708	P	0.55545	0.778	T	0.69727	-0.5067	9	.	.	.	.	18.3739	0.90428	0.0:0.0:1.0:0.0	.	571	Q13634	CAD18_HUMAN	C	571	ENSP00000371710:S571C;ENSP00000425093:S571C;ENSP00000274170:S571C	.	S	-	2	0	CDH18	19519337	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.769000	0.62300	2.696000	0.92011	0.655000	0.94253	TCT		0.507	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		12	28	0	0	0	1	0	12	28				
ZNF763	284390	broad.mit.edu	37	19	12089293	12089293	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:12089293C>T	ENST00000358987.3	+	4	681	c.554C>T	c.(553-555)tCa>tTa	p.S185L	ZNF763_ENST00000545530.1_Missense_Mutation_p.S63L|ZNF763_ENST00000538752.1_Missense_Mutation_p.S205L|ZNF763_ENST00000343949.5_Missense_Mutation_p.S188L|ZNF763_ENST00000590798.1_Missense_Mutation_p.S205L			Q0D2J5	ZN763_HUMAN	zinc finger protein 763	185					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						ATTTCCCATTCAGGCATTCGA	0.413																																						ENST00000343949.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						c.(562-564)tCa>tTa		zinc finger protein 763							116.0	119.0	118.0					19																	12089293		2202	4300	6502	SO:0001583	missense	284390							g.chr19:12089293C>T	AK092240	CCDS45982.1	19p13.2	2014-02-12	2006-08-14		ENSG00000197054	ENSG00000197054		"""Zinc fingers, C2H2-type"", ""-"""	27614	protein-coding gene	gene with protein product							Standard	NM_001012753		Approved	ZNF440L		Q0D2J5	OTTHUMG00000156430	ENST00000358987.3:c.554C>T	19.37:g.12089293C>T	ENSP00000402017:p.Ser185Leu					ZNF763_ENST00000545530.1_Missense_Mutation_p.S63L|ZNF763_ENST00000538752.1_Missense_Mutation_p.S205L|ZNF763_ENST00000590798.1_Missense_Mutation_p.S205L|ZNF763_ENST00000358987.3_Missense_Mutation_p.S185L	p.S188L	NM_001012753.1	NP_001012771.1					4	718	+								B3KRU3|B4DRE7	Missense_Mutation	SNP	ENST00000358987.3	37	c.563C>T		.	.	.	.	.	.	.	.	.	.	c	12.56	1.976007	0.34848	.	.	ENSG00000197054	ENST00000538752;ENST00000343949;ENST00000545530;ENST00000358987	T;T;T;T	0.17691	2.26;2.26;2.26;2.26	1.4	0.182	0.15077	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16938	0.0407	M	0.64260	1.97	0.09310	N	1	P;P;P	0.40476	0.718;0.651;0.552	B;B;B	0.39258	0.295;0.272;0.235	T	0.13388	-1.0511	9	0.66056	D	0.02	.	5.694	0.17845	0.0:0.7948:0.0:0.2052	.	205;185;188	F5H0A9;Q0D2J5;Q0D2J5-2	.;ZN763_HUMAN;.	L	205;188;63;185	ENSP00000438117:S205L;ENSP00000369774:S188L;ENSP00000446166:S63L;ENSP00000402017:S185L	ENSP00000369774:S188L	S	+	2	0	ZNF763	11950293	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.274000	0.08537	-0.100000	0.12241	0.195000	0.17529	TCA		0.413	ZNF763-002	KNOWN	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000344158.1	NM_001012753		45	125	0	0	0	1	0	45	125				
ADRM1	11047	broad.mit.edu	37	20	60881334	60881334	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr20:60881334G>T	ENST00000253003.2	+	4	458	c.412G>T	c.(412-414)Ggg>Tgg	p.G138W	RP11-157P1.4_ENST00000414042.1_RNA|LAMA5_ENST00000492698.1_5'Flank|ADRM1_ENST00000462554.1_3'UTR	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1	138	Gly-rich.				positive regulation of endopeptidase activity (GO:0010950)|proteasome assembly (GO:0043248)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)|protease binding (GO:0002020)|proteasome binding (GO:0070628)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			TGGGGCGCTGGGGGCCAGCGG	0.597																																						ENST00000253003.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5						c.(412-414)Ggg>Tgg		adhesion regulating molecule 1							128.0	119.0	122.0					20																	60881334		2203	4300	6503	SO:0001583	missense	11047				proteasome assembly|transcription elongation from RNA polymerase II promoter	cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex	endopeptidase activator activity|protease binding|proteasome binding	g.chr20:60881334G>T	D64154	CCDS13496.1, CCDS74747.1	20q13.33	2008-05-22			ENSG00000130706	ENSG00000130706			15759	protein-coding gene	gene with protein product		610650				8033103	Standard	NM_007002		Approved	GP110, Rpn13, ARM1	uc002yco.3	Q16186	OTTHUMG00000032904	ENST00000253003.2:c.412G>T	20.37:g.60881334G>T	ENSP00000253003:p.Gly138Trp					RP11-157P1.4_ENST00000414042.1_RNA|ADRM1_ENST00000462554.1_3'UTR	p.G138W	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.51e-06)		4	458	+	Breast(26;7.76e-09)		138			Gly-rich.		A0PKB1|Q96FJ7|Q9H1P2	Missense_Mutation	SNP	ENST00000253003.2	37	c.412G>T	CCDS13496.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.763061	0.69763	.	.	ENSG00000130706	ENST00000370744;ENST00000253003	.	.	.	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	D	0.83027	0.5165	M	0.82056	2.57	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.85130	0.958;0.997	D	0.85832	0.1392	9	0.87932	D	0	-21.1278	17.9287	0.88991	0.0:0.0:1.0:0.0	.	138;138	B4DMP7;Q16186	.;ADRM1_HUMAN	W	138	.	ENSP00000253003:G138W	G	+	1	0	ADRM1	60314729	1.000000	0.71417	0.955000	0.39395	0.663000	0.39108	7.485000	0.81204	2.334000	0.79466	0.561000	0.74099	GGG		0.597	ADRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080007.1			44	132	1	0	1.48734e-19	1	1.61303e-19	44	132				
PLRG1	5356	broad.mit.edu	37	4	155457852	155457852	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr4:155457852C>G	ENST00000499023.2	-	15	1656	c.1530G>C	c.(1528-1530)aaG>aaC	p.K510N	PLRG1_ENST00000393905.2_Missense_Mutation_p.K510N|PLRG1_ENST00000302078.5_Missense_Mutation_p.K501N	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	510					mRNA splicing, via spliceosome (GO:0000398)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|protein localization to nucleus (GO:0034504)|regulation of RNA biosynthetic process (GO:2001141)|signal transduction (GO:0007165)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				ATCTCTTTCTCTTGATAATTT	0.279																																						ENST00000499023.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22						c.(1528-1530)aaG>aaC		pleiotropic regulator 1							48.0	51.0	50.0					4																	155457852		2199	4283	6482	SO:0001583	missense	5356					catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity	g.chr4:155457852C>G	AF044333	CCDS34083.1, CCDS56341.1	4q31.2-q32.1	2013-01-10	2011-05-19		ENSG00000171566	ENSG00000171566		"""WD repeat domain containing"""	9089	protein-coding gene	gene with protein product	"""transport and golgi organization 4 homolog (Drosophila)"""	605961	"""pleiotropic regulator 1 (PRL1, Arabidopsis homolog)"", ""pleiotropic regulator 1 (PRL1 homolog, Arabidopsis)"""				Standard	NM_002669		Approved	PRL1, Prp46, PRPF46, Cwc1, TANGO4	uc003iny.3	O43660	OTTHUMG00000161411	ENST00000499023.2:c.1530G>C	4.37:g.155457852C>G	ENSP00000424417:p.Lys510Asn					PLRG1_ENST00000393905.2_Missense_Mutation_p.K510N|PLRG1_ENST00000302078.5_Missense_Mutation_p.K501N	p.K510N	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN			15	1656	-	all_hematologic(180;0.215)	Renal(120;0.0854)	510					B3KMK4|Q3KQY5|Q8WUD8	Missense_Mutation	SNP	ENST00000499023.2	37	c.1530G>C	CCDS34083.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.85|16.85	3.237635|3.237635	0.58886|0.58886	.|.	.|.	ENSG00000171566|ENSG00000171566	ENST00000503251|ENST00000499023;ENST00000393905;ENST00000302078	T|T;T;T	0.79352|0.65732	-1.26|-0.15;-0.15;-0.17	5.3|5.3	3.58|3.58	0.41010|0.41010	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.64216|0.64216	0.2578|0.2578	M|M	0.71206|0.71206	2.165|2.165	0.80722|0.80722	D|D	1|1	.|P;B	.|0.45212	.|0.853;0.034	.|P;B	.|0.48627	.|0.584;0.024	T|T	0.62826|0.62826	-0.6772|-0.6772	7|10	0.13853|0.54805	T|T	0.58|0.06	-8.9149|-8.9149	6.0964|6.0964	0.20023|0.20023	0.0:0.6433:0.1354:0.2213|0.0:0.6433:0.1354:0.2213	.|.	.|501;510	.|O43660-2;O43660	.|.;PLRG1_HUMAN	Q|N	89|510;510;501	ENSP00000426497:E89Q|ENSP00000424417:K510N;ENSP00000377483:K510N;ENSP00000303191:K501N	ENSP00000426497:E89Q|ENSP00000303191:K501N	E|K	-|-	1|3	0|2	PLRG1|PLRG1	155677302|155677302	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.380000|1.380000	0.34351|0.34351	0.631000|0.631000	0.30412|0.30412	0.591000|0.591000	0.81541|0.81541	GAG|AAG		0.279	PLRG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364824.1	NM_002669		15	21	0	0	0	1	0	15	21				
MYO9B	4650	broad.mit.edu	37	19	17213220	17213220	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:17213220G>A	ENST00000594824.1	+	2	840	c.693G>A	c.(691-693)gtG>gtA	p.V231V	MYO9B_ENST00000397274.2_Silent_p.V231V|MYO9B_ENST00000595618.1_Silent_p.V231V|MYO9B_ENST00000593411.1_3'UTR			Q13459	MYO9B_HUMAN	myosin IXB	231	Myosin motor.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GGAAGCGCGTGAACCAGTGCA	0.607																																						ENST00000595618.1																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						c.(691-693)gtG>gtA		myosin IXB							74.0	77.0	76.0					19																	17213220		2161	4253	6414	SO:0001819	synonymous_variant	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17213220G>A		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.693G>A	19.37:g.17213220G>A						MYO9B_ENST00000397274.2_Silent_p.V231V|MYO9B_ENST00000594824.1_Silent_p.V231V|MYO9B_ENST00000593411.1_3'UTR	p.V231V	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN			2	845	+			231			Myosin head-like.		O75314|Q9NUJ2|Q9UHN0	Silent	SNP	ENST00000594824.1	37	c.693G>A																																																																																					0.607	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			32	67	0	0	0	1	0	32	67				
NOSTRIN	115677	broad.mit.edu	37	2	169707858	169707858	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:169707858G>A	ENST00000317647.7	+	10	1028	c.799G>A	c.(799-801)Gaa>Aaa	p.E267K	NOSTRIN_ENST00000458381.2_Missense_Mutation_p.E324K|NOSTRIN_ENST00000444448.2_Missense_Mutation_p.E324K|NOSTRIN_ENST00000421711.2_Missense_Mutation_p.E239K|NOSTRIN_ENST00000397206.2_Missense_Mutation_p.E189K|NOSTRIN_ENST00000445023.2_Missense_Mutation_p.E189K|NOSTRIN_ENST00000397209.2_Missense_Mutation_p.E239K	NM_001039724.3	NP_001034813.2	Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking	267					endocytosis (GO:0006897)|negative regulation of transcription, DNA-templated (GO:0045892)|nitric oxide metabolic process (GO:0046209)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoskeleton (GO:0005856)|endocytic vesicle membrane (GO:0030666)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						TGTAATGGAAGAAACTGCAAT	0.373																																						ENST00000444448.2																			0				kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						c.(970-972)Gaa>Aaa		nitric oxide synthase trafficking							69.0	67.0	68.0					2																	169707858		1858	4105	5963	SO:0001583	missense	115677				endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding	g.chr2:169707858G>A	AJ532842	CCDS42771.1, CCDS42772.1, CCDS54415.1, CCDS54416.1	2q31.1	2013-08-05	2013-08-05		ENSG00000163072	ENSG00000163072			20203	protein-coding gene	gene with protein product		607496	"""nitric oxide synthase trafficker"""			12446846	Standard	NM_001171631		Approved	MGC20702	uc002ueg.3	Q8IVI9	OTTHUMG00000153990	ENST00000317647.7:c.799G>A	2.37:g.169707858G>A	ENSP00000318921:p.Glu267Lys					NOSTRIN_ENST00000317647.7_Missense_Mutation_p.E267K|NOSTRIN_ENST00000445023.2_Missense_Mutation_p.E189K|NOSTRIN_ENST00000421711.2_Missense_Mutation_p.E239K|NOSTRIN_ENST00000397206.2_Missense_Mutation_p.E189K|NOSTRIN_ENST00000397209.2_Missense_Mutation_p.E239K|NOSTRIN_ENST00000458381.2_Missense_Mutation_p.E324K	p.E324K			Q8IVI9	NOSTN_HUMAN			13	1446	+			267					A8K2I9|B3KSF5|E7EPT9|Q27HG3|Q53S62|Q96CJ9	Missense_Mutation	SNP	ENST00000317647.7	37	c.970G>A	CCDS42771.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.214962	0.79352	.	.	ENSG00000163072	ENST00000458381;ENST00000444448;ENST00000317647;ENST00000445023;ENST00000397206;ENST00000397209;ENST00000421711	T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99	6.08	5.2	0.72013	.	0.097990	0.64402	D	0.000002	T	0.59582	0.2204	M	0.70595	2.14	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.993;0.967;0.985	D;D;P;P;P	0.85130	0.997;0.996;0.787;0.467;0.834	T	0.58295	-0.7661	10	0.12430	T	0.62	-23.6877	13.2545	0.60070	0.0762:0.0:0.9238:0.0	.	239;324;161;267;324	Q8IVI9-2;B3KSF5;D3DPB9;Q8IVI9;E7EPT9	.;.;.;NOSTN_HUMAN;.	K	324;324;267;189;189;239;239	ENSP00000402140:E324K;ENSP00000394051:E324K;ENSP00000318921:E267K;ENSP00000404413:E189K;ENSP00000380390:E189K;ENSP00000380392:E239K;ENSP00000401316:E239K	ENSP00000318921:E267K	E	+	1	0	NOSTRIN	169416104	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	4.538000	0.60650	1.595000	0.50050	0.655000	0.94253	GAA		0.373	NOSTRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333356.4	NM_052946		12	33	0	0	0	1	0	12	33				
FLNA	2316	broad.mit.edu	37	X	153587740	153587740	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:153587740C>G	ENST00000369850.3	-	25	4413	c.4177G>C	c.(4177-4179)Gag>Cag	p.E1393Q	FLNA_ENST00000369856.3_5'Flank|FLNA_ENST00000422373.1_Missense_Mutation_p.E1393Q|FLNA_ENST00000360319.4_Missense_Mutation_p.E1393Q|FLNA_ENST00000344736.4_Missense_Mutation_p.E1393Q	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1393					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GAGGGGCCCTCTACAGCCAGG	0.647																																						ENST00000422373.1																			0				breast(6)	6						c.(4177-4179)Gag>Cag		filamin A, alpha							70.0	80.0	77.0					X																	153587740		1997	4152	6149	SO:0001583	missense	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153587740C>G	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.4177G>C	X.37:g.153587740C>G	ENSP00000358866:p.Glu1393Gln					FLNA_ENST00000360319.4_Missense_Mutation_p.E1393Q|FLNA_ENST00000369850.3_Missense_Mutation_p.E1393Q|FLNA_ENST00000344736.4_Missense_Mutation_p.E1393Q	p.E1393Q	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			25	4425	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1393					E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.4177G>C	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.502003	0.85176	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.84660	-1.88;-1.88;-1.88;-1.88	5.54	5.54	0.83059	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.93044	0.7786	M	0.82716	2.605	0.80722	D	1	D;D	0.89917	1.0;0.97	D;P	0.77557	0.99;0.892	D	0.93905	0.7192	10	0.87932	D	0	.	18.5019	0.90884	0.0:1.0:0.0:0.0	.	1393;1393	P21333-2;P21333	.;FLNA_HUMAN	Q	1393;1366;1393;1393;1393	ENSP00000353467:E1393Q;ENSP00000416926:E1393Q;ENSP00000358866:E1393Q;ENSP00000358863:E1393Q	ENSP00000358863:E1393Q	E	-	1	0	FLNA	153240934	1.000000	0.71417	0.927000	0.36925	0.986000	0.74619	7.788000	0.85771	2.311000	0.77944	0.600000	0.82982	GAG		0.647	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			82	187	0	0	0	1	0	82	187				
CHL1	10752	broad.mit.edu	37	3	383734	383734	+	Missense_Mutation	SNP	G	G	C	rs116736772	byFrequency	TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:383734G>C	ENST00000256509.2	+	7	1290	c.648G>C	c.(646-648)caG>caC	p.Q216H	CHL1_ENST00000397491.2_Missense_Mutation_p.Q216H	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0	Glu-rich.|Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CTATTGTACAGAAAATGCCAA	0.383																																						ENST00000256509.2																			0				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93						c.(646-648)caG>caC		cell adhesion molecule L1-like							81.0	81.0	81.0					3																	383734		2203	4300	6503	SO:0001583	missense	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:383734G>C	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.648G>C	3.37:g.383734G>C	ENSP00000256509:p.Gln216His					CHL1_ENST00000397491.2_Missense_Mutation_p.Q216H	p.Q216H	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	7	1290	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	216			Ig-like C2-type 2.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	c.648G>C	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.061395	0.76187	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	T;T	0.39592	1.07;1.07	5.43	3.29	0.37713	Immunoglobulin subtype (1);Immunoglobulin-like (1);	0.000000	0.85682	D	0.000000	T	0.65893	0.2735	M	0.85630	2.765	0.53688	D	0.999977	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.985;0.985;1.0	T	0.69450	-0.5142	10	0.87932	D	0	.	11.8659	0.52493	0.098:0.0:0.902:0.0	.	216;216;216	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	H	216	ENSP00000256509:Q216H;ENSP00000380628:Q216H	ENSP00000256509:Q216H	Q	+	3	2	CHL1	358734	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.952000	0.56691	0.548000	0.28955	0.591000	0.81541	CAG		0.383	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		7	23	0	0	0	1	0	7	23				
ESPNP	284729	broad.mit.edu	37	1	17046559	17046559	+	RNA	SNP	C	C	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:17046559C>A	ENST00000492551.1	-	0	93					NR_026567.1				espin pseudogene																		GCGGTGGGATCCCCACCGCCA	0.607																																						ENST00000492551.1																			0																																																			284729							g.chr1:17046559C>A	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17046559C>A								NR_026567.1						0	93	-									RNA	SNP	ENST00000492551.1	37																																																																																						0.607	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			20	176	1	0	1.64113e-05	1	1.67097e-05	20	176				
SCN8A	6334	broad.mit.edu	37	12	52200305	52200305	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:52200305G>A	ENST00000354534.6	+	27	5213	c.5035G>A	c.(5035-5037)Gag>Aag	p.E1679K	SCN8A_ENST00000545061.1_Missense_Mutation_p.E1638K	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1679					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	TGTGAAGCACGAGGCTGGTAT	0.478																																						ENST00000354534.5																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(5035-5037)Gag>Aag		sodium channel, voltage gated, type VIII, alpha subunit	Lamotrigine(DB00555)						160.0	159.0	159.0					12																	52200305		2203	4300	6503	SO:0001583	missense	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52200305G>A	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.5035G>A	12.37:g.52200305G>A	ENSP00000346534:p.Glu1679Lys					SCN8A_ENST00000545061.1_Missense_Mutation_p.E1638K	p.E1679K	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	27	5213	+			1679					B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	c.5035G>A	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.422068	0.43020	.	.	ENSG00000196876	ENST00000354534;ENST00000545061	D;D	0.98362	-4.89;-4.89	5.32	5.32	0.75619	Ion transport (1);	0.092969	0.64402	D	0.000001	D	0.96331	0.8803	L	0.45581	1.43	0.58432	D	0.999998	B	0.33528	0.416	B	0.29663	0.105	D	0.94948	0.8097	10	0.31617	T	0.26	.	19.5787	0.95455	0.0:0.0:1.0:0.0	.	1679	Q9UQD0	SCN8A_HUMAN	K	1679;1638	ENSP00000346534:E1679K;ENSP00000440360:E1638K	ENSP00000346534:E1679K	E	+	1	0	SCN8A	50486572	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.808000	0.86044	2.941000	0.99782	0.655000	0.94253	GAG		0.478	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		71	54	0	0	0	1	0	71	54				
TNXB	7148	broad.mit.edu	37	6	32029484	32029484	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:32029484C>G	ENST00000375244.3	-	21	7383	c.7182G>C	c.(7180-7182)gaG>gaC	p.E2394D	TNXB_ENST00000375247.2_Missense_Mutation_p.E2394D			P22105	TENX_HUMAN	tenascin XB	2454	Fibronectin type-III 16. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGCTGGGGGTCTCTTCCTCTG	0.617																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(7180-7182)gaG>gaC		tenascin XB							43.0	53.0	50.0					6																	32029484		1216	2527	3743	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32029484C>G	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.7182G>C	6.37:g.32029484C>G	ENSP00000364393:p.Glu2394Asp					TNXB_ENST00000375247.2_Missense_Mutation_p.E2394D	p.E2394D			P22105	TENX_HUMAN			21	7383	-			2454			Fibronectin type-III 16.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.7182G>C		.	.	.	.	.	.	.	.	.	.	C	13.36	2.215142	0.39102	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.58506	0.51;0.33	4.51	1.7	0.24286	.	0.106938	0.41097	D	0.000954	T	0.28366	0.0701	M	0.62154	1.92	0.23411	N	0.997734	B	0.32010	0.351	B	0.32393	0.145	T	0.14783	-1.0460	10	0.35671	T	0.21	.	5.1637	0.15075	0.0:0.6327:0.1726:0.1947	.	2394	P22105-3	.	D	2394	ENSP00000364393:E2394D;ENSP00000364396:E2394D	ENSP00000364393:E2394D	E	-	3	2	TNXB	32137462	0.001000	0.12720	0.997000	0.53966	0.969000	0.65631	-0.532000	0.06164	0.331000	0.23511	0.585000	0.79938	GAG		0.617	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		29	78	0	0	0	1	0	29	78				
SUPT6H	6830	broad.mit.edu	37	17	27003401	27003401	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:27003401G>A	ENST00000314616.6	+	7	1133	c.850G>A	c.(850-852)Gat>Aat	p.D284N	SUPT6H_ENST00000347486.4_Missense_Mutation_p.D284N	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	284	Interaction with IWS1. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CCACCTCACAGATCAGGACAA	0.507																																						ENST00000314616.6																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(850-852)Gat>Aat		suppressor of Ty 6 homolog (S. cerevisiae)							84.0	80.0	81.0					17																	27003401		2203	4300	6503	SO:0001583	missense	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27003401G>A	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.850G>A	17.37:g.27003401G>A	ENSP00000319104:p.Asp284Asn					SUPT6H_ENST00000347486.4_Missense_Mutation_p.D284N	p.D284N	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN			7	1133	+	Lung NSC(42;0.00431)		284					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	c.850G>A	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	G	34	5.337026	0.95758	.	.	ENSG00000109111	ENST00000314616;ENST00000347486	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.83622	0.5294	M	0.85373	2.75	0.80722	D	1	D	0.76494	0.999	D	0.65874	0.939	D	0.85809	0.1378	9	0.72032	D	0.01	-21.4486	19.1693	0.93570	0.0:0.0:1.0:0.0	.	284	Q7KZ85	SPT6H_HUMAN	N	284	.	ENSP00000319104:D284N	D	+	1	0	SUPT6H	24027528	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	9.159000	0.94728	2.625000	0.88918	0.655000	0.94253	GAT		0.507	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		31	95	0	0	0	1	0	31	95				
ERC1	23085	broad.mit.edu	37	12	1192678	1192678	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:1192678G>A	ENST00000397203.2	+	3	1424	c.1018G>A	c.(1018-1020)Gag>Aag	p.E340K	ERC1_ENST00000543086.3_Missense_Mutation_p.E340K|ERC1_ENST00000360905.4_Missense_Mutation_p.E340K|ERC1_ENST00000355446.5_Missense_Mutation_p.E340K|ERC1_ENST00000589028.1_Missense_Mutation_p.E340K|ERC1_ENST00000546231.2_Missense_Mutation_p.E340K			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	340					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			GGCAGAGGCAGAGATGCACGT	0.428																																						ENST00000397203.2																			0				NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(1018-1020)Gag>Aag		ELKS/RAB6-interacting/CAST family member 1							99.0	95.0	96.0					12																	1192678		2203	4300	6503	SO:0001583	missense	23085				I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding	g.chr12:1192678G>A	AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"""RAB6 interacting protein 2"""	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.1018G>A	12.37:g.1192678G>A	ENSP00000380386:p.Glu340Lys					ERC1_ENST00000543086.3_Missense_Mutation_p.E340K|ERC1_ENST00000360905.4_Missense_Mutation_p.E340K|ERC1_ENST00000546231.2_Missense_Mutation_p.E340K|ERC1_ENST00000589028.1_Missense_Mutation_p.E340K|ERC1_ENST00000355446.5_Missense_Mutation_p.E340K	p.E340K			Q8IUD2	RB6I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)		3	1424	+	all_epithelial(11;0.0698)|Ovarian(42;0.107)		340					A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	ENST00000397203.2	37	c.1018G>A	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	G	35	5.431838	0.96150	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000543086;ENST00000542302;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394;ENST00000538971	T;T;T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.68641	0.3023	M	0.68593	2.085	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;0.994	D;D;D;D	0.91635	0.999;0.994;0.994;0.95	T	0.65001	-0.6274	10	0.39692	T	0.17	-25.0619	19.8756	0.96869	0.0:0.0:1.0:0.0	.	116;340;340;340	F5H327;Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;.;RB6I2_HUMAN	K	340;340;340;340;340;340;340;340;340;340;116	ENSP00000340054:E340K;ENSP00000380386:E340K;ENSP00000438546:E340K;ENSP00000445336:E340K;ENSP00000442739:E340K;ENSP00000347621:E340K;ENSP00000354158:E340K;ENSP00000410064:E340K	ENSP00000340054:E340K	E	+	1	0	ERC1	1062939	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.810000	0.99221	2.768000	0.95171	0.655000	0.94253	GAG		0.428	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	NM_015064		35	96	0	0	0	1	0	35	96				
DNAL4	10126	broad.mit.edu	37	22	39176933	39176933	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr22:39176933C>A	ENST00000216068.4	-	3	395	c.151G>T	c.(151-153)Gag>Tag	p.E51*	SUN2_ENST00000406622.1_Intron|DNAL4_ENST00000486019.1_Intron|DNAL4_ENST00000406199.3_Nonsense_Mutation_p.E51*	NM_005740.2	NP_005731.1	O96015	DNAL4_HUMAN	dynein, axonemal, light chain 4	51					microtubule-based process (GO:0007017)|neurotrophin TRK receptor signaling pathway (GO:0048011)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	motor activity (GO:0003774)			lung(1)|skin(1)	2	Melanoma(58;0.04)					GGCAATACCTCGTTGTTGTTG	0.572																																						ENST00000216068.4																			0				lung(1)|skin(1)	2						c.(151-153)Gag>Tag		dynein, axonemal, light chain 4							131.0	104.0	113.0					22																	39176933		2203	4300	6503	SO:0001587	stop_gained	10126				microtubule-based movement|nerve growth factor receptor signaling pathway	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|plasma membrane	ATPase activity, coupled|microtubule motor activity	g.chr22:39176933C>A	AL035366	CCDS13979.1	22q13.1	2008-06-10	2006-09-04		ENSG00000100246	ENSG00000100246		"""Axonemal dyneins"""	2955	protein-coding gene	gene with protein product		610565	"""dynein, axonemal, light polypeptide 4"", ""dynein, axonemal, light 4"""			10591208	Standard	NM_005740		Approved	dJ327J16, PIG27	uc003awj.3	O96015	OTTHUMG00000151025	ENST00000216068.4:c.151G>T	22.37:g.39176933C>A	ENSP00000216068:p.Glu51*					DNAL4_ENST00000486019.1_Intron|DNAL4_ENST00000406199.3_Nonsense_Mutation_p.E51*|SUN2_ENST00000406622.1_Intron	p.E51*	NM_005740.2	NP_005731.1	O96015	DNAL4_HUMAN			3	395	-	Melanoma(58;0.04)		51					Q6FGB2|Q6FGD0	Nonsense_Mutation	SNP	ENST00000216068.4	37	c.151G>T	CCDS13979.1	.	.	.	.	.	.	.	.	.	.	C	37	6.575273	0.97676	.	.	ENSG00000100246	ENST00000216068;ENST00000406199	.	.	.	5.21	5.21	0.72293	.	0.109683	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.7665	0.91874	0.0:1.0:0.0:0.0	.	.	.	.	X	51	.	ENSP00000216068:E51X	E	-	1	0	DNAL4	37506879	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.464000	0.80887	2.428000	0.82296	0.561000	0.74099	GAG		0.572	DNAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321032.1	NM_005740		13	40	1	0	2.27111e-07	1	2.33167e-07	13	40				
SLC12A1	6557	broad.mit.edu	37	15	48566825	48566825	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr15:48566825C>G	ENST00000558405.1	+	19	2474	c.2460C>G	c.(2458-2460)gaC>gaG	p.D820E	SLC12A1_ENST00000396577.3_Missense_Mutation_p.D820E|SLC12A1_ENST00000380993.3_Missense_Mutation_p.D820E			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	820					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	AAGGATTTGACATCTCTCAGG	0.393																																						ENST00000396577.3																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59						c.(2458-2460)gaC>gaG		solute carrier family 12 (sodium/potassium/chloride transporter), member 1	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)						134.0	117.0	123.0					15																	48566825		2198	4297	6495	SO:0001583	missense	6557				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	g.chr15:48566825C>G		CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.2460C>G	15.37:g.48566825C>G	ENSP00000453409:p.Asp820Glu					SLC12A1_ENST00000558405.1_Missense_Mutation_p.D820E|SLC12A1_ENST00000380993.3_Missense_Mutation_p.D820E	p.D820E	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	20	2675	+		all_lung(180;0.00219)	820					A8JYA2|E9PDW4	Missense_Mutation	SNP	ENST00000558405.1	37	c.2460C>G	CCDS10129.2	.	.	.	.	.	.	.	.	.	.	C	15.94	2.980378	0.53827	.	.	ENSG00000074803	ENST00000380993;ENST00000396577	D;D	0.93811	-3.29;-3.29	5.9	3.77	0.43336	.	0.149916	0.56097	D	0.000026	D	0.93148	0.7818	M	0.70108	2.13	0.44685	D	0.997677	P;P	0.45474	0.77;0.859	B;P	0.48488	0.285;0.579	D	0.92621	0.6108	10	0.87932	D	0	.	8.7163	0.34414	0.0:0.668:0.0:0.332	.	820;820	E9PDW4;Q13621	.;S12A1_HUMAN	E	820	ENSP00000370381:D820E;ENSP00000379822:D820E	ENSP00000370381:D820E	D	+	3	2	SLC12A1	46354117	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	0.332000	0.19751	1.249000	0.43950	0.591000	0.81541	GAC		0.393	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1			13	19	0	0	0	1	0	13	19				
ESD	2098	broad.mit.edu	37	13	47356861	47356861	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr13:47356861C>T	ENST00000378720.3	-	6	504	c.322G>A	c.(322-324)Gat>Aat	p.D108N	ESD_ENST00000378697.1_Missense_Mutation_p.D79N|ESD_ENST00000495654.1_5'UTR	NM_001984.1	NP_001975.1	P10768	ESTD_HUMAN	esterase D	108					formaldehyde catabolic process (GO:0046294)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carboxylic ester hydrolase activity (GO:0052689)|hydrolase activity, acting on ester bonds (GO:0016788)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)|S-formylglutathione hydrolase activity (GO:0018738)			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	9		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;2.66e-05)	Glutathione(DB00143)	TCAGTGGCATCAACATAAAAT	0.383																																						ENST00000378720.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	9						c.(322-324)Gat>Aat		esterase D	Glutathione(DB00143)						148.0	148.0	148.0					13																	47356861		2203	4299	6502	SO:0001583	missense	2098					cytoplasmic membrane-bounded vesicle	carboxylesterase activity|S-formylglutathione hydrolase activity	g.chr13:47356861C>T	M13450	CCDS9404.1	13q14.1-q14.2	2014-05-13	2010-05-07		ENSG00000139684	ENSG00000139684	3.1.2.12		3465	protein-coding gene	gene with protein product	"""S-formylglutathione hydrolase"""	133280	"""esterase D/formylglutathione hydrolase"""				Standard	NM_001984		Approved		uc001vbn.3	P10768	OTTHUMG00000016878	ENST00000378720.3:c.322G>A	13.37:g.47356861C>T	ENSP00000367992:p.Asp108Asn					ESD_ENST00000378697.1_Missense_Mutation_p.D79N|ESD_ENST00000495654.1_5'UTR	p.D108N	NM_001984.1	NP_001975.1	P10768	ESTD_HUMAN		GBM - Glioblastoma multiforme(144;2.66e-05)	6	504	-		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	108					Q5TBU8|Q5TBV0|Q5TBV2|Q9BVJ2	Missense_Mutation	SNP	ENST00000378720.3	37	c.322G>A	CCDS9404.1	.	.	.	.	.	.	.	.	.	.	C	4.951	0.176657	0.09443	.	.	ENSG00000139684	ENST00000378720;ENST00000378697	T;T	0.27402	1.67;1.67	6.02	3.85	0.44370	.	0.263104	0.44285	N	0.000478	T	0.13586	0.0329	N	0.11131	0.1	0.43126	D	0.994855	B	0.06786	0.001	B	0.24848	0.056	T	0.11155	-1.0599	10	0.02654	T	1	-18.3573	8.3059	0.32042	0.0:0.6809:0.0:0.3191	.	108	P10768	ESTD_HUMAN	N	108;79	ENSP00000367992:D108N;ENSP00000367969:D79N	ENSP00000367969:D79N	D	-	1	0	ESD	46254862	0.973000	0.33851	1.000000	0.80357	0.802000	0.45316	0.961000	0.29267	1.417000	0.47077	0.650000	0.86243	GAT		0.383	ESD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044826.1			32	77	0	0	0	1	0	32	77				
GML	2765	broad.mit.edu	37	8	143927842	143927842	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr8:143927842G>C	ENST00000220940.1	+	4	303	c.213G>C	c.(211-213)aaG>aaC	p.K71N		NM_002066.2	NP_002057.1	Q99445	GML_HUMAN	glycosylphosphatidylinositol anchored molecule like	71	UPAR/Ly6.				apoptotic process (GO:0006915)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|negative regulation of cell proliferation (GO:0008285)	anchored component of membrane (GO:0031225)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TTGTTTATAAGAACTGTACAA	0.348																																						ENST00000220940.1																			0				NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18						c.(211-213)aaG>aaC		glycosylphosphatidylinositol anchored molecule like							49.0	52.0	51.0					8																	143927842		2203	4300	6503	SO:0001583	missense	2765				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation	anchored to membrane|extrinsic to membrane|plasma membrane		g.chr8:143927842G>C	D84290	CCDS6391.1	8q24.3	2014-05-14	2012-11-02						4375	protein-coding gene	gene with protein product		602370	"""GPI anchored molecule like protein"", ""glycosylphosphatidylinositol anchored molecule like protein"""			8934543, 9169150	Standard	NM_002066		Approved	LY6DL	uc003yxg.3	Q99445		ENST00000220940.1:c.213G>C	8.37:g.143927842G>C	ENSP00000220940:p.Lys71Asn						p.K71N	NM_002066.2	NP_002057.1	Q99445	GML_HUMAN			4	303	+	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		71			UPAR/Ly6.		A0AVF6|O00686|O00731	Missense_Mutation	SNP	ENST00000220940.1	37	c.213G>C	CCDS6391.1	.	.	.	.	.	.	.	.	.	.	N	14.00	2.405158	0.42613	.	.	ENSG00000104499	ENST00000220940	T	0.25579	1.79	3.52	1.65	0.23941	Ly-6 antigen / uPA receptor -like (1);CD59 antigen, conserved site (1);	0.000000	0.43919	D	0.000507	T	0.37544	0.1007	M	0.63843	1.955	0.30502	N	0.770301	D	0.71674	0.998	D	0.64321	0.924	T	0.32455	-0.9906	10	0.87932	D	0	-36.6285	4.4178	0.11465	0.1196:0.0:0.6608:0.2196	.	71	Q99445	GML_HUMAN	N	71	ENSP00000220940:K71N	ENSP00000220940:K71N	K	+	3	2	GML	143924844	0.963000	0.33076	0.805000	0.32314	0.002000	0.02628	0.598000	0.24074	0.453000	0.26858	-0.321000	0.08615	AAG		0.348	GML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379659.1	NM_002066		23	50	0	0	0	1	0	23	50				
L3MBTL1	26013	broad.mit.edu	37	20	42169752	42169752	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr20:42169752G>T	ENST00000427442.2	+	22	2666	c.2507G>T	c.(2506-2508)aGt>aTt	p.S836I	L3MBTL1_ENST00000373134.1_3'UTR|L3MBTL1_ENST00000444063.1_3'UTR|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.S836I|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.S768I			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	0					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of mitosis (GO:0007088)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|nucleosome binding (GO:0031491)|SAM domain binding (GO:0032093)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						AGCTTTGCCAGTGATAGTCAA	0.378																																						ENST00000373135.3																			0				breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						c.(2302-2304)aGt>aTt		l(3)mbt-like 1 (Drosophila)							182.0	161.0	168.0					20																	42169752		2203	4300	6503	SO:0001583	missense	26013				chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:42169752G>T	U89358	CCDS13319.1, CCDS46602.1, CCDS46602.2	20q13.12	2013-01-10	2010-09-03	2010-09-03	ENSG00000185513	ENSG00000185513		"""Zinc fingers, C2HC-type containing"", ""Sterile alpha motif (SAM) domain containing"""	15905	protein-coding gene	gene with protein product	"""lethal (3) malignant brain tumor l(3)"""	608802	"""l(3)mbt (Drosophila)-like"", ""l(3)mbt-like (Drosophila)"""	L3MBTL		10445843, 17540172	Standard	NM_032107		Approved	ZC2HC3, dJ138B7.3, DKFZp586P1522, KIAA0681	uc010zwh.2	Q9Y468	OTTHUMG00000032503	ENST00000427442.2:c.2507G>T	20.37:g.42169752G>T	ENSP00000402107:p.Ser836Ile					L3MBTL1_ENST00000444063.1_3'UTR|L3MBTL1_ENST00000427442.2_Missense_Mutation_p.S836I|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.S836I|L3MBTL1_ENST00000373134.1_3'UTR	p.S768I	NM_015478.6	NP_056293.4	Q9Y468	LMBL1_HUMAN			19	2435	+			0					B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	Missense_Mutation	SNP	ENST00000427442.2	37	c.2303G>T	CCDS46602.2	.	.	.	.	.	.	.	.	.	.	G	12.35	1.911186	0.33721	.	.	ENSG00000185513	ENST00000427442;ENST00000418998;ENST00000373135	T;T;T	0.30714	1.56;1.56;1.52	2.64	-4.5	0.03493	.	3.115060	0.01013	N	0.003872	T	0.15998	0.0385	N	0.08118	0	0.09310	N	1	B;B;B	0.21309	0.022;0.022;0.054	B;B;B	0.21360	0.034;0.025;0.034	T	0.28138	-1.0053	10	0.87932	D	0	.	5.448	0.16546	0.2395:0.4956:0.2649:0.0	.	836;156;768	Q9Y468-5;Q6ZWF5;Q9Y468-1	.;.;.	I	836;836;768	ENSP00000402107:S836I;ENSP00000398516:S836I;ENSP00000362227:S768I	ENSP00000362227:S768I	S	+	2	0	L3MBTL1	41603166	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.233000	0.09041	-1.038000	0.03279	0.557000	0.71058	AGT		0.378	L3MBTL1-007	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079300.3	NM_032107		35	77	1	0	2.42023e-17	1	2.60185e-17	35	77				
PZP	5858	broad.mit.edu	37	12	9303306	9303306	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:9303306G>A	ENST00000261336.2	-	34	4346	c.4318C>T	c.(4318-4320)Ctg>Ttg	p.L1440L	PZP_ENST00000381997.2_Silent_p.L1226L	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	1440					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						ATGTCTTGCAGAACCATGAAG	0.393																																					Melanoma(125;1402 1695 4685 34487 38571)	ENST00000261336.2																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						c.(4318-4320)Ctg>Ttg		pregnancy-zone protein							121.0	115.0	117.0					12																	9303306		2203	4300	6503	SO:0001819	synonymous_variant	5858							g.chr12:9303306G>A	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.4318C>T	12.37:g.9303306G>A						PZP_ENST00000381997.2_Silent_p.L1226L	p.L1440L	NM_002864.2	NP_002855.2					34	4346	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Silent	SNP	ENST00000261336.2	37	c.4318C>T	CCDS8600.1																																																																																				0.393	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		22	59	0	0	0	1	0	22	59				
MYH13	8735	broad.mit.edu	37	17	10223795	10223795	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:10223795G>T	ENST00000418404.3	-	24	3293	c.3130C>A	c.(3130-3132)Cag>Aag	p.Q1044K	RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.Q1044K|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1044					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TTCTTCTCCTGCTCTAAGGAA	0.493																																						ENST00000418404.3																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(3130-3132)Cag>Aag		myosin, heavy chain 13, skeletal muscle							49.0	46.0	47.0					17																	10223795		1839	4089	5928	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10223795G>T	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.3130C>A	17.37:g.10223795G>T	ENSP00000404570:p.Gln1044Lys					MYH13_ENST00000570743.1_Missense_Mutation_p.Q1044K|MYH13_ENST00000252172.4_Missense_Mutation_p.Q1044K|RP11-401O9.3_ENST00000577743.1_RNA	p.Q1044K			Q9UKX3	MYH13_HUMAN			24	3293	-			1044					O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.3130C>A	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341018	0.60963	.	.	ENSG00000006788	ENST00000252172	D	0.95307	-3.67	3.78	3.78	0.43462	.	.	.	.	.	D	0.92844	0.7724	L	0.50993	1.605	0.45076	D	0.998097	B	0.21753	0.06	B	0.29176	0.099	D	0.91869	0.5506	9	0.66056	D	0.02	.	16.1667	0.81768	0.0:0.0:1.0:0.0	.	1044	Q9UKX3	MYH13_HUMAN	K	1044	ENSP00000252172:Q1044K	ENSP00000252172:Q1044K	Q	-	1	0	MYH13	10164520	1.000000	0.71417	1.000000	0.80357	0.181000	0.23173	9.453000	0.97619	2.102000	0.63906	0.655000	0.94253	CAG		0.493	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		7	17	1	0	0.00198382	1	0.00200005	7	17				
FAM120C	54954	broad.mit.edu	37	X	54099642	54099642	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:54099642C>T	ENST00000375180.2	-	16	3171	c.3115G>A	c.(3115-3117)Gca>Aca	p.A1039T	FAM120C_ENST00000328235.4_3'UTR	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	1039							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TTGATCAATGCGCCACTGTTT	0.458																																						ENST00000375180.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(3115-3117)Gca>Aca		family with sequence similarity 120C							159.0	118.0	132.0					X																	54099642		2203	4300	6503	SO:0001583	missense	54954							g.chrX:54099642C>T	AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"""chromosome X open reading frame 17"""	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.3115G>A	X.37:g.54099642C>T	ENSP00000364324:p.Ala1039Thr					FAM120C_ENST00000328235.4_3'UTR	p.A1039T	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN			16	3171	-			1039					B2RMT7	Missense_Mutation	SNP	ENST00000375180.2	37	c.3115G>A	CCDS14356.1	.	.	.	.	.	.	.	.	.	.	C	3.163	-0.171596	0.06421	.	.	ENSG00000184083	ENST00000375180	T	0.21191	2.02	5.27	2.9	0.33743	.	0.758277	0.11999	N	0.509053	T	0.07324	0.0185	N	0.03608	-0.345	0.80722	D	1	B	0.10296	0.003	B	0.06405	0.002	T	0.30090	-0.9990	10	0.02654	T	1	-1.2265	6.798	0.23736	0.0:0.1992:0.0:0.8008	.	1039	Q9NX05	F120C_HUMAN	T	1039	ENSP00000364324:A1039T	ENSP00000364324:A1039T	A	-	1	0	FAM120C	54116367	0.999000	0.42202	0.998000	0.56505	0.836000	0.47400	1.077000	0.30741	0.211000	0.20683	-0.395000	0.06472	GCA		0.458	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056795.2	NM_017848		18	64	0	0	0	1	0	18	64				
ANKHD1	54882	broad.mit.edu	37	5	139781638	139781638	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:139781638C>T	ENST00000360839.2	+	1	240	c.86C>T	c.(85-87)tCg>tTg	p.S29L	ANKHD1_ENST00000394722.3_Missense_Mutation_p.S29L|ANKHD1_ENST00000297183.6_Missense_Mutation_p.S29L|CTC-329D1.2_ENST00000507521.1_RNA|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.S29L|ANKHD1_ENST00000394723.3_Missense_Mutation_p.S29L	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	29	Gly-rich.					cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGGGCCTCGGAGCCGCCT	0.726																																						ENST00000297183.6																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60						c.(85-87)tCg>tTg		ankyrin repeat and KH domain containing 1							6.0	9.0	8.0					5																	139781638		1904	3996	5900	SO:0001583	missense	54882							g.chr5:139781638C>T	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.86C>T	5.37:g.139781638C>T	ENSP00000354085:p.Ser29Leu					ANKHD1_ENST00000360839.2_Missense_Mutation_p.S29L|ANKHD1_ENST00000394722.3_Missense_Mutation_p.S29L|ANKHD1_ENST00000394723.3_Missense_Mutation_p.S29L|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.S29L	p.S29L	NM_020690.5	NP_065741.3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	210	+								A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	c.86C>T	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.769739	0.49680	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000421134;ENST00000394723;ENST00000511151;ENST00000394722;ENST00000532219	T;T;T;T;T;T;T	0.67523	-0.16;-0.21;-0.13;-0.03;-0.27;-0.06;-0.21	5.3	2.61	0.31194	.	0.521066	0.18776	N	0.131471	T	0.41259	0.1151	N	0.08118	0	0.24451	N	0.99449	B;B;B;B;B	0.12013	0.0;0.005;0.005;0.0;0.0	B;B;B;B;B	0.06405	0.001;0.002;0.001;0.001;0.001	T	0.23904	-1.0175	10	0.41790	T	0.15	.	5.9207	0.19080	0.0:0.6328:0.1378:0.2294	.	29;29;29;29;29	Q8IWZ3-5;Q8IWZ2;Q8IWZ3;Q8IWZ3-3;Q8IWZ3-2	.;.;ANKH1_HUMAN;.;.	L	29;43;29;29;29;29;29;29;29	ENSP00000354085:S29L;ENSP00000297183:S29L;ENSP00000394489:S29L;ENSP00000378212:S29L;ENSP00000421069:S29L;ENSP00000378211:S29L;ENSP00000432016:S29L	ENSP00000432016:S29L	S	+	2	0	ANKHD1-EIF4EBP3;ANKHD1	139761822	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	1.605000	0.36815	0.404000	0.25506	0.561000	0.74099	TCG		0.726	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		7	27	0	0	0	1	0	7	27				
FAM179B	23116	broad.mit.edu	37	14	45542754	45542754	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr14:45542754A>G	ENST00000361577.3	+	19	5367	c.5153A>G	c.(5152-5154)aAt>aGt	p.N1718S	FAM179B_ENST00000382233.2_3'UTR|FAM179B_ENST00000361462.2_Missense_Mutation_p.N1771S	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1718										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						ACAATTTTAAATGAATTATGA	0.338																																						ENST00000361462.2																			0				endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						c.(5311-5313)aAt>aGt		family with sequence similarity 179, member B							44.0	44.0	44.0					14																	45542754		2203	4300	6503	SO:0001583	missense	23116						binding	g.chr14:45542754A>G	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.5153A>G	14.37:g.45542754A>G	ENSP00000355045:p.Asn1718Ser					FAM179B_ENST00000382233.2_3'UTR|FAM179B_ENST00000361577.3_Missense_Mutation_p.N1718S	p.N1771S			Q9Y4F4	F179B_HUMAN			20	5495	+			1718					Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	c.5312A>G	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	A	0.428	-0.904712	0.02453	.	.	ENSG00000198718	ENST00000361577;ENST00000361462;ENST00000556823	T;T;T	0.27720	2.73;2.83;1.65	5.93	3.59	0.41128	.	0.585081	0.16590	N	0.207803	T	0.13243	0.0321	N	0.08118	0	0.80722	D	1	B;B	0.10296	0.003;0.003	B;B	0.09377	0.004;0.004	T	0.09185	-1.0686	10	0.11794	T	0.64	0.0533	6.9952	0.24779	0.8173:0.0:0.1827:0.0	.	1771;1718	G3XAE9;Q9Y4F4	.;F179B_HUMAN	S	1718;1771;153	ENSP00000355045:N1718S;ENSP00000354917:N1771S;ENSP00000450465:N153S	ENSP00000354917:N1771S	N	+	2	0	FAM179B	44612504	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	2.025000	0.41059	0.508000	0.28173	0.533000	0.62120	AAT		0.338	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		10	13	0	0	0	1	0	10	13				
SIX4	51804	broad.mit.edu	37	14	61190283	61190283	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr14:61190283C>G	ENST00000216513.4	-	1	569	c.510G>C	c.(508-510)gaG>gaC	p.E170D		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	170					anatomical structure morphogenesis (GO:0009653)|embryonic cranial skeleton morphogenesis (GO:0048701)|generation of neurons (GO:0048699)|inner ear morphogenesis (GO:0042472)|metanephric mesenchyme development (GO:0072075)|myoblast migration (GO:0051451)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		AGCTGTGGCTCTCGAGGATGC	0.692																																						ENST00000216513.4																			0				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(508-510)gaG>gaC		SIX homeobox 4							12.0	14.0	13.0					14																	61190283		2189	4279	6468	SO:0001583	missense	51804					nucleus		g.chr14:61190283C>G	AB024687	CCDS9749.2	14q23.1	2012-10-02	2007-07-13		ENSG00000100625	ENSG00000100625		"""Homeoboxes / SINE class"""	10890	protein-coding gene	gene with protein product		606342	"""sine oculis homeobox (Drosophila) homolog 4"", ""sine oculis homeobox homolog 4 (Drosophila)"""			10512683, 10640827	Standard	NM_017420		Approved	AREC3	uc001xfc.3	Q9UIU6	OTTHUMG00000028996	ENST00000216513.4:c.510G>C	14.37:g.61190283C>G	ENSP00000216513:p.Glu170Asp						p.E170D	NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0275)	1	569	-			170					Q4QQH5|Q4V764	Missense_Mutation	SNP	ENST00000216513.4	37	c.510G>C	CCDS9749.2	.	.	.	.	.	.	.	.	.	.	C	23.9	4.470930	0.84533	.	.	ENSG00000100625	ENST00000216513;ENST00000556952	D	0.93426	-3.22	3.63	3.63	0.41609	.	0.251845	0.39341	N	0.001398	D	0.95481	0.8532	M	0.62154	1.92	0.80722	D	1	D;B	0.64830	0.994;0.409	D;B	0.68765	0.96;0.336	D	0.95565	0.8633	10	0.52906	T	0.07	.	15.4877	0.75578	0.0:1.0:0.0:0.0	.	162;170	G3V2N2;Q9UIU6	.;SIX4_HUMAN	D	170;162	ENSP00000216513:E170D	ENSP00000216513:E170D	E	-	3	2	SIX4	60260036	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.726000	0.54977	1.849000	0.53698	0.650000	0.86243	GAG		0.692	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072397.2			14	13	0	0	0	1	0	14	13				
BTD	686	broad.mit.edu	37	3	15686777	15686777	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:15686777G>T	ENST00000303498.5	+	4	1523	c.1414G>T	c.(1414-1416)Gga>Tga	p.G472*	BTD_ENST00000383778.4_Nonsense_Mutation_p.G452*|BTD_ENST00000437172.1_Nonsense_Mutation_p.G474*|BTD_ENST00000449107.1_Nonsense_Mutation_p.G474*	NM_000060.2|NM_001281723.1	NP_000051.1|NP_001268652.1	P43251	BTD_HUMAN	biotinidase	472					biotin metabolic process (GO:0006768)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleolus (GO:0005730)|perikaryon (GO:0043204)	biotin carboxylase activity (GO:0004075)|biotinidase activity (GO:0047708)			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						CGACACCTGTGGACAGGAAAT	0.517																																						ENST00000383778.4																			0				breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						c.(1354-1356)Gga>Tga		biotinidase							97.0	102.0	100.0					3																	15686777		2203	4300	6503	SO:0001587	stop_gained	686				central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity	g.chr3:15686777G>T	AF018631	CCDS2628.1, CCDS63563.1, CCDS63564.1, CCDS63565.1	3p25	2007-03-26			ENSG00000169814	ENSG00000169814	3.5.1.12		1122	protein-coding gene	gene with protein product		609019				8001986	Standard	NM_001281723		Approved		uc003cah.3	P43251	OTTHUMG00000129861	ENST00000303498.5:c.1414G>T	3.37:g.15686777G>T	ENSP00000306477:p.Gly472*					BTD_ENST00000449107.1_Nonsense_Mutation_p.G474*|BTD_ENST00000303498.5_Nonsense_Mutation_p.G472*|BTD_ENST00000437172.1_Nonsense_Mutation_p.G474*	p.G452*			P43251	BTD_HUMAN			4	1712	+			472					A6NHF2|B2R865|B4DFX1|B4DLJ9|B7Z7C9|F8W1Q3|Q96EM9	Nonsense_Mutation	SNP	ENST00000303498.5	37	c.1354G>T	CCDS2628.1	.	.	.	.	.	.	.	.	.	.	G	39	7.469184	0.98302	.	.	ENSG00000169814	ENST00000449107;ENST00000303498;ENST00000437172;ENST00000383778	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-44.0343	19.5597	0.95367	0.0:0.0:1.0:0.0	.	.	.	.	X	474;472;474;452	.	ENSP00000306477:G472X	G	+	1	0	BTD	15661781	1.000000	0.71417	0.994000	0.49952	0.774000	0.43823	7.739000	0.84976	2.641000	0.89580	0.561000	0.74099	GGA		0.517	BTD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252103.2	NM_000060		34	91	1	0	9.04072e-19	1	9.75321e-19	34	91				
CLSTN1	22883	broad.mit.edu	37	1	9791371	9791371	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:9791371G>A	ENST00000377298.4	-	18	3433	c.2641C>T	c.(2641-2643)Cgg>Tgg	p.R881W	CLSTN1_ENST00000377288.3_Missense_Mutation_p.R862W|CLSTN1_ENST00000361311.4_Missense_Mutation_p.R871W|CLSTN1_ENST00000477264.1_5'UTR	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	881					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		GCCCGGATCCGAAATACCCCC	0.612																																						ENST00000377298.4																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						c.(2641-2643)Cgg>Tgg		calsyntenin 1							127.0	110.0	116.0					1																	9791371		2203	4300	6503	SO:0001583	missense	22883				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding	g.chr1:9791371G>A	AB020718	CCDS105.1, CCDS30580.1	1p36.22	2011-07-01			ENSG00000171603	ENSG00000171603		"""Cadherins / Cadherin-related"""	17447	protein-coding gene	gene with protein product	"""cadherin-related family member 12"""	611321				10048485	Standard	XM_005263432		Approved	CSTN1, KIAA0911, CDHR12	uc001aqh.3	O94985	OTTHUMG00000001451	ENST00000377298.4:c.2641C>T	1.37:g.9791371G>A	ENSP00000366513:p.Arg881Trp					CLSTN1_ENST00000361311.4_Missense_Mutation_p.R871W|CLSTN1_ENST00000377288.3_Missense_Mutation_p.R862W|CLSTN1_ENST00000477264.1_5'UTR	p.R881W	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)	18	3433	-	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	881					A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Missense_Mutation	SNP	ENST00000377298.4	37	c.2641C>T	CCDS30580.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.576616	0.86645	.	.	ENSG00000171603	ENST00000377298;ENST00000361311;ENST00000435891;ENST00000377288;ENST00000539822	T;T;T;T	0.39406	1.08;1.08;1.08;1.08	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.66684	0.2814	M	0.81802	2.56	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.997;0.999	T	0.71417	-0.4599	10	0.87932	D	0	-33.369	15.314	0.74059	0.0:0.0:0.8598:0.1402	.	862;871;881;236	B4E3Q1;O94985-2;O94985;B3KMD3	.;.;CSTN1_HUMAN;.	W	881;871;682;862;862	ENSP00000366513:R881W;ENSP00000354997:R871W;ENSP00000401934:R682W;ENSP00000366502:R862W	ENSP00000354997:R871W	R	-	1	2	CLSTN1	9713958	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	6.562000	0.73960	2.467000	0.83353	0.655000	0.94253	CGG		0.612	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004239.1			28	90	0	0	0	1	0	28	90				
LRRTM1	347730	broad.mit.edu	37	2	80529877	80529877	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:80529877G>A	ENST00000295057.3	-	2	1724	c.1068C>T	c.(1066-1068)gcC>gcT	p.A356A	CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000496558.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.A356A|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	356	LRRCT.				exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						AGGCGTACACGGCGTCCAGGA	0.682										HNSCC(69;0.2)																												ENST00000295057.3																			0				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						c.(1066-1068)gcC>gcT		leucine rich repeat transmembrane neuronal 1							20.0	19.0	19.0					2																	80529877		2202	4300	6502	SO:0001819	synonymous_variant	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80529877G>A	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.1068C>T	2.37:g.80529877G>A		HNSCC(69;0.2)				CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000496558.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.A356A|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000541047.1_Intron	p.A356A	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN			2	1724	-			356			LRRCT.		A8K397|D6W5K1|Q96DN1	Silent	SNP	ENST00000295057.3	37	c.1068C>T	CCDS1966.1																																																																																				0.682	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		6	28	0	0	0	1	0	6	28				
PGM5	5239	broad.mit.edu	37	9	71002428	71002428	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr9:71002428C>G	ENST00000396396.1	+	4	850	c.621C>G	c.(619-621)atC>atG	p.I207M	PGM5_ENST00000396392.1_Missense_Mutation_p.I207M|PGM5_ENST00000604870.2_3'UTR	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	207					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						TTCGGACCATCTTTGACTTTC	0.428																																						ENST00000396396.1																			0				endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						c.(619-621)atC>atG		phosphoglucomutase 5							139.0	132.0	135.0					9																	71002428		2203	4299	6502	SO:0001583	missense	5239				cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity	g.chr9:71002428C>G	L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"""phosphoglucomutase-related protein"""	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.621C>G	9.37:g.71002428C>G	ENSP00000379678:p.Ile207Met					PGM5_ENST00000396392.1_Missense_Mutation_p.I207M|PGM5_ENST00000604870.2_3'UTR	p.I207M	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN			4	850	+			207					B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Missense_Mutation	SNP	ENST00000396396.1	37	c.621C>G	CCDS6622.2	.	.	.	.	.	.	.	.	.	.	.	11.41	1.629611	0.28978	.	.	ENSG00000154330	ENST00000396396;ENST00000396392;ENST00000377314;ENST00000431583	T;T;T	0.64618	-0.11;-0.11;-0.03	5.16	1.23	0.21249	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);Alpha-D-phosphohexomutase, alpha/beta/alpha domain II (1);	0.122835	0.56097	U	0.000034	T	0.76176	0.3951	M	0.91459	3.21	0.58432	D	0.999994	D	0.56746	0.977	D	0.67382	0.951	T	0.70970	-0.4727	10	0.87932	D	0	.	2.0102	0.03486	0.1384:0.4966:0.1344:0.2307	.	207	Q15124	PGM5_HUMAN	M	207;207;158;124	ENSP00000379678:I207M;ENSP00000379674:I207M;ENSP00000394864:I124M	ENSP00000366531:I158M	I	+	3	3	PGM5	70192248	0.999000	0.42202	0.780000	0.31762	0.076000	0.17211	0.727000	0.25999	-0.036000	0.13669	-0.322000	0.08575	ATC		0.428	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052548.2	NM_021965		31	101	0	0	0	1	0	31	101				
OLIG1	116448	broad.mit.edu	37	21	34442897	34442897	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr21:34442897G>A	ENST00000382348.1	+	1	448	c.345G>A	c.(343-345)cgG>cgA	p.R115R	AP000282.2_ENST00000454622.1_RNA|AP000282.2_ENST00000420356.1_RNA|OLIG1_ENST00000333063.5_Silent_p.R99R	NM_138983.2	NP_620450.2	Q8TAK6	OLIG1_HUMAN	oligodendrocyte transcription factor 1	115	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				neuron fate commitment (GO:0048663)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)	1						GCCGCGAGCGGAAGCGCATGC	0.741																																						ENST00000382348.1																			0				central_nervous_system(1)	1						c.(343-345)cgG>cgA		oligodendrocyte transcription factor 1							8.0	11.0	10.0					21																	34442897		2109	4197	6306	SO:0001819	synonymous_variant	116448				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr21:34442897G>A	AP000109	CCDS42920.1, CCDS42920.2	21q22.11	2013-05-21			ENSG00000184221	ENSG00000184221		"""Basic helix-loop-helix proteins"""	16983	protein-coding gene	gene with protein product	"""oligodendrocyte-specific bHLH transcription factor 1"", ""oligodendrocyte lineage transcription factor 1"", ""basic domain, helix-loop-helix protein, class B, 6"""	606385				11526205	Standard	NM_138983		Approved	BHLHB6, bHLHe21	uc002yqz.3	Q8TAK6	OTTHUMG00000065064	ENST00000382348.1:c.345G>A	21.37:g.34442897G>A						AP000282.2_ENST00000420356.1_RNA|AP000282.2_ENST00000454622.1_RNA|OLIG1_ENST00000333063.5_Silent_p.R99R	p.R115R	NM_138983.2	NP_620450.2	Q8TAK6	OLIG1_HUMAN			1	448	+			115					Q7RTS0	Silent	SNP	ENST00000382348.1	37	c.345G>A	CCDS42920.2																																																																																				0.741	OLIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139730.1	NM_138983		5	19	0	0	0	1	0	5	19				
VCAM1	7412	broad.mit.edu	37	1	101198225	101198225	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:101198225G>A	ENST00000294728.2	+	7	1878	c.1777G>A	c.(1777-1779)Gaa>Aaa	p.E593K	VCAM1_ENST00000370119.4_Missense_Mutation_p.E531K|VCAM1_ENST00000347652.2_Missense_Mutation_p.E501K|VCAM1_ENST00000370115.1_Missense_Mutation_p.E394K	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	593	Ig-like C2-type 6.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	AAAGGAAGTGGAATTAATTAT	0.348																																						ENST00000294728.2																			0				central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1777-1779)Gaa>Aaa		vascular cell adhesion molecule 1	Carvedilol(DB01136)						78.0	83.0	82.0					1																	101198225		2189	4296	6485	SO:0001583	missense	7412				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	g.chr1:101198225G>A	M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.1777G>A	1.37:g.101198225G>A	ENSP00000294728:p.Glu593Lys					VCAM1_ENST00000347652.2_Missense_Mutation_p.E501K|VCAM1_ENST00000370115.1_Missense_Mutation_p.E394K|VCAM1_ENST00000370119.4_Missense_Mutation_p.E531K	p.E593K	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	7	1878	+		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)	593			Ig-like C2-type 6.		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	SNP	ENST00000294728.2	37	c.1777G>A	CCDS773.1	.	.	.	.	.	.	.	.	.	.	G	7.501	0.652731	0.14580	.	.	ENSG00000162692	ENST00000370119;ENST00000347652;ENST00000294728;ENST00000370115	T;T;T;T	0.13420	2.59;2.59;2.59;2.59	5.57	1.56	0.23342	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.880885	0.10236	N	0.699096	T	0.05181	0.0138	L	0.34521	1.04	0.18873	N	0.999985	P;B;P	0.49862	0.775;0.22;0.929	P;B;P	0.56648	0.61;0.219;0.803	T	0.10245	-1.0638	10	0.06236	T	0.91	-5.6709	5.9077	0.19010	0.2926:0.1281:0.5793:0.0	.	531;501;593	E9PDD1;P19320-2;P19320	.;.;VCAM1_HUMAN	K	531;501;593;394	ENSP00000359137:E531K;ENSP00000304611:E501K;ENSP00000294728:E593K;ENSP00000359133:E394K	ENSP00000294728:E593K	E	+	1	0	VCAM1	100970813	0.287000	0.24315	0.176000	0.23000	0.127000	0.20565	0.446000	0.21694	0.105000	0.17753	-0.150000	0.13652	GAA		0.348	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078		32	106	0	0	0	1	0	32	106				
SATL1	340562	broad.mit.edu	37	X	84363898	84363898	+	5'UTR	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:84363898G>C	ENST00000395409.3	-	0	76				SATL1_ENST00000332921.5_5'UTR|SATL1_ENST00000509231.1_Nonsense_Mutation_p.S26*			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1								N-acetyltransferase activity (GO:0008080)			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						CATACCAAGTGAGTTTGTGCT	0.458											OREG0019887	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000509231.1																			0				NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						c.(76-78)tCa>tGa		spermidine/spermine N1-acetyl transferase-like 1							381.0	237.0	280.0					X																	84363898		692	1591	2283	SO:0001623	5_prime_UTR_variant	340562						N-acetyltransferase activity	g.chrX:84363898G>C	BC043215	CCDS35343.1, CCDS35343.2	Xq21	2008-02-05			ENSG00000184788	ENSG00000184788			27992	protein-coding gene	gene with protein product						12477932	Standard	NM_001012980		Approved		uc004een.3	Q86VE3	OTTHUMG00000021931	ENST00000395409.3:c.-485C>G	X.37:g.84363898G>C			OREG0019887	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1228	SATL1_ENST00000395409.3_5'UTR|SATL1_ENST00000332921.5_5'UTR	p.S26*			Q86VE3	SATL1_HUMAN			1	156	-			81			Gln-rich.		A0AVK7|E9PB72|Q5H8V9	Nonsense_Mutation	SNP	ENST00000395409.3	37	c.77C>G		.	.	.	.	.	.	.	.	.	.	g	15.37	2.814547	0.50527	.	.	ENSG00000184788	ENST00000509231	.	.	.	3.23	-6.45	0.01914	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.3008	0.02078	0.1986:0.1347:0.1277:0.539	.	.	.	.	X	26	.	.	S	-	2	0	SATL1	84250554	0.000000	0.05858	0.000000	0.03702	0.081000	0.17604	-0.392000	0.07314	-1.422000	0.02004	-0.728000	0.03583	TCA		0.458	SATL1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_291339		14	34	0	0	0	1	0	14	34				
ECHDC2	55268	broad.mit.edu	37	1	53377416	53377416	+	Silent	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:53377416C>T	ENST00000371522.4	-	2	261	c.168G>A	c.(166-168)ttG>ttA	p.L56L	ECHDC2_ENST00000358358.5_Silent_p.L56L|ECHDC2_ENST00000480312.2_5'UTR|ECHDC2_ENST00000541281.1_Silent_p.L10L|ECHDC2_ENST00000536120.1_Silent_p.L10L	NM_001198961.1	NP_001185890.1	Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	56					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	lyase activity (GO:0016829)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						AGACATTCCCCAAGGCATTGC	0.577																																						ENST00000536120.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						c.(28-30)ttG>ttA		enoyl CoA hydratase domain containing 2							73.0	71.0	72.0					1																	53377416		2203	4300	6503	SO:0001819	synonymous_variant	55268				fatty acid metabolic process	mitochondrion	lyase activity	g.chr1:53377416C>T	AF258590	CCDS571.1, CCDS55600.1, CCDS72794.1	1p32.3	2010-04-30	2010-04-30		ENSG00000121310	ENSG00000121310			23408	protein-coding gene	gene with protein product			"""enoyl Coenzyme A hydratase domain containing 2"""				Standard	NM_018281		Approved	FLJ10948	uc001cup.4	Q86YB7	OTTHUMG00000008927	ENST00000371522.4:c.168G>A	1.37:g.53377416C>T						ECHDC2_ENST00000358358.5_Silent_p.L56L|ECHDC2_ENST00000541281.1_Silent_p.L10L|ECHDC2_ENST00000371522.4_Silent_p.L56L|ECHDC2_ENST00000480312.2_5'UTR	p.L10L			Q86YB7	ECHD2_HUMAN			5	847	-			56					D3DQ36|Q9NV38	Silent	SNP	ENST00000371522.4	37	c.30G>A	CCDS55600.1																																																																																				0.577	ECHDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024712.3	NM_018281		22	62	0	0	0	1	0	22	62				
SLC30A8	169026	broad.mit.edu	37	8	118175750	118175750	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr8:118175750C>G	ENST00000456015.2	+	6	810	c.810C>G	c.(808-810)ttC>ttG	p.F270L	SLC30A8_ENST00000521243.1_Missense_Mutation_p.F221L|SLC30A8_ENST00000519688.1_Missense_Mutation_p.F221L|SLC30A8_ENST00000427715.2_Missense_Mutation_p.F221L|RN7SL826P_ENST00000479724.2_RNA	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	270					cellular zinc ion homeostasis (GO:0006882)|insulin secretion (GO:0030073)|positive regulation of insulin secretion (GO:0032024)|regulation of sequestering of zinc ion (GO:0061088)|regulation of vesicle-mediated transport (GO:0060627)|response to glucose (GO:0009749)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TAAAGGACTTCTCCATCTTAC	0.413																																					Ovarian(162;1202 1922 6011 16223 52092)	ENST00000427715.2																			0				breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41						c.(661-663)ttC>ttG		solute carrier family 30 (zinc transporter), member 8							131.0	129.0	130.0					8																	118175750		2203	4300	6503	SO:0001583	missense	169026				insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity	g.chr8:118175750C>G		CCDS6322.1, CCDS55272.1	8q24.11	2014-08-12			ENSG00000164756			"""Solute carriers"""	20303	protein-coding gene	gene with protein product		611145					Standard	NM_001172811		Approved		uc003yoh.3	Q8IWU4	OTTHUMG00000164962	ENST00000456015.2:c.810C>G	8.37:g.118175750C>G	ENSP00000415011:p.Phe270Leu					SLC30A8_ENST00000519688.1_Missense_Mutation_p.F221L|SLC30A8_ENST00000456015.2_Missense_Mutation_p.F270L|SLC30A8_ENST00000521243.1_Missense_Mutation_p.F221L	p.F221L	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	STAD - Stomach adenocarcinoma(47;0.203)		9	1097	+	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		270					A0AVP9|A5YM39|B4DPE0|Q8TCL3	Missense_Mutation	SNP	ENST00000456015.2	37	c.663C>G	CCDS6322.1	.	.	.	.	.	.	.	.	.	.	C	12.41	1.931012	0.34096	.	.	ENSG00000164756	ENST00000521243;ENST00000427715;ENST00000519688;ENST00000456015	T;T;T;T	0.61742	0.08;0.08;0.08;0.08	4.95	1.13	0.20643	.	0.171786	0.50627	N	0.000101	T	0.27663	0.0680	N	0.02315	-0.6	0.31806	N	0.627818	B	0.02656	0.0	B	0.01281	0.0	T	0.14699	-1.0463	10	0.42905	T	0.14	-2.7787	8.4551	0.32895	0.0:0.6584:0.0:0.3416	.	270	Q8IWU4	ZNT8_HUMAN	L	221;221;221;270	ENSP00000428545:F221L;ENSP00000407505:F221L;ENSP00000431069:F221L;ENSP00000415011:F270L	ENSP00000407505:F221L	F	+	3	2	SLC30A8	118244931	0.988000	0.35896	0.898000	0.35279	0.987000	0.75469	0.288000	0.18939	0.079000	0.16929	-0.140000	0.14226	TTC		0.413	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381205.1	NM_173851		26	49	0	0	0	1	0	26	49				
SPEN	23013	broad.mit.edu	37	1	16258439	16258439	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:16258439C>T	ENST00000375759.3	+	11	5908	c.5704C>T	c.(5704-5706)Cgg>Tgg	p.R1902W		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1902					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AACAAGGCGCCGGAATGTAAG	0.502																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(5704-5706)Cgg>Tgg		spen family transcriptional repressor							75.0	78.0	77.0					1																	16258439		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16258439C>T		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.5704C>T	1.37:g.16258439C>T	ENSP00000364912:p.Arg1902Trp						p.R1902W	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	5908	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	1902					Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.5704C>T	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.533733	0.27387	.	.	ENSG00000065526	ENST00000375759	T	0.32753	1.44	5.2	4.19	0.49359	.	.	.	.	.	T	0.52773	0.1755	M	0.71581	2.175	0.54753	D	0.999989	D	0.89917	1.0	D	0.91635	0.999	T	0.55945	-0.8060	9	0.72032	D	0.01	-13.955	12.5408	0.56169	0.2936:0.7064:0.0:0.0	.	1902	Q96T58	MINT_HUMAN	W	1902	ENSP00000364912:R1902W	ENSP00000364912:R1902W	R	+	1	2	SPEN	16131026	1.000000	0.71417	0.997000	0.53966	0.291000	0.27294	3.180000	0.50895	2.432000	0.82394	0.313000	0.20887	CGG		0.502	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		32	87	0	0	0	1	0	32	87				
KRTAP5-4	387267	broad.mit.edu	37	11	1642821	1642821	+	Nonsense_Mutation	SNP	G	G	C	rs374921824		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:1642821G>C	ENST00000399682.1	-	1	547	c.503C>G	c.(502-504)tCa>tGa	p.S168*		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCACAACCTGAGGAGGAGCA	0.617																																						ENST00000399682.1																			0				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20						c.(502-504)tCa>tGa		keratin associated protein 5-4							22.0	34.0	30.0					11																	1642821		692	1590	2282	SO:0001587	stop_gained	387267					keratin filament		g.chr11:1642821G>C	AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"""Keratin associated proteins"""	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.503C>G	11.37:g.1642821G>C	ENSP00000382590:p.Ser168*						p.S168*	NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	547	-		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	228			9 X 4 AA repeats of C-C-X-P.			Nonsense_Mutation	SNP	ENST00000399682.1	37	c.503C>G		.	.	.	.	.	.	.	.	.	.	G	11.77	1.738066	0.30774	.	.	ENSG00000241598	ENST00000399682	.	.	.	1.76	0.731	0.18277	.	.	.	.	.	.	.	.	.	.	.	0.26585	N	0.973304	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	3.933	0.09293	0.0:0.2686:0.4592:0.2722	.	.	.	.	X	168	.	ENSP00000382590:S168X	S	-	2	0	KRTAP5-4	1599397	0.094000	0.21725	0.001000	0.08648	0.001000	0.01503	2.155000	0.42301	0.043000	0.15746	0.297000	0.19635	TCA		0.617	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709		89	254	0	0	0	1	0	89	254				
ARSJ	79642	broad.mit.edu	37	4	114823652	114823652	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr4:114823652G>A	ENST00000315366.7	-	2	2444	c.1578C>T	c.(1576-1578)ttC>ttT	p.F526F	ARSJ_ENST00000541197.1_Silent_p.F526F	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	526					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		CAGTTTTGTTGAACTGTGAGA	0.512																																						ENST00000315366.7																			0				endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21						c.(1576-1578)ttC>ttT		arylsulfatase family, member J							74.0	66.0	69.0					4																	114823652		1858	4101	5959	SO:0001819	synonymous_variant	79642					extracellular region	arylsulfatase activity|metal ion binding	g.chr4:114823652G>A		CCDS43264.1	4q26	2013-02-14	2006-03-07		ENSG00000180801	ENSG00000180801		"""Arylsulfatase family"""	26286	protein-coding gene	gene with protein product		610010	"""arylsulfatase J"""			12975309, 16174644	Standard	NM_024590		Approved	FLJ23548	uc003ibq.1	Q5FYB0	OTTHUMG00000161067	ENST00000315366.7:c.1578C>T	4.37:g.114823652G>A						ARSJ_ENST00000541197.1_Silent_p.F526F	p.F526F	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00194)	2	2444	-		Ovarian(17;0.0035)|Hepatocellular(203;0.217)	526					A2RUG0|B7ZM45|Q1HA39|Q5FWE4|Q6UWT9	Silent	SNP	ENST00000315366.7	37	c.1578C>T	CCDS43264.1																																																																																				0.512	ARSJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363650.1	NM_024590		13	38	0	0	0	1	0	13	38				
PRKCSH	5589	broad.mit.edu	37	19	11559946	11559946	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:11559946G>A	ENST00000589838.1	+	15	1396	c.1396G>A	c.(1396-1398)Gag>Aag	p.E466K	PRKCSH_ENST00000587327.1_Missense_Mutation_p.E463K|PRKCSH_ENST00000591462.1_Missense_Mutation_p.E463K|PRKCSH_ENST00000252455.2_Missense_Mutation_p.E466K|PRKCSH_ENST00000412601.1_Missense_Mutation_p.E463K|PRKCSH_ENST00000592741.1_Missense_Mutation_p.E473K			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	466	PRKCSH.				cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|N-glycan processing (GO:0006491)|negative regulation of neuron projection development (GO:0010977)|nitrogen compound metabolic process (GO:0006807)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein N-linked glycosylation via asparagine (GO:0018279)|renal system development (GO:0072001)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|phosphoprotein binding (GO:0051219)|protein kinase C binding (GO:0005080)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						CATGAAGTATGAGCAAGGCAC	0.682																																						ENST00000252455.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						c.(1396-1398)Gag>Aag		protein kinase C substrate 80K-H							51.0	50.0	51.0					19																	11559946		2203	4300	6503	SO:0001583	missense	5589				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding	g.chr19:11559946G>A		CCDS32911.1, CCDS45977.1, CCDS74286.1	19p13.2	2014-01-30			ENSG00000130175	ENSG00000130175	2.7.11.1	"""EF-hand domain containing"""	9411	protein-coding gene	gene with protein product		177060	"""polycystic liver disease"""	G19P1, PCLD, PLD1		12529853	Standard	NM_002743		Approved		uc002mrt.3	P14314	OTTHUMG00000182029	ENST00000589838.1:c.1396G>A	19.37:g.11559946G>A	ENSP00000465461:p.Glu466Lys					PRKCSH_ENST00000587327.1_Missense_Mutation_p.E463K|PRKCSH_ENST00000592741.1_Missense_Mutation_p.E473K|PRKCSH_ENST00000591462.1_Missense_Mutation_p.E463K|PRKCSH_ENST00000412601.1_Missense_Mutation_p.E463K|PRKCSH_ENST00000589838.1_Missense_Mutation_p.E466K	p.E466K	NM_002743.2	NP_002734.2	P14314	GLU2B_HUMAN			16	1732	+			466			PRKCSH.		A8K318|Q96BU9|Q96D06|Q9P0W9	Missense_Mutation	SNP	ENST00000589838.1	37	c.1396G>A	CCDS32911.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.983065	0.93044	.	.	ENSG00000130175	ENST00000252455;ENST00000412601	D;D	0.83419	-1.72;-1.72	4.76	4.76	0.60689	Mannose-6-phosphate receptor, binding (1);Glucosidase II beta subunit-like (1);	0.054493	0.64402	D	0.000001	D	0.88074	0.6339	L	0.51422	1.61	0.80722	D	1	D;D;P;D	0.89917	1.0;1.0;0.771;0.999	D;D;P;D	0.81914	0.995;0.994;0.574;0.984	D	0.86525	0.1818	10	0.31617	T	0.26	-25.5663	16.5518	0.84474	0.0:0.0:1.0:0.0	.	473;473;463;466	E7EQZ9;B4DJQ5;A8K318;P14314	.;.;.;GLU2B_HUMAN	K	466;463	ENSP00000252455:E466K;ENSP00000395616:E463K	ENSP00000252455:E466K	E	+	1	0	PRKCSH	11420946	1.000000	0.71417	0.922000	0.36590	0.740000	0.42216	8.689000	0.91265	2.199000	0.70637	0.563000	0.77884	GAG		0.682	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458817.1			25	65	0	0	0	1	0	25	65				
ZNF763	284390	broad.mit.edu	37	19	12089178	12089178	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:12089178C>G	ENST00000358987.3	+	4	566	c.439C>G	c.(439-441)Caa>Gaa	p.Q147E	ZNF763_ENST00000545530.1_Missense_Mutation_p.Q25E|ZNF763_ENST00000538752.1_Missense_Mutation_p.Q167E|ZNF763_ENST00000343949.5_Missense_Mutation_p.Q150E|ZNF763_ENST00000592625.1_3'UTR|ZNF763_ENST00000590798.1_Missense_Mutation_p.Q167E			Q0D2J5	ZN763_HUMAN	zinc finger protein 763	147					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						ATATAAGTGTCAACAACCTAA	0.413																																						ENST00000343949.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						c.(448-450)Caa>Gaa		zinc finger protein 763							149.0	152.0	151.0					19																	12089178		2203	4300	6503	SO:0001583	missense	284390							g.chr19:12089178C>G	AK092240	CCDS45982.1	19p13.2	2014-02-12	2006-08-14		ENSG00000197054	ENSG00000197054		"""Zinc fingers, C2H2-type"", ""-"""	27614	protein-coding gene	gene with protein product							Standard	NM_001012753		Approved	ZNF440L		Q0D2J5	OTTHUMG00000156430	ENST00000358987.3:c.439C>G	19.37:g.12089178C>G	ENSP00000402017:p.Gln147Glu					ZNF763_ENST00000545530.1_Missense_Mutation_p.Q25E|ZNF763_ENST00000592625.1_3'UTR|ZNF763_ENST00000538752.1_Missense_Mutation_p.Q167E|ZNF763_ENST00000590798.1_Missense_Mutation_p.Q167E|ZNF763_ENST00000358987.3_Missense_Mutation_p.Q147E	p.Q150E	NM_001012753.1	NP_001012771.1					4	603	+								B3KRU3|B4DRE7	Missense_Mutation	SNP	ENST00000358987.3	37	c.448C>G		.	.	.	.	.	.	.	.	.	.	c	9.617	1.132915	0.21041	.	.	ENSG00000197054	ENST00000538752;ENST00000343949;ENST00000545530;ENST00000358987	T;T;T;T	0.05580	3.54;3.53;3.42;3.52	1.4	0.169	0.15017	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05777	0.0151	N	0.05280	-0.08	0.09310	N	1	P;P;P	0.49185	0.811;0.92;0.593	P;P;B	0.57960	0.83;0.623;0.388	T	0.31558	-0.9939	9	0.56958	D	0.05	.	2.1927	0.03903	0.4245:0.2987:0.0:0.2767	.	167;147;150	F5H0A9;Q0D2J5;Q0D2J5-2	.;ZN763_HUMAN;.	E	167;150;25;147	ENSP00000438117:Q167E;ENSP00000369774:Q150E;ENSP00000446166:Q25E;ENSP00000402017:Q147E	ENSP00000369774:Q150E	Q	+	1	0	ZNF763	11950178	0.004000	0.15560	0.005000	0.12908	0.081000	0.17604	0.576000	0.23744	-0.230000	0.09840	0.195000	0.17529	CAA		0.413	ZNF763-002	KNOWN	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000344158.1	NM_001012753		51	176	0	0	0	1	0	51	176				
COL4A5	1287	broad.mit.edu	37	X	107834330	107834330	+	Missense_Mutation	SNP	G	G	A	rs104886099		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:107834330G>A	ENST00000361603.2	+	20	1452	c.1208G>A	c.(1207-1209)gGa>gAa	p.G403E	COL4A5_ENST00000328300.6_Missense_Mutation_p.G403E	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	403	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGATTTCCTGGAGAAAGGGGT	0.502									Alport syndrome with Diffuse Leiomyomatosis																													ENST00000328300.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99	GRCh37	CM050559	COL4A5	M	rs104886099	c.(1207-1209)gGa>gAa		collagen, type IV, alpha 5							63.0	61.0	62.0					X																	107834330		2203	4300	6503	SO:0001583	missense	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107834330G>A	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.1208G>A	X.37:g.107834330G>A	ENSP00000354505:p.Gly403Glu					COL4A5_ENST00000361603.2_Missense_Mutation_p.G403E	p.G403E	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN			20	1452	+			403			Triple-helical region.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	c.1208G>A	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	g	20.1	3.939619	0.73557	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.99353	-5.77;-5.77	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.99691	0.9883	H	0.98048	4.135	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97201	0.9864	10	0.87932	D	0	.	18.0391	0.89314	0.0:0.0:1.0:0.0	.	403;11;403	E7EVY4;Q49AM6;P29400	.;.;CO4A5_HUMAN	E	403	ENSP00000331902:G403E;ENSP00000354505:G403E	ENSP00000331902:G403E	G	+	2	0	COL4A5	107720986	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.103000	0.94232	2.196000	0.70406	0.540000	0.68198	GGA		0.502	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			22	65	0	0	0	1	0	22	65				
XIRP2	129446	broad.mit.edu	37	2	167760287	167760287	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:167760287G>C	ENST00000409728.1	+	2	384	c.295G>C	c.(295-297)Gat>Cat	p.D99H	XIRP2_ENST00000295237.9_Missense_Mutation_p.D99H|XIRP2_ENST00000420519.1_Missense_Mutation_p.D99H|XIRP2_ENST00000409043.1_Missense_Mutation_p.D99H|XIRP2_ENST00000409195.1_Missense_Mutation_p.D99H|XIRP2_ENST00000409756.2_Missense_Mutation_p.D99H	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GCTGAAGGAGGATTCCCTGAG	0.512																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(295-297)Gat>Cat		xin actin-binding repeat containing 2							106.0	110.0	109.0					2																	167760287		2018	4167	6185	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:167760287G>C	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.295G>C	2.37:g.167760287G>C	ENSP00000386619:p.Asp99His					XIRP2_ENST00000420519.1_Missense_Mutation_p.D99H|XIRP2_ENST00000409728.1_Missense_Mutation_p.D99H|XIRP2_ENST00000409756.2_Missense_Mutation_p.D99H|XIRP2_ENST00000409043.1_Missense_Mutation_p.D99H|XIRP2_ENST00000295237.9_Missense_Mutation_p.D99H	p.D99H	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			2	384	+			0					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409728.1	37	c.295G>C	CCDS56143.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.218806	0.39201	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409195;ENST00000409756;ENST00000420519;ENST00000295237	D;D;T;D;D;T	0.83992	-1.78;-1.79;3.59;-1.78;-1.79;3.59	5.12	5.12	0.69794	.	.	.	.	.	D	0.88130	0.6354	.	.	.	0.22620	N	0.998928	D;D	0.59767	0.986;0.986	P;P	0.57620	0.824;0.824	T	0.81527	-0.0892	8	0.87932	D	0	-0.983	14.0425	0.64684	0.0:0.0:1.0:0.0	.	99;99	A4UGR9-4;A4UGR9-6	.;.	H	99	ENSP00000386454:D99H;ENSP00000386619:D99H;ENSP00000386840:D99H;ENSP00000386724:D99H;ENSP00000415541:D99H;ENSP00000295237:D99H	ENSP00000295237:D99H	D	+	1	0	XIRP2	167468533	0.997000	0.39634	0.411000	0.26484	0.046000	0.14306	3.177000	0.50871	2.390000	0.81377	0.655000	0.94253	GAT		0.512	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381		15	59	0	0	0	1	0	15	59				
SLC30A8	169026	broad.mit.edu	37	8	118175734	118175734	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr8:118175734C>G	ENST00000456015.2	+	6	794	c.794C>G	c.(793-795)aCt>aGt	p.T265S	SLC30A8_ENST00000521243.1_Missense_Mutation_p.T216S|SLC30A8_ENST00000519688.1_Missense_Mutation_p.T216S|SLC30A8_ENST00000427715.2_Missense_Mutation_p.T216S|RN7SL826P_ENST00000479724.2_RNA	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	265					cellular zinc ion homeostasis (GO:0006882)|insulin secretion (GO:0030073)|positive regulation of insulin secretion (GO:0032024)|regulation of sequestering of zinc ion (GO:0061088)|regulation of vesicle-mediated transport (GO:0060627)|response to glucose (GO:0009749)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			AGCACCATCACTATCTTAAAG	0.403																																					Ovarian(162;1202 1922 6011 16223 52092)	ENST00000427715.2																			0				breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41						c.(646-648)aCt>aGt		solute carrier family 30 (zinc transporter), member 8							143.0	141.0	142.0					8																	118175734		2203	4300	6503	SO:0001583	missense	169026				insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity	g.chr8:118175734C>G		CCDS6322.1, CCDS55272.1	8q24.11	2014-08-12			ENSG00000164756			"""Solute carriers"""	20303	protein-coding gene	gene with protein product		611145					Standard	NM_001172811		Approved		uc003yoh.3	Q8IWU4	OTTHUMG00000164962	ENST00000456015.2:c.794C>G	8.37:g.118175734C>G	ENSP00000415011:p.Thr265Ser					SLC30A8_ENST00000519688.1_Missense_Mutation_p.T216S|SLC30A8_ENST00000456015.2_Missense_Mutation_p.T265S|SLC30A8_ENST00000521243.1_Missense_Mutation_p.T216S	p.T216S	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	STAD - Stomach adenocarcinoma(47;0.203)		9	1081	+	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		265					A0AVP9|A5YM39|B4DPE0|Q8TCL3	Missense_Mutation	SNP	ENST00000456015.2	37	c.647C>G	CCDS6322.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.375423	0.42105	.	.	ENSG00000164756	ENST00000521243;ENST00000427715;ENST00000519688;ENST00000456015	T;T;T;T	0.62232	0.04;0.04;0.04;0.04	4.95	2.06	0.26882	.	0.053335	0.85682	D	0.000000	T	0.41994	0.1183	N	0.21282	0.65	0.41902	D	0.99042	B	0.21821	0.061	B	0.29267	0.1	T	0.08351	-1.0726	10	0.11485	T	0.65	-6.3993	6.8981	0.24267	0.0:0.6973:0.1513:0.1514	.	265	Q8IWU4	ZNT8_HUMAN	S	216;216;216;265	ENSP00000428545:T216S;ENSP00000407505:T216S;ENSP00000431069:T216S;ENSP00000415011:T265S	ENSP00000407505:T216S	T	+	2	0	SLC30A8	118244915	1.000000	0.71417	0.876000	0.34364	0.996000	0.88848	4.574000	0.60900	0.306000	0.22856	0.655000	0.94253	ACT		0.403	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381205.1	NM_173851		29	55	0	0	0	1	0	29	55				
TTLL2	83887	broad.mit.edu	37	6	167753614	167753614	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:167753614G>A	ENST00000239587.5	+	3	314	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	76					cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TTTGATGGCGGAAGATGAACC	0.502																																						ENST00000239587.5																			0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(226-228)Gaa>Aaa		tubulin tyrosine ligase-like family, member 2							54.0	58.0	57.0					6																	167753614		2203	4300	6503	SO:0001583	missense	83887				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr6:167753614G>A	AK093039	CCDS5301.1	6q27	2013-02-14		2004-01-14	ENSG00000120440	ENSG00000120440		"""Tubulin tyrosine ligase-like family"""	21211	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 104"""	C6orf104		11054573	Standard	XM_006715572		Approved	NYD-TSPG, dJ366N23.3	uc003qvs.1	Q9BWV7	OTTHUMG00000016023	ENST00000239587.5:c.226G>A	6.37:g.167753614G>A	ENSP00000239587:p.Glu76Lys						p.E76K	NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	3	314	+		Breast(66;7.8e-06)|Ovarian(120;0.024)	76					B2RB11|B3KS77|Q7Z6R8|Q86X22	Missense_Mutation	SNP	ENST00000239587.5	37	c.226G>A	CCDS5301.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.898686	0.52227	.	.	ENSG00000120440	ENST00000239587;ENST00000540954	T	0.02709	4.19	3.26	3.26	0.37387	.	0.000000	0.43579	D	0.000557	T	0.01627	0.0052	L	0.32530	0.975	0.09310	N	0.999998	D	0.60160	0.987	P	0.47673	0.554	T	0.53613	-0.8414	10	0.35671	T	0.21	.	13.5602	0.61784	0.0:0.0:1.0:0.0	.	76	Q9BWV7	TTLL2_HUMAN	K	76;3	ENSP00000239587:E76K	ENSP00000239587:E76K	E	+	1	0	TTLL2	167673604	0.008000	0.16893	0.004000	0.12327	0.019000	0.09904	1.194000	0.32174	1.819000	0.53055	0.484000	0.47621	GAA		0.502	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043127.3	NM_031949		20	66	0	0	0	1	0	20	66				
TRIM4	89122	broad.mit.edu	37	7	99516950	99516950	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr7:99516950G>C	ENST00000355947.2	-	1	204	c.75C>G	c.(73-75)atC>atG	p.I25M	TRIM4_ENST00000354241.5_Missense_Mutation_p.I25M|TRIM4_ENST00000349062.2_Missense_Mutation_p.I25M	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	25					protein trimerization (GO:0070206)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				GGCCGCACTCGATGGACACCG	0.687																																						ENST00000355947.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17						c.(73-75)atC>atG		tripartite motif containing 4							9.0	8.0	8.0					7																	99516950		2177	4256	6433	SO:0001583	missense	89122				protein trimerization	cytoplasm|plasma membrane	zinc ion binding	g.chr7:99516950G>C	AF220023	CCDS5678.1, CCDS5679.1	7q22-q31.1	2013-01-09	2011-01-25		ENSG00000146833	ENSG00000146833		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16275	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM4"", ""tripartite motif protein 4"""		"""tripartite motif-containing 4"""			11331580	Standard	NM_033017		Approved	RNF87	uc003use.3	Q9C037	OTTHUMG00000156648	ENST00000355947.2:c.75C>G	7.37:g.99516950G>C	ENSP00000348216:p.Ile25Met					TRIM4_ENST00000349062.2_Missense_Mutation_p.I25M|TRIM4_ENST00000354241.5_Missense_Mutation_p.I25M	p.I25M	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN			1	204	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)	25					A4D298|Q75MK1|Q96F06|Q9C036	Missense_Mutation	SNP	ENST00000355947.2	37	c.75C>G	CCDS5679.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.166718	0.57476	.	.	ENSG00000146833	ENST00000355947;ENST00000349062;ENST00000354241	T;T;T	0.12465	2.68;2.68;2.68	2.29	2.29	0.28610	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	.	.	.	.	T	0.29158	0.0725	M	0.63169	1.94	0.21355	N	0.999718	D;D;D	0.69078	0.997;0.968;0.975	D;P;P	0.70716	0.97;0.706;0.806	T	0.03103	-1.1072	9	0.87932	D	0	.	7.0143	0.24879	0.0:0.2864:0.7136:0.0	.	25;25;25	Q9C037-3;Q9C037-2;Q9C037	.;.;TRIM4_HUMAN	M	25	ENSP00000348216:I25M;ENSP00000275736:I25M;ENSP00000346186:I25M	ENSP00000275736:I25M	I	-	3	3	TRIM4	99354886	0.379000	0.25123	0.996000	0.52242	0.996000	0.88848	0.526000	0.22971	1.598000	0.50083	0.563000	0.77884	ATC		0.687	TRIM4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345050.1	NM_033017		3	9	0	0	0	1	0	3	9				
CHD2	1106	broad.mit.edu	37	15	93540504	93540504	+	Silent	SNP	C	C	G	rs141696596		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr15:93540504C>G	ENST00000394196.4	+	30	4824	c.3756C>G	c.(3754-3756)gtC>gtG	p.V1252V	CHD2_ENST00000557381.1_Silent_p.V1252V	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1252					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CCTGTCGTGTCAAAGCTGCAC	0.388													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17790	0.0		0.0	False		,,,				2504	0.0					ENST00000394196.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47						c.(3754-3756)gtC>gtG		chromodomain helicase DNA binding protein 2							129.0	128.0	128.0					15																	93540504		2197	4298	6495	SO:0001819	synonymous_variant	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93540504C>G	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.3756C>G	15.37:g.93540504C>G						CHD2_ENST00000557381.1_Silent_p.V1252V	p.V1252V	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		30	4824	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		1252					C6G482|Q96IP5	Silent	SNP	ENST00000394196.4	37	c.3756C>G	CCDS10374.2																																																																																				0.388	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		15	58	0	0	0	1	0	15	58				
CD59	966	broad.mit.edu	37	11	33738937	33738937	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:33738937C>T	ENST00000395850.3	-	3	223	c.148G>A	c.(148-150)Gcg>Acg	p.A50T	CD59_ENST00000426650.2_Missense_Mutation_p.A50T|CD59_ENST00000437761.2_Missense_Mutation_p.A50T|CD59_ENST00000351554.3_Missense_Mutation_p.A50T|CD59_ENST00000445143.2_Missense_Mutation_p.A50T|CD59_ENST00000415002.2_Missense_Mutation_p.A50T|CD59_ENST00000527577.1_Missense_Mutation_p.A50T|CD59_ENST00000533403.1_Missense_Mutation_p.A50T|CD59_ENST00000534312.1_Missense_Mutation_p.A50T|CD59_ENST00000528700.1_Missense_Mutation_p.A50T	NM_000611.5|NM_001127225.1|NM_001127226.1|NM_001127227.1|NM_203329.2|NM_203330.2|NM_203331.2	NP_000602.1|NP_001120697.1|NP_001120698.1|NP_001120699.1|NP_976074.1|NP_976075.1|NP_976076.1	P13987	CD59_HUMAN	CD59 molecule, complement regulatory protein	50	UPAR/Ly6.				blood coagulation (GO:0007596)|cell activation (GO:0001775)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|negative regulation of activation of membrane attack complex (GO:0001971)|negative regulation of apoptotic process (GO:0043066)|positive regulation of T cell proliferation (GO:0042102)|regulation of complement activation (GO:0030449)	anchored component of external side of plasma membrane (GO:0031362)|cell surface (GO:0009986)|compact myelin (GO:0043218)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	complement binding (GO:0001848)			endometrium(1)|lung(2)	3						ATGAGACACGCATCAAAATCA	0.448																																						ENST00000395850.3																			0				endometrium(1)|lung(2)	3						c.(148-150)Gcg>Acg		CD59 molecule, complement regulatory protein							100.0	89.0	93.0					11																	33738937		2202	4298	6500	SO:0001583	missense	966				blood coagulation|cell surface receptor linked signaling pathway	anchored to external side of plasma membrane|extracellular region|membrane fraction		g.chr11:33738937C>T		CCDS7886.1	11p13	2014-09-17	2006-03-28			ENSG00000085063		"""CD molecules"", ""Complement system"""	1689	protein-coding gene	gene with protein product		107271	"""CD59 antigen p18-20 (antigen identified by monoclonal antibodies 16.3A5, EJ16, EJ30, EL32 and G344)"", ""CD59 antigen, complement regulatory protein"""	MIC11, MIN1, MSK21, MIN2, MIN3		7691713	Standard	NM_001127223		Approved	16.3A5, EJ16, EJ30, EL32, G344, p18-20	uc001mus.4	P13987		ENST00000395850.3:c.148G>A	11.37:g.33738937C>T	ENSP00000379191:p.Ala50Thr					CD59_ENST00000415002.2_Missense_Mutation_p.A50T|CD59_ENST00000528700.1_Missense_Mutation_p.A50T|CD59_ENST00000534312.1_Missense_Mutation_p.A50T|CD59_ENST00000527577.1_Missense_Mutation_p.A50T|CD59_ENST00000533403.1_Missense_Mutation_p.A50T|CD59_ENST00000437761.2_Missense_Mutation_p.A50T|CD59_ENST00000426650.2_Missense_Mutation_p.A50T|CD59_ENST00000445143.2_Missense_Mutation_p.A50T|CD59_ENST00000351554.3_Missense_Mutation_p.A50T	p.A50T	NM_000611.5|NM_001127225.1|NM_001127226.1|NM_001127227.1|NM_203329.2|NM_203330.2|NM_203331.2	NP_000602.1|NP_001120697.1|NP_001120698.1|NP_001120699.1|NP_976074.1|NP_976075.1|NP_976076.1	P13987	CD59_HUMAN			3	223	-			50			UPAR/Ly6.			Missense_Mutation	SNP	ENST00000395850.3	37	c.148G>A	CCDS7886.1	.	.	.	.	.	.	.	.	.	.	C	7.293	0.611403	0.14066	.	.	ENSG00000085063	ENST00000534312;ENST00000527926;ENST00000395850;ENST00000533403;ENST00000351554;ENST00000415002;ENST00000445143;ENST00000426650;ENST00000437761;ENST00000527577;ENST00000528700	T;T;T;T;T;T;T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4	3.99	-3.72	0.04411	Ly-6 antigen / uPA receptor -like (1);CD59 antigen, conserved site (1);CD59 antigen (1);	0.536809	0.20359	N	0.093887	T	0.45458	0.1343	L	0.27053	0.805	0.09310	N	1	B;B	0.18968	0.013;0.032	B;B	0.23150	0.029;0.044	T	0.25222	-1.0138	10	0.23302	T	0.38	-16.9083	9.2609	0.37612	0.5761:0.3467:0.0:0.0772	.	50;50	E9PI80;P13987	.;CD59_HUMAN	T	50	ENSP00000432362:A50T;ENSP00000437122:A50T;ENSP00000379191:A50T;ENSP00000436737:A50T;ENSP00000340210:A50T;ENSP00000404822:A50T;ENSP00000403511:A50T;ENSP00000402425:A50T;ENSP00000410182:A50T;ENSP00000432942:A50T;ENSP00000434617:A50T	ENSP00000340210:A50T	A	-	1	0	CD59	33695513	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.412000	0.00238	-1.054000	0.03214	-2.285000	0.00268	GCG		0.448	CD59-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000388809.1	NM_203329		8	18	0	0	0	1	0	8	18				
JADE3	9767	broad.mit.edu	37	X	46915517	46915517	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:46915517G>C	ENST00000218343.4	+	10	1775	c.1477G>C	c.(1477-1479)Gag>Cag	p.E493Q	PHF16_ENST00000397189.1_Missense_Mutation_p.E493Q	NM_014735.3	NP_055550.1														NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						AAGCAGACGAGAGAAGCTGAA	0.398																																						ENST00000218343.4																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						c.(1477-1479)Gag>Cag									119.0	95.0	103.0					X																	46915517		2203	4300	6503	SO:0001583	missense	9767				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chrX:46915517G>C																												ENST00000218343.4:c.1477G>C	X.37:g.46915517G>C	ENSP00000218343:p.Glu493Gln					PHF16_ENST00000397189.1_Missense_Mutation_p.E493Q	p.E493Q	NM_014735.3	NP_055550.1	Q92613	JADE3_HUMAN			10	1775	+			493						Missense_Mutation	SNP	ENST00000218343.4	37	c.1477G>C	CCDS14271.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.000538	0.93227	.	.	ENSG00000102221	ENST00000397189;ENST00000218343	T;T	0.72725	-0.68;-0.68	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.87912	0.6297	M	0.91140	3.18	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.90535	0.4498	10	0.87932	D	0	.	18.5887	0.91200	0.0:0.0:1.0:0.0	.	493	Q92613	JADE3_HUMAN	Q	493	ENSP00000380373:E493Q;ENSP00000218343:E493Q	ENSP00000218343:E493Q	E	+	1	0	PHF16	46800461	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.341000	0.97041	2.333000	0.79357	0.600000	0.82982	GAG		0.398	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056376.1			11	36	0	0	0	1	0	11	36				
ZNF300P1	134466	broad.mit.edu	37	5	150322223	150322223	+	RNA	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:150322223C>G	ENST00000520773.1	-	0	1261									zinc finger protein 300 pseudogene 1 (functional)																		GCCACATCCTCAAATGACACT	0.453																																						ENST00000520773.1																			0																																																			134466							g.chr5:150322223C>G	AK096536		5q33.1	2014-09-11	2014-01-16		ENSG00000197083	ENSG00000197083		"""-"""	27032	pseudogene	pseudogene			"""zinc finger protein 300 pseudogene 1"""			24393131	Standard	NR_026867		Approved		uc003lsz.1		OTTHUMG00000154830		5.37:g.150322223C>G														0	1261	-									RNA	SNP	ENST00000520773.1	37																																																																																						0.453	ZNF300P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000374771.1	NR_026867		13	71	0	0	0	1	0	13	71				
RNF13	11342	broad.mit.edu	37	3	149678610	149678610	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:149678610C>G	ENST00000344229.3	+	11	1567	c.865C>G	c.(865-867)Caa>Gaa	p.Q289E	RNF13_ENST00000361785.6_Missense_Mutation_p.Q170E|RNF13_ENST00000392894.3_Missense_Mutation_p.Q289E	NM_007282.4	NP_009213.1	O43567	RNF13_HUMAN	ring finger protein 13	289					protein autoubiquitination (GO:0051865)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TGTTCCTTCTCAAGGCGATTC	0.423																																						ENST00000344229.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11						c.(865-867)Caa>Gaa		ring finger protein 13							85.0	78.0	81.0					3																	149678610		2203	4300	6503	SO:0001583	missense	11342				protein autoubiquitination	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr3:149678610C>G	AF037204	CCDS3146.1	3q25.1	2013-01-09			ENSG00000082996	ENSG00000082996		"""RING-type (C3HC4) zinc fingers"""	10057	protein-coding gene	gene with protein product		609247					Standard	NM_183381		Approved	RZF	uc003exp.4	O43567	OTTHUMG00000150338	ENST00000344229.3:c.865C>G	3.37:g.149678610C>G	ENSP00000341361:p.Gln289Glu					RNF13_ENST00000361785.6_Missense_Mutation_p.Q170E|RNF13_ENST00000392894.3_Missense_Mutation_p.Q289E	p.Q289E	NM_007282.4	NP_009213.1	O43567	RNF13_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		11	1567	+		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	289					A6NC87|B3KR12|Q05D66|Q6IBJ9	Missense_Mutation	SNP	ENST00000344229.3	37	c.865C>G	CCDS3146.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.451|6.451	0.451388|0.451388	0.12223|0.12223	.|.	.|.	ENSG00000082996|ENSG00000082996	ENST00000392894;ENST00000344229;ENST00000491086;ENST00000361785;ENST00000482083|ENST00000468289	T;T;T;T;T|.	0.66995|.	-0.24;-0.24;-0.24;-0.24;-0.24|.	6.06|6.06	5.19|5.19	0.71726|0.71726	.|.	0.148664|.	0.64402|.	N|.	0.000007|.	T|.	0.48466|.	0.1501|.	N|N	0.05330|0.05330	-0.07|-0.07	0.54753|0.54753	D|D	0.999982|0.999982	B;B|.	0.12630|.	0.006;0.002|.	B;B|.	0.14023|.	0.01;0.004|.	T|.	0.54977|.	-0.8212|.	10|.	0.02654|0.45353	T|T	1|0.12	-14.0503|-14.0503	17.4133|17.4133	0.87493|0.87493	0.0:0.8754:0.1246:0.0|0.0:0.8754:0.1246:0.0	.|.	170;289|.	B3KR12;O43567|.	.;RNF13_HUMAN|.	E|X	289;289;170;170;170|90	ENSP00000376628:Q289E;ENSP00000341361:Q289E;ENSP00000420667:Q170E;ENSP00000355268:Q170E;ENSP00000418863:Q170E|.	ENSP00000341361:Q289E|ENSP00000420510:S90X	Q|S	+|+	1|2	0|0	RNF13|RNF13	151161300|151161300	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	3.472000|3.472000	0.53114|0.53114	1.545000|1.545000	0.49373|0.49373	0.650000|0.650000	0.86243|0.86243	CAA|TCA		0.423	RNF13-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356876.1	NM_183384		22	71	0	0	0	1	0	22	71				
SLC38A5	92745	broad.mit.edu	37	X	48320414	48320414	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:48320414C>G	ENST00000376876.3	-	10	1593	c.750G>C	c.(748-750)caG>caC	p.Q250H	SLC38A5_ENST00000376875.1_Missense_Mutation_p.Q199H|SLC38A5_ENST00000480105.1_5'Flank|SLC38A5_ENST00000317669.5_Missense_Mutation_p.Q250H			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	250					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)			breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						CTGTGAACATCTGGGCCTCAC	0.532																																						ENST00000376876.3																			0				breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						c.(748-750)caG>caC		solute carrier family 38, member 5							98.0	71.0	80.0					X																	48320414		2203	4300	6503	SO:0001583	missense	92745				cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane		g.chrX:48320414C>G	AF276889	CCDS14293.1	Xp11.23	2013-05-22			ENSG00000017483	ENSG00000017483		"""Solute carriers"""	18070	protein-coding gene	gene with protein product		300649				11243884	Standard	NM_033518		Approved	SN2, JM24	uc010nid.3	Q8WUX1	OTTHUMG00000024117	ENST00000376876.3:c.750G>C	X.37:g.48320414C>G	ENSP00000366073:p.Gln250His					SLC38A5_ENST00000376875.1_Missense_Mutation_p.Q199H|SLC38A5_ENST00000317669.5_Missense_Mutation_p.Q250H	p.Q250H			Q8WUX1	S38A5_HUMAN			10	1593	-			250					B3KT20|B5MDE6|B7WPJ9|Q6PIW9|Q8WYU2|Q96PQ4	Missense_Mutation	SNP	ENST00000376876.3	37	c.750G>C	CCDS14293.1	.	.	.	.	.	.	.	.	.	.	c	10.71	1.427110	0.25726	.	.	ENSG00000017483	ENST00000376876;ENST00000376875;ENST00000317669;ENST00000440085;ENST00000441948	T;T;T;T;T	0.02216	4.39;4.39;4.39;4.39;4.39	5.09	-0.161	0.13371	.	0.600559	0.17410	N	0.175223	T	0.01661	0.0053	N	0.21194	0.64	0.09310	N	0.999996	B	0.02656	0.0	B	0.10450	0.005	T	0.44019	-0.9355	10	0.48119	T	0.1	.	5.2374	0.15454	0.1352:0.3962:0.3883:0.0803	.	250	Q8WUX1	S38A5_HUMAN	H	250;199;250;250;250	ENSP00000366073:Q250H;ENSP00000366071:Q199H;ENSP00000313740:Q250H;ENSP00000402988:Q250H;ENSP00000407258:Q250H	ENSP00000313740:Q250H	Q	-	3	2	SLC38A5	48205358	0.012000	0.17670	0.488000	0.27440	0.898000	0.52572	-0.030000	0.12308	-0.548000	0.06199	0.436000	0.28706	CAG		0.532	SLC38A5-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060724.1	NM_033518		6	35	0	0	0	1	0	6	35				
CST4	1472	broad.mit.edu	37	20	23669456	23669456	+	Missense_Mutation	SNP	C	C	T	rs150280233	byFrequency	TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr20:23669456C>T	ENST00000217423.3	-	1	221	c.151G>A	c.(151-153)Gcc>Acc	p.A51T		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	51					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					TCGCTGATGGCGAAGTGAAGG	0.592													.|||	4	0.000798722	0.0015	0.0	5008	,	,		18139	0.0		0.0	False		,,,				2504	0.002					ENST00000217423.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16						c.(151-153)Gcc>Acc		cystatin S		C	THR/ALA	10,4396	16.8+/-37.8	0,10,2193	151.0	128.0	136.0		151	2.0	0.0	20	dbSNP_134	136	0,8600		0,0,4300	no	missense	CST4	NM_001899.2	58	0,10,6493	TT,TC,CC		0.0,0.227,0.0769	possibly-damaging	51/142	23669456	10,12996	2203	4300	6503	SO:0001583	missense	1472					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23669456C>T		CCDS13159.1	20p11.2	2008-04-15			ENSG00000101441	ENSG00000101441			2476	protein-coding gene	gene with protein product		123857				1801729	Standard	NM_001899		Approved		uc002wto.1	P01036	OTTHUMG00000032083	ENST00000217423.3:c.151G>A	20.37:g.23669456C>T	ENSP00000217423:p.Ala51Thr						p.A51T	NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN			1	221	-	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)		51					Q9UBI5|Q9UCS9	Missense_Mutation	SNP	ENST00000217423.3	37	c.151G>A	CCDS13159.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.480691	0.44044	0.00227	0.0	ENSG00000101441	ENST00000217423	T	0.29917	1.55	2.03	2.03	0.26663	Proteinase inhibitor I25, cystatin (2);	0.000000	0.85682	D	0.000000	T	0.46112	0.1376	M	0.80847	2.515	0.09310	N	0.999999	D	0.71674	0.998	P	0.58172	0.834	T	0.25745	-1.0123	10	0.59425	D	0.04	.	7.4512	0.27240	0.0:1.0:0.0:0.0	.	51	P01036	CYTS_HUMAN	T	51	ENSP00000217423:A51T	ENSP00000217423:A51T	A	-	1	0	CST4	23617456	0.395000	0.25254	0.005000	0.12908	0.037000	0.13140	2.353000	0.44089	1.103000	0.41568	0.436000	0.28706	GCC		0.592	CST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078349.2	NM_001899		19	61	0	0	0	1	0	19	61				
MUC7	4589	broad.mit.edu	37	4	71347025	71347025	+	Silent	SNP	C	C	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr4:71347025C>A	ENST00000304887.5	+	3	754	c.564C>A	c.(562-564)acC>acA	p.T188T	MUC7_ENST00000413702.1_Silent_p.T188T|MUC7_ENST00000456088.1_Silent_p.T188T	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	188	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CACCAGAGACCACAGCTGCCC	0.587																																						ENST00000413702.1																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(562-564)acC>acA		mucin 7, secreted							341.0	275.0	297.0					4																	71347025		2203	4300	6503	SO:0001819	synonymous_variant	4589					extracellular region	protein binding	g.chr4:71347025C>A	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.564C>A	4.37:g.71347025C>A						MUC7_ENST00000304887.5_Silent_p.T188T|MUC7_ENST00000456088.1_Silent_p.T188T	p.T188T	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	852	+			188			Thr-rich.		Q9UCD7|Q9UCD8	Silent	SNP	ENST00000304887.5	37	c.564C>A	CCDS3541.1																																																																																				0.587	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		48	141	1	0	4.00472e-15	1	4.2754e-15	48	141				
KRT78	196374	broad.mit.edu	37	12	53238402	53238402	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:53238402G>A	ENST00000304620.4	-	5	925	c.862C>T	c.(862-864)Cgg>Tgg	p.R288W	KRT78_ENST00000359499.4_Missense_Mutation_p.R178W	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	288	Coil 2.|Rod.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						TCCTCGTACCGGGCGCGGACC	0.632																																						ENST00000359499.4																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(532-534)Cgg>Tgg		keratin 78							118.0	90.0	100.0					12																	53238402		2203	4300	6503	SO:0001583	missense	196374					keratin filament	protein binding|structural molecule activity	g.chr12:53238402G>A	AK096419	CCDS8840.1, CCDS73473.1	12q13.13	2013-06-25			ENSG00000170423	ENSG00000170423		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28926	protein-coding gene	gene with protein product		611159				16831889	Standard	XM_005268695		Approved	K5B	uc001sbc.1	Q8N1N4	OTTHUMG00000169880	ENST00000304620.4:c.862C>T	12.37:g.53238402G>A	ENSP00000306261:p.Arg288Trp					KRT78_ENST00000304620.4_Missense_Mutation_p.R288W	p.R178W			Q8N1N4	K2C78_HUMAN			5	543	-			288			Coil 1B.|Rod.		A8K4D6|Q5HYM7|Q7RTT2	Missense_Mutation	SNP	ENST00000304620.4	37	c.532C>T	CCDS8840.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.167537	0.78339	.	.	ENSG00000170423	ENST00000359499;ENST00000304620;ENST00000539860;ENST00000547110	D;D;D	0.89050	-2.46;-2.46;-2.46	5.07	4.18	0.49190	Filament (1);	.	.	.	.	D	0.91620	0.7352	L	0.52364	1.645	0.29874	N	0.82662	D	0.89917	1.0	D	0.78314	0.991	D	0.86621	0.1879	9	0.87932	D	0	.	9.1654	0.37048	0.0829:0.1476:0.7695:0.0	.	288	Q8N1N4	K2C78_HUMAN	W	178;288;59;59	ENSP00000352479:R178W;ENSP00000306261:R288W;ENSP00000447817:R59W	ENSP00000306261:R288W	R	-	1	2	KRT78	51524669	0.998000	0.40836	0.557000	0.28306	0.005000	0.04900	4.884000	0.63135	1.259000	0.44117	0.563000	0.77884	CGG		0.632	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406380.1	NM_173352		4	101	0	0	0	1	0	4	101				
SIK3	23387	broad.mit.edu	37	11	116767027	116767027	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:116767027C>G	ENST00000292055.4	-	6	668	c.633G>C	c.(631-633)caG>caC	p.Q211H	SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000375300.1_Missense_Mutation_p.Q269H|SIK3_ENST00000542607.1_Missense_Mutation_p.Q211H|SIK3_ENST00000446921.2_Missense_Mutation_p.Q269H|SIK3_ENST00000434315.2_Missense_Mutation_p.Q110H	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	211	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						CCCGCAGATTCTGCAGTGTGC	0.507																																						ENST00000375300.1																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						c.(805-807)caG>caC		SIK family kinase 3							96.0	91.0	93.0					11																	116767027		2201	4296	6497	SO:0001583	missense	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116767027C>G	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.633G>C	11.37:g.116767027C>G	ENSP00000292055:p.Gln211His					SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000434315.2_Missense_Mutation_p.Q110H|SIK3_ENST00000446921.2_Missense_Mutation_p.Q269H|SIK3_ENST00000292055.4_Missense_Mutation_p.Q211H|SIK3_ENST00000542607.1_Missense_Mutation_p.Q211H	p.Q269H			Q9Y2K2	SIK3_HUMAN			6	812	-			211					A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Missense_Mutation	SNP	ENST00000292055.4	37	c.807G>C	CCDS8379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.36|19.36	3.812945|3.812945	0.70912|0.70912	.|.	.|.	ENSG00000160584|ENSG00000160584	ENST00000445177;ENST00000446921;ENST00000413553|ENST00000375300;ENST00000292055;ENST00000542607;ENST00000434315	.|T;T;T;T	.|0.66280	.|-0.2;-0.2;-0.2;-0.2	5.49|5.49	4.56|4.56	0.56223|0.56223	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.39544	.|U	.|0.001336	T|T	0.71039|0.71039	0.3293|0.3293	L|L	0.42581|0.42581	1.335|1.335	0.80722|0.80722	D|D	1|1	.|D;B;D	.|0.61080	.|0.989;0.021;0.977	.|D;B;D	.|0.66716	.|0.946;0.065;0.933	T|T	0.72293|0.72293	-0.4336|-0.4336	5|10	.|0.51188	.|T	.|0.08	.|.	14.479|14.479	0.67567|0.67567	0.1487:0.8513:0.0:0.0|0.1487:0.8513:0.0:0.0	.|.	.|211;110;211	.|A1A5A8;A1A5A9;Q9Y2K2	.|.;.;SIK3_HUMAN	Q|H	263;234;172|269;211;211;110	.|ENSP00000364449:Q269H;ENSP00000292055:Q211H;ENSP00000438108:Q211H;ENSP00000415873:Q110H	.|ENSP00000292055:Q211H	E|Q	-|-	1|3	0|2	SIK3|SIK3	116272237|116272237	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	5.757000|5.757000	0.68766|0.68766	1.297000|1.297000	0.44761|0.44761	0.563000|0.563000	0.77884|0.77884	GAA|CAG		0.507	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		31	88	0	0	0	1	0	31	88				
PLXNB1	5364	broad.mit.edu	37	3	48465367	48465367	+	Silent	SNP	G	G	A	rs140603920	byFrequency	TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:48465367G>A	ENST00000358536.4	-	3	923	c.654C>T	c.(652-654)ttC>ttT	p.F218F	PLXNB1_ENST00000358459.4_Silent_p.F218F|PLXNB1_ENST00000456774.1_Silent_p.F218F|PLXNB1_ENST00000296440.6_Silent_p.F218F|PLXNB1_ENST00000448774.2_Intron	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	218	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGGCACTCACGAAGTGGTGGC	0.632																																						ENST00000358536.4																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(652-654)ttC>ttT		plexin B1		G	,	1,4405	2.1+/-5.4	0,1,2202	33.0	32.0	32.0		654,654	-6.4	0.8	3	dbSNP_134	32	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous,coding-synonymous	PLXNB1	NM_001130082.1,NM_002673.4	,	0,5,6498	AA,AG,GG		0.0465,0.0227,0.0384	,	218/2136,218/2136	48465367	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	5364				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	g.chr3:48465367G>A	X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.654C>T	3.37:g.48465367G>A						PLXNB1_ENST00000358459.4_Silent_p.F218F|PLXNB1_ENST00000296440.6_Silent_p.F218F|PLXNB1_ENST00000456774.1_Silent_p.F218F|PLXNB1_ENST00000448774.2_Intron	p.F218F	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	3	923	-			218			Sema.		A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Silent	SNP	ENST00000358536.4	37	c.654C>T	CCDS2765.1																																																																																				0.632	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		15	33	0	0	0	1	0	15	33				
KPNA1	3836	broad.mit.edu	37	3	122172742	122172742	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:122172742G>C	ENST00000344337.6	-	6	715	c.539C>G	c.(538-540)tCa>tGa	p.S180*	KPNA1_ENST00000466923.1_5'UTR	NM_002264.3	NP_002255.3	P52294	IMA5_HUMAN	karyopherin alpha 1 (importin alpha 5)	180	NLS binding site (major). {ECO:0000250}.				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|regulation of DNA recombination (GO:0000018)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		TTCAAACTCTGAGCTGAGCAA	0.443																																					Melanoma(12;340 801 11196 19797)	ENST00000344337.6																			0				NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21						c.(538-540)tCa>tGa		karyopherin alpha 1 (importin alpha 5)							87.0	83.0	85.0					3																	122172742		2203	4300	6503	SO:0001587	stop_gained	3836				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr3:122172742G>C	S75295	CCDS3013.1	3q21	2013-02-14			ENSG00000114030	ENSG00000114030		"""Importins"", ""Armadillo repeat containing"""	6394	protein-coding gene	gene with protein product		600686				8052633	Standard	NM_002264		Approved	SRP1, RCH2, NPI-1, IPOA5	uc003efe.2	P52294	OTTHUMG00000159487	ENST00000344337.6:c.539C>G	3.37:g.122172742G>C	ENSP00000343701:p.Ser180*					KPNA1_ENST00000466923.1_5'UTR	p.S180*	NM_002264.3	NP_002255.3	P52294	IMA1_HUMAN		GBM - Glioblastoma multiforme(114;0.0898)	6	715	-			180			NLS binding site (major) (By similarity).		D3DN93|Q6IBQ9|Q9BQ56	Nonsense_Mutation	SNP	ENST00000344337.6	37	c.539C>G	CCDS3013.1	.	.	.	.	.	.	.	.	.	.	G	31	5.079882	0.94050	.	.	ENSG00000114030	ENST00000344337;ENST00000465882;ENST00000482287	.	.	.	4.35	4.35	0.52113	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-7.3803	16.4317	0.83847	0.0:0.0:1.0:0.0	.	.	.	.	X	180	.	ENSP00000343701:S180X	S	-	2	0	KPNA1	123655432	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.601000	0.98297	2.414000	0.81942	0.591000	0.81541	TCA		0.443	KPNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355740.1	NM_002264		15	41	0	0	0	1	0	15	41				
TBC1D3P2	440452	broad.mit.edu	37	17	60342197	60342197	+	RNA	SNP	T	T	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:60342197T>C	ENST00000581291.1	-	0	1956									TBC1 domain family, member 3 pseudogene 2											breast(2)|kidney(1)|lung(2)	5						TGGGAGGGGCTGGGCATGGTT	0.488																																						ENST00000581291.1																			0				breast(2)|kidney(1)|lung(2)	5																																														440452							g.chr17:60342197T>C			17q23.2	2009-05-14				ENSG00000188755			27783	pseudogene	pseudogene							Standard	NR_027486		Approved		uc002izq.2				17.37:g.60342197T>C														0	1956	-									RNA	SNP	ENST00000581291.1	37																																																																																						0.488	TBC1D3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445021.1	NR_027486		3	28	0	0	0	1	0	3	28				
TDRKH	11022	broad.mit.edu	37	1	151754022	151754022	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:151754022C>G	ENST00000368822.1	-	3	799	c.166G>C	c.(166-168)Gag>Cag	p.E56Q	TDRKH_ENST00000368823.1_Missense_Mutation_p.E56Q|TDRKH_ENST00000368827.6_Missense_Mutation_p.E56Q|TDRKH_ENST00000458431.2_Missense_Mutation_p.E56Q|TDRKH_ENST00000440583.2_5'UTR|TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000368825.3_Missense_Mutation_p.E56Q|TDRKH_ENST00000368824.3_Missense_Mutation_p.E56Q			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	56	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	mitochondrion (GO:0005739)|pi-body (GO:0071546)|piP-body (GO:0071547)	RNA binding (GO:0003723)			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			ACCCGCATCTCTATCTCAATG	0.463																																						ENST00000368822.1																			0				breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(166-168)Gag>Cag		tudor and KH domain containing							141.0	137.0	139.0					1																	151754022		1914	4137	6051	SO:0001583	missense	11022						RNA binding	g.chr1:151754022C>G	AF227192	CCDS41394.1, CCDS41395.1	1q21	2013-01-23	2003-11-07		ENSG00000182134	ENSG00000182134		"""Tudor domain containing"""	11713	protein-coding gene	gene with protein product		609501	"""tudor and KH domain containing"""			10767542	Standard	NM_001083964		Approved	TDRD2	uc001eza.4	Q9Y2W6	OTTHUMG00000013062	ENST00000368822.1:c.166G>C	1.37:g.151754022C>G	ENSP00000357812:p.Glu56Gln					TDRKH_ENST00000368823.1_Missense_Mutation_p.E56Q|TDRKH_ENST00000368824.3_Missense_Mutation_p.E56Q|TDRKH_ENST00000368825.3_Missense_Mutation_p.E56Q|TDRKH_ENST00000458431.2_Missense_Mutation_p.E56Q|TDRKH_ENST00000440583.2_5'UTR|TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000368827.6_Missense_Mutation_p.E56Q	p.E56Q			Q9Y2W6	TDRKH_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		3	799	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		56			KH 1.		D3DV24|Q5SZR3|Q5SZR5|Q8N582|Q9NYV5	Missense_Mutation	SNP	ENST00000368822.1	37	c.166G>C	CCDS41394.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.637969	0.67130	.	.	ENSG00000182134	ENST00000368827;ENST00000368825;ENST00000368824;ENST00000368823;ENST00000368822;ENST00000458431;ENST00000526378	T;T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45;1.45	6.06	5.15	0.70609	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.230541	0.35646	N	0.003071	T	0.23492	0.0568	N	0.20986	0.625	0.80722	D	1	D;D;D	0.63880	0.968;0.993;0.99	P;P;D	0.64042	0.688;0.76;0.921	T	0.11743	-1.0575	10	0.56958	D	0.05	-18.9748	8.0575	0.30614	0.1575:0.763:0.0:0.0795	.	56;56;56	Q5SZR5;Q5SZR4;Q9Y2W6	.;.;TDRKH_HUMAN	Q	56	ENSP00000357819:E56Q;ENSP00000357817:E56Q;ENSP00000357815:E56Q;ENSP00000357813:E56Q;ENSP00000357812:E56Q;ENSP00000395718:E56Q;ENSP00000431557:E56Q	ENSP00000357812:E56Q	E	-	1	0	TDRKH	150020646	0.997000	0.39634	1.000000	0.80357	0.990000	0.78478	2.214000	0.42853	1.570000	0.49709	0.655000	0.94253	GAG		0.463	TDRKH-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000036648.2	NM_006862		18	65	0	0	0	1	0	18	65				
BRCA2	675	broad.mit.edu	37	13	32915015	32915015	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr13:32915015G>C	ENST00000380152.3	+	11	6756	c.6523G>C	c.(6523-6525)Gag>Cag	p.E2175Q	BRCA2_ENST00000544455.1_Missense_Mutation_p.E2175Q			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2175					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GTCACTTGTTGAGAACATTCA	0.323			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 2			"""L, E"""		"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(6523-6525)Gag>Cag	Homologous recombination	breast cancer 2, early onset							48.0	51.0	50.0					13																	32915015		2203	4299	6502	SO:0001583	missense	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32915015G>C	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.6523G>C	13.37:g.32915015G>C	ENSP00000369497:p.Glu2175Gln	TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Missense_Mutation_p.E2175Q	p.E2175Q	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	6750	+		Lung SC(185;0.0262)	2175					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.6523G>C	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	G	9.544	1.114160	0.20795	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.80123	-1.34;-1.34	5.21	3.42	0.39159	.	0.420938	0.22419	N	0.060307	T	0.77136	0.4086	M	0.65975	2.015	0.09310	N	1	P	0.45902	0.868	B	0.42319	0.383	T	0.69873	-0.5027	10	0.52906	T	0.07	.	8.5653	0.33536	0.3107:0.0:0.6893:0.0	.	2175	P51587	BRCA2_HUMAN	Q	2175	ENSP00000369497:E2175Q;ENSP00000439902:E2175Q	ENSP00000369497:E2175Q	E	+	1	0	BRCA2	31813015	0.701000	0.27806	0.011000	0.14972	0.352000	0.29268	1.387000	0.34430	1.169000	0.42739	0.491000	0.48974	GAG		0.323	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		10	28	0	0	0	1	0	10	28				
KIAA1522	57648	broad.mit.edu	37	1	33237349	33237349	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:33237349C>G	ENST00000373480.1	+	6	2495	c.2392C>G	c.(2392-2394)Cag>Gag	p.Q798E	KIAA1522_ENST00000401073.2_Missense_Mutation_p.Q857E|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Missense_Mutation_p.Q809E	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	798	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CAAGCTCCCTCAGAAGGAACC	0.682																																						ENST00000401073.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(2569-2571)Cag>Gag		KIAA1522							25.0	29.0	28.0					1																	33237349		2024	4173	6197	SO:0001583	missense	57648							g.chr1:33237349C>G	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.2392C>G	1.37:g.33237349C>G	ENSP00000362579:p.Gln798Glu					KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Missense_Mutation_p.Q809E|KIAA1522_ENST00000373480.1_Missense_Mutation_p.Q798E	p.Q857E	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN			6	2639	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	798			Pro-rich.		B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Missense_Mutation	SNP	ENST00000373480.1	37	c.2569C>G	CCDS55588.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.043381	0.36085	.	.	ENSG00000162522	ENST00000401073;ENST00000373481;ENST00000373480	T;T;T	0.11930	2.73;2.74;2.75	4.53	2.45	0.29901	.	1.147120	0.06691	N	0.769717	T	0.08714	0.0216	N	0.22421	0.69	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.08055	0.003;0.003;0.003	T	0.32428	-0.9907	10	0.05833	T	0.94	-2.1337	8.7475	0.34596	0.0:0.633:0.2868:0.0801	.	809;798;857	Q9P206-3;Q9P206;Q9P206-2	.;K1522_HUMAN;.	E	857;809;798	ENSP00000383851:Q857E;ENSP00000362580:Q809E;ENSP00000362579:Q798E	ENSP00000362579:Q798E	Q	+	1	0	KIAA1522	33009936	0.000000	0.05858	0.171000	0.22900	0.770000	0.43624	0.233000	0.17911	0.990000	0.38787	0.650000	0.86243	CAG		0.682	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1			11	31	0	0	0	1	0	11	31				
COQ5	84274	broad.mit.edu	37	12	120954375	120954375	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:120954375C>G	ENST00000288532.6	-	3	609	c.569G>C	c.(568-570)aGa>aCa	p.R190T	COQ5_ENST00000445328.2_Intron	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	190					small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	methyltransferase activity (GO:0008168)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTCACCAGCTCTGTATCCTTG	0.428																																						ENST00000288532.6																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20						c.(568-570)aGa>aCa		coenzyme Q5 homolog, methyltransferase (S. cerevisiae)							285.0	280.0	282.0					12																	120954375		2203	4300	6503	SO:0001583	missense	84274				ubiquinone biosynthetic process	mitochondrion	methyltransferase activity	g.chr12:120954375C>G	AK057777	CCDS31912.1	12q24.31	2011-09-16	2006-04-04		ENSG00000110871	ENSG00000110871	2.1.1.201		28722	protein-coding gene	gene with protein product	"""2-methoxy-6-polyprenyl-1,4-benzoquinol methylase"""		"""coenzyme Q5 homolog, methyltransferase (yeast)"""				Standard	NM_032314		Approved	MGC4767	uc001tyn.3	Q5HYK3	OTTHUMG00000169375	ENST00000288532.6:c.569G>C	12.37:g.120954375C>G	ENSP00000288532:p.Arg190Thr					COQ5_ENST00000445328.2_Intron	p.R190T	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN			3	609	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		190					B4DEJ4|Q32Q28|Q53HH0|Q96LV1|Q9BSP8	Missense_Mutation	SNP	ENST00000288532.6	37	c.569G>C	CCDS31912.1	.	.	.	.	.	.	.	.	.	.	C	7.139	0.581423	0.13686	.	.	ENSG00000110871	ENST00000288532;ENST00000552443;ENST00000547943;ENST00000551769	T;T;T;T	0.67523	-0.27;0.03;1.05;-0.27	5.31	0.397	0.16314	.	0.527527	0.21169	N	0.079010	T	0.31136	0.0787	N	0.01751	-0.74	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.04005	-1.0985	10	0.13853	T	0.58	.	6.4446	0.21869	0.0:0.2371:0.4303:0.3326	.	190	Q5HYK3	COQ5_HUMAN	T	190;109;140;109	ENSP00000288532:R190T;ENSP00000449863:R109T;ENSP00000449874:R140T;ENSP00000450001:R109T	ENSP00000288532:R190T	R	-	2	0	COQ5	119438758	0.754000	0.28360	0.998000	0.56505	0.898000	0.52572	0.833000	0.27504	0.328000	0.23435	-0.484000	0.04775	AGA		0.428	COQ5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403767.2	NM_032314		96	321	0	0	0	1	0	96	321				
ZNF274	10782	broad.mit.edu	37	19	58718244	58718244	+	Silent	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:58718244G>C	ENST00000326804.4	+	5	873	c.414G>C	c.(412-414)ctG>ctC	p.L138L	ZNF274_ENST00000345813.3_Silent_p.L106L|ZNF274_ENST00000424679.2_Silent_p.L33L|ZNF274_ENST00000597818.1_3'UTR	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	138					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		ATGGAAGCCTGAGTGCAGATG	0.577																																						ENST00000326804.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21						c.(412-414)ctG>ctC		zinc finger protein 274							34.0	38.0	37.0					19																	58718244		2096	4227	6323	SO:0001819	synonymous_variant	10782				viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:58718244G>C	AB029149	CCDS74473.1, CCDS74474.1, CCDS74475.1, CCDS74476.1	19q13.43	2013-01-09				ENSG00000171606		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13068	protein-coding gene	gene with protein product		605467				10777669	Standard	NM_133502		Approved	ZKSCAN19, ZSCAN51	uc002qrs.1	Q96GC6		ENST00000326804.4:c.414G>C	19.37:g.58718244G>C						ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000345813.3_Silent_p.L106L|ZNF274_ENST00000424679.2_Silent_p.L33L	p.L138L	NM_133502.1	NP_598009.1	Q96GC6	ZN274_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)	5	873	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)	138					Q53XU4|Q6MZG1|Q8WY37|Q8WY38|Q92969|Q9UII0|Q9UII1	Silent	SNP	ENST00000326804.4	37	c.414G>C																																																																																					0.577	ZNF274-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_133502		8	22	0	0	0	1	0	8	22				
MKL2	57496	broad.mit.edu	37	16	14334318	14334318	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr16:14334318G>C	ENST00000341243.5	+	8	1023	c.1023G>C	c.(1021-1023)caG>caC	p.Q341H	MKL2_ENST00000318282.5_Missense_Mutation_p.Q352H|MKL2_ENST00000573051.1_Missense_Mutation_p.Q301H|MKL2_ENST00000571589.1_Missense_Mutation_p.Q352H|MKL2_ENST00000572567.1_Missense_Mutation_p.Q341H|MKL2_ENST00000574045.1_Missense_Mutation_p.Q352H			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	341					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACAACTACCAGACCATCCTGC	0.527																																						ENST00000571589.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1054-1056)caG>caC		MKL/myocardin-like 2							106.0	99.0	101.0					16																	14334318		2197	4300	6497	SO:0001583	missense	57496				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity	g.chr16:14334318G>C	AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.1023G>C	16.37:g.14334318G>C	ENSP00000345841:p.Gln341His					MKL2_ENST00000341243.5_Missense_Mutation_p.Q341H|MKL2_ENST00000318282.5_Missense_Mutation_p.Q352H|MKL2_ENST00000572567.1_Missense_Mutation_p.Q341H|MKL2_ENST00000573051.1_Missense_Mutation_p.Q301H|MKL2_ENST00000574045.1_Missense_Mutation_p.Q352H	p.Q352H	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN			10	1228	+			341					A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Missense_Mutation	SNP	ENST00000341243.5	37	c.1056G>C		.	.	.	.	.	.	.	.	.	.	G	18.84	3.709954	0.68730	.	.	ENSG00000186260	ENST00000318282;ENST00000389126;ENST00000341243	.	.	.	5.78	5.78	0.91487	.	0.114332	0.64402	D	0.000008	T	0.74558	0.3732	L	0.47716	1.5	0.58432	D	0.999999	D;D;D;D	0.89917	0.999;1.0;0.998;0.998	D;D;D;D	0.85130	0.997;0.996;0.957;0.996	T	0.69921	-0.5014	9	0.32370	T	0.25	-8.6206	18.9873	0.92777	0.0:0.0:1.0:0.0	.	301;352;341;352	Q9ULH7-2;B4DGT8;Q9ULH7;Q9ULH7-4	.;.;MKL2_HUMAN;.	H	352;341;341	.	ENSP00000339086:Q352H	Q	+	3	2	MKL2	14241819	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.622000	0.67750	2.724000	0.93272	0.655000	0.94253	CAG		0.527	MKL2-202	KNOWN	basic	protein_coding	protein_coding		NM_014048		21	102	0	0	0	1	0	21	102				
XYLB	9942	broad.mit.edu	37	3	38401877	38401877	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:38401877C>G	ENST00000207870.3	+	3	278	c.188C>G	c.(187-189)tCt>tGt	p.S63C	XYLB_ENST00000542835.1_Intron	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	63					carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|D-xylose metabolic process (GO:0042732)|generation of precursor metabolites and energy (GO:0006091)|xylulose catabolic process (GO:0005998)|xylulose metabolic process (GO:0005997)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|xylulokinase activity (GO:0004856)			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		ACGGTCACTTCTCCAGTACTA	0.532																																						ENST00000207870.3																			0				endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24						c.(187-189)tCt>tGt		xylulokinase homolog (H. influenzae)							264.0	205.0	225.0					3																	38401877		2203	4300	6503	SO:0001583	missense	9942				D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity	g.chr3:38401877C>G	AB015046	CCDS2678.1	3p22-p21.3	2006-12-18	2001-12-04		ENSG00000093217	ENSG00000093217			12839	protein-coding gene	gene with protein product		604049	"""xylulokinase (H. influenzae) homolog"""			9763671	Standard	NM_005108		Approved	FLJ10343, FLJ12539	uc003cic.2	O75191	OTTHUMG00000131294	ENST00000207870.3:c.188C>G	3.37:g.38401877C>G	ENSP00000207870:p.Ser63Cys					XYLB_ENST00000542835.1_Intron	p.S63C	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)	3	278	+			63					B2RAW4|B4DDT2|B9EH64	Missense_Mutation	SNP	ENST00000207870.3	37	c.188C>G	CCDS2678.1	.	.	.	.	.	.	.	.	.	.	C	18.63	3.664806	0.67700	.	.	ENSG00000093217	ENST00000207870	T	0.49432	0.78	5.32	4.44	0.53790	Carbohydrate kinase, FGGY, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.54727	0.1876	M	0.68952	2.095	0.80722	D	1	P	0.36874	0.572	B	0.44278	0.445	T	0.59026	-0.7531	10	0.56958	D	0.05	.	14.1162	0.65154	0.0:0.8483:0.1517:0.0	.	63	O75191	XYLB_HUMAN	C	63	ENSP00000207870:S63C	ENSP00000207870:S63C	S	+	2	0	XYLB	38376881	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.526000	0.73799	1.378000	0.46305	0.655000	0.94253	TCT		0.532	XYLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254062.2	NM_005108		19	83	0	0	0	1	0	19	83				
PDC	5132	broad.mit.edu	37	1	186418543	186418543	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:186418543C>T	ENST00000391997.2	-	2	136	c.49G>A	c.(49-51)Gcc>Acc	p.A17T	RP11-295K2.3_ENST00000429768.1_RNA|PDC_ENST00000456239.2_5'Flank|PDC_ENST00000497198.1_5'Flank|PDC_ENST00000340129.5_Missense_Mutation_p.A17T	NM_002597.4	NP_002588.3	P20941	PHOS_HUMAN	phosducin	17					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of catalytic activity (GO:0043086)|phototransduction (GO:0007602)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	phospholipase inhibitor activity (GO:0004859)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7		Breast(1374;1.53e-05)		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129)		GTATGTGTGGCCTGTCCTTCA	0.313																																						ENST00000391997.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7						c.(49-51)Gcc>Acc		phosducin							149.0	119.0	129.0					1																	186418543		2203	4300	6503	SO:0001583	missense	5132				G-protein coupled receptor protein signaling pathway|phototransduction|visual perception	actin cytoskeleton|cytosol|nucleus|photoreceptor inner segment|photoreceptor outer segment	phospholipase inhibitor activity	g.chr1:186418543C>T	AF076464	CCDS1370.1, CCDS41447.1	1q25.2	2013-01-08			ENSG00000116703	ENSG00000116703			8759	protein-coding gene	gene with protein product		171490				8288249	Standard	NM_022576		Approved	MEKA	uc001gsa.4	P20941	OTTHUMG00000035575	ENST00000391997.2:c.49G>A	1.37:g.186418543C>T	ENSP00000375855:p.Ala17Thr					PDC_ENST00000340129.5_Missense_Mutation_p.A17T	p.A17T	NM_002597.4	NP_002588.3	P20941	PHOS_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129)	2	136	-		Breast(1374;1.53e-05)	17					Q14816|Q9UP22|Q9UP23	Missense_Mutation	SNP	ENST00000391997.2	37	c.49G>A	CCDS1370.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.640017	0.87760	.	.	ENSG00000116703	ENST00000391997;ENST00000340129	T;T	0.14640	2.49;2.49	4.62	4.62	0.57501	Thioredoxin-like fold (1);Phosducin, thioredoxin-like domain (1);Phosducin, domain 2 (1);	0.056928	0.64402	D	0.000001	T	0.18759	0.0450	L	0.46947	1.48	0.80722	D	1	P	0.50819	0.939	P	0.47075	0.536	T	0.01356	-1.1376	10	0.39692	T	0.17	-6.3118	15.6659	0.77230	0.0:1.0:0.0:0.0	.	17	P20941	PHOS_HUMAN	T	17	ENSP00000375855:A17T;ENSP00000342033:A17T	ENSP00000342033:A17T	A	-	1	0	PDC	184685166	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.512000	0.67030	2.110000	0.64415	0.563000	0.77884	GCC		0.313	PDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086347.2	NM_022577		22	42	0	0	0	1	0	22	42				
LAMA2	3908	broad.mit.edu	37	6	129785590	129785590	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:129785590G>C	ENST00000421865.2	+	50	7197	c.7148G>C	c.(7147-7149)cGa>cCa	p.R2383P		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2383	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CTTGCCACACGAGACCTGGTA	0.408																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(7147-7149)cGa>cCa		laminin, alpha 2							229.0	193.0	205.0					6																	129785590		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129785590G>C	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.7148G>C	6.37:g.129785590G>C	ENSP00000400365:p.Arg2383Pro						p.R2383P	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	50	7197	+			2383			Laminin G-like 2.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.7148G>C	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.142355	0.37825	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.75704	-0.96	5.6	4.73	0.59995	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.331335	0.32002	N	0.006740	T	0.28499	0.0705	N	0.03608	-0.345	0.29509	N	0.854374	P;P	0.38642	0.641;0.641	B;B	0.40165	0.321;0.321	T	0.09122	-1.0689	9	.	.	.	.	4.2279	0.10589	0.2402:0.0:0.5923:0.1675	.	2384;2383	A6NF00;P24043	.;LAMA2_HUMAN	P	2383;2382;2383;401	ENSP00000400365:R2383P	.	R	+	2	0	LAMA2	129827283	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.850000	0.62889	1.356000	0.45884	0.655000	0.94253	CGA		0.408	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			50	140	0	0	0	1	0	50	140				
COL28A1	340267	broad.mit.edu	37	7	7412996	7412996	+	Silent	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr7:7412996C>T	ENST00000399429.3	-	32	2681	c.2541G>A	c.(2539-2541)gaG>gaA	p.E847E		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	847	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TAGCCACCTTCTCCACCTTAT	0.483																																						ENST00000399429.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42						c.(2539-2541)gaG>gaA		collagen, type XXVIII, alpha 1							92.0	88.0	89.0					7																	7412996		1981	4167	6148	SO:0001819	synonymous_variant	340267				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	g.chr7:7412996C>T	AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"""Collagens"""	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.2541G>A	7.37:g.7412996C>T							p.E847E	NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)	32	2681	-		Ovarian(82;0.0789)	847			VWFA 2.		A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Silent	SNP	ENST00000399429.3	37	c.2541G>A	CCDS43553.1																																																																																				0.483	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763		26	59	0	0	0	1	0	26	59				
SLC39A7	7922	broad.mit.edu	37	6	33170440	33170440	+	Silent	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:33170440G>C	ENST00000374677.3	+	5	1276	c.903G>C	c.(901-903)gtG>gtC	p.V301V	RXRB_ENST00000374685.4_5'Flank|RXRB_ENST00000413614.2_5'Flank|SLC39A7_ENST00000374675.3_Silent_p.V301V|RNY4P10_ENST00000365571.1_RNA|SLC39A7_ENST00000463972.1_3'UTR|RXRB_ENST00000374680.3_5'Flank|RXRB_ENST00000544186.1_5'Flank|HSD17B8_ENST00000374662.3_5'Flank	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	301					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						ATGGGCCAGTGAGACCTCAGA	0.478																																						ENST00000374677.3																			0				NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						c.(901-903)gtG>gtC		solute carrier family 39 (zinc transporter), member 7							39.0	42.0	41.0					6																	33170440		1236	2537	3773	SO:0001819	synonymous_variant	7922					endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity	g.chr6:33170440G>C	AF117221	CCDS43453.1	6p21.3	2014-01-28		2003-10-27	ENSG00000112473	ENSG00000112473		"""Solute carriers"""	4927	protein-coding gene	gene with protein product		601416	"""HLA class II region expressed gene KE4"""	HKE4		8812499, 1855816, 19246244, 15705588	Standard	NM_006979		Approved	H2-KE4, D6S2244E, KE4, RING5, ZIP7	uc003odf.3	Q92504	OTTHUMG00000031238	ENST00000374677.3:c.903G>C	6.37:g.33170440G>C						SLC39A7_ENST00000374675.3_Silent_p.V301V|SLC39A7_ENST00000463972.1_3'UTR	p.V301V	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN			5	1276	+			301					B0UXF6|Q5STP8|Q9UIQ0	Silent	SNP	ENST00000374677.3	37	c.903G>C	CCDS43453.1																																																																																				0.478	SLC39A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076499.2	NM_006979		15	33	0	0	0	1	0	15	33				
UTRN	7402	broad.mit.edu	37	6	144875972	144875972	+	Silent	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:144875972C>G	ENST00000367545.3	+	48	7077	c.7077C>G	c.(7075-7077)ctC>ctG	p.L2359L		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2359					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AGGCTCGACTCTATATTCTTC	0.418																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(7075-7077)ctC>ctG		utrophin							76.0	77.0	77.0					6																	144875972		2203	4300	6503	SO:0001819	synonymous_variant	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144875972C>G	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.7077C>G	6.37:g.144875972C>G							p.L2359L	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	48	7077	+		Ovarian(120;0.218)	2359					Q5SYY1|Q5SZ57|Q9UJ40	Silent	SNP	ENST00000367545.3	37	c.7077C>G	CCDS34547.1																																																																																				0.418	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			11	48	0	0	0	1	0	11	48				
NRK	203447	broad.mit.edu	37	X	105075066	105075066	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:105075066C>G	ENST00000243300.9	+	2	380	c.77C>G	c.(76-78)tCa>tGa	p.S26*	NRK_ENST00000536164.1_Nonsense_Mutation_p.S26*|NRK_ENST00000428173.2_Nonsense_Mutation_p.S26*	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	26	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GGAATATTCTCACTAGATAAA	0.274										HNSCC(51;0.14)																												ENST00000428173.2																			0				breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						c.(76-78)tCa>tGa		Nik related kinase							132.0	123.0	126.0					X																	105075066		1813	4069	5882	SO:0001587	stop_gained	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105075066C>G	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.77C>G	X.37:g.105075066C>G	ENSP00000434830:p.Ser26*	HNSCC(51;0.14)				NRK_ENST00000536164.1_Nonsense_Mutation_p.S26*|NRK_ENST00000243300.9_Nonsense_Mutation_p.S26*	p.S26*			Q7Z2Y5	NRK_HUMAN			2	380	+			26			Protein kinase.		Q32ND6|Q5H9K2|Q6ZMP2	Nonsense_Mutation	SNP	ENST00000243300.9	37	c.77C>G		.	.	.	.	.	.	.	.	.	.	C	38	6.677054	0.97755	.	.	ENSG00000123572	ENST00000243300;ENST00000428173;ENST00000536164	.	.	.	4.7	3.68	0.42216	.	0.000000	0.29964	N	0.010756	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	7.8199	0.29282	0.3213:0.6787:0.0:0.0	.	.	.	.	X	26	.	ENSP00000434830:S26X	S	+	2	0	NRK	104961722	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.304000	0.43655	2.049000	0.60858	0.594000	0.82650	TCA		0.274	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		16	68	0	0	0	1	0	16	68				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S168S(5)	lung(2)|urinary_tract(1)|endometrium(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(502-504)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.504C>T	9.37:g.20414340G>A						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S	p.S168S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	790	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		5	61	0	0	0	1	0	5	61				
C2orf78	388960	broad.mit.edu	37	2	74043451	74043451	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:74043451G>C	ENST00000409561.1	+	3	2222	c.2101G>C	c.(2101-2103)Gag>Cag	p.E701Q		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	701								p.E701Q(1)|p.E671Q(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						TGCTGAAAAAGAGTGTACATC	0.493																																						ENST00000409561.1																			2	Substitution - Missense(2)	p.E701Q(1)|p.E671Q(1)	lung(2)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						c.(2101-2103)Gag>Cag		chromosome 2 open reading frame 78							108.0	110.0	109.0					2																	74043451		1991	4161	6152	SO:0001583	missense	388960							g.chr2:74043451G>C	AC092653, AC136006, AK125975	CCDS46338.1	2p13.2	2008-07-18			ENSG00000187833	ENSG00000187833			34349	protein-coding gene	gene with protein product							Standard	NM_001080474		Approved	FLJ43987, hCG1989538, COG5373	uc002sjr.1	A6NCI8	OTTHUMG00000152819	ENST00000409561.1:c.2101G>C	2.37:g.74043451G>C	ENSP00000387124:p.Glu701Gln						p.E701Q	NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN			3	2222	+			701						Missense_Mutation	SNP	ENST00000409561.1	37	c.2101G>C	CCDS46338.1	.	.	.	.	.	.	.	.	.	.	G	2.752	-0.259763	0.05791	.	.	ENSG00000187833	ENST00000409561;ENST00000342345	T	0.53857	0.6	4.71	-2.52	0.06346	.	0.883066	0.09536	N	0.788843	T	0.39145	0.1067	L	0.37561	1.115	0.09310	N	1	B	0.27351	0.176	B	0.24541	0.054	T	0.25502	-1.0130	10	0.27785	T	0.31	-2.9906	12.4109	0.55466	0.0:0.6388:0.2308:0.1304	.	701	A6NCI8	CB078_HUMAN	Q	701;671	ENSP00000387124:E701Q	ENSP00000340692:E671Q	E	+	1	0	C2orf78	73896959	0.000000	0.05858	0.000000	0.03702	0.134000	0.20937	0.038000	0.13862	-0.237000	0.09739	-0.257000	0.10917	GAG		0.493	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328083.1	NM_001080474		27	103	0	0	0	1	0	27	103				
VTCN1	79679	broad.mit.edu	37	1	117699237	117699237	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:117699237G>C	ENST00000369458.3	-	3	482	c.404C>G	c.(403-405)tCt>tGt	p.S135C	VTCN1_ENST00000463461.1_5'UTR|VTCN1_ENST00000359008.4_Missense_Mutation_p.S138C|VTCN1_ENST00000539893.1_Missense_Mutation_p.S40C|VTCN1_ENST00000328189.3_Intron	NM_024626.3	NP_078902.2			V-set domain containing T cell activation inhibitor 1											large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		CTTGCCTTTAGAAGTGATGAT	0.403																																						ENST00000369458.3																			0				large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12						c.(403-405)tCt>tGt		V-set domain containing T cell activation inhibitor 1							71.0	72.0	71.0					1																	117699237		2203	4298	6501	SO:0001583	missense	79679					integral to membrane|plasma membrane		g.chr1:117699237G>C	BX648021	CCDS894.1, CCDS58019.1, CCDS58020.1	1p12	2013-01-29			ENSG00000134258	ENSG00000134258		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28873	protein-coding gene	gene with protein product	"""B7 family member, H4"", ""B7 superfamily member 1"""	608162				12818165, 12818166	Standard	NM_024626		Approved	B7-H4, FLJ22418, B7S1, B7X, B7H4	uc001ehb.3	Q7Z7D3	OTTHUMG00000012118	ENST00000369458.3:c.404C>G	1.37:g.117699237G>C	ENSP00000358470:p.Ser135Cys					VTCN1_ENST00000359008.4_Missense_Mutation_p.S138C|VTCN1_ENST00000328189.3_Intron|VTCN1_ENST00000463461.1_5'UTR|VTCN1_ENST00000539893.1_Missense_Mutation_p.S40C	p.S135C	NM_024626.3	NP_078902.2	Q7Z7D3	VTCN1_HUMAN		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)	3	482	-	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)	135			Ig-like V-type 1.			Missense_Mutation	SNP	ENST00000369458.3	37	c.404C>G	CCDS894.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.281884	0.40394	.	.	ENSG00000134258	ENST00000369458;ENST00000359008;ENST00000539893	T;T;T	0.68331	-0.32;-0.32;-0.32	6.14	5.24	0.73138	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.202787	0.35436	N	0.003215	T	0.73164	0.3552	M	0.74881	2.28	0.19945	N	0.999949	D	0.76494	0.999	D	0.72075	0.976	T	0.70048	-0.4979	10	0.72032	D	0.01	-10.4024	12.8938	0.58087	0.074:0.0:0.926:0.0	.	135	Q7Z7D3	VTCN1_HUMAN	C	135;138;40	ENSP00000358470:S135C;ENSP00000351899:S138C;ENSP00000444724:S40C	ENSP00000351899:S138C	S	-	2	0	VTCN1	117500760	0.972000	0.33761	0.140000	0.22221	0.240000	0.25518	3.251000	0.51453	1.623000	0.50342	0.637000	0.83480	TCT		0.403	VTCN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000033500.2	NM_024626		17	69	0	0	0	1	0	17	69				
WDR72	256764	broad.mit.edu	37	15	53992089	53992089	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr15:53992089G>A	ENST00000396328.1	-	13	1862	c.1623C>T	c.(1621-1623)ctC>ctT	p.L541L	WDR72_ENST00000559418.1_Silent_p.L551L|WDR72_ENST00000360509.5_Silent_p.L541L|WDR72_ENST00000557913.1_Silent_p.L538L	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	541										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CAAGGTGAAGGAGAGCCACGG	0.443																																						ENST00000396328.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71						c.(1621-1623)ctC>ctT		WD repeat domain 72							118.0	122.0	121.0					15																	53992089		2194	4293	6487	SO:0001819	synonymous_variant	256764							g.chr15:53992089G>A	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.1623C>T	15.37:g.53992089G>A						WDR72_ENST00000557913.1_Silent_p.L538L|WDR72_ENST00000559418.1_Silent_p.L551L|WDR72_ENST00000360509.5_Silent_p.L541L	p.L541L	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	13	1862	-			541					Q7Z3I3|Q8N8X2	Silent	SNP	ENST00000396328.1	37	c.1623C>T	CCDS10151.1																																																																																				0.443	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		35	118	0	0	0	1	0	35	118				
SIRT2	22933	broad.mit.edu	37	19	39369868	39369868	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:39369868G>A	ENST00000249396.7	-	16	1398	c.1097C>T	c.(1096-1098)tCa>tTa	p.S366L	RINL_ENST00000340740.3_5'Flank|RINL_ENST00000598904.1_5'Flank|RINL_ENST00000591812.1_5'Flank|SIRT2_ENST00000358931.5_3'UTR|SIRT2_ENST00000392081.2_Missense_Mutation_p.S329L	NM_012237.3	NP_036369.2	Q8IXJ6	SIR2_HUMAN	sirtuin 2	366					autophagy (GO:0006914)|cellular lipid catabolic process (GO:0044242)|cellular response to caloric restriction (GO:0061433)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to hypoxia (GO:0071456)|cellular response to molecule of bacterial origin (GO:0071219)|cellular response to oxidative stress (GO:0034599)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|chromatin silencing at telomere (GO:0006348)|gene silencing (GO:0016458)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|innate immune response (GO:0045087)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|myelination in peripheral nervous system (GO:0022011)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)|negative regulation of defense response to bacterium (GO:1900425)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of oligodendrocyte progenitor proliferation (GO:0070446)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of cell division (GO:0051781)|positive regulation of DNA binding (GO:0043388)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of meiosis (GO:0045836)|positive regulation of oocyte maturation (GO:1900195)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ADP-ribosylation (GO:0006471)|protein deacetylation (GO:0006476)|protein kinase B signaling (GO:0043491)|regulation of cell cycle (GO:0051726)|regulation of exit from mitosis (GO:0007096)|regulation of myelination (GO:0031641)|regulation of phosphorylation (GO:0042325)|response to redox state (GO:0051775)|ripoptosome assembly involved in necroptotic process (GO:1901026)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)	centriole (GO:0005814)|centrosome (GO:0005813)|chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|glial cell projection (GO:0097386)|juxtaparanode region of axon (GO:0044224)|lateral loop (GO:0043219)|meiotic spindle (GO:0072687)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|myelin sheath (GO:0043209)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|spindle (GO:0005819)	chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|NAD-dependent protein deacetylase activity (GO:0034979)|protein deacetylase activity (GO:0033558)|transcription factor binding (GO:0008134)|tubulin deacetylase activity (GO:0042903)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			GGGGGAAGCTGAAGTGCTGGG	0.647																																						ENST00000249396.7																			0				endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9						c.(1096-1098)tCa>tTa		sirtuin 2							52.0	51.0	51.0					19																	39369868		2203	4300	6503	SO:0001583	missense	22933				cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state	chromatin silencing complex|cytoplasm|microtubule	histone acetyltransferase binding|histone deacetylase binding|NAD+ binding|NAD-dependent histone deacetylase activity|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding	g.chr19:39369868G>A	AF083107	CCDS12523.1, CCDS46069.1, CCDS74361.1	19q13	2010-06-25	2010-06-25		ENSG00000068903	ENSG00000068903			10886	protein-coding gene	gene with protein product		604480	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 2"", ""sirtuin (silent mating type information regulation 2 homolog) 2 (S. cerevisiae)"""	SIR2L		10393250, 10381378	Standard	NM_012237		Approved		uc002ojt.2	Q8IXJ6	OTTHUMG00000150480	ENST00000249396.7:c.1097C>T	19.37:g.39369868G>A	ENSP00000249396:p.Ser366Leu					SIRT2_ENST00000392081.2_Missense_Mutation_p.S329L|SIRT2_ENST00000358931.5_3'UTR	p.S366L	NM_012237.3	NP_036369.2	Q8IXJ6	SIRT2_HUMAN	Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)		16	1398	-	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		366					A8K3V1|B2RB45|O95889|Q924Y7|Q9P0G8|Q9UNT0|Q9Y6E9|U5TP13	Missense_Mutation	SNP	ENST00000249396.7	37	c.1097C>T	CCDS12523.1	.	.	.	.	.	.	.	.	.	.	G	4.887	0.164874	0.09287	.	.	ENSG00000068903	ENST00000249396;ENST00000392081	T;T	0.30981	1.51;1.52	5.1	4.07	0.47477	.	1.607430	0.03561	N	0.227006	T	0.23649	0.0572	N	0.14661	0.345	0.22171	N	0.999318	B;B;B	0.27068	0.167;0.049;0.167	B;B;B	0.28011	0.053;0.024;0.085	T	0.26326	-1.0106	10	0.26408	T	0.33	-4.586	11.0988	0.48161	0.0881:0.0:0.9119:0.0	.	329;366;346	Q8IXJ6-2;Q8IXJ6;Q8IXJ6-3	.;SIRT2_HUMAN;.	L	366;329	ENSP00000249396:S366L;ENSP00000375931:S329L	ENSP00000249396:S366L	S	-	2	0	SIRT2	44061708	0.012000	0.17670	0.002000	0.10522	0.172000	0.22775	1.273000	0.33121	1.296000	0.44742	0.467000	0.42956	TCA		0.647	SIRT2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318278.1			15	40	0	0	0	1	0	15	40				
ATP2B2	491	broad.mit.edu	37	3	10443927	10443927	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:10443927G>A	ENST00000352432.4	-	3	572	c.503C>T	c.(502-504)aCg>aTg	p.T168M	ATP2B2_ENST00000360273.2_Missense_Mutation_p.T168M|ATP2B2_ENST00000343816.4_Missense_Mutation_p.T168M|ATP2B2_ENST00000397077.1_Missense_Mutation_p.T168M|ATP2B2_ENST00000383800.4_Missense_Mutation_p.T168M			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	168					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						ATTGAAGGCCGTGACCAGGAC	0.612																																					Ovarian(125;1619 1709 15675 19819 38835)	ENST00000397077.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						c.(502-504)aCg>aTg		ATPase, Ca++ transporting, plasma membrane 2							122.0	133.0	129.0					3																	10443927		2203	4300	6503	SO:0001583	missense	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10443927G>A	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.503C>T	3.37:g.10443927G>A	ENSP00000324172:p.Thr168Met					ATP2B2_ENST00000383800.4_Missense_Mutation_p.T168M|ATP2B2_ENST00000360273.2_Missense_Mutation_p.T168M|ATP2B2_ENST00000352432.4_Missense_Mutation_p.T168M|ATP2B2_ENST00000343816.4_Missense_Mutation_p.T168M	p.T168M			Q01814	AT2B2_HUMAN			6	1078	-			168					O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	c.503C>T	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.989256	0.93106	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	D;D;D;D;D;D	0.89552	-2.53;-2.53;-2.53;-2.53;-2.53;-2.53	5.43	5.43	0.79202	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.96334	0.8804	H	0.94183	3.505	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.973;0.987	D	0.97240	0.9890	10	0.87932	D	0	-23.7959	19.2437	0.93893	0.0:0.0:1.0:0.0	.	168;180;168	Q01814-7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	M	168;168;168;168;168;134;55;168	ENSP00000324172:T168M;ENSP00000373311:T168M;ENSP00000380267:T168M;ENSP00000353414:T168M;ENSP00000344677:T168M;ENSP00000414854:T55M	ENSP00000342954:T168M	T	-	2	0	ATP2B2	10418927	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	9.869000	0.99810	2.527000	0.85204	0.563000	0.77884	ACG		0.612	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		67	238	0	0	0	1	0	67	238				
ZNF675	171392	broad.mit.edu	37	19	23836960	23836960	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:23836960C>T	ENST00000359788.4	-	4	943	c.775G>A	c.(775-777)Gaa>Aaa	p.E259K	ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000601935.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	259					bone resorption (GO:0045453)|cytokine-mediated signaling pathway (GO:0019221)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CCACATTCTTCACATTTGTAT	0.358																																						ENST00000359788.4																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(775-777)Gaa>Aaa		zinc finger protein 675							64.0	69.0	67.0					19																	23836960		2203	4300	6503	SO:0001583	missense	171392				bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:23836960C>T		CCDS32981.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	30768	protein-coding gene	gene with protein product	"""TRAF6 inhibitory zinc finger"""					11751921	Standard	NM_138330		Approved	TIZ, TBZF	uc002nri.3	Q8TD23		ENST00000359788.4:c.775G>A	19.37:g.23836960C>T	ENSP00000352836:p.Glu259Lys					ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000596211.1_Intron	p.E259K	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN			4	943	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	259					Q8N211	Missense_Mutation	SNP	ENST00000359788.4	37	c.775G>A	CCDS32981.1	.	.	.	.	.	.	.	.	.	.	.	6.386	0.439269	0.12104	.	.	ENSG00000197372	ENST00000359788	T	0.07216	3.21	0.916	-0.317	0.12736	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07234	0.0183	N	0.05510	-0.035	0.09310	N	1	P	0.36874	0.572	P	0.56434	0.798	T	0.45542	-0.9254	9	0.13853	T	0.58	.	1.5422	0.02557	0.3062:0.269:0.0:0.4248	.	259	Q8TD23	ZN675_HUMAN	K	259	ENSP00000352836:E259K	ENSP00000352836:E259K	E	-	1	0	ZNF675	23628800	0.000000	0.05858	0.181000	0.23098	0.181000	0.23173	-3.673000	0.00397	0.300000	0.22699	0.305000	0.20034	GAA		0.358	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466433.1	NM_138330		26	45	0	0	0	1	0	26	45				
NDUFB9	4715	broad.mit.edu	37	8	125555355	125555355	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr8:125555355G>C	ENST00000276689.3	+	2	213	c.129G>C	c.(127-129)ttG>ttC	p.L43F	NDUFB9_ENST00000518008.1_Missense_Mutation_p.L43F|NDUFB9_ENST00000522532.1_Missense_Mutation_p.L43F|NDUFB9_ENST00000517367.1_Intron	NM_001278646.1|NM_005005.2	NP_001265575.1|NP_004996.1	Q9Y6M9	NDUB9_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa	43					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TTGCTTGTTTGATGAGAGCCC	0.448																																						ENST00000522532.1																			0				kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8						c.(127-129)ttG>ttC		NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa	NADH(DB00157)						89.0	87.0	87.0					8																	125555355		2203	4300	6503	SO:0001583	missense	4715				mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr8:125555355G>C	AF044956	CCDS6352.1	8q24.13	2011-07-04	2002-08-29		ENSG00000147684	ENSG00000147684		"""LYR motif containing"", ""Mitochondrial respiratory chain complex / Complex I"""	7704	protein-coding gene	gene with protein product	"""complex I B22 subunit"""	601445	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9 (22kD, B22)"""			8661098	Standard	NM_005005		Approved	B22, UQOR22, LYRM3	uc003yrg.4	Q9Y6M9	OTTHUMG00000165054	ENST00000276689.3:c.129G>C	8.37:g.125555355G>C	ENSP00000276689:p.Leu43Phe					NDUFB9_ENST00000517367.1_Intron|NDUFB9_ENST00000518008.1_Missense_Mutation_p.L43F|NDUFB9_ENST00000276689.3_Missense_Mutation_p.L43F	p.L43F			Q9Y6M9	NDUB9_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		2	176	+	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		43					B2R8M6|Q9UQE8	Missense_Mutation	SNP	ENST00000276689.3	37	c.129G>C	CCDS6352.1	.	.	.	.	.	.	.	.	.	.	G	19.82	3.898193	0.72639	.	.	ENSG00000147684	ENST00000276689;ENST00000518008;ENST00000522532	T;T;T	0.69175	-0.38;-0.38;-0.38	5.46	5.46	0.80206	.	0.074329	0.56097	D	0.000034	T	0.80607	0.4655	M	0.78049	2.395	0.80722	D	1	D;P	0.63880	0.993;0.843	D;P	0.70487	0.969;0.793	T	0.79174	-0.1912	10	0.33940	T	0.23	-19.0718	14.8398	0.70214	0.0:0.2643:0.7357:0.0	.	43;43	E9PF49;Q9Y6M9	.;NDUB9_HUMAN	F	43	ENSP00000276689:L43F;ENSP00000428282:L43F;ENSP00000431115:L43F	ENSP00000276689:L43F	L	+	3	2	NDUFB9	125624536	0.995000	0.38212	0.991000	0.47740	0.991000	0.79684	2.300000	0.43620	2.559000	0.86315	0.655000	0.94253	TTG		0.448	NDUFB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381606.1	NM_005005		18	48	0	0	0	1	0	18	48				
DBX1	120237	broad.mit.edu	37	11	20178619	20178619	+	Missense_Mutation	SNP	C	C	G	rs575803112		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:20178619C>G	ENST00000524983.2	-	3	924	c.636G>C	c.(634-636)aaG>aaC	p.K212N	DBX1_ENST00000227256.3_Missense_Mutation_p.K212N			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	212					regulation of transcription from RNA polymerase II promoter (GO:0006357)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.K212N(1)		endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						CCGCCAGCTTCTTGCGGTCGG	0.667																																						ENST00000524983.2																			1	Substitution - Missense(1)	p.K212N(1)	lung(1)	endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						c.(634-636)aaG>aaC		developing brain homeobox 1							43.0	45.0	44.0					11																	20178619		2203	4300	6503	SO:0001583	missense	120237				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:20178619C>G			11p15.1	2011-06-20				ENSG00000109851		"""Homeoboxes / ANTP class : NKL subclass"""	33185	protein-coding gene	gene with protein product						11239429	Standard	NM_001029865		Approved		uc021qey.1	A6NMT0		ENST00000524983.2:c.636G>C	11.37:g.20178619C>G	ENSP00000436881:p.Lys212Asn					DBX1_ENST00000227256.3_Missense_Mutation_p.K212N	p.K212N			A6NMT0	DBX1_HUMAN			3	924	-			212						Missense_Mutation	SNP	ENST00000524983.2	37	c.636G>C		.	.	.	.	.	.	.	.	.	.	C	18.06	3.539107	0.65085	.	.	ENSG00000109851	ENST00000524983;ENST00000227256	D;D	0.96396	-4.0;-4.0	4.48	3.56	0.40772	.	0.000000	0.85682	D	0.000000	D	0.91068	0.7189	L	0.27975	0.815	0.80722	D	1	P	0.41848	0.763	B	0.33960	0.173	D	0.90808	0.4699	10	0.87932	D	0	-24.8622	11.9573	0.52988	0.0:0.9136:0.0:0.0864	.	212	F8W811	.	N	212	ENSP00000436881:K212N;ENSP00000227256:K212N	ENSP00000227256:K212N	K	-	3	2	DBX1	20135195	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.976000	0.49289	1.179000	0.42884	0.650000	0.86243	AAG		0.667	DBX1-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000387585.2	NM_001029865		10	44	0	0	0	1	0	10	44				
DNAH5	1767	broad.mit.edu	37	5	13721250	13721250	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:13721250G>C	ENST00000265104.4	-	71	12242	c.12138C>G	c.(12136-12138)atC>atG	p.I4046M		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4046	AAA 6. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACAGGAGACAGATGAGTGGCG	0.498									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(12136-12138)atC>atG		dynein, axonemal, heavy chain 5							126.0	127.0	127.0					5																	13721250		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13721250G>C	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.12138C>G	5.37:g.13721250G>C	ENSP00000265104:p.Ile4046Met						p.I4046M	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			71	12242	-	Lung NSC(4;0.00476)		4046			AAA 6 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.12138C>G	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.474715	0.63737	.	.	ENSG00000039139	ENST00000265104	T	0.10288	2.89	5.18	4.3	0.51218	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.46092	0.1375	H	0.97829	4.085	0.58432	D	0.999998	D	0.76494	0.999	D	0.73708	0.981	T	0.61108	-0.7129	10	0.87932	D	0	.	10.2055	0.43109	0.0744:0.0:0.7832:0.1425	.	4046	Q8TE73	DYH5_HUMAN	M	4046	ENSP00000265104:I4046M	ENSP00000265104:I4046M	I	-	3	3	DNAH5	13774250	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	3.897000	0.56273	1.280000	0.44463	0.557000	0.71058	ATC		0.498	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		32	90	0	0	0	1	0	32	90				
FAM222A	84915	broad.mit.edu	37	12	110206655	110206655	+	Silent	SNP	G	G	T	rs538694450		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:110206655G>T	ENST00000538780.1	+	3	1637	c.921G>T	c.(919-921)acG>acT	p.T307T	FAM222A-AS1_ENST00000541723.1_RNA|FAM222A_ENST00000358906.3_Silent_p.T307T|FAM222A-AS1_ENST00000541460.1_RNA	NM_032829.2	NP_116218.2	Q5U5X8	F222A_HUMAN	family with sequence similarity 222, member A	307																	GTGGGAGCACGGTGGCCAGCA	0.706													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14167	0.0		0.0	False		,,,				2504	0.0					ENST00000538780.1																			0											c.(919-921)acG>acT		family with sequence similarity 222, member A							6.0	7.0	7.0					12																	110206655		2120	4176	6296	SO:0001819	synonymous_variant	84915							g.chr12:110206655G>T	AK027627	CCDS9133.1	12q24.11	2012-04-27	2012-04-27	2012-04-27	ENSG00000139438	ENSG00000139438			25915	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 34"""	C12orf34		12477932	Standard	NM_032829		Approved	FLJ14721	uc001tpd.2	Q5U5X8	OTTHUMG00000169260	ENST00000538780.1:c.921G>T	12.37:g.110206655G>T						FAM222A-AS1_ENST00000541460.1_RNA|FAM222A_ENST00000358906.3_Silent_p.T307T|FAM222A-AS1_ENST00000541723.1_RNA	p.T307T	NM_032829.2	NP_116218.2	Q5U5X8	CL034_HUMAN			3	1637	+			307					Q8NCD5|Q96SP6	Silent	SNP	ENST00000538780.1	37	c.921G>T	CCDS9133.1																																																																																				0.706	FAM222A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403175.1	NM_032829		3	3	1	0	6.4e-05	1	6.47499e-05	3	3				
SCNN1B	6338	broad.mit.edu	37	16	23383141	23383141	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr16:23383141G>A	ENST00000343070.2	+	7	1265	c.1089G>A	c.(1087-1089)gtG>gtA	p.V363V	SCNN1B_ENST00000568085.1_Intron|SCNN1B_ENST00000307331.5_Silent_p.V408V|SCNN1B_ENST00000568923.1_Silent_p.V336V	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	363					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	CGTGCACCGTGAATGGTTCTG	0.602																																						ENST00000343070.2																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32						c.(1087-1089)gtG>gtA		sodium channel, non-voltage-gated 1, beta subunit	Amiloride(DB00594)|Triamterene(DB00384)						168.0	151.0	157.0					16																	23383141		2197	4300	6497	SO:0001819	synonymous_variant	6338				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23383141G>A	X87159	CCDS10609.1	16p12.2-p12.1	2012-02-28	2012-02-28		ENSG00000168447	ENSG00000168447		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10600	protein-coding gene	gene with protein product	"""Liddle syndrome"""	600760	"""sodium channel, nonvoltage-gated 1, beta"", ""sodium channel, non-voltage-gated 1, beta"""				Standard	NM_000336		Approved	ENaCbeta	uc002dln.3	P51168	OTTHUMG00000131608	ENST00000343070.2:c.1089G>A	16.37:g.23383141G>A						SCNN1B_ENST00000568923.1_Silent_p.V336V|SCNN1B_ENST00000568085.1_Intron|SCNN1B_ENST00000307331.5_Silent_p.V408V	p.V363V	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN		GBM - Glioblastoma multiforme(48;0.0465)	7	1265	+			363					C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	Silent	SNP	ENST00000343070.2	37	c.1089G>A	CCDS10609.1																																																																																				0.602	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254495.2			33	133	0	0	0	1	0	33	133				
SPTBN1	6711	broad.mit.edu	37	2	54856156	54856156	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:54856156G>T	ENST00000356805.4	+	14	2166	c.1885G>T	c.(1885-1887)Gag>Tag	p.E629*	SPTBN1_ENST00000333896.5_Nonsense_Mutation_p.E616*	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	629					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GCTGGCGGCTGAGCGCAGGGC	0.577																																						ENST00000333896.5																			0				NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82						c.(1846-1848)Gag>Tag		spectrin, beta, non-erythrocytic 1							62.0	72.0	68.0					2																	54856156		2203	4300	6503	SO:0001587	stop_gained	6711				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54856156G>T		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.1885G>T	2.37:g.54856156G>T	ENSP00000349259:p.Glu629*					SPTBN1_ENST00000356805.4_Nonsense_Mutation_p.E629*	p.E616*	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	Lung(47;0.24)		13	2231	+			629					B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Nonsense_Mutation	SNP	ENST00000356805.4	37	c.1846G>T	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	G	41	8.870176	0.98984	.	.	ENSG00000115306	ENST00000356805;ENST00000389980;ENST00000333896	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	19.6322	0.95713	0.0:0.0:1.0:0.0	.	.	.	.	X	629;629;616	.	ENSP00000334156:E616X	E	+	1	0	SPTBN1	54709660	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	7.949000	0.87791	2.652000	0.90054	0.655000	0.94253	GAG		0.577	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			47	123	1	0	2.46787e-29	1	2.71466e-29	47	123				
SRCIN1	80725	broad.mit.edu	37	17	36704828	36704828	+	Missense_Mutation	SNP	C	C	T	rs201458548		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:36704828C>T	ENST00000264659.7	-	17	3459	c.3235G>A	c.(3235-3237)Gag>Aag	p.E1079K	SRCIN1_ENST00000398579.4_5'UTR|SRCIN1_ENST00000578925.1_Missense_Mutation_p.E1113K	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	951					exocytosis (GO:0006887)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	protein kinase binding (GO:0019901)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						TCGTCATCCTCGTCCTTGATG	0.672													C|||	1	0.000199681	0.0	0.0	5008	,	,		15422	0.0		0.001	False		,,,				2504	0.0					ENST00000264659.7																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						c.(3235-3237)Gag>Aag		SRC kinase signaling inhibitor 1		C	LYS/GLU	0,4208		0,0,2104	83.0	87.0	86.0		3235	4.1	1.0	17		86	3,8407		0,3,4202	yes	missense	SRCIN1	NM_025248.2	56	0,3,6306	TT,TC,CC		0.0357,0.0,0.0238	possibly-damaging	1079/1184	36704828	3,12615	2104	4205	6309	SO:0001583	missense	80725				exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding	g.chr17:36704828C>T		CCDS45660.1	17q12	2009-12-14			ENSG00000017373	ENSG00000277363			29506	protein-coding gene	gene with protein product	"""p130Cas-associated protein"", ""SNAP-25-interacting protein"""	610786				11214970	Standard	NM_025248		Approved	SNIP, p140Cap, KIAA1684	uc002hqd.3	Q9C0H9		ENST00000264659.7:c.3235G>A	17.37:g.36704828C>T	ENSP00000264659:p.Glu1079Lys					SRCIN1_ENST00000398579.4_5'UTR|SRCIN1_ENST00000578925.1_Missense_Mutation_p.E1113K	p.E1079K	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN			17	3459	-			951					Q75T46|Q8N4W8	Missense_Mutation	SNP	ENST00000264659.7	37	c.3235G>A	CCDS45660.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	26.9	4.783424	0.90282	0.0	3.57E-4	ENSG00000017373	ENST00000264659;ENST00000542707;ENST00000398579	T	0.53857	0.6	5.06	4.09	0.47781	.	0.343099	0.29106	N	0.013127	T	0.50326	0.1609	M	0.61703	1.905	0.47511	D	0.999442	D;P;D	0.56287	0.975;0.948;0.975	B;B;B	0.42851	0.4;0.24;0.4	T	0.59364	-0.7468	10	0.72032	D	0.01	-30.903	11.8411	0.52355	0.0:0.9128:0.0:0.0872	.	951;951;1079	Q9C0H9-2;Q9C0H9;Q9C0H9-5	.;SRCN1_HUMAN;.	K	1079;860;933	ENSP00000264659:E1079K	ENSP00000264659:E1079K	E	-	1	0	SRCIN1	33958354	1.000000	0.71417	0.997000	0.53966	0.966000	0.64601	5.590000	0.67530	2.351000	0.79841	0.462000	0.41574	GAG		0.672	SRCIN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441878.4	NM_025248		28	71	0	0	0	1	0	28	71				
PNO1	56902	broad.mit.edu	37	2	68385190	68385190	+	Missense_Mutation	SNP	G	G	A	rs61735656		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:68385190G>A	ENST00000263657.2	+	1	215	c.124G>A	c.(124-126)Ggg>Agg	p.G42R	RP11-474G23.1_ENST00000406334.3_Missense_Mutation_p.P167L|WDR92_ENST00000492039.2_5'Flank|WDR92_ENST00000295121.6_5'Flank|WDR92_ENST00000409164.1_5'Flank|WDR92_ENST00000406245.2_5'Flank	NM_020143.2	NP_064528.1	Q9NRX1	PNO1_HUMAN	partner of NOB1 homolog (S. cerevisiae)	42						nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(2)	4						AGGAGAGGGCGGGGATGCGGG	0.692																																					NSCLC(83;642 1410 13044 32832 40058)	ENST00000263657.2																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(124-126)Ggg>Agg		partner of NOB1 homolog (S. cerevisiae)							20.0	28.0	25.0					2																	68385190		2202	4297	6499	SO:0001583	missense	56902					nucleolus	RNA binding	g.chr2:68385190G>A	AF164799	CCDS1885.1	2p14	2010-07-06			ENSG00000115946	ENSG00000115946			32790	protein-coding gene	gene with protein product	"""RNA binding protein"""		"""KH-type RNA binding protein 1"", ""KH-type RNA-binding protein 1"""	KHRBP1		15497447	Standard	NM_020143		Approved	RRP20	uc002seh.3	Q9NRX1	OTTHUMG00000129563	ENST00000263657.2:c.124G>A	2.37:g.68385190G>A	ENSP00000263657:p.Gly42Arg						p.G42R	NM_020143.2	NP_064528.1	Q9NRX1	PNO1_HUMAN			1	215	+			42					A8K6Q0|Q53G13|Q8WVB8	Missense_Mutation	SNP	ENST00000263657.2	37	c.124G>A	CCDS1885.1	.	.	.	.	.	.	.	.	.	.	G	10.15	1.271916	0.23221	.	.	ENSG00000115946	ENST00000263657	T	0.41758	0.99	6.03	2.24	0.28232	.	.	.	.	.	T	0.21590	0.0520	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20075	-1.0286	9	0.19590	T	0.45	2.5216	5.3129	0.15841	0.2975:0.1805:0.5219:0.0	.	42	Q9NRX1	PNO1_HUMAN	R	42	ENSP00000263657:G42R	ENSP00000263657:G42R	G	+	1	0	PNO1	68238694	0.076000	0.21285	0.007000	0.13788	0.011000	0.07611	2.514000	0.45503	0.889000	0.36185	0.655000	0.94253	GGG		0.692	PNO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251756.1	NM_020143		10	35	0	0	0	1	0	10	35				
ANK3	288	broad.mit.edu	37	10	61828923	61828923	+	Missense_Mutation	SNP	A	A	T	rs142931189		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr10:61828923A>T	ENST00000280772.2	-	37	11907	c.11716T>A	c.(11716-11718)Tgt>Agt	p.C3906S	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3906					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ACATCTACACATGAAGAAGTA	0.403																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(11716-11718)Tgt>Agt		ankyrin 3, node of Ranvier (ankyrin G)		A	,,,SER/CYS	1,4405	2.1+/-5.4	0,1,2202	248.0	238.0	242.0		,,,11716	4.2	1.0	10	dbSNP_134	242	0,8600		0,0,4300	no	intron,intron,intron,missense	ANK3	NM_001149.3,NM_001204403.1,NM_001204404.1,NM_020987.3	,,,112	0,1,6502	TT,TA,AA		0.0,0.0227,0.0077	,,,possibly-damaging	,,,3906/4378	61828923	1,13005	2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61828923A>T	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.11716T>A	10.37:g.61828923A>T	ENSP00000280772:p.Cys3906Ser					ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	p.C3906S	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	11907	-			3906					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.11716T>A	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	A	0.003	-2.429104	0.00184	2.27E-4	0.0	ENSG00000151150	ENST00000280772	T	0.39406	1.08	5.3	4.15	0.48705	.	0.000000	0.46145	D	0.000319	T	0.20088	0.0483	N	0.14661	0.345	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.10636	-1.0621	10	0.02654	T	1	.	8.3139	0.32088	0.844:0.0:0.156:0.0	.	3906	Q12955	ANK3_HUMAN	S	3906	ENSP00000280772:C3906S	ENSP00000280772:C3906S	C	-	1	0	ANK3	61498929	1.000000	0.71417	1.000000	0.80357	0.270000	0.26580	2.764000	0.47613	0.952000	0.37798	0.460000	0.39030	TGT		0.403	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		61	170	0	0	0	1	0	61	170				
NF1	4763	broad.mit.edu	37	17	29684058	29684058	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:29684058G>A	ENST00000358273.4	+	53	8202	c.7819G>A	c.(7819-7821)Gaa>Aaa	p.E2607K	NF1_ENST00000444181.2_Missense_Mutation_p.E400K|NF1_ENST00000356175.3_Missense_Mutation_p.E2586K|NF1_ENST00000417592.2_3'UTR	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2607					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCTCTTGGATGAAGAAGTACT	0.418			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(7819-7821)Gaa>Aaa		neurofibromin 1							187.0	179.0	182.0					17																	29684058		2203	4300	6503	SO:0001583	missense	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29684058G>A		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.7819G>A	17.37:g.29684058G>A	ENSP00000351015:p.Glu2607Lys	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Missense_Mutation_p.E2586K|NF1_ENST00000444181.2_Missense_Mutation_p.E400K|NF1_ENST00000417592.2_3'UTR	p.E2607K	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	53	8202	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	2607					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.7819G>A	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.688331	0.88639	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735;ENST00000444181	T;T;T;T	0.48201	3.1;3.25;2.94;0.82	5.87	4.91	0.64330	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.60869	0.2302	L	0.47716	1.5	0.80722	D	1	D;B;P	0.62365	0.991;0.002;0.92	D;B;B	0.66497	0.944;0.006;0.444	T	0.63629	-0.6594	10	0.59425	D	0.04	.	15.3748	0.74596	0.0668:0.0:0.9332:0.0	.	400;2586;2607	B4DXH1;P21359-2;P21359	.;.;NF1_HUMAN	K	2607;2586;2252;400	ENSP00000351015:E2607K;ENSP00000348498:E2586K;ENSP00000389907:E2252K;ENSP00000396481:E400K	ENSP00000348498:E2586K	E	+	1	0	NF1	26708184	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.085000	0.76875	1.632000	0.50472	-0.140000	0.14226	GAA		0.418	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		60	118	0	0	0	1	0	60	118				
FGR	2268	broad.mit.edu	37	1	27948071	27948071	+	Splice_Site	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:27948071C>T	ENST00000374005.3	-	5	715	c.427G>A	c.(427-429)Gag>Aag	p.E143K	FGR_ENST00000545953.1_Intron|FGR_ENST00000468038.1_5'Flank|FGR_ENST00000399173.1_Splice_Site_p.E143K|FGR_ENST00000374004.1_Splice_Site_p.E143K	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	FGR proto-oncogene, Src family tyrosine kinase	143					blood coagulation (GO:0007596)|defense response to Gram-positive bacterium (GO:0050830)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of innate immune response (GO:0045088)|regulation of phagocytosis (GO:0050764)|regulation of protein kinase activity (GO:0045859)|response to virus (GO:0009615)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|Fc-gamma receptor I complex binding (GO:0034988)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphotyrosine binding (GO:0001784)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CCTACTTACTCTTCAGCTTGG	0.567																																						ENST00000374005.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16						c.e5+1		feline Gardner-Rasheed sarcoma viral oncogene homolog							113.0	96.0	102.0					1																	27948071		2203	4300	6503	SO:0001630	splice_region_variant	2268				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:27948071C>T	BC064382	CCDS305.1	1p36.2-p36.1	2014-06-25	2014-06-25		ENSG00000000938	ENSG00000000938		"""SH2 domain containing"""	3697	protein-coding gene	gene with protein product		164940	"""Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog"", ""v-fgr feline Gardner-Rasheed sarcoma viral oncogene homolog"", ""feline Gardner-Rasheed sarcoma viral oncogene homolog"""	SRC2		3922831	Standard	NM_001042729		Approved	c-fgr, p55c-fgr	uc001bom.3	P09769	OTTHUMG00000003516	ENST00000374005.3:c.428+1G>A	1.37:g.27948071C>T						FGR_ENST00000399173.1_Splice_Site_p.E143_splice|FGR_ENST00000374004.1_Splice_Site_p.E143_splice|FGR_ENST00000545953.1_Intron	p.E143_splice	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	5	715	-		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	143					D3DPL7|Q9UIQ3	Splice_Site	SNP	ENST00000374005.3	37	c.428_splice	CCDS305.1	.	.	.	.	.	.	.	.	.	.	C	19.26	3.793667	0.70452	.	.	ENSG00000000938	ENST00000374005;ENST00000399173;ENST00000374004;ENST00000374003;ENST00000457296	D;D;D;D;D	0.92805	-3.11;-3.11;-3.11;-3.11;-3.11	4.93	4.93	0.64822	SH2 motif (2);	0.351731	0.23573	N	0.046731	D	0.89694	0.6789	L	0.60957	1.885	0.41624	D	0.988983	B	0.31655	0.334	B	0.22601	0.04	D	0.89096	0.3486	10	0.48119	T	0.1	.	17.1075	0.86667	0.0:1.0:0.0:0.0	.	143	P09769	FGR_HUMAN	K	143	ENSP00000363117:E143K;ENSP00000382126:E143K;ENSP00000363116:E143K;ENSP00000363115:E143K;ENSP00000407670:E143K	ENSP00000363115:E143K	E	-	1	0	FGR	27820658	1.000000	0.71417	1.000000	0.80357	0.721000	0.41392	7.753000	0.85153	2.440000	0.82611	0.555000	0.69702	GAG		0.567	FGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009772.1	NM_005248	Missense_Mutation	10	48	0	0	0	1	0	10	48				
PTX4	390667	broad.mit.edu	37	16	1536008	1536008	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr16:1536008C>T	ENST00000447419.2	-	3	1394	c.1369G>A	c.(1369-1371)Gcc>Acc	p.A457T	PTX4_ENST00000440447.2_3'UTR|PTX4_ENST00000293922.1_Missense_Mutation_p.A452T			Q96A99	PTX4_HUMAN	pentraxin 4, long	457	Pentaxin.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						GCAGCATTGGCCAGCGTCAGG	0.637																																						ENST00000447419.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						c.(1369-1371)Gcc>Acc		pentraxin 4, long							50.0	51.0	51.0					16																	1536008		2199	4300	6499	SO:0001583	missense	390667					extracellular region	metal ion binding	g.chr16:1536008C>T		CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"""chromosome 16 open reading frame 38"""	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.1369G>A	16.37:g.1536008C>T	ENSP00000445277:p.Ala457Thr					PTX4_ENST00000440447.2_3'UTR|PTX4_ENST00000293922.1_Missense_Mutation_p.A452T	p.A457T			Q96A99	PTX4_HUMAN			3	1394	-			457			Pentaxin.			Missense_Mutation	SNP	ENST00000447419.2	37	c.1369G>A		.	.	.	.	.	.	.	.	.	.	C	10.76	1.442367	0.25987	.	.	ENSG00000251692	ENST00000447419;ENST00000293922	T;T	0.05786	3.54;3.39	5.21	4.25	0.50352	.	0.397068	0.24669	N	0.036579	T	0.05686	0.0149	L	0.39397	1.21	0.19575	N	0.999963	B	0.34226	0.443	B	0.33121	0.158	T	0.34054	-0.9844	10	0.11485	T	0.65	.	10.7083	0.45969	0.0:0.9045:0.0:0.0955	.	452	Q96A99-2	.	T	457;452	ENSP00000445277:A457T;ENSP00000293922:A452T	ENSP00000293922:A452T	A	-	1	0	PTX4	1476009	0.913000	0.31002	0.033000	0.17914	0.120000	0.20174	2.302000	0.43637	1.183000	0.42943	0.563000	0.77884	GCC		0.637	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432526.1	NM_001013658		12	37	0	0	0	1	0	12	37				
C17orf77	146723	broad.mit.edu	37	17	72588340	72588340	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:72588340A>G	ENST00000392620.1	+	3	517	c.155A>G	c.(154-156)cAt>cGt	p.H52R	C17orf77_ENST00000328023.2_Missense_Mutation_p.H52R|CD300LD_ENST00000375352.1_Start_Codon_SNP_p.M1T	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN	chromosome 17 open reading frame 77	52						extracellular region (GO:0005576)				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						GGACAGCCACATGGTCCTGTC	0.562																																						ENST00000392620.1																			0				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						c.(154-156)cAt>cGt		chromosome 17 open reading frame 77							83.0	83.0	83.0					17																	72588340		2203	4300	6503	SO:0001583	missense	146723					extracellular region		g.chr17:72588340A>G		CCDS32721.1	17q25.1	2006-01-16			ENSG00000182352	ENSG00000182352			26480	protein-coding gene	gene with protein product							Standard	NM_152460		Approved	FLJ31882	uc002jla.1	Q96MU5	OTTHUMG00000067611	ENST00000392620.1:c.155A>G	17.37:g.72588340A>G	ENSP00000376396:p.His52Arg					CD300LD_ENST00000375352.1_Start_Codon_SNP_p.M1T|C17orf77_ENST00000328023.2_Missense_Mutation_p.H52R	p.H52R	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN			3	517	+			52						Missense_Mutation	SNP	ENST00000392620.1	37	c.155A>G	CCDS32721.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.47|10.47	1.359200|1.359200	0.24598|0.24598	.|.	.|.	ENSG00000182352|ENSG00000204345	ENST00000392620;ENST00000328023|ENST00000375352	T;T|T	0.52526|0.05199	0.66;0.66|3.48	4.18|4.18	0.387|0.387	0.16259|0.16259	.|.	.|2.474950	.|0.01849	.|N	.|0.035835	T|T	0.06600|0.06600	0.0169|0.0169	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999997|0.999997	B|B	0.32573|0.22800	0.376|0.075	B|B	0.30316|0.14023	0.114|0.01	T|T	0.39800|0.39800	-0.9596|-0.9596	7|9	.|0.87932	.|D	.|0	.|.	6.6661|6.6661	0.23041|0.23041	0.6405:0.0:0.3595:0.0|0.6405:0.0:0.3595:0.0	.|.	52|1	Q96MU5|Q6UXZ3	CQ077_HUMAN|CLM4_HUMAN	R|T	52|1	ENSP00000376396:H52R;ENSP00000329353:H52R|ENSP00000364501:M1T	.|ENSP00000364501:M1T	H|M	+|-	2|2	0|0	C17orf77|CD300LD	70099935|70099935	0.497000|0.497000	0.26067|0.26067	0.198000|0.198000	0.23420|0.23420	0.186000|0.186000	0.23388|0.23388	0.676000|0.676000	0.25247|0.25247	-0.052000|-0.052000	0.13311|0.13311	0.496000|0.496000	0.49642|0.49642	CAT|ATG		0.562	C17orf77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145090.2	NM_152460		22	43	0	0	0	1	0	22	43				
PGM2L1	283209	broad.mit.edu	37	11	74054047	74054047	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:74054047C>G	ENST00000298198.4	-	11	1636	c.1325G>C	c.(1324-1326)gGa>gCa	p.G442A		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	442					glucose metabolic process (GO:0006006)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	glucose-1,6-bisphosphate synthase activity (GO:0047933)|intramolecular transferase activity, phosphotransferases (GO:0016868)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					AACTGAAGTTCCACAGAGAAA	0.383																																						ENST00000298198.4																			0				NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1324-1326)gGa>gCa		phosphoglucomutase 2-like 1							100.0	105.0	103.0					11																	74054047		2200	4293	6493	SO:0001583	missense	283209				glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity	g.chr11:74054047C>G	AB019210	CCDS8231.1	11q13.3	2008-12-01			ENSG00000165434	ENSG00000165434			20898	protein-coding gene	gene with protein product	"""glucose-1,6-bisphosphate synthase"""	611610				17804405	Standard	NM_173582		Approved	FLJ32029, BM32A	uc001ovb.1	Q6PCE3	OTTHUMG00000168132	ENST00000298198.4:c.1325G>C	11.37:g.74054047C>G	ENSP00000298198:p.Gly442Ala						p.G442A	NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN			11	1636	-	Breast(11;3.32e-06)		442					Q96MQ7|Q9UIK3	Missense_Mutation	SNP	ENST00000298198.4	37	c.1325G>C	CCDS8231.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.415964	0.83449	.	.	ENSG00000165434	ENST00000298198	T	0.42900	0.96	5.15	5.15	0.70609	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);Alpha-D-phosphohexomutase, alpha/beta/alpha domain III (1);	0.000000	0.85682	D	0.000000	T	0.61788	0.2375	M	0.69463	2.115	0.80722	D	1	P	0.51449	0.945	D	0.65233	0.933	T	0.62053	-0.6935	10	0.54805	T	0.06	-20.0665	16.1647	0.81745	0.0:1.0:0.0:0.0	.	442	Q6PCE3	PGM2L_HUMAN	A	442	ENSP00000298198:G442A	ENSP00000298198:G442A	G	-	2	0	PGM2L1	73731695	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.587000	0.82613	2.657000	0.90304	0.591000	0.81541	GGA		0.383	PGM2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398324.1	NM_173582		26	81	0	0	0	1	0	26	81				
FILIP1L	11259	broad.mit.edu	37	3	99568511	99568511	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:99568511G>A	ENST00000354552.3	-	5	2479	c.2009C>T	c.(2008-2010)gCt>gTt	p.A670V	CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000331335.5_Missense_Mutation_p.A670V|FILIP1L_ENST00000471562.1_Missense_Mutation_p.A430V|FILIP1L_ENST00000383694.2_Missense_Mutation_p.A430V|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000487087.1_Missense_Mutation_p.A246V|FILIP1L_ENST00000476723.1_Intron	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	670						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TAAAAATTGAGCTTTGTCTCG	0.373																																						ENST00000331335.5																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(2008-2010)gCt>gTt		filamin A interacting protein 1-like							138.0	123.0	127.0					3																	99568511		1858	4103	5961	SO:0001583	missense	11259					cytoplasm|membrane|myosin complex|nucleus		g.chr3:99568511G>A		CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"""downregulated in ovarian cancer 1"", ""GPBP-interacting protein of 130 kDa"""	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.2009C>T	3.37:g.99568511G>A	ENSP00000346560:p.Ala670Val					FILIP1L_ENST00000354552.3_Missense_Mutation_p.A670V|FILIP1L_ENST00000487087.1_Missense_Mutation_p.A246V|CMSS1_ENST00000421999.2_Intron|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000471562.1_Missense_Mutation_p.A430V|FILIP1L_ENST00000383694.2_Missense_Mutation_p.A430V	p.A670V	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN			5	2479	-			670					B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Missense_Mutation	SNP	ENST00000354552.3	37	c.2009C>T	CCDS43117.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.805166	0.50315	.	.	ENSG00000168386	ENST00000354552;ENST00000487087;ENST00000471562;ENST00000331335;ENST00000383694;ENST00000441620;ENST00000495625	T;T;T;T;T;T	0.32988	1.76;1.52;1.43;1.76;1.44;1.49	5.76	5.76	0.90799	.	0.000000	0.50627	D	0.000111	T	0.51618	0.1685	L	0.54323	1.7	0.51482	D	0.999925	D;D	0.76494	0.999;0.999	D;D	0.70935	0.971;0.936	T	0.24012	-1.0172	10	0.26408	T	0.33	-11.4694	19.9772	0.97314	0.0:0.0:1.0:0.0	.	670;670	Q4L180-2;Q4L180	.;FIL1L_HUMAN	V	670;246;430;670;430;416;430	ENSP00000346560:A670V;ENSP00000417774:A246V;ENSP00000419642:A430V;ENSP00000327880:A670V;ENSP00000373192:A430V;ENSP00000419874:A430V	ENSP00000327880:A670V	A	-	2	0	FILIP1L	101051201	1.000000	0.71417	0.999000	0.59377	0.586000	0.36452	7.842000	0.86851	2.724000	0.93272	0.563000	0.77884	GCT		0.373	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	NM_014890		24	72	0	0	0	1	0	24	72				
COG7	91949	broad.mit.edu	37	16	23417451	23417451	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr16:23417451C>G	ENST00000307149.5	-	12	1793	c.1608G>C	c.(1606-1608)caG>caC	p.Q536H		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	536					intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to Golgi apparatus (GO:0034067)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		GGTTATCTTTCTGGAGGTAAT	0.433																																						ENST00000307149.5																			0				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27						c.(1606-1608)caG>caC		component of oligomeric golgi complex 7							123.0	128.0	126.0					16																	23417451		2197	4300	6497	SO:0001583	missense	91949				intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:23417451C>G	AF070568	CCDS10610.1	16p12.2	2008-02-05			ENSG00000168434	ENSG00000168434		"""Components of oligomeric golgi complex"""	18622	protein-coding gene	gene with protein product		606978				11980916	Standard	NM_153603		Approved		uc002dlo.3	P83436	OTTHUMG00000094807	ENST00000307149.5:c.1608G>C	16.37:g.23417451C>G	ENSP00000305442:p.Gln536His						p.Q536H	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN		GBM - Glioblastoma multiforme(48;0.0401)	12	1793	-			536					Q6UWU7	Missense_Mutation	SNP	ENST00000307149.5	37	c.1608G>C	CCDS10610.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.608816	0.66558	.	.	ENSG00000168434	ENST00000307149	T	0.46451	0.87	5.7	2.68	0.31781	.	0.050906	0.85682	D	0.000000	T	0.46983	0.1421	L	0.44542	1.39	0.46416	D	0.999036	D	0.57571	0.98	P	0.56788	0.806	T	0.37337	-0.9710	10	0.45353	T	0.12	-20.2914	10.7881	0.46417	0.0:0.7916:0.0:0.2084	.	536	P83436	COG7_HUMAN	H	536	ENSP00000305442:Q536H	ENSP00000305442:Q536H	Q	-	3	2	COG7	23324952	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.679000	0.46909	0.772000	0.33382	0.655000	0.94253	CAG		0.433	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211625.1			57	130	0	0	0	1	0	57	130				
CACNA2D1	781	broad.mit.edu	37	7	81591337	81591337	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr7:81591337C>T	ENST00000356253.5	-	36	3130	c.2875G>A	c.(2875-2877)Gag>Aag	p.E959K	CACNA2D1_ENST00000535308.1_Missense_Mutation_p.E159K|CACNA2D1_ENST00000356860.3_Missense_Mutation_p.E947K			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	959					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	TCCTCCATCTCAACTTGGGTG	0.478																																						ENST00000356860.3																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(2839-2841)Gag>Aag		calcium channel, voltage-dependent, alpha 2/delta subunit 1	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						104.0	98.0	100.0					7																	81591337		2203	4300	6503	SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81591337C>T	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.2875G>A	7.37:g.81591337C>T	ENSP00000348589:p.Glu959Lys					CACNA2D1_ENST00000356253.5_Missense_Mutation_p.E959K|CACNA2D1_ENST00000535308.1_Missense_Mutation_p.E159K	p.E947K	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN			36	3177	-			959					Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.2839G>A		.	.	.	.	.	.	.	.	.	.	C	13.65	2.300496	0.40694	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000535308	T;T;T	0.72942	-0.7;-0.7;-0.7	5.19	5.19	0.71726	.	0.466412	0.25578	N	0.029708	T	0.61924	0.2386	L	0.29908	0.895	0.58432	D	0.99999	B;B	0.13594	0.008;0.004	B;B	0.20384	0.029;0.012	T	0.55398	-0.8147	10	0.22109	T	0.4	-7.2702	19.123	0.93371	0.0:1.0:0.0:0.0	.	159;947	B7Z658;P54289-2	.;.	K	947;966;959;159	ENSP00000349320:E947K;ENSP00000348589:E959K;ENSP00000443124:E159K	ENSP00000284088:E966K	E	-	1	0	CACNA2D1	81429273	1.000000	0.71417	0.998000	0.56505	0.832000	0.47134	6.714000	0.74692	2.591000	0.87537	0.650000	0.86243	GAG		0.478	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				16	32	0	0	0	1	0	16	32				
TAF6L	10629	broad.mit.edu	37	11	62543912	62543912	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:62543912C>A	ENST00000294168.3	+	3	405	c.204C>A	c.(202-204)ttC>ttA	p.F68L	TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	68					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|histone H3 acetylation (GO:0043966)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	histone deacetylase complex (GO:0000118)|STAGA complex (GO:0030914)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						TTGAGGACTTCAACAGGGCCC	0.572																																						ENST00000294168.3																			0				endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						c.(202-204)ttC>ttA		TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa							100.0	88.0	92.0					11																	62543912		2201	4299	6500	SO:0001583	missense	10629				chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity	g.chr11:62543912C>A	BC008785	CCDS8035.1	11q12.3	2008-02-01	2002-08-29		ENSG00000162227	ENSG00000162227			17305	protein-coding gene	gene with protein product		602946	"""TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"""			9674425	Standard	NM_006473		Approved	PAF65A	uc001nvc.3	Q9Y6J9	OTTHUMG00000167610	ENST00000294168.3:c.204C>A	11.37:g.62543912C>A	ENSP00000294168:p.Phe68Leu					TMEM223_ENST00000527073.1_Intron	p.F68L	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN			3	405	+			68					B2RAT0|Q96HA6	Missense_Mutation	SNP	ENST00000294168.3	37	c.204C>A	CCDS8035.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.890373	0.52014	.	.	ENSG00000162227	ENST00000294168;ENST00000529509	T;T	0.39997	1.05;1.05	5.08	4.17	0.49024	Histone-fold (2);TATA box binding protein associated factor (TAF) (2);	0.000000	0.85682	D	0.000000	T	0.30947	0.0781	L	0.40543	1.245	0.80722	D	1	B;B	0.10296	0.002;0.003	B;B	0.09377	0.004;0.004	T	0.09185	-1.0686	10	0.30854	T	0.27	-0.4396	8.1028	0.30868	0.0:0.8158:0.0:0.1842	.	68;68	B4DVM4;Q9Y6J9	.;TAF6L_HUMAN	L	68	ENSP00000294168:F68L;ENSP00000434662:F68L	ENSP00000294168:F68L	F	+	3	2	TAF6L	62300488	0.998000	0.40836	1.000000	0.80357	0.894000	0.52154	0.607000	0.24209	1.287000	0.44583	0.555000	0.69702	TTC		0.572	TAF6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395352.1	NM_006473		19	51	1	0	3.32936e-07	1	3.41245e-07	19	51				
KIF13A	63971	broad.mit.edu	37	6	17772181	17772181	+	Silent	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:17772181C>T	ENST00000259711.6	-	37	4539	c.4434G>A	c.(4432-4434)aaG>aaA	p.K1478K	KIF13A_ENST00000378816.5_Silent_p.K1478K|KIF13A_ENST00000378826.2_Silent_p.K1478K|KIF13A_ENST00000378814.5_Silent_p.K1465K|KIF13A_ENST00000378843.2_Silent_p.K1465K	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1478					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CTATCCTTTTCTTATGCTCCT	0.463																																						ENST00000378814.5																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(4393-4395)aaG>aaA		kinesin family member 13A							256.0	242.0	246.0					6																	17772181		1932	4137	6069	SO:0001819	synonymous_variant	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17772181C>T	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.4434G>A	6.37:g.17772181C>T						KIF13A_ENST00000259711.6_Silent_p.K1478K|KIF13A_ENST00000378826.2_Silent_p.K1478K|KIF13A_ENST00000378816.5_Silent_p.K1478K|KIF13A_ENST00000378843.2_Silent_p.K1465K	p.K1465K	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		36	4394	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	1478					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Silent	SNP	ENST00000259711.6	37	c.4395G>A	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	C	9.482	1.098336	0.20552	.	.	ENSG00000137177	ENST00000358380	.	.	.	5.6	2.87	0.33458	.	.	.	.	.	T	0.41351	0.1155	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27773	-1.0064	4	.	.	.	.	7.5394	0.27729	0.0:0.5435:0.0:0.4565	.	.	.	.	K	872	.	.	R	-	2	0	KIF13A	17880160	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	2.104000	0.41815	0.412000	0.25729	0.650000	0.86243	AGA		0.463	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			107	217	0	0	0	1	0	107	217				
RBP3	5949	broad.mit.edu	37	10	48388538	48388538	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr10:48388538G>A	ENST00000224600.4	-	1	2453	c.2340C>T	c.(2338-2340)atC>atT	p.I780I	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	780	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	AGCGCAGGTCGATCACCAGCG	0.612																																						ENST00000224600.4																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(2338-2340)atC>atT		retinol binding protein 3, interstitial	Vitamin A(DB00162)						32.0	29.0	30.0					10																	48388538		2201	4300	6501	SO:0001819	synonymous_variant	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48388538G>A	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.2340C>T	10.37:g.48388538G>A							p.I780I	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN			1	2453	-			780			4 X approximate tandem repeats.		Q0QD34|Q5VSR0|Q8IXN0	Silent	SNP	ENST00000224600.4	37	c.2340C>T	CCDS7218.1																																																																																				0.612	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		13	32	0	0	0	1	0	13	32				
AASS	10157	broad.mit.edu	37	7	121766480	121766480	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr7:121766480C>G	ENST00000393376.1	-	3	516	c.421G>C	c.(421-423)Gat>Cat	p.D141H	AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Missense_Mutation_p.D141H			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	141	Lysine-ketoglutarate reductase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						CCTCTATGATCCACCATTTTC	0.408																																						ENST00000393376.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						c.(421-423)Gat>Cat		aminoadipate-semialdehyde synthase	L-Glutamic Acid(DB00142)|NADH(DB00157)						263.0	251.0	256.0					7																	121766480		2203	4300	6503	SO:0001583	missense	10157				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	g.chr7:121766480C>G	AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.421G>C	7.37:g.121766480C>G	ENSP00000377040:p.Asp141His					AASS_ENST00000417368.2_Missense_Mutation_p.D141H|AASS_ENST00000473553.1_Intron	p.D141H			Q9UDR5	AASS_HUMAN			3	516	-			141			Lysine-ketoglutarate reductase.		O95462	Missense_Mutation	SNP	ENST00000393376.1	37	c.421G>C	CCDS5783.1	.	.	.	.	.	.	.	.	.	.	.	29.9	5.043871	0.93685	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	T;T	0.78481	-1.18;-1.18	5.5	5.5	0.81552	Alanine dehydrogenase/PNT, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91606	0.7348	M	0.93594	3.435	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93363	0.6728	10	0.87932	D	0	-20.8225	19.4392	0.94811	0.0:1.0:0.0:0.0	.	141	Q9UDR5	AASS_HUMAN	H	141	ENSP00000377040:D141H;ENSP00000403768:D141H	ENSP00000351834:D141H	D	-	1	0	AASS	121553716	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.048000	0.71046	2.604000	0.88044	0.644000	0.83932	GAT		0.408	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763		60	198	0	0	0	1	0	60	198				
CNOT1	23019	broad.mit.edu	37	16	58581184	58581184	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr16:58581184G>A	ENST00000317147.5	-	27	3988	c.3656C>T	c.(3655-3657)tCa>tTa	p.S1219L	CNOT1_ENST00000245138.4_Missense_Mutation_p.S70L|CNOT1_ENST00000569240.1_Missense_Mutation_p.S1214L|CNOT1_ENST00000441024.2_Missense_Mutation_p.S1219L|SNORA46_ENST00000384762.1_RNA	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1219	Interaction with CNOT6, CNOT6L, CNOT7 and CNOT8.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TAGCAGCAATGATTTCACATC	0.378																																						ENST00000317147.5																			0				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87						c.(3655-3657)tCa>tTa		CCR4-NOT transcription complex, subunit 1							101.0	103.0	102.0					16																	58581184		2198	4300	6498	SO:0001583	missense	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58581184G>A	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.3656C>T	16.37:g.58581184G>A	ENSP00000320949:p.Ser1219Leu					CNOT1_ENST00000245138.4_Missense_Mutation_p.S70L|CNOT1_ENST00000569240.1_Missense_Mutation_p.S1214L|CNOT1_ENST00000441024.2_Missense_Mutation_p.S1219L	p.S1219L	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	27	3988	-			1219					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.3656C>T	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	G	36	5.638003	0.96693	.	.	ENSG00000125107	ENST00000317147;ENST00000245138;ENST00000394200;ENST00000441024	T;T	0.15952	2.38;2.38	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.39989	0.1099	L	0.58810	1.83	0.80722	D	1	D;D;D;D	0.76494	0.999;0.981;0.999;0.999	D;D;D;D	0.70716	0.97;0.962;0.922;0.956	T	0.01102	-1.1451	10	0.33940	T	0.23	.	20.0425	0.97596	0.0:0.0:1.0:0.0	.	70;1219;1219;1214	B5MDN3;A5YKK6-4;A5YKK6;A5YKK6-2	.;.;CNOT1_HUMAN;.	L	1219;70;1214;1219	ENSP00000320949:S1219L;ENSP00000413113:S1219L	ENSP00000245138:S70L	S	-	2	0	CNOT1	57138685	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.020000	0.88740	2.745000	0.94114	0.650000	0.86243	TCA		0.378	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		24	75	0	0	0	1	0	24	75				
MDGA1	266727	broad.mit.edu	37	6	37606334	37606334	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:37606334G>A	ENST00000434837.3	-	15	3824	c.2646C>T	c.(2644-2646)atC>atT	p.I882I	MDGA1_ENST00000297153.7_Silent_p.I886I|MDGA1_ENST00000505425.1_Silent_p.I882I	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	882	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						CACTGGGGCTGATGGGCACAT	0.627																																						ENST00000434837.2																			0				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						c.(2644-2646)atC>atT		MAM domain containing glycosylphosphatidylinositol anchor 1							49.0	56.0	54.0					6																	37606334		1997	4154	6151	SO:0001819	synonymous_variant	266727				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane		g.chr6:37606334G>A	AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.2646C>T	6.37:g.37606334G>A						MDGA1_ENST00000297153.7_Silent_p.I886I|MDGA1_ENST00000505425.1_Silent_p.I882I	p.I882I	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN			15	3824	-			882			MAM.		A6NHG0|Q8NBE3	Silent	SNP	ENST00000434837.3	37	c.2646C>T	CCDS47417.1																																																																																				0.627	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040419.3			24	68	0	0	0	1	0	24	68				
ELK4	2005	broad.mit.edu	37	1	205589294	205589294	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:205589294C>T	ENST00000357992.4	-	3	1219	c.880G>A	c.(880-882)Gag>Aag	p.E294K	ELK4_ENST00000289703.4_Missense_Mutation_p.E294K|ELK4_ENST00000468523.1_5'Flank	NM_001973.3	NP_001964.2	P28324	ELK4_HUMAN	ELK4, ETS-domain protein (SRF accessory protein 1)	294					cell differentiation (GO:0030154)|histone H3 deacetylation (GO:0070932)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)		SLC45A3/ELK4(18)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			GACAAATTCTCTGGAAGTTCC	0.443			T	SLC45A3	prostate																																	ENST00000357992.4				Dom	yes		1	1q32	2005	T	"""ELK4, ETS-domain protein (SRF accessory protein 1)"""			E	SLC45A3		prostate	SLC45A3/ELK4(18)	0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12						c.(880-882)Gag>Aag		ELK4, ETS-domain protein (SRF accessory protein 1)							125.0	134.0	131.0					1																	205589294		2203	4300	6503	SO:0001583	missense	2005							g.chr1:205589294C>T	M85165	CCDS1456.1, CCDS1457.1	1q32	2008-02-05			ENSG00000158711	ENSG00000158711			3326	protein-coding gene	gene with protein product		600246				7851904, 8575773	Standard	NM_001973		Approved	SAP1		P28324	OTTHUMG00000037221	ENST00000357992.4:c.880G>A	1.37:g.205589294C>T	ENSP00000350681:p.Glu294Lys					ELK4_ENST00000289703.4_Missense_Mutation_p.E294K	p.E294K	NM_001973.3	NP_001964.2			BRCA - Breast invasive adenocarcinoma(75;0.0908)		3	1219	-	Breast(84;0.07)							P28323|Q6GSJ2	Missense_Mutation	SNP	ENST00000357992.4	37	c.880G>A	CCDS1456.1	.	.	.	.	.	.	.	.	.	.	C	7.807	0.714791	0.15306	.	.	ENSG00000158711	ENST00000539916;ENST00000357992;ENST00000289703	T;T	0.31769	1.72;1.48	5.91	4.98	0.66077	.	0.369019	0.33772	N	0.004578	T	0.16938	0.0407	N	0.14661	0.345	0.36672	D	0.87857	B;B	0.31548	0.328;0.104	B;B	0.34242	0.178;0.039	T	0.06789	-1.0807	10	0.05959	T	0.93	.	12.6639	0.56830	0.0:0.6734:0.3266:0.0	.	294;294	P28324-2;P28324	.;ELK4_HUMAN	K	384;294;294	ENSP00000350681:E294K;ENSP00000289703:E294K	ENSP00000289703:E294K	E	-	1	0	ELK4	203855917	0.956000	0.32656	0.972000	0.41901	0.892000	0.51952	1.687000	0.37680	2.813000	0.96785	0.655000	0.94253	GAG		0.443	ELK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090615.1	NM_021795		56	134	0	0	0	1	0	56	134				
ZNF582	147948	broad.mit.edu	37	19	56895260	56895260	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:56895260C>T	ENST00000301310.4	-	5	1684	c.1526G>A	c.(1525-1527)gGa>gAa	p.G509E	ZNF582_ENST00000586929.1_Missense_Mutation_p.G509E	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	509					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		CCCATTACTTCCATTCATATG	0.398																																					Ovarian(183;1887 2032 4349 30507 51343)	ENST00000301310.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1525-1527)gGa>gAa		zinc finger protein 582							162.0	156.0	158.0					19																	56895260		2203	4300	6503	SO:0001583	missense	147948				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56895260C>T	AK055489	CCDS33121.1	19q13.43	2013-07-15			ENSG00000018869	ENSG00000018869		"""Zinc fingers, C2H2-type"", ""-"""	26421	protein-coding gene	gene with protein product		615600				12477932	Standard	NM_144690		Approved	FLJ30927	uc002qmz.1	Q96NG8	OTTHUMG00000181939	ENST00000301310.4:c.1526G>A	19.37:g.56895260C>T	ENSP00000301310:p.Gly509Glu					ZNF582_ENST00000586929.1_Missense_Mutation_p.G509E	p.G509E	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN		GBM - Glioblastoma multiforme(193;0.0547)	5	1684	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	509					B4DQZ9|B7Z9R3|Q6PJT6	Missense_Mutation	SNP	ENST00000301310.4	37	c.1526G>A	CCDS33121.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.322226	0.41096	.	.	ENSG00000018869	ENST00000301310	T	0.06142	3.34	3.91	-1.35	0.09114	.	0.472647	0.15858	N	0.241151	T	0.03434	0.0099	N	0.19112	0.55	0.09310	N	0.999995	B;B	0.15719	0.014;0.014	B;B	0.15052	0.012;0.012	T	0.37126	-0.9719	10	0.87932	D	0	.	2.7765	0.05349	0.3198:0.4343:0.1473:0.0986	.	509;540	Q96NG8;B4DQZ9	ZN582_HUMAN;.	E	509	ENSP00000301310:G509E	ENSP00000301310:G509E	G	-	2	0	ZNF582	61587072	0.058000	0.20735	0.010000	0.14722	0.049000	0.14656	-0.170000	0.09897	0.054000	0.16065	0.655000	0.94253	GGA		0.398	ZNF582-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458387.2	NM_144690		43	86	0	0	0	1	0	43	86				
LRRK2	120892	broad.mit.edu	37	12	40626086	40626086	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:40626086C>G	ENST00000298910.7	+	3	306	c.248C>G	c.(247-249)tCa>tGa	p.S83*	LRRK2_ENST00000343742.2_Nonsense_Mutation_p.S83*	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	83					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GTGGGTTGGTCACTTCTGTGC	0.388																																						ENST00000298910.7																			0				NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181						c.(247-249)tCa>tGa		leucine-rich repeat kinase 2							121.0	118.0	119.0					12																	40626086		2203	4300	6503	SO:0001587	stop_gained	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40626086C>G	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.248C>G	12.37:g.40626086C>G	ENSP00000298910:p.Ser83*					LRRK2_ENST00000343742.2_Nonsense_Mutation_p.S83*	p.S83*	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN			3	306	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	83					A6NJU2|Q6ZS50|Q8NCX9	Nonsense_Mutation	SNP	ENST00000298910.7	37	c.248C>G	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	C	36	5.885543	0.97068	.	.	ENSG00000188906	ENST00000416796;ENST00000343742;ENST00000298910	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.0984	0.93263	0.0:1.0:0.0:0.0	.	.	.	.	X	12;83;83	.	ENSP00000298910:S83X	S	+	2	0	LRRK2	38912353	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.526000	0.60566	2.794000	0.96219	0.650000	0.86243	TCA		0.388	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		18	47	0	0	0	1	0	18	47				
GAL	51083	broad.mit.edu	37	11	68455511	68455511	+	Missense_Mutation	SNP	G	G	A	rs149894151		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:68455511G>A	ENST00000265643.3	+	4	424	c.166G>A	c.(166-168)Gac>Aac	p.D56N		NM_015973.3	NP_057057.2	P22466	GALA_HUMAN	galanin/GMAP prepropeptide	56					cAMP-mediated signaling (GO:0019933)|feeding behavior (GO:0007631)|inflammatory response (GO:0006954)|insulin secretion (GO:0030073)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of root hair elongation (GO:1902891)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catagen (GO:0051795)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of large conductance calcium-activated potassium channel activity (GO:1902608)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein kinase A signaling (GO:0010737)|regulation of glucocorticoid metabolic process (GO:0031943)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to insulin (GO:0032868)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|secretory granule (GO:0030141)	neuropeptide hormone activity (GO:0005184)|type 1 galanin receptor binding (GO:0031764)|type 2 galanin receptor binding (GO:0031765)|type 3 galanin receptor binding (GO:0031766)			lung(4)	4	Esophageal squamous(3;7.33e-10)	Melanoma(852;0.0749)	LUAD - Lung adenocarcinoma(13;0.0514)	Kidney(183;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.000152)|LUSC - Lung squamous cell carcinoma(976;0.00154)		GTCATTCAGCGACAAGAATGG	0.592																																						ENST00000265643.3																			0				lung(4)	4						c.(166-168)Gac>Aac		galanin/GMAP prepropeptide		G	ASN/ASP	1,4399	2.1+/-5.4	0,1,2199	89.0	75.0	80.0		166	4.0	0.9	11	dbSNP_134	80	2,8586	2.2+/-6.3	0,2,4292	yes	missense	GAL	NM_015973.3	23	0,3,6491	AA,AG,GG		0.0233,0.0227,0.0231	possibly-damaging	56/124	68455511	3,12985	2200	4294	6494	SO:0001583	missense	51083				growth hormone secretion|insulin secretion|neuropeptide signaling pathway|smooth muscle contraction	extracellular region	neuropeptide hormone activity	g.chr11:68455511G>A	L11144	CCDS8183.1	11q13.2	2013-02-26	2012-10-23		ENSG00000069482	ENSG00000069482		"""Endogenous ligands"""	4114	protein-coding gene	gene with protein product	"""galanin-message-associated peptide"", ""galanin/GMAP prepropeptide"""	137035	"""galanin"", ""galanin prepropeptide"""	GALN		7508413	Standard	XM_006718580		Approved	GMAP, GAL-GMAP, GLNN	uc001oob.3	P22466	OTTHUMG00000167890	ENST00000265643.3:c.166G>A	11.37:g.68455511G>A	ENSP00000265643:p.Asp56Asn						p.D56N	NM_015973.3	NP_057057.2	P22466	GALA_HUMAN	LUAD - Lung adenocarcinoma(13;0.0514)	Kidney(183;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.000152)|LUSC - Lung squamous cell carcinoma(976;0.00154)	4	424	+	Esophageal squamous(3;7.33e-10)	Melanoma(852;0.0749)	56					Q14413	Missense_Mutation	SNP	ENST00000265643.3	37	c.166G>A	CCDS8183.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.910115	0.52439	2.27E-4	2.33E-4	ENSG00000069482	ENST00000265643	T	0.57752	0.38	4.03	4.03	0.46877	Galanin (3);	0.112217	0.64402	D	0.000020	T	0.64594	0.2612	M	0.72894	2.215	0.39235	D	0.963741	D	0.69078	0.997	P	0.58013	0.831	T	0.71354	-0.4618	10	0.72032	D	0.01	-27.0511	11.5673	0.50813	0.0:0.0:1.0:0.0	.	56	P22466	GALA_HUMAN	N	56	ENSP00000265643:D56N	ENSP00000265643:D56N	D	+	1	0	GAL	68212087	1.000000	0.71417	0.885000	0.34714	0.014000	0.08584	5.025000	0.64097	2.079000	0.62486	0.655000	0.94253	GAC		0.592	GAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396843.2	NM_001479		12	48	0	0	0	1	0	12	48				
ARL13A	392509	broad.mit.edu	37	X	100240808	100240808	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:100240808G>A	ENST00000450049.2	+	4	396	c.283G>A	c.(283-285)Gtc>Atc	p.V95I		NM_001162491.1	NP_001155963.1	Q5H913	AR13A_HUMAN	ADP-ribosylation factor-like 13A	95					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			endometrium(1)|ovary(1)	2						GCTTGTTTTCGTCCTGGATTC	0.468																																						ENST00000450049.2																			0				endometrium(1)|ovary(1)	2						c.(283-285)Gtc>Atc		ADP-ribosylation factor-like 13A							93.0	87.0	89.0					X																	100240808		1950	4142	6092	SO:0001583	missense	392509						GTP binding	g.chrX:100240808G>A		CCDS55463.1	Xq22.1	2014-05-09	2005-11-18	2005-11-18	ENSG00000174225	ENSG00000174225		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	31709	protein-coding gene	gene with protein product			"""ADP-ribosylation factor-like 13"""	ARL13			Standard	NM_001162491		Approved		uc011mrf.2	Q5H913	OTTHUMG00000022013	ENST00000450049.2:c.283G>A	X.37:g.100240808G>A	ENSP00000398637:p.Val95Ile						p.V95I	NM_001162491.1	NP_001155963.1	Q5H913	AR13A_HUMAN			4	396	+			95					B2RTT6|B4DX50	Missense_Mutation	SNP	ENST00000450049.2	37	c.283G>A	CCDS55463.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.281331	0.59758	.	.	ENSG00000174225	ENST00000450049	D	0.88975	-2.45	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	D	0.93906	0.8050	M	0.82193	2.58	0.41319	D	0.987168	D;D	0.89917	1.0;1.0	D;D	0.76071	0.981;0.987	D	0.94318	0.7551	10	0.87932	D	0	.	11.6418	0.51237	0.0:0.0:1.0:0.0	.	95;95	B2RTT6;Q5H913	.;AR13A_HUMAN	I	95	ENSP00000398637:V95I	ENSP00000398637:V95I	V	+	1	0	ARL13A	100127464	1.000000	0.71417	1.000000	0.80357	0.285000	0.27093	4.353000	0.59411	2.522000	0.85027	0.594000	0.82650	GTC		0.468	ARL13A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000057504.2	XM_373358		14	42	0	0	0	1	0	14	42				
TM4SF18	116441	broad.mit.edu	37	3	149042734	149042734	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:149042734G>C	ENST00000296059.2	-	4	608	c.343C>G	c.(343-345)Ctt>Gtt	p.L115V	RP11-206M11.7_ENST00000489011.1_RNA|TM4SF18_ENST00000470080.1_Missense_Mutation_p.L115V	NM_138786.3	NP_620141.1	Q96CE8	T4S18_HUMAN	transmembrane 4 L six family member 18	115						integral component of membrane (GO:0016021)				lung(1)|ovary(1)|prostate(1)	3			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			CCTTGGACAAGACCCAAGGCA	0.473																																						ENST00000296059.2																			0				lung(1)|ovary(1)|prostate(1)	3						c.(343-345)Ctt>Gtt		transmembrane 4 L six family member 18							89.0	84.0	86.0					3																	149042734		2203	4300	6503	SO:0001583	missense	116441					integral to membrane		g.chr3:149042734G>C	BC014339	CCDS3142.1	3q25.1	2005-08-09			ENSG00000163762	ENSG00000163762			25181	protein-coding gene	gene with protein product						10975581	Standard	NM_001184723		Approved	L6D	uc021xfl.1	Q96CE8	OTTHUMG00000159582	ENST00000296059.2:c.343C>G	3.37:g.149042734G>C	ENSP00000296059:p.Leu115Val					TM4SF18_ENST00000470080.1_Missense_Mutation_p.L115V|RP11-206M11.7_ENST00000489011.1_RNA	p.L115V	NM_138786.3	NP_620141.1	Q96CE8	T4S18_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		4	608	-			115					B2R8K0|D3DNH5	Missense_Mutation	SNP	ENST00000296059.2	37	c.343C>G	CCDS3142.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.638959	0.67130	.	.	ENSG00000163762	ENST00000296059;ENST00000470080;ENST00000474754	T;T;T	0.49139	0.79;0.79;0.79	5.8	4.82	0.62117	.	0.000000	0.64402	D	0.000001	T	0.64494	0.2603	M	0.82132	2.575	0.34541	D	0.710318	D	0.76494	0.999	D	0.87578	0.998	T	0.74691	-0.3580	10	0.87932	D	0	-12.6361	4.846	0.13514	0.2186:0.0:0.7814:0.0	.	115	Q96CE8	T4S18_HUMAN	V	115	ENSP00000296059:L115V;ENSP00000419278:L115V;ENSP00000418372:L115V	ENSP00000296059:L115V	L	-	1	0	TM4SF18	150525424	0.994000	0.37717	0.754000	0.31244	0.746000	0.42486	3.011000	0.49567	2.745000	0.94114	0.655000	0.94253	CTT		0.473	TM4SF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356326.1	NM_138786		15	44	0	0	0	1	0	15	44				
EGFL8	80864	broad.mit.edu	37	6	32133980	32133980	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:32133980G>A	ENST00000395512.1	+	2	143	c.38G>A	c.(37-39)gGa>gAa	p.G13E	AGPAT1_ENST00000490711.1_5'Flank|PPT2-EGFL8_ENST00000453656.2_3'UTR|PPT2_ENST00000437001.2_3'UTR|EGFL8_ENST00000333845.6_Missense_Mutation_p.G13E|PPT2-EGFL8_ENST00000422437.1_3'UTR			Q99944	EGFL8_HUMAN	EGF-like-domain, multiple 8	13						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						CTCTTAGGCGGATTCTCCTTC	0.597																																						ENST00000395512.1																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						c.(37-39)gGa>gAa		EGF-like-domain, multiple 8							82.0	68.0	73.0					6																	32133980		2203	4300	6503	SO:0001583	missense	80864					extracellular region|integral to membrane	calcium ion binding	g.chr6:32133980G>A	U89336	CCDS4743.1	6p21	2010-06-25	2003-05-21	2003-05-23	ENSG00000241404	ENSG00000241404			13944	protein-coding gene	gene with protein product		609897	"""chromosome 6 open reading frame 8"""	C6orf8			Standard	NM_030652		Approved	NG3		Q99944	OTTHUMG00000031222	ENST00000395512.1:c.38G>A	6.37:g.32133980G>A	ENSP00000378888:p.Gly13Glu					PPT2_ENST00000437001.2_3'UTR|EGFL8_ENST00000333845.6_Missense_Mutation_p.G13E|PPT2-EGFL8_ENST00000453656.2_3'UTR|PPT2-EGFL8_ENST00000422437.1_3'UTR	p.G13E			Q99944	EGFL8_HUMAN			2	143	+			13					B0S884|G5E9Q0|Q5JP23|Q5SSX3|Q8IV30	Missense_Mutation	SNP	ENST00000395512.1	37	c.38G>A	CCDS4743.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.573593	0.45902	.	.	ENSG00000241404	ENST00000333845;ENST00000395512;ENST00000432129	D;D;T	0.92495	-3.05;-3.05;1.51	5.16	4.29	0.51040	.	.	.	.	.	T	0.81673	0.4872	L	0.32530	0.975	0.09310	N	1	P	0.43287	0.802	B	0.42245	0.381	T	0.75377	-0.3339	9	0.66056	D	0.02	-3.824	9.4141	0.38510	0.0961:0.0:0.9039:0.0	.	13	Q99944	EGFL8_HUMAN	E	13	ENSP00000333380:G13E;ENSP00000378888:G13E;ENSP00000401694:G13E	ENSP00000333380:G13E	G	+	2	0	EGFL8	32241958	0.327000	0.24678	0.064000	0.19789	0.349000	0.29174	1.948000	0.40303	1.404000	0.46819	0.561000	0.74099	GGA		0.597	EGFL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076463.3	NM_030652		23	43	0	0	0	1	0	23	43				
TTN	7273	broad.mit.edu	37	2	179485937	179485937	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:179485937C>T	ENST00000591111.1	-	196	40809	c.40585G>A	c.(40585-40587)Gat>Aat	p.D13529N	TTN_ENST00000359218.5_Missense_Mutation_p.D6230N|TTN_ENST00000460472.2_Missense_Mutation_p.D6105N|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D6297N|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D15170N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D12602N|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13529	Ig-like 91.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTTACCATCAGCAATAACG	0.443																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(45508-45510)Gat>Aat		titin							141.0	131.0	134.0					2																	179485937		1915	4116	6031	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179485937C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.40585G>A	2.37:g.179485937C>T	ENSP00000465570:p.Asp13529Asn					TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D6230N|TTN_ENST00000460472.2_Missense_Mutation_p.D6105N|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D12602N|TTN_ENST00000591111.1_Missense_Mutation_p.D13529N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D6297N	p.D15170N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		246	45732	-			13529			Fibronectin type-III 10.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.45508G>A		.	.	.	.	.	.	.	.	.	.	C	18.10	3.549086	0.65311	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	5.88	5.88	0.94601	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79947	0.4534	M	0.67569	2.06	0.58432	D	0.999999	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	P;P;P;P	0.60236	0.871;0.871;0.871;0.871	T	0.80768	-0.1235	9	0.87932	D	0	.	20.2441	0.98394	0.0:1.0:0.0:0.0	.	6105;6230;6297;13529	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	12602;6105;6297;6230;6105	ENSP00000343764:D12602N;ENSP00000434586:D6105N;ENSP00000340554:D6297N;ENSP00000352154:D6230N	ENSP00000340554:D6297N	D	-	1	0	TTN	179194182	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.770000	0.85390	2.774000	0.95407	0.655000	0.94253	GAT		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		17	33	0	0	0	1	0	17	33				
EMILIN2	84034	broad.mit.edu	37	18	2892385	2892385	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr18:2892385G>C	ENST00000254528.3	+	4	2419	c.2260G>C	c.(2260-2262)Gac>Cac	p.D754H		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	754					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		GCATTCCAGAGACATTTCTGG	0.488																																						ENST00000254528.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48						c.(2260-2262)Gac>Cac		elastin microfibril interfacer 2							64.0	59.0	61.0					18																	2892385		2203	4300	6503	SO:0001583	missense	84034				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	g.chr18:2892385G>C	AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"""EMI domain containing"""	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.2260G>C	18.37:g.2892385G>C	ENSP00000254528:p.Asp754His						p.D754H	NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN		READ - Rectum adenocarcinoma(2;0.1)	4	2419	+			754					B2RMY3|Q8NBH3|Q96JQ4	Missense_Mutation	SNP	ENST00000254528.3	37	c.2260G>C	CCDS11828.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.338336	0.81911	.	.	ENSG00000132205	ENST00000254528	T	0.33865	1.39	5.47	4.58	0.56647	.	0.363740	0.28521	N	0.015057	T	0.55497	0.1924	M	0.65498	2.005	0.58432	D	0.999994	D	0.61080	0.989	P	0.60345	0.873	T	0.61163	-0.7118	10	0.72032	D	0.01	-26.8057	16.2054	0.82126	0.0:0.1334:0.8666:0.0	.	754	Q9BXX0	EMIL2_HUMAN	H	754	ENSP00000254528:D754H	ENSP00000254528:D754H	D	+	1	0	EMILIN2	2882385	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.637000	0.83313	1.278000	0.44430	0.557000	0.71058	GAC		0.488	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	NM_032048		26	46	0	0	0	1	0	26	46				
UBXN10	127733	broad.mit.edu	37	1	20517146	20517146	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:20517146C>A	ENST00000375099.3	+	2	176	c.92C>A	c.(91-93)tCa>tAa	p.S31*		NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	31										endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						CAGCCAAACTCACTAAATATG	0.522																																						ENST00000375099.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						c.(91-93)tCa>tAa		UBX domain protein 10							95.0	82.0	87.0					1																	20517146		2203	4300	6503	SO:0001587	stop_gained	127733							g.chr1:20517146C>A	AK058158	CCDS205.1	1p36.13	2008-07-25	2008-07-25	2008-07-25	ENSG00000162543	ENSG00000162543		"""UBX domain containing"""	26354	protein-coding gene	gene with protein product			"""UBX domain containing 3"""	UBXD3		12477932	Standard	NM_152376		Approved	FLJ25429	uc001bdb.3	Q96LJ8	OTTHUMG00000002708	ENST00000375099.3:c.92C>A	1.37:g.20517146C>A	ENSP00000364240:p.Ser31*						p.S31*	NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN			2	176	+			31					Q5R386	Nonsense_Mutation	SNP	ENST00000375099.3	37	c.92C>A	CCDS205.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.946069	0.53079	.	.	ENSG00000162543	ENST00000375099	.	.	.	5.13	4.22	0.49857	.	0.751423	0.11337	N	0.574487	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.4606	10.6213	0.45481	0.0:0.9093:0.0:0.0907	.	.	.	.	X	31	.	ENSP00000364240:S31X	S	+	2	0	UBXN10	20389733	0.063000	0.20901	0.001000	0.08648	0.218000	0.24690	3.755000	0.55197	1.164000	0.42652	0.655000	0.94253	TCA		0.522	UBXN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007693.1	NM_152376		37	87	1	0	9.04072e-19	1	9.75321e-19	37	87				
HLA-B	3106	broad.mit.edu	37	6	31324862	31324862	+	Splice_Site	SNP	C	C	G	rs45624240		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:31324862C>G	ENST00000412585.2	-	1	102		c.e1+1			NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B						antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						CCCGCACTCACCGGCCCAGGT	0.731									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																													ENST00000412585.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						c.e1+1		major histocompatibility complex, class I, B							8.0	9.0	9.0					6																	31324862		2051	4040	6091	SO:0001630	splice_region_variant	3106	Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	;Lichen Sclerosis, Familial				g.chr6:31324862C>G	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4932	protein-coding gene	gene with protein product		142830	"""ankylosing spondylitis"""	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.73+1G>C	6.37:g.31324862C>G								NM_005514.6	NP_005505.2					1	102	-								Q29764	Splice_Site	SNP	ENST00000412585.2	37		CCDS34394.1	.	.	.	.	.	.	.	.	.	.	.	12.20	1.866693	0.32977	.	.	ENSG00000234745	ENST00000412585	.	.	.	3.2	3.2	0.36748	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.0816	0.42393	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HLA-B	31432841	0.000000	0.05858	0.985000	0.45067	0.024000	0.10985	0.205000	0.17356	1.808000	0.52836	0.448000	0.29417	.		0.731	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514	Intron	24	10	0	0	0	1	0	24	10				
ZNF235	9310	broad.mit.edu	37	19	44791652	44791652	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:44791652G>A	ENST00000291182.4	-	5	2038	c.1936C>T	c.(1936-1938)Cag>Tag	p.Q646*	ZNF235_ENST00000589799.1_Intron|ZNF235_ENST00000589248.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	646					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				TGAATTATCTGATGGACTTGA	0.468																																						ENST00000291182.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1936-1938)Cag>Tag		zinc finger protein 235							113.0	107.0	109.0					19																	44791652		2203	4300	6503	SO:0001587	stop_gained	9310				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44791652G>A	X78929	CCDS33048.1	19q13.2	2013-01-08	2002-11-04	2002-11-08	ENSG00000159917	ENSG00000159917		"""Zinc fingers, C2H2-type"", ""-"""	12866	protein-coding gene	gene with protein product		604749	"""zinc finger protein homologous to Zfp93 in mouse"""	ZNF270, ZFP93		7865130, 9570955	Standard	NM_004234		Approved	HZF6, ANF270	uc002oza.4	Q14590		ENST00000291182.4:c.1936C>T	19.37:g.44791652G>A	ENSP00000291182:p.Gln646*					ZNF235_ENST00000589799.1_Intron|ZNF235_ENST00000589248.1_Intron	p.Q646*	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN			5	2038	-		Prostate(69;0.0352)|all_neural(266;0.116)	646					B4DTQ7|O14898|O14899|Q17RR8	Nonsense_Mutation	SNP	ENST00000291182.4	37	c.1936C>T	CCDS33048.1	.	.	.	.	.	.	.	.	.	.	G	36	5.884280	0.97062	.	.	ENSG00000159917	ENST00000391957;ENST00000291182;ENST00000359844	.	.	.	4.88	3.77	0.43336	.	0.000000	0.39020	N	0.001484	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-26.9055	13.9938	0.64382	0.0:0.0:0.8486:0.1514	.	.	.	.	X	646;646;538	.	ENSP00000291182:Q646X	Q	-	1	0	ZNF235	49483492	0.005000	0.15991	0.995000	0.50966	0.962000	0.63368	1.220000	0.32491	2.426000	0.82243	0.313000	0.20887	CAG		0.468	ZNF235-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460732.1			44	112	0	0	0	1	0	44	112				
PHYH	5264	broad.mit.edu	37	10	13333884	13333884	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr10:13333884C>G	ENST00000263038.4	-	5	501	c.443G>C	c.(442-444)gGa>gCa	p.G148A	PHYH_ENST00000396920.3_Missense_Mutation_p.G129A|PHYH_ENST00000396913.2_Missense_Mutation_p.G48A	NM_006214.3	NP_006205.1	O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	148					cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|isoprenoid metabolic process (GO:0006720)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|electron carrier activity (GO:0009055)|L-ascorbic acid binding (GO:0031418)|metal ion binding (GO:0046872)|phytanoyl-CoA dioxygenase activity (GO:0048244)			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	AATATTAGGTCCAGTGAAGCA	0.333																																						ENST00000396920.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25						c.(385-387)gGa>gCa		phytanoyl-CoA 2-hydroxylase	Antihemophilic Factor(DB00025)|Vitamin C(DB00126)						103.0	98.0	100.0					10																	13333884		2203	4300	6503	SO:0001583	missense	5264				fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding	g.chr10:13333884C>G		CCDS7097.1, CCDS41489.1	10p13	2010-04-27	2006-01-09		ENSG00000107537	ENSG00000107537	1.14.11.18		8940	protein-coding gene	gene with protein product	"""Refsum disease"", ""phytanoyl-CoA dioxygenase"""	602026	"""phytanoyl-CoA hydroxylase (Refsum disease)"", ""phytanoyl-CoA hydroxylase"""			9326939	Standard	XM_005252469		Approved	PAHX, RD, PHYH1	uc001imf.3	O14832	OTTHUMG00000017693	ENST00000263038.4:c.443G>C	10.37:g.13333884C>G	ENSP00000263038:p.Gly148Ala					PHYH_ENST00000263038.4_Missense_Mutation_p.G148A|PHYH_ENST00000396913.2_Missense_Mutation_p.G48A	p.G129A			O14832	PAHX_HUMAN			5	790	-		Ovarian(717;0.0448)	148					A8MTS8|B1ALH5	Missense_Mutation	SNP	ENST00000263038.4	37	c.386G>C	CCDS7097.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.947940	0.92593	.	.	ENSG00000107537	ENST00000396913;ENST00000263038;ENST00000396920;ENST00000453759;ENST00000479604	D;D;D;D;D	0.94232	-3.38;-3.38;-3.38;-3.38;-3.38	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.97810	0.9281	H	0.94503	3.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98534	1.0629	10	0.72032	D	0.01	-24.606	19.4129	0.94683	0.0:1.0:0.0:0.0	.	129;148	B1ALH6;O14832	.;PAHX_HUMAN	A	48;148;129;48;148	ENSP00000380121:G48A;ENSP00000263038:G148A;ENSP00000380126:G129A;ENSP00000412525:G48A;ENSP00000420117:G148A	ENSP00000263038:G148A	G	-	2	0	PHYH	13373890	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.636000	0.83301	2.652000	0.90054	0.655000	0.94253	GGA		0.333	PHYH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046845.2			16	25	0	0	0	1	0	16	25				
TNXB	7148	broad.mit.edu	37	6	32046848	32046848	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:32046848C>T	ENST00000375244.3	-	11	4538	c.4337G>A	c.(4336-4338)gGg>gAg	p.G1446E	RNA5SP206_ENST00000516703.1_RNA|TNXB_ENST00000375247.2_Missense_Mutation_p.G1446E			P22105	TENX_HUMAN	tenascin XB	1533					actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CACGCGCTGCCCCTCGTGGAG	0.687																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(4336-4338)gGg>gAg		tenascin XB							46.0	53.0	50.0					6																	32046848		1294	2561	3855	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32046848C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.4337G>A	6.37:g.32046848C>T	ENSP00000364393:p.Gly1446Glu					TNXB_ENST00000375247.2_Missense_Mutation_p.G1446E	p.G1446E			P22105	TENX_HUMAN			11	4538	-			1533					P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.4337G>A		.	.	.	.	.	.	.	.	.	.	C	13.90	2.374497	0.42105	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.57107	0.42;0.42	5.52	3.67	0.42095	.	0.000000	0.41823	D	0.000817	T	0.33089	0.0851	M	0.87328	2.875	0.09310	N	1	P	0.39116	0.66	B	0.40256	0.324	T	0.47222	-0.9134	10	0.06891	T	0.86	.	8.4046	0.32608	0.0:0.7575:0.1583:0.0842	.	1446	P22105-3	.	E	1446	ENSP00000364393:G1446E;ENSP00000364396:G1446E	ENSP00000364393:G1446E	G	-	2	0	TNXB	32154826	0.001000	0.12720	0.082000	0.20525	0.125000	0.20455	0.951000	0.29135	1.436000	0.47453	0.591000	0.81541	GGG		0.687	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		55	24	0	0	0	1	0	55	24				
LINGO2	158038	broad.mit.edu	37	9	27949403	27949403	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr9:27949403C>T	ENST00000379992.2	-	6	1716	c.1267G>A	c.(1267-1269)Gat>Aat	p.D423N	LINGO2_ENST00000308675.3_Missense_Mutation_p.D423N	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	423	Ig-like C2-type.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TGCCCTTCATCTACTAGCAGA	0.483																																						ENST00000379992.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1267-1269)Gat>Aat		leucine rich repeat and Ig domain containing 2							97.0	88.0	91.0					9																	27949403		2203	4300	6503	SO:0001583	missense	158038					integral to membrane		g.chr9:27949403C>T	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.1267G>A	9.37:g.27949403C>T	ENSP00000369328:p.Asp423Asn					LINGO2_ENST00000308675.3_Missense_Mutation_p.D423N	p.D423N	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)	6	1716	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	423			Ig-like C2-type.		A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	ENST00000379992.2	37	c.1267G>A	CCDS6524.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.603703	0.46423	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	T;T	0.66460	-0.21;-0.21	6.16	6.16	0.99307	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.097850	0.64402	D	0.000002	T	0.43787	0.1263	N	0.02539	-0.55	0.58432	D	0.999995	B	0.24651	0.108	B	0.30251	0.113	T	0.44997	-0.9291	9	.	.	.	.	16.2434	0.82429	0.0:0.8682:0.1318:0.0	.	423	Q7L985	LIGO2_HUMAN	N	423	ENSP00000369328:D423N;ENSP00000310126:D423N	.	D	-	1	0	LINGO2	27939403	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.963000	0.56773	2.937000	0.99478	0.650000	0.86243	GAT		0.483	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570		26	71	0	0	0	1	0	26	71				
LRRCC1	85444	broad.mit.edu	37	8	86057663	86057663	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr8:86057663G>C	ENST00000360375.3	+	19	3165	c.3016G>C	c.(3016-3018)Gaa>Caa	p.E1006Q	LRRCC1_ENST00000414626.2_Missense_Mutation_p.E986Q	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	1006					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						ACTTTTGGAAGAAACATGCAA	0.274																																						ENST00000414626.2																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						c.(2956-2958)Gaa>Caa		leucine rich repeat and coiled-coil centrosomal protein 1							50.0	47.0	48.0					8																	86057663		1797	4061	5858	SO:0001583	missense	85444				cell division|mitosis	centriole|nucleus		g.chr8:86057663G>C	BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.3016G>C	8.37:g.86057663G>C	ENSP00000353538:p.Glu1006Gln					LRRCC1_ENST00000360375.3_Missense_Mutation_p.E1006Q	p.E986Q			Q9C099	LRCC1_HUMAN			18	3845	+			1006					B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	ENST00000360375.3	37	c.2956G>C	CCDS43750.1	.	.	.	.	.	.	.	.	.	.	G	19.82	3.898637	0.72639	.	.	ENSG00000133739	ENST00000360375;ENST00000414626	T;T	0.59364	0.27;0.29	4.97	4.97	0.65823	.	0.000000	0.36066	N	0.002817	T	0.74718	0.3753	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.997	T	0.73968	-0.3815	10	0.41790	T	0.15	-23.0843	18.4061	0.90536	0.0:0.0:1.0:0.0	.	986;913;1006	Q9C099-2;E9PE41;Q9C099	.;.;LRCC1_HUMAN	Q	1006;986	ENSP00000353538:E1006Q;ENSP00000394695:E986Q	ENSP00000353538:E1006Q	E	+	1	0	LRRCC1	86244915	1.000000	0.71417	1.000000	0.80357	0.723000	0.41478	7.893000	0.87330	2.567000	0.86603	0.491000	0.48974	GAA		0.274	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402		5	17	0	0	0	1	0	5	17				
NOTCH1	4851	broad.mit.edu	37	9	139412344	139412344	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr9:139412344C>A	ENST00000277541.6	-	8	1376	c.1301G>T	c.(1300-1302)gGc>gTc	p.G434V	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	434	EGF-like 11; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CTCGAAGGAGCCCAGCGTGTT	0.667			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(1300-1302)gGc>gTc		notch 1							45.0	50.0	48.0					9																	139412344		2193	4285	6478	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139412344C>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1301G>T	9.37:g.139412344C>A	ENSP00000277541:p.Gly434Val	HNSCC(8;0.001)					p.G434V	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	8	1376	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	434			EGF-like 11; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.1301G>T	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.824215	0.90955	.	.	ENSG00000148400	ENST00000277541	D	0.99557	-6.16	4.57	4.57	0.56435	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99729	0.9894	H	0.94964	3.605	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97128	0.9816	10	0.87932	D	0	.	16.3317	0.83023	0.0:1.0:0.0:0.0	.	434	P46531	NOTC1_HUMAN	V	434	ENSP00000277541:G434V	ENSP00000277541:G434V	G	-	2	0	NOTCH1	138532165	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.584000	0.82572	2.088000	0.63022	0.462000	0.41574	GGC		0.667	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		22	46	1	0	1.10513e-12	1	1.17171e-12	22	46				
ANKH	56172	broad.mit.edu	37	5	14713736	14713736	+	Silent	SNP	C	C	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:14713736C>A	ENST00000284268.6	-	10	1512	c.1182G>T	c.(1180-1182)ctG>ctT	p.L394L	ANKH_ENST00000535119.1_Silent_p.L196L	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	394					locomotory behavior (GO:0007626)|regulation of bone mineralization (GO:0030500)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	inorganic diphosphate transmembrane transporter activity (GO:0030504)|inorganic phosphate transmembrane transporter activity (GO:0005315)|phosphate ion transmembrane transporter activity (GO:0015114)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						AGGTTTTCTTCAGTGTCATCA	0.607																																						ENST00000284268.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(1180-1182)ctG>ctT		ANKH inorganic pyrophosphate transport regulator							153.0	116.0	128.0					5																	14713736		2203	4300	6503	SO:0001819	synonymous_variant	56172				locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity	g.chr5:14713736C>A	AF274753	CCDS3885.1	5p15.2	2013-06-19	2013-06-19		ENSG00000154122	ENSG00000154122			15492	protein-coding gene	gene with protein product		605145	"""ankylosis, progressive (mouse) homolog"", ""craniometaphyseal dysplasia, Jackson type (dominant)"", ""ankylosis, progressive homolog (mouse)"""	CCAL2, CMDJ		10894769, 12297989, 11326338	Standard	NM_054027		Approved	HANK, ANK, CPPDD	uc003jfm.4	Q9HCJ1	OTTHUMG00000090539	ENST00000284268.6:c.1182G>T	5.37:g.14713736C>A						ANKH_ENST00000535119.1_Silent_p.L196L	p.L394L	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN			10	1512	-			394					B2RCA7|B3KMG4|D3DTD4|Q9NQW2	Silent	SNP	ENST00000284268.6	37	c.1182G>T	CCDS3885.1																																																																																				0.607	ANKH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207063.1	NM_054027		11	55	1	0	0.000673444	1	0.000680068	11	55				
OR2T1	26696	broad.mit.edu	37	1	248570303	248570303	+	Silent	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:248570303C>T	ENST00000366474.1	+	1	1008	c.1008C>T	c.(1006-1008)aaC>aaT	p.N336N		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	336						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCATGCTGAACCCCCTCATCT	0.522																																						ENST00000366474.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39						c.(1006-1008)aaC>aaT		olfactory receptor, family 2, subfamily T, member 1							177.0	179.0	179.0					1																	248570303		2203	4300	6503	SO:0001819	synonymous_variant	26696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248570303C>T	U86215	CCDS31115.1	1q44	2012-08-09			ENSG00000175143	ENSG00000175143		"""GPCR / Class A : Olfactory receptors"""	8277	protein-coding gene	gene with protein product						9500546	Standard	NM_030904		Approved	OR1-25	uc010pzm.2	O43869	OTTHUMG00000040450	ENST00000366474.1:c.1008C>T	1.37:g.248570303C>T							p.N336N	NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	1008	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		336					Q6IEZ9	Silent	SNP	ENST00000366474.1	37	c.1008C>T	CCDS31115.1																																																																																				0.522	OR2T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097346.2			61	140	0	0	0	1	0	61	140				
ARHGAP26	23092	broad.mit.edu	37	5	142513625	142513625	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:142513625G>A	ENST00000274498.4	+	19	2170	c.1792G>A	c.(1792-1794)Gag>Aag	p.E598K	ARHGAP26_ENST00000378004.3_Missense_Mutation_p.E598K	NM_015071.4	NP_055886.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	598	Ser-rich.				actin cytoskeleton organization (GO:0030036)|filopodium assembly (GO:0046847)|nervous system development (GO:0007399)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTCCTGCAGCGAGAGGCCCCT	0.562																																						ENST00000378004.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25						c.(1792-1794)Gag>Aag		Rho GTPase activating protein 26							130.0	113.0	119.0					5																	142513625		2203	4300	6503	SO:0001583	missense	23092				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chr5:142513625G>A	AB014521	CCDS4277.1, CCDS47297.1	5q31	2011-06-29			ENSG00000145819	ENSG00000145819		"""Rho GTPase activating proteins"""	17073	protein-coding gene	gene with protein product	"""GTPase regulator associated with the focal adhesion kinase pp125"""	605370				9858476, 8649427	Standard	NM_001135608		Approved	GRAF, KIAA0621, OPHN1L, OPHN1L1	uc011dbj.2	Q9UNA1	OTTHUMG00000059705	ENST00000274498.4:c.1792G>A	5.37:g.142513625G>A	ENSP00000274498:p.Glu598Lys					ARHGAP26_ENST00000274498.4_Missense_Mutation_p.E598K	p.E598K	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		19	2147	+		all_hematologic(541;0.0416)	598			Ser-rich.		O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00	Missense_Mutation	SNP	ENST00000274498.4	37	c.1792G>A	CCDS4277.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.598932	0.66332	.	.	ENSG00000145819	ENST00000274498;ENST00000378004;ENST00000418668	T;T	0.07114	3.22;3.28	5.95	5.07	0.68467	.	0.048373	0.85682	N	0.000000	T	0.07007	0.0178	N	0.17082	0.46	0.45554	D	0.998509	P;P;D	0.59767	0.611;0.703;0.986	B;B;P	0.48166	0.092;0.103;0.569	T	0.13229	-1.0517	10	0.02654	T	1	.	14.5363	0.67963	0.0723:0.0:0.9277:0.0	.	598;171;598	Q9UNA1;B3KT96;Q9UNA1-2	RHG26_HUMAN;.;.	K	598;598;171	ENSP00000274498:E598K;ENSP00000367243:E598K	ENSP00000274498:E598K	E	+	1	0	ARHGAP26	142493818	1.000000	0.71417	0.993000	0.49108	0.981000	0.71138	5.321000	0.65846	1.496000	0.48567	0.655000	0.94253	GAG		0.562	ARHGAP26-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132744.3	NM_015071		53	111	0	0	0	1	0	53	111				
PTPRS	5802	broad.mit.edu	37	19	5222967	5222967	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:5222967C>T	ENST00000587303.1	-	17	2935	c.2836G>A	c.(2836-2838)Gtc>Atc	p.V946I	PTPRS_ENST00000357368.4_Missense_Mutation_p.V946I|PTPRS_ENST00000348075.2_Missense_Mutation_p.V924I|PTPRS_ENST00000353284.2_Intron|PTPRS_ENST00000588552.1_Intron|PTPRS_ENST00000262963.6_Missense_Mutation_p.V942I|PTPRS_ENST00000588012.1_Missense_Mutation_p.V924I|PTPRS_ENST00000372412.4_Missense_Mutation_p.V947I|PTPRS_ENST00000592099.1_Intron			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	946	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	CGGAGAAGGACGGTCCCGGCC	0.746																																						ENST00000372412.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61						c.(2839-2841)Gtc>Atc		protein tyrosine phosphatase, receptor type, S							3.0	4.0	4.0					19																	5222967		1722	3535	5257	SO:0001583	missense	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5222967C>T	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.2836G>A	19.37:g.5222967C>T	ENSP00000467537:p.Val946Ile					PTPRS_ENST00000588012.1_Missense_Mutation_p.V924I|PTPRS_ENST00000357368.4_Missense_Mutation_p.V946I|PTPRS_ENST00000353284.2_Intron|PTPRS_ENST00000348075.2_Missense_Mutation_p.V924I|PTPRS_ENST00000592099.1_Intron|PTPRS_ENST00000588552.1_Intron|PTPRS_ENST00000262963.6_Missense_Mutation_p.V942I|PTPRS_ENST00000587303.1_Missense_Mutation_p.V946I	p.V947I			Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	18	3072	-			946			Fibronectin type-III 7.		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	c.2839G>A	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	C	10.04	1.242707	0.22796	.	.	ENSG00000105426	ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	4.01	4.01	0.46588	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.088111	0.46145	U	0.000302	T	0.29684	0.0741	N	0.11427	0.14	0.80722	D	1	B;B	0.18166	0.025;0.026	B;B	0.14578	0.006;0.011	T	0.10268	-1.0637	10	0.20046	T	0.44	.	10.0596	0.42266	0.0:0.9065:0.0:0.0935	.	924;946	Q13332-6;Q13332	.;PTPRS_HUMAN	I	947;946;946;937;942;924	ENSP00000361489:V947I;ENSP00000349932:V946I;ENSP00000262963:V942I;ENSP00000269907:V924I	ENSP00000262963:V942I	V	-	1	0	PTPRS	5173967	0.989000	0.36119	0.996000	0.52242	0.978000	0.69477	2.812000	0.47994	2.081000	0.62600	0.557000	0.71058	GTC		0.746	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			3	4	0	0	0	1	0	3	4				
SYT17	51760	broad.mit.edu	37	16	19278268	19278268	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr16:19278268C>A	ENST00000355377.2	+	8	1693	c.1295C>A	c.(1294-1296)tCa>tAa	p.S432*	SYT17_ENST00000562711.2_Nonsense_Mutation_p.S428*|SYT17_ENST00000568433.1_Nonsense_Mutation_p.S126*|SYT17_ENST00000562034.1_Nonsense_Mutation_p.S371*	NM_016524.2	NP_057608.2	Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	432					exocytosis (GO:0006887)	membrane (GO:0016020)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						CAGTACTCTTCAGGCCCCTCT	0.602																																						ENST00000562034.1																			0				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						c.(1111-1113)tCa>tAa		synaptotagmin XVII							83.0	70.0	74.0					16																	19278268		2197	4300	6497	SO:0001587	stop_gained	51760					membrane|synaptic vesicle	transporter activity	g.chr16:19278268C>A		CCDS10575.1	16p12.3	2013-01-21			ENSG00000103528	ENSG00000103528		"""Synaptotagmins"""	24119	protein-coding gene	gene with protein product	"""B/K protein"""					10493829	Standard	NM_016524		Approved		uc002dfw.3	Q9BSW7	OTTHUMG00000131461	ENST00000355377.2:c.1295C>A	16.37:g.19278268C>A	ENSP00000347538:p.Ser432*					SYT17_ENST00000568433.1_Nonsense_Mutation_p.S126*|SYT17_ENST00000562711.2_Nonsense_Mutation_p.S428*|SYT17_ENST00000355377.2_Nonsense_Mutation_p.S432*	p.S371*			Q9BSW7	SYT17_HUMAN			6	4910	+			432			C2 2.		O43330|Q9NZ18	Nonsense_Mutation	SNP	ENST00000355377.2	37	c.1112C>A	CCDS10575.1	.	.	.	.	.	.	.	.	.	.	C	58	32.225786	0.99980	.	.	ENSG00000103528	ENST00000355377	.	.	.	5.12	5.12	0.69794	.	0.205084	0.30611	N	0.009247	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.5662	0.91118	0.0:1.0:0.0:0.0	.	.	.	.	X	432	.	ENSP00000347538:S432X	S	+	2	0	SYT17	19185769	0.821000	0.29204	0.724000	0.30704	0.926000	0.56050	3.630000	0.54273	2.351000	0.79841	0.655000	0.94253	TCA		0.602	SYT17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254286.2	NM_016524		16	36	1	0	1.15088e-07	1	1.18751e-07	16	36				
KDR	3791	broad.mit.edu	37	4	55953828	55953828	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr4:55953828T>C	ENST00000263923.4	-	27	3903	c.3608A>G	c.(3607-3609)gAg>gGg	p.E1203G	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1203					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTCCTCCTCCTCCATACAGGA	0.488			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												ENST00000263923.4				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			"""NSCLC, angiosarcoma"""		0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135						c.(3607-3609)gAg>gGg		kinase insert domain receptor (a type III receptor tyrosine kinase)	Sorafenib(DB00398)|Sunitinib(DB01268)						145.0	127.0	133.0					4																	55953828		2203	4300	6503	SO:0001583	missense	3791				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55953828T>C	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.3608A>G	4.37:g.55953828T>C	ENSP00000263923:p.Glu1203Gly	TSP Lung(20;0.16)				RP11-530I17.1_ENST00000511222.1_RNA	p.E1203G	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		27	3903	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		1203					A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.3608A>G	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.368554	0.82463	.	.	ENSG00000128052	ENST00000263923	T	0.78003	-1.14	5.61	5.61	0.85477	.	0.269079	0.40385	N	0.001114	D	0.83294	0.5223	M	0.63428	1.95	0.46396	D	0.999024	D	0.58620	0.983	P	0.55713	0.782	D	0.83986	0.0335	10	0.48119	T	0.1	.	15.7907	0.78357	0.0:0.0:0.0:1.0	.	1203	P35968	VGFR2_HUMAN	G	1203	ENSP00000263923:E1203G	ENSP00000263923:E1203G	E	-	2	0	KDR	55648585	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.666000	0.46799	2.148000	0.66965	0.459000	0.35465	GAG		0.488	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			12	47	0	0	0	1	0	12	47				
CHST8	64377	broad.mit.edu	37	19	34262945	34262945	+	Silent	SNP	G	G	A	rs373583449		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:34262945G>A	ENST00000262622.4	+	4	1010	c.252G>A	c.(250-252)ccG>ccA	p.P84P	CHST8_ENST00000438847.3_Silent_p.P84P|CHST8_ENST00000434302.1_Silent_p.P84P	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	84					carbohydrate biosynthetic process (GO:0016051)|central nervous system development (GO:0007417)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					GTGGGGCCCCGAGGGGCCGCA	0.667																																						ENST00000262622.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27						c.(250-252)ccG>ccA		carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8							20.0	28.0	25.0					19																	34262945		2201	4295	6496	SO:0001819	synonymous_variant	64377				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr19:34262945G>A	AB047801	CCDS12433.1	19q13.1	2008-02-05				ENSG00000124302		"""Sulfotransferases, membrane-bound"""	15993	protein-coding gene	gene with protein product		610190				10988300, 11001942	Standard	NM_001127895		Approved	GALNAC-4-ST1	uc002nut.4	Q9H2A9		ENST00000262622.4:c.252G>A	19.37:g.34262945G>A						CHST8_ENST00000438847.2_Silent_p.P84P|CHST8_ENST00000434302.1_Silent_p.P84P	p.P84P	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN			4	1010	+	Esophageal squamous(110;0.162)		84					Q9H3N2	Silent	SNP	ENST00000262622.4	37	c.252G>A	CCDS12433.1																																																																																				0.667	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451453.1	NM_022467		22	62	0	0	0	1	0	22	62				
CYP27B1	1594	broad.mit.edu	37	12	58160730	58160730	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:58160730G>C	ENST00000228606.4	-	1	304	c.95C>G	c.(94-96)tCa>tGa	p.S32*	CYP27B1_ENST00000546496.1_5'Flank	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	32					bone mineralization (GO:0030282)|calcitriol biosynthetic process from calciol (GO:0036378)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|decidualization (GO:0046697)|G1 to G0 transition (GO:0070314)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of bone mineralization (GO:0030500)|response to estrogen (GO:0043627)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	calcidiol 1-monooxygenase activity (GO:0004498)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Alfacalcidol(DB01436)|Calcidiol(DB00146)|Corticotropin(DB01285)|Ergocalciferol(DB00153)	CCGGCGTGCTGAGTGGTACTC	0.642																																						ENST00000228606.4																			0				central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15						c.(94-96)tCa>tGa		cytochrome P450, family 27, subfamily B, polypeptide 1	Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)						86.0	100.0	95.0					12																	58160730		2203	4300	6503	SO:0001587	stop_gained	1594				bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding	g.chr12:58160730G>C	AB006987	CCDS8954.1	12q14.1	2013-11-13	2003-01-14		ENSG00000111012	ENSG00000111012		"""Cytochrome P450s"""	2606	protein-coding gene	gene with protein product	"""VDDR I"", ""1alpha(OH)ase"", ""25-Hydroxyvitamin D3 1alpha-hydroxylase"""	609506	"""cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1"""	VDD1, PDDR		9295274, 9344864	Standard	NM_000785		Approved	CYP1, P450c1	uc001spz.1	O15528	OTTHUMG00000170457	ENST00000228606.4:c.95C>G	12.37:g.58160730G>C	ENSP00000228606:p.Ser32*					RP11-571M6.13_ENST00000546609.1_RNA	p.S32*	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		1	304	-	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		32					B2RC61|Q548T3	Nonsense_Mutation	SNP	ENST00000228606.4	37	c.95C>G	CCDS8954.1	.	.	.	.	.	.	.	.	.	.	G	36	5.648699	0.96714	.	.	ENSG00000111012	ENST00000228606	.	.	.	5.26	4.33	0.51752	.	0.735097	0.11522	N	0.555603	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	7.6415	0.28296	0.0:0.1595:0.5684:0.2721	.	.	.	.	X	32	.	ENSP00000228606:S32X	S	-	2	0	CYP27B1	56446997	0.009000	0.17119	0.453000	0.27007	0.278000	0.26855	1.351000	0.34022	2.729000	0.93468	0.655000	0.94253	TCA		0.642	CYP27B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409248.1	NM_000785		42	185	0	0	0	1	0	42	185				
TAMM41	132001	broad.mit.edu	37	3	11871286	11871286	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:11871286C>G	ENST00000444133.2	-	4	606	c.464G>C	c.(463-465)aGa>aCa	p.R155T	TAMM41_ENST00000455809.1_Missense_Mutation_p.R155T|TAMM41_ENST00000273037.5_Missense_Mutation_p.R155T			Q96BW9	TAM41_HUMAN	TAM41, mitochondrial translocator assembly and maintenance protein, homolog (S. cerevisiae)	155					cardiolipin biosynthetic process (GO:0032049)|CDP-diacylglycerol biosynthetic process (GO:0016024)	extrinsic component of mitochondrial inner membrane (GO:0031314)	phosphatidate cytidylyltransferase activity (GO:0004605)										CTTCAGATTTCTATCGAGGGC	0.443																																						ENST00000444133.2																			0											c.(463-465)aGa>aCa		TAM41, mitochondrial translocator assembly and maintenance protein, homolog (S. cerevisiae)							112.0	114.0	113.0					3																	11871286		2203	4300	6503	SO:0001583	missense	132001				protein import into mitochondrial matrix	extrinsic to mitochondrial inner membrane		g.chr3:11871286C>G		CCDS2607.1, CCDS68345.1	3p25.2	2013-10-18	2011-08-09	2011-08-09	ENSG00000144559	ENSG00000144559			25187	protein-coding gene	gene with protein product		614948	"""chromosome 3 open reading frame 31"""	C3orf31		19237595	Standard	XM_005264873		Approved	MGC16471, DKFZp434E0519	uc003bwh.3	Q96BW9	OTTHUMG00000129741	ENST00000444133.2:c.464G>C	3.37:g.11871286C>G	ENSP00000388598:p.Arg155Thr					TAMM41_ENST00000455809.1_Missense_Mutation_p.R155T|TAMM41_ENST00000273037.5_Missense_Mutation_p.R155T	p.R155T			Q96BW9	MMP37_HUMAN			4	606	-			155					B4DIY7|C9J2U4	Missense_Mutation	SNP	ENST00000444133.2	37	c.464G>C		.	.	.	.	.	.	.	.	.	.	C	2.363	-0.346060	0.05208	.	.	ENSG00000144559	ENST00000455809;ENST00000273037;ENST00000444133	T;T;T	0.28454	1.61;1.61;1.61	5.41	1.73	0.24493	.	0.714842	0.14488	N	0.316558	T	0.14098	0.0341	N	0.17278	0.47	0.09310	N	1	B;B;B	0.18166	0.026;0.0;0.0	B;B;B	0.15484	0.013;0.003;0.004	T	0.31280	-0.9949	10	0.11182	T	0.66	-43.7863	4.8649	0.13604	0.0:0.3369:0.1615:0.5017	.	155;155;155	B4DIY7;C9J2U4;Q96BW9	.;.;TAM41_HUMAN	T	155	ENSP00000398596:R155T;ENSP00000273037:R155T;ENSP00000388598:R155T	ENSP00000273037:R155T	R	-	2	0	TAMM41	11846286	0.626000	0.27120	0.097000	0.21041	0.330000	0.28571	0.878000	0.28126	0.448000	0.26722	-0.471000	0.05019	AGA		0.443	TAMM41-008	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000339258.2	NM_138807		44	85	0	0	0	1	0	44	85				
GRIN2A	2903	broad.mit.edu	37	16	9934940	9934940	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr16:9934940C>T	ENST00000396573.2	-	7	1659	c.1350G>A	c.(1348-1350)atG>atA	p.M450I	GRIN2A_ENST00000535259.1_Missense_Mutation_p.M293I|GRIN2A_ENST00000396575.2_Missense_Mutation_p.M450I|GRIN2A_ENST00000404927.2_Missense_Mutation_p.M450I|GRIN2A_ENST00000330684.3_Missense_Mutation_p.M450I|GRIN2A_ENST00000562109.1_Missense_Mutation_p.M450I	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	450					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TCTTCACATTCATCCCCTCAT	0.418																																						ENST00000396573.2																			0				NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(1348-1350)atG>atA		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						85.0	75.0	79.0					16																	9934940		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9934940C>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.1350G>A	16.37:g.9934940C>T	ENSP00000379818:p.Met450Ile					GRIN2A_ENST00000330684.3_Missense_Mutation_p.M450I|GRIN2A_ENST00000404927.2_Missense_Mutation_p.M450I|GRIN2A_ENST00000396575.2_Missense_Mutation_p.M450I|GRIN2A_ENST00000535259.1_Missense_Mutation_p.M293I|GRIN2A_ENST00000562109.1_Missense_Mutation_p.M450I	p.M450I	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			7	1659	-			450					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.1350G>A	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	10.16	1.273924	0.23221	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.09911	2.93;2.93;2.93;2.93;2.93	5.63	3.61	0.41365	Glutamate receptor, L-glutamate/glycine-binding (1);Ionotropic glutamate receptor (1);	0.138667	0.64402	D	0.000004	T	0.04003	0.0112	N	0.03608	-0.345	0.28378	N	0.919687	B;B;B	0.09022	0.0;0.002;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.37337	-0.9710	9	.	.	.	.	7.216	0.25959	0.3099:0.4863:0.2038:0.0	.	293;450;450	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	I	450;450;293;450;450	ENSP00000379818:M450I;ENSP00000385872:M450I;ENSP00000441572:M293I;ENSP00000332549:M450I;ENSP00000379820:M450I	.	M	-	3	0	GRIN2A	9842441	0.994000	0.37717	0.997000	0.53966	0.984000	0.73092	0.322000	0.19576	1.368000	0.46115	0.655000	0.94253	ATG		0.418	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			22	57	0	0	0	1	0	22	57				
TTF1	7270	broad.mit.edu	37	9	135267530	135267530	+	Silent	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr9:135267530C>T	ENST00000334270.2	-	6	1959	c.1920G>A	c.(1918-1920)aaG>aaA	p.K640K		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	640	Myb-like 1. {ECO:0000255|PROSITE- ProRule:PRU00133}.				chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		CACCAATCGTCTTCCAGTCAT	0.493																																						ENST00000334270.2																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1918-1920)aaG>aaA		transcription termination factor, RNA polymerase I							91.0	80.0	84.0					9																	135267530		2203	4300	6503	SO:0001819	synonymous_variant	7270				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	g.chr9:135267530C>T	BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.1920G>A	9.37:g.135267530C>T							p.K640K	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)	6	1959	-		Myeloproliferative disorder(178;0.204)	640			Myb-like 1.		A1L160|Q4VXF3|Q58EY2|Q6P5T5	Silent	SNP	ENST00000334270.2	37	c.1920G>A	CCDS6948.1																																																																																				0.493	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344		9	29	0	0	0	1	0	9	29				
KDM5C	8242	broad.mit.edu	37	X	53225148	53225148	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:53225148C>A	ENST00000375401.3	-	20	3602	c.3070G>T	c.(3070-3072)Gag>Tag	p.E1024*	KDM5C_ENST00000375379.3_Nonsense_Mutation_p.E1024*|KDM5C_ENST00000375383.3_Nonsense_Mutation_p.E983*|KDM5C_ENST00000452825.3_Nonsense_Mutation_p.E957*|KDM5C_ENST00000404049.3_Nonsense_Mutation_p.E1023*	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	1024					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						GCAAGAGCCTCCTTGAGAGCC	0.567			"""N, F, S"""		clear cell renal carcinoma																																	ENST00000452825.3				Rec	yes		X	Xp11.22-p11.21	8242	"""N, F, S"""	lysine (K)-specific demethylase 5C (JARID1C)			E			clear cell renal carcinoma		0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						c.(2869-2871)Gag>Tag		lysine (K)-specific demethylase 5C							111.0	88.0	95.0					X																	53225148		2203	4300	6503	SO:0001587	stop_gained	8242				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chrX:53225148C>A	Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11114	protein-coding gene	gene with protein product		314690	"""Jumonji, AT rich interactive domain 1C (RBP2-like)"", ""Smcy homolog, X-linked (mouse)"", ""jumonji, AT rich interactive domain 1C"", ""mental retardation, X-linked 13"""	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.3070G>T	X.37:g.53225148C>A	ENSP00000364550:p.Glu1024*					KDM5C_ENST00000404049.3_Nonsense_Mutation_p.E1023*|KDM5C_ENST00000375379.3_Nonsense_Mutation_p.E1024*|KDM5C_ENST00000375383.3_Nonsense_Mutation_p.E983*|KDM5C_ENST00000375401.3_Nonsense_Mutation_p.E1024*	p.E957*	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN			18	3401	-			1024					B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Nonsense_Mutation	SNP	ENST00000375401.3	37	c.2869G>T	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	c	46	12.444294	0.99668	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	.	.	.	4.92	4.92	0.64577	.	0.240790	0.43579	D	0.000560	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-14.2813	14.7089	0.69211	0.0:1.0:0.0:0.0	.	.	.	.	X	957;1024;1023;1024;983	.	ENSP00000364528:E1024X	E	-	1	0	KDM5C	53241873	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.795000	0.85887	2.054000	0.61138	0.425000	0.28330	GAG		0.567	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		7	14	1	0	0.0293803	1	0.0295724	7	14				
USP48	84196	broad.mit.edu	37	1	22056206	22056206	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:22056206G>A	ENST00000308271.9	-	10	1939	c.1291C>T	c.(1291-1293)Caa>Taa	p.Q431*	USP48_ENST00000421625.2_Nonsense_Mutation_p.Q431*|USP48_ENST00000400301.1_Nonsense_Mutation_p.Q431*|USP48_ENST00000529637.1_Nonsense_Mutation_p.Q430*	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	431					ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		CCTGGAACTTGAACAGTAGTG	0.373																																						ENST00000308271.9																			0				NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1291-1293)Caa>Taa		ubiquitin specific peptidase 48							175.0	155.0	162.0					1																	22056206		2203	4300	6503	SO:0001587	stop_gained	84196				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:22056206G>A	AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"""Ubiquitin-specific peptidases"""	18533	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"", ""ubiquitin specific protease 48"""	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.1291C>T	1.37:g.22056206G>A	ENSP00000309262:p.Gln431*					USP48_ENST00000400301.1_Nonsense_Mutation_p.Q431*|USP48_ENST00000421625.2_Nonsense_Mutation_p.Q431*|USP48_ENST00000529637.1_Nonsense_Mutation_p.Q430*	p.Q431*	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)	10	1939	-		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	431					B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Nonsense_Mutation	SNP	ENST00000308271.9	37	c.1291C>T	CCDS30623.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.133929	0.77662	.	.	ENSG00000090686	ENST00000400301;ENST00000308271;ENST00000529637;ENST00000526044;ENST00000534705;ENST00000421625	.	.	.	5.59	2.57	0.30868	.	0.213930	0.47455	D	0.000223	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	18.3938	0.90492	0.0:0.5846:0.4154:0.0	.	.	.	.	X	431;431;430;17;53;431	.	ENSP00000309262:Q431X	Q	-	1	0	USP48	21928793	0.942000	0.31987	0.343000	0.25615	0.737000	0.42083	1.716000	0.37981	0.346000	0.23899	0.557000	0.71058	CAA		0.373	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021372.1	NM_032236		20	85	0	0	0	1	0	20	85				
SEMA3F	6405	broad.mit.edu	37	3	50220147	50220147	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:50220147C>A	ENST00000002829.3	+	9	1318	c.834C>A	c.(832-834)ttC>ttA	p.F278L	SEMA3F_ENST00000434342.1_Missense_Mutation_p.F247L|SEMA3F_ENST00000413852.1_Missense_Mutation_p.F179L	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	278	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|negative regulation of axon extension involved in axon guidance (GO:0048843)|nerve development (GO:0021675)|neural crest cell migration (GO:0001755)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	extracellular space (GO:0005615)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|receptor activity (GO:0004872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		TTTACTTCTTCTTCCGTGAGC	0.627																																						ENST00000002829.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						c.(832-834)ttC>ttA		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F							66.0	75.0	72.0					3																	50220147		2203	4300	6503	SO:0001583	missense	6405				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity	g.chr3:50220147C>A	U33920	CCDS2811.1	3p21.3	2013-01-11			ENSG00000001617	ENSG00000001617		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10728	protein-coding gene	gene with protein product	"""sema IV"""	601124				8786119, 8649831	Standard	NM_004186		Approved	SEMAK, Sema4	uc003cyj.3	Q13275	OTTHUMG00000156806	ENST00000002829.3:c.834C>A	3.37:g.50220147C>A	ENSP00000002829:p.Phe278Leu					SEMA3F_ENST00000413852.1_Missense_Mutation_p.F179L|SEMA3F_ENST00000434342.1_Missense_Mutation_p.F247L	p.F278L	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)	9	1318	+			278			Sema.		C9JQ85|Q13274|Q13372|Q15704|Q6GTR4	Missense_Mutation	SNP	ENST00000002829.3	37	c.834C>A	CCDS2811.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.835800	0.91117	.	.	ENSG00000001617	ENST00000414301;ENST00000450338;ENST00000413852;ENST00000002829;ENST00000434342	T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6	5.52	5.52	0.82312	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.39118	0.1066	M	0.66297	2.02	0.52501	D	0.99995	P;B	0.49358	0.923;0.029	P;B	0.47044	0.535;0.033	T	0.32534	-0.9903	10	0.87932	D	0	.	11.4985	0.50424	0.0:0.9172:0.0:0.0828	.	247;278	C9JQ85;Q13275	.;SEM3F_HUMAN	L	247;247;179;278;247	ENSP00000392588:F247L;ENSP00000398399:F247L;ENSP00000388931:F179L;ENSP00000002829:F278L;ENSP00000409859:F247L	ENSP00000002829:F278L	F	+	3	2	SEMA3F	50195151	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	3.161000	0.50747	2.598000	0.87819	0.462000	0.41574	TTC		0.627	SEMA3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345929.1	NM_004186		27	93	1	0	5.61819e-17	1	6.02927e-17	27	93				
NOTCH1	4851	broad.mit.edu	37	9	139413130	139413130	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr9:139413130C>T	ENST00000277541.6	-	6	1087	c.1012G>A	c.(1012-1014)Gac>Aac	p.D338N	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	338	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CTGGCACAGTCATCAATGTTC	0.632			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(1012-1014)Gac>Aac		notch 1							47.0	53.0	51.0					9																	139413130		2198	4298	6496	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139413130C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1012G>A	9.37:g.139413130C>T	ENSP00000277541:p.Asp338Asn	HNSCC(8;0.001)					p.D338N	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	6	1087	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	338			EGF-like 9; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.1012G>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	35	5.592396	0.96590	.	.	ENSG00000148400	ENST00000277541	D	0.88509	-2.39	5.12	5.12	0.69794	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.93494	0.7924	M	0.63169	1.94	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94093	0.7355	10	0.72032	D	0.01	.	17.1039	0.86657	0.0:1.0:0.0:0.0	.	338	P46531	NOTC1_HUMAN	N	338	ENSP00000277541:D338N	ENSP00000277541:D338N	D	-	1	0	NOTCH1	138532951	1.000000	0.71417	0.994000	0.49952	0.973000	0.67179	7.526000	0.81920	2.374000	0.81015	0.561000	0.74099	GAC		0.632	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		13	28	0	0	0	1	0	13	28				
RNF149	284996	broad.mit.edu	37	2	101893723	101893723	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:101893723G>A	ENST00000295317.3	-	7	1287	c.1180C>T	c.(1180-1182)Cgg>Tgg	p.R394W		NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	394					cellular response to drug (GO:0035690)|negative regulation of MAPK cascade (GO:0043409)|regulation of protein stability (GO:0031647)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						CCTCCATGCCGAGAGTCACTC	0.468																																					Colon(25;331 612 6521 7355 31028)	ENST00000295317.3																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						c.(1180-1182)Cgg>Tgg		ring finger protein 149							47.0	47.0	47.0					2																	101893723		2203	4300	6503	SO:0001583	missense	284996					integral to membrane	ligase activity|zinc ion binding	g.chr2:101893723G>A	AK074985	CCDS2051.1	2q12.1	2013-01-09			ENSG00000163162	ENSG00000163162		"""RING-type (C3HC4) zinc fingers"""	23137	protein-coding gene	gene with protein product							Standard	NM_173647		Approved	FLJ90504	uc002taz.2	Q8NC42	OTTHUMG00000130685	ENST00000295317.3:c.1180C>T	2.37:g.101893723G>A	ENSP00000295317:p.Arg394Trp						p.R394W	NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN			7	1287	-			394					Q53S14|Q8N5I8|Q8NBY5|Q8WUU3	Missense_Mutation	SNP	ENST00000295317.3	37	c.1180C>T	CCDS2051.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.460767	0.26248	.	.	ENSG00000163162	ENST00000295317	T	0.08984	3.03	4.65	2.79	0.32731	.	0.632215	0.15395	N	0.264606	T	0.05547	0.0146	N	0.22421	0.69	0.09310	N	1	D	0.60575	0.988	B	0.41299	0.353	T	0.33317	-0.9873	10	0.72032	D	0.01	.	5.9267	0.19116	0.1047:0.1974:0.698:0.0	.	394	Q8NC42	RN149_HUMAN	W	394	ENSP00000295317:R394W	ENSP00000295317:R394W	R	-	1	2	RNF149	101260155	0.034000	0.19679	0.077000	0.20336	0.013000	0.08279	1.880000	0.39628	1.075000	0.40932	0.563000	0.77884	CGG		0.468	RNF149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253180.2	NM_173647		10	24	0	0	0	1	0	10	24				
PDZD2	23037	broad.mit.edu	37	5	32087656	32087656	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:32087656C>T	ENST00000438447.1	+	20	4490	c.4102C>T	c.(4102-4104)Cat>Tat	p.H1368Y	PDZD2_ENST00000282493.3_Missense_Mutation_p.H1368Y			O15018	PDZD2_HUMAN	PDZ domain containing 2	1368					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GACAGGAATCCATGCACCTGA	0.597																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(4102-4104)Cat>Tat		PDZ domain containing 2							37.0	38.0	38.0					5																	32087656		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32087656C>T	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.4102C>T	5.37:g.32087656C>T	ENSP00000402033:p.His1368Tyr					PDZD2_ENST00000282493.3_Missense_Mutation_p.H1368Y	p.H1368Y			O15018	PDZD2_HUMAN			20	4490	+			1368					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.4102C>T	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	C	4.517	0.095886	0.08681	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.05855	3.38;3.38	4.06	0.148	0.14843	.	2.656580	0.01137	N	0.006109	T	0.04137	0.0115	N	0.22421	0.69	0.09310	N	1	B	0.09022	0.002	B	0.14578	0.011	T	0.31916	-0.9926	10	0.02654	T	1	.	3.3957	0.07304	0.0:0.4475:0.2022:0.3503	.	1368	O15018	PDZD2_HUMAN	Y	1368;1169;1368	ENSP00000402033:H1368Y;ENSP00000282493:H1368Y	ENSP00000282493:H1368Y	H	+	1	0	PDZD2	32123413	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.900000	0.04097	0.006000	0.14734	0.655000	0.94253	CAT		0.597	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			9	34	0	0	0	1	0	9	34				
DDX23	9416	broad.mit.edu	37	12	49230515	49230515	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:49230515G>C	ENST00000308025.3	-	10	1152	c.1073C>G	c.(1072-1074)tCt>tGt	p.S358C	DDX23_ENST00000553182.1_5'Flank	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	358					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|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)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)	p.S358F(1)		NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						CTTTTTCTGAGACCAATGACG	0.532																																						ENST00000308025.3																			1	Substitution - Missense(1)	p.S358F(1)	cervix(1)	NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						c.(1072-1074)tCt>tGt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 23							174.0	162.0	166.0					12																	49230515		2203	4300	6503	SO:0001583	missense	9416					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding	g.chr12:49230515G>C	AF026402	CCDS8770.1	12q13.11	2013-07-16				ENSG00000174243		"""DEAD-boxes"""	17347	protein-coding gene	gene with protein product		612172	"""PRP28 homolog, yeast"""			9409622, 9539711	Standard	NM_004818		Approved	prp28, U5-100K, PRPF28, SNRNP100	uc001rsm.3	Q9BUQ8		ENST00000308025.3:c.1073C>G	12.37:g.49230515G>C	ENSP00000310723:p.Ser358Cys						p.S358C	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN			10	1152	-			358					B2R600|B4DH15|O43188	Missense_Mutation	SNP	ENST00000308025.3	37	c.1073C>G	CCDS8770.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.847980	0.91277	.	.	ENSG00000174243	ENST00000308025	T	0.24151	1.87	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.52125	0.1715	M	0.79926	2.475	0.80722	D	1	D	0.76494	0.999	P	0.59825	0.864	T	0.55464	-0.8137	10	0.87932	D	0	-10.663	18.8567	0.92255	0.0:0.0:1.0:0.0	.	358	Q9BUQ8	DDX23_HUMAN	C	358	ENSP00000310723:S358C	ENSP00000310723:S358C	S	-	2	0	DDX23	47516782	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.756000	0.85195	2.756000	0.94617	0.561000	0.74099	TCT		0.532	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408897.2	NM_004818		56	183	0	0	0	1	0	56	183				
A4GALT	53947	broad.mit.edu	37	22	43089285	43089285	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr22:43089285G>A	ENST00000401850.1	-	2	1162	c.673C>T	c.(673-675)Cgc>Tgc	p.R225C	A4GALT_ENST00000381278.3_Missense_Mutation_p.R225C|A4GALT_ENST00000249005.2_Missense_Mutation_p.R225C|A4GALT_ENST00000465765.2_5'Flank			Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	225					globoside biosynthetic process (GO:0001576)|glycosphingolipid biosynthetic process (GO:0006688)|plasma membrane organization (GO:0007009)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	galactosyltransferase activity (GO:0008378)|lactosylceramide 4-alpha-galactosyltransferase activity (GO:0050512)|toxic substance binding (GO:0015643)			NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						TCGTGCCGGCGCTCGAAGGCC	0.637																																						ENST00000401850.1																			0				NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						c.(673-675)Cgc>Tgc		alpha 1,4-galactosyltransferase							32.0	26.0	28.0					22																	43089285		2203	4300	6503	SO:0001583	missense	53947				glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity	g.chr22:43089285G>A		CCDS14041.1	22q13.2	2014-07-18	2008-07-31		ENSG00000128274	ENSG00000128274	2.4.1.228		18149	protein-coding gene	gene with protein product	"""Gb3 synthase"", ""CD77 synthase"", ""globotriaosylceramide synthase"", ""lactosylceramide 4-alpha-galactosyltransferase"""	607922	"""alpha 1,4-galactosyltransferase (globotriaosylceramide synthase, P blood group)"""			10854428	Standard	XM_005261643		Approved	A14GALT, Gb3S, P(k)	uc003bdb.3	Q9NPC4	OTTHUMG00000150744	ENST00000401850.1:c.673C>T	22.37:g.43089285G>A	ENSP00000384794:p.Arg225Cys					A4GALT_ENST00000381278.3_Missense_Mutation_p.R225C|A4GALT_ENST00000249005.2_Missense_Mutation_p.R225C	p.R225C			Q9NPC4	A4GAT_HUMAN			2	1162	-			225					B2R7C4|Q9P1X5	Missense_Mutation	SNP	ENST00000401850.1	37	c.673C>T	CCDS14041.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.121669	0.56613	.	.	ENSG00000128274	ENST00000401850;ENST00000249005;ENST00000381278;ENST00000535654	T;T;T	0.81330	-1.48;-1.48;-1.48	5.13	5.13	0.70059	Alpha 1,4-glycosyltransferase domain (1);	0.107345	0.39985	N	0.001218	D	0.85292	0.5663	M	0.71581	2.175	0.46701	D	0.999164	D	0.65815	0.995	P	0.51266	0.664	D	0.87374	0.2352	10	0.66056	D	0.02	-3.7012	18.1751	0.89759	0.0:0.0:1.0:0.0	.	225	Q9NPC4	A4GAT_HUMAN	C	225	ENSP00000384794:R225C;ENSP00000249005:R225C;ENSP00000370678:R225C	ENSP00000249005:R225C	R	-	1	0	A4GALT	41419229	0.527000	0.26306	0.974000	0.42286	0.270000	0.26580	3.366000	0.52343	2.405000	0.81733	0.561000	0.74099	CGC		0.637	A4GALT-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319917.1	NM_017436		16	38	0	0	0	1	0	16	38				
SLIT2	9353	broad.mit.edu	37	4	20619061	20619061	+	Splice_Site	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr4:20619061G>C	ENST00000504154.1	+	36	4388		c.e36-1		SLIT2_ENST00000503837.1_Splice_Site|SLIT2_ENST00000503823.1_Splice_Site|SLIT2_ENST00000273739.5_Splice_Site	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)						apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CCTCCCTGTAGATGCGTACAT	0.493																																						ENST00000504154.1																			0				NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.e36-1		slit homolog 2 (Drosophila)							85.0	74.0	78.0					4																	20619061		2203	4300	6503	SO:0001630	splice_region_variant	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20619061G>C	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.4137-1G>C	4.37:g.20619061G>C						SLIT2_ENST00000503837.1_Splice_Site|SLIT2_ENST00000503823.1_Splice_Site|SLIT2_ENST00000273739.5_Splice_Site		NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			36	4388	+								B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Splice_Site	SNP	ENST00000504154.1	37		CCDS3426.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.033998	0.54896	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	.	.	.	5.9	5.9	0.94986	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4595	0.90734	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLIT2	20228159	1.000000	0.71417	0.179000	0.23059	0.013000	0.08279	7.873000	0.87193	2.788000	0.95919	0.650000	0.86243	.		0.493	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2		Intron	4	27	0	0	0	1	0	4	27				
TENM3	55714	broad.mit.edu	37	4	183672970	183672970	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr4:183672970G>A	ENST00000511685.1	+	20	3770	c.3647G>A	c.(3646-3648)aGa>aAa	p.R1216K	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.R1216K			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1216					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CCAGCTCATAGATACTACCTT	0.428																																						ENST00000511685.1																			0											c.(3646-3648)aGa>aAa		teneurin transmembrane protein 3							96.0	93.0	94.0					4																	183672970		1887	4128	6015	SO:0001583	missense	55714							g.chr4:183672970G>A	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.3647G>A	4.37:g.183672970G>A	ENSP00000424226:p.Arg1216Lys					TENM3_ENST00000406950.2_Missense_Mutation_p.R1216K|TENM3_ENST00000502950.1_3'UTR	p.R1216K							20	3770	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.3647G>A	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.383261	0.25031	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.90069	-2.61;-2.61	5.38	5.38	0.77491	Six-bladed beta-propeller, TolB-like (1);	.	.	.	.	D	0.83073	0.5175	N	0.01686	-0.76	0.58432	D	0.999999	P	0.52842	0.956	P	0.62184	0.899	T	0.78836	-0.2047	9	0.02654	T	1	.	19.317	0.94218	0.0:0.0:1.0:0.0	.	1216	Q9P273	TEN3_HUMAN	K	1216	ENSP00000424226:R1216K;ENSP00000385276:R1216K	ENSP00000385276:R1216K	R	+	2	0	ODZ3	183909964	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.601000	0.98297	2.806000	0.96561	0.655000	0.94253	AGA		0.428	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			31	93	0	0	0	1	0	31	93				
MAGEE1	57692	broad.mit.edu	37	X	75650102	75650102	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:75650102G>A	ENST00000361470.2	+	1	2057	c.1779G>A	c.(1777-1779)ctG>ctA	p.L593L		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	593	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						AAATATTCCTGAATGGCAACC	0.502																																						ENST00000361470.2																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						c.(1777-1779)ctG>ctA		melanoma antigen family E, 1							40.0	35.0	37.0					X																	75650102		2203	4300	6503	SO:0001819	synonymous_variant	57692					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		g.chrX:75650102G>A	AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.1779G>A	X.37:g.75650102G>A							p.L593L	NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN			1	2057	+			593			MAGE 1.		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Silent	SNP	ENST00000361470.2	37	c.1779G>A	CCDS14433.1																																																																																				0.502	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932		7	32	0	0	0	1	0	7	32				
LARP4	113251	broad.mit.edu	37	12	50855032	50855032	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:50855032G>A	ENST00000398473.2	+	11	1348	c.1236G>A	c.(1234-1236)cgG>cgA	p.R412R	LARP4_ENST00000522085.1_Silent_p.R412R|LARP4_ENST00000429001.3_Silent_p.R418R|LARP4_ENST00000347328.5_Silent_p.R341R|LARP4_ENST00000518444.1_Silent_p.R411R|LARP4_ENST00000518561.1_Silent_p.R342R|LARP4_ENST00000293618.8_Intron	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	412					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						CAGCTGAACGGCATAACCCCA	0.488																																						ENST00000398473.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						c.(1234-1236)cgG>cgA		La ribonucleoprotein domain family, member 4							124.0	115.0	118.0					12																	50855032		1915	4110	6025	SO:0001819	synonymous_variant	113251						nucleotide binding|RNA binding	g.chr12:50855032G>A	AY004310	CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1	12q13.12	2005-08-09			ENSG00000161813	ENSG00000161813		"""La ribonucleoprotein domain containing"""	24320	protein-coding gene	gene with protein product						12477932	Standard	NM_052879		Approved	PP13296	uc001rwp.2	Q71RC2	OTTHUMG00000163724	ENST00000398473.2:c.1236G>A	12.37:g.50855032G>A						LARP4_ENST00000518561.1_Silent_p.R342R|LARP4_ENST00000293618.8_Intron|LARP4_ENST00000522085.1_Silent_p.R412R|LARP4_ENST00000429001.3_Silent_p.R418R|LARP4_ENST00000347328.5_Silent_p.R341R|LARP4_ENST00000518444.1_Silent_p.R411R	p.R412R	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN			11	1348	+			412					A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Silent	SNP	ENST00000398473.2	37	c.1236G>A	CCDS41782.1																																																																																				0.488	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374981.1	NM_052879		4	134	0	0	0	1	0	4	134				
HCG27	253018	broad.mit.edu	37	6	31170541	31170541	+	Silent	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:31170541C>T	ENST00000383331.4	+	2	516	c.516C>T	c.(514-516)gtC>gtT	p.V172V	HCG27_ENST00000415276.1_3'UTR|XXbac-BPG299F13.14_ENST00000606909.1_lincRNA					HLA complex group 27 (non-protein coding)																		TGTCCTCAGTCACCCTCTGAG	0.577																																						ENST00000383331.4																			0											c.(514-516)gtC>gtT									189.0	208.0	202.0					6																	31170541		1289	2568	3857	SO:0001819	synonymous_variant	253018							g.chr6:31170541C>T	AK097442		6p21.3	2012-10-16	2011-08-31		ENSG00000206344	ENSG00000206344		"""Long non-coding RNAs"""	27366	non-coding RNA	RNA, long non-coding			"""HLA complex group 27"""			12477932	Standard	NR_026791		Approved	bPG299F13.9, bCX101P6.9, bQB115I13.2, FLJ40123	uc011dni.3		OTTHUMG00000031248	ENST00000383331.4:c.516C>T	6.37:g.31170541C>T						HCG27_ENST00000415276.1_3'UTR	p.V172V							2	516	+									Silent	SNP	ENST00000383331.4	37	c.516C>T																																																																																					0.577	HCG27-001	PUTATIVE	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000257970.2	NR_026791		51	147	0	0	0	1	0	51	147				
ZBTB9	221504	broad.mit.edu	37	6	33422991	33422991	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:33422991G>A	ENST00000395064.2	+	2	382	c.114G>A	c.(112-114)ctG>ctA	p.L38L		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	38					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						TGGAATCTCTGAACCGCCACA	0.587																																						ENST00000395064.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						c.(112-114)ctG>ctA		zinc finger and BTB domain containing 9							107.0	107.0	107.0					6																	33422991		2203	4300	6503	SO:0001819	synonymous_variant	221504				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33422991G>A	AK122644	CCDS4780.1	6p21.31	2013-01-09			ENSG00000213588	ENSG00000213588		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	28323	protein-coding gene	gene with protein product						12477932	Standard	NM_152735		Approved	MGC23166, ZNF919	uc003oeq.3	Q96C00	OTTHUMG00000140180	ENST00000395064.2:c.114G>A	6.37:g.33422991G>A							p.L38L	NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN			2	382	+			38					A2AB19	Silent	SNP	ENST00000395064.2	37	c.114G>A	CCDS4780.1																																																																																				0.587	ZBTB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276533.1	NM_152735		44	138	0	0	0	1	0	44	138				
ETV1	2115	broad.mit.edu	37	7	13975371	13975371	+	Silent	SNP	C	C	T	rs373561573		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr7:13975371C>T	ENST00000430479.1	-	8	1183	c.516G>A	c.(514-516)tcG>tcA	p.S172S	ETV1_ENST00000405358.4_Silent_p.S186S|ETV1_ENST00000343495.5_Silent_p.S154S|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000420159.2_Silent_p.S114S|ETV1_ENST00000399357.3_Intron|ETV1_ENST00000242066.5_Silent_p.S154S|ETV1_ENST00000405218.2_Silent_p.S172S|ETV1_ENST00000403527.1_Silent_p.S132S|ETV1_ENST00000405192.2_Silent_p.S172S|ETV1_ENST00000403685.1_Silent_p.S154S	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	172					axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						GTATGGACTGCGATGGAGGGA	0.498			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""																																	ENST00000343495.5				Dom	yes		7	7p22	2115	T	ets variant gene 1			"""M, E"""	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""		"""Ewing sarcoma, prostate"""	TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(460-462)tcG>tcA		ets variant 1		C	,,,,,,	1,4149		0,1,2074	206.0	208.0	208.0		516,462,462,396,342,,516	-0.9	1.0	7		208	0,8438		0,0,4219	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,intron,coding-synonymous	ETV1	NM_001163147.1,NM_001163148.1,NM_001163149.1,NM_001163150.1,NM_001163151.1,NM_001163152.1,NM_004956.4	,,,,,,	0,1,6293	TT,TC,CC		0.0,0.0241,0.0079	,,,,,,	172/455,154/460,154/460,132/438,114/420,,172/478	13975371	1,12587	2075	4219	6294	SO:0001819	synonymous_variant	2115				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:13975371C>T		CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"""ets variant gene 1"""			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.516G>A	7.37:g.13975371C>T						ETV1_ENST00000242066.5_Silent_p.S154S|ETV1_ENST00000405218.2_Silent_p.S172S|ETV1_ENST00000420159.2_Silent_p.S114S|ETV1_ENST00000403685.1_Silent_p.S154S|ETV1_ENST00000399357.3_Intron|ETV1_ENST00000405192.2_Silent_p.S172S|ETV1_ENST00000403527.1_Silent_p.S132S|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000430479.1_Silent_p.S172S|ETV1_ENST00000405358.4_Silent_p.S186S	p.S154S			P50549	ETV1_HUMAN			7	1200	-			172					A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Silent	SNP	ENST00000430479.1	37	c.462G>A	CCDS55088.1																																																																																				0.498	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	NM_004956		4	161	0	0	0	1	0	4	161				
HRAS	3265	broad.mit.edu	37	11	534285	534285	+	Missense_Mutation	SNP	C	C	A	rs104894226		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:534285C>A	ENST00000451590.1	-	2	225	c.38G>T	c.(37-39)gGt>gTt	p.G13V	HRAS_ENST00000417302.1_Missense_Mutation_p.G13V|HRAS_ENST00000311189.7_Missense_Mutation_p.G13V|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.G13V|HRAS_ENST00000397594.1_Missense_Mutation_p.G13V	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	13			G -> C (in CSTLO). {ECO:0000269|PubMed:16329078}.|G -> D (in CSTLO). {ECO:0000269|PubMed:16170316}.|G -> R (in SFM; somatic mutation; shows constitutive activation of the MAPK and PI3K-AKT signaling pathways). {ECO:0000269|PubMed:22683711}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.G13V(14)|p.G13D(10)|p.G12_G13insAG(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTTGCCCACACCGCCGGCGCC	0.642		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1		6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""	"""infrequent sarcomas, rare other types"""		25	Substitution - Missense(24)|Insertion - In frame(1)	p.G13V(14)|p.G13D(10)|p.G12_G13insAG(1)	upper_aerodigestive_tract(9)|thyroid(5)|urinary_tract(5)|lung(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|thymus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901	GRCh37	CM053285	HRAS	M	rs104894226	c.(37-39)gGt>gTt		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						89.0	83.0	85.0					11																	534285		2202	4300	6502	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:534285C>A	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.38G>T	11.37:g.534285C>A	ENSP00000407586:p.Gly13Val	HNSCC(11;0.0054)				HRAS_ENST00000397594.1_Missense_Mutation_p.G13V|HRAS_ENST00000311189.7_Missense_Mutation_p.G13V|HRAS_ENST00000397596.2_Missense_Mutation_p.G13V|HRAS_ENST00000451590.1_Missense_Mutation_p.G13V|HRAS_ENST00000468682.2_5'UTR	p.G13V	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	225	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	13		G -> C (in FCSS).|G -> D (in FCSS).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.38G>T	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344392	0.61073	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81;-0.81	3.0	3.0	0.34707	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.88716	0.6512	H	0.94264	3.515	0.80722	D	1	D;D	0.69078	0.997;0.996	D;D	0.69824	0.943;0.966	D	0.92025	0.5629	10	0.87932	D	0	.	14.1517	0.65389	0.0:1.0:0.0:0.0	.	13;13	P01112-2;P01112	.;RASH_HUMAN	V	13	ENSP00000380722:G13V;ENSP00000380723:G13V;ENSP00000407586:G13V;ENSP00000388246:G13V;ENSP00000309845:G13V	ENSP00000309845:G13V	G	-	2	0	HRAS	524285	1.000000	0.71417	0.470000	0.27216	0.232000	0.25224	7.472000	0.80996	1.986000	0.57962	0.561000	0.74099	GGT		0.642	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		12	43	1	0	6.31663e-08	1	6.55058e-08	12	43				
IL1RL2	8808	broad.mit.edu	37	2	102805746	102805746	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:102805746C>T	ENST00000264257.2	+	3	395	c.269C>T	c.(268-270)tCa>tTa	p.S90L	IL1RL2_ENST00000441515.2_Intron|IL1RL2_ENST00000539491.1_Missense_Mutation_p.S90L|IL1RL2_ENST00000481806.1_Intron	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	90	Ig-like C2-type 1.				cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TGGGGGGACTCAGGAGTCTAC	0.343																																						ENST00000264257.2																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						c.(268-270)tCa>tTa		interleukin 1 receptor-like 2							42.0	43.0	43.0					2																	102805746		2203	4300	6503	SO:0001583	missense	8808				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity	g.chr2:102805746C>T	U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.269C>T	2.37:g.102805746C>T	ENSP00000264257:p.Ser90Leu					IL1RL2_ENST00000441515.2_Intron|IL1RL2_ENST00000481806.1_Intron|IL1RL2_ENST00000539491.1_Missense_Mutation_p.S90L	p.S90L	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN			3	395	+			90			Ig-like C2-type 1.		A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Missense_Mutation	SNP	ENST00000264257.2	37	c.269C>T	CCDS2056.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.473893	0.63737	.	.	ENSG00000115598	ENST00000264257;ENST00000421464;ENST00000539491	T;T;T	0.16196	2.36;2.36;2.36	5.86	5.86	0.93980	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.752485	0.13293	N	0.398826	T	0.44582	0.1300	M	0.77103	2.36	0.43499	D	0.995747	D	0.67145	0.996	D	0.65773	0.938	T	0.17776	-1.0358	10	0.87932	D	0	.	16.0536	0.80779	0.0:1.0:0.0:0.0	.	90	Q9HB29	ILRL2_HUMAN	L	90	ENSP00000264257:S90L;ENSP00000387611:S90L;ENSP00000442184:S90L	ENSP00000264257:S90L	S	+	2	0	IL1RL2	102172178	0.911000	0.30947	0.583000	0.28640	0.275000	0.26752	4.019000	0.57181	2.937000	0.99478	0.650000	0.86243	TCA		0.343	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253290.1	NM_003854		9	22	0	0	0	1	0	9	22				
GNPDA1	10007	broad.mit.edu	37	5	141385883	141385883	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:141385883G>A	ENST00000508177.1	-	3	993	c.235C>T	c.(235-237)Cga>Tga	p.R79*	GNPDA1_ENST00000311337.6_Nonsense_Mutation_p.R79*|GNPDA1_ENST00000500692.2_Nonsense_Mutation_p.R79*|GNPDA1_ENST00000503794.1_Nonsense_Mutation_p.R79*|GNPDA1_ENST00000458112.2_Nonsense_Mutation_p.R45*|GNPDA1_ENST00000513454.1_Nonsense_Mutation_p.R79*|GNPDA1_ENST00000542860.1_Intron			P46926	GNPI1_HUMAN	glucosamine-6-phosphate deaminase 1	79					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucosamine catabolic process (GO:0006043)|N-acetylglucosamine metabolic process (GO:0006044)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glucosamine-6-phosphate deaminase activity (GO:0004342)|hydrolase activity (GO:0016787)			central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGTGGTCTCGAGGAAGGCCT	0.537																																						ENST00000508177.1																			0				central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6						c.(235-237)Cga>Tga		glucosamine-6-phosphate deaminase 1							145.0	132.0	137.0					5																	141385883		2203	4300	6503	SO:0001587	stop_gained	10007				generation of precursor metabolites and energy|glucosamine catabolic process|N-acetylglucosamine metabolic process|single fertilization	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity	g.chr5:141385883G>A	AF048826	CCDS4272.1	5q21	2008-02-05	2003-10-17	2003-10-22	ENSG00000113552	ENSG00000113552	3.5.99.6		4417	protein-coding gene	gene with protein product	"""glucosamine-6-phosphate deaminase"", ""oscillin"""	601798	"""glucosamine-6-phosphate isomerase"""	GNPI		9714720, 9438414	Standard	NM_005471		Approved	GNPDA, HLN, GPI, KIAA0060	uc010jgh.3	P46926	OTTHUMG00000129657	ENST00000508177.1:c.235C>T	5.37:g.141385883G>A	ENSP00000423674:p.Arg79*					GNPDA1_ENST00000500692.2_Nonsense_Mutation_p.R79*|GNPDA1_ENST00000311337.6_Nonsense_Mutation_p.R79*|GNPDA1_ENST00000458112.2_Nonsense_Mutation_p.R45*|GNPDA1_ENST00000542860.1_Intron|GNPDA1_ENST00000503794.1_Nonsense_Mutation_p.R79*|GNPDA1_ENST00000513454.1_Nonsense_Mutation_p.R79*	p.R79*			P46926	GNPI1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	993	-		all_hematologic(541;0.118)	79					B7Z3X4|D3DQE7	Nonsense_Mutation	SNP	ENST00000508177.1	37	c.235C>T	CCDS4272.1	.	.	.	.	.	.	.	.	.	.	G	40	8.459467	0.98820	.	.	ENSG00000113552	ENST00000513454;ENST00000311337;ENST00000458112;ENST00000500692;ENST00000508177;ENST00000503794;ENST00000504139;ENST00000505689;ENST00000510194;ENST00000503229	.	.	.	5.74	2.97	0.34412	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.6935	6.2032	0.20587	0.1468:0.0:0.439:0.4142	.	.	.	.	X	79;79;45;79;79;79;79;100;79;79	.	ENSP00000311876:R79X	R	-	1	2	GNPDA1	141366067	0.992000	0.36948	0.999000	0.59377	0.826000	0.46750	2.010000	0.40913	0.344000	0.23847	-0.136000	0.14681	CGA		0.537	GNPDA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370631.1	NM_005471		20	62	0	0	0	1	0	20	62				
TTLL2	83887	broad.mit.edu	37	6	167753592	167753592	+	Splice_Site	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:167753592G>C	ENST00000239587.5	+	3	292		c.e3-1			NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2						cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TCCATTTTTAGAAAAAACCTC	0.507																																						ENST00000239587.5																			0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.e3-1		tubulin tyrosine ligase-like family, member 2							58.0	63.0	61.0					6																	167753592		2200	4300	6500	SO:0001630	splice_region_variant	83887				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr6:167753592G>C	AK093039	CCDS5301.1	6q27	2013-02-14		2004-01-14	ENSG00000120440	ENSG00000120440		"""Tubulin tyrosine ligase-like family"""	21211	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 104"""	C6orf104		11054573	Standard	XM_006715572		Approved	NYD-TSPG, dJ366N23.3	uc003qvs.1	Q9BWV7	OTTHUMG00000016023	ENST00000239587.5:c.205-1G>C	6.37:g.167753592G>C								NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	3	292	+		Breast(66;7.8e-06)|Ovarian(120;0.024)						B2RB11|B3KS77|Q7Z6R8|Q86X22	Splice_Site	SNP	ENST00000239587.5	37		CCDS5301.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.841950	0.32513	.	.	ENSG00000120440	ENST00000239587	.	.	.	3.26	3.26	0.37387	.	.	.	.	.	.	.	.	.	.	.	0.52501	D	0.999959	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.159	0.42840	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TTLL2	167673582	0.990000	0.36364	0.049000	0.19019	0.399000	0.30720	2.266000	0.43320	1.819000	0.53055	0.484000	0.47621	.		0.507	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043127.3	NM_031949	Intron	23	63	0	0	0	1	0	23	63				
ZNF141	7700	broad.mit.edu	37	4	367418	367418	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr4:367418G>A	ENST00000240499.7	+	4	1341	c.1192G>A	c.(1192-1194)Gaa>Aaa	p.E398K	ZNF141_ENST00000512994.1_Intron|ZNF141_ENST00000505939.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	398					anatomical structure morphogenesis (GO:0009653)|limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						CTACAAATGTGAAGAATGTGG	0.418																																						ENST00000240499.7																			0				breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						c.(1192-1194)Gaa>Aaa		zinc finger protein 141							62.0	68.0	66.0					4																	367418		2203	4299	6502	SO:0001583	missense	7700				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr4:367418G>A	L15309	CCDS33931.1	4p16.3	2013-01-08	2006-06-13			ENSG00000131127		"""Zinc fingers, C2H2-type"", ""-"""	12926	protein-coding gene	gene with protein product		194648	"""zinc finger protein 141 (clone pHZ-44)"""	D4S90		8268908	Standard	NM_003441		Approved	pHZ-44	uc003gaa.2	Q15928		ENST00000240499.7:c.1192G>A	4.37:g.367418G>A	ENSP00000240499:p.Glu398Lys					ZNF141_ENST00000512994.1_Intron|ZNF141_ENST00000505939.1_Intron	p.E398K	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN			4	1341	+			398					Q6DK07	Missense_Mutation	SNP	ENST00000240499.7	37	c.1192G>A	CCDS33931.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.121170	0.56613	.	.	ENSG00000131127	ENST00000240499	T	0.06608	3.28	1.24	1.24	0.21308	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05410	0.0143	L	0.35644	1.08	0.09310	N	1	P	0.39601	0.68	B	0.40066	0.318	T	0.36529	-0.9744	8	.	.	.	.	3.6174	0.08082	0.2802:0.0:0.7198:0.0	.	398	Q15928	ZN141_HUMAN	K	398	ENSP00000240499:E398K	.	E	+	1	0	ZNF141	357418	0.000000	0.05858	0.969000	0.41365	0.986000	0.74619	-3.819000	0.00358	0.591000	0.29711	0.313000	0.20887	GAA		0.418	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357710.1	NM_003441		41	96	0	0	0	1	0	41	96				
USP38	84640	broad.mit.edu	37	4	144135764	144135764	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr4:144135764G>C	ENST00000307017.4	+	9	3141	c.2635G>C	c.(2635-2637)Gag>Cag	p.E879Q	USP38_ENST00000510377.1_Missense_Mutation_p.E879Q	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	879	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					CCACCAGTCTGAGGCTCTGGC	0.418																																						ENST00000307017.4																			0				breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33						c.(2635-2637)Gag>Cag		ubiquitin specific peptidase 38							79.0	78.0	78.0					4																	144135764		2203	4299	6502	SO:0001583	missense	84640				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr4:144135764G>C	AF211481	CCDS3758.1	4q31.1	2008-02-05	2005-08-08		ENSG00000170185	ENSG00000170185		"""Ubiquitin-specific peptidases"""	20067	protein-coding gene	gene with protein product			"""ubiquitin specific protease 38"""			12838346	Standard	NM_032557		Approved	KIAA1891, HP43.8KD	uc003ijb.3	Q8NB14	OTTHUMG00000161420	ENST00000307017.4:c.2635G>C	4.37:g.144135764G>C	ENSP00000303434:p.Glu879Gln					USP38_ENST00000510377.1_Missense_Mutation_p.E879Q	p.E879Q	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN			9	3141	+	all_hematologic(180;0.158)		879					B3KX93|Q3ZCV1|Q8NDF5|Q96DK6|Q96PZ6|Q9BY55	Missense_Mutation	SNP	ENST00000307017.4	37	c.2635G>C	CCDS3758.1	.	.	.	.	.	.	.	.	.	.	G	11.35	1.612718	0.28712	.	.	ENSG00000170185	ENST00000510377;ENST00000307017	T;T	0.09445	2.98;3.0	5.48	5.48	0.80851	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.342024	0.32671	N	0.005799	T	0.12305	0.0299	L	0.50333	1.59	0.33111	D	0.540476	P;P	0.39920	0.605;0.695	B;B	0.40782	0.34;0.25	T	0.08006	-1.0743	10	0.39692	T	0.17	-11.3418	9.496	0.38989	0.0821:0.1468:0.7711:0.0	.	879;879	Q8NB14;Q3ZCV1	UBP38_HUMAN;.	Q	879	ENSP00000427647:E879Q;ENSP00000303434:E879Q	ENSP00000303434:E879Q	E	+	1	0	USP38	144355214	1.000000	0.71417	0.881000	0.34555	0.688000	0.40055	4.470000	0.60175	2.732000	0.93576	0.591000	0.81541	GAG		0.418	USP38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364869.1	NM_032557		23	29	0	0	0	1	0	23	29				
GPR176	11245	broad.mit.edu	37	15	40093484	40093484	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr15:40093484G>T	ENST00000561100.1	-	3	2262	c.1397C>A	c.(1396-1398)tCa>tAa	p.S466*	GPR176_ENST00000543580.1_Nonsense_Mutation_p.S421*|GPR176_ENST00000560729.1_5'Flank|RP11-37C7.1_ENST00000558616.1_RNA|GPR176_ENST00000299092.3_Nonsense_Mutation_p.S465*	NM_007223.1	NP_009154.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	466					G-protein coupled receptor signaling pathway (GO:0007186)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		TCGGGTCTCTGAGAGCCACTG	0.582																																						ENST00000299092.3																			0				central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23						c.(1393-1395)tCa>tAa		G protein-coupled receptor 176							70.0	73.0	72.0					15																	40093484		2203	4300	6503	SO:0001587	stop_gained	11245				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity	g.chr15:40093484G>T	BC067106	CCDS10051.1, CCDS61588.1, CCDS61589.1	15q14-q15.1	2012-08-21			ENSG00000166073	ENSG00000166073		"""GPCR / Class A : Orphans"""	32370	protein-coding gene	gene with protein product		612183				7893747	Standard	NM_007223		Approved	Gm1012	uc010uck.2	Q14439	OTTHUMG00000129873	ENST00000561100.1:c.1397C>A	15.37:g.40093484G>T	ENSP00000453076:p.Ser466*					RP11-37C7.1_ENST00000558616.1_RNA|GPR176_ENST00000543580.1_Nonsense_Mutation_p.S421*|GPR176_ENST00000561100.1_Nonsense_Mutation_p.S466*	p.S465*	NM_001271854.1|NM_001271855.1	NP_001258783.1|NP_001258784.1	Q14439	GP176_HUMAN		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)	4	1592	-		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)	466					Q6NXF6	Nonsense_Mutation	SNP	ENST00000561100.1	37	c.1394C>A	CCDS10051.1	.	.	.	.	.	.	.	.	.	.	G	39	7.708045	0.98444	.	.	ENSG00000166073	ENST00000299092;ENST00000543580	.	.	.	6.17	6.17	0.99709	.	0.060880	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.2145	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	466;421	.	ENSP00000299092:S466X	S	-	2	0	GPR176	37880776	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	TCA		0.582	GPR176-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252117.2	NM_007223		32	89	1	0	4.74835e-14	1	5.06053e-14	32	89				
PSD	5662	broad.mit.edu	37	10	104163154	104163154	+	Missense_Mutation	SNP	G	G	A	rs142273937	byFrequency	TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr10:104163154G>A	ENST00000020673.5	-	17	3404	c.2878C>T	c.(2878-2880)Cgg>Tgg	p.R960W	PSD_ENST00000406432.1_Missense_Mutation_p.R960W	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	960					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		AGCTTGACCCGAAGCAGCGCT	0.632																																						ENST00000020673.5																			0				breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2878-2880)Cgg>Tgg		pleckstrin and Sec7 domain containing		G	TRP/ARG	0,4406		0,0,2203	55.0	42.0	47.0		2878	4.6	1.0	10	dbSNP_134	47	6,8594	4.3+/-15.6	0,6,4294	yes	missense	PSD	NM_002779.3	101	0,6,6497	AA,AG,GG		0.0698,0.0,0.0461	probably-damaging	960/1025	104163154	6,13000	2203	4300	6503	SO:0001583	missense	5662				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr10:104163154G>A	X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"""Pleckstrin homology (PH) domain containing"""	9507	protein-coding gene	gene with protein product		602327	"""pleckstrin and Sec7 domain protein"""			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.2878C>T	10.37:g.104163154G>A	ENSP00000020673:p.Arg960Trp					PSD_ENST00000406432.1_Missense_Mutation_p.R960W	p.R960W	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN		Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)	17	3404	-			960					B1AKX7|D3DR87|Q15673|Q8IVG0	Missense_Mutation	SNP	ENST00000020673.5	37	c.2878C>T	CCDS31272.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.085571	0.76642	0.0	6.98E-4	ENSG00000059915	ENST00000020673;ENST00000541902;ENST00000406432	T;T	0.20738	2.05;2.05	4.62	4.62	0.57501	.	0.000000	0.45361	U	0.000375	T	0.38321	0.1036	L	0.52011	1.625	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.74023	0.973;0.973;0.982	T	0.09751	-1.0660	10	0.62326	D	0.03	.	12.3846	0.55325	0.0:0.0:0.8316:0.1684	.	960;863;581	A5PKW4;Q86YI3;A5PKW4-2	PSD1_HUMAN;.;.	W	960;863;960	ENSP00000020673:R960W;ENSP00000384830:R960W	ENSP00000020673:R960W	R	-	1	2	PSD	104153144	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	3.858000	0.55979	2.403000	0.81681	0.313000	0.20887	CGG		0.632	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2			13	37	0	0	0	1	0	13	37				
CPT1C	126129	broad.mit.edu	37	19	50215191	50215191	+	Silent	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:50215191C>T	ENST00000392518.4	+	17	2364	c.1992C>T	c.(1990-1992)ctC>ctT	p.L664L	CPT1C_ENST00000598293.1_Silent_p.L664L|CPT1C_ENST00000354199.5_Intron|CPT1C_ENST00000323446.5_Silent_p.L664L|CPT1C_ENST00000405931.2_Silent_p.L653L	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	664					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CCCGATTCCTCCACCTGCAGT	0.607																																						ENST00000392518.4																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1990-1992)ctC>ctT		carnitine palmitoyltransferase 1C							102.0	81.0	88.0					19																	50215191		2203	4300	6503	SO:0001819	synonymous_variant	126129				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr19:50215191C>T	AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.1992C>T	19.37:g.50215191C>T						CPT1C_ENST00000598293.1_Silent_p.L664L|CPT1C_ENST00000323446.5_Silent_p.L664L|CPT1C_ENST00000405931.2_Silent_p.L653L|CPT1C_ENST00000354199.5_Intron	p.L664L	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)	17	2364	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	664					A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Silent	SNP	ENST00000392518.4	37	c.1992C>T	CCDS12779.1																																																																																				0.607	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	NM_152359		17	45	0	0	0	1	0	17	45				
KIAA0753	9851	broad.mit.edu	37	17	6515340	6515340	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:6515340C>T	ENST00000361413.3	-	8	1802	c.1444G>A	c.(1444-1446)Gag>Aag	p.E482K	KIAA0753_ENST00000542606.1_Missense_Mutation_p.E183K|KIAA0753_ENST00000589033.1_Intron|KIAA0753_ENST00000572370.1_Missense_Mutation_p.E183K	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	482						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		GCTAACACCTCGTCTTTGAAG	0.463																																						ENST00000361413.3																			0				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24						c.(1444-1446)Gag>Aag		KIAA0753							197.0	193.0	194.0					17																	6515340		1882	4106	5988	SO:0001583	missense	9851					centrosome		g.chr17:6515340C>T		CCDS42247.1	17p13.1	2014-04-04			ENSG00000198920	ENSG00000198920			29110	protein-coding gene	gene with protein product						24613305	Standard	NM_014804		Approved		uc002gde.4	Q2KHM9	OTTHUMG00000177928	ENST00000361413.3:c.1444G>A	17.37:g.6515340C>T	ENSP00000355250:p.Glu482Lys					KIAA0753_ENST00000589033.1_Intron|KIAA0753_ENST00000572370.1_Missense_Mutation_p.E183K|KIAA0753_ENST00000542606.1_Missense_Mutation_p.E183K	p.E482K	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN		COAD - Colon adenocarcinoma(228;0.157)	8	1802	-			482					A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Missense_Mutation	SNP	ENST00000361413.3	37	c.1444G>A	CCDS42247.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.355831	0.41700	.	.	ENSG00000198920	ENST00000361413;ENST00000542606	D;D	0.86562	-2.14;-2.14	4.28	2.29	0.28610	.	0.902703	0.09790	N	0.755527	T	0.82235	0.4993	L	0.60455	1.87	0.09310	N	0.999999	B	0.24132	0.098	B	0.17722	0.019	T	0.67252	-0.5717	10	0.27785	T	0.31	-4.6653	6.664	0.23031	0.0:0.7881:0.0:0.2119	.	482	Q2KHM9	K0753_HUMAN	K	482;183	ENSP00000355250:E482K;ENSP00000444634:E183K	ENSP00000355250:E482K	E	-	1	0	KIAA0753	6456064	0.001000	0.12720	0.002000	0.10522	0.048000	0.14542	0.502000	0.22594	0.767000	0.33267	-0.150000	0.13652	GAG		0.463	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439769.3	NM_014804		63	180	0	0	0	1	0	63	180				
UPF2	26019	broad.mit.edu	37	10	11990454	11990454	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr10:11990454C>G	ENST00000356352.2	-	15	3561	c.3088G>C	c.(3088-3090)Gaa>Caa	p.E1030Q	UPF2_ENST00000397053.2_Missense_Mutation_p.E1030Q|UPF2_ENST00000357604.5_Missense_Mutation_p.E1030Q			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	1030	Glu-rich.|Sufficient for interaction with EIF4A1 and EIF1.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				tcatcctcttcaagattttct	0.358																																						ENST00000356352.2																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56						c.(3088-3090)Gaa>Caa		UPF2 regulator of nonsense transcripts homolog (yeast)							122.0	109.0	114.0					10																	11990454		2203	4300	6503	SO:0001583	missense	26019				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding	g.chr10:11990454C>G	AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.3088G>C	10.37:g.11990454C>G	ENSP00000348708:p.Glu1030Gln					UPF2_ENST00000357604.5_Missense_Mutation_p.E1030Q|UPF2_ENST00000397053.2_Missense_Mutation_p.E1030Q	p.E1030Q			Q9HAU5	RENT2_HUMAN			15	3561	-		Renal(717;0.228)	1030			Glu-rich.|Sufficient for interaction with EIF4A1 and EIF1.		A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP	ENST00000356352.2	37	c.3088G>C	CCDS7086.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.490362	0.64074	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000397053	T;T;T	0.05786	3.39;3.39;3.39	5.47	5.47	0.80525	.	0.316020	0.34200	N	0.004177	T	0.16599	0.0399	L	0.38175	1.15	0.39208	D	0.963271	D	0.62365	0.991	D	0.74023	0.982	T	0.08289	-1.0729	10	0.22109	T	0.4	.	18.2595	0.90030	0.0:1.0:0.0:0.0	.	1030	Q9HAU5	RENT2_HUMAN	Q	1030	ENSP00000348708:E1030Q;ENSP00000350221:E1030Q;ENSP00000380244:E1030Q	ENSP00000348708:E1030Q	E	-	1	0	UPF2	12030460	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.735000	0.62051	2.728000	0.93425	0.585000	0.79938	GAA		0.358	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1			21	32	0	0	0	1	0	21	32				
KDM3A	55818	broad.mit.edu	37	2	86705816	86705816	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:86705816C>G	ENST00000409556.1	+	16	2639	c.2274C>G	c.(2272-2274)ttC>ttG	p.F758L	KDM3A_ENST00000542128.1_Missense_Mutation_p.F706L|KDM3A_ENST00000312912.5_Missense_Mutation_p.F758L|KDM3A_ENST00000409064.1_Missense_Mutation_p.F758L			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	758					androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						ACAGGCAATTCAAACTCTTTT	0.378																																					NSCLC(96;1150 1523 6936 46253 49736)	ENST00000409556.1																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						c.(2272-2274)ttC>ttG		lysine (K)-specific demethylase 3A							107.0	96.0	100.0					2																	86705816		2203	4300	6503	SO:0001583	missense	55818				androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:86705816C>G	AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"""Chromatin-modifying enzymes / K-demethylases"""	20815	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 2A"""	611512	"""jumonji domain containing 1"", ""jumonji domain containing 1A"""	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.2274C>G	2.37:g.86705816C>G	ENSP00000386660:p.Phe758Leu					KDM3A_ENST00000542128.1_Missense_Mutation_p.F706L|KDM3A_ENST00000409064.1_Missense_Mutation_p.F758L|KDM3A_ENST00000312912.5_Missense_Mutation_p.F758L	p.F758L			Q9Y4C1	KDM3A_HUMAN			16	2639	+			758					D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Missense_Mutation	SNP	ENST00000409556.1	37	c.2274C>G	CCDS1990.1	.	.	.	.	.	.	.	.	.	.	C	9.525	1.109285	0.20714	.	.	ENSG00000115548	ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000542128	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	5.73	3.75	0.43078	.	0.254953	0.35207	N	0.003374	T	0.22513	0.0543	N	0.04203	-0.255	0.33138	D	0.544035	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.17349	-1.0372	10	0.11182	T	0.66	.	4.1722	0.10334	0.1596:0.5957:0.155:0.0897	.	706;758	F5H070;Q9Y4C1	.;KDM3A_HUMAN	L	758;758;758;758;706	ENSP00000386660:F758L;ENSP00000323659:F758L;ENSP00000386516:F758L;ENSP00000438324:F706L	ENSP00000323659:F758L	F	+	3	2	KDM3A	86559327	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	0.901000	0.28445	1.330000	0.45394	0.655000	0.94253	TTC		0.378	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252522.2	NM_018433		11	51	0	0	0	1	0	11	51				
DNAH2	146754	broad.mit.edu	37	17	7736828	7736828	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:7736828C>G	ENST00000572933.1	+	86	14721	c.13261C>G	c.(13261-13263)Cta>Gta	p.L4421V	DNAH2_ENST00000389173.2_Missense_Mutation_p.L4421V			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4421					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GGGCACTGCTCTACTCATGAG	0.577																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(13261-13263)Cta>Gta		dynein, axonemal, heavy chain 2							85.0	77.0	80.0					17																	7736828		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7736828C>G	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.13261C>G	17.37:g.7736828C>G	ENSP00000458355:p.Leu4421Val					DNAH2_ENST00000389173.2_Missense_Mutation_p.L4421V	p.L4421V			Q9P225	DYH2_HUMAN			86	14721	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	4421					A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.13261C>G	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.797544	0.50208	.	.	ENSG00000183914	ENST00000389173	T	0.15256	2.44	4.52	3.37	0.38596	Dynein heavy chain (1);	0.000000	0.64402	D	0.000005	T	0.35307	0.0927	M	0.86097	2.795	0.80722	D	1	D	0.56035	0.974	P	0.59357	0.856	T	0.12993	-1.0526	10	0.66056	D	0.02	.	4.7035	0.12839	0.1959:0.6235:0.0:0.1806	.	4421	Q9P225	DYH2_HUMAN	V	4421	ENSP00000373825:L4421V	ENSP00000373825:L4421V	L	+	1	2	DNAH2	7677553	0.389000	0.25205	0.990000	0.47175	0.817000	0.46193	0.908000	0.28545	1.085000	0.41206	0.555000	0.69702	CTA		0.577	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		14	42	0	0	0	1	0	14	42				
KSR1	8844	broad.mit.edu	37	17	25935033	25935033	+	Silent	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:25935033C>T	ENST00000319524.6	+	16	2154	c.2154C>T	c.(2152-2154)atC>atT	p.I718I	KSR1_ENST00000398988.3_Silent_p.I581I|KSR1_ENST00000268763.6_Silent_p.I581I|KSR1_ENST00000509603.2_Silent_p.I696I|KSR1_ENST00000582410.1_5'Flank			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	718	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		AGGAGATCATCAAGGTGAGGG	0.597																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)	ENST00000398988.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28						c.(1741-1743)atC>atT		kinase suppressor of ras 1							24.0	26.0	26.0					17																	25935033		1998	4167	6165	SO:0001819	synonymous_variant	8844				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:25935033C>T	U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"""kinase suppressor of ras"""	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.2154C>T	17.37:g.25935033C>T						KSR1_ENST00000509603.2_Silent_p.I696I|KSR1_ENST00000319524.6_Silent_p.I718I|KSR1_ENST00000268763.6_Silent_p.I581I	p.I581I	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	17	2188	+	Lung NSC(42;0.00836)		716					F8WEA9|H7BYU0|Q13476	Silent	SNP	ENST00000319524.6	37	c.1743C>T		.	.	.	.	.	.	.	.	.	.	C	9.729	1.161701	0.21538	.	.	ENSG00000141068	ENST00000398988	.	.	.	5.6	2.52	0.30459	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.8829	0.35384	0.0:0.6783:0.0:0.3217	.	.	.	.	X	432	.	.	Q	+	1	0	KSR1	22959160	0.676000	0.27567	1.000000	0.80357	0.838000	0.47535	-0.204000	0.09425	0.319000	0.23209	0.561000	0.74099	CAA		0.597	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_014238		6	9	0	0	0	1	0	6	9				
PTPN14	5784	broad.mit.edu	37	1	214557145	214557145	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:214557145C>T	ENST00000366956.5	-	13	2247	c.2053G>A	c.(2053-2055)Gag>Aag	p.E685K	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	685					lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TGGGGGACCTCGTGGCTGCCT	0.642																																					Colon(92;557 1424 24372 34121 40073)	ENST00000366956.5																			0				NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(2053-2055)Gag>Aag		protein tyrosine phosphatase, non-receptor type 14							55.0	55.0	55.0					1																	214557145		2203	4300	6503	SO:0001583	missense	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214557145C>T	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.2053G>A	1.37:g.214557145C>T	ENSP00000355923:p.Glu685Lys					PTPN14_ENST00000543945.1_3'UTR	p.E685K	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	13	2247	-			685					Q5VSI0	Missense_Mutation	SNP	ENST00000366956.5	37	c.2053G>A	CCDS1514.1	.	.	.	.	.	.	.	.	.	.	C	8.247	0.808208	0.16467	.	.	ENSG00000152104	ENST00000366956	T	0.69175	-0.38	4.36	4.36	0.52297	.	0.506483	0.19940	N	0.102668	T	0.55226	0.1907	L	0.44542	1.39	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.49588	-0.8924	10	0.16896	T	0.51	.	11.522	0.50558	0.0:0.9122:0.0:0.0878	.	685	Q15678	PTN14_HUMAN	K	685	ENSP00000355923:E685K	ENSP00000355923:E685K	E	-	1	0	PTPN14	212623768	0.997000	0.39634	0.903000	0.35520	0.254000	0.26022	3.815000	0.55651	1.999000	0.58509	0.563000	0.77884	GAG		0.642	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		15	61	0	0	0	1	0	15	61				
MTBP	27085	broad.mit.edu	37	8	121500541	121500541	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr8:121500541G>A	ENST00000305949.1	+	12	1353	c.1308G>A	c.(1306-1308)aaG>aaA	p.K436K		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	MDM2 binding protein	436					cell cycle arrest (GO:0007050)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cell proliferation (GO:0008285)|protein localization to kinetochore (GO:0034501)|traversing start control point of mitotic cell cycle (GO:0007089)	chromatin (GO:0000785)|kinetochore (GO:0000776)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TTCATGGAAAGATGAAAACAA	0.358																																						ENST00000305949.1																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30						c.(1306-1308)aaG>aaA		Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa							88.0	80.0	83.0					8																	121500541		2203	4300	6503	SO:0001819	synonymous_variant	27085				cell cycle arrest			g.chr8:121500541G>A		CCDS6333.1	8q24.1-q24.2	2014-03-03	2014-03-03		ENSG00000172167	ENSG00000172167			7417	protein-coding gene	gene with protein product		605927	"""MDM2 (mouse double minute 2)-binding protein, 104kD"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa"""			10906133, 11060448	Standard	NM_022045		Approved		uc003ypc.2	Q96DY7	OTTHUMG00000165040	ENST00000305949.1:c.1308G>A	8.37:g.121500541G>A							p.K436K	NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		12	1353	+	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		436					B4DUR5|Q9HA89	Silent	SNP	ENST00000305949.1	37	c.1308G>A	CCDS6333.1																																																																																				0.358	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381530.1	NM_022045		8	27	0	0	0	1	0	8	27				
EDC4	23644	broad.mit.edu	37	16	67912285	67912285	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr16:67912285C>G	ENST00000358933.5	+	9	1266	c.1027C>G	c.(1027-1029)Cat>Gat	p.H343D	AC040162.1_ENST00000408599.1_RNA|EDC4_ENST00000574770.1_3'UTR	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	343					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GTGGAAACCTCATGATGGGCG	0.617																																						ENST00000358933.5																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41						c.(1027-1029)Cat>Gat		enhancer of mRNA decapping 4							90.0	92.0	91.0					16																	67912285		2198	4300	6498	SO:0001583	missense	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67912285C>G	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.1027C>G	16.37:g.67912285C>G	ENSP00000351811:p.His343Asp					EDC4_ENST00000574770.1_3'UTR	p.H343D	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	9	1266	+		Ovarian(137;0.0563)	343					A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Missense_Mutation	SNP	ENST00000358933.5	37	c.1027C>G	CCDS10849.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.364306	0.82463	.	.	ENSG00000038358	ENST00000358933;ENST00000536072	T	0.11385	2.78	5.6	5.6	0.85130	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.38026	0.1025	M	0.80332	2.49	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.78314	0.991;0.987	T	0.10451	-1.0629	10	0.56958	D	0.05	-14.4116	19.2127	0.93763	0.0:1.0:0.0:0.0	.	275;343	B7Z7V8;Q6P2E9	.;EDC4_HUMAN	D	343;275	ENSP00000351811:H343D	ENSP00000351811:H343D	H	+	1	0	EDC4	66469786	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.783000	0.85696	2.654000	0.90174	0.561000	0.74099	CAT		0.617	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		34	118	0	0	0	1	0	34	118				
CCT5	22948	broad.mit.edu	37	5	10263367	10263367	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:10263367G>A	ENST00000280326.4	+	10	1859	c.1439G>A	c.(1438-1440)aGa>aAa	p.R480K	CCT5_ENST00000503026.1_Missense_Mutation_p.R459K|CCT5_ENST00000515390.1_Missense_Mutation_p.R425K|CTD-2256P15.4_ENST00000606194.1_RNA|CCT5_ENST00000515676.1_Missense_Mutation_p.R442K|CCT5_ENST00000506600.1_Missense_Mutation_p.R387K	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	480					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|response to virus (GO:0009615)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleolus (GO:0005730)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|G-protein beta-subunit binding (GO:0031681)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						GTCCGAGCCAGACAGGTGAAG	0.577																																						ENST00000280326.4																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						c.(1438-1440)aGa>aAa		chaperonin containing TCP1, subunit 5 (epsilon)							95.0	82.0	86.0					5																	10263367		2203	4300	6503	SO:0001583	missense	22948				'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding	g.chr5:10263367G>A	D43950	CCDS3877.1	5p15.2	2014-09-17			ENSG00000150753	ENSG00000150753		"""Heat Shock Proteins / Chaperonins"""	1618	protein-coding gene	gene with protein product		610150					Standard	NM_012073		Approved	KIAA0098	uc003jeq.3	P48643	OTTHUMG00000131042	ENST00000280326.4:c.1439G>A	5.37:g.10263367G>A	ENSP00000280326:p.Arg480Lys					CCT5_ENST00000506600.1_Missense_Mutation_p.R387K|CCT5_ENST00000515390.1_Missense_Mutation_p.R425K|CCT5_ENST00000515676.1_Missense_Mutation_p.R442K|CCT5_ENST00000503026.1_Missense_Mutation_p.R459K	p.R480K	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN			10	1859	+			480					A8JZY8|A8K2X8|B4DYD8	Missense_Mutation	SNP	ENST00000280326.4	37	c.1439G>A	CCDS3877.1	.	.	.	.	.	.	.	.	.	.	G	11.11	1.543330	0.27563	.	.	ENSG00000150753	ENST00000280326;ENST00000503026;ENST00000515390;ENST00000440011;ENST00000515676;ENST00000506600	T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1	5.63	3.85	0.44370	.	0.137205	0.64402	N	0.000006	T	0.53899	0.1825	N	0.11724	0.165	0.47698	D	0.999495	B;B;B;B	0.06786	0.0;0.001;0.0;0.0	B;B;B;B	0.06405	0.001;0.002;0.001;0.001	T	0.46484	-0.9188	10	0.05351	T	0.99	-12.5916	9.124	0.36803	0.2227:0.0:0.7773:0.0	.	387;425;480;480	B4DYD8;E7ENZ3;A8K2X8;P48643	.;.;.;TCPE_HUMAN	K	480;459;425;453;442;387	ENSP00000280326:R480K;ENSP00000423318:R459K;ENSP00000426923:R425K;ENSP00000427297:R442K;ENSP00000423052:R387K	ENSP00000280326:R480K	R	+	2	0	CCT5	10316367	0.550000	0.26489	0.994000	0.49952	0.909000	0.53808	1.380000	0.34351	0.747000	0.32809	0.558000	0.71614	AGA		0.577	CCT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253688.2			20	45	0	0	0	1	0	20	45				
TCF7L2	6934	broad.mit.edu	37	10	114925636	114925636	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr10:114925636A>G	ENST00000355995.4	+	15	2272	c.1765A>G	c.(1765-1767)Att>Gtt	p.I589V	TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000543371.1_Missense_Mutation_p.I572V|TCF7L2_ENST00000355717.4_3'UTR|TCF7L2_ENST00000542695.1_Missense_Mutation_p.I305V|TCF7L2_ENST00000369386.1_3'UTR|TCF7L2_ENST00000545257.1_Missense_Mutation_p.I589V|TCF7L2_ENST00000536810.1_Missense_Mutation_p.I572V|TCF7L2_ENST00000538897.1_3'UTR|TCF7L2_ENST00000369397.4_Missense_Mutation_p.I566V			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	589					blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		CTCCTCATCAATTGCACAGCC	0.642			T	VTI1A	colorectal																																	ENST00000545257.1				Dom	yes		10	10q25.3	6934	T	transcription factor 7-like 2			E	VTI1A		colorectal	VTI1A/TCF7L2(8)	0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41						c.(1765-1767)Att>Gtt		transcription factor 7-like 2 (T-cell specific, HMG-box)							38.0	46.0	43.0					10																	114925636		2203	4300	6503	SO:0001583	missense	6934				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr10:114925636A>G	X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.1765A>G	10.37:g.114925636A>G	ENSP00000348274:p.Ile589Val					TCF7L2_ENST00000543371.1_Missense_Mutation_p.I572V|TCF7L2_ENST00000542695.1_Missense_Mutation_p.I305V|TCF7L2_ENST00000369397.4_Missense_Mutation_p.I566V|TCF7L2_ENST00000355717.4_3'UTR|TCF7L2_ENST00000538897.1_3'UTR|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000369386.1_3'UTR|TCF7L2_ENST00000355995.4_Missense_Mutation_p.I589V|TCF7L2_ENST00000536810.1_Missense_Mutation_p.I572V	p.I589V			Q9NQB0	TF7L2_HUMAN		Epithelial(162;0.00554)|all cancers(201;0.02)	15	2272	+		Breast(234;0.058)|Colorectal(252;0.0615)	589					B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Missense_Mutation	SNP	ENST00000355995.4	37	c.1765A>G		.	.	.	.	.	.	.	.	.	.	A	0.005	-2.136996	0.00335	.	.	ENSG00000148737	ENST00000355995;ENST00000545257;ENST00000543371;ENST00000536810;ENST00000369397;ENST00000542695	D;D;D;D;D;D	0.98345	-4.86;-4.86;-4.86;-4.88;-4.86;-4.87	4.95	-0.401	0.12407	.	0.775165	0.11411	N	0.566748	D	0.90933	0.7150	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.04013	0.0;0.0;0.001;0.0;0.0;0.0;0.0	T	0.82784	-0.0286	10	0.02654	T	1	-1.4644	5.2532	0.15532	0.4247:0.3068:0.207:0.0615	.	589;460;504;549;549;572;566	Q9NQB0;C6ZRK4;C6ZRJ6;C6ZRJ8;C6ZRK5;Q9NQB0-7;Q6FHW4	TF7L2_HUMAN;.;.;.;.;.;.	V	589;589;572;572;566;305	ENSP00000348274:I589V;ENSP00000440547:I589V;ENSP00000444972:I572V;ENSP00000446238:I572V;ENSP00000358404:I566V;ENSP00000443883:I305V	ENSP00000348274:I589V	I	+	1	0	TCF7L2	114915626	0.013000	0.17824	0.001000	0.08648	0.115000	0.19883	0.139000	0.16036	-0.709000	0.05008	-2.748000	0.00125	ATT		0.642	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756		29	83	0	0	0	1	0	29	83				
TMCO6	55374	broad.mit.edu	37	5	140021368	140021368	+	Intron	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:140021368C>T	ENST00000394671.3	+	3	415				TMCO6_ENST00000537378.1_Intron|NDUFA2_ENST00000510680.1_Intron|TMCO6_ENST00000511410.1_Missense_Mutation_p.S106L|TMCO6_ENST00000252100.6_Intron	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6						protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCATCCGGTCAGTGTGGATG	0.597																																						ENST00000511410.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9						c.(316-318)tCa>tTa		transmembrane and coiled-coil domains 6							38.0	41.0	40.0					5																	140021368		2081	4222	6303	SO:0001627	intron_variant	55374				protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity	g.chr5:140021368C>T	BC001910	CCDS4233.2, CCDS75320.1	5q31.3	2008-11-06			ENSG00000113119	ENSG00000113119			28814	protein-coding gene	gene with protein product						12477932	Standard	XM_005268476		Approved	FLJ39769, PRO1580	uc003lgl.3	Q96DC7	OTTHUMG00000129497	ENST00000394671.3:c.314+3C>T	5.37:g.140021368C>T						TMCO6_ENST00000252100.6_Intron|TMCO6_ENST00000394671.3_Intron|TMCO6_ENST00000537378.1_Intron|NDUFA2_ENST00000510680.1_Intron	p.S106L			Q96DC7	TMCO6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	392	+			0					Q9BUU0|Q9P198	Missense_Mutation	SNP	ENST00000394671.3	37	c.317C>T	CCDS4233.2	.	.	.	.	.	.	.	.	.	.	C	11.45	1.642169	0.29157	.	.	ENSG00000113119	ENST00000511410	.	.	.	5.4	1.49	0.22878	.	.	.	.	.	T	0.38134	0.1029	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.10450	0.005	T	0.07731	-1.0757	6	.	.	.	.	7.183	0.25784	0.0:0.4494:0.3953:0.1553	.	106	E7ESN7	.	L	106	.	.	S	+	2	0	TMCO6	140001552	0.217000	0.23597	0.958000	0.39756	0.203000	0.24098	-0.409000	0.07160	0.236000	0.21180	-0.244000	0.11960	TCA		0.597	TMCO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251666.2	NM_018502		18	43	0	0	0	1	0	18	43				
LMNB2	84823	broad.mit.edu	37	19	2432468	2432468	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:2432468C>G	ENST00000582871.1	-	9	1562	c.1476G>C	c.(1474-1476)gaG>gaC	p.E492D	LMNB2_ENST00000325327.3_Missense_Mutation_p.E512D|LMNB2_ENST00000475819.1_5'Flank	NM_032737.3	NP_116126.3	Q03252	LMNB2_HUMAN	lamin B2	492	LTD.|Tail.					lamin filament (GO:0005638)|nuclear inner membrane (GO:0005637)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTAGGCGATCTCCTCCCCCT	0.627																																						ENST00000325327.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(1534-1536)gaG>gaC		lamin B2							314.0	232.0	260.0					19																	2432468		2203	4300	6503	SO:0001583	missense	84823					nuclear inner membrane	structural molecule activity	g.chr19:2432468C>G	M94362	CCDS12090.1, CCDS12090.2	19p13.3	2013-01-16			ENSG00000176619	ENSG00000176619		"""Intermediate filaments type V, lamins"""	6638	protein-coding gene	gene with protein product		150341		LMN2		1630457	Standard	NM_032737		Approved		uc002lvy.4	Q03252	OTTHUMG00000150626	ENST00000582871.1:c.1476G>C	19.37:g.2432468C>G	ENSP00000462730:p.Glu492Asp					LMNB2_ENST00000582871.1_Missense_Mutation_p.E492D	p.E512D			Q03252	LMNB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1598	-		Hepatocellular(1079;0.137)	492			Tail.		O75292|Q14734|Q96DF6	Missense_Mutation	SNP	ENST00000582871.1	37	c.1536G>C		.	.	.	.	.	.	.	.	.	.	C	8.462	0.855541	0.17106	.	.	ENSG00000176619	ENST00000325327	.	.	.	4.11	-1.47	0.08772	Intermediate filament, C-terminal (1);	0.052643	0.64402	N	0.000001	T	0.35307	0.0927	L	0.34521	1.04	0.51482	D	0.999927	B	0.02656	0.0	B	0.12837	0.008	T	0.03651	-1.1016	9	0.20046	T	0.44	.	4.243	0.10658	0.0:0.2444:0.2012:0.5544	.	492	Q03252	LMNB2_HUMAN	D	492	.	ENSP00000327054:E492D	E	-	3	2	LMNB2	2383468	0.394000	0.25246	0.741000	0.31004	0.551000	0.35334	-0.088000	0.11198	-0.083000	0.12618	-0.266000	0.10368	GAG		0.627	LMNB2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032737		31	88	0	0	0	1	0	31	88				
MUC6	4588	broad.mit.edu	37	11	1017057	1017057	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:1017057G>C	ENST00000421673.2	-	31	5794	c.5744C>G	c.(5743-5745)tCt>tGt	p.S1915C		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1915	Approximate repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TAGGGATGTAGAAGTTTTGGC	0.547																																						ENST00000421673.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(5743-5745)tCt>tGt		mucin 6, oligomeric mucus/gel-forming							710.0	718.0	715.0					11																	1017057		2200	4284	6484	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1017057G>C	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5744C>G	11.37:g.1017057G>C	ENSP00000406861:p.Ser1915Cys						p.S1915C	NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	31	5794	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1915			Approximate repeats.|Thr-rich.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.5744C>G	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.151068	0.38021	.	.	ENSG00000184956	ENST00000421673	T	0.26810	1.71	2.46	2.46	0.29980	.	.	.	.	.	T	0.43897	0.1268	M	0.61703	1.905	0.09310	N	1	D	0.89917	1.0	D	0.65987	0.94	T	0.12837	-1.0532	9	0.56958	D	0.05	.	11.0274	0.47753	0.0:0.0:1.0:0.0	.	1915	Q6W4X9	MUC6_HUMAN	C	1915	ENSP00000406861:S1915C	ENSP00000406861:S1915C	S	-	2	0	MUC6	1007057	0.045000	0.20229	0.002000	0.10522	0.005000	0.04900	2.612000	0.46343	1.716000	0.51395	0.313000	0.20887	TCT		0.547	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		94	945	0	0	0	1	0	94	945				
OR4S2	219431	broad.mit.edu	37	11	55418836	55418836	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:55418836C>A	ENST00000312422.2	+	1	457	c.457C>A	c.(457-459)Cac>Aac	p.H153N		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TGGGTTCTTACACTCCATTAT	0.433																																						ENST00000312422.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(457-459)Cac>Aac		olfactory receptor, family 4, subfamily S, member 2							216.0	172.0	188.0					11																	55418836		2181	4039	6220	SO:0001583	missense	219431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55418836C>A	BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"""GPCR / Class A : Olfactory receptors"""	15183	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily S, member 2 pseudogene"""	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.457C>A	11.37:g.55418836C>A	ENSP00000310337:p.His153Asn						p.H153N	NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN			1	457	+		all_epithelial(135;0.0748)	153					Q6IF72	Missense_Mutation	SNP	ENST00000312422.2	37	c.457C>A	CCDS31505.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.878810	0.51801	.	.	ENSG00000174982	ENST00000312422	T	0.37058	1.22	5.35	4.38	0.52667	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000034	T	0.46268	0.1384	L	0.45352	1.415	0.09310	N	1	D	0.76494	0.999	D	0.69824	0.966	T	0.28776	-1.0033	10	0.87932	D	0	.	7.3358	0.26609	0.1692:0.7449:0.0:0.086	.	153	Q8NH73	OR4S2_HUMAN	N	153	ENSP00000310337:H153N	ENSP00000310337:H153N	H	+	1	0	OR4S2	55175412	0.000000	0.05858	0.907000	0.35723	0.995000	0.86356	-1.389000	0.02530	2.508000	0.84585	0.542000	0.68232	CAC		0.433	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	NM_001004059		80	171	1	0	9.59377e-39	1	1.0572e-38	80	171				
C6orf106	64771	broad.mit.edu	37	6	34574664	34574664	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:34574664G>A	ENST00000374023.3	-	4	772	c.529C>T	c.(529-531)Ctc>Ttc	p.L177F	C6orf106_ENST00000374021.1_Missense_Mutation_p.L103F|C6orf106_ENST00000374026.3_Missense_Mutation_p.L111F	NM_024294.2	NP_077270.1	Q9H6K1	CF106_HUMAN	chromosome 6 open reading frame 106	177										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10						TCCACACTGAGAATCACCCAG	0.453																																						ENST00000374023.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10						c.(529-531)Ctc>Ttc		chromosome 6 open reading frame 106							61.0	55.0	57.0					6																	34574664		2203	4300	6503	SO:0001583	missense	64771							g.chr6:34574664G>A	AF052106	CCDS4795.1, CCDS4796.1	6p21.31	2012-01-27			ENSG00000196821	ENSG00000196821			21215	protein-coding gene	gene with protein product		612217					Standard	XM_005249298		Approved	FLJ22195, dJ391O22.4	uc003ojr.2	Q9H6K1	OTTHUMG00000014553	ENST00000374023.3:c.529C>T	6.37:g.34574664G>A	ENSP00000363135:p.Leu177Phe					C6orf106_ENST00000374026.3_Missense_Mutation_p.L111F|C6orf106_ENST00000374021.1_Missense_Mutation_p.L103F	p.L177F	NM_024294.2	NP_077270.1	Q9H6K1	CF106_HUMAN			4	772	-			177					B2R8K7|Q5VV77|Q96MG5|Q9BUR9	Missense_Mutation	SNP	ENST00000374023.3	37	c.529C>T	CCDS4796.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743138	0.69418	.	.	ENSG00000196821	ENST00000374023;ENST00000374026;ENST00000374021	.	.	.	5.37	5.37	0.77165	.	0.064420	0.64402	D	0.000005	T	0.80003	0.4544	M	0.77820	2.39	0.58432	D	0.999999	D;D	0.76494	0.999;0.992	D;P	0.69479	0.964;0.803	T	0.81867	-0.0735	9	0.87932	D	0	-10.2147	19.4826	0.95016	0.0:0.0:1.0:0.0	.	111;177	Q9H6K1-2;Q9H6K1	.;CF106_HUMAN	F	177;111;103	.	ENSP00000363133:L103F	L	-	1	0	C6orf106	34682642	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.953000	0.56699	2.678000	0.91216	0.555000	0.69702	CTC		0.453	C6orf106-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040251.1	NM_022758		35	35	0	0	0	1	0	35	35				
HOXC6	3223	broad.mit.edu	37	12	54422559	54422559	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:54422559C>T	ENST00000243108.4	+	1	418	c.254C>T	c.(253-255)tCa>tTa	p.S85L	HOXC6_ENST00000394331.3_Missense_Mutation_p.S3L|RP11-834C11.14_ENST00000512206.1_RNA|HOXC4_ENST00000303406.4_Intron|RP11-834C11.12_ENST00000513209.1_Intron	NM_004503.3	NP_004494.1	P09630	HXC6_HUMAN	homeobox C6	85					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system development (GO:0048706)|multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GACATGCTCTCAAACTGCAGA	0.498																																						ENST00000394331.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(7-9)tCa>tTa		homeobox C6							130.0	122.0	125.0					12																	54422559		2203	4300	6503	SO:0001583	missense	3223				regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:54422559C>T		CCDS8871.1, CCDS41792.1	12q13.13	2011-06-20	2005-12-22		ENSG00000197757	ENSG00000197757		"""Homeoboxes / ANTP class : HOXL subclass"""	5128	protein-coding gene	gene with protein product		142972	"""homeo box C6"""	HOX3C, HOX3		1973146, 1358459	Standard	NM_153693		Approved		uc001sev.3	P09630	OTTHUMG00000160027	ENST00000243108.4:c.254C>T	12.37:g.54422559C>T	ENSP00000243108:p.Ser85Leu					HOXC4_ENST00000303406.4_Intron|HOXC5_ENST00000512206.1_Intron|HOXC6_ENST00000243108.4_Missense_Mutation_p.S85L	p.S3L	NM_153693.3	NP_710160.1	P09630	HXC6_HUMAN			2	1718	+			85					B2RBV2|Q6DK09	Missense_Mutation	SNP	ENST00000243108.4	37	c.8C>T	CCDS8871.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.588786	0.46110	.	.	ENSG00000197757	ENST00000504315;ENST00000509328;ENST00000394331;ENST00000243108	D;D	0.92911	-3.13;-3.09	5.65	4.76	0.60689	.	0.122857	0.56097	D	0.000027	D	0.84727	0.5536	L	0.28115	0.83	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.78612	-0.2136	10	0.08381	T	0.77	.	13.5093	0.61502	0.0:0.9244:0.0:0.0756	.	85	P09630	HXC6_HUMAN	L	3;3;3;85	ENSP00000377864:S3L;ENSP00000243108:S85L	ENSP00000243108:S85L	S	+	2	0	HOXC6	52708826	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.298000	0.78815	1.616000	0.50265	0.655000	0.94253	TCA		0.498	HOXC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358943.2			55	151	0	0	0	1	0	55	151				
HLA-A	3105	broad.mit.edu	37	6	29912176	29912176	+	Splice_Site	SNP	T	T	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:29912176T>C	ENST00000396634.1	+	6	1236		c.e6+2		HLA-A_ENST00000376809.5_Splice_Site|HLA-A_ENST00000376802.2_Splice_Site|HLA-A_ENST00000376806.5_Splice_Site			P16189	1A31_HUMAN	major histocompatibility complex, class I, A						antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGAGATGGGGTAAGGAGGGAG	0.597									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												ENST00000396634.1																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						c.e6+2		major histocompatibility complex, class I, A							61.0	57.0	58.0					6																	29912176		1511	2709	4220	SO:0001630	splice_region_variant	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29912176T>C	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.895+2T>C	6.37:g.29912176T>C		Multiple Myeloma(9;0.094)				HLA-A_ENST00000376802.2_Splice_Site|HLA-A_ENST00000376806.5_Splice_Site|HLA-A_ENST00000376809.5_Splice_Site				P30443	1A01_HUMAN			6	1236	+								O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Splice_Site	SNP	ENST00000396634.1	37		CCDS34373.1	.	.	.	.	.	.	.	.	.	.	t	12.37	1.918081	0.33815	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000536480;ENST00000376809;ENST00000376802	.	.	.	3.69	3.69	0.42338	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.9505	0.35785	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	HLA-A	30020155	1.000000	0.71417	0.981000	0.43875	0.555000	0.35460	3.461000	0.53035	1.682000	0.51000	0.397000	0.26171	.		0.597	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116	Intron	38	32	0	0	0	1	0	38	32				
MGAT4B	11282	broad.mit.edu	37	5	179225171	179225171	+	Silent	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:179225171C>G	ENST00000292591.7	-	14	1967	c.1617G>C	c.(1615-1617)ctG>ctC	p.L539L	MGAT4B_ENST00000337755.5_Silent_p.L554L|MIR1229_ENST00000408467.1_RNA|MGAT4B_ENST00000521305.1_5'Flank	NM_014275.4	NP_055090.1	Q9UQ53	MGT4B_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B	539					cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCACCTCGCTCAGAATCACCC	0.677																																					GBM(13;414 434 4098 22176 23230)	ENST00000337755.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13						c.(1660-1662)ctG>ctC		mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B							20.0	21.0	21.0					5																	179225171		2186	4297	6483	SO:0001819	synonymous_variant	11282				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr5:179225171C>G	AB000624	CCDS4448.1, CCDS4449.1	5q35	2013-02-25	2005-11-16		ENSG00000161013	ENSG00000161013	2.4.1.145	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7048	protein-coding gene	gene with protein product		604561	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme B"""			10372966	Standard	NM_014275		Approved	GnT-Ivb	uc003mks.3	Q9UQ53	OTTHUMG00000130912	ENST00000292591.7:c.1617G>C	5.37:g.179225171C>G						MGAT4B_ENST00000292591.7_Silent_p.L539L	p.L554L	NM_054013.3	NP_463459.1	Q9UQ53	MGT4B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		13	2548	-	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	539					A8MPR0|Q86TF1|Q96GH4|Q9NSK6	Silent	SNP	ENST00000292591.7	37	c.1662G>C	CCDS4448.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.851|8.851	0.944668|0.944668	0.18356|0.18356	.|.	.|.	ENSG00000161013|ENSG00000161013	ENST00000518778;ENST00000520875|ENST00000520969;ENST00000518980	.|.	.|.	.|.	5.04|5.04	4.17|4.17	0.49024|0.49024	.|.	.|.	.|.	.|.	.|.	T|.	0.60405|.	0.2266|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.57894|.	-0.7732|.	4|.	.|.	.|.	.|.	-12.7499|-12.7499	10.0847|10.0847	0.42410|0.42410	0.0:0.8453:0.0:0.1547|0.0:0.8453:0.0:0.1547	.|.	.|.	.|.	.|.	Q|S	364;320|231;285	.|.	.|.	E|X	-|-	1|2	0|2	MGAT4B|MGAT4B	179157777|179157777	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.138000|0.138000	0.21146|0.21146	2.311000|2.311000	0.43717|0.43717	1.260000|1.260000	0.44134|0.44134	0.561000|0.561000	0.74099|0.74099	GAG|TGA		0.677	MGAT4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253503.3	NM_014275		3	11	0	0	0	1	0	3	11				
TNFAIP3	7128	broad.mit.edu	37	6	138201248	138201248	+	Silent	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:138201248C>T	ENST00000237289.4	+	8	2013	c.1947C>T	c.(1945-1947)tcC>tcT	p.S649S		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	649	Interaction with TNIP1. {ECO:0000250}.|Required for proteosomal degradation of UBE2N and UBE2D3, TRAF6 deubiquitination, and TAX1BP1 interaction with UBE2N. {ECO:0000250}.|Sufficient for inhibitory activity of TNF-induced NF-kappa-B activity. {ECO:0000250}.				apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		CCACAGCGTCCAGGTTCCAGA	0.517			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""																																GBM(130;153 1739 22295 28918 47987)	ENST00000237289.4				Rec	yes		6	6q23	7128	"""D, N, F"""	"""tumor necrosis factor, alpha-induced protein 3"""			L			"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""		25	Whole gene deletion(25)	p.0?(25)	haematopoietic_and_lymphoid_tissue(25)	breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225						c.(1945-1947)tcC>tcT		tumor necrosis factor, alpha-induced protein 3							94.0	80.0	85.0					6																	138201248		2203	4300	6503	SO:0001819	synonymous_variant	7128				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr6:138201248C>T	M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"""OTU domain containing"""	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.1947C>T	6.37:g.138201248C>T							p.S649S	NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN		GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)	8	2013	+	Breast(32;0.135)|Colorectal(23;0.24)		649			Interaction with NAF1 (By similarity).		B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Silent	SNP	ENST00000237289.4	37	c.1947C>T	CCDS5187.1	.	.	.	.	.	.	.	.	.	.	C	10.74	1.436033	0.25813	.	.	ENSG00000118503	ENST00000544646	.	.	.	6.08	4.05	0.47172	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.9663	8.4287	0.32744	0.0:0.7571:0.1459:0.097	.	.	.	.	X	649	.	ENSP00000442207:Q649X	Q	+	1	0	TNFAIP3	138242941	0.996000	0.38824	0.992000	0.48379	0.967000	0.64934	0.513000	0.22770	0.681000	0.31386	0.655000	0.94253	CAG		0.517	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042414.1			21	56	0	0	0	1	0	21	56				
CA4	762	broad.mit.edu	37	17	58227442	58227442	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:58227442C>T	ENST00000300900.4	+	1	146	c.47C>T	c.(46-48)tCg>tTg	p.S16L		NM_000717.3	NP_000708.1	P22748	CAH4_HUMAN	carbonic anhydrase IV	16					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|organ development (GO:0048513)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)|transport vesicle membrane (GO:0030658)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Topiramate(DB00273)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	GCGCGGCCATCGGCCAGTGCA	0.761																																						ENST00000300900.4																			0				kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9						c.(46-48)tCg>tTg		carbonic anhydrase IV	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)						9.0	12.0	11.0					17																	58227442		2155	4193	6348	SO:0001583	missense	762				bicarbonate transport|one-carbon metabolic process	anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane	carbonate dehydratase activity|protein binding|zinc ion binding	g.chr17:58227442C>T	L10955	CCDS11624.1	17q23.1	2012-08-21			ENSG00000167434	ENSG00000167434	4.2.1.1	"""Carbonic anhydrases"""	1375	protein-coding gene	gene with protein product		114760	"""retinitis pigmentosa 17 (autosomal dominant)"""	RP17		8325641	Standard	NM_000717		Approved	CAIV, Car4	uc002iym.4	P22748		ENST00000300900.4:c.47C>T	17.37:g.58227442C>T	ENSP00000300900:p.Ser16Leu						p.S16L	NM_000717.3	NP_000708.1	P22748	CAH4_HUMAN	Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		1	146	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		16					B4DQA4|Q6FHI7	Missense_Mutation	SNP	ENST00000300900.4	37	c.47C>T	CCDS11624.1	.	.	.	.	.	.	.	.	.	.	C	4.857	0.159355	0.09236	.	.	ENSG00000167434	ENST00000300900	T	0.69926	-0.44	2.71	-5.42	0.02640	.	3.844720	0.00942	N	0.002855	T	0.47637	0.1456	L	0.28740	0.885	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.13791	-1.0496	10	0.27785	T	0.31	.	2.0789	0.03631	0.1668:0.4575:0.168:0.2078	.	16	P22748	CAH4_HUMAN	L	16	ENSP00000300900:S16L	ENSP00000300900:S16L	S	+	2	0	CA4	55582224	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-2.553000	0.00927	-1.384000	0.02103	0.462000	0.41574	TCG		0.761	CA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449189.1	NM_000717		9	19	0	0	0	1	0	9	19				
C10orf55	414236	broad.mit.edu	37	10	75673112	75673112	+	Intron	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr10:75673112G>A	ENST00000409178.1	-	3	268				PLAU_ENST00000372764.3_Missense_Mutation_p.E145K|PLAU_ENST00000372762.4_Missense_Mutation_p.E109K|C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000446342.1_Missense_Mutation_p.E128K|PLAU_ENST00000494287.1_3'UTR	NM_001001791.2	NP_001001791.2	Q5SWW7	CJ055_HUMAN	chromosome 10 open reading frame 55											endometrium(1)	1	Prostate(51;0.0112)					GCTTGTCCAAGAGTGCATGGT	0.537																																						ENST00000446342.1																			0				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16						c.(382-384)Gag>Aag		plasminogen activator, urokinase	Amiloride(DB00594)|Urokinase(DB00013)						131.0	123.0	125.0					10																	75673112		2203	4300	6503	SO:0001627	intron_variant	5328				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr10:75673112G>A		CCDS53541.1	10q22.2	2012-05-24			ENSG00000222047	ENSG00000222047			31008	protein-coding gene	gene with protein product							Standard	NM_001001791		Approved	bA417O11.3	uc001jvz.2	Q5SWW7	OTTHUMG00000018496	ENST00000409178.1:c.73-279C>T	10.37:g.75673112G>A						C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000372764.3_Missense_Mutation_p.E145K|C10orf55_ENST00000409178.1_Intron|PLAU_ENST00000494287.1_3'UTR|PLAU_ENST00000372762.4_Missense_Mutation_p.E109K	p.E128K	NM_001145031.1	NP_001138503.1	P00749	UROK_HUMAN			5	864	+	Prostate(51;0.0112)		145			Kringle.		Q3KRG4|Q8NAK4	Missense_Mutation	SNP	ENST00000409178.1	37	c.382G>A	CCDS53541.1	.	.	.	.	.	.	.	.	.	.	G	12.21	1.870112	0.33069	.	.	ENSG00000122861	ENST00000446342;ENST00000372764;ENST00000372762;ENST00000372761	T;T;T	0.62364	0.03;0.03;0.03	5.47	1.48	0.22813	Kringle (4);Kringle-like fold (1);	0.861208	0.10759	N	0.637361	T	0.59101	0.2169	M	0.83953	2.67	0.58432	D	0.999999	B;B;B;B	0.22003	0.002;0.011;0.063;0.012	B;B;B;B	0.23018	0.012;0.021;0.043;0.035	T	0.52388	-0.8582	10	0.36615	T	0.2	.	2.3413	0.04261	0.1682:0.1511:0.5245:0.1562	.	128;109;145;145	E7ET40;E7ESM2;B2R7F2;P00749	.;.;.;UROK_HUMAN	K	128;145;109;109	ENSP00000388474:E128K;ENSP00000361850:E145K;ENSP00000361848:E109K	ENSP00000361847:E109K	E	+	1	0	PLAU	75343118	0.879000	0.30193	0.960000	0.40013	0.420000	0.31355	1.098000	0.31000	0.012000	0.14892	0.650000	0.86243	GAG		0.537	C10orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048746.1	NM_001001791		32	96	0	0	0	1	0	32	96				
SPOCK1	6695	broad.mit.edu	37	5	136834061	136834061	+	Splice_Site	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:136834061C>T	ENST00000394945.1	-	2	356		c.e2+1		SPOCK1_ENST00000282223.7_Splice_Site	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1						cell adhesion (GO:0007155)|central nervous system neuron differentiation (GO:0021953)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron projection development (GO:0010977)|nervous system development (GO:0007399)|neurogenesis (GO:0022008)|neuron migration (GO:0001764)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|postsynaptic density (GO:0014069)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasm (GO:0016528)	calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCGGTACTCACGTCTCGAAAG	0.647																																						ENST00000394945.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18						c.e2+1		sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1							18.0	18.0	18.0					5																	136834061		2203	4300	6503	SO:0001630	splice_region_variant	6695				cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding	g.chr5:136834061C>T	AF231124	CCDS4191.1	5q31.2	2008-02-05	2005-11-04	2005-11-04	ENSG00000152377	ENSG00000152377			11251	protein-coding gene	gene with protein product		602264	"""sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican)"""	TIC1, SPOCK		9545645	Standard	NM_004598		Approved	testican-1	uc003lbp.3	Q08629	OTTHUMG00000129157	ENST00000394945.1:c.186+1G>A	5.37:g.136834061C>T						SPOCK1_ENST00000282223.7_Splice_Site		NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	356	-								B3KSW3|Q59EW0|Q8N630|Q9UCL8	Splice_Site	SNP	ENST00000394945.1	37		CCDS4191.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.023910	0.54683	.	.	ENSG00000152377	ENST00000394945;ENST00000282223;ENST00000505690	.	.	.	3.93	3.93	0.45458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5033	0.61469	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SPOCK1	136861960	1.000000	0.71417	1.000000	0.80357	0.608000	0.37181	5.122000	0.64697	1.924000	0.55735	0.561000	0.74099	.		0.647	SPOCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251222.1	NM_004598	Intron	6	17	0	0	0	1	0	6	17				
MDN1	23195	broad.mit.edu	37	6	90403841	90403841	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:90403841C>T	ENST00000369393.3	-	62	9948	c.9833G>A	c.(9832-9834)aGa>aAa	p.R3278K	MDN1_ENST00000428876.1_Missense_Mutation_p.R3278K			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3278					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTCCAGGTCTCTTCCAGTCTG	0.468																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(9832-9834)aGa>aAa		MDN1, midasin homolog (yeast)							171.0	134.0	147.0					6																	90403841		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90403841C>T	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.9833G>A	6.37:g.90403841C>T	ENSP00000358400:p.Arg3278Lys					MDN1_ENST00000428876.1_Missense_Mutation_p.R3278K	p.R3278K			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	62	9948	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	3278					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.9833G>A	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.760018	0.31137	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03152	4.03;4.03	4.92	0.975	0.19721	.	0.474686	0.24321	N	0.039543	T	0.00608	0.0020	L	0.39566	1.225	0.22796	N	0.998725	B	0.02656	0.0	B	0.04013	0.001	T	0.49143	-0.8970	10	0.02654	T	1	.	1.1488	0.01781	0.1465:0.3684:0.144:0.3411	.	3278	Q9NU22	MDN1_HUMAN	K	3278	ENSP00000358400:R3278K;ENSP00000413970:R3278K	ENSP00000358400:R3278K	R	-	2	0	MDN1	90460562	1.000000	0.71417	0.996000	0.52242	0.790000	0.44656	0.792000	0.26929	-0.039000	0.13602	0.655000	0.94253	AGA		0.468	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			11	48	0	0	0	1	0	11	48				
RPRD2	23248	broad.mit.edu	37	1	150432736	150432736	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:150432736G>A	ENST00000369068.4	+	9	1358	c.1354G>A	c.(1354-1356)Gat>Aat	p.D452N	RPRD2_ENST00000539519.1_Missense_Mutation_p.D426N|RPRD2_ENST00000401000.4_Missense_Mutation_p.D426N|RPRD2_ENST00000492220.1_3'UTR	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	452						DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GGCTAATGTGGATCTGGCAAA	0.438																																						ENST00000401000.4																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(1276-1278)Gat>Aat		regulation of nuclear pre-mRNA domain containing 2							64.0	62.0	63.0					1																	150432736		1863	4121	5984	SO:0001583	missense	23248						protein binding	g.chr1:150432736G>A	BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"""KIAA0460"""	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.1354G>A	1.37:g.150432736G>A	ENSP00000358064:p.Asp452Asn					RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Missense_Mutation_p.D452N|RPRD2_ENST00000539519.1_Missense_Mutation_p.D426N	p.D426N			Q5VT52	RPRD2_HUMAN			8	1341	+			452					A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	ENST00000369068.4	37	c.1276G>A	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.128354	0.77549	.	.	ENSG00000163125	ENST00000401000;ENST00000539519;ENST00000369068	T;T;T	0.59638	0.45;0.52;0.25	4.92	4.92	0.64577	.	0.046090	0.85682	D	0.000000	T	0.53626	0.1808	L	0.58101	1.795	0.58432	D	0.999992	P;P;P	0.50443	0.935;0.455;0.933	P;B;P	0.47470	0.466;0.247;0.548	T	0.56208	-0.8017	10	0.46703	T	0.11	-5.865	18.2433	0.89974	0.0:0.0:1.0:0.0	.	426;452;426	B4E2Q6;Q5VT52;Q5VT52-3	.;RPRD2_HUMAN;.	N	426;426;452	ENSP00000383785:D426N;ENSP00000445482:D426N;ENSP00000358064:D452N	ENSP00000358064:D452N	D	+	1	0	RPRD2	148699360	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.920000	0.92779	2.718000	0.92993	0.484000	0.47621	GAT		0.438	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		9	22	0	0	0	1	0	9	22				
ABCE1	6059	broad.mit.edu	37	4	146033476	146033476	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr4:146033476G>C	ENST00000296577.4	+	9	1311	c.796G>C	c.(796-798)Gat>Cat	p.D266H	OTUD4_ENST00000455611.2_Intron|ABCE1_ENST00000502803.1_Intron	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	266	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				negative regulation of catalytic activity (GO:0043086)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|iron-sulfur cluster binding (GO:0051536)|ribonuclease inhibitor activity (GO:0008428)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					AATAAATCCAGATAGGTAAGT	0.338																																						ENST00000296577.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18						c.(796-798)Gat>Cat		ATP-binding cassette, sub-family E (OABP), member 1							60.0	57.0	58.0					4																	146033476		2203	4298	6501	SO:0001583	missense	6059				interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity	g.chr4:146033476G>C	X74987	CCDS34071.1	4q31	2012-03-14			ENSG00000164163	ENSG00000164163		"""ATP binding cassette transporters / subfamily E"""	69	protein-coding gene	gene with protein product		601213		RNASEL1, RNASELI, RNS4I		7539425	Standard	NM_002940		Approved	RLI, OABP	uc003ijy.3	P61221	OTTHUMG00000161478	ENST00000296577.4:c.796G>C	4.37:g.146033476G>C	ENSP00000296577:p.Asp266His					ABCE1_ENST00000502803.1_Intron|OTUD4_ENST00000455611.2_Intron	p.D266H	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN			9	1311	+	all_hematologic(180;0.151)		266			ABC transporter 1.		O88793|Q13181|Q13864|Q6NR76|Q96AL0|Q96B10|Q99K66	Missense_Mutation	SNP	ENST00000296577.4	37	c.796G>C	CCDS34071.1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.748458	0.69533	.	.	ENSG00000164163	ENST00000296577	D	0.85258	-1.96	5.54	5.54	0.83059	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.82838	0.5124	L	0.45137	1.4	0.80722	D	1	B	0.18310	0.027	B	0.20767	0.031	T	0.77800	-0.2452	10	0.54805	T	0.06	-39.6149	19.8328	0.96642	0.0:0.0:1.0:0.0	.	266	P61221	ABCE1_HUMAN	H	266	ENSP00000296577:D266H	ENSP00000296577:D266H	D	+	1	0	ABCE1	146252926	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.307000	0.96226	2.758000	0.94735	0.591000	0.81541	GAT		0.338	ABCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365104.1	NM_002940		5	7	0	0	0	1	0	5	7				
FASTKD5	60493	broad.mit.edu	37	20	3128827	3128827	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr20:3128827T>C	ENST00000380266.3	-	2	1211	c.890A>G	c.(889-891)gAc>gGc	p.D297G	UBOX5_ENST00000348031.2_Intron|UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	297					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						TTGCATTAGGTCCTGGGATAC	0.338																																						ENST00000380266.3																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						c.(889-891)gAc>gGc		FAST kinase domains 5							73.0	75.0	74.0					20																	3128827		2203	4300	6503	SO:0001583	missense	60493				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr20:3128827T>C	BC007413	CCDS13048.1	20p13	2006-07-07			ENSG00000215251	ENSG00000215251			25790	protein-coding gene	gene with protein product		614272				11347906	Standard	NM_021826		Approved	FLJ13149	uc002whz.4	Q7L8L6	OTTHUMG00000031727	ENST00000380266.3:c.890A>G	20.37:g.3128827T>C	ENSP00000369618:p.Asp297Gly					UBOX5_ENST00000217173.2_Intron|UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA	p.D297G	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN			2	1211	-			297					Q96JN3|Q9H5D1|Q9H8Y3	Missense_Mutation	SNP	ENST00000380266.3	37	c.890A>G	CCDS13048.1	.	.	.	.	.	.	.	.	.	.	T	12.74	2.027980	0.35797	.	.	ENSG00000215251	ENST00000380266	T	0.16457	2.34	5.67	5.67	0.87782	.	0.198079	0.40554	N	0.001080	T	0.27765	0.0683	L	0.29908	0.895	0.42564	D	0.993154	D	0.76494	0.999	D	0.64144	0.922	T	0.02352	-1.1172	10	0.28530	T	0.3	.	15.908	0.79445	0.0:0.0:0.0:1.0	.	297	Q7L8L6	FAKD5_HUMAN	G	297	ENSP00000369618:D297G	ENSP00000369618:D297G	D	-	2	0	FASTKD5	3076827	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	5.406000	0.66357	2.157000	0.67596	0.377000	0.23210	GAC		0.338	FASTKD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077701.2	NM_021826		22	65	0	0	0	1	0	22	65				
DNMT3B	1789	broad.mit.edu	37	20	31395680	31395680	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr20:31395680C>T	ENST00000328111.2	+	23	2854	c.2533C>T	c.(2533-2535)Cct>Tct	p.P845S	DNMT3B_ENST00000344505.4_Missense_Mutation_p.P785L|DNMT3B_ENST00000201963.3_Missense_Mutation_p.P837S|DNMT3B_ENST00000456297.2_Missense_Mutation_p.P686S|DNMT3B_ENST00000443239.3_Missense_Mutation_p.P720S|DNMT3B_ENST00000353855.2_Missense_Mutation_p.P825S|DNMT3B_ENST00000348286.2_Missense_Mutation_p.P762S	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	845	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCTCTTCGCCCCTCTGAAGGA	0.607																																						ENST00000328111.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2533-2535)Cct>Tct		DNA (cytosine-5-)-methyltransferase 3 beta							132.0	119.0	124.0					20																	31395680		2203	4300	6503	SO:0001583	missense	1789				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	g.chr20:31395680C>T		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.2533C>T	20.37:g.31395680C>T	ENSP00000328547:p.Pro845Ser					DNMT3B_ENST00000353855.2_Missense_Mutation_p.P825S|DNMT3B_ENST00000348286.2_Missense_Mutation_p.P762S|DNMT3B_ENST00000201963.3_Missense_Mutation_p.P837S|DNMT3B_ENST00000344505.4_Missense_Mutation_p.P785L|DNMT3B_ENST00000443239.3_Missense_Mutation_p.P720S|DNMT3B_ENST00000456297.2_Missense_Mutation_p.P686S	p.P845S	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN			23	2854	+			845					A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Missense_Mutation	SNP	ENST00000328111.2	37	c.2533C>T	CCDS13205.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.1|25.1	4.601028|4.601028	0.87055|0.87055	.|.	.|.	ENSG00000088305|ENSG00000088305	ENST00000344505|ENST00000328111;ENST00000353855;ENST00000348286;ENST00000443239;ENST00000456297;ENST00000201963	D|D;D;D;D;D;D	0.96774|0.96365	-4.12|-3.99;-3.99;-3.99;-3.99;-3.99;-3.99	5.35|5.35	4.41|4.41	0.53225|0.53225	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.97745|0.97745	0.9260|0.9260	M|M	0.77616|0.77616	2.38|2.38	0.80722|0.80722	D|D	1|1	.|P;P;P;D;P;D;D	.|0.89917	.|0.911;0.911;0.799;0.998;0.946;0.998;1.0	.|B;B;B;P;P;P;D	.|0.79784	.|0.311;0.311;0.234;0.904;0.509;0.904;0.993	D|D	0.98465|0.98465	1.0598|1.0598	8|10	0.87932|0.87932	D|D	0|0	-29.7538|-29.7538	13.6677|13.6677	0.62405|0.62405	0.0:0.926:0.0:0.074|0.0:0.926:0.0:0.074	.|.	.|686;720;481;837;762;825;845	.|E9PBF2;E7EN63;B3KM53;Q9UBC3-6;Q9UBC3-3;Q9UBC3-2;Q9UBC3	.|.;.;.;.;.;.;DNM3B_HUMAN	L|S	785|845;825;762;720;686;837	ENSP00000345105:P785L|ENSP00000328547:P845S;ENSP00000313397:P825S;ENSP00000337764:P762S;ENSP00000403169:P720S;ENSP00000412305:P686S;ENSP00000201963:P837S	ENSP00000345105:P785L|ENSP00000201963:P837S	P|P	+|+	2|1	0|0	DNMT3B|DNMT3B	30859341|30859341	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.651000|7.651000	0.83577|0.83577	1.630000|1.630000	0.50440|0.50440	0.655000|0.655000	0.94253|0.94253	CCC|CCT		0.607	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		34	122	0	0	0	1	0	34	122				
FNIP1	96459	broad.mit.edu	37	5	131007718	131007718	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:131007718C>T	ENST00000510461.1	-	14	2514	c.2419G>A	c.(2419-2421)Gag>Aag	p.E807K	FNIP1_ENST00000307968.7_Missense_Mutation_p.E779K|CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000307954.8_Missense_Mutation_p.E762K	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	807					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		GTATCAGACTCTCCAGATTGG	0.418																																						ENST00000307968.7																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(2335-2337)Gag>Aag		folliculin interacting protein 1							205.0	188.0	194.0					5																	131007718		2203	4300	6503	SO:0001583	missense	96459							g.chr5:131007718C>T	DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.2419G>A	5.37:g.131007718C>T	ENSP00000421985:p.Glu807Lys					FNIP1_ENST00000307954.8_Missense_Mutation_p.E762K|FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000510461.1_Missense_Mutation_p.E807K	p.E779K	NM_001008738.2	NP_001008738.2			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)	13	2334	-		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)						D6RJH5|Q86T47|Q9BUT0	Missense_Mutation	SNP	ENST00000510461.1	37	c.2335G>A	CCDS34227.1	.	.	.	.	.	.	.	.	.	.	C	3.852	-0.031662	0.07543	.	.	ENSG00000217128	ENST00000307968;ENST00000307954;ENST00000544351;ENST00000510461	T;T;T	0.46063	0.88;0.88;0.88	5.73	5.73	0.89815	.	.	.	.	.	T	0.26882	0.0658	N	0.12182	0.205	0.80722	D	1	B;B;B	0.21147	0.034;0.052;0.003	B;B;B	0.26969	0.022;0.075;0.003	T	0.10019	-1.0648	9	0.06365	T	0.9	-0.3478	18.0733	0.89419	0.0:1.0:0.0:0.0	.	807;779;807	A8K8V8;Q8TF40-3;Q8TF40	.;.;FNIP1_HUMAN	K	779;762;559;807	ENSP00000309266:E779K;ENSP00000310453:E762K;ENSP00000421985:E807K	ENSP00000310453:E762K	E	-	1	0	FNIP1	131035617	0.991000	0.36638	0.979000	0.43373	0.582000	0.36321	1.956000	0.40382	2.713000	0.92767	0.591000	0.81541	GAG		0.418	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372		29	105	0	0	0	1	0	29	105				
CCDC180	100499483	broad.mit.edu	37	9	100079383	100079383	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr9:100079383C>G	ENST00000357054.1	+	23	2316	c.1381C>G	c.(1381-1383)Ctc>Gtc	p.L461V	CCDC180_ENST00000395220.1_Missense_Mutation_p.L461V|CCDC180_ENST00000375202.2_Missense_Mutation_p.L322V|CCDC180_ENST00000529487.1_Missense_Mutation_p.L322V|CCDC180_ENST00000460482.2_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000411667.2_Missense_Mutation_p.L319V			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	461						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											CCGGAAGGCTCTCGCCCAGCT	0.622																																						ENST00000375202.2																			0											c.(964-966)Ctc>Gtc		coiled-coil domain containing 180							105.0	103.0	103.0					9																	100079383		2203	4300	6503	SO:0001583	missense	100499483							g.chr9:100079383C>G	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.1381C>G	9.37:g.100079383C>G	ENSP00000349562:p.Leu461Val					CCDC180_ENST00000395220.1_Missense_Mutation_p.L461V|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000357054.1_Missense_Mutation_p.L461V|CCDC180_ENST00000411667.2_Missense_Mutation_p.L319V|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000529487.1_Missense_Mutation_p.L322V	p.L322V							23	2316	+								Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37	c.964C>G		.	.	.	.	.	.	.	.	.	.	C	6.413	0.444322	0.12164	.	.	ENSG00000197816	ENST00000357054;ENST00000395220;ENST00000375202;ENST00000411667;ENST00000541524;ENST00000529487	T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0	5.28	1.71	0.24356	.	0.297293	0.33040	N	0.005349	T	0.12603	0.0306	N	0.22421	0.69	0.22796	N	0.998725	B;B;B;B	0.20988	0.05;0.012;0.012;0.012	B;B;B;B	0.17722	0.019;0.008;0.008;0.008	T	0.29119	-1.0022	10	0.19147	T	0.46	-12.8862	11.4887	0.50369	0.6244:0.3756:0.0:0.0	.	319;461;322;461	F5H149;B7ZMG3;Q9P1Z9-2;Q9P1Z9	.;.;.;CI174_HUMAN	V	461;461;322;319;345;322	ENSP00000349562:L461V;ENSP00000378646:L461V;ENSP00000364348:L322V;ENSP00000414000:L319V;ENSP00000434727:L322V	ENSP00000349562:L461V	L	+	1	0	C9orf174	99119204	0.998000	0.40836	0.997000	0.53966	0.186000	0.23388	0.821000	0.27338	0.094000	0.17404	-0.261000	0.10672	CTC		0.622	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		71	167	0	0	0	1	0	71	167				
RYR1	6261	broad.mit.edu	37	19	38979979	38979979	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:38979979G>A	ENST00000359596.3	+	35	5710	c.5710G>A	c.(5710-5712)Gaa>Aaa	p.E1904K	RYR1_ENST00000360985.3_Missense_Mutation_p.E1904K|RYR1_ENST00000355481.4_Missense_Mutation_p.E1904K			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1904	6 X approximate repeats.|Glu-rich (acidic).				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	acaggaaaaggaagatgagga	0.517																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(5710-5712)Gaa>Aaa		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						130.0	100.0	111.0					19																	38979979		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38979979G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.5710G>A	19.37:g.38979979G>A	ENSP00000352608:p.Glu1904Lys					RYR1_ENST00000360985.3_Missense_Mutation_p.E1904K|RYR1_ENST00000359596.3_Missense_Mutation_p.E1904K	p.E1904K	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		35	5841	+	all_cancers(60;7.91e-06)		1904			6 X approximate repeats.|Glu-rich (acidic).		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.5710G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	g	11.33	1.608227	0.28623	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.07114	3.22;3.22;3.22	4.06	2.97	0.34412	.	0.096875	0.37530	U	0.002055	T	0.05777	0.0151	L	0.29908	0.895	0.26968	N	0.96564	B;B	0.10296	0.0;0.003	B;B	0.11329	0.002;0.006	T	0.36432	-0.9748	10	0.09338	T	0.73	.	11.2078	0.48780	0.0966:0.0:0.9034:0.0	.	1904;1904	P21817-2;P21817	.;RYR1_HUMAN	K	1904	ENSP00000352608:E1904K;ENSP00000347667:E1904K;ENSP00000354254:E1904K	ENSP00000347667:E1904K	E	+	1	0	RYR1	43671819	1.000000	0.71417	1.000000	0.80357	0.685000	0.39939	3.717000	0.54911	2.073000	0.62155	0.552000	0.68991	GAA		0.517	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			23	47	0	0	0	1	0	23	47				
OLFM4	10562	broad.mit.edu	37	13	53624563	53624563	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr13:53624563C>G	ENST00000219022.2	+	5	1268	c.1190C>G	c.(1189-1191)tCa>tGa	p.S397*		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	397	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				cell adhesion (GO:0007155)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein homooligomerization (GO:0051260)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	cadherin binding (GO:0045296)|catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		GTTATTTATTCAACTGAAGCC	0.403																																						ENST00000219022.2																			0				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39						c.(1189-1191)tCa>tGa		olfactomedin 4							176.0	168.0	171.0					13																	53624563		2203	4300	6503	SO:0001587	stop_gained	10562				cell adhesion	extracellular space		g.chr13:53624563C>G	AY358567	CCDS9440.1	13q14	2004-06-25			ENSG00000102837	ENSG00000102837			17190	protein-coding gene	gene with protein product		614061					Standard	NM_006418		Approved	OlfD, GW112, GC1	uc001vhl.3	Q6UX06	OTTHUMG00000016981	ENST00000219022.2:c.1190C>G	13.37:g.53624563C>G	ENSP00000219022:p.Ser397*						p.S397*	NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN		GBM - Glioblastoma multiforme(99;3.13e-08)	5	1268	+		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	397			Olfactomedin-like.		O95362|Q5VWG0|Q86T22	Nonsense_Mutation	SNP	ENST00000219022.2	37	c.1190C>G	CCDS9440.1	.	.	.	.	.	.	.	.	.	.	C	37	6.425613	0.97555	.	.	ENSG00000102837	ENST00000219022	.	.	.	5.92	5.92	0.95590	.	0.456370	0.24576	N	0.037352	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.3172	0.98658	0.0:1.0:0.0:0.0	.	.	.	.	X	397	.	ENSP00000219022:S397X	S	+	2	0	OLFM4	52522564	1.000000	0.71417	0.987000	0.45799	0.984000	0.73092	4.960000	0.63673	2.801000	0.96364	0.650000	0.86243	TCA		0.403	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045112.2	NM_006418		50	112	0	0	0	1	0	50	112				
PKD1	5310	broad.mit.edu	37	16	2164194	2164194	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr16:2164194G>A	ENST00000262304.4	-	11	3038	c.2830C>T	c.(2830-2832)Cgt>Tgt	p.R944C	RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.R944C	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	944	PKD 4. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TGCAGTACACGGGCCTCGGGG	0.701																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(2830-2832)Cgt>Tgt		polycystic kidney disease 1 (autosomal dominant)							15.0	15.0	15.0					16																	2164194		2164	4235	6399	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2164194G>A	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.2830C>T	16.37:g.2164194G>A	ENSP00000262304:p.Arg944Cys					PKD1_ENST00000423118.1_Missense_Mutation_p.R944C	p.R944C	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			11	3038	-			944			PKD 4.		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.2830C>T	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	g	14.02	2.410753	0.42817	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.60920	0.15;0.15	4.96	4.96	0.65561	PKD/Chitinase domain (1);Polycystin cation channel (1);PKD domain (1);	0.000000	0.85682	D	0.000000	T	0.70675	0.3251	L	0.59436	1.845	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.73350	-0.4010	10	0.87932	D	0	.	11.6141	0.51078	0.0:0.0:0.6925:0.3075	.	944;944	P98161-3;P98161	.;PKD1_HUMAN	C	944;944;659	ENSP00000262304:R944C;ENSP00000399501:R944C	ENSP00000262304:R944C	R	-	1	0	PKD1	2104195	1.000000	0.71417	0.995000	0.50966	0.164000	0.22412	3.084000	0.50143	2.299000	0.77371	0.450000	0.29827	CGT		0.701	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			14	59	0	0	0	1	0	14	59				
CCDC42	146849	broad.mit.edu	37	17	8647848	8647848	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:8647848A>G	ENST00000293845.3	-	1	306	c.80T>C	c.(79-81)cTc>cCc	p.L27P	CCDC42_ENST00000539522.2_Missense_Mutation_p.L27P	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	27										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						CACTCACTGGAGCATCTGCAG	0.622																																						ENST00000293845.3																			0				kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						c.(79-81)cTc>cCc		coiled-coil domain containing 42							84.0	77.0	80.0					17																	8647848		2203	4300	6503	SO:0001583	missense	146849							g.chr17:8647848A>G	AK057296	CCDS11145.1, CCDS54088.1	17p13.1	2012-05-28			ENSG00000161973	ENSG00000161973			26528	protein-coding gene	gene with protein product							Standard	NM_144681		Approved	FLJ32734, CCDC42A	uc002gln.3	Q96M95		ENST00000293845.3:c.80T>C	17.37:g.8647848A>G	ENSP00000293845:p.Leu27Pro					CCDC42_ENST00000539522.2_Missense_Mutation_p.L27P	p.L27P	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN			1	306	-			27					Q8N6Q0	Missense_Mutation	SNP	ENST00000293845.3	37	c.80T>C	CCDS11145.1	.	.	.	.	.	.	.	.	.	.	A	14.18	2.458943	0.43634	.	.	ENSG00000161973	ENST00000293845;ENST00000539522	T;T	0.27890	1.65;1.64	5.44	5.44	0.79542	.	0.000000	0.49916	D	0.000136	T	0.39306	0.1073	L	0.27053	0.805	0.80722	D	1	D	0.71674	0.998	D	0.65573	0.936	T	0.14615	-1.0466	10	0.37606	T	0.19	.	13.0259	0.58814	1.0:0.0:0.0:0.0	.	27	Q96M95	CCD42_HUMAN	P	27	ENSP00000293845:L27P;ENSP00000444359:L27P	ENSP00000293845:L27P	L	-	2	0	CCDC42	8588573	0.971000	0.33674	0.999000	0.59377	0.132000	0.20833	5.240000	0.65378	2.067000	0.61834	0.459000	0.35465	CTC		0.622	CCDC42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442491.1	NM_144681		15	64	0	0	0	1	0	15	64				
CD28	940	broad.mit.edu	37	2	204571443	204571443	+	Silent	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:204571443C>T	ENST00000324106.8	+	1	173	c.24C>T	c.(22-24)ctC>ctT	p.L8L	CD28_ENST00000458610.2_Intron|CD28_ENST00000374481.3_Silent_p.L8L|CD28_ENST00000374478.4_Silent_p.L8L	NM_001243077.1|NM_006139.3	NP_001230006.1|NP_006130.1	P10747	CD28_HUMAN	CD28 molecule	8					apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|cytokine biosynthetic process (GO:0042089)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|negative thymic T cell selection (GO:0045060)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of inflammatory response to antigenic stimulus (GO:0002863)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of mitosis (GO:0045840)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of viral genome replication (GO:0045070)|regulation of defense response to virus by virus (GO:0050690)|regulatory T cell differentiation (GO:0045066)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						TCTTGGCTCTCAACTTATTCC	0.438																																						ENST00000374481.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(22-24)ctC>ctT		CD28 molecule							139.0	114.0	122.0					2																	204571443		2203	4300	6503	SO:0001819	synonymous_variant	940				cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	coreceptor activity|protease binding|SH3/SH2 adaptor activity	g.chr2:204571443C>T	J02988	CCDS2361.1, CCDS58749.1	2q33	2013-01-11	2006-03-28		ENSG00000178562	ENSG00000178562		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1653	protein-coding gene	gene with protein product	"""T-cell-specific surface glycoprotein"""	186760	"""CD28 antigen (Tp44)"""			1355979	Standard	NM_006139		Approved		uc002vah.4	P10747	OTTHUMG00000132878	ENST00000324106.8:c.24C>T	2.37:g.204571443C>T						CD28_ENST00000324106.7_Silent_p.L8L|CD28_ENST00000458610.2_Intron|CD28_ENST00000374478.4_Silent_p.L8L	p.L8L			P10747	CD28_HUMAN			1	246	+			8					A8KAC1|Q13964|Q52M23|Q70WG0|Q8NI54|Q8NI55|Q8NI56|Q8WXJ2|Q9BYV0	Silent	SNP	ENST00000324106.8	37	c.24C>T	CCDS2361.1																																																																																				0.438	CD28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256366.3	NM_006139		16	50	0	0	0	1	0	16	50				
SP140L	93349	broad.mit.edu	37	2	231193506	231193506	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:231193506G>C	ENST00000415673.2	+	2	153	c.67G>C	c.(67-69)Gag>Cag	p.E23Q	SP140_ENST00000486687.2_Intron|SP140L_ENST00000444636.1_Missense_Mutation_p.E23Q|SP140L_ENST00000396563.4_Missense_Mutation_p.E23Q|SP140L_ENST00000243810.6_Missense_Mutation_p.E23Q	NM_138402.4	NP_612411.4	Q9H930	SP14L_HUMAN	SP140 nuclear body protein-like	23						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						agtagcaaatgagatgaacca	0.383																																						ENST00000243810.6																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						c.(67-69)Gag>Cag		SP140 nuclear body protein-like							107.0	112.0	111.0					2																	231193506		2202	4300	6502	SO:0001583	missense	93349					nucleus	DNA binding|metal ion binding	g.chr2:231193506G>C	BC004921	CCDS46538.1	2q37.1	2013-01-28			ENSG00000185404	ENSG00000185404		"""Zinc fingers, PHD-type"""	25105	protein-coding gene	gene with protein product						12477932	Standard	NM_138402		Approved		uc010fxm.1	Q9H930	OTTHUMG00000153730	ENST00000415673.2:c.67G>C	2.37:g.231193506G>C	ENSP00000397911:p.Glu23Gln					SP140_ENST00000486687.2_Intron|SP140L_ENST00000396563.4_Missense_Mutation_p.E23Q|SP140L_ENST00000444636.1_Missense_Mutation_p.E23Q|SP140L_ENST00000415673.2_Missense_Mutation_p.E23Q	p.E23Q			Q9H930	LY10L_HUMAN			2	67	+			23					Q2M375|Q4ZG65|Q9BSP3	Missense_Mutation	SNP	ENST00000415673.2	37	c.67G>C	CCDS46538.1	.	.	.	.	.	.	.	.	.	.	G	7.656	0.684002	0.14907	.	.	ENSG00000185404	ENST00000444636;ENST00000415673;ENST00000243810;ENST00000396563	D;T;D;D	0.85702	-1.85;-1.48;-1.85;-2.02	1.77	-2.42	0.06542	.	.	.	.	.	T	0.76730	0.4028	N	0.08118	0	0.09310	N	1	D	0.55172	0.97	D	0.66351	0.943	T	0.65615	-0.6125	9	0.21540	T	0.41	.	2.4598	0.04538	0.2065:0.0:0.3199:0.4736	.	23	Q9H930-4	.	Q	23	ENSP00000395195:E23Q;ENSP00000397911:E23Q;ENSP00000243810:E23Q;ENSP00000379811:E23Q	ENSP00000243810:E23Q	E	+	1	0	SP140L	230901750	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	-0.068000	0.11561	-0.685000	0.05177	-0.424000	0.05967	GAG		0.383	SP140L-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374538.1	NM_138402		10	27	0	0	0	1	0	10	27				
RGR	5995	broad.mit.edu	37	10	86017661	86017661	+	Missense_Mutation	SNP	C	C	G	rs145994931		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr10:86017661C>G	ENST00000359452.4	+	6	693	c.655C>G	c.(655-657)Ctg>Gtg	p.L219V	RGR_ENST00000479725.1_3'UTR|RGR_ENST00000358110.5_Intron	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN	retinal G protein coupled receptor	215					chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						AAACACCACTCTGCCAGCAAG	0.562																																					NSCLC(15;204 545 5889 6385 32445)	ENST00000359452.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						c.(655-657)Ctg>Gtg		retinal G protein coupled receptor							77.0	70.0	72.0					10																	86017661		2203	4300	6503	SO:0001583	missense	5995				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding	g.chr10:86017661C>G	BC011349	CCDS7374.1, CCDS41543.1	10q23	2013-02-14			ENSG00000148604	ENSG00000148604		"""GPCR / Class A : Opsin receptors"""	9990	protein-coding gene	gene with protein product	"""RGR-opsin"""	600342				8641686	Standard	NM_002921		Approved	RP44	uc001kdd.1	P47804	OTTHUMG00000018636	ENST00000359452.4:c.655C>G	10.37:g.86017661C>G	ENSP00000352427:p.Leu219Val					RGR_ENST00000358110.5_Intron|RGR_ENST00000479725.1_3'UTR	p.L219V	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN			6	693	+			215					A6NKK7|Q96FC5	Missense_Mutation	SNP	ENST00000359452.4	37	c.655C>G	CCDS7374.1	.	.	.	.	.	.	.	.	.	.	C	4.546	0.101440	0.08731	.	.	ENSG00000148604	ENST00000359452	T	0.38560	1.13	4.48	2.59	0.31030	GPCR, rhodopsin-like superfamily (1);	0.217516	0.38897	N	0.001535	T	0.19406	0.0466	N	0.25201	0.72	0.39316	D	0.96516	B;B	0.15930	0.015;0.002	B;B	0.20577	0.012;0.03	T	0.15464	-1.0436	10	0.05525	T	0.97	.	2.1855	0.03885	0.16:0.5083:0.1553:0.1764	.	219;215	P47804-2;P47804	.;RGR_HUMAN	V	219	ENSP00000352427:L219V	ENSP00000352427:L219V	L	+	1	2	RGR	86007641	0.008000	0.16893	0.802000	0.32245	0.295000	0.27426	0.013000	0.13310	0.576000	0.29452	-0.140000	0.14226	CTG		0.562	RGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049116.1	NM_002921		19	44	0	0	0	1	0	19	44				
DPYSL5	56896	broad.mit.edu	37	2	27121556	27121556	+	Silent	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:27121556C>T	ENST00000288699.6	+	2	347	c.189C>T	c.(187-189)atC>atT	p.I63I	DPYSL5_ENST00000401478.1_Silent_p.I63I	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	63					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGTGGCATCGACACCAGCA	0.572																																						ENST00000288699.6																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27						c.(187-189)atC>atT		dihydropyrimidinase-like 5							97.0	85.0	89.0					2																	27121556		2203	4300	6503	SO:0001819	synonymous_variant	56896				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr2:27121556C>T	AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.189C>T	2.37:g.27121556C>T						DPYSL5_ENST00000401478.1_Silent_p.I63I	p.I63I	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN			2	347	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		63					Q8TCL6|Q9NQC4|Q9NRY9	Silent	SNP	ENST00000288699.6	37	c.189C>T	CCDS1730.1																																																																																				0.572	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214187.2	NM_020134		25	39	0	0	0	1	0	25	39				
ORC3	23595	broad.mit.edu	37	6	88315655	88315655	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:88315655G>C	ENST00000392844.3	+	5	391	c.343G>C	c.(343-345)Gat>Cat	p.D115H	ORC3_ENST00000417380.2_Missense_Mutation_p.D62H|ORC3_ENST00000546266.1_5'UTR|ORC3_ENST00000257789.4_Missense_Mutation_p.D115H	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	115					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|neural precursor cell proliferation (GO:0061351)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|origin recognition complex (GO:0000808)	DNA replication origin binding (GO:0003688)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						CACAGATCATGATTTGACATT	0.313																																						ENST00000392844.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						c.(343-345)Gat>Cat		origin recognition complex, subunit 3							116.0	116.0	116.0					6																	88315655		2203	4300	6503	SO:0001583	missense	23595				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding	g.chr6:88315655G>C	AF093535	CCDS5012.1, CCDS43486.1, CCDS56440.1	6q	2010-10-12	2010-10-12	2010-10-12	ENSG00000135336	ENSG00000135336			8489	protein-coding gene	gene with protein product		604972	"""origin recognition complex, subunit 3 (yeast homolog)-like"", ""origin recognition complex, subunit 3-like (yeast)"", ""origin recognition complex, subunit 3 honolog (yeast)"""	ORC3L		9829972, 10402192	Standard	NM_181837		Approved	IMAGE50150, LATHEO	uc003pmg.3	Q9UBD5	OTTHUMG00000015179	ENST00000392844.3:c.343G>C	6.37:g.88315655G>C	ENSP00000376586:p.Asp115His					ORC3_ENST00000546266.1_5'UTR|ORC3_ENST00000417380.2_Missense_Mutation_p.D62H|ORC3_ENST00000257789.4_Missense_Mutation_p.D115H	p.D115H	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN			5	391	+			115					A2A2T5|B4E025|Q13565|Q53GY6|Q5T159|Q6IUY7|Q86TN5|Q9UG44|Q9UNT6	Missense_Mutation	SNP	ENST00000392844.3	37	c.343G>C	CCDS43486.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.421564	0.62622	.	.	ENSG00000135336	ENST00000392844;ENST00000257789;ENST00000417380	T;T;T	0.14893	2.47;2.47;2.47	5.44	5.44	0.79542	.	0.137072	0.64402	D	0.000005	T	0.23094	0.0558	M	0.76838	2.35	0.80722	D	1	B;P;P;B;B	0.43477	0.177;0.456;0.808;0.051;0.041	B;B;P;B;B	0.47162	0.17;0.301;0.54;0.063;0.067	T	0.01185	-1.1425	10	0.32370	T	0.25	30.5341	19.6085	0.95589	0.0:0.0:1.0:0.0	.	115;115;115;115;115	B7ZAI3;B7Z8A5;B4E014;Q9UBD5;Q9UBD5-2	.;.;.;ORC3_HUMAN;.	H	115;115;62	ENSP00000376586:D115H;ENSP00000257789:D115H;ENSP00000390176:D62H	ENSP00000257789:D115H	D	+	1	0	ORC3	88372374	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.659000	0.91116	2.701000	0.92244	0.591000	0.81541	GAT		0.313	ORC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041452.2			19	65	0	0	0	1	0	19	65				
STK11	6794	broad.mit.edu	37	19	1221325	1221325	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:1221325C>T	ENST00000326873.7	+	6	2021	c.848C>T	c.(847-849)tCt>tTt	p.S283F		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	283	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.?(2)|p.Y246fs*3(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCCGCTCTCTGACCTGCTG	0.627		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																												ENST00000326873.7		14	yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	"""D, Mis, N, F, S"""	serine/threonine kinase 11 gene (LKB1)			"""E, M, O"""		"""jejunal harmartoma, ovarian, testicular, pancreatic"""	"""NSCLC, pancreatic"""		23	Whole gene deletion(20)|Unknown(2)|Deletion - Frameshift(1)	p.0?(20)|p.?(2)|p.Y246fs*3(1)	cervix(14)|lung(5)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)	biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328						c.(847-849)tCt>tTt		serine/threonine kinase 11							31.0	34.0	33.0					19																	1221325		1913	4098	6011	SO:0001583	missense	6794	Peutz-Jeghers syndrome	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:1221325C>T	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"""polarization-related protein LKB1"""	602216	"""serine/threonine kinase 11 (Peutz-Jeghers syndrome)"""			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.848C>T	19.37:g.1221325C>T	ENSP00000324856:p.Ser283Phe	TSP Lung(3;<1E-08)					p.S283F	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)	6	2021	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)	283			Protein kinase.		B2RBX7|E7EW76	Missense_Mutation	SNP	ENST00000326873.7	37	c.848C>T	CCDS45896.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.654648	0.88056	.	.	ENSG00000118046	ENST00000326873;ENST00000405031	T	0.65732	-0.17	4.22	4.22	0.49857	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.056159	0.85682	D	0.000000	T	0.68384	0.2995	L	0.49126	1.545	0.80722	D	1	D	0.60160	0.987	P	0.54590	0.756	T	0.72861	-0.4164	10	0.62326	D	0.03	-22.018	15.7451	0.77932	0.0:1.0:0.0:0.0	.	283	Q15831	STK11_HUMAN	F	283	ENSP00000324856:S283F	ENSP00000324856:S283F	S	+	2	0	STK11	1172325	1.000000	0.71417	0.945000	0.38365	0.887000	0.51463	7.526000	0.81920	2.180000	0.69256	0.561000	0.74099	TCT		0.627	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449839.3	NM_000455		8	17	0	0	0	1	0	8	17				
DDB2	1643	broad.mit.edu	37	11	47259551	47259551	+	Splice_Site	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:47259551C>T	ENST00000256996.4	+	8	1382	c.1187C>T	c.(1186-1188)tCg>tTg	p.S396L	DDB2_ENST00000378601.3_3'UTR|DDB2_ENST00000378603.3_Splice_Site_p.S332L|ACP2_ENST00000525230.1_5'Flank|DDB2_ENST00000378600.3_Splice_Site_p.S207L	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2, 48kDa	396					DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|pyrimidine dimer repair (GO:0006290)|response to UV (GO:0009411)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|nucleoplasm (GO:0005654)|protein complex (GO:0043234)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)	p.S396L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						GGCATCAGTTCGGTGAGGCTT	0.463			"""Mis, N"""			"""skin basal cell, skin squamous cell, melanoma"""		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000256996.4			yes	Rec		Xeroderma pigmentosum (E)	11	11p12	1643	"""Mis, N"""	damage-specific DNA binding protein 2			E		"""skin basal cell, skin squamous cell, melanoma"""			1	Substitution - Missense(1)	p.S396L(1)	breast(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						c.e8+1	Direct reversal of damage;Nucleotide excision repair (NER)	damage-specific DNA binding protein 2, 48kDa							87.0	74.0	78.0					11																	47259551		2201	4298	6499	SO:0001630	splice_region_variant	1643	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding	g.chr11:47259551C>T		CCDS7927.1, CCDS73284.1	11p12-p11	2014-09-17	2002-08-29			ENSG00000134574		"""WD repeat domain containing"""	2718	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group E protein"", ""UV-damaged DNA-binding protein 2"", ""DDB p48 subunit"""	600811	"""damage-specific DNA binding protein 2 (48kD)"""			8407967, 8530102	Standard	NM_000107		Approved	DDBB, UV-DDB2, FLJ34321	uc001neb.2	Q92466		ENST00000256996.4:c.1188+1C>T	11.37:g.47259551C>T						DDB2_ENST00000378600.3_Splice_Site_p.S207_splice|DDB2_ENST00000378601.3_3'UTR|DDB2_ENST00000378603.3_Splice_Site_p.S332_splice	p.S396_splice	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN			8	1382	+			396					B2R875|Q76E54|Q76E55|Q76E56|Q76E57	Splice_Site	SNP	ENST00000256996.4	37	c.1188_splice	CCDS7927.1	.	.	.	.	.	.	.	.	.	.	C	29.4	4.999241	0.93227	.	.	ENSG00000134574	ENST00000256996;ENST00000378603;ENST00000378600	T;T;T	0.69806	-0.43;2.55;-0.31	5.94	5.04	0.67666	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.051032	0.85682	N	0.000000	T	0.80819	0.4696	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.91635	0.999;0.979;0.776	T	0.83314	-0.0021	10	0.87932	D	0	-6.8412	15.0519	0.71881	0.0:0.9322:0.0:0.0678	.	332;207;396	Q92466-4;Q92466-2;Q92466	.;.;DDB2_HUMAN	L	396;332;207	ENSP00000256996:S396L;ENSP00000367866:S332L;ENSP00000367863:S207L	ENSP00000256996:S396L	S	+	2	0	DDB2	47216127	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	5.340000	0.65958	1.534000	0.49203	0.561000	0.74099	TCG		0.463	DDB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000107	Missense_Mutation	29	38	0	0	0	1	0	29	38				
WDR6	11180	broad.mit.edu	37	3	49050727	49050727	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:49050727G>A	ENST00000608424.1	+	2	1799	c.1760G>A	c.(1759-1761)cGt>cAt	p.R587H	WDR6_ENST00000395474.3_Missense_Mutation_p.R617H|WDR6_ENST00000489684.1_3'UTR|WDR6_ENST00000415265.2_Missense_Mutation_p.R35H|WDR6_ENST00000448293.1_Missense_Mutation_p.R536H			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	587					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		ACCACAGGGCGTGATGGAGCC	0.587																																						ENST00000395474.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(1849-1851)cGt>cAt		WD repeat domain 6							75.0	54.0	61.0					3																	49050727		2203	4300	6503	SO:0001583	missense	11180				cell cycle arrest|negative regulation of cell proliferation	cytoplasm		g.chr3:49050727G>A	AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"""WD repeat domain containing"""	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.1760G>A	3.37:g.49050727G>A	ENSP00000477389:p.Arg587His					WDR6_ENST00000448293.1_Missense_Mutation_p.R536H|WDR6_ENST00000415265.2_Missense_Mutation_p.R35H|WDR6_ENST00000489684.1_3'UTR	p.R617H	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN		Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)	2	2130	+			587					B4DHK2|Q3MIT1|Q9UF63	Missense_Mutation	SNP	ENST00000608424.1	37	c.1850G>A		.	.	.	.	.	.	.	.	.	.	G	16.72	3.201370	0.58234	.	.	ENSG00000178252	ENST00000395474;ENST00000415265;ENST00000448293	T;D	0.90261	-0.37;-2.64	5.35	5.35	0.76521	Quinoprotein amine dehydrogenase, beta chain-like (1);Six-bladed beta-propeller, TolB-like (1);	0.052231	0.85682	D	0.000000	D	0.94447	0.8213	M	0.69185	2.1	0.47737	D	0.999503	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.972;0.998	D	0.92281	0.5833	10	0.21540	T	0.41	-22.1807	19.0531	0.93053	0.0:0.0:1.0:0.0	.	35;587;536	E9PBK6;Q9NNW5;E9PDU5	.;WDR6_HUMAN;.	H	617;35;536	ENSP00000378857:R617H;ENSP00000413432:R536H	ENSP00000378857:R617H	R	+	2	0	WDR6	49025731	1.000000	0.71417	0.949000	0.38748	0.320000	0.28249	7.111000	0.77077	2.503000	0.84419	0.561000	0.74099	CGT		0.587	WDR6-024	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471652.1			14	32	0	0	0	1	0	14	32				
PROM1	8842	broad.mit.edu	37	4	16024960	16024960	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr4:16024960G>C	ENST00000510224.1	-	8	1021	c.773C>G	c.(772-774)tCc>tGc	p.S258C	PROM1_ENST00000447510.2_Missense_Mutation_p.S258C|PROM1_ENST00000543373.1_Missense_Mutation_p.S249C|PROM1_ENST00000539194.1_Missense_Mutation_p.S258C|PROM1_ENST00000502943.1_5'UTR|PROM1_ENST00000540805.1_Missense_Mutation_p.S258C|PROM1_ENST00000508167.1_Missense_Mutation_p.S249C|PROM1_ENST00000505450.1_Missense_Mutation_p.S249C			O43490	PROM1_HUMAN	prominin 1	258					camera-type eye photoreceptor cell differentiation (GO:0060219)|glomerular parietal epithelial cell differentiation (GO:0072139)|glomerular visceral epithelial cell differentiation (GO:0072112)|photoreceptor cell maintenance (GO:0045494)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|retina layer formation (GO:0010842)|retina morphogenesis in camera-type eye (GO:0060042)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actinin binding (GO:0042805)|cadherin binding (GO:0045296)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						TGTTGCCATGGACTTAATCTC	0.473																																						ENST00000505450.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						c.(745-747)tCc>tGc		prominin 1							111.0	111.0	111.0					4																	16024960		1991	4171	6162	SO:0001583	missense	8842				camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding	g.chr4:16024960G>C	AF027208	CCDS47029.1, CCDS54746.1, CCDS54747.1, CCDS54748.1	4p15	2013-06-06	2001-11-28	2003-03-28	ENSG00000007062	ENSG00000007062		"""CD molecules"""	9454	protein-coding gene	gene with protein product		604365	"""prominin (mouse)-like 1"", ""macular dystrophy, retinal 2"", ""Stargardt disease 4 (autosomal dominant)"""	PROML1, MCDR2, STGD4		11467842	Standard	NM_006017		Approved	AC133, CD133, RP41, CORD12	uc003goo.2	O43490	OTTHUMG00000160180	ENST00000510224.1:c.773C>G	4.37:g.16024960G>C	ENSP00000426809:p.Ser258Cys					PROM1_ENST00000447510.2_Missense_Mutation_p.S258C|PROM1_ENST00000502943.1_5'UTR|PROM1_ENST00000539194.1_Missense_Mutation_p.S258C|PROM1_ENST00000543373.1_Missense_Mutation_p.S249C|PROM1_ENST00000508167.1_Missense_Mutation_p.S249C|PROM1_ENST00000510224.1_Missense_Mutation_p.S258C|PROM1_ENST00000540805.1_Missense_Mutation_p.S258C	p.S249C	NM_001145848.1	NP_001139320.1	O43490	PROM1_HUMAN			7	1358	-			258					Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6	Missense_Mutation	SNP	ENST00000510224.1	37	c.746C>G	CCDS47029.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.569601	0.28003	.	.	ENSG00000007062	ENST00000447510;ENST00000540805;ENST00000539194;ENST00000505450;ENST00000508167;ENST00000510224;ENST00000543373	T;T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82;0.82	4.69	1.82	0.25136	.	0.741216	0.13203	N	0.405778	T	0.42131	0.1189	N	0.14661	0.345	0.23070	N	0.998348	D;D;D;D;D;D	0.61697	0.988;0.988;0.988;0.988;0.981;0.99	P;P;P;P;P;D	0.63033	0.854;0.854;0.854;0.854;0.673;0.91	T	0.15178	-1.0446	10	0.52906	T	0.07	-3.807	3.7349	0.08507	0.0829:0.1416:0.4847:0.2908	.	249;258;249;258;249;258	O43490-5;O43490-6;O43490-4;O43490-7;O43490-2;O43490	.;.;.;.;.;PROM1_HUMAN	C	258;258;258;249;249;258;249	ENSP00000415481:S258C;ENSP00000438045:S258C;ENSP00000443620:S258C;ENSP00000426090:S249C;ENSP00000427346:S249C;ENSP00000426809:S258C;ENSP00000445526:S249C	ENSP00000415481:S258C	S	-	2	0	PROM1	15634058	0.047000	0.20315	0.827000	0.32855	0.066000	0.16364	-0.005000	0.12855	0.569000	0.29329	0.655000	0.94253	TCC		0.473	PROM1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359595.2	NM_006017		7	11	0	0	0	1	0	7	11				
PCDH15	65217	broad.mit.edu	37	10	55626420	55626420	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr10:55626420G>A	ENST00000320301.6	-	27	4093	c.3699C>T	c.(3697-3699)agC>agT	p.S1233S	PCDH15_ENST00000395430.1_Silent_p.S1233S|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395445.1_Silent_p.S1240S|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000414778.1_Silent_p.S1238S|PCDH15_ENST00000361849.3_Silent_p.S1233S|PCDH15_ENST00000395438.1_Silent_p.S1233S|PCDH15_ENST00000437009.1_Silent_p.S1162S|PCDH15_ENST00000395433.1_Silent_p.S1211S|PCDH15_ENST00000409834.1_Silent_p.S844S|PCDH15_ENST00000373965.2_Silent_p.S1240S|PCDH15_ENST00000395432.2_Silent_p.S1196S|PCDH15_ENST00000395442.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1233	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CGGCTTTGCCGCTCAGTCCCT	0.408										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(3718-3720)agC>agT		protocadherin-related 15							103.0	89.0	94.0					10																	55626420		2203	4300	6503	SO:0001819	synonymous_variant	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55626420G>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.3699C>T	10.37:g.55626420G>A		HNSCC(58;0.16)				PCDH15_ENST00000320301.6_Silent_p.S1233S|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395430.1_Silent_p.S1233S|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395433.1_Silent_p.S1211S|PCDH15_ENST00000437009.1_Silent_p.S1162S|PCDH15_ENST00000395432.2_Silent_p.S1196S|PCDH15_ENST00000395445.1_Silent_p.S1240S|PCDH15_ENST00000395438.1_Silent_p.S1233S|PCDH15_ENST00000361849.3_Silent_p.S1233S|PCDH15_ENST00000414778.1_Silent_p.S1238S|PCDH15_ENST00000409834.1_Silent_p.S844S	p.S1240S	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			28	4114	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1233			Cadherin 11.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000320301.6	37	c.3720C>T	CCDS7248.1																																																																																				0.408	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		14	39	0	0	0	1	0	14	39				
MAN1B1	11253	broad.mit.edu	37	9	140001200	140001200	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr9:140001200C>G	ENST00000371589.4	+	10	1578	c.1505C>G	c.(1504-1506)tCc>tGc	p.S502C	MAN1B1_ENST00000540391.1_3'UTR|MAN1B1_ENST00000474902.1_Missense_Mutation_p.S205C	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	502					cellular protein metabolic process (GO:0044267)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		CTGCGGCACTCCGAGCCCAGT	0.632																																						ENST00000371589.4																			0				autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14						c.(1504-1506)tCc>tGc		mannosidase, alpha, class 1B, member 1							91.0	76.0	81.0					9																	140001200		2203	4300	6503	SO:0001583	missense	11253				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr9:140001200C>G	AF145732	CCDS7029.1	9q34.3	2014-05-27			ENSG00000177239	ENSG00000177239			6823	protein-coding gene	gene with protein product	"""endoplasmic reticulum alpha-mannosidase 1"", ""alpha 1,2-mannosidase"", ""endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1"", ""ER alpha 1,2-mannosidase"", ""Man9GlcNAc2-specific processing alpha-mannosidase"""	604346				10409699, 10521544	Standard	NM_016219		Approved	MANA-ER, MRT15	uc004cld.3	Q9UKM7	OTTHUMG00000020978	ENST00000371589.4:c.1505C>G	9.37:g.140001200C>G	ENSP00000360645:p.Ser502Cys					MAN1B1_ENST00000474902.1_Missense_Mutation_p.S205C|MAN1B1_ENST00000540391.1_3'UTR	p.S502C	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)	10	1578	+	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	502					Q5VSG3|Q9BRS9|Q9Y5K7	Missense_Mutation	SNP	ENST00000371589.4	37	c.1505C>G	CCDS7029.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.231955	0.79688	.	.	ENSG00000177239	ENST00000371589;ENST00000474902	D;D	0.84146	-1.81;-1.81	4.95	4.95	0.65309	.	.	.	.	.	D	0.94315	0.8173	M	0.94021	3.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.991;0.991;0.993	D	0.95799	0.8831	8	.	.	.	.	17.1467	0.86767	0.0:1.0:0.0:0.0	.	389;175;502	B4DPS9;B3KXZ1;Q9UKM7	.;.;MA1B1_HUMAN	C	502;205	ENSP00000360645:S502C;ENSP00000447256:S205C	.	S	+	2	0	MAN1B1	139121021	1.000000	0.71417	0.033000	0.17914	0.003000	0.03518	7.473000	0.81007	2.298000	0.77334	0.561000	0.74099	TCC		0.632	MAN1B1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055294.2	NM_016219		15	57	0	0	0	1	0	15	57				
ECI2	10455	broad.mit.edu	37	6	4135747	4135747	+	Silent	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:4135747C>G	ENST00000380118.3	-	1	84	c.48G>C	c.(46-48)ccG>ccC	p.P16P	RP3-400B16.1_ENST00000427049.2_lincRNA|ECI2_ENST00000413766.2_5'UTR|ECI2_ENST00000380125.2_5'Flank|RP3-400B16.4_ENST00000527831.1_RNA|ECI2_ENST00000465828.1_5'UTR|ECI2_ENST00000361538.2_5'UTR			O75521	ECI2_HUMAN	enoyl-CoA delta isomerase 2	16					fatty acid catabolic process (GO:0009062)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	dodecenoyl-CoA delta-isomerase activity (GO:0004165)|fatty-acyl-CoA binding (GO:0000062)|receptor binding (GO:0005102)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						AAGCTTACCTCGGACACGAAC	0.692																																						ENST00000380118.3																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						c.(46-48)ccG>ccC		enoyl-CoA delta isomerase 2							42.0	46.0	45.0					6																	4135747		1566	3582	5148	SO:0001819	synonymous_variant	10455				fatty acid metabolic process	mitochondrion|peroxisomal matrix	dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding	g.chr6:4135747C>G	AF069301	CCDS4490.1, CCDS43420.1, CCDS43420.2	6p24.3	2011-03-15	2011-03-15	2011-03-15	ENSG00000198721	ENSG00000198721			14601	protein-coding gene	gene with protein product	"""acyl-Coenzyme A binding domain containing 2"", "" Hepatocellular carcinoma-associated antigen 88"""	608024	"""peroxisomal D3,D2-enoyl-CoA isomerase"""	PECI		10419495	Standard	NM_206836		Approved	ACBD2, DRS1, HCA88	uc003mwf.3	O75521	OTTHUMG00000014158	ENST00000380118.3:c.48G>C	6.37:g.4135747C>G						ECI2_ENST00000361538.2_5'UTR|ECI2_ENST00000465828.1_5'UTR|RP3-400B16.4_ENST00000527831.1_RNA|ECI2_ENST00000413766.2_5'UTR	p.P16P			O75521	ECI2_HUMAN			1	84	-			16					Q5JYK5|Q5JYK7|Q7L124|Q8N0X0|Q9BUE9|Q9H0T9|Q9NQH1|Q9NYH7|Q9UN55	Silent	SNP	ENST00000380118.3	37	c.48G>C	CCDS43420.2																																																																																				0.692	ECI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039716.4	NM_006117		14	59	0	0	0	1	0	14	59				
LRRC15	131578	broad.mit.edu	37	3	194081391	194081391	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:194081391C>G	ENST00000347624.3	-	2	467	c.382G>C	c.(382-384)Gag>Cag	p.E128Q	LRRC15_ENST00000428839.1_Missense_Mutation_p.E134Q|LRRC15_ENST00000439944.2_Missense_Mutation_p.E134Q	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	128					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of cell migration (GO:0030335)|receptor-mediated virion attachment to host cell (GO:0046813)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)			biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		AGGAGAGACTCGAGGCTGTCC	0.612																																						ENST00000347624.3																			0				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(382-384)Gag>Cag		leucine rich repeat containing 15							50.0	54.0	52.0					3																	194081391		2203	4300	6503	SO:0001583	missense	131578					integral to membrane		g.chr3:194081391C>G	AB071037	CCDS3306.1, CCDS46984.1	3q29	2008-02-05			ENSG00000172061	ENSG00000172061			20818	protein-coding gene	gene with protein product						12923058	Standard	NM_001135057		Approved	LIB	uc003ftu.3	Q8TF66	OTTHUMG00000156048	ENST00000347624.3:c.382G>C	3.37:g.194081391C>G	ENSP00000306276:p.Glu128Gln					LRRC15_ENST00000428839.1_Missense_Mutation_p.E134Q|LRRC15_ENST00000439944.2_Missense_Mutation_p.E134Q	p.E128Q	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)	2	467	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		128					Q495Q6|Q7RTN7	Missense_Mutation	SNP	ENST00000347624.3	37	c.382G>C	CCDS3306.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.134827	0.56828	.	.	ENSG00000172061	ENST00000347624;ENST00000439944;ENST00000428839	T;T;T	0.55052	0.54;0.54;0.54	4.8	4.8	0.61643	.	0.000000	0.64402	D	0.000002	T	0.49218	0.1544	N	0.11560	0.145	0.46798	D	0.9992	P;D	0.61697	0.953;0.99	P;P	0.58620	0.777;0.842	T	0.44742	-0.9308	10	0.17369	T	0.5	.	18.7514	0.91818	0.0:1.0:0.0:0.0	.	128;134	Q8TF66;Q8TF66-2	LRC15_HUMAN;.	Q	128;134;134	ENSP00000306276:E128Q;ENSP00000389128:E134Q;ENSP00000413707:E134Q	ENSP00000306276:E128Q	E	-	1	0	LRRC15	195562686	0.847000	0.29606	0.957000	0.39632	0.522000	0.34438	1.628000	0.37060	2.602000	0.87976	0.462000	0.41574	GAG		0.612	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342858.2			30	71	0	0	0	1	0	30	71				
PGBD1	84547	broad.mit.edu	37	6	28268867	28268867	+	Silent	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:28268867C>G	ENST00000405948.2	+	7	1656	c.1236C>G	c.(1234-1236)ctC>ctG	p.L412L	PGBD1_ENST00000259883.3_Silent_p.L412L	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	412						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						TTTTGAATCTCAAGAGCGAAA	0.348																																						ENST00000405948.2																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						c.(1234-1236)ctC>ctG		piggyBac transposable element derived 1							70.0	76.0	74.0					6																	28268867		2199	4297	6496	SO:0001819	synonymous_variant	84547				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	g.chr6:28268867C>G	D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.1236C>G	6.37:g.28268867C>G						PGBD1_ENST00000259883.3_Silent_p.L412L	p.L412L	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN			7	1656	+			412					Q53F43|Q6NTF5|Q8WWS4	Silent	SNP	ENST00000405948.2	37	c.1236C>G	CCDS4648.1																																																																																				0.348	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2			40	77	0	0	0	1	0	40	77				
TLR9	54106	broad.mit.edu	37	3	52256285	52256285	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:52256285C>G	ENST00000360658.2	-	2	2680	c.2047G>C	c.(2047-2049)Gac>Cac	p.D683H	TLR9_ENST00000494383.1_Missense_Mutation_p.R836P|TLR9_ENST00000597542.1_Missense_Mutation_p.D707H	NM_017442.3	NP_059138.1	Q9NR96	TLR9_HUMAN	toll-like receptor 9	683					defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|maintenance of gastrointestinal epithelium (GO:0030277)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to molecule of bacterial origin (GO:0002237)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)|Hydroxychloroquine(DB01611)	CCTGCCAGGTCGAGGACTTCC	0.597																																						ENST00000597542.1																			0				endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30						c.(2119-2121)Gac>Cac		toll-like receptor 9	Chloroquine(DB00608)						58.0	66.0	63.0					3																	52256285		2203	4300	6503	SO:0001583	missense	54106				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity	g.chr3:52256285C>G	AF259262	CCDS2848.1	3p21.3	2006-02-23			ENSG00000239732	ENSG00000239732		"""CD molecules"""	15633	protein-coding gene	gene with protein product		605474				11022119	Standard	NM_017442		Approved	CD289	uc003ddb.3	Q9NR96	OTTHUMG00000158106	ENST00000360658.2:c.2047G>C	3.37:g.52256285C>G	ENSP00000353874:p.Asp683His					TLR9_ENST00000494383.1_Missense_Mutation_p.R836P|TLR9_ENST00000360658.2_Missense_Mutation_p.D683H	p.D707H			Q9NR96	TLR9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	9	3076	-			683					B3Y661|D1CS56|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	Missense_Mutation	SNP	ENST00000360658.2	37	c.2119G>C	CCDS2848.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.21|11.21	1.570468|1.570468	0.28003|0.28003	.|.	.|.	ENSG00000239732|ENSG00000173366	ENST00000360658|ENST00000494383	T|.	0.81415|.	-1.49|.	5.03|5.03	5.03|5.03	0.67393|0.67393	.|.	0.000000|.	0.39475|.	N|.	0.001348|.	T|T	0.75744|0.75744	0.3891|0.3891	M|M	0.77712|0.77712	2.385|2.385	0.40324|0.40324	D|D	0.97885|0.97885	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.78314|.	0.991;0.991|.	T|T	0.77940|0.77940	-0.2399|-0.2399	10|5	0.87932|.	D|.	0|.	.|.	15.8398|15.8398	0.78837|0.78837	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	780;683|.	B4E0A1;Q9NR96|.	.;TLR9_HUMAN|.	H|P	683|836	ENSP00000353874:D683H|.	ENSP00000353874:D683H|.	D|R	-|-	1|2	0|0	TLR9|RP11-330H6.5	52231325|52231325	0.430000|0.430000	0.25538|0.25538	0.978000|0.978000	0.43139|0.43139	0.043000|0.043000	0.13939|0.13939	1.381000|1.381000	0.34362|0.34362	2.329000|2.329000	0.79093|0.79093	0.462000|0.462000	0.41574|0.41574	GAC|CGA		0.597	TLR9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350203.1			41	108	0	0	0	1	0	41	108				
ENOX2	10495	broad.mit.edu	37	X	129822945	129822945	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:129822945G>A	ENST00000370927.1	-	3	253	c.232C>T	c.(232-234)Cca>Tca	p.P78S	ENOX2_ENST00000492263.1_5'UTR|ENOX2_ENST00000394363.1_Missense_Mutation_p.P49S|ENOX2_ENST00000370935.1_Missense_Mutation_p.P49S|ENOX2_ENST00000338144.3_Missense_Mutation_p.P78S			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	78	Pro-rich.				cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						GGCATCATTGGAGTTATTGGT	0.428																																					Ovarian(101;828 1506 2951 9500 35258)	ENST00000338144.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						c.(232-234)Cca>Tca		ecto-NOX disulfide-thiol exchanger 2							178.0	147.0	157.0					X																	129822945		2203	4300	6503	SO:0001583	missense	10495				cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity	g.chrX:129822945G>A	AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"""RNA binding motif (RRM) containing"""	2259	protein-coding gene	gene with protein product		300282	"""cytosolic ovarian carcinoma antigen 1"""	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.232C>T	X.37:g.129822945G>A	ENSP00000359965:p.Pro78Ser					ENOX2_ENST00000492263.1_5'UTR|ENOX2_ENST00000370935.1_Missense_Mutation_p.P49S|ENOX2_ENST00000394363.1_Missense_Mutation_p.P49S|ENOX2_ENST00000370927.1_Missense_Mutation_p.P78S	p.P78S	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN			6	649	-			78			Pro-rich.		A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Missense_Mutation	SNP	ENST00000370927.1	37	c.232C>T	CCDS14626.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.547692	0.86022	.	.	ENSG00000165675	ENST00000538435;ENST00000370935;ENST00000338144;ENST00000394363;ENST00000350369;ENST00000370927;ENST00000432489	.	.	.	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.76011	0.3928	M	0.63843	1.955	0.53688	D	0.999973	D	0.89917	1.0	D	0.87578	0.998	T	0.75693	-0.3229	8	.	.	.	-2.6326	15.0503	0.71862	0.0:0.0:1.0:0.0	.	78	Q16206	ENOX2_HUMAN	S	49;49;78;49;106;78;49	.	.	P	-	1	0	ENOX2	129650626	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.263000	0.95617	2.436000	0.82500	0.600000	0.82982	CCA		0.428	ENOX2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058277.1	NM_182314		34	75	0	0	0	1	0	34	75				
CASP8	841	broad.mit.edu	37	2	202149735	202149735	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:202149735C>G	ENST00000432109.2	+	9	1188	c.999C>G	c.(997-999)atC>atG	p.I333M	CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264275.5_Missense_Mutation_p.I350M|CASP8_ENST00000358485.4_Missense_Mutation_p.I392M|CASP8_ENST00000323492.7_Missense_Mutation_p.I318M|CASP8_ENST00000264274.9_Missense_Mutation_p.I249M	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	333					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						AGGCCCCCATCTATGAGCTGA	0.488										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	ENST00000358485.4																			0				breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						c.(1174-1176)atC>atG		caspase 8, apoptosis-related cysteine peptidase							149.0	130.0	136.0					2																	202149735		2203	4300	6503	SO:0001583	missense	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	g.chr2:202149735C>G	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.999C>G	2.37:g.202149735C>G	ENSP00000412523:p.Ile333Met	HNSCC(4;0.00038)				CASP8_ENST00000323492.7_Missense_Mutation_p.I318M|CASP8_ENST00000264274.9_Missense_Mutation_p.I249M|CASP8_ENST00000264275.5_Missense_Mutation_p.I350M|CASP8_ENST00000432109.2_Missense_Mutation_p.I333M|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR	p.I392M	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN			8	1372	+			333					O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	ENST00000432109.2	37	c.1176C>G	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.493915	0.44352	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000432109;ENST00000264275;ENST00000358485;ENST00000323492;ENST00000444430	T;T;T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92;1.92;1.92	5.68	2.89	0.33648	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	0.103055	0.64402	D	0.000004	T	0.49287	0.1548	M	0.84948	2.725	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.996;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.996;0.988;0.998;0.998	T	0.43956	-0.9359	10	0.72032	D	0.01	.	6.3892	0.21577	0.2633:0.6035:0.0:0.1332	.	249;392;333;318;350	Q14790-3;Q14790-9;Q14790;Q14790-2;Q14790-4	.;.;CASP8_HUMAN;.;.	M	318;249;333;350;392;318;112	ENSP00000376091:I318M;ENSP00000264274:I249M;ENSP00000412523:I333M;ENSP00000264275:I350M;ENSP00000351273:I392M;ENSP00000325722:I318M;ENSP00000394434:I112M	ENSP00000264274:I249M	I	+	3	3	CASP8	201857980	0.090000	0.21635	0.338000	0.25549	0.423000	0.31445	0.612000	0.24283	0.334000	0.23590	-1.045000	0.02358	ATC		0.488	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		43	101	0	0	0	1	0	43	101				
DDX39B	7919	broad.mit.edu	37	6	31508147	31508147	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:31508147C>G	ENST00000396172.1	-	2	793	c.163G>C	c.(163-165)Gag>Cag	p.E55Q	DDX39B_ENST00000453105.2_Missense_Mutation_p.Q50H|ATP6V1G2-DDX39B_ENST00000475917.1_5'Flank|DDX39B_ENST00000417556.2_Missense_Mutation_p.E55Q|DDX39B_ENST00000415382.2_Missense_Mutation_p.Q50H|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B-AS1_ENST00000420520.1_RNA|DDX39B_ENST00000449074.2_Missense_Mutation_p.E55Q|DDX39B-AS1_ENST00000416684.1_RNA|DDX39B_ENST00000376177.2_Missense_Mutation_p.E55Q|DDX39B_ENST00000458640.1_Missense_Mutation_p.E55Q|SNORD84_ENST00000584275.1_RNA	NM_004640.6	NP_004631.1	Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	55					ATP catabolic process (GO:0006200)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|RNA secondary structure unwinding (GO:0010501)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|transcription export complex (GO:0000346)	ATP binding (GO:0005524)|ATP-dependent protein binding (GO:0043008)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)|RNA-dependent ATPase activity (GO:0008186)|U4 snRNA binding (GO:0030621)|U6 snRNA binding (GO:0017070)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						CGGAGCAACTCTGGCTTGAGC	0.537																																						ENST00000417556.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(163-165)Gag>Cag		DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B							69.0	69.0	69.0					6																	31508147		2203	4300	6503	SO:0001583	missense	7919				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding	g.chr6:31508147C>G	Z37166	CCDS4697.1	6p21.33	2011-02-09	2011-02-08	2011-02-08	ENSG00000198563	ENSG00000198563		"""DEAD-boxes"""	13917	protein-coding gene	gene with protein product	"""U2AF65-associated protein 56"""	142560	"""HLA-B associated transcript 1"""	BAT1		7601445, 2813433	Standard	NM_004640		Approved	D6S81E, UAP56	uc003ntu.3	Q13838	OTTHUMG00000031165	ENST00000396172.1:c.163G>C	6.37:g.31508147C>G	ENSP00000379475:p.Glu55Gln					DDX39B_ENST00000415382.2_Missense_Mutation_p.Q50H|DDX39B_ENST00000396172.1_Missense_Mutation_p.E55Q|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000376177.2_Missense_Mutation_p.E55Q|DDX39B_ENST00000453105.2_Missense_Mutation_p.Q50H|DDX39B_ENST00000449074.2_Missense_Mutation_p.E55Q|DDX39B_ENST00000458640.1_Missense_Mutation_p.E55Q	p.E55Q			Q13838	DX39B_HUMAN			2	793	-			55					B0S8C0|O43496|Q0EFA1|Q2L6F9|Q53GL9|Q5RJ64|Q5RJ66|Q5ST94|Q5STB4|Q5STB5|Q5STB7|Q5STB8|Q5STU4|Q5STU5|Q5STU6|Q5STU8|Q71V76	Missense_Mutation	SNP	ENST00000396172.1	37	c.163G>C	CCDS4697.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.694034|5.694034	0.96793|0.96793	.|.	.|.	ENSG00000198563|ENSG00000198563	ENST00000376177;ENST00000458640;ENST00000396172;ENST00000417556;ENST00000427214;ENST00000428098;ENST00000419338;ENST00000456662;ENST00000449074;ENST00000428450;ENST00000449757;ENST00000456976;ENST00000418897;ENST00000419020;ENST00000458215|ENST00000415382;ENST00000431908;ENST00000453105	T;T;T;T;T;T;T;T;T;T;T;T;T;T|T;T;T	0.55760|0.49720	0.5;0.5;0.5;0.5;0.5;0.5;0.5;0.5;0.5;0.5;0.5;0.5;0.5;0.5|0.77;2.44;3.29	5.53|5.53	5.53|5.53	0.82687|0.82687	RNA helicase, DEAD-box type, Q motif (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69214|0.69214	0.3086|0.3086	M|M	0.91090|0.91090	3.175|3.175	0.80722|0.80722	D|D	1|1	D;D;D|D;P;P	0.89917|0.61697	0.981;1.0;1.0|0.99;0.918;0.881	P;D;D|P;P;P	0.81914|0.62649	0.477;0.995;0.978|0.905;0.694;0.866	T|T	0.76661|0.76661	-0.2877|-0.2877	10|9	0.87932|0.72032	D|D	0|0.01	-25.198|-25.198	16.951|16.951	0.86245|0.86245	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	75;55;55|50;50;50	Q59G92;Q13838;Q5STU3|B4DIZ8;B4DIJ6;B4DP52	.;DX39B_HUMAN;.|.;.;.	Q|H	55;55;55;55;55;55;55;55;55;55;78;55;70;55;55|50	ENSP00000365347:E55Q;ENSP00000416269:E55Q;ENSP00000379475:E55Q;ENSP00000412582:E55Q;ENSP00000399371:E55Q;ENSP00000392672:E55Q;ENSP00000410313:E55Q;ENSP00000416350:E55Q;ENSP00000391946:E55Q;ENSP00000405707:E55Q;ENSP00000409426:E78Q;ENSP00000393984:E55Q;ENSP00000399841:E70Q;ENSP00000405245:E55Q|ENSP00000392669:Q50H;ENSP00000408000:Q50H;ENSP00000400328:Q50H	ENSP00000365347:E55Q|ENSP00000392669:Q50H	E|Q	-|-	1|3	0|2	DDX39B|DDX39B	31616126|31616126	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.242000|7.242000	0.78210|0.78210	2.592000|2.592000	0.87571|0.87571	0.563000|0.563000	0.77884|0.77884	GAG|CAG		0.537	DDX39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259083.1	NM_004640		24	66	0	0	0	1	0	24	66				
FGFR1	2260	broad.mit.edu	37	8	38315005	38315005	+	5'UTR	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr8:38315005C>G	ENST00000447712.2	-	0	901				FGFR1_ENST00000397091.5_5'UTR|FGFR1_ENST00000397113.2_5'UTR|FGFR1_ENST00000397103.1_5'UTR|FGFR1_ENST00000532791.1_5'UTR|FGFR1_ENST00000356207.5_5'UTR|FGFR1_ENST00000397108.4_5'UTR|FGFR1_ENST00000425967.3_Missense_Mutation_p.R20T|FGFR1_ENST00000341462.5_5'UTR|FGFR1_ENST00000326324.6_5'UTR|FGFR1_ENST00000335922.5_5'UTR	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1						angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	GGCTCCACATCTCCATGGATA	0.537		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""																														Melanoma(146;1153 1840 21453 21841 43625)	ENST00000425967.3		1		Dom	yes		8	8p11.2-p11.1	2260	T	fibroblast growth factor receptor 1	yes	"""Pfeiffer syndrome, Kallman syndrome"""	L	"""BCR, FOP, ZNF198, CEP1"""		"""MPD, NHL"""	FGFR1/ZNF703(2)	0				breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50						c.(58-60)aGa>aCa		fibroblast growth factor receptor 1	Palifermin(DB00039)						53.0	46.0	49.0					8																	38315005		2202	4300	6502	SO:0001623	5_prime_UTR_variant	2260				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity	g.chr8:38315005C>G	M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3688	protein-coding gene	gene with protein product	"""Pfeiffer syndrome"""	136350	"""fms-related tyrosine kinase 2"""	FLT2, KAL2		2162671	Standard	NM_015850		Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000447712.2:c.-41G>C	8.37:g.38315005C>G						FGFR1_ENST00000447712.2_5'UTR|FGFR1_ENST00000397103.1_5'UTR|FGFR1_ENST00000397113.2_5'UTR|FGFR1_ENST00000356207.5_5'UTR|FGFR1_ENST00000341462.5_5'UTR|FGFR1_ENST00000335922.5_5'UTR|FGFR1_ENST00000532791.1_5'UTR|FGFR1_ENST00000397091.5_5'UTR|FGFR1_ENST00000326324.6_5'UTR|FGFR1_ENST00000397108.4_5'UTR	p.R20T	NM_001174067.1	NP_001167538.1	P11362	FGFR1_HUMAN	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		3	381	-	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	0					A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Missense_Mutation	SNP	ENST00000447712.2	37	c.59G>C	CCDS6107.2	.	.	.	.	.	.	.	.	.	.	C	11.93	1.785639	0.31593	.	.	ENSG00000077782	ENST00000425967	T	0.78924	-1.22	5.46	5.46	0.80206	.	.	.	.	.	T	0.72724	0.3496	.	.	.	0.80722	D	1	B	0.14012	0.009	B	0.08055	0.003	T	0.69540	-0.5118	8	0.66056	D	0.02	.	16.2286	0.82318	0.0:1.0:0.0:0.0	.	20	P11362-21	.	T	20	ENSP00000393312:R20T	ENSP00000393312:R20T	R	-	2	0	FGFR1	38434162	1.000000	0.71417	1.000000	0.80357	0.572000	0.35998	4.678000	0.61641	2.562000	0.86427	0.462000	0.41574	AGA		0.537	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				8	23	0	0	0	1	0	8	23				
HCAR3	8843	broad.mit.edu	37	12	123201043	123201043	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:123201043G>T	ENST00000528880.2	-	1	396	c.242C>A	c.(241-243)cCg>cAg	p.P81Q	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3	81					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Niacin(DB00627)	CATCACGAACGGCAGGCAGAT	0.537																																						ENST00000528880.2																			0				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9						c.(241-243)cCg>cAg		hydroxycarboxylic acid receptor 3	Mepenzolate(DB04843)|Niacin(DB00627)						55.0	56.0	56.0					12																	123201043		2203	4300	6503	SO:0001583	missense	8843					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr12:123201043G>T	D10923	CCDS53842.1	12q24.31	2012-08-08	2011-05-30	2011-05-30		ENSG00000255398		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	16824	protein-coding gene	gene with protein product		606039	"""G protein-coupled receptor 109B"""	GPR109B		7505609, 9205127, 18983141, 21454438	Standard	NM_006018		Approved	HCA3, HM74	uc001ucy.4	P49019		ENST00000528880.2:c.242C>A	12.37:g.123201043G>T	ENSP00000436714:p.Pro81Gln					HCAR1_ENST00000356987.2_Intron	p.P81Q	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN			1	396	-			81					A8K4G5|B2R830|E9PI97|Q8NGE4	Missense_Mutation	SNP	ENST00000528880.2	37	c.242C>A	CCDS53842.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.923440	0.33908	.	.	ENSG00000255398	ENST00000528880	T	0.73897	-0.79	3.27	3.27	0.37495	.	.	.	.	.	D	0.89037	0.6601	H	0.97635	4.045	0.37603	D	0.920631	D	0.89917	1.0	D	0.97110	1.0	D	0.90096	0.4181	9	0.87932	D	0	.	6.7781	0.23630	0.1381:0.0:0.8619:0.0	.	81	E9PI97	.	Q	81	ENSP00000436714:P81Q	ENSP00000436714:P81Q	P	-	2	0	HCAR3	121766996	1.000000	0.71417	0.553000	0.28255	0.026000	0.11368	7.826000	0.86716	1.521000	0.48983	0.184000	0.17185	CCG		0.537	HCAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387549.2	NM_006018		18	34	1	0	2.35188e-11	1	2.47651e-11	18	34				
MAP1S	55201	broad.mit.edu	37	19	17837872	17837872	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:17837872C>T	ENST00000324096.4	+	5	1830	c.1679C>T	c.(1678-1680)cCc>cTc	p.P560L	MAP1S_ENST00000544059.2_Missense_Mutation_p.P534L|MAP1S_ENST00000597681.1_Intron|CTD-3149D2.4_ENST00000595363.1_RNA	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	560	Necessary for the microtubule-organizing center localization.|Pro-rich.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						CAGGCGGCACCCAAGCCCCGC	0.687																																						ENST00000324096.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						c.(1678-1680)cCc>cTc		microtubule-associated protein 1S							9.0	15.0	13.0					19																	17837872		2143	4221	6364	SO:0001583	missense	55201				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding	g.chr19:17837872C>T	BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"""chromosome 19 open reading frame 5"", ""VCY2 interacting protein 1"", ""BPY2 interacting protein 1"""	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.1679C>T	19.37:g.17837872C>T	ENSP00000325313:p.Pro560Leu					MAP1S_ENST00000597681.1_Intron|MAP1S_ENST00000544059.2_Missense_Mutation_p.P534L	p.P560L	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN			5	1830	+			560			Necessary for the microtubule-organizing center localization.|Pro-rich.		B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Missense_Mutation	SNP	ENST00000324096.4	37	c.1679C>T	CCDS32954.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.465533	0.26335	.	.	ENSG00000130479	ENST00000324096;ENST00000544059	T;T	0.17213	2.3;2.29	3.94	-1.37	0.09056	.	1.086140	0.07210	N	0.858966	T	0.10465	0.0256	L	0.29908	0.895	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.37865	-0.9687	10	0.52906	T	0.07	-9.8847	1.0276	0.01531	0.1557:0.3984:0.1527:0.2932	.	534;560;560	B4DH53;A8K940;Q66K74	.;.;MAP1S_HUMAN	L	560;534	ENSP00000325313:P560L;ENSP00000439243:P534L	ENSP00000325313:P560L	P	+	2	0	MAP1S	17698872	0.243000	0.23878	0.000000	0.03702	0.009000	0.06853	1.063000	0.30567	-0.526000	0.06383	-0.424000	0.05967	CCC		0.687	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	NM_018174		4	8	0	0	0	1	0	4	8				
BIRC6	57448	broad.mit.edu	37	2	32728184	32728184	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:32728184C>T	ENST00000421745.2	+	49	9514	c.9380C>T	c.(9379-9381)tCa>tTa	p.S3127L		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3127					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AGTATGGTATCAACTATTATG	0.353																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.(9379-9381)tCa>tTa		baculoviral IAP repeat containing 6							111.0	112.0	112.0					2																	32728184		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32728184C>T	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.9380C>T	2.37:g.32728184C>T	ENSP00000393596:p.Ser3127Leu						p.S3127L	NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			49	9514	+	Acute lymphoblastic leukemia(172;0.155)		3127					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.9380C>T	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	24.5	4.536292	0.85812	.	.	ENSG00000115760	ENST00000421745	D	0.84223	-1.82	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.89497	0.6732	L	0.34521	1.04	0.80722	D	1	D	0.63880	0.993	D	0.72338	0.977	D	0.89725	0.3922	10	0.87932	D	0	.	20.6282	0.99521	0.0:1.0:0.0:0.0	.	3127	Q9NR09	BIRC6_HUMAN	L	3127	ENSP00000393596:S3127L	ENSP00000393596:S3127L	S	+	2	0	BIRC6	32581688	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.814000	0.86154	2.871000	0.98454	0.655000	0.94253	TCA		0.353	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		9	14	0	0	0	1	0	9	14				
ADAMTS20	80070	broad.mit.edu	37	12	43823505	43823505	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:43823505G>A	ENST00000389420.3	-	24	3403	c.3404C>T	c.(3403-3405)tCa>tTa	p.S1135L	ADAMTS20_ENST00000395541.2_Intron|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.S1135L	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1135	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AGAAATAAATGAGCAAGGTGT	0.343																																						ENST00000389420.3																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(3403-3405)tCa>tTa		ADAM metallopeptidase with thrombospondin type 1 motif, 20							53.0	50.0	51.0					12																	43823505		2202	4298	6500	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43823505G>A	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.3404C>T	12.37:g.43823505G>A	ENSP00000374071:p.Ser1135Leu					ADAMTS20_ENST00000395541.2_Intron|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.S1135L	p.S1135L	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	24	3403	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	1135			TSP type-1 6.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.3404C>T	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	G	4.013	-0.000251	0.07819	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.61859	0.25;0.07	4.69	2.85	0.33270	.	0.429234	0.19546	N	0.111689	T	0.29783	0.0744	N	0.03029	-0.43	0.21579	N	0.99964	B	0.02656	0.0	B	0.01281	0.0	T	0.17531	-1.0366	10	0.34782	T	0.22	.	8.8608	0.35256	0.1701:0.0:0.8299:0.0	.	1135	P59510	ATS20_HUMAN	L	1135	ENSP00000374071:S1135L;ENSP00000448341:S1135L	ENSP00000374068:S1135L	S	-	2	0	ADAMTS20	42109772	0.996000	0.38824	0.159000	0.22649	0.022000	0.10575	2.685000	0.46959	0.656000	0.30886	0.591000	0.81541	TCA		0.343	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		4	7	0	0	0	1	0	4	7				
ZNF630	57232	broad.mit.edu	37	X	47917923	47917923	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:47917923G>A	ENST00000409324.3	-	5	2134	c.1908C>T	c.(1906-1908)ttC>ttT	p.F636F	ZNF630_ENST00000442455.3_Silent_p.F622F|ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000276054.4_Silent_p.F512F	NM_001037735.2	NP_001032824.2	Q2M218	ZN630_HUMAN	zinc finger protein 630	636					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						CATGCTGGCAGAATGCCTTCC	0.443																																						ENST00000276054.4																			0				endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						c.(1534-1536)ttC>ttT		zinc finger protein 630							75.0	58.0	64.0					X																	47917923		2195	4288	6483	SO:0001819	synonymous_variant	57232				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:47917923G>A	AK000580	CCDS35237.2, CCDS75971.1	Xp11.3-p11.1	2013-01-08			ENSG00000221994	ENSG00000221994		"""Zinc fingers, C2H2-type"", ""-"""	28855	protein-coding gene	gene with protein product		300819					Standard	NM_001037735		Approved	BC037316, dJ54B20.2, FLJ20573, MGC138344	uc004div.4	Q2M218	OTTHUMG00000021463	ENST00000409324.3:c.1908C>T	X.37:g.47917923G>A						ZNF630_ENST00000409324.3_Silent_p.F636F|ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000442455.3_Silent_p.F622F	p.F512F			Q2M218	ZN630_HUMAN			5	2470	-			636					F8WAG4|Q5H8Z5	Silent	SNP	ENST00000409324.3	37	c.1536C>T	CCDS35237.2																																																																																				0.443	ZNF630-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327254.1	NM_001037735		15	42	0	0	0	1	0	15	42				
USP3	9960	broad.mit.edu	37	15	63883006	63883006	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr15:63883006C>G	ENST00000380324.3	+	15	1673	c.1544C>G	c.(1543-1545)gCt>gGt	p.A515G	USP3_ENST00000539772.1_Missense_Mutation_p.A266G|USP3_ENST00000268049.7_Missense_Mutation_p.A493G|USP3_ENST00000559711.1_Missense_Mutation_p.A426G|USP3-AS1_ENST00000561191.1_RNA|USP3-AS1_ENST00000559861.1_RNA|USP3-AS1_ENST00000558831.1_RNA|USP3-AS1_ENST00000560962.1_RNA|USP3_ENST00000558285.1_Missense_Mutation_p.A498G|USP3-AS1_ENST00000559357.1_RNA|USP3-AS1_ENST00000560350.1_RNA|USP3-AS1_ENST00000560622.1_RNA|USP3_ENST00000558218.1_3'UTR|USP3-AS1_ENST00000559737.1_RNA|USP3_ENST00000540797.1_Missense_Mutation_p.A471G|USP3-AS1_ENST00000561256.1_RNA	NM_006537.3	NP_006528.2	Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	515					DNA repair (GO:0006281)|histone deubiquitination (GO:0016578)|mitotic cell cycle (GO:0000278)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear chromatin (GO:0000790)	histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		CAGGCCAAAGCTGGATCGGAT	0.423																																						ENST00000268049.7																			0				endometrium(3)|large_intestine(7)|lung(4)	14						c.(1477-1479)gCt>gGt		ubiquitin specific peptidase 3							132.0	117.0	122.0					15																	63883006		2203	4300	6503	SO:0001583	missense	9960				DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr15:63883006C>G	AF073344	CCDS32265.1, CCDS58370.1	15q22.3	2008-04-11	2005-08-08			ENSG00000140455		"""Ubiquitin-specific peptidases"""	12626	protein-coding gene	gene with protein product		604728	"""ubiquitin specific protease 3"""			12838346	Standard	NM_006537		Approved		uc002amf.4	Q9Y6I4		ENST00000380324.3:c.1544C>G	15.37:g.63883006C>G	ENSP00000369681:p.Ala515Gly					USP3_ENST00000540797.1_Missense_Mutation_p.A471G|USP3_ENST00000539772.1_Missense_Mutation_p.A266G|USP3-AS1_ENST00000559737.1_RNA|USP3_ENST00000380324.3_Missense_Mutation_p.A515G|USP3_ENST00000559711.1_Missense_Mutation_p.A426G|USP3_ENST00000558285.1_Missense_Mutation_p.A498G|USP3-AS1_ENST00000558831.1_RNA|USP3_ENST00000558218.1_3'UTR|USP3-AS1_ENST00000561256.1_RNA|USP3-AS1_ENST00000560962.1_RNA|USP3-AS1_ENST00000559861.1_RNA	p.A493G			Q9Y6I4	UBP3_HUMAN		GBM - Glioblastoma multiforme(80;0.0187)	16	1802	+			515					B4DVU5|F5H1A6|Q8WVD0	Missense_Mutation	SNP	ENST00000380324.3	37	c.1478C>G	CCDS32265.1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.277858	0.40294	.	.	ENSG00000140455	ENST00000540797;ENST00000380324;ENST00000268049;ENST00000539772	T;T;T;T	0.32272	1.99;2.1;2.2;1.46	6.07	6.07	0.98685	.	0.321857	0.37906	N	0.001900	T	0.23330	0.0564	N	0.16602	0.42	0.20703	N	0.999868	B;B;B;B	0.22683	0.073;0.044;0.02;0.012	B;B;B;B	0.21151	0.033;0.014;0.024;0.014	T	0.09997	-1.0649	10	0.20046	T	0.44	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	471;471;493;515	F5H1A6;B4DVU5;Q6JHV3;Q9Y6I4	.;.;.;UBP3_HUMAN	G	471;515;493;266	ENSP00000445828:A471G;ENSP00000369681:A515G;ENSP00000268049:A493G;ENSP00000445642:A266G	ENSP00000268049:A493G	A	+	2	0	USP3	61670059	0.983000	0.35010	1.000000	0.80357	0.998000	0.95712	4.155000	0.58131	2.884000	0.98904	0.655000	0.94253	GCT		0.423	USP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417773.1			36	100	0	0	0	1	0	36	100				
GAD2	2572	broad.mit.edu	37	10	26581864	26581864	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr10:26581864C>T	ENST00000376261.3	+	15	2031	c.1528C>T	c.(1528-1530)Cct>Tct	p.P510S	GAD2_ENST00000259271.3_Missense_Mutation_p.P510S	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	510					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CTGGTACATTCCTCCAAGCTT	0.453																																						ENST00000376261.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(1528-1530)Cct>Tct		glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	L-Glutamic Acid(DB00142)						229.0	230.0	229.0					10																	26581864		2203	4300	6503	SO:0001583	missense	2572				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr10:26581864C>T	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"""glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"""			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.1528C>T	10.37:g.26581864C>T	ENSP00000365437:p.Pro510Ser					GAD2_ENST00000259271.3_Missense_Mutation_p.P510S	p.P510S	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN			15	2031	+			510					Q9UD87	Missense_Mutation	SNP	ENST00000376261.3	37	c.1528C>T	CCDS7149.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.804283	0.70682	.	.	ENSG00000136750	ENST00000376261;ENST00000259271	T;T	0.42131	0.98;0.98	5.22	5.22	0.72569	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.74321	0.3701	H	0.94183	3.505	0.80722	D	1	D	0.76494	0.999	D	0.66716	0.946	T	0.82892	-0.0232	10	0.87932	D	0	-12.6415	18.7903	0.91971	0.0:1.0:0.0:0.0	.	510	Q05329	DCE2_HUMAN	S	510	ENSP00000365437:P510S;ENSP00000259271:P510S	ENSP00000259271:P510S	P	+	1	0	GAD2	26621870	1.000000	0.71417	0.932000	0.37286	0.226000	0.24999	7.487000	0.81328	2.430000	0.82344	0.655000	0.94253	CCT		0.453	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		85	221	0	0	0	1	0	85	221				
ACRC	93953	broad.mit.edu	37	X	70824220	70824220	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:70824220G>C	ENST00000373695.1	+	7	1630	c.1093G>C	c.(1093-1095)Gat>Cat	p.D365H	ACRC_ENST00000373696.3_Missense_Mutation_p.D365H			Q96QF7	ACRC_HUMAN	acidic repeat containing	365						nucleus (GO:0005634)		p.D365N(1)		autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					CTCCCAGCATGATTCATCTGA	0.483																																						ENST00000373695.1																			1	Substitution - Missense(1)	p.D365N(1)	large_intestine(1)	autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54						c.(1093-1095)Gat>Cat		acidic repeat containing							70.0	56.0	60.0					X																	70824220		2203	4300	6503	SO:0001583	missense	93953					nucleus		g.chrX:70824220G>C	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.1093G>C	X.37:g.70824220G>C	ENSP00000362799:p.Asp365His					ACRC_ENST00000373696.3_Missense_Mutation_p.D365H	p.D365H			Q96QF7	ACRC_HUMAN			7	1630	+	Renal(35;0.156)		365					B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	c.1093G>C	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	G	7.251	0.603158	0.13939	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.34275	1.37;1.37	3.17	0.778	0.18543	.	.	.	.	.	T	0.22820	0.0551	N	0.14661	0.345	0.09310	N	1	D	0.56521	0.976	P	0.46917	0.531	T	0.10177	-1.0641	9	0.56958	D	0.05	.	4.4513	0.11621	0.6807:0.0:0.3193:0.0	.	365	Q96QF7	ACRC_HUMAN	H	365	ENSP00000362800:D365H;ENSP00000362799:D365H	ENSP00000362799:D365H	D	+	1	0	ACRC	70740945	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.279000	0.08479	0.066000	0.16515	-0.370000	0.07254	GAT		0.483	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			14	48	0	0	0	1	0	14	48				
GOLGA4	2803	broad.mit.edu	37	3	37368485	37368485	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:37368485C>T	ENST00000361924.2	+	14	5482	c.5108C>T	c.(5107-5109)tCa>tTa	p.S1703L	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.S1725L	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1703	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGTTCACAGTCAGAAACATTA	0.383																																						ENST00000361924.2																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(5107-5109)tCa>tTa		golgin A4							110.0	119.0	116.0					3																	37368485		2202	4297	6499	SO:0001583	missense	2803				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37368485C>T	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.5108C>T	3.37:g.37368485C>T	ENSP00000354486:p.Ser1703Leu					GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.S1725L	p.S1703L	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN			14	5482	+			1703			Glu-rich.		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	c.5108C>T	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	C	6.310	0.425293	0.11987	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	T;T;T	0.23950	1.88;1.88;1.88	4.39	3.51	0.40186	.	0.311045	0.17953	N	0.156453	T	0.17408	0.0418	L	0.46157	1.445	0.09310	N	1	P;P;P;B	0.34724	0.465;0.465;0.465;0.001	B;B;B;B	0.31101	0.124;0.124;0.124;0.002	T	0.08848	-1.0702	10	0.31617	T	0.26	.	4.5111	0.11912	0.0:0.7558:0.0:0.2442	.	1703;1703;1725;1703	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	L	1703;1725;1574	ENSP00000354486:S1703L;ENSP00000349305:S1725L;ENSP00000405842:S1574L	ENSP00000349305:S1725L	S	+	2	0	GOLGA4	37343489	0.245000	0.23899	0.067000	0.19924	0.110000	0.19582	2.394000	0.44450	2.397000	0.81536	0.561000	0.74099	TCA		0.383	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		64	177	0	0	0	1	0	64	177				
FAM47A	158724	broad.mit.edu	37	X	34149229	34149229	+	Silent	SNP	C	C	T	rs201772377		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:34149229C>T	ENST00000346193.3	-	1	1218	c.1167G>A	c.(1165-1167)ccG>ccA	p.P389P		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	389										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TGGGAGGCTCCGGGCTGAGAT	0.622																																						ENST00000346193.3																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						c.(1165-1167)ccG>ccA		family with sequence similarity 47, member A							44.0	44.0	44.0					X																	34149229		2201	4299	6500	SO:0001819	synonymous_variant	158724							g.chrX:34149229C>T	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1167G>A	X.37:g.34149229C>T							p.P389P	NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN			1	1218	-			389					A8K8I9|Q8TAA0	Silent	SNP	ENST00000346193.3	37	c.1167G>A	CCDS43926.1																																																																																				0.622	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		26	99	0	0	0	1	0	26	99				
PCNA	5111	broad.mit.edu	37	20	5096200	5096200	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr20:5096200C>T	ENST00000379160.3	-	6	843	c.601G>A	c.(601-603)Gaa>Aaa	p.E201K	TMEM230_ENST00000379277.2_5'Flank|Y_RNA_ENST00000516558.1_RNA|PCNA_ENST00000379143.5_Missense_Mutation_p.E201K|TMEM230_ENST00000379279.2_5'Flank|TMEM230_ENST00000492419.1_5'Flank|TMEM230_ENST00000202834.7_5'Flank|TMEM230_ENST00000342308.5_5'Flank|TMEM230_ENST00000379286.2_5'Flank|TMEM230_ENST00000379283.2_5'Flank	NM_002592.2	NP_002583.1	P12004	PCNA_HUMAN	proliferating cell nuclear antigen	201					base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|epithelial cell differentiation (GO:0030855)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|leading strand elongation (GO:0006272)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of deoxyribonuclease activity (GO:0032077)|regulation of DNA replication (GO:0006275)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|response to cadmium ion (GO:0046686)|response to lipid (GO:0033993)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)|translesion synthesis (GO:0019985)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|nuclear replication fork (GO:0043596)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCNA complex (GO:0043626)|PCNA-p21 complex (GO:0070557)	dinucleotide insertion or deletion binding (GO:0032139)|DNA polymerase binding (GO:0070182)|DNA polymerase processivity factor activity (GO:0030337)|identical protein binding (GO:0042802)|MutLalpha complex binding (GO:0032405)|purine-specific mismatch base pair DNA N-glycosylase activity (GO:0000701)|receptor tyrosine kinase binding (GO:0030971)			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)	9						TGAACTGGTTCATTCATCTCT	0.358								DNA polymerases (catalytic subunits)																														ENST00000379160.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(2)	9						c.(601-603)Gaa>Aaa	DNA polymerases (catalytic subunits)	proliferating cell nuclear antigen							115.0	112.0	113.0					20																	5096200		2203	4300	6503	SO:0001583	missense	5111				cell proliferation|DNA strand elongation involved in DNA replication|mismatch repair|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|positive regulation of deoxyribonuclease activity|regulation of DNA replication|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair|translesion synthesis	cytoplasm|DNA replication factor C complex|microtubule cytoskeleton|nuclear replication fork|nucleoplasm|PCNA complex|PCNA-p21 complex	dinucleotide insertion or deletion binding|DNA polymerase processivity factor activity|MutLalpha complex binding|purine-specific mismatch base pair DNA N-glycosylase activity	g.chr20:5096200C>T	J04718	CCDS13087.1	20p13-p12.3	2013-09-19			ENSG00000132646	ENSG00000132646			8729	protein-coding gene	gene with protein product		176740				2565339	Standard	NM_002592		Approved		uc002wlp.3	P12004	OTTHUMG00000031798	ENST00000379160.3:c.601G>A	20.37:g.5096200C>T	ENSP00000368458:p.Glu201Lys					PCNA_ENST00000379143.5_Missense_Mutation_p.E201K	p.E201K	NM_002592.2	NP_002583.1	P12004	PCNA_HUMAN			6	843	-			201					B2R897|D3DW02	Missense_Mutation	SNP	ENST00000379160.3	37	c.601G>A	CCDS13087.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.387572	0.82902	.	.	ENSG00000132646	ENST00000379143;ENST00000379160	.	.	.	5.44	4.49	0.54785	Proliferating cell nuclear antigen, PCNA, C-terminal (1);	0.047947	0.85682	D	0.000000	T	0.69993	0.3173	M	0.82132	2.575	0.80722	D	1	P	0.45176	0.852	P	0.46659	0.523	T	0.74867	-0.3518	9	0.59425	D	0.04	-14.1201	14.3604	0.66768	0.1492:0.8508:0.0:0.0	.	201	P12004	PCNA_HUMAN	K	201	.	ENSP00000368438:E201K	E	-	1	0	PCNA	5044200	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.676000	0.84012	1.274000	0.44362	0.462000	0.41574	GAA		0.358	PCNA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077852.2			26	62	0	0	0	1	0	26	62				
CASC5	57082	broad.mit.edu	37	15	40915073	40915073	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr15:40915073G>A	ENST00000346991.5	+	11	3079	c.2689G>A	c.(2689-2691)Gat>Aat	p.D897N	CASC5_ENST00000399668.2_Missense_Mutation_p.D871N|CASC5_ENST00000527044.1_3'UTR			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	897	2 X 104 AA approximate repeats.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		CGATAAGAATGATATGGATAT	0.333																																						ENST00000346991.5																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(2689-2691)Gat>Aat		cancer susceptibility candidate 5							71.0	69.0	69.0					15																	40915073		1828	4074	5902	SO:0001583	missense	57082				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	g.chr15:40915073G>A	AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.2689G>A	15.37:g.40915073G>A	ENSP00000335463:p.Asp897Asn					CASC5_ENST00000527044.1_3'UTR|CASC5_ENST00000399668.2_Missense_Mutation_p.D871N	p.D897N			Q8NG31	CASC5_HUMAN		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)	11	3079	+		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	897			2 X 104 AA approximate repeats.		Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	37	c.2689G>A	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.641812	0.67244	.	.	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000399668	T;T	0.18016	2.24;2.24	5.09	3.17	0.36434	.	0.129376	0.35124	N	0.003440	T	0.30603	0.0770	M	0.75777	2.31	0.24072	N	0.99598	P;P;P	0.46142	0.703;0.703;0.873	B;B;P	0.52710	0.342;0.342;0.707	T	0.06215	-1.0839	10	0.33940	T	0.23	.	11.3309	0.49475	0.1539:0.0:0.8461:0.0	.	871;897;871	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	N	897;871;871	ENSP00000335463:D897N;ENSP00000382576:D871N	ENSP00000260369:D871N	D	+	1	0	CASC5	38702365	0.992000	0.36948	1.000000	0.80357	0.958000	0.62258	1.098000	0.31000	1.134000	0.42165	0.557000	0.71058	GAT		0.333	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508		27	66	0	0	0	1	0	27	66				
MAGI3	260425	broad.mit.edu	37	1	114201756	114201756	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:114201756G>A	ENST00000307546.9	+	16	2759	c.2684G>A	c.(2683-2685)gGa>gAa	p.G895E	MAGI3_ENST00000369611.4_Missense_Mutation_p.G895E|MAGI3_ENST00000369615.1_Missense_Mutation_p.G895E|MAGI3_ENST00000369617.4_Missense_Mutation_p.G920E	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	920	Interaction with LPAR2 and GRIN2B.|PDZ 5. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GACCGCTGTGGAAAACTGAAA	0.408																																						ENST00000369615.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(2683-2685)gGa>gAa		membrane associated guanylate kinase, WW and PDZ domain containing 3							141.0	137.0	138.0					1																	114201756		2203	4300	6503	SO:0001583	missense	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114201756G>A	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.2684G>A	1.37:g.114201756G>A	ENSP00000304604:p.Gly895Glu					MAGI3_ENST00000307546.9_Missense_Mutation_p.G895E|MAGI3_ENST00000369617.4_Missense_Mutation_p.G920E|MAGI3_ENST00000369611.4_Missense_Mutation_p.G895E	p.G895E	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	16	2746	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	920			Interaction with LPAR2 and GRIN2B.|PDZ 5.		Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	ENST00000307546.9	37	c.2684G>A	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	G	34	5.393236	0.96009	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	6.17	6.17	0.99709	.	0.049506	0.85682	D	0.000000	T	0.66548	0.2800	M	0.84511	2.7	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.999	D;D;D	0.70935	0.971;0.959;0.969	T	0.69049	-0.5248	10	0.87932	D	0	-20.2648	20.8794	0.99867	0.0:0.0:1.0:0.0	.	895;895;920	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	E	920;895;895;895	ENSP00000358630:G920E;ENSP00000304604:G895E;ENSP00000358628:G895E;ENSP00000358624:G895E	ENSP00000304604:G895E	G	+	2	0	MAGI3	114003279	1.000000	0.71417	0.979000	0.43373	0.980000	0.70556	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	GGA		0.408	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		32	76	0	0	0	1	0	32	76				
DOCK10	55619	broad.mit.edu	37	2	225751178	225751178	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:225751178C>A	ENST00000258390.7	-	5	554	c.487G>T	c.(487-489)Gaa>Taa	p.E163*	DOCK10_ENST00000409592.3_Nonsense_Mutation_p.E157*	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	163					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E163K(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TTACTTACTTCATCCTTATCA	0.338																																						ENST00000409592.3																			1	Substitution - Missense(1)	p.E163K(1)	cervix(1)	NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87						c.(469-471)Gaa>Taa		dedicator of cytokinesis 10							98.0	96.0	97.0					2																	225751178		1865	4092	5957	SO:0001587	stop_gained	55619						GTP binding	g.chr2:225751178C>A	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.487G>T	2.37:g.225751178C>A	ENSP00000258390:p.Glu163*					DOCK10_ENST00000258390.7_Nonsense_Mutation_p.E163*	p.E157*			Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	5	582	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	163					B3FL70|O75178|Q9NW06|Q9NXI8	Nonsense_Mutation	SNP	ENST00000258390.7	37	c.469G>T	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	C	37	6.612195	0.97705	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.7948	0.96474	0.0:1.0:0.0:0.0	.	.	.	.	X	157;163	.	ENSP00000258390:E163X	E	-	1	0	DOCK10	225459422	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.175000	0.77632	2.687000	0.91594	0.650000	0.86243	GAA		0.338	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			4	18	1	0	0.150653	1	0.151144	4	18				
HACE1	57531	broad.mit.edu	37	6	105239524	105239524	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:105239524G>A	ENST00000262903.4	-	11	1205	c.929C>T	c.(928-930)tCt>tTt	p.S310F	HACE1_ENST00000369125.2_Missense_Mutation_p.S310F	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	310					cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		ATAATTGCTAGAGAGGCTGAA	0.313																																						ENST00000262903.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44						c.(928-930)tCt>tTt		HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1							69.0	72.0	71.0					6																	105239524		2203	4299	6502	SO:0001583	missense	57531				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity	g.chr6:105239524G>A	BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"""Ankyrin repeat domain containing"""	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.929C>T	6.37:g.105239524G>A	ENSP00000262903:p.Ser310Phe					HACE1_ENST00000369125.2_Missense_Mutation_p.S310F	p.S310F	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)	11	1205	-		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)	310					A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Missense_Mutation	SNP	ENST00000262903.4	37	c.929C>T	CCDS5050.1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.742604	0.69418	.	.	ENSG00000085382	ENST00000262903;ENST00000369125	T;T	0.39056	1.11;1.1	5.84	5.84	0.93424	.	0.104328	0.64402	D	0.000002	T	0.45597	0.1350	L	0.29908	0.895	0.80722	D	1	D;D	0.61697	0.99;0.99	D;D	0.71656	0.974;0.974	T	0.17776	-1.0358	10	0.32370	T	0.25	.	20.1535	0.98095	0.0:0.0:1.0:0.0	.	310;310	E9PGP0;Q8IYU2	.;HACE1_HUMAN	F	310	ENSP00000262903:S310F;ENSP00000358121:S310F	ENSP00000262903:S310F	S	-	2	0	HACE1	105346217	1.000000	0.71417	0.971000	0.41717	0.990000	0.78478	9.447000	0.97595	2.764000	0.94973	0.650000	0.86243	TCT		0.313	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041643.2	XM_045095		26	95	0	0	0	1	0	26	95				
SLC30A7	148867	broad.mit.edu	37	1	101377785	101377785	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:101377785C>T	ENST00000370112.4	+	5	689	c.502C>T	c.(502-504)Cat>Tat	p.H168Y	SLC30A7_ENST00000357650.4_Missense_Mutation_p.H168Y	NM_001144884.1|NM_133496.4	NP_001138356.1|NP_598003.2	Q8NEW0	ZNT7_HUMAN	solute carrier family 30 (zinc transporter), member 7	168	His-rich loop.				cellular protein metabolic process (GO:0044267)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	cation transmembrane transporter activity (GO:0008324)			endometrium(3)|large_intestine(2)|lung(10)	15		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)		TGGACATTCTCATGGCTCTGG	0.353																																					NSCLC(91;473 1491 3102 16827 21633)	ENST00000370112.4																			0				endometrium(3)|large_intestine(2)|lung(10)	15						c.(502-504)Cat>Tat		solute carrier family 30 (zinc transporter), member 7							215.0	203.0	207.0					1																	101377785		2203	4300	6503	SO:0001583	missense	148867				zinc ion transport	Golgi apparatus|integral to membrane	cation transmembrane transporter activity|protein binding	g.chr1:101377785C>T	AF233345	CCDS776.1	1p21.1	2013-05-22			ENSG00000162695	ENSG00000162695		"""Solute carriers"""	19306	protein-coding gene	gene with protein product		611149				12446736	Standard	NM_133496		Approved	ZnTL2, ZNT7	uc001dto.2	Q8NEW0	OTTHUMG00000011815	ENST00000370112.4:c.502C>T	1.37:g.101377785C>T	ENSP00000359130:p.His168Tyr					SLC30A7_ENST00000357650.4_Missense_Mutation_p.H168Y	p.H168Y	NM_001144884.1|NM_133496.4	NP_001138356.1|NP_598003.2	Q8NEW0	ZNT7_HUMAN		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)	5	689	+		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)	168			His-rich loop.		B2R949|D3DT61|Q8TCH2	Missense_Mutation	SNP	ENST00000370112.4	37	c.502C>T	CCDS776.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.281600	0.80692	.	.	ENSG00000162695	ENST00000370112;ENST00000357650	T;T	0.73681	-0.77;-0.77	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.87981	0.6315	H	0.95611	3.695	0.80722	D	1	P	0.49559	0.925	D	0.67900	0.954	D	0.86688	0.1921	10	0.18710	T	0.47	-9.2027	19.4517	0.94871	0.0:1.0:0.0:0.0	.	168	Q8NEW0	ZNT7_HUMAN	Y	168	ENSP00000359130:H168Y;ENSP00000350278:H168Y	ENSP00000350278:H168Y	H	+	1	0	SLC30A7	101150373	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.241000	0.78201	2.656000	0.90262	0.609000	0.83330	CAT		0.353	SLC30A7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032711.1	NM_133496		51	123	0	0	0	1	0	51	123				
TBC1D3P2	440452	broad.mit.edu	37	17	60342186	60342186	+	RNA	SNP	T	T	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:60342186T>C	ENST00000581291.1	-	0	1967									TBC1 domain family, member 3 pseudogene 2											breast(2)|kidney(1)|lung(2)	5						GCTGGGGGTGTTGGGAGGGGC	0.498																																						ENST00000581291.1																			0				breast(2)|kidney(1)|lung(2)	5																																														440452							g.chr17:60342186T>C			17q23.2	2009-05-14				ENSG00000188755			27783	pseudogene	pseudogene							Standard	NR_027486		Approved		uc002izq.2				17.37:g.60342186T>C														0	1967	-									RNA	SNP	ENST00000581291.1	37																																																																																						0.498	TBC1D3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445021.1	NR_027486		4	18	0	0	0	1	0	4	18				
KIZ	55857	broad.mit.edu	37	20	21227155	21227155	+	RNA	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr20:21227155G>C	ENST00000457464.1	+	0	3750																											CTCAGAAATTGAGGCTGCTTT	0.373																																						ENST00000457464.1																			0													polo-like kinase 1 substrate 1							97.0	93.0	94.0					20																	21227155		1865	4107	5972			55857				spindle organization	centrosome	protein kinase binding	g.chr20:21227155G>C																													20.37:g.21227155G>C										Q2M2Z5	KIZ_HUMAN			0	3750	+									RNA	SNP	ENST00000457464.1	37																																																																																						0.373	PLK1S1-003	KNOWN	not_organism_supported|sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000078262.2			6	19	0	0	0	1	0	6	19				
FAM47A	158724	broad.mit.edu	37	X	34149282	34149282	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:34149282C>A	ENST00000346193.3	-	1	1165	c.1114G>T	c.(1114-1116)Ggg>Tgg	p.G372W		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	372								p.G372W(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						AGACTGGACCCCCGACGAGTC	0.632																																						ENST00000346193.3																			2	Substitution - Missense(2)	p.G372W(2)	lung(2)	NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						c.(1114-1116)Ggg>Tgg		family with sequence similarity 47, member A							35.0	36.0	36.0					X																	34149282		2199	4299	6498	SO:0001583	missense	158724							g.chrX:34149282C>A	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1114G>T	X.37:g.34149282C>A	ENSP00000345029:p.Gly372Trp						p.G372W	NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN			1	1165	-			372					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.1114G>T	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	c	6.063	0.380011	0.11466	.	.	ENSG00000185448	ENST00000346193	T	0.23147	1.92	0.226	-0.452	0.12205	.	.	.	.	.	T	0.16727	0.0402	L	0.34521	1.04	0.09310	N	1	P	0.49447	0.924	B	0.43360	0.417	T	0.10894	-1.0610	8	0.37606	T	0.19	.	.	.	.	.	372	Q5JRC9	FA47A_HUMAN	W	372	ENSP00000345029:G372W	ENSP00000345029:G372W	G	-	1	0	FAM47A	34059203	0.056000	0.20664	0.001000	0.08648	0.001000	0.01503	0.663000	0.25053	-0.901000	0.03891	-0.907000	0.02831	GGG		0.632	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		30	90	1	0	1.99505e-19	1	2.15985e-19	30	90				
LGALS3BP	3959	broad.mit.edu	37	17	76967881	76967881	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:76967881G>A	ENST00000262776.3	-	6	1843	c.1535C>T	c.(1534-1536)tCa>tTa	p.S512L	LGALS3BP_ENST00000591778.1_3'UTR	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	512					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			GGTGCGATCTGAGCCGCCAGA	0.607											OREG0024787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(89;1105 1755 18102 21513)	ENST00000262776.3																			0				NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1534-1536)tCa>tTa		lectin, galactoside-binding, soluble, 3 binding protein							53.0	49.0	50.0					17																	76967881		2203	4300	6503	SO:0001583	missense	3959				cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity	g.chr17:76967881G>A	L13210	CCDS11759.1	17q25	2014-07-09				ENSG00000108679		"""BTB/POZ domain containing"", ""Endogenous ligands"""	6564	protein-coding gene	gene with protein product	"""L3 antigen"", ""Mac-2-binding protein"", ""serum protein 90K"", ""transport and golgi organization 10 homolog B (Drosophila)"""	600626				7698018, 8034587, 8390986	Standard	NM_005567		Approved	MAC-2-BP, 90K, BTBD17B, TANGO10B, M2BP, gp90, CyCAP	uc002jwh.3	Q08380		ENST00000262776.3:c.1535C>T	17.37:g.76967881G>A	ENSP00000262776:p.Ser512Leu		OREG0024787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1172	LGALS3BP_ENST00000591778.1_3'UTR	p.S512L	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)		6	1843	-			512					Q7M4S0|Q9UCH8|Q9UCH9|Q9UCI0	Missense_Mutation	SNP	ENST00000262776.3	37	c.1535C>T	CCDS11759.1	.	.	.	.	.	.	.	.	.	.	G	5.195	0.221601	0.09863	.	.	ENSG00000108679	ENST00000262776;ENST00000536190	T	0.01505	4.82	3.4	-4.53	0.03462	.	0.518645	0.14569	N	0.311550	T	0.01730	0.0055	M	0.61703	1.905	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44574	-0.9319	10	0.46703	T	0.11	-0.0089	0.8268	0.01122	0.3066:0.2904:0.2521:0.1509	.	512	Q08380	LG3BP_HUMAN	L	512;500	ENSP00000262776:S512L	ENSP00000262776:S512L	S	-	2	0	LGALS3BP	74479476	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.152000	0.10159	-0.903000	0.03881	0.561000	0.74099	TCA		0.607	LGALS3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437785.3	NM_005567		20	43	0	0	0	1	0	20	43				
ICE1	23379	broad.mit.edu	37	5	5460625	5460625	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:5460625C>G	ENST00000296564.7	+	13	1400	c.1178C>G	c.(1177-1179)tCa>tGa	p.S393*		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		393					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GAGTGTGTTTCAGAAGATGAT	0.368																																						ENST00000296564.7																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(1177-1179)tCa>tGa		KIAA0947							36.0	34.0	35.0					5																	5460625		1824	4089	5913	SO:0001587	stop_gained	23379							g.chr5:5460625C>G																												ENST00000296564.7:c.1178C>G	5.37:g.5460625C>G	ENSP00000296564:p.Ser393*						p.S393*	NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN			13	1400	+			393					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Nonsense_Mutation	SNP	ENST00000296564.7	37	c.1178C>G	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	c	37	5.998620	0.97189	.	.	ENSG00000164151	ENST00000296564	.	.	.	4.47	1.05	0.20165	.	1.872150	0.02744	U	0.116601	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.3737	5.8129	0.18475	0.0:0.4379:0.0:0.5621	.	.	.	.	X	393	.	ENSP00000296564:S393X	S	+	2	0	KIAA0947	5513625	0.026000	0.19158	0.001000	0.08648	0.269000	0.26545	0.350000	0.20079	-0.036000	0.13669	0.298000	0.19748	TCA		0.368	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			7	14	0	0	0	1	0	7	14				
CXorf22	170063	broad.mit.edu	37	X	35974238	35974238	+	Silent	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:35974238G>C	ENST00000297866.5	+	8	1401	c.1335G>C	c.(1333-1335)gtG>gtC	p.V445V		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	445										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TACTTCCTGTGACGTACCACT	0.353																																						ENST00000297866.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						c.(1333-1335)gtG>gtC		chromosome X open reading frame 22							64.0	59.0	60.0					X																	35974238		2202	4300	6502	SO:0001819	synonymous_variant	170063							g.chrX:35974238G>C	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.1335G>C	X.37:g.35974238G>C							p.V445V	NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN			8	1401	+			445					Q5JRM8|Q8N6X8	Silent	SNP	ENST00000297866.5	37	c.1335G>C	CCDS14237.2																																																																																				0.353	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		23	54	0	0	0	1	0	23	54				
SCN10A	6336	broad.mit.edu	37	3	38755520	38755520	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:38755520G>A	ENST00000449082.2	-	21	3732	c.3733C>T	c.(3733-3735)Ccc>Tcc	p.P1245S		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1245					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GCTTTGATGGGAGCCACTTCA	0.502																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(3733-3735)Ccc>Tcc		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						116.0	114.0	115.0					3																	38755520		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38755520G>A	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.3733C>T	3.37:g.38755520G>A	ENSP00000390600:p.Pro1245Ser						p.P1245S	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	21	3732	-			1245					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.3733C>T	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	G	5.186	0.219916	0.09863	.	.	ENSG00000185313	ENST00000449082	D	0.98207	-4.79	4.23	-2.3	0.06785	Ion transport (1);	0.354077	0.29594	N	0.011709	D	0.92932	0.7751	N	0.13327	0.33	0.19300	N	0.999979	B	0.02656	0.0	B	0.08055	0.003	D	0.85743	0.1338	10	0.41790	T	0.15	.	10.2861	0.43568	0.1729:0.2088:0.6183:0.0	.	1245	Q9Y5Y9	SCNAA_HUMAN	S	1245	ENSP00000390600:P1245S	ENSP00000390600:P1245S	P	-	1	0	SCN10A	38730524	0.000000	0.05858	0.114000	0.21550	0.337000	0.28794	-0.886000	0.04157	-0.323000	0.08602	-0.474000	0.04947	CCC		0.502	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		34	98	0	0	0	1	0	34	98				
OR5AR1	219493	broad.mit.edu	37	11	56431941	56431941	+	Silent	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:56431941G>C	ENST00000302969.2	+	1	804	c.780G>C	c.(778-780)ctG>ctC	p.L260L		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						TTATGTACCTGAGGCCAACAT	0.512																																						ENST00000302969.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						c.(778-780)ctG>ctC		olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)							120.0	106.0	111.0					11																	56431941		2201	4296	6497	SO:0001819	synonymous_variant	219493				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56431941G>C	AB065740	CCDS31535.1	11q11	2013-10-10	2013-10-10		ENSG00000172459	ENSG00000172459		"""GPCR / Class A : Olfactory receptors"""	15260	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AR, member 1"""				Standard	NM_001004730		Approved		uc010rjm.2	Q8NGP9	OTTHUMG00000154213	ENST00000302969.2:c.780G>C	11.37:g.56431941G>C							p.L260L	NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN			1	804	+			260					Q6IF61	Silent	SNP	ENST00000302969.2	37	c.780G>C	CCDS31535.1																																																																																				0.512	OR5AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334434.1	NM_001004730		33	74	0	0	0	1	0	33	74				
ZSWIM5	57643	broad.mit.edu	37	1	45500032	45500032	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:45500032C>G	ENST00000359600.5	-	11	2606	c.2401G>C	c.(2401-2403)Gaa>Caa	p.E801Q	AL359473.1_ENST00000583502.1_RNA	NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	801						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TGCTGTGATTCCAAGTGTCCA	0.547																																						ENST00000359600.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28						c.(2401-2403)Gaa>Caa		zinc finger, SWIM-type containing 5							127.0	127.0	127.0					1																	45500032		2092	4229	6321	SO:0001583	missense	57643						zinc ion binding	g.chr1:45500032C>G	AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"""Zinc fingers, SWIM-type"""	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.2401G>C	1.37:g.45500032C>G	ENSP00000352614:p.Glu801Gln						p.E801Q	NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN			11	2606	-	Acute lymphoblastic leukemia(166;0.155)		801					Q5SXQ9	Missense_Mutation	SNP	ENST00000359600.5	37	c.2401G>C	CCDS41319.1	.	.	.	.	.	.	.	.	.	.	c	29.9	5.046490	0.93740	.	.	ENSG00000162415	ENST00000359600	T	0.58652	0.32	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.77935	0.4205	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81927	-0.0709	10	0.87932	D	0	-10.1278	18.1897	0.89803	0.0:1.0:0.0:0.0	.	801	Q9P217	ZSWM5_HUMAN	Q	801	ENSP00000352614:E801Q	ENSP00000352614:E801Q	E	-	1	0	ZSWIM5	45272619	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.561000	0.82288	2.460000	0.83146	0.655000	0.94253	GAA		0.547	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024823.2	XM_046581		59	137	0	0	0	1	0	59	137				
AKNA	80709	broad.mit.edu	37	9	117138967	117138967	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr9:117138967C>T	ENST00000307564.4	-	3	1281	c.1120G>A	c.(1120-1122)Gag>Aag	p.E374K	AKNA_ENST00000374075.5_Missense_Mutation_p.E293K|AKNA_ENST00000374088.3_Missense_Mutation_p.E374K|AKNA_ENST00000312033.3_Missense_Mutation_p.E374K|AKNA_ENST00000223791.3_5'UTR	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	374					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						CGGTAGCTCTCATCTTTGGGG	0.592																																						ENST00000307564.4																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						c.(1120-1122)Gag>Aag		AT-hook transcription factor							28.0	32.0	31.0					9																	117138967		2203	4300	6503	SO:0001583	missense	80709				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:117138967C>T	AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.1120G>A	9.37:g.117138967C>T	ENSP00000303769:p.Glu374Lys					AKNA_ENST00000374075.5_Missense_Mutation_p.E293K|AKNA_ENST00000223791.3_5'UTR|AKNA_ENST00000374088.3_Missense_Mutation_p.E374K|AKNA_ENST00000312033.3_Missense_Mutation_p.E374K	p.E374K	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN			3	1281	-			374					Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	ENST00000307564.4	37	c.1120G>A	CCDS6805.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.430176	0.62844	.	.	ENSG00000106948	ENST00000307564;ENST00000394582;ENST00000374088;ENST00000374075;ENST00000312033;ENST00000394574	T;T;T;T	0.34275	2.59;2.59;2.59;1.37	4.88	4.88	0.63580	.	0.000000	0.49305	D	0.000155	T	0.47875	0.1469	L	0.32530	0.975	0.80722	D	1	D;D;D	0.71674	0.998;0.993;0.996	D;D;D	0.77557	0.957;0.978;0.99	T	0.47381	-0.9122	10	0.59425	D	0.04	-25.2011	13.2659	0.60133	0.0:0.8394:0.1606:0.0	.	374;374;293	Q7Z591-6;Q7Z591;Q7Z591-2	.;AKNA_HUMAN;.	K	374;215;374;293;374;374	ENSP00000303769:E374K;ENSP00000363201:E374K;ENSP00000363188:E293K;ENSP00000309222:E374K	ENSP00000303769:E374K	E	-	1	0	AKNA	116178788	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.169000	0.58223	2.241000	0.73720	0.561000	0.74099	GAG		0.592	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767		14	42	0	0	0	1	0	14	42				
CRYBB3	1417	broad.mit.edu	37	22	25599781	25599781	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr22:25599781G>A	ENST00000215855.2	+	4	326	c.246G>A	c.(244-246)gaG>gaA	p.E82E	CRYBB3_ENST00000404334.1_Silent_p.E82E	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN	crystallin, beta B3	82	Beta/gamma crystallin 'Greek key' 2. {ECO:0000255|PROSITE-ProRule:PRU00028}.				visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			large_intestine(2)|lung(2)|prostate(1)	5						TTGTTCTGGAGAAGGGGGATT	0.582																																						ENST00000215855.2																			0				large_intestine(2)|lung(2)|prostate(1)	5						c.(244-246)gaG>gaA		crystallin, beta B3							161.0	159.0	160.0					22																	25599781		2203	4300	6503	SO:0001819	synonymous_variant	1417				visual perception		protein binding|structural constituent of eye lens	g.chr22:25599781G>A		CCDS13830.1	22q11.23	2008-06-10			ENSG00000100053	ENSG00000100053			2400	protein-coding gene	gene with protein product		123630		CRYB3		8999933	Standard	NM_004076		Approved		uc003abo.2	P26998	OTTHUMG00000150869	ENST00000215855.2:c.246G>A	22.37:g.25599781G>A						CRYBB3_ENST00000404334.1_Silent_p.E82E	p.E82E	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN			4	326	+			82			Beta/gamma crystallin 'Greek key' 2.		Q3B7S9|Q3T1B7|Q6ISK6|Q92965|Q9UH09	Silent	SNP	ENST00000215855.2	37	c.246G>A	CCDS13830.1																																																																																				0.582	CRYBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320352.1	NM_004076		51	152	0	0	0	1	0	51	152				
GPR173	54328	broad.mit.edu	37	X	53106005	53106005	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:53106005G>A	ENST00000332582.4	+	2	693	c.202G>A	c.(202-204)Gat>Aat	p.D68N		NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	68					negative regulation of neuron migration (GO:2001223)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|gonadotropin-releasing hormone receptor activity (GO:0004968)	p.D68Y(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						GTGCCTGGCCGATGGCATACG	0.602																																						ENST00000332582.4																			2	Substitution - Missense(2)	p.D68Y(2)	prostate(2)	breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						c.(202-204)Gat>Aat		G protein-coupled receptor 173							121.0	87.0	98.0					X																	53106005		2203	4300	6503	SO:0001583	missense	54328					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:53106005G>A	AB040801	CCDS14349.1	Xp11	2012-08-21	2006-02-15		ENSG00000184194	ENSG00000184194		"""GPCR / Class A : Orphans"""	18186	protein-coding gene	gene with protein product		300253	"""G-protein coupled receptor 173"", ""G protein coupled receptor 173"""			10833454	Standard	NM_018969		Approved	SREB3	uc004dru.3	Q9NS66	OTTHUMG00000021596	ENST00000332582.4:c.202G>A	X.37:g.53106005G>A	ENSP00000331600:p.Asp68Asn						p.D68N	NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN			2	693	+			68					B1B0A5	Missense_Mutation	SNP	ENST00000332582.4	37	c.202G>A	CCDS14349.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.211831	0.79240	.	.	ENSG00000184194	ENST00000332582	D	0.88431	-2.38	4.31	4.31	0.51392	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.94614	0.8264	M	0.87617	2.895	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95358	0.8453	10	0.87932	D	0	-7.3366	13.3442	0.60561	0.0:0.0:1.0:0.0	.	68	Q9NS66	GP173_HUMAN	N	68	ENSP00000331600:D68N	ENSP00000331600:D68N	D	+	1	0	GPR173	53122730	1.000000	0.71417	0.958000	0.39756	0.986000	0.74619	9.657000	0.98554	2.006000	0.58801	0.529000	0.55759	GAT		0.602	GPR173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056717.2	NM_018969		43	66	0	0	0	1	0	43	66				
CDC42BPB	9578	broad.mit.edu	37	14	103436591	103436591	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr14:103436591G>C	ENST00000361246.2	-	14	2180	c.1892C>G	c.(1891-1893)gCt>gGt	p.A631G		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		ATCAAGCTGAGCTTCCAGCTA	0.527																																						ENST00000361246.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49						c.(1891-1893)gCt>gGt		CDC42 binding protein kinase beta (DMPK-like)							51.0	44.0	46.0					14																	103436591		2203	4300	6503	SO:0001583	missense	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103436591G>C	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.1892C>G	14.37:g.103436591G>C	ENSP00000355237:p.Ala631Gly						p.A631G	NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	14	2180	-		Melanoma(154;0.155)	631						Missense_Mutation	SNP	ENST00000361246.2	37	c.1892C>G	CCDS9978.1	.	.	.	.	.	.	.	.	.	.	G	10.07	1.250792	0.22880	.	.	ENSG00000198752	ENST00000361246	D	0.83163	-1.69	5.45	2.66	0.31614	.	0.461267	0.26170	N	0.025938	T	0.76456	0.3990	L	0.49126	1.545	0.41910	D	0.990462	B	0.06786	0.001	B	0.10450	0.005	T	0.66760	-0.5842	10	0.30078	T	0.28	.	10.7416	0.46156	0.199:0.0:0.801:0.0	.	631	Q9Y5S2	MRCKB_HUMAN	G	631	ENSP00000355237:A631G	ENSP00000355237:A631G	A	-	2	0	CDC42BPB	102506344	0.990000	0.36364	0.081000	0.20488	0.707000	0.40811	3.197000	0.51028	0.279000	0.22186	0.655000	0.94253	GCT		0.527	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		5	14	0	0	0	1	0	5	14				
LDHAL6A	160287	broad.mit.edu	37	11	18500318	18500318	+	Silent	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:18500318C>T	ENST00000280706.2	+	7	1697	c.900C>T	c.(898-900)atC>atT	p.I300I	TSG101_ENST00000536719.1_Intron|LDHAL6A_ENST00000396213.3_Silent_p.I300I	NM_144972.4	NP_659409.2	Q6ZMR3	LDH6A_HUMAN	lactate dehydrogenase A-like 6A	300					cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	L-lactate dehydrogenase activity (GO:0004459)			large_intestine(3)|lung(9)|urinary_tract(1)	13						AGAATGGTATCACAGACCTCA	0.378																																						ENST00000280706.2																			0				large_intestine(3)|lung(9)|urinary_tract(1)	13						c.(898-900)atC>atT		lactate dehydrogenase A-like 6A	NADH(DB00157)						144.0	155.0	151.0					11																	18500318		2199	4293	6492	SO:0001819	synonymous_variant	160287				glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity	g.chr11:18500318C>T	AK131523	CCDS7841.1	11p15.1	2011-01-27			ENSG00000166800	ENSG00000166800			28335	protein-coding gene	gene with protein product						12477932	Standard	NM_001144071		Approved	MGC23940, LDH6A	uc001mop.1	Q6ZMR3	OTTHUMG00000167724	ENST00000280706.2:c.900C>T	11.37:g.18500318C>T						TSG101_ENST00000536719.1_Intron|LDHAL6A_ENST00000396213.3_Silent_p.I300I	p.I300I	NM_144972.4	NP_659409.2	Q6ZMR3	LDH6A_HUMAN			7	1697	+			300					D3DQY5	Silent	SNP	ENST00000280706.2	37	c.900C>T	CCDS7841.1																																																																																				0.378	LDHAL6A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395904.1	NM_144972		61	176	0	0	0	1	0	61	176				
BCL6B	255877	broad.mit.edu	37	17	6927875	6927875	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:6927875G>T	ENST00000293805.5	+	4	649	c.557G>T	c.(556-558)aGc>aTc	p.S186I	BCL6B_ENST00000572216.1_3'UTR	NM_181844.3	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	186	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			skin(1)	1						AGTCCAGCCAGCCCTGACCCC	0.607																																						ENST00000293805.5																			0				skin(1)	1						c.(556-558)aGc>aTc		B-cell CLL/lymphoma 6, member B							89.0	107.0	101.0					17																	6927875		1964	4157	6121	SO:0001583	missense	255877					nucleus	zinc ion binding	g.chr17:6927875G>T	AI672318	CCDS42248.1	17p13.1	2014-06-10	2010-04-14		ENSG00000161940	ENSG00000161940		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1002	protein-coding gene	gene with protein product		608992	"""zinc finger protein 62"", ""B-cell CLL/lymphoma 6, member B (zinc finger protein)"""	ZNF62		9632807	Standard	NM_181844		Approved	ZBTB28, BAZF	uc010clt.1	Q8N143	OTTHUMG00000177882	ENST00000293805.5:c.557G>T	17.37:g.6927875G>T	ENSP00000293805:p.Ser186Ile					BCL6B_ENST00000572216.1_3'UTR	p.S186I	NM_181844.3	NP_862827.1	Q8N143	BCL6B_HUMAN			4	649	+			186			Pro-rich.		Q6PCB4	Missense_Mutation	SNP	ENST00000293805.5	37	c.557G>T	CCDS42248.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.595582	0.66219	.	.	ENSG00000161940	ENST00000293805	T	0.09163	3.01	5.18	5.18	0.71444	.	0.199567	0.51477	D	0.000082	T	0.09291	0.0229	L	0.39898	1.24	0.31239	N	0.695448	P	0.37663	0.604	B	0.32533	0.147	T	0.06023	-1.0850	10	0.39692	T	0.17	.	11.8334	0.52309	0.0:0.1763:0.8237:0.0	.	186	Q8N143	BCL6B_HUMAN	I	186	ENSP00000293805:S186I	ENSP00000293805:S186I	S	+	2	0	BCL6B	6868599	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	4.318000	0.59190	2.695000	0.91970	0.655000	0.94253	AGC		0.607	BCL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439455.2	NM_181844		47	164	1	0	3.21987e-24	1	3.52925e-24	47	164				
PRSS12	8492	broad.mit.edu	37	4	119252894	119252894	+	Silent	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr4:119252894C>G	ENST00000296498.3	-	4	1230	c.948G>C	c.(946-948)gtG>gtC	p.V316V		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	316	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						GCCTGCAGATCACTTCTGCAT	0.493																																						ENST00000296498.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						c.(946-948)gtG>gtC		protease, serine, 12 (neurotrypsin, motopsin)							81.0	73.0	76.0					4																	119252894		2203	4300	6503	SO:0001819	synonymous_variant	8492					membrane	scavenger receptor activity	g.chr4:119252894C>G	AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"""Serine peptidases / Serine peptidases"""	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.948G>C	4.37:g.119252894C>G							p.V316V	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN			4	1230	-			316			SRCR 2.		Q9UP16	Silent	SNP	ENST00000296498.3	37	c.948G>C	CCDS3709.1																																																																																				0.493	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256516.2			12	70	0	0	0	1	0	12	70				
ACKR1	2532	broad.mit.edu	37	1	159175410	159175410	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:159175410G>T	ENST00000368122.2	+	2	860	c.181G>T	c.(181-183)Gca>Tca	p.A61S	CTA-134P22.2_ENST00000609696.1_RNA|DARC_ENST00000368121.2_Missense_Mutation_p.A63S|DARC_ENST00000537147.1_Missense_Mutation_p.A61S	NM_002036.3	NP_002027.2	Q16570	ACKR1_HUMAN		61					chemokine-mediated signaling pathway (GO:0070098)|defense response (GO:0006952)|inflammatory response (GO:0006954)|regulation of chemokine production (GO:0032642)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					GGATGACTCTGCACTGCCCTT	0.547																																						ENST00000537147.1																			0				large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8						c.(181-183)Gca>Tca		Duffy blood group, atypical chemokine receptor							111.0	99.0	103.0					1																	159175410		2203	4300	6503	SO:0001583	missense	2532				defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity	g.chr1:159175410G>T																												ENST00000368122.2:c.181G>T	1.37:g.159175410G>T	ENSP00000357104:p.Ala61Ser					DARC_ENST00000368122.2_Missense_Mutation_p.A61S|DARC_ENST00000368121.2_Missense_Mutation_p.A63S	p.A61S			Q16570	DUFFY_HUMAN			3	1024	+	all_hematologic(112;0.0429)		61					A8YPG5|O75898|Q16300|Q8WWE3|Q9UJP0|Q9UKZ5|Q9UKZ6|Q9UQE1	Missense_Mutation	SNP	ENST00000368122.2	37	c.181G>T	CCDS1183.1	.	.	.	.	.	.	.	.	.	.	G	0.105	-1.146460	0.01714	.	.	ENSG00000213088	ENST00000368122;ENST00000537147;ENST00000359381;ENST00000435307;ENST00000368121	T;T;T;T	0.18016	4.42;4.42;2.24;4.41	4.77	3.62	0.41486	.	0.336752	0.16729	N	0.201923	T	0.01254	0.0041	N	0.00446	-1.495	0.09310	N	0.999994	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.002	T	0.47535	-0.9110	10	0.27785	T	0.31	-5.406	8.8212	0.35027	0.0:0.0:0.195:0.805	.	63;61	Q5Y7A1;Q16570	.;DUFFY_HUMAN	S	61;61;61;63;63	ENSP00000357104:A61S;ENSP00000441985:A61S;ENSP00000398406:A63S;ENSP00000357103:A63S	ENSP00000352341:A61S	A	+	1	0	DARC	157442034	0.221000	0.23642	0.490000	0.27465	0.509000	0.34042	0.937000	0.28951	0.762000	0.33152	-0.704000	0.03662	GCA		0.547	DARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090338.2			28	67	1	0	8.24728e-16	1	8.83535e-16	28	67				
EPAS1	2034	broad.mit.edu	37	2	46587818	46587818	+	Silent	SNP	C	C	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:46587818C>A	ENST00000263734.3	+	5	1006	c.496C>A	c.(496-498)Cgg>Agg	p.R166R		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	166					angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GTCCACAGAGCGGGACTTCTT	0.498																																						ENST00000263734.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(496-498)Cgg>Agg		endothelial PAS domain protein 1							76.0	72.0	74.0					2																	46587818		2203	4300	6503	SO:0001819	synonymous_variant	2034				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	g.chr2:46587818C>A	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.496C>A	2.37:g.46587818C>A							p.R166R	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		5	1006	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	166					Q86VA2|Q99630	Silent	SNP	ENST00000263734.3	37	c.496C>A	CCDS1825.1																																																																																				0.498	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430		25	49	1	0	1.85244e-09	1	1.93407e-09	25	49				
HNRNPH2	3188	broad.mit.edu	37	X	100668287	100668287	+	Silent	SNP	G	G	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:100668287G>T	ENST00000316594.5	+	2	1389	c.1311G>T	c.(1309-1311)ctG>ctT	p.L437L		NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4	NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2 (H')	437					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|large_intestine(2)|lung(6)|skin(1)	12						ACCAAGTTCTGCAGGAAAACT	0.458																																						ENST00000316594.5																			0				breast(3)|large_intestine(2)|lung(6)|skin(1)	12						c.(1309-1311)ctG>ctT		heterogeneous nuclear ribonucleoprotein H2 (H')							181.0	174.0	177.0					X																	100668287		2201	4298	6499	SO:0001819	synonymous_variant	3188				nuclear mRNA splicing, via spliceosome	actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chrX:100668287G>T	U01923	CCDS14485.1	Xq22	2013-02-12		2008-04-18	ENSG00000126945	ENSG00000126945		"""RNA binding motif (RRM) containing"""	5042	protein-coding gene	gene with protein product		300610		HNRPH2		7499401	Standard	NM_019597		Approved	hnRNPH', FTP3, HNRPH'	uc004ehn.3	P55795	OTTHUMG00000022029	ENST00000316594.5:c.1311G>T	X.37:g.100668287G>T							p.L437L	NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4	NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1	P55795	HNRH2_HUMAN			2	1389	+			437					A1L400|Q9HHA7	Silent	SNP	ENST00000316594.5	37	c.1311G>T	CCDS14485.1																																																																																				0.458	HNRNPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057556.1	NM_019597		83	269	1	0	7.49063e-41	1	8.28407e-41	83	269				
L1CAM	3897	broad.mit.edu	37	X	153135906	153135906	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:153135906G>C	ENST00000370060.1	-	8	932	c.743C>G	c.(742-744)tCc>tGc	p.S248C	L1CAM_ENST00000370055.1_Missense_Mutation_p.S243C|L1CAM_ENST00000370057.3_Missense_Mutation_p.S248C|L1CAM_ENST00000361699.4_Missense_Mutation_p.S248C|L1CAM_ENST00000538883.1_Missense_Mutation_p.S250C|L1CAM_ENST00000361981.3_Missense_Mutation_p.S243C|L1CAM_ENST00000543994.1_Missense_Mutation_p.S250C	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	248	Ig-like C2-type 3.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGGCTGCTGGAGTTGGTGGG	0.652																																						ENST00000370060.1																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(742-744)tCc>tGc		L1 cell adhesion molecule							59.0	57.0	58.0					X																	153135906		2203	4300	6503	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153135906G>C	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.743C>G	X.37:g.153135906G>C	ENSP00000359077:p.Ser248Cys					L1CAM_ENST00000538883.1_Missense_Mutation_p.S250C|L1CAM_ENST00000370057.3_Missense_Mutation_p.S248C|L1CAM_ENST00000543994.1_Missense_Mutation_p.S250C|L1CAM_ENST00000361699.4_Missense_Mutation_p.S248C|L1CAM_ENST00000370055.1_Missense_Mutation_p.S243C|L1CAM_ENST00000361981.3_Missense_Mutation_p.S243C	p.S248C	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN			8	932	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		248			Ig-like C2-type 3.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.743C>G	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.545479	0.65198	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31	4.84	3.96	0.45880	Immunoglobulin I-set (1);Immunoglobulin-like (1);	0.261001	0.25958	N	0.027212	T	0.79323	0.4426	M	0.83312	2.635	0.51482	D	0.999929	P;D;D	0.56968	0.952;0.978;0.961	P;P;D	0.63283	0.859;0.859;0.913	T	0.81267	-0.1010	10	0.56958	D	0.05	.	10.4907	0.44750	0.1018:0.0:0.8981:0.0	.	243;248;248	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	C	248;250;248;250;243;243;248	ENSP00000359077:S248C;ENSP00000438430:S250C;ENSP00000359074:S248C;ENSP00000439645:S250C;ENSP00000354712:S243C;ENSP00000359072:S243C;ENSP00000355380:S248C	ENSP00000355380:S248C	S	-	2	0	L1CAM	152789100	0.941000	0.31946	0.999000	0.59377	0.996000	0.88848	1.653000	0.37323	1.995000	0.58328	0.529000	0.55759	TCC		0.652	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		17	47	0	0	0	1	0	17	47				
KCNH8	131096	broad.mit.edu	37	3	19554753	19554753	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:19554753G>C	ENST00000328405.2	+	13	2637	c.2371G>C	c.(2371-2373)Gag>Cag	p.E791Q		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	791					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TAAAAGGAAAGAGAAGAACTT	0.448																																					NSCLC(124;1625 1765 8018 24930 42026)	ENST00000328405.2																			0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						c.(2371-2373)Gag>Cag		potassium voltage-gated channel, subfamily H (eag-related), member 8							89.0	94.0	92.0					3																	19554753		2203	4300	6503	SO:0001583	missense	131096					integral to membrane	two-component sensor activity	g.chr3:19554753G>C	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.2371G>C	3.37:g.19554753G>C	ENSP00000328813:p.Glu791Gln						p.E791Q	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN			13	2637	+			791					B7Z2I7|Q59GQ6	Missense_Mutation	SNP	ENST00000328405.2	37	c.2371G>C	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.578948	0.28180	.	.	ENSG00000183960	ENST00000328405	D	0.98617	-5.03	5.98	5.11	0.69529	.	0.000000	0.31821	U	0.007019	D	0.96815	0.8960	L	0.46157	1.445	0.80722	D	1	B	0.19331	0.035	B	0.17098	0.017	D	0.95654	0.8709	9	.	.	.	.	15.759	0.78063	0.0:0.1354:0.8646:0.0	.	791	Q96L42	KCNH8_HUMAN	Q	791	ENSP00000328813:E791Q	.	E	+	1	0	KCNH8	19529757	1.000000	0.71417	1.000000	0.80357	0.592000	0.36648	4.751000	0.62169	1.534000	0.49203	-0.156000	0.13503	GAG		0.448	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633		9	92	0	0	0	1	0	9	92				
GPR123	84435	broad.mit.edu	37	10	134896287	134896287	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr10:134896287G>C	ENST00000607359.1	+	7	1299	c.1299G>C	c.(1297-1299)aaG>aaC	p.K433N	RP13-439H18.4_ENST00000444433.1_RNA			Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	0					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CCCCCTGTAAGCCTGGATGCG	0.657																																						ENST00000607359.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14						c.(1297-1299)aaG>aaC		G protein-coupled receptor 123							23.0	28.0	26.0					10																	134896287		1566	3579	5145	SO:0001583	missense	84435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:134896287G>C	AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"""-"", ""GPCR / Class B : Orphans"""	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000607359.1:c.1299G>C	10.37:g.134896287G>C	ENSP00000475778:p.Lys433Asn						p.K433N			Q86SQ6	GP123_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)	7	1299	+		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)	0					A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Missense_Mutation	SNP	ENST00000607359.1	37	c.1299G>C		.	.	.	.	.	.	.	.	.	.	G	4.858	0.159550	0.09287	.	.	ENSG00000197177	ENST00000368577;ENST00000392609	.	.	.	1.38	-0.851	0.10716	.	.	.	.	.	T	0.19644	0.0472	.	.	.	0.31099	N	0.710612	P	0.44344	0.833	B	0.32022	0.139	T	0.17289	-1.0374	6	0.87932	D	0	.	4.2146	0.10528	0.442:0.0:0.558:0.0	.	433	Q86SQ6-1	.	N	433	.	ENSP00000357566:K433N	K	+	3	2	GPR123	134746277	0.000000	0.05858	0.000000	0.03702	0.077000	0.17291	-0.861000	0.04268	-0.243000	0.09653	0.430000	0.28490	AAG		0.657	GPR123-004	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316904.2			8	10	0	0	0	1	0	8	10				
PRDM2	7799	broad.mit.edu	37	1	14068548	14068548	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:14068548G>C	ENST00000235372.7	+	5	1136	c.280G>C	c.(280-282)Gag>Cag	p.E94Q	PRDM2_ENST00000311066.5_Missense_Mutation_p.E94Q|PRDM2_ENST00000376048.5_Missense_Mutation_p.E94Q|PRDM2_ENST00000502727.1_3'UTR	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	94	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CACTGATCCAGAGAAGGGAAA	0.368																																						ENST00000235372.7																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55						c.(280-282)Gag>Cag		PR domain containing 2, with ZNF domain							79.0	75.0	76.0					1																	14068548		2203	4300	6503	SO:0001583	missense	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14068548G>C	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.280G>C	1.37:g.14068548G>C	ENSP00000235372:p.Glu94Gln					PRDM2_ENST00000502727.1_3'UTR|PRDM2_ENST00000376048.5_Missense_Mutation_p.E94Q|PRDM2_ENST00000311066.5_Missense_Mutation_p.E94Q	p.E94Q	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	5	1136	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	94			SET.		B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	c.280G>C	CCDS150.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.303952	0.40795	.	.	ENSG00000116731	ENST00000484063;ENST00000376048;ENST00000235372;ENST00000311066;ENST00000400800	T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78	5.95	2.66	0.31614	SET domain (3);	0.415280	0.28349	N	0.015666	T	0.52964	0.1767	N	0.12502	0.225	0.27729	N	0.944863	B;B;B	0.21452	0.056;0.046;0.001	B;B;B	0.29176	0.099;0.06;0.002	T	0.40813	-0.9543	10	0.22109	T	0.4	.	6.869	0.24111	0.1159:0.5564:0.3277:0.0	.	94;94;94	Q13029;Q13029-2;B1AJZ4	PRDM2_HUMAN;.;.	Q	85;94;94;94;94	ENSP00000423010:E85Q;ENSP00000365216:E94Q;ENSP00000235372:E94Q;ENSP00000312352:E94Q	ENSP00000235372:E94Q	E	+	1	0	PRDM2	13941135	0.980000	0.34600	0.988000	0.46212	0.997000	0.91878	1.489000	0.35562	0.828000	0.34709	0.655000	0.94253	GAG		0.368	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		22	47	0	0	0	1	0	22	47				
COL4A6	1288	broad.mit.edu	37	X	107433638	107433638	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:107433638G>A	ENST00000372216.4	-	20	1513	c.1413C>T	c.(1411-1413)ggC>ggT	p.G471G	COL4A6_ENST00000334504.7_Silent_p.G470G|COL4A6_ENST00000538570.1_Silent_p.G470G|COL4A6_ENST00000545689.1_Silent_p.G470G|COL4A6_ENST00000394872.2_Silent_p.G471G	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	471	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TTCCTTTGAGGCCTAGGTTTC	0.468									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	ENST00000394872.2																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						c.(1411-1413)ggC>ggT		collagen, type IV, alpha 6							130.0	117.0	122.0					X																	107433638		2203	4300	6503	SO:0001819	synonymous_variant	1288	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107433638G>A	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.1413C>T	X.37:g.107433638G>A						COL4A6_ENST00000372216.4_Silent_p.G471G|COL4A6_ENST00000334504.7_Silent_p.G470G|COL4A6_ENST00000538570.1_Silent_p.G470G|COL4A6_ENST00000545689.1_Silent_p.G470G	p.G471G			Q14031	CO4A6_HUMAN			20	1644	-			471			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Silent	SNP	ENST00000372216.4	37	c.1413C>T	CCDS14541.1																																																																																				0.468	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			27	82	0	0	0	1	0	27	82				
GTF3C5	9328	broad.mit.edu	37	9	135926201	135926201	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr9:135926201G>A	ENST00000372097.5	+	4	927	c.604G>A	c.(604-606)Gag>Aag	p.E202K	GTF3C5_ENST00000342018.8_Missense_Mutation_p.E202K|GTF3C5_ENST00000372095.5_Missense_Mutation_p.E77K|GTF3C5_ENST00000372108.5_Missense_Mutation_p.E202K|GTF3C5_ENST00000372099.6_Missense_Mutation_p.E193K	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	202					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		CATCTCAGGTGAGAATCTGAT	0.607																																						ENST00000372097.5																			0				endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21						c.(604-606)Gag>Aag		general transcription factor IIIC, polypeptide 5, 63kDa							66.0	62.0	63.0					9																	135926201		2203	4300	6503	SO:0001583	missense	9328					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr9:135926201G>A	AF133124	CCDS6958.1, CCDS48050.1, CCDS75927.1	9q34.13	2010-03-23	2002-08-29		ENSG00000148308	ENSG00000148308		"""General transcription factors"""	4668	protein-coding gene	gene with protein product	"""transcription factor IIIC, 63 kD"""	604890	"""general transcription factor IIIC, polypeptide 5 (63kD)"""			10373544	Standard	NM_012087		Approved	TFiiiC2-63, TFIIIC63, TFIIICepsilon	uc004ccj.4	Q9Y5Q8	OTTHUMG00000020856	ENST00000372097.5:c.604G>A	9.37:g.135926201G>A	ENSP00000361169:p.Glu202Lys					GTF3C5_ENST00000372099.6_Missense_Mutation_p.E193K|GTF3C5_ENST00000372095.5_Missense_Mutation_p.E77K|GTF3C5_ENST00000372108.5_Missense_Mutation_p.E202K|GTF3C5_ENST00000342018.8_Missense_Mutation_p.E202K	p.E202K	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)	4	927	+			202					A6NI44|A6NJB9|Q5T7U2|Q5T7U3|Q8N2U7|Q8N857|Q96GD9|Q9H4P2	Missense_Mutation	SNP	ENST00000372097.5	37	c.604G>A	CCDS6958.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.971013	0.34754	.	.	ENSG00000148308	ENST00000372097;ENST00000440319;ENST00000372099;ENST00000372095;ENST00000372089;ENST00000372108;ENST00000342018;ENST00000439697	T;T;T;T	0.48522	0.83;0.85;0.81;0.91	5.16	5.16	0.70880	.	0.390144	0.30686	N	0.009100	T	0.38506	0.1043	L	0.38838	1.175	0.50632	D	0.999881	B;B;B	0.32128	0.21;0.307;0.357	B;B;B	0.31869	0.137;0.112;0.046	T	0.17684	-1.0361	10	0.11485	T	0.65	-28.7545	17.6192	0.88076	0.0:0.0:1.0:0.0	.	77;202;202	B7Z1V3;Q9Y5Q8-3;Q9Y5Q8	.;.;TF3C5_HUMAN	K	202;155;193;77;52;202;202;77	ENSP00000361169:E202K;ENSP00000361171:E193K;ENSP00000361180:E202K;ENSP00000339530:E202K	ENSP00000339530:E202K	E	+	1	0	GTF3C5	134916022	1.000000	0.71417	0.939000	0.37840	0.149000	0.21700	5.544000	0.67231	2.387000	0.81309	0.561000	0.74099	GAG		0.607	GTF3C5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054826.1	NM_001122823		35	96	0	0	0	1	0	35	96				
TULP4	56995	broad.mit.edu	37	6	158923702	158923702	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:158923702G>A	ENST00000367097.3	+	13	4364	c.3007G>A	c.(3007-3009)Gac>Aac	p.D1003N	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	1003					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CCAGCTGGCCGACAGCCCGCG	0.721																																						ENST00000367097.3																			0				endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(3007-3009)Gac>Aac		tubby like protein 4							7.0	9.0	8.0					6																	158923702		2120	4192	6312	SO:0001583	missense	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158923702G>A		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.3007G>A	6.37:g.158923702G>A	ENSP00000356064:p.Asp1003Asn					TULP4_ENST00000367094.2_Intron	p.D1003N	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	13	4364	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	1003					Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	ENST00000367097.3	37	c.3007G>A	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.397390	0.42512	.	.	ENSG00000130338	ENST00000367097	T	0.64803	-0.12	4.39	4.39	0.52855	.	0.107759	0.64402	D	0.000007	T	0.44498	0.1296	L	0.50333	1.59	0.80722	D	1	P	0.45428	0.858	B	0.35607	0.206	T	0.59721	-0.7401	10	0.87932	D	0	-15.9311	17.304	0.87190	0.0:0.0:1.0:0.0	.	1003	Q9NRJ4	TULP4_HUMAN	N	1003	ENSP00000356064:D1003N	ENSP00000356064:D1003N	D	+	1	0	TULP4	158843690	1.000000	0.71417	0.039000	0.18376	0.174000	0.22865	3.907000	0.56348	2.146000	0.66826	0.491000	0.48974	GAC		0.721	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		6	17	0	0	0	1	0	6	17				
FBXW5	54461	broad.mit.edu	37	9	139837266	139837266	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr9:139837266C>T	ENST00000325285.3	-	4	560	c.481G>A	c.(481-483)Ggg>Agg	p.G161R	FBXW5_ENST00000483559.1_5'UTR|C8G_ENST00000224181.3_5'Flank	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	161					centrosome duplication (GO:0051298)|mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		TTGTGCGGCCCCAGGAACACC	0.657																																						ENST00000325285.3																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						c.(481-483)Ggg>Agg		F-box and WD repeat domain containing 5							66.0	66.0	66.0					9																	139837266		2203	4300	6503	SO:0001583	missense	54461						catalytic activity|protein binding	g.chr9:139837266C>T	BC014130	CCDS7014.1	9q34.3	2013-01-09	2007-02-08		ENSG00000159069	ENSG00000159069		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13613	protein-coding gene	gene with protein product		609072	"""F-box and WD-40 domain protein 5"""				Standard	NM_018998		Approved	DKFZP434B205, MGC20962, Fbw5	uc004cjx.3	Q969U6	OTTHUMG00000020967	ENST00000325285.3:c.481G>A	9.37:g.139837266C>T	ENSP00000313034:p.Gly161Arg					FBXW5_ENST00000483559.1_5'UTR	p.G161R	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)	4	560	-	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	161					B2RDZ6|Q59ET5|Q5SPZ8|Q5SPZ9|Q5SQ00|Q5SQ02|Q5SQ03|Q5SQ04|Q8WY79|Q96GJ6|Q9BSU8|Q9H6A8|Q9HBQ6|Q9NSZ3	Missense_Mutation	SNP	ENST00000325285.3	37	c.481G>A	CCDS7014.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.671807	0.88348	.	.	ENSG00000159069	ENST00000325285;ENST00000428398	T;D	0.90324	-1.09;-2.65	4.2	4.2	0.49525	WD40/YVTN repeat-like-containing domain (1);Soluble quinoprotein glucose/sorbosone dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.95089	0.8409	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.95073	0.8206	10	0.46703	T	0.11	-8.0052	16.7759	0.85550	0.0:1.0:0.0:0.0	.	161	Q969U6	FBXW5_HUMAN	R	161;171	ENSP00000313034:G161R;ENSP00000404829:G171R	ENSP00000313034:G161R	G	-	1	0	FBXW5	138957087	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	7.162000	0.77515	2.180000	0.69256	0.556000	0.70494	GGG		0.657	FBXW5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055227.1	NM_018998		23	51	0	0	0	1	0	23	51				
KCTD9	54793	broad.mit.edu	37	8	25290879	25290879	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr8:25290879C>G	ENST00000221200.4	-	10	1106	c.886G>C	c.(886-888)Gag>Cag	p.E296Q		NM_017634.3	NP_060104.2	Q7L273	KCTD9_HUMAN	potassium channel tetramerization domain containing 9	296	Pentapeptide repeat 1.				protein homooligomerization (GO:0051260)					breast(1)|endometrium(2)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	12		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)		GAAGGATCCTCAAAATTACAC	0.418																																						ENST00000221200.4																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	12						c.(886-888)Gag>Cag		potassium channel tetramerization domain containing 9							58.0	54.0	55.0					8																	25290879		2203	4299	6502	SO:0001583	missense	54793					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:25290879C>G	BC021216	CCDS6048.1	8p21.1	2013-06-20	2013-06-20		ENSG00000104756	ENSG00000104756		"""BTB/POZ domain containing"""	22401	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 9"""			11483580	Standard	NM_017634		Approved	FLJ20038, BTBD27	uc003xeo.3	Q7L273	OTTHUMG00000099428	ENST00000221200.4:c.886G>C	8.37:g.25290879C>G	ENSP00000221200:p.Glu296Gln						p.E296Q	NM_017634.3	NP_060104.2	Q7L273	KCTD9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)	10	1106	-		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)	296			Pentapeptide repeat 1.		Q6NUM8|Q9NXV4	Missense_Mutation	SNP	ENST00000221200.4	37	c.886G>C	CCDS6048.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.252681	0.59212	.	.	ENSG00000104756	ENST00000221200	T	0.43294	0.95	5.28	5.28	0.74379	.	0.062767	0.64402	U	0.000008	T	0.58366	0.2117	L	0.47078	1.49	0.80722	D	1	D	0.62365	0.991	D	0.76575	0.988	T	0.49652	-0.8917	10	0.27082	T	0.32	.	18.8711	0.92315	0.0:1.0:0.0:0.0	.	296	Q7L273	KCTD9_HUMAN	Q	296	ENSP00000221200:E296Q	ENSP00000221200:E296Q	E	-	1	0	KCTD9	25346796	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.383000	0.79741	2.628000	0.89032	0.561000	0.74099	GAG		0.418	KCTD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216890.1	NM_017634		8	29	0	0	0	1	0	8	29				
MKLN1	4289	broad.mit.edu	37	7	131012745	131012745	+	Silent	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr7:131012745C>T	ENST00000352689.6	+	1	127	c.87C>T	c.(85-87)acC>acT	p.T29T	MKLN1-AS2_ENST00000454515.1_RNA|MKLN1-AS2_ENST00000416220.1_RNA|MKLN1_ENST00000429546.1_Intron|MKLN1_ENST00000421797.2_Intron|MKLN1-AS2_ENST00000429067.1_RNA	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	29					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					TTTCCTCCACCTACCTTCCCG	0.672																																						ENST00000352689.6																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(85-87)acC>acT		muskelin 1, intracellular mediator containing kelch motifs							46.0	42.0	43.0					7																	131012745		2203	4300	6503	SO:0001819	synonymous_variant	4289				signal transduction	cytoplasm	protein binding	g.chr7:131012745C>T	AF047489	CCDS34754.1	7q32	2008-07-18			ENSG00000128585	ENSG00000128585			7109	protein-coding gene	gene with protein product		605623				10640805	Standard	NM_001145354		Approved	TWA2	uc011kpm.2	Q9UL63	OTTHUMG00000154880	ENST00000352689.6:c.87C>T	7.37:g.131012745C>T						MKLN1_ENST00000429546.1_Intron|MKLN1_ENST00000421797.2_Intron	p.T29T	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN			1	127	+	Melanoma(18;0.162)		29					A4D1M8|A6NG43|Q9NSK4|Q9NUS8	Silent	SNP	ENST00000352689.6	37	c.87C>T	CCDS34754.1																																																																																				0.672	MKLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337473.4	NM_013255		3	25	0	0	0	1	0	3	25				
HSPA2	3306	broad.mit.edu	37	14	65007846	65007846	+	Silent	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr14:65007846C>T	ENST00000394709.1	+	2	355	c.279C>T	c.(277-279)ttC>ttT	p.F93F	HSPA2_ENST00000554883.1_Intron|HSPA2_ENST00000247207.6_Silent_p.F93F|RP11-973N13.4_ENST00000554918.1_RNA			P54652	HSP72_HUMAN	heat shock 70kDa protein 2	93					male meiosis (GO:0007140)|male meiosis I (GO:0007141)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G2/M transition of mitotic cell cycle (GO:0031662)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|spermatid development (GO:0007286)|synaptonemal complex disassembly (GO:0070194)	blood microparticle (GO:0072562)|CatSper complex (GO:0036128)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycolipid binding (GO:0051861)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		ACTGGCCGTTCCGGGTGGTGA	0.557																																					Pancreas(136;1211 1835 24894 31984 38227)	ENST00000247207.6																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22						c.(277-279)ttC>ttT		heat shock 70kDa protein 2							91.0	77.0	82.0					14																	65007846		2203	4300	6503	SO:0001819	synonymous_variant	3306				response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding	g.chr14:65007846C>T	L26336, BC001752	CCDS9766.1	14q23	2012-10-02	2002-08-29		ENSG00000126803	ENSG00000126803		"""Heat shock proteins / HSP70"""	5235	protein-coding gene	gene with protein product		140560	"""heat shock 70kD protein 2"""				Standard	NM_021979		Approved		uc001xhk.4	P54652	OTTHUMG00000141311	ENST00000394709.1:c.279C>T	14.37:g.65007846C>T						HSPA2_ENST00000394709.1_Silent_p.F93F|HSPA2_ENST00000554883.1_Intron	p.F93F	NM_021979.3	NP_068814.2	P54652	HSP72_HUMAN		all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)	1	661	+			93					Q15508|Q53XM3|Q9UE78	Silent	SNP	ENST00000394709.1	37	c.279C>T	CCDS9766.1																																																																																				0.557	HSPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280651.1			18	56	0	0	0	1	0	18	56				
TIMELESS	8914	broad.mit.edu	37	12	56827433	56827433	+	Silent	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:56827433C>T	ENST00000553532.1	-	4	405	c.255G>A	c.(253-255)ctG>ctA	p.L85L	TIMELESS_ENST00000229201.4_Silent_p.L85L|TIMELESS_ENST00000554616.1_Silent_p.L85L					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						AGTTCACCATCAGTCTGGGAG	0.478																																						ENST00000229201.4																			0				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						c.(253-255)ctG>ctA		timeless circadian clock							67.0	71.0	70.0					12																	56827433		2203	4300	6503	SO:0001819	synonymous_variant	8914				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		g.chr12:56827433C>T	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.255G>A	12.37:g.56827433C>T						TIMELESS_ENST00000554616.1_Silent_p.L85L|TIMELESS_ENST00000553532.1_Silent_p.L85L	p.L85L	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN			4	409	-			85						Silent	SNP	ENST00000553532.1	37	c.255G>A	CCDS8918.1																																																																																				0.478	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		43	103	0	0	0	1	0	43	103				
ASH1L	55870	broad.mit.edu	37	1	155309120	155309120	+	Splice_Site	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:155309120G>A	ENST00000368346.3	-	26	9154	c.8515C>T	c.(8515-8517)Cga>Tga	p.R2839*	ASH1L_ENST00000392403.3_Splice_Site_p.R2834*			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2839					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GGGACTTACCGTCCTCCATTC	0.468																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.e26+1		ash1 (absent, small, or homeotic)-like (Drosophila)							156.0	151.0	153.0					1																	155309120		2203	4300	6503	SO:0001630	splice_region_variant	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155309120G>A	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.8516+1C>T	1.37:g.155309120G>A						ASH1L_ENST00000392403.3_Splice_Site_p.R2834_splice	p.R2839_splice			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		26	9154	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		2839					Q59GP1|Q5T714|Q5T715|Q9P2C7	Splice_Site	SNP	ENST00000368346.3	37	c.8516_splice		.	.	.	.	.	.	.	.	.	.	G	52	19.438016	0.99919	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	.	.	.	5.49	2.32	0.28847	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.1369	0.53977	0.0:0.0:0.4024:0.5975	.	.	.	.	X	2839;2834	.	ENSP00000357330:R2839X	R	-	1	2	ASH1L	153575744	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	2.514000	0.45503	0.842000	0.35045	0.655000	0.94253	CGA		0.468	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489	Nonsense_Mutation	4	106	0	0	0	1	0	4	106				
FZD2	2535	broad.mit.edu	37	17	42636025	42636025	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:42636025G>A	ENST00000315323.3	+	1	1101	c.969G>A	c.(967-969)aaG>aaA	p.K323K		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	323					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cell-cell signaling (GO:0007267)|cochlea morphogenesis (GO:0090103)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|inner ear receptor cell development (GO:0060119)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|sensory perception of smell (GO:0007608)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		AGGGCACCAAGAAGGAGGGCT	0.622																																						ENST00000315323.3																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33						c.(967-969)aaG>aaA		frizzled family receptor 2							84.0	76.0	79.0					17																	42636025		2203	4300	6503	SO:0001819	synonymous_variant	2535				axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr17:42636025G>A	L37882	CCDS11484.1	17q21.1	2014-01-29	2014-01-29			ENSG00000180340		"""GPCR / Class F : Frizzled receptors"""	4040	protein-coding gene	gene with protein product		600667	"""frizzled (Drosophila) homolog 2"", ""frizzled homolog 2 (Drosophila)"", ""frizzled 2, seven transmembrane spanning receptor"", ""frizzled family receptor 2"""			7558010, 9813155	Standard	NM_001466		Approved		uc002igx.2	Q14332		ENST00000315323.3:c.969G>A	17.37:g.42636025G>A							p.K323K	NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	1	1101	+		Prostate(33;0.0181)	323					Q0VG82	Silent	SNP	ENST00000315323.3	37	c.969G>A	CCDS11484.1																																																																																				0.622	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457806.1	NM_001466		12	46	0	0	0	1	0	12	46				
GGH	8836	broad.mit.edu	37	8	63948295	63948295	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr8:63948295C>G	ENST00000260118.6	-	2	546	c.144G>C	c.(142-144)atG>atC	p.M48I		NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	48	Gamma-glutamyl hydrolase. {ECO:0000255|PROSITE-ProRule:PRU00607}.				glutamine metabolic process (GO:0006541)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	exopeptidase activity (GO:0008238)|gamma-glutamyl-peptidase activity (GO:0034722)|omega peptidase activity (GO:0008242)			breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|Methotrexate(DB00563)	CATAGTTTTTCATGACTTTAT	0.323																																						ENST00000260118.6																			0				breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11						c.(142-144)atG>atC		gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	Folic Acid(DB00158)|L-Glutamic Acid(DB00142)						97.0	93.0	94.0					8																	63948295		2203	4300	6503	SO:0001583	missense	8836				glutamine metabolic process	extracellular space|lysosome|melanosome	gamma-glutamyl-peptidase activity	g.chr8:63948295C>G	U55206	CCDS6177.1	8q12.3	2008-02-05			ENSG00000137563	ENSG00000137563	3.4.19.9		4248	protein-coding gene	gene with protein product		601509				8816764, 10570974	Standard	NM_003878		Approved		uc003xuw.3	Q92820	OTTHUMG00000164365	ENST00000260118.6:c.144G>C	8.37:g.63948295C>G	ENSP00000260118:p.Met48Ile						p.M48I	NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN			2	546	-	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)	48			Gamma-glutamyl hydrolase.			Missense_Mutation	SNP	ENST00000260118.6	37	c.144G>C	CCDS6177.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.579953	0.28180	.	.	ENSG00000137563	ENST00000260118;ENST00000517622	T	0.32988	1.43	6.11	3.87	0.44632	.	0.447164	0.28290	N	0.015893	T	0.23054	0.0557	L	0.42632	1.34	0.09310	N	1	B	0.12013	0.005	B	0.13407	0.009	T	0.05937	-1.0855	10	0.21540	T	0.41	-20.6387	9.498	0.38999	0.0:0.7074:0.2127:0.0799	.	48	Q92820	GGH_HUMAN	I	48;9	ENSP00000260118:M48I	ENSP00000260118:M48I	M	-	3	0	GGH	64110849	0.016000	0.18221	0.159000	0.22649	0.090000	0.18270	0.295000	0.19065	2.907000	0.99374	0.609000	0.83330	ATG		0.323	GGH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378453.1			11	65	0	0	0	1	0	11	65				
LINS	55180	broad.mit.edu	37	15	101120961	101120961	+	Missense_Mutation	SNP	G	G	C	rs144523618		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr15:101120961G>C	ENST00000314742.8	-	2	309	c.87C>G	c.(85-87)atC>atG	p.I29M	LINS_ENST00000561308.1_Missense_Mutation_p.I29M|LINS_ENST00000559149.1_5'UTR|LINS_ENST00000560133.1_Intron	NM_001040616.2	NP_001035706	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	29			I -> V (in dbSNP:rs11247226). {ECO:0000269|PubMed:14702039}.							central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						TGAGATAAAAGATGTAATCAT	0.413																																						ENST00000314742.8																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						c.(85-87)atC>atG		lines homolog (Drosophila)		G	MET/ILE	2,4404	4.2+/-10.8	0,2,2201	66.0	61.0	62.0		87	3.6	0.6	15	dbSNP_134	62	0,8600		0,0,4300	no	missense	LINS	NM_001040616.2	10	0,2,6501	CC,CG,GG		0.0,0.0454,0.0154	possibly-damaging	29/758	101120961	2,13004	2203	4300	6503	SO:0001583	missense	55180							g.chr15:101120961G>C	AK095448	CCDS10385.1	15q26.3	2010-09-08	2010-09-08	2010-09-08	ENSG00000140471	ENSG00000140471			30922	protein-coding gene	gene with protein product		610350	"""lines homolog 1 (Drosophila)"""	LINS1		12119551, 8889548	Standard	NM_001040616		Approved	WINS1	uc002bwg.3	Q8NG48	OTTHUMG00000149865	ENST00000314742.8:c.87C>G	15.37:g.101120961G>C	ENSP00000318423:p.Ile29Met					LINS_ENST00000560133.1_Intron|LINS_ENST00000561308.1_Missense_Mutation_p.I29M|LINS_ENST00000559149.1_5'UTR	p.I29M	NM_001040616.2	NP_001035706.1	Q8NG48	LINES_HUMAN			2	309	-			29		I -> V (in dbSNP:rs11247226).			Q96FW2|Q9NVQ3	Missense_Mutation	SNP	ENST00000314742.8	37	c.87C>G	CCDS10385.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.429500	0.43122	4.54E-4	0.0	ENSG00000140471	ENST00000314742	T	0.23348	1.91	5.63	3.6	0.41247	.	1.128080	0.06487	N	0.733828	T	0.28962	0.0719	L	0.29908	0.895	0.21652	N	0.999601	P;D	0.53151	0.874;0.958	B;P	0.51135	0.444;0.66	T	0.17319	-1.0373	10	0.54805	T	0.06	0.0042	8.4876	0.33080	0.0817:0.0:0.696:0.2223	.	29;29	Q8NG48-2;Q8NG48	.;LINES_HUMAN	M	29	ENSP00000318423:I29M	ENSP00000318423:I29M	I	-	3	3	LINS	98938484	0.075000	0.21258	0.594000	0.28785	0.580000	0.36256	1.890000	0.39728	2.634000	0.89283	0.650000	0.86243	ATC		0.413	LINS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313592.1	NM_018148		9	17	0	0	0	1	0	9	17				
ADAMTS19	171019	broad.mit.edu	37	5	128862009	128862009	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:128862009G>C	ENST00000274487.4	+	4	1073	c.928G>C	c.(928-930)Gaa>Caa	p.E310Q	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	310						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AAAAATAGCAGAAAGTGGAAG	0.358																																						ENST00000274487.4																			0				NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91						c.(928-930)Gaa>Caa		ADAM metallopeptidase with thrombospondin type 1 motif, 19							73.0	69.0	70.0					5																	128862009		2203	4300	6503	SO:0001583	missense	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:128862009G>C	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.928G>C	5.37:g.128862009G>C	ENSP00000274487:p.Glu310Gln					CTC-575N7.1_ENST00000503616.1_RNA	p.E310Q	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	4	1073	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	310						Missense_Mutation	SNP	ENST00000274487.4	37	c.928G>C	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.909810	0.52439	.	.	ENSG00000145808	ENST00000274487	T	0.66638	-0.22	4.45	4.45	0.53987	.	0.069139	0.53938	D	0.000045	T	0.51534	0.1680	N	0.19112	0.55	0.36177	D	0.849152	B	0.23316	0.083	B	0.15870	0.014	T	0.52472	-0.8571	9	.	.	.	.	18.413	0.90558	0.0:0.0:1.0:0.0	.	310	Q8TE59	ATS19_HUMAN	Q	310	ENSP00000274487:E310Q	.	E	+	1	0	ADAMTS19	128889908	1.000000	0.71417	0.998000	0.56505	0.930000	0.56654	7.073000	0.76784	2.765000	0.95021	0.557000	0.71058	GAA		0.358	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		14	38	0	0	0	1	0	14	38				
GJA10	84694	broad.mit.edu	37	6	90604393	90604393	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:90604393C>A	ENST00000369352.1	+	1	206	c.206C>A	c.(205-207)gCa>gAa	p.A69E		NM_032602.1	NP_115991.1	P57773	CXA9_HUMAN	gap junction protein, alpha 10, 62kDa	69					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		TATGATGATGCATTCCCTATC	0.473																																						ENST00000369352.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37						c.(205-207)gCa>gAa		gap junction protein, alpha 10, 62kDa							150.0	117.0	128.0					6																	90604393		2203	4300	6503	SO:0001583	missense	84694				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	g.chr6:90604393C>A	AF296766	CCDS5025.1	6q15-q16	2008-02-05			ENSG00000135355	ENSG00000135355		"""Ion channels / Gap junction proteins (connexins)"""	16995	protein-coding gene	gene with protein product	"""connexin 62"""	611924					Standard	NM_032602		Approved	CX62	uc011eaa.2	Q969M2	OTTHUMG00000015210	ENST00000369352.1:c.206C>A	6.37:g.90604393C>A	ENSP00000358358:p.Ala69Glu						p.A69E	NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0915)	1	206	+		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)	69					B2R722|B3KVQ2|Q5TA63|Q96KG0	Missense_Mutation	SNP	ENST00000369352.1	37	c.206C>A	CCDS5025.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.462962	0.84425	.	.	ENSG00000135355	ENST00000369352	D	0.99150	-5.49	4.8	4.8	0.61643	Connexin, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.99363	0.9776	M	0.87269	2.87	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99056	1.0829	10	0.66056	D	0.02	.	18.0466	0.89334	0.0:1.0:0.0:0.0	.	69	Q969M2	CXA10_HUMAN	E	69	ENSP00000358358:A69E	ENSP00000358358:A69E	A	+	2	0	GJA10	90661114	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.503000	0.81632	2.511000	0.84671	0.563000	0.77884	GCA		0.473	GJA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041505.1	NM_032602		9	38	1	0	6.40141e-05	1	6.47499e-05	9	38				
ZNF839	55778	broad.mit.edu	37	14	102792787	102792787	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr14:102792787C>T	ENST00000558850.1	+	2	756	c.406C>T	c.(406-408)Cgg>Tgg	p.R136W	ZNF839_ENST00000559185.1_Missense_Mutation_p.R136W|ZNF839_ENST00000442396.2_Missense_Mutation_p.R252W|ZNF839_ENST00000262236.5_Missense_Mutation_p.R136W	NM_001267827.1	NP_001254756.1	A8K0R7	ZN839_HUMAN	zinc finger protein 839	136							metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						ACGTTCTGGACGGGTATCTCG	0.368																																						ENST00000262236.5																			0				breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(406-408)Cgg>Tgg		zinc finger protein 839							39.0	38.0	38.0					14																	102792787		1853	4092	5945	SO:0001583	missense	55778					intracellular	zinc ion binding	g.chr14:102792787C>T	AK093342	CCDS45164.1, CCDS58336.1	14q32.32	2010-05-06	2008-06-23	2008-06-23	ENSG00000022976	ENSG00000022976			20345	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 131"""	C14orf131			Standard	NM_018335		Approved		uc010awk.2	A8K0R7		ENST00000558850.1:c.406C>T	14.37:g.102792787C>T	ENSP00000453363:p.Arg136Trp					ZNF839_ENST00000559185.1_Missense_Mutation_p.R136W|ZNF839_ENST00000558850.1_Missense_Mutation_p.R136W|ZNF839_ENST00000442396.2_Missense_Mutation_p.R252W	p.R136W	NM_018335.4	NP_060805.3	A8K0R7	ZN839_HUMAN			2	761	+			136					B3KSD2|Q53FH5|Q6GPI5|Q86TU1|Q9BQ86|Q9NUU3	Missense_Mutation	SNP	ENST00000558850.1	37	c.406C>T	CCDS58336.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.411667	0.83340	.	.	ENSG00000022976	ENST00000442396;ENST00000262236	T;T	0.51574	0.7;0.7	5.08	4.13	0.48395	.	0.369350	0.13313	U	0.397305	T	0.66519	0.2797	M	0.65975	2.015	0.40788	D	0.983237	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.68318	-0.5440	10	0.87932	D	0	.	13.1414	0.59436	0.2723:0.7277:0.0:0.0	.	252;136;15;136	A8K0R7-5;A8K0R7-2;Q9NT83;A8K0R7	.;.;.;ZN839_HUMAN	W	252;136	ENSP00000399863:R252W;ENSP00000262236:R136W	ENSP00000262236:R136W	R	+	1	2	ZNF839	101862540	0.996000	0.38824	1.000000	0.80357	0.957000	0.61999	3.281000	0.51685	2.395000	0.81488	0.650000	0.86243	CGG		0.368	ZNF839-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415492.2	NM_018335		12	34	0	0	0	1	0	12	34				
DPP9	91039	broad.mit.edu	37	19	4714208	4714208	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:4714208G>A	ENST00000598800.1	-	5	616	c.111C>T	c.(109-111)atC>atT	p.I37I	DPP9_ENST00000262960.9_Silent_p.I66I|DPP9_ENST00000594671.1_Silent_p.I37I|DPP9_ENST00000597849.1_Silent_p.I66I			Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	37						cytoplasm (GO:0005737)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|identical protein binding (GO:0042802)|serine-type peptidase activity (GO:0008236)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		TGCCGTGGATGATGCTCCGGA	0.672																																						ENST00000262960.9																			0				cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(196-198)atC>atT		dipeptidyl-peptidase 9							25.0	29.0	28.0					19																	4714208		1972	4131	6103	SO:0001819	synonymous_variant	91039				proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity	g.chr19:4714208G>A	AF452102	CCDS45928.1	19p13.3	2014-06-11	2006-01-12		ENSG00000142002	ENSG00000142002			18648	protein-coding gene	gene with protein product		608258	"""dipeptidylpeptidase 9"""				Standard	NM_139159		Approved		uc002mba.3	Q86TI2	OTTHUMG00000182040	ENST00000598800.1:c.111C>T	19.37:g.4714208G>A						DPP9_ENST00000598800.1_Silent_p.I37I|DPP9_ENST00000597849.1_Silent_p.I66I|DPP9_ENST00000594671.1_Silent_p.I37I	p.I66I	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)	4	475	-		Hepatocellular(1079;0.137)	37					O75273|O75868|Q1ZZB8|Q6AI37|Q6UAL0|Q6ZMT2|Q6ZNJ5|Q8N2J7|Q8N3F5|Q8WXD8|Q96NT8|Q9BVR3	Silent	SNP	ENST00000598800.1	37	c.198C>T																																																																																					0.672	DPP9-026	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000459343.2			6	14	0	0	0	1	0	6	14				
PMP22	5376	broad.mit.edu	37	17	15134242	15134242	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:15134242G>A	ENST00000395938.2	-	5	669	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C	PMP22_ENST00000395936.1_3'UTR|PMP22_ENST00000312280.3_Missense_Mutation_p.R159C|PMP22_ENST00000494511.1_Missense_Mutation_p.T99M	NM_001281455.1|NM_153321.1	NP_001268384.1|NP_696996.1	Q01453	PMP22_HUMAN	peripheral myelin protein 22	159					cell death (GO:0008219)|peripheral nervous system development (GO:0007422)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8				UCEC - Uterine corpus endometrioid carcinoma (92;0.0884)|BRCA - Breast invasive adenocarcinoma(8;4.92e-06)		CCTCATTCGCGTTTCCGCAAG	0.547																																						ENST00000395938.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8						c.(475-477)Cgc>Tgc		peripheral myelin protein 22							82.0	79.0	80.0					17																	15134242		2203	4300	6503	SO:0001583	missense	5376				peripheral nervous system development|synaptic transmission	integral to membrane		g.chr17:15134242G>A	D11428	CCDS11168.1	17p12	2014-09-17			ENSG00000109099	ENSG00000109099			9118	protein-coding gene	gene with protein product		601097				8482547, 1497668	Standard	NM_001281456		Approved	HNPP, GAS-3, Sp110	uc002goj.3	Q01453	OTTHUMG00000058960	ENST00000395938.2:c.475C>T	17.37:g.15134242G>A	ENSP00000379269:p.Arg159Cys					PMP22_ENST00000312280.3_Missense_Mutation_p.R159C|PMP22_ENST00000494511.1_Missense_Mutation_p.T99M|PMP22_ENST00000395936.1_3'UTR	p.R159C	NM_153321.1	NP_696996.1	Q01453	PMP22_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0884)|BRCA - Breast invasive adenocarcinoma(8;4.92e-06)	5	669	-			159					Q8WV01	Missense_Mutation	SNP	ENST00000395938.2	37	c.475C>T	CCDS11168.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.619777	0.87460	.	.	ENSG00000109099	ENST00000395938;ENST00000312280;ENST00000426385	D;D	0.96685	-4.09;-4.09	5.05	5.05	0.67936	.	0.053010	0.85682	D	0.000000	D	0.98251	0.9421	M	0.84585	2.705	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.99146	1.0857	10	0.87932	D	0	-29.4517	18.1907	0.89806	0.0:0.0:1.0:0.0	.	159	Q01453	PMP22_HUMAN	C	159;159;148	ENSP00000379269:R159C;ENSP00000308937:R159C	ENSP00000308937:R159C	R	-	1	0	PMP22	15074967	1.000000	0.71417	0.993000	0.49108	0.993000	0.82548	9.075000	0.94004	2.630000	0.89119	0.563000	0.77884	CGC		0.547	PMP22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130378.1	NM_000304		35	69	0	0	0	1	0	35	69				
RAD54B	25788	broad.mit.edu	37	8	95392501	95392501	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr8:95392501T>C	ENST00000336148.5	-	12	2243	c.2119A>G	c.(2119-2121)Aac>Gac	p.N707D		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	707	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			TGTTGACTGTTAAAGCCATCA	0.358								Direct reversal of damage;Homologous recombination																														ENST00000336148.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2119-2121)Aac>Gac	Direct reversal of damage;Homologous recombination	RAD54 homolog B (S. cerevisiae)							121.0	106.0	111.0					8																	95392501		2203	4300	6503	SO:0001583	missense	25788				double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding	g.chr8:95392501T>C	AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.2119A>G	8.37:g.95392501T>C	ENSP00000336606:p.Asn707Asp						p.N707D	NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00217)		12	2243	-	Breast(36;4.5e-05)		0					F6WBS8	Missense_Mutation	SNP	ENST00000336148.5	37	c.2119A>G	CCDS6262.1	.	.	.	.	.	.	.	.	.	.	T	28.9	4.958794	0.92726	.	.	ENSG00000197275	ENST00000336148;ENST00000546218	T	0.78126	-1.15	5.83	5.83	0.93111	Helicase, C-terminal (3);	0.129432	0.64402	D	0.000007	D	0.92270	0.7548	H	0.97365	3.99	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.94701	0.7883	10	0.87932	D	0	-28.3858	14.7657	0.69637	0.0:0.0:0.0:1.0	.	707	Q9Y620	RA54B_HUMAN	D	707;379	ENSP00000336606:N707D	ENSP00000336606:N707D	N	-	1	0	RAD54B	95461677	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.841000	0.86834	2.228000	0.72767	0.528000	0.53228	AAC		0.358	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257806.3	NM_012415		11	38	0	0	0	1	0	11	38				
RAP1GAP	5909	broad.mit.edu	37	1	21928211	21928211	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:21928211G>C	ENST00000374765.4	-	20	1818	c.1618C>G	c.(1618-1620)Cag>Gag	p.Q540E	RAP1GAP_ENST00000290101.4_Missense_Mutation_p.Q604E|RAP1GAP_ENST00000374763.2_Missense_Mutation_p.Q625E|RAP1GAP_ENST00000374761.2_Missense_Mutation_p.Q571E|RAP1GAP_ENST00000542643.2_Missense_Mutation_p.Q566E	NM_002885.2	NP_002876.2	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	540					GTP catabolic process (GO:0006184)|positive regulation of Rap GTPase activity (GO:0032854)|regulation of Ras GTPase activity (GO:0032318)|signal transduction (GO:0007165)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)|Rap GTPase activator activity (GO:0046582)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		GGGGAGCTCTGAGTGGATGAG	0.667																																						ENST00000542643.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17						c.(1696-1698)Cag>Gag		RAP1 GTPase activating protein							96.0	87.0	90.0					1																	21928211		2203	4300	6503	SO:0001583	missense	5909				regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding	g.chr1:21928211G>C	BC054490	CCDS218.1, CCDS53276.1, CCDS53277.1	1p36.1-p35	2009-09-14	2006-04-12	2006-04-12	ENSG00000076864	ENSG00000076864			9858	protein-coding gene	gene with protein product		600278	"""RAP1, GTPase activating protein 1"""	RAP1GA1		1904317	Standard	NM_001145657		Approved	KIAA0474, RAP1GAP1, RAP1GAPII	uc001bew.3	P47736	OTTHUMG00000007513	ENST00000374765.4:c.1618C>G	1.37:g.21928211G>C	ENSP00000363897:p.Gln540Glu					RAP1GAP_ENST00000374763.2_Missense_Mutation_p.Q625E|RAP1GAP_ENST00000374761.2_Missense_Mutation_p.Q571E|RAP1GAP_ENST00000374765.4_Missense_Mutation_p.Q540E|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.Q604E	p.Q566E	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)	22	1998	-		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	540					J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51	Missense_Mutation	SNP	ENST00000374765.4	37	c.1696C>G	CCDS218.1	.	.	.	.	.	.	.	.	.	.	g	16.79	3.220695	0.58560	.	.	ENSG00000076864	ENST00000290101;ENST00000374761;ENST00000542643;ENST00000374765;ENST00000374763;ENST00000374758	D;D;D;D	0.89343	-2.45;-2.44;-2.5;-2.44	4.72	4.72	0.59763	.	0.855704	0.10255	N	0.696718	D	0.83653	0.5301	L	0.47716	1.5	0.43885	D	0.996509	P;B;B;B	0.42692	0.787;0.435;0.195;0.435	B;B;B;B	0.36567	0.228;0.057;0.089;0.057	T	0.78788	-0.2067	10	0.06757	T	0.87	-27.3614	15.211	0.73225	0.0:0.0:1.0:0.0	.	566;540;570;540	P47736-2;P47736;P47736-3;Q7Z5S8	.;RPGP1_HUMAN;.;.	E	604;571;566;540;570;625	ENSP00000290101:Q604E;ENSP00000363893:Q571E;ENSP00000441661:Q566E;ENSP00000363897:Q540E	ENSP00000290101:Q604E	Q	-	1	0	RAP1GAP	21800798	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.866000	0.92307	2.452000	0.82932	0.556000	0.70494	CAG		0.667	RAP1GAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019759.2	NM_002885		10	36	0	0	0	1	0	10	36				
CR1	1378	broad.mit.edu	37	1	207793300	207793300	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:207793300G>C	ENST00000367049.4	+	43	7142	c.7142G>C	c.(7141-7143)gGa>gCa	p.G2381A	CR1_ENST00000367051.1_Missense_Mutation_p.G1931A|CR1_ENST00000367052.1_Missense_Mutation_p.G1931A|CR1_ENST00000367053.1_Missense_Mutation_p.G1931A|CR1_ENST00000400960.2_Missense_Mutation_p.G1931A	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1931					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TATCACTATGGAGATTATGTG	0.423																																						ENST00000367049.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(7141-7143)gGa>gCa		complement component (3b/4b) receptor 1 (Knops blood group)							68.0	71.0	70.0					1																	207793300		2066	4236	6302	SO:0001583	missense	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207793300G>C	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.7142G>C	1.37:g.207793300G>C	ENSP00000356016:p.Gly2381Ala					CR1_ENST00000367053.1_Missense_Mutation_p.G1931A|CR1_ENST00000367051.1_Missense_Mutation_p.G1931A|CR1_ENST00000400960.2_Missense_Mutation_p.G1931A|CR1_ENST00000367052.1_Missense_Mutation_p.G1931A	p.G2381A	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN			43	7142	+			1931					Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	37	c.7142G>C	CCDS44308.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.51|12.51	1.959802|1.959802	0.34565|0.34565	.|.	.|.	ENSG00000203710|ENSG00000203710	ENST00000529814|ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049	.|T;T;T;T;T	.|0.72394	.|-0.65;-0.65;-0.65;-0.65;-0.65	4.6|4.6	3.69|3.69	0.42338|0.42338	.|Complement control module (2);Sushi/SCR/CCP (3);	.|.	.|.	.|.	.|.	D|D	0.86657|0.86657	0.5985|0.5985	H|H	0.94620|0.94620	3.56|3.56	0.09310|0.09310	N|N	0.999996|0.999996	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.997;0.998	T|T	0.76418|0.76418	-0.2966|-0.2966	5|9	.|0.59425	.|D	.|0.04	.|.	8.6639|8.6639	0.34110|0.34110	0.1044:0.0:0.8956:0.0|0.1044:0.0:0.8956:0.0	.|.	.|1931;2381	.|P17927;E9PDY4	.|CR1_HUMAN;.	Q|A	554|1931;1931;1931;1931;2381	.|ENSP00000356019:G1931A;ENSP00000356018:G1931A;ENSP00000356020:G1931A;ENSP00000383744:G1931A;ENSP00000356016:G2381A	.|ENSP00000356016:G2381A	E|G	+|+	1|2	0|0	CR1|CR1	205859923|205859923	1.000000|1.000000	0.71417|0.71417	0.326000|0.326000	0.25389|0.25389	0.181000|0.181000	0.23173|0.23173	1.185000|1.185000	0.32065|0.32065	1.288000|1.288000	0.44600|0.44600	0.650000|0.650000	0.86243|0.86243	GAG|GGA		0.423	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		5	21	0	0	0	1	0	5	21				
ITPR1	3708	broad.mit.edu	37	3	4715998	4715998	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:4715998G>A	ENST00000443694.2	+	19	2524	c.2524G>A	c.(2524-2526)Gat>Aat	p.D842N	ITPR1_ENST00000302640.8_Missense_Mutation_p.D842N|ITPR1_ENST00000456211.2_Missense_Mutation_p.D842N|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Missense_Mutation_p.D857N|ITPR1_ENST00000357086.4_Missense_Mutation_p.D857N|ITPR1_ENST00000423119.2_Missense_Mutation_p.D857N			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	857					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	CCCTTTCTCTGATAAAGAGAA	0.388																																						ENST00000354582.6																			0				NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(2569-2571)Gat>Aat		inositol 1,4,5-trisphosphate receptor, type 1							125.0	119.0	121.0					3																	4715998		1837	4086	5923	SO:0001583	missense	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4715998G>A	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.2524G>A	3.37:g.4715998G>A	ENSP00000401671:p.Asp842Asn					ITPR1_ENST00000423119.2_Missense_Mutation_p.D857N|ITPR1_ENST00000456211.2_Missense_Mutation_p.D842N|ITPR1_ENST00000443694.2_Missense_Mutation_p.D842N|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000302640.8_Missense_Mutation_p.D842N|ITPR1_ENST00000357086.4_Missense_Mutation_p.D857N	p.D857N			Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	22	2919	+			857					E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.2569G>A	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.845359	0.51164	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.91407	-2.83;-2.84;-2.82;-2.82;-2.82;-2.83	5.5	4.63	0.57726	.	0.044594	0.85682	D	0.000000	D	0.92358	0.7575	L	0.55990	1.75	0.80722	D	1	B;P;B	0.52316	0.027;0.952;0.019	B;P;B	0.58577	0.094;0.841;0.075	D	0.91494	0.5214	10	0.37606	T	0.19	.	14.1897	0.65630	0.0711:0.0:0.9289:0.0	.	842;857;857	E7EPX7;Q14643;G5E9P1	.;ITPR1_HUMAN;.	N	857;842;857;857;857;842;842	ENSP00000306253:D842N;ENSP00000346595:D857N;ENSP00000405934:D857N;ENSP00000349597:D857N;ENSP00000397885:D842N;ENSP00000401671:D842N	ENSP00000306253:D842N	D	+	1	0	ITPR1	4690998	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.155000	0.71833	1.545000	0.49373	0.655000	0.94253	GAT		0.388	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		3	19	0	0	0	1	0	3	19				
ST5	6764	broad.mit.edu	37	11	8739320	8739320	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:8739320G>A	ENST00000534127.1	-	8	1982	c.1597C>T	c.(1597-1599)Cag>Tag	p.Q533*	ST5_ENST00000357665.1_Nonsense_Mutation_p.Q533*|ST5_ENST00000530991.1_Nonsense_Mutation_p.Q5*|ST5_ENST00000526099.1_Nonsense_Mutation_p.Q46*|ST5_ENST00000526757.1_Nonsense_Mutation_p.Q113*|ST5_ENST00000313726.6_Nonsense_Mutation_p.Q533*|ST5_ENST00000530438.1_Nonsense_Mutation_p.Q113*	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	533					positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		TTCCTGTCCTGAGGACTCCAC	0.552																																						ENST00000534127.1																			0				NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(1597-1599)Cag>Tag		suppression of tumorigenicity 5							175.0	129.0	144.0					11																	8739320		2201	4296	6497	SO:0001587	stop_gained	6764				positive regulation of ERK1 and ERK2 cascade		protein binding	g.chr11:8739320G>A	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.1597C>T	11.37:g.8739320G>A	ENSP00000433528:p.Gln533*					ST5_ENST00000526099.1_Nonsense_Mutation_p.Q46*|ST5_ENST00000530438.1_Nonsense_Mutation_p.Q113*|ST5_ENST00000526757.1_Nonsense_Mutation_p.Q113*|ST5_ENST00000357665.1_Nonsense_Mutation_p.Q533*|ST5_ENST00000530991.1_Nonsense_Mutation_p.Q5*|ST5_ENST00000313726.6_Nonsense_Mutation_p.Q533*	p.Q533*	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	8	1982	-			533					B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Nonsense_Mutation	SNP	ENST00000534127.1	37	c.1597C>T	CCDS7791.1	.	.	.	.	.	.	.	.	.	.	G	41	8.943722	0.99012	.	.	ENSG00000166444	ENST00000526757;ENST00000534127;ENST00000313726;ENST00000530991;ENST00000357665;ENST00000526099;ENST00000530438;ENST00000533020;ENST00000447053;ENST00000530593;ENST00000528527;ENST00000531060;ENST00000526057;ENST00000528196;ENST00000527510;ENST00000530580	.	.	.	5.7	5.7	0.88788	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-14.7337	18.0276	0.89273	0.0:0.0:1.0:0.0	.	.	.	.	X	113;533;533;5;533;46;113;5;143;5;5;22;5;113;113;113	.	ENSP00000319678:Q533X	Q	-	1	0	ST5	8695896	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.163000	0.77524	2.688000	0.91661	0.655000	0.94253	CAG		0.552	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418		14	42	0	0	0	1	0	14	42				
PFKL	5211	broad.mit.edu	37	21	45736388	45736388	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr21:45736388C>T	ENST00000349048.4	+	9	972	c.917C>T	c.(916-918)tCt>tTt	p.S306F	PFKL_ENST00000403390.1_Missense_Mutation_p.S353F	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver	306	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of insulin secretion (GO:0046676)|protein homotetramerization (GO:0051289)|protein oligomerization (GO:0051259)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|fructose-6-phosphate binding (GO:0070095)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		GGGACGCCCTCTGCCTTCGAC	0.657																																						ENST00000403390.1																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(1057-1059)tCt>tTt		phosphofructokinase, liver							97.0	67.0	77.0					21																	45736388		2203	4299	6502	SO:0001583	missense	5211				fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding	g.chr21:45736388C>T		CCDS33582.1	21q22.3	1992-12-17			ENSG00000141959	ENSG00000141959	2.7.1.11		8876	protein-coding gene	gene with protein product		171860					Standard	NR_024108		Approved		uc002zel.3	P17858	OTTHUMG00000086910	ENST00000349048.4:c.917C>T	21.37:g.45736388C>T	ENSP00000269848:p.Ser306Phe					PFKL_ENST00000349048.4_Missense_Mutation_p.S306F	p.S353F			P17858	K6PL_HUMAN		Colorectal(79;0.0811)	10	1058	+			306					Q96A64|Q96IH4|Q9BR91	Missense_Mutation	SNP	ENST00000349048.4	37	c.1058C>T	CCDS33582.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.484498	0.63962	.	.	ENSG00000141959	ENST00000349048;ENST00000534847;ENST00000403390	D;D	0.84223	-1.82;-1.82	4.34	4.34	0.51931	Phosphofructokinase domain (2);Phosphofructokinase, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.95771	0.8624	H	0.99130	4.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97900	1.0302	10	0.87932	D	0	-10.5761	15.6184	0.76787	0.0:1.0:0.0:0.0	.	306;353	P17858;P17858-2	K6PL_HUMAN;.	F	306;99;353	ENSP00000269848:S306F;ENSP00000384038:S353F	ENSP00000269848:S306F	S	+	2	0	PFKL	44560816	1.000000	0.71417	0.920000	0.36463	0.380000	0.30137	7.184000	0.77705	1.961000	0.56991	0.313000	0.20887	TCT		0.657	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195805.1			13	56	0	0	0	1	0	13	56				
PAK2	5062	broad.mit.edu	37	3	196529932	196529932	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:196529932C>G	ENST00000327134.3	+	4	655	c.333C>G	c.(331-333)atC>atG	p.I111M		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	111	Autoregulatory region. {ECO:0000250}.|GTPase-binding. {ECO:0000250}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		CCTCCAATATCACCAAACTAG	0.393																																						ENST00000327134.3																			0				breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12						c.(331-333)atC>atG		p21 protein (Cdc42/Rac)-activated kinase 2							97.0	85.0	89.0					3																	196529932		2203	4300	6503	SO:0001583	missense	5062				axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity	g.chr3:196529932C>G	U24153	CCDS3321.1	3q29	2008-06-17	2008-06-17			ENSG00000180370	2.7.11.1		8591	protein-coding gene	gene with protein product	"""S6/H4 kinase"""	605022	"""p21 (CDKN1A)-activated kinase 2"""			7744004, 7618083	Standard	NM_002577		Approved	PAK65, PAKgamma	uc003fwy.4	Q13177		ENST00000327134.3:c.333C>G	3.37:g.196529932C>G	ENSP00000314067:p.Ile111Met						p.I111M	NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)	4	655	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		111			Autoregulatory region (By similarity).|GTPase-binding (By similarity).		Q13154|Q6ISC3	Missense_Mutation	SNP	ENST00000327134.3	37	c.333C>G	CCDS3321.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.315401	0.60524	.	.	ENSG00000180370	ENST00000327134	D	0.89746	-2.56	5.51	2.6	0.31112	PAK-box/P21-Rho-binding (1);	0.046322	0.85682	D	0.000000	D	0.93517	0.7931	H	0.94964	3.605	0.58432	D	0.999991	P	0.38370	0.628	P	0.51974	0.686	D	0.90903	0.4770	10	0.72032	D	0.01	.	4.8323	0.13447	0.3019:0.5397:0.0:0.1584	.	111	Q13177	PAK2_HUMAN	M	111	ENSP00000314067:I111M	ENSP00000314067:I111M	I	+	3	3	PAK2	198014329	1.000000	0.71417	0.975000	0.42487	0.986000	0.74619	0.818000	0.27295	0.236000	0.21180	0.563000	0.77884	ATC		0.393	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340548.1	NM_002577		11	57	0	0	0	1	0	11	57				
NQO1	1728	broad.mit.edu	37	16	69752046	69752046	+	Missense_Mutation	SNP	C	C	T	rs541026990	byFrequency	TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr16:69752046C>T	ENST00000320623.5	-	3	794	c.283G>A	c.(283-285)Gca>Aca	p.A95T	NQO1_ENST00000439109.2_Missense_Mutation_p.A95T|NQO1_ENST00000561500.1_Missense_Mutation_p.A95T|NQO1_ENST00000564043.1_Missense_Mutation_p.A74T|NQO1_ENST00000379046.2_Missense_Mutation_p.A95T|NQO1_ENST00000379047.3_Missense_Mutation_p.A95T	NM_000903.2	NP_000894.1	P15559	NQO1_HUMAN	NAD(P)H dehydrogenase, quinone 1	95					aging (GO:0007568)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cellular amino acid metabolic process (GO:0006521)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|synaptic transmission, cholinergic (GO:0007271)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|NAD(P)H dehydrogenase (quinone) activity (GO:0003955)|poly(A) RNA binding (GO:0044822)|superoxide dismutase activity (GO:0004784)			autonomic_ganglia(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	10					Carboplatin(DB00958)|Cisplatin(DB00515)|Dicoumarol(DB00266)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|Menadione(DB00170)|Oxaliplatin(DB00526)|Vitamin E(DB00163)	ACAAGGTCTGCGGCTTCCAGC	0.488													C|||	3	0.000599042	0.0	0.0	5008	,	,		19199	0.0		0.0	False		,,,				2504	0.0031					ENST00000320623.5																			0				autonomic_ganglia(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	10						c.(283-285)Gca>Aca		NAD(P)H dehydrogenase, quinone 1	Dicumarol(DB00266)|Menadione(DB00170)						174.0	182.0	180.0					16																	69752046		2198	4300	6498	SO:0001583	missense	1728				nitric oxide biosynthetic process|regulation of cellular amino acid metabolic process|response to toxin|synaptic transmission, cholinergic|xenobiotic metabolic process	cytosol	coenzyme binding|cytochrome-b5 reductase activity|electron carrier activity|NAD(P)H dehydrogenase (quinone) activity	g.chr16:69752046C>T	M81600	CCDS10883.1, CCDS32471.1, CCDS32472.1, CCDS67067.1	16q12-q22	2012-10-02	2001-11-30	2001-12-07	ENSG00000181019	ENSG00000181019	1.6.5.2		2874	protein-coding gene	gene with protein product		125860	"""diaphorase (NADH/NADPH) (cytochrome b-5 reductase)"""	NMOR1, DIA4		2843525	Standard	NM_001286137		Approved	DHQU, QR1, DTD	uc002exp.3	P15559	OTTHUMG00000137575	ENST00000320623.5:c.283G>A	16.37:g.69752046C>T	ENSP00000319788:p.Ala95Thr					NQO1_ENST00000379047.3_Missense_Mutation_p.A95T|NQO1_ENST00000564043.1_Missense_Mutation_p.A74T|NQO1_ENST00000561500.1_Missense_Mutation_p.A95T|NQO1_ENST00000439109.2_Missense_Mutation_p.A95T|NQO1_ENST00000379046.2_Missense_Mutation_p.A95T	p.A95T	NM_000903.2	NP_000894.1	P15559	NQO1_HUMAN			3	794	-			95					B2R5Y9|B4DNM7|B7ZAD1|Q86UK1	Missense_Mutation	SNP	ENST00000320623.5	37	c.283G>A	CCDS10883.1	.	.	.	.	.	.	.	.	.	.	C	35	5.531448	0.96446	.	.	ENSG00000181019	ENST00000320623;ENST00000379047;ENST00000379046;ENST00000439109	T;T;T;T	0.18960	2.18;2.18;2.18;2.18	6.03	5.08	0.68730	Flavodoxin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.54367	0.1854	M	0.89715	3.055	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.992;0.996;0.999	T	0.64960	-0.6284	9	.	.	.	-7.291	15.2408	0.73468	0.0:0.9322:0.0:0.0678	.	95;95;95;95	B4DLR8;B4DNM7;B7ZAD1;P15559	.;.;.;NQO1_HUMAN	T	95	ENSP00000319788:A95T;ENSP00000368335:A95T;ENSP00000368334:A95T;ENSP00000398330:A95T	.	A	-	1	0	NQO1	68309547	1.000000	0.71417	0.989000	0.46669	0.973000	0.67179	5.380000	0.66202	1.562000	0.49601	0.655000	0.94253	GCA		0.488	NQO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268956.2			5	312	0	0	0	1	0	5	312				
MBD6	114785	broad.mit.edu	37	12	57919663	57919663	+	Silent	SNP	G	G	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:57919663G>T	ENST00000355673.3	+	6	1268	c.912G>T	c.(910-912)ctG>ctT	p.L304L	MBD6_ENST00000431731.2_Silent_p.L304L	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	304	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						TGGGGCCCCTGGGAGGGGCCC	0.692																																						ENST00000355673.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						c.(910-912)ctG>ctT		methyl-CpG binding domain protein 6							21.0	28.0	26.0					12																	57919663		2153	4264	6417	SO:0001819	synonymous_variant	114785					chromosome|nucleus	chromatin binding|DNA binding	g.chr12:57919663G>T	AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.912G>T	12.37:g.57919663G>T						MBD6_ENST00000431731.2_Silent_p.L304L	p.L304L	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN			6	1268	+			304			Pro-rich.		Q8N3M0|Q8NA81|Q96Q00	Silent	SNP	ENST00000355673.3	37	c.912G>T	CCDS8944.1																																																																																				0.692	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1			26	63	1	0	2.79863e-10	1	2.9319e-10	26	63				
SPAG16	79582	broad.mit.edu	37	2	215013969	215013969	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:215013969G>A	ENST00000331683.5	+	15	1794	c.1699G>A	c.(1699-1701)Gag>Aag	p.E567K	SPAG16_ENST00000374309.3_Missense_Mutation_p.E473K	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	567					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TCCTGGCAATGAGGTGAATTT	0.388																																						ENST00000331683.5																			0				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56						c.(1699-1701)Gag>Aag		sperm associated antigen 16							162.0	160.0	161.0					2																	215013969		2203	4300	6503	SO:0001583	missense	79582				cilium assembly	cilium axoneme|flagellar axoneme		g.chr2:215013969G>A	AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"""WD repeat domain containing"""	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.1699G>A	2.37:g.215013969G>A	ENSP00000332592:p.Glu567Lys					SPAG16_ENST00000374309.3_Missense_Mutation_p.E473K	p.E567K	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)	15	1794	+		Renal(323;0.00461)	567					Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Missense_Mutation	SNP	ENST00000331683.5	37	c.1699G>A	CCDS2396.1	.	.	.	.	.	.	.	.	.	.	G	11.79	1.745144	0.30955	.	.	ENSG00000144451	ENST00000331683;ENST00000374309;ENST00000451561	T;T;T	0.80738	-1.41;-1.41;-1.41	5.63	4.7	0.59300	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.078314	0.50627	D	0.000101	T	0.70254	0.3203	N	0.11673	0.155	0.36747	D	0.882532	D;B;B;D	0.58620	0.966;0.244;0.011;0.983	P;B;B;P	0.51016	0.505;0.041;0.014;0.656	T	0.70142	-0.4953	10	0.18710	T	0.47	.	13.2278	0.59924	0.0:0.3036:0.6964:0.0	.	473;418;507;567	B4DYB5;Q8N0X2-2;Q4G1A2;Q8N0X2	.;.;.;SPG16_HUMAN	K	567;473;191	ENSP00000332592:E567K;ENSP00000363428:E473K;ENSP00000416600:E191K	ENSP00000332592:E567K	E	+	1	0	SPAG16	214722214	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.040000	0.57333	2.814000	0.96858	0.591000	0.81541	GAG		0.388	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532		14	64	0	0	0	1	0	14	64				
PMS2	5395	broad.mit.edu	37	7	6045564	6045564	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr7:6045564T>A	ENST00000265849.7	-	2	227	c.122A>T	c.(121-123)gAg>gTg	p.E41V	PMS2_ENST00000441476.2_5'Flank|PMS2_ENST00000382321.4_Missense_Mutation_p.E41V|PMS2_ENST00000469652.1_Intron|Y_RNA_ENST00000365120.1_RNA|PMS2_ENST00000406569.3_Missense_Mutation_p.E41V	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	41					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		TTCTACTAACTCCTTTACCGC	0.433			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000265849.7			yes	Rec		"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	7	7p22	5395	"""Mis, N, F"""	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)			E		"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(121-123)gAg>gTg	Direct reversal of damage;Mismatch excision repair (MMR)	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)							305.0	372.0	347.0					7																	6045564		1373	2330	3703	SO:0001583	missense	5395	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding	g.chr7:6045564T>A		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"""postmeiotic segregation increased (S. cerevisiae) 2"""	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.122A>T	7.37:g.6045564T>A	ENSP00000265849:p.Glu41Val					PMS2_ENST00000406569.3_Missense_Mutation_p.E41V|PMS2_ENST00000382321.4_Missense_Mutation_p.E41V|PMS2_ENST00000469652.1_Intron	p.E41V	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)	2	227	-		Ovarian(82;0.0694)	41					B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Missense_Mutation	SNP	ENST00000265849.7	37	c.122A>T	CCDS5343.1	.	.	.	.	.	.	.	.	.	.	T	28.3	4.904401	0.92035	.	.	ENSG00000122512	ENST00000265849;ENST00000382321;ENST00000406569	D;D;D	0.97598	-4.45;-4.45;-4.45	5.67	5.67	0.87782	DNA mismatch repair protein, N-terminal (1);ATPase-like, ATP-binding domain (4);	0.000000	0.85682	D	0.000000	D	0.99281	0.9749	H	0.99609	4.655	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.962;0.999	D	0.98370	1.0553	10	0.87932	D	0	.	15.9013	0.79380	0.0:0.0:0.0:1.0	.	41;41;41	P54278-3;P54278-2;P54278	.;.;PMS2_HUMAN	V	41	ENSP00000265849:E41V;ENSP00000371758:E41V;ENSP00000384308:E41V	ENSP00000265849:E41V	E	-	2	0	PMS2	6012090	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.920000	0.70017	2.151000	0.67156	0.477000	0.44152	GAG		0.433	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	NM_000535		101	276	0	0	0	1	0	101	276				
ZNF440	126070	broad.mit.edu	37	19	11943217	11943217	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:11943217C>G	ENST00000304060.5	+	4	1390	c.1226C>G	c.(1225-1227)tCa>tGa	p.S409*		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	409					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AGATCTGCCTCACACCTTCGA	0.458																																						ENST00000304060.5																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1225-1227)tCa>tGa		zinc finger protein 440							95.0	93.0	93.0					19																	11943217		2203	4300	6503	SO:0001587	stop_gained	126070				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11943217C>G	AK095252	CCDS42503.1	19p13.13	2013-01-08	2006-08-14	2006-08-14	ENSG00000171295	ENSG00000171295		"""Zinc fingers, C2H2-type"", ""-"""	20874	protein-coding gene	gene with protein product							Standard	NM_152357		Approved	FLJ37933	uc002msp.1	Q8IYI8	OTTHUMG00000156403	ENST00000304060.5:c.1226C>G	19.37:g.11943217C>G	ENSP00000305373:p.Ser409*						p.S409*	NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN			4	1390	+			409					Q8N1R9	Nonsense_Mutation	SNP	ENST00000304060.5	37	c.1226C>G	CCDS42503.1	.	.	.	.	.	.	.	.	.	.	c	16.88	3.244922	0.59103	.	.	ENSG00000171295	ENST00000304060	.	.	.	1.19	-2.37	0.06643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	6.091	0.19995	0.1751:0.6081:0.2167:0.0	.	.	.	.	X	409	.	ENSP00000305373:S409X	S	+	2	0	ZNF440	11804217	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-3.937000	0.00330	-0.876000	0.04017	0.205000	0.17691	TCA		0.458	ZNF440-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344508.1	NM_152357		26	75	0	0	0	1	0	26	75				
GIMAP7	168537	broad.mit.edu	37	7	150217650	150217650	+	Silent	SNP	C	C	T	rs76395091		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr7:150217650C>T	ENST00000313543.4	+	2	745	c.588C>T	c.(586-588)aaC>aaT	p.N196N		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	196	AIG1-type G.				GTP catabolic process (GO:0006184)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCAGTGCAACGAAGGGGCTT	0.448													C|||	1	0.000199681	0.0	0.0	5008	,	,		17608	0.001		0.0	False		,,,				2504	0.0					ENST00000313543.4																			0				breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						c.(586-588)aaC>aaT		GTPase, IMAP family member 7							91.0	82.0	85.0					7																	150217650		2203	4300	6503	SO:0001819	synonymous_variant	168537						GTP binding	g.chr7:150217650C>T	BC027613	CCDS5903.1	7q36.1	2014-04-04			ENSG00000179144	ENSG00000179144		"""GTPases, IMAP"""	22404	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 7"""					15474311	Standard	NM_153236		Approved	MGC27027, IAN7	uc003whk.3	Q8NHV1	OTTHUMG00000157626	ENST00000313543.4:c.588C>T	7.37:g.150217650C>T							p.N196N	NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	745	+			196						Silent	SNP	ENST00000313543.4	37	c.588C>T	CCDS5903.1																																																																																				0.448	GIMAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349277.1	NM_153236		14	44	0	0	0	1	0	14	44				
CATIP	375307	broad.mit.edu	37	2	219221871	219221871	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:219221871G>A	ENST00000289388.3	+	2	108	c.79G>A	c.(79-81)Gag>Aag	p.E27K	AC021016.8_ENST00000411433.1_RNA	NM_198559.1	NP_940961.1	Q7Z7H3	CATIP_HUMAN		27					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCACTCCCAGAGGCCAATGC	0.632																																						ENST00000289388.3																			0				endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16						c.(79-81)Gag>Aag		chromosome 2 open reading frame 62							50.0	51.0	51.0					2																	219221871		2203	4300	6503	SO:0001583	missense	375307							g.chr2:219221871G>A																												ENST00000289388.3:c.79G>A	2.37:g.219221871G>A	ENSP00000289388:p.Glu27Lys					AC021016.8_ENST00000411433.1_RNA	p.E27K	NM_198559.1	NP_940961.1	Q7Z7H3	CB062_HUMAN		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	108	+		Renal(207;0.0915)	27						Missense_Mutation	SNP	ENST00000289388.3	37	c.79G>A	CCDS2414.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.269080	0.40095	.	.	ENSG00000158428	ENST00000289388	.	.	.	4.33	1.45	0.22620	.	0.642666	0.15315	N	0.268853	T	0.27663	0.0680	L	0.48362	1.52	0.24510	N	0.99421	B	0.23937	0.094	B	0.20767	0.031	T	0.23297	-1.0192	9	0.12103	T	0.63	3.04	4.1048	0.10032	0.2253:0.2224:0.5523:0.0	.	27	Q7Z7H3	CB062_HUMAN	K	27	.	ENSP00000289388:E27K	E	+	1	0	C2orf62	218930115	0.017000	0.18338	0.860000	0.33809	0.955000	0.61496	-0.156000	0.10100	0.184000	0.20083	0.563000	0.77884	GAG		0.632	C2orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256771.1			22	59	0	0	0	1	0	22	59				
PPFIBP1	8496	broad.mit.edu	37	12	27800738	27800738	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:27800738G>C	ENST00000318304.8	+	6	717	c.434G>C	c.(433-435)aGa>aCa	p.R145T	PPFIBP1_ENST00000228425.6_Missense_Mutation_p.R145T|PPFIBP1_ENST00000537927.1_5'UTR|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.R145T|PPFIBP1_ENST00000535047.1_Missense_Mutation_p.R145T	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	145					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)			PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					GAAGAGCACAGAGAGAAGGTG	0.453																																						ENST00000318304.8																		PPFIBP1/ALK(3)	0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32						c.(433-435)aGa>aCa		PTPRF interacting protein, binding protein 1 (liprin beta 1)							162.0	160.0	161.0					12																	27800738		2203	4300	6503	SO:0001583	missense	8496				cell adhesion	plasma membrane	protein binding	g.chr12:27800738G>C	AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.434G>C	12.37:g.27800738G>C	ENSP00000314724:p.Arg145Thr					PPFIBP1_ENST00000537927.1_5'UTR|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.R145T|PPFIBP1_ENST00000535047.1_Missense_Mutation_p.R145T|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.R145T	p.R145T	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN			6	717	+	Lung SC(9;0.0873)		145					O75336|Q86X70|Q9NY03|Q9ULJ0	Missense_Mutation	SNP	ENST00000318304.8	37	c.434G>C	CCDS55812.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.152564	0.57259	.	.	ENSG00000110841	ENST00000543820;ENST00000545381;ENST00000318304;ENST00000535047;ENST00000542629;ENST00000228425	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	5.26	4.37	0.52481	.	0.206543	0.24041	U	0.042092	T	0.55337	0.1914	L	0.45228	1.405	0.54753	D	0.999985	D;D;D;P	0.71674	0.987;0.997;0.998;0.893	P;D;D;B	0.81914	0.87;0.995;0.979;0.236	T	0.55192	-0.8179	10	0.51188	T	0.08	-19.657	13.5324	0.61629	0.0761:0.0:0.9239:0.0	.	145;145;145;145	Q86W92;Q86W92-2;Q86W92-4;Q86W92-5	LIPB1_HUMAN;.;.;.	T	147;145;145;145;145;145	ENSP00000445822:R145T;ENSP00000314724:R145T;ENSP00000444046:R145T;ENSP00000443442:R145T;ENSP00000228425:R145T	ENSP00000228425:R145T	R	+	2	0	PPFIBP1	27692005	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.723000	0.74742	1.206000	0.43276	-0.145000	0.13849	AGA		0.453	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402877.1	NM_003622		41	103	0	0	0	1	0	41	103				
TCOF1	6949	broad.mit.edu	37	5	149771523	149771523	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:149771523G>A	ENST00000504761.2	+	21	3301	c.3301G>A	c.(3301-3303)Gac>Aac	p.D1101N	TCOF1_ENST00000439160.2_Missense_Mutation_p.D1063N|TCOF1_ENST00000323668.7_Missense_Mutation_p.D1024N|TCOF1_ENST00000451292.1_Missense_Mutation_p.D1138N|TCOF1_ENST00000445265.2_Missense_Mutation_p.D1024N|TCOF1_ENST00000377797.3_Missense_Mutation_p.D1101N|TCOF1_ENST00000513346.1_Missense_Mutation_p.D1100N			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1101					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAATTAGGTTGACAGTGCTGT	0.507																																						ENST00000451292.1																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35						c.(3412-3414)Gac>Aac		Treacher Collins-Franceschetti syndrome 1							63.0	60.0	61.0					5																	149771523		2203	4300	6503	SO:0001583	missense	6949				skeletal system development	nucleolus	protein binding|transporter activity	g.chr5:149771523G>A		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.3301G>A	5.37:g.149771523G>A	ENSP00000421655:p.Asp1101Asn					TCOF1_ENST00000504761.2_Missense_Mutation_p.D1101N|TCOF1_ENST00000377797.3_Missense_Mutation_p.D1101N|TCOF1_ENST00000323668.7_Missense_Mutation_p.D1024N|TCOF1_ENST00000439160.2_Missense_Mutation_p.D1063N|TCOF1_ENST00000445265.2_Missense_Mutation_p.D1024N|TCOF1_ENST00000513346.1_Missense_Mutation_p.D1100N	p.D1138N			Q13428	TCOF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		22	3520	+		all_hematologic(541;0.224)	1101					A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Missense_Mutation	SNP	ENST00000504761.2	37	c.3412G>A	CCDS54936.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.116901	0.56505	.	.	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000445265;ENST00000323668;ENST00000439160;ENST00000427724;ENST00000504761;ENST00000513346	T;T;T;T;T;T;T;T	0.75477	-0.93;-0.94;-0.94;-0.93;-0.84;-0.85;-0.93;-0.84	4.55	3.67	0.42095	.	0.774714	0.10998	N	0.610825	T	0.68072	0.2961	L	0.36672	1.1	0.09310	N	1	P;P;P;B;P	0.36535	0.557;0.557;0.557;0.421;0.557	B;B;B;B;B	0.41860	0.368;0.368;0.368;0.203;0.368	T	0.59445	-0.7453	10	0.52906	T	0.07	-3.0E-4	7.8613	0.29511	0.1152:0.0:0.8848:0.0	.	1063;1024;1063;1101;1024	Q13428-7;Q13428-2;Q13428-6;Q13428;Q13428-8	.;.;.;TCOF_HUMAN;.	N	1138;1101;1024;1024;1063;1063;1101;1100	ENSP00000400939:D1138N;ENSP00000367028:D1101N;ENSP00000409944:D1024N;ENSP00000325223:D1024N;ENSP00000406888:D1063N;ENSP00000390717:D1063N;ENSP00000421655:D1101N;ENSP00000427484:D1100N	ENSP00000325223:D1024N	D	+	1	0	TCOF1	149751716	0.001000	0.12720	0.003000	0.11579	0.072000	0.16883	0.816000	0.27267	1.245000	0.43885	0.655000	0.94253	GAC		0.507	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656		15	35	0	0	0	1	0	15	35				
USP1	7398	broad.mit.edu	37	1	62910855	62910855	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:62910855C>T	ENST00000339950.4	+	6	1819	c.1004C>T	c.(1003-1005)tCa>tTa	p.S335L	USP1_ENST00000371146.1_Missense_Mutation_p.S335L	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	335	USP.				DNA repair (GO:0006281)|monoubiquitinated protein deubiquitination (GO:0035520)|protein deubiquitination (GO:0016579)|regulation of DNA repair (GO:0006282)|response to UV (GO:0009411)|skeletal system development (GO:0001501)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		CAAAAGAAATCAAGAGTTAAA	0.328																																					Ovarian(122;1846 2315 3982 19504)	ENST00000339950.4																			0				breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19						c.(1003-1005)tCa>tTa		ubiquitin specific peptidase 1							46.0	50.0	48.0					1																	62910855		2200	4299	6499	SO:0001583	missense	7398				DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:62910855C>T		CCDS621.1	1p31.3	2008-05-14	2005-08-08		ENSG00000162607	ENSG00000162607		"""Ubiquitin-specific peptidases"""	12607	protein-coding gene	gene with protein product		603478	"""ubiquitin specific protease 1"""			12838346	Standard	NM_003368		Approved		uc001dak.2	O94782	OTTHUMG00000008972	ENST00000339950.4:c.1004C>T	1.37:g.62910855C>T	ENSP00000343526:p.Ser335Leu					USP1_ENST00000371146.1_Missense_Mutation_p.S335L	p.S335L	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)	6	1819	+		all_neural(321;0.0281)	335					A0PJ95|D3DQ57|Q05BX7|Q59H66|Q9UFR0|Q9UNJ3	Missense_Mutation	SNP	ENST00000339950.4	37	c.1004C>T	CCDS621.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.950107	0.73787	.	.	ENSG00000162607	ENST00000371146;ENST00000339950	T;T	0.19938	2.11;2.11	5.64	5.64	0.86602	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.336884	0.31821	N	0.007002	T	0.36608	0.0973	L	0.46157	1.445	0.42954	D	0.994389	D	0.61697	0.99	P	0.62491	0.903	T	0.01375	-1.1371	10	0.12103	T	0.63	-3.7633	19.8946	0.96949	0.0:1.0:0.0:0.0	.	335	O94782	UBP1_HUMAN	L	335	ENSP00000360188:S335L;ENSP00000343526:S335L	ENSP00000343526:S335L	S	+	2	0	USP1	62683443	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	4.585000	0.60977	2.937000	0.99478	0.650000	0.86243	TCA		0.328	USP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024881.1	NM_001017415		15	63	0	0	0	1	0	15	63				
TGFBR2	7048	broad.mit.edu	37	3	30715709	30715709	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:30715709A>G	ENST00000295754.5	+	5	1749	c.1367A>G	c.(1366-1368)gAa>gGa	p.E456G	TGFBR2_ENST00000359013.4_Missense_Mutation_p.E481G	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	456	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GTGCTCTGGGAAATGACATCT	0.463																																						ENST00000295754.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						c.(1366-1368)gAa>gGa		transforming growth factor, beta receptor II (70/80kDa)							153.0	130.0	138.0					3																	30715709		2203	4300	6503	SO:0001583	missense	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30715709A>G		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1367A>G	3.37:g.30715709A>G	ENSP00000295754:p.Glu456Gly					TGFBR2_ENST00000359013.4_Missense_Mutation_p.E481G	p.E456G	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN			5	1749	+			456			Protein kinase.		B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	ENST00000295754.5	37	c.1367A>G	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	A	29.6	5.019944	0.93462	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	D;D	0.96073	-3.9;-3.9	5.75	5.75	0.90469	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98635	0.9543	H	0.97340	3.985	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99761	1.1021	10	0.87932	D	0	.	16.0755	0.80965	1.0:0.0:0.0:0.0	.	456;481	P37173;D2JYI1	TGFR2_HUMAN;.	G	456;481;286	ENSP00000295754:E456G;ENSP00000351905:E481G	ENSP00000295754:E456G	E	+	2	0	TGFBR2	30690713	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.339000	0.96797	2.182000	0.69389	0.528000	0.53228	GAA		0.463	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			31	75	0	0	0	1	0	31	75				
UTP14A	10813	broad.mit.edu	37	X	129059037	129059037	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:129059037G>A	ENST00000394422.3	+	12	1643	c.1615G>A	c.(1615-1617)Gag>Aag	p.E539K	UTP14A_ENST00000371051.5_Missense_Mutation_p.E485K|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Missense_Mutation_p.E487K|UTP14A_ENST00000371042.3_Missense_Mutation_p.E371K	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	539					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						GCAGCAGTCAGAGAGGACCCC	0.478																																						ENST00000394422.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						c.(1615-1617)Gag>Aag		UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)							105.0	104.0	104.0					X																	129059037		2203	4300	6503	SO:0001583	missense	10813				rRNA processing	nucleolus|small-subunit processome	protein binding	g.chrX:129059037G>A	AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"""serologically defined colon cancer antigen 16"""	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.1615G>A	X.37:g.129059037G>A	ENSP00000377944:p.Glu539Lys					UTP14A_ENST00000425117.2_Missense_Mutation_p.E487K|UTP14A_ENST00000371051.5_Missense_Mutation_p.E485K|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371042.3_Missense_Mutation_p.E371K	p.E539K	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN			12	1643	+			539					A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Missense_Mutation	SNP	ENST00000394422.3	37	c.1615G>A	CCDS14615.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.682351	0.29872	.	.	ENSG00000156697	ENST00000425117;ENST00000394422;ENST00000371051;ENST00000371042	T;T;T;T	0.16196	2.36;2.36;2.36;2.36	5.78	1.77	0.24775	.	0.905008	0.09859	N	0.746503	T	0.13157	0.0319	L	0.53561	1.675	0.09310	N	1	B;B;B	0.19073	0.027;0.033;0.016	B;B;B	0.22152	0.013;0.038;0.024	T	0.44742	-0.9308	10	0.06099	T	0.92	-3.4388	4.2945	0.10895	0.3773:0.1608:0.4619:0.0	.	485;487;539	F8WD00;E9PEL7;Q9BVJ6	.;.;UT14A_HUMAN	K	487;539;485;371	ENSP00000388669:E487K;ENSP00000377944:E539K;ENSP00000360090:E485K;ENSP00000360081:E371K	ENSP00000360081:E371K	E	+	1	0	UTP14A	128886718	0.024000	0.19004	0.000000	0.03702	0.005000	0.04900	1.340000	0.33896	0.273000	0.22049	-0.208000	0.12717	GAG		0.478	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058221.1	NM_006649		48	158	0	0	0	1	0	48	158				
RTF1	23168	broad.mit.edu	37	15	41762529	41762529	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr15:41762529G>A	ENST00000389629.4	+	7	976	c.964G>A	c.(964-966)Gac>Aac	p.D322N		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	322	Glu-rich.				DNA-templated transcription, initiation (GO:0006352)|endodermal cell fate commitment (GO:0001711)|histone H3-K4 trimethylation (GO:0080182)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		GGAAGAGGATGACAAATCCAG	0.433																																						ENST00000389629.4																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18						c.(964-966)Gac>Aac		Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)							279.0	272.0	275.0					15																	41762529		2203	4300	6503	SO:0001583	missense	23168				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding	g.chr15:41762529G>A	D87440	CCDS32200.2	15q14	2004-03-03	2005-07-20	2005-07-20	ENSG00000137815	ENSG00000137815			28996	protein-coding gene	gene with protein product		611633	"""KIAA0252"""	KIAA0252		15632063	Standard	NM_015138		Approved		uc001zny.3	Q92541	OTTHUMG00000133744	ENST00000389629.4:c.964G>A	15.37:g.41762529G>A	ENSP00000374280:p.Asp322Asn						p.D322N	NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)	7	976	+		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)	322			Glu-rich.		Q96BX6	Missense_Mutation	SNP	ENST00000389629.4	37	c.964G>A	CCDS32200.2	.	.	.	.	.	.	.	.	.	.	G	34	5.385503	0.95967	.	.	ENSG00000137815	ENST00000389629	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.64450	0.2599	N	0.24115	0.695	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	T	0.63337	-0.6660	9	0.34782	T	0.22	-21.6386	19.1202	0.93360	0.0:0.0:1.0:0.0	.	322	Q92541	RTF1_HUMAN	N	322	.	ENSP00000374280:D322N	D	+	1	0	RTF1	39549821	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.471000	0.97696	2.504000	0.84457	0.655000	0.94253	GAC		0.433	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258111.1	NM_015138		108	283	0	0	0	1	0	108	283				
CLMN	79789	broad.mit.edu	37	14	95670176	95670176	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr14:95670176G>A	ENST00000298912.4	-	9	1623	c.1510C>T	c.(1510-1512)Cag>Tag	p.Q504*		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	504					negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		GAAGAAGACTGAGAATTATTG	0.463																																						ENST00000298912.4																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44						c.(1510-1512)Cag>Tag		calmin (calponin-like, transmembrane)							72.0	75.0	74.0					14																	95670176		2203	4300	6503	SO:0001587	stop_gained	79789					integral to membrane	actin binding	g.chr14:95670176G>A	AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.1510C>T	14.37:g.95670176G>A	ENSP00000298912:p.Gln504*						p.Q504*	NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN		Epithelial(152;0.193)	9	1623	-			504					B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Nonsense_Mutation	SNP	ENST00000298912.4	37	c.1510C>T	CCDS9933.1	.	.	.	.	.	.	.	.	.	.	G	36	5.617554	0.96649	.	.	ENSG00000165959	ENST00000298912	.	.	.	5.48	-0.18	0.13295	.	0.838313	0.10021	N	0.726011	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	5.3333	0.15944	0.2649:0.2796:0.4555:0.0	.	.	.	.	X	504	.	ENSP00000298912:Q504X	Q	-	1	0	CLMN	94739929	0.000000	0.05858	0.000000	0.03702	0.069000	0.16628	0.495000	0.22483	0.030000	0.15379	0.655000	0.94253	CAG		0.463	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414518.2			15	38	0	0	0	1	0	15	38				
CDC37	11140	broad.mit.edu	37	19	10506687	10506687	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:10506687C>G	ENST00000222005.2	-	2	348	c.295G>C	c.(295-297)Gag>Cag	p.E99Q		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	99					protein targeting (GO:0006605)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		AGCTTCTGCTCCCAGCTCCGC	0.657																																						ENST00000222005.2																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16						c.(295-297)Gag>Cag		cell division cycle 37							139.0	129.0	133.0					19																	10506687		2203	4300	6503	SO:0001583	missense	11140				protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding	g.chr19:10506687C>G	U63131	CCDS12237.1	19p13.2	2013-01-17	2013-01-17		ENSG00000105401	ENSG00000105401			1735	protein-coding gene	gene with protein product	"""CDC37 cell division cycle 37 homolog"", ""Hsp90 co-chaperone Cdc37"", ""CDC37 (cell division cycle 37, S. cerevisiae, homolog)"""	605065	"""CDC37 (cell division cycle 37, S. cerevisiae, homolog)"", ""CDC37 cell division cycle 37 homolog (S. cerevisiae)"", ""cell division cycle 37 homolog (S. cerevisiae)"""			8703009, 8666233	Standard	NM_007065		Approved	P50CDC37	uc002mof.1	Q16543		ENST00000222005.2:c.295G>C	19.37:g.10506687C>G	ENSP00000222005:p.Glu99Gln						p.E99Q	NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)	2	348	-			99					Q53YA2	Missense_Mutation	SNP	ENST00000222005.2	37	c.295G>C	CCDS12237.1	.	.	.	.	.	.	.	.	.	.	C	10.90	1.480220	0.26598	.	.	ENSG00000105401	ENST00000222005	T	0.44881	0.91	4.05	4.05	0.47172	Cdc37, N-terminal (1);	0.120515	0.53938	D	0.000046	T	0.29588	0.0738	N	0.21448	0.665	0.37417	D	0.913497	B;B	0.15930	0.015;0.015	B;B	0.18263	0.021;0.021	T	0.17745	-1.0359	10	0.27082	T	0.32	.	14.0814	0.64925	0.0:1.0:0.0:0.0	.	99;99	Q6FG59;Q16543	.;CDC37_HUMAN	Q	99	ENSP00000222005:E99Q	ENSP00000222005:E99Q	E	-	1	0	CDC37	10367687	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.294000	0.51787	1.969000	0.57287	0.555000	0.69702	GAG		0.657	CDC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451987.1	NM_007065		44	171	0	0	0	1	0	44	171				
BTAF1	9044	broad.mit.edu	37	10	93716353	93716353	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr10:93716353C>G	ENST00000265990.6	+	7	1078	c.770C>G	c.(769-771)tCt>tGt	p.S257C		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	257					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				ATTAATCAGTCTGCAAATGAT	0.333																																						ENST00000265990.6																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59						c.(769-771)tCt>tGt		BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa							84.0	79.0	81.0					10																	93716353		2203	4300	6503	SO:0001583	missense	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93716353C>G	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.770C>G	10.37:g.93716353C>G	ENSP00000265990:p.Ser257Cys						p.S257C	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN			7	1078	+		Colorectal(252;0.0846)	257					B4E0W6|O43578	Missense_Mutation	SNP	ENST00000265990.6	37	c.770C>G	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.746921	0.69418	.	.	ENSG00000095564	ENST00000265990	D	0.90563	-2.69	5.76	5.76	0.90799	Armadillo-type fold (1);	0.219310	0.48286	D	0.000193	D	0.89522	0.6739	L	0.43923	1.385	0.80722	D	1	P	0.35208	0.49	B	0.38194	0.267	D	0.88771	0.3264	10	0.66056	D	0.02	-26.3176	20.3242	0.98691	0.0:1.0:0.0:0.0	.	257	O14981	BTAF1_HUMAN	C	257	ENSP00000265990:S257C	ENSP00000265990:S257C	S	+	2	0	BTAF1	93706333	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	7.416000	0.80143	2.882000	0.98803	0.655000	0.94253	TCT		0.333	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972		14	25	0	0	0	1	0	14	25				
FANCI	55215	broad.mit.edu	37	15	89843066	89843066	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr15:89843066C>T	ENST00000310775.7	+	25	2758	c.2672C>T	c.(2671-2673)tCa>tTa	p.S891L	FANCI_ENST00000300027.8_Missense_Mutation_p.S831L	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	891					cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					ATTCCTACTTCAGTGGAAGAG	0.403								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000310775.7																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(2671-2673)tCa>tTa	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group I							93.0	87.0	89.0					15																	89843066		2200	4299	6499	SO:0001583	missense	55215	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle|DNA repair	nucleoplasm	protein binding	g.chr15:89843066C>T	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"""Fanconi anemia, complementation groups"""	25568	protein-coding gene	gene with protein product		611360	"""KIAA1794"""	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.2672C>T	15.37:g.89843066C>T	ENSP00000310842:p.Ser891Leu					FANCI_ENST00000300027.8_Missense_Mutation_p.S831L	p.S891L	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN			25	2758	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		891					A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Missense_Mutation	SNP	ENST00000310775.7	37	c.2672C>T	CCDS45346.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.670824	0.29693	.	.	ENSG00000140525	ENST00000300027;ENST00000310775;ENST00000447611	T;T;T	0.69561	-0.38;-0.41;0.35	5.39	4.48	0.54585	.	0.639345	0.15969	N	0.235891	T	0.58850	0.2151	L	0.50333	1.59	0.35557	D	0.804344	B;B;B	0.29988	0.035;0.264;0.264	B;B;B	0.23419	0.012;0.046;0.046	T	0.64232	-0.6456	10	0.35671	T	0.21	-2.1096	12.1671	0.54135	0.0:0.8575:0.0:0.1425	.	891;831;831	Q9NVI1;Q9NVI1-2;Q9NVI1-1	FANCI_HUMAN;.;.	L	831;891;831	ENSP00000300027:S831L;ENSP00000310842:S891L;ENSP00000413249:S831L	ENSP00000300027:S831L	S	+	2	0	FANCI	87644070	0.208000	0.23494	0.139000	0.22197	0.998000	0.95712	2.390000	0.44416	1.407000	0.46875	0.655000	0.94253	TCA		0.403	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421140.1	NM_018193		24	60	0	0	0	1	0	24	60				
CD274	29126	broad.mit.edu	37	9	5457237	5457237	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr9:5457237G>A	ENST00000381577.3	+	3	297	c.211G>A	c.(211-213)Gag>Aag	p.E71K	CD274_ENST00000498261.1_3'UTR|CD274_ENST00000381573.4_Intron	NM_014143.3	NP_054862.1	Q9NZQ7	PD1L1_HUMAN	CD274 molecule	71	Ig-like V-type.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of T cell proliferation (GO:0042102)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000742)|Lung(218;0.111)		TGTGCATGGAGAGGAAGACCT	0.443			T	CIITA	"""PMBL, Hodgkin Lymphona, """																																	ENST00000381577.3				Dom	yes		9	9p24	29126	T	CD274 molecule			L	CIITA		"""PMBL, Hodgkin Lymphona, """		0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11						c.(211-213)Gag>Aag		CD274 molecule							88.0	90.0	89.0					9																	5457237		2203	4300	6503	SO:0001583	missense	29126				cell proliferation|cell surface receptor linked signaling pathway|immune response|T cell costimulation	endomembrane system|integral to membrane	receptor activity	g.chr9:5457237G>A	AF177937	CCDS6464.1, CCDS59118.1	9p24.1	2014-01-30	2006-03-28	2005-02-25	ENSG00000120217	ENSG00000120217		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Endogenous ligands"""	17635	protein-coding gene	gene with protein product	"""B7 homolog 1"""	605402	"""programmed cell death 1 ligand 1"", ""CD274 antigen"""	PDCD1LG1		11015443, 10581077	Standard	NM_014143		Approved	B7-H, B7H1, PD-L1, PDL1, B7-H1	uc003zje.3	Q9NZQ7	OTTHUMG00000019503	ENST00000381577.3:c.211G>A	9.37:g.5457237G>A	ENSP00000370989:p.Glu71Lys					CD274_ENST00000498261.1_3'UTR|CD274_ENST00000381573.4_Intron	p.E71K	NM_014143.3	NP_054862.1	Q9NZQ7	PD1L1_HUMAN		GBM - Glioblastoma multiforme(50;0.000742)|Lung(218;0.111)	3	297	+	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)	71			Ig-like V-type.		B2RBA2|B4DU27|Q14CJ2|Q2V8D5|Q66RK1|Q6WEX4|Q9NUZ5	Missense_Mutation	SNP	ENST00000381577.3	37	c.211G>A	CCDS6464.1	.	.	.	.	.	.	.	.	.	.	G	6.996	0.553888	0.13374	.	.	ENSG00000120217	ENST00000381577	T	0.64991	-0.13	5.93	-7.17	0.01511	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.603596	0.17567	N	0.169609	T	0.26448	0.0646	N	0.02751	-0.505	0.20638	N	0.999879	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.32134	-0.9918	10	0.02654	T	1	-11.1403	14.1837	0.65590	0.7429:0.0832:0.1739:0.0	.	71;71	Q9NZQ7-3;Q9NZQ7	.;PD1L1_HUMAN	K	71	ENSP00000370989:E71K	ENSP00000370989:E71K	E	+	1	0	CD274	5447237	0.000000	0.05858	0.016000	0.15963	0.865000	0.49528	-1.075000	0.03423	-1.686000	0.01439	0.655000	0.94253	GAG		0.443	CD274-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051631.2	NM_014143		21	44	0	0	0	1	0	21	44				
PKD1L1	168507	broad.mit.edu	37	7	47869116	47869116	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr7:47869116C>A	ENST00000289672.2	-	44	6692	c.6642G>T	c.(6640-6642)agG>agT	p.R2214S		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2214					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AGTCCAGATCCCTGGTAGCCT	0.468																																						ENST00000289672.2																		BBS9/PKD1L1(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						c.(6640-6642)agG>agT		polycystic kidney disease 1 like 1							162.0	166.0	164.0					7																	47869116		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47869116C>A	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.6642G>T	7.37:g.47869116C>A	ENSP00000289672:p.Arg2214Ser						p.R2214S	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN			44	6692	-			2214					Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.6642G>T	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	C	1.616	-0.522791	0.04141	.	.	ENSG00000158683	ENST00000289672	T	0.19394	2.15	4.21	4.21	0.49690	.	0.580480	0.16280	N	0.221420	T	0.14356	0.0347	N	0.22421	0.69	0.09310	N	1	B	0.17465	0.022	B	0.08055	0.003	T	0.11767	-1.0574	10	0.30078	T	0.28	-4.6621	11.9046	0.52703	0.0:1.0:0.0:0.0	.	2214	Q8TDX9	PK1L1_HUMAN	S	2214	ENSP00000289672:R2214S	ENSP00000289672:R2214S	R	-	3	2	PKD1L1	47835641	0.000000	0.05858	0.039000	0.18376	0.108000	0.19459	0.651000	0.24873	2.184000	0.69523	0.563000	0.77884	AGG		0.468	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		69	153	1	0	3.37205e-40	1	3.72255e-40	69	153				
BTNL3	10917	broad.mit.edu	37	5	180432442	180432442	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:180432442G>C	ENST00000342868.6	+	8	1155	c.971G>C	c.(970-972)aGa>aCa	p.R324T	RNU6-1036P_ENST00000383959.1_RNA	NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	324	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			TCTGAGAAGAGATTTACAAGG	0.512																																						ENST00000342868.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25						c.(970-972)aGa>aCa		butyrophilin-like 3							89.0	99.0	96.0					5																	180432442		2201	4299	6500	SO:0001583	missense	10917				lipid metabolic process	integral to membrane		g.chr5:180432442G>C	AB020625	CCDS47358.1	5q35	2014-01-14			ENSG00000168903	ENSG00000168903		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1143	protein-coding gene	gene with protein product	"""butyrophilin-like receptor"""	606192				10429365	Standard	NM_197975		Approved	BTNLR, BTN9.1	uc003mmr.3	Q6UXE8	OTTHUMG00000162091	ENST00000342868.6:c.971G>C	5.37:g.180432442G>C	ENSP00000341787:p.Arg324Thr						p.R324T	NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)		8	1155	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	324			B30.2/SPRY.		Q496L7|Q9Y2C7	Missense_Mutation	SNP	ENST00000342868.6	37	c.971G>C	CCDS47358.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.099764	0.37048	.	.	ENSG00000168903	ENST00000342868;ENST00000376852	T	0.59638	0.25	2.44	1.48	0.22813	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.70789	0.3264	M	0.80746	2.51	0.09310	N	0.999997	D;D	0.69078	0.997;0.991	P;D	0.76071	0.908;0.987	T	0.56956	-0.7893	9	0.54805	T	0.06	.	3.7742	0.08653	0.1608:0.2604:0.5788:0.0	.	290;324	C9JDC2;Q6UXE8	.;BTNL3_HUMAN	T	324;290	ENSP00000341787:R324T	ENSP00000341787:R324T	R	+	2	0	BTNL3	180365048	1.000000	0.71417	0.014000	0.15608	0.027000	0.11550	4.495000	0.60353	0.119000	0.18210	0.195000	0.17529	AGA		0.512	BTNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367176.2	NM_197975		33	88	0	0	0	1	0	33	88				
FRG1B	284802	broad.mit.edu	37	20	29625892	29625892	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr20:29625892T>C	ENST00000278882.3	+	5	516	c.136T>C	c.(136-138)Tat>Cat	p.Y46H	FRG1B_ENST00000439954.2_Missense_Mutation_p.Y51H|FRG1B_ENST00000358464.4_Missense_Mutation_p.Y46H			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	46										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAATCTGGCTATGGAAAATA	0.348																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(136-138)Tat>Cat																																						SO:0001583	missense	284802							g.chr20:29625892T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.136T>C	20.37:g.29625892T>C	ENSP00000278882:p.Tyr46His					FRG1B_ENST00000358464.4_Missense_Mutation_p.Y46H|FRG1B_ENST00000439954.2_Missense_Mutation_p.Y51H	p.Y46H							5	516	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.136T>C		.	.	.	.	.	.	.	.	.	.	t	11.71	1.718965	0.30503	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50548	0.74	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.53094	0.1775	.	.	.	0.48341	D	0.999631	P	0.36837	0.571	P	0.54499	0.754	T	0.46176	-0.9210	9	0.28530	T	0.3	.	7.3757	0.26827	0.0:0.0:0.0:1.0	.	51	F5H5R5	.	H	46;51;46	ENSP00000408863:Y51H	ENSP00000278882:Y46H	Y	+	1	0	FRG1B	28239553	1.000000	0.71417	1.000000	0.80357	0.054000	0.15201	6.623000	0.74238	1.028000	0.39785	0.155000	0.16302	TAT		0.348	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	132	0	0	0	1	0	4	132				
GNAT2	2780	broad.mit.edu	37	1	110152749	110152749	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:110152749G>A	ENST00000351050.3	-	3	402	c.216C>T	c.(214-216)atC>atT	p.I72I		NM_005272.3	NP_005263.1	P19087	GNAT2_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2	72					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of light stimulus involved in visual perception (GO:0050908)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to light intensity (GO:0009642)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	heterotrimeric G-protein complex (GO:0005834)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	14		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227)		TTCCATAGATGATAGCCTTGA	0.502																																						ENST00000351050.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(214-216)atC>atT		guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2							238.0	205.0	216.0					1																	110152749		2203	4300	6503	SO:0001819	synonymous_variant	2780				detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	G-protein beta/gamma-subunit complex binding|G-protein coupled photoreceptor activity|G-protein-coupled receptor binding|GTP binding|GTPase activity	g.chr1:110152749G>A	BC000233	CCDS803.1	1p13	2013-01-08			ENSG00000134183	ENSG00000134183			4394	protein-coding gene	gene with protein product		139340				8406495	Standard	NM_005272		Approved	ACHM4	uc001dya.3	P19087	OTTHUMG00000011639	ENST00000351050.3:c.216C>T	1.37:g.110152749G>A							p.I72I	NM_005272.3	NP_005263.1	P19087	GNAT2_HUMAN		Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227)	3	402	-		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	72						Silent	SNP	ENST00000351050.3	37	c.216C>T	CCDS803.1																																																																																				0.502	GNAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032181.1	NM_005272		41	124	0	0	0	1	0	41	124				
TDRD6	221400	broad.mit.edu	37	6	46660792	46660792	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:46660792G>C	ENST00000316081.6	+	1	4927	c.4927G>C	c.(4927-4929)Gaa>Caa	p.E1643Q	TDRD6_ENST00000544460.1_Missense_Mutation_p.E1643Q	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1643					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TAACATTTCAGAAGGATTATG	0.403																																						ENST00000544460.1																			0				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(4927-4929)Gaa>Caa		tudor domain containing 6							83.0	85.0	84.0					6																	46660792		2203	4300	6503	SO:0001583	missense	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46660792G>C	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.4927G>C	6.37:g.46660792G>C	ENSP00000346065:p.Glu1643Gln					TDRD6_ENST00000316081.6_Missense_Mutation_p.E1643Q	p.E1643Q	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	5181	+			1643					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	c.4927G>C	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	G	7.286	0.610182	0.14066	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.17370	2.28;2.3	5.69	4.81	0.61882	.	0.238649	0.35708	N	0.003022	T	0.04003	0.0112	N	0.20986	0.625	0.21445	N	0.999689	B;B	0.23442	0.069;0.085	B;B	0.24701	0.055;0.035	T	0.35895	-0.9770	10	0.21014	T	0.42	-5.3472	10.9793	0.47483	0.0696:0.131:0.7993:0.0	.	1643;1643	F5H5M3;O60522	.;TDRD6_HUMAN	Q	1643	ENSP00000443299:E1643Q;ENSP00000346065:E1643Q	ENSP00000346065:E1643Q	E	+	1	0	TDRD6	46768751	0.950000	0.32346	0.514000	0.27761	0.063000	0.16089	1.586000	0.36611	1.384000	0.46424	0.655000	0.94253	GAA		0.403	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		21	84	0	0	0	1	0	21	84				
TUBGCP3	10426	broad.mit.edu	37	13	113140342	113140342	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr13:113140342G>C	ENST00000261965.3	-	22	2875	c.2689C>G	c.(2689-2691)Ctg>Gtg	p.L897V		NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	897					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|single fertilization (GO:0007338)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|polar microtubule (GO:0005827)|spindle (GO:0005819)	gamma-tubulin binding (GO:0043015)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					CTGGTACCCAGAGACACACGG	0.587																																						ENST00000261965.3																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25						c.(2689-2691)Ctg>Gtg		tubulin, gamma complex associated protein 3							31.0	26.0	28.0					13																	113140342		2201	4291	6492	SO:0001583	missense	10426				G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton	g.chr13:113140342G>C	AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216			18598	protein-coding gene	gene with protein product	"""spindle pole body protein"""					9566967, 9566969	Standard	XM_005268293		Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.2689C>G	13.37:g.113140342G>C	ENSP00000261965:p.Leu897Val						p.L897V	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN			22	2875	-	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)		897					O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Missense_Mutation	SNP	ENST00000261965.3	37	c.2689C>G	CCDS9525.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.215583	0.39102	.	.	ENSG00000126216	ENST00000261965	T	0.24908	1.83	4.64	3.77	0.43336	.	0.071010	0.56097	D	0.000024	T	0.37404	0.1002	M	0.79926	2.475	0.80722	D	1	P;P	0.38020	0.615;0.615	B;P	0.45971	0.368;0.499	T	0.13124	-1.0521	10	0.25106	T	0.35	-17.575	11.1709	0.48571	0.1773:0.0:0.8227:0.0	.	887;897	B4DYP7;Q96CW5	.;GCP3_HUMAN	V	897	ENSP00000261965:L897V	ENSP00000261965:L897V	L	-	1	2	TUBGCP3	112188343	0.999000	0.42202	0.869000	0.34112	0.577000	0.36160	2.831000	0.48144	2.262000	0.75019	0.655000	0.94253	CTG		0.587	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045825.2	NM_006322		12	12	0	0	0	1	0	12	12				
KCNQ5	56479	broad.mit.edu	37	6	73787168	73787168	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:73787168G>A	ENST00000370398.1	+	4	849	c.740G>A	c.(739-741)cGa>cAa	p.R247Q	KCNQ5_ENST00000355194.4_Missense_Mutation_p.R247Q|KCNQ5_ENST00000414165.2_Missense_Mutation_p.R247Q|KCNQ5_ENST00000370392.1_Missense_Mutation_p.R247Q|KCNQ5_ENST00000342056.2_Missense_Mutation_p.R247Q|KCNQ5_ENST00000403813.2_Missense_Mutation_p.R247Q|KCNQ5_ENST00000355635.3_Missense_Mutation_p.R247Q|KCNQ5_ENST00000402622.2_Missense_Mutation_p.R247Q	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	247					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	CGCATGGACCGAAGGGGAGGC	0.428																																					GBM(142;1375 1859 14391 23261 44706)	ENST00000342056.2																			0				breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(739-741)cGa>cAa		potassium voltage-gated channel, KQT-like subfamily, member 5							72.0	70.0	71.0					6																	73787168		2203	4300	6503	SO:0001583	missense	56479				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr6:73787168G>A	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.740G>A	6.37:g.73787168G>A	ENSP00000359425:p.Arg247Gln					KCNQ5_ENST00000370398.1_Missense_Mutation_p.R247Q|KCNQ5_ENST00000355635.3_Missense_Mutation_p.R247Q|KCNQ5_ENST00000402622.2_Missense_Mutation_p.R247Q|KCNQ5_ENST00000414165.2_Missense_Mutation_p.R247Q|KCNQ5_ENST00000355194.4_Missense_Mutation_p.R247Q|KCNQ5_ENST00000403813.2_Missense_Mutation_p.R247Q|KCNQ5_ENST00000370392.1_Missense_Mutation_p.R247Q	p.R247Q	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	4	1138	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	247					A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	37	c.740G>A	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	G	36	5.794569	0.96952	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000370392;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D;D	0.98792	-5.14;-5.14;-5.14;-5.14;-5.14;-5.14;-5.14;-5.14	5.84	5.84	0.93424	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99369	0.9778	M	0.89968	3.075	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D	0.91635	0.998;0.999;0.994;0.998;0.998;0.991	D	0.99243	1.0885	10	0.87932	D	0	.	20.1438	0.98071	0.0:0.0:1.0:0.0	.	247;247;247;247;247;247	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82;Q9NR82-4	.;.;.;.;KCNQ5_HUMAN;.	Q	247	ENSP00000345055:R247Q;ENSP00000347326:R247Q;ENSP00000359425:R247Q;ENSP00000359419:R247Q;ENSP00000385501:R247Q;ENSP00000347853:R247Q;ENSP00000384453:R247Q;ENSP00000409861:R247Q	ENSP00000345055:R247Q	R	+	2	0	KCNQ5	73843889	1.000000	0.71417	0.986000	0.45419	0.989000	0.77384	9.869000	0.99810	2.768000	0.95171	0.650000	0.86243	CGA		0.428	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842		11	44	0	0	0	1	0	11	44				
ICE1	23379	broad.mit.edu	37	5	5461756	5461756	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:5461756C>G	ENST00000296564.7	+	13	2531	c.2309C>G	c.(2308-2310)tCa>tGa	p.S770*		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		770					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GATTTCACATCATTAATAGGT	0.388																																						ENST00000296564.7																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(2308-2310)tCa>tGa		KIAA0947							83.0	72.0	75.0					5																	5461756		1901	4131	6032	SO:0001587	stop_gained	23379							g.chr5:5461756C>G																												ENST00000296564.7:c.2309C>G	5.37:g.5461756C>G	ENSP00000296564:p.Ser770*						p.S770*	NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN			13	2531	+			770					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Nonsense_Mutation	SNP	ENST00000296564.7	37	c.2309C>G	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	C	39	7.859654	0.98528	.	.	ENSG00000164151	ENST00000296564	.	.	.	5.4	4.33	0.51752	.	2.033740	0.01901	N	0.039218	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-0.0885	9.9042	0.41366	0.0:0.8918:0.0:0.1082	.	.	.	.	X	770	.	ENSP00000296564:S770X	S	+	2	0	KIAA0947	5514756	0.000000	0.05858	0.005000	0.12908	0.222000	0.24845	0.879000	0.28146	2.528000	0.85240	0.460000	0.39030	TCA		0.388	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			9	15	0	0	0	1	0	9	15				
CARD6	84674	broad.mit.edu	37	5	40853799	40853799	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:40853799C>T	ENST00000254691.5	+	3	2564	c.2365C>T	c.(2365-2367)Cat>Tat	p.H789Y	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	789					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TCAATCCTTCCATCCCCAGAT	0.478																																						ENST00000254691.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						c.(2365-2367)Cat>Tat		caspase recruitment domain family, member 6							131.0	148.0	143.0					5																	40853799		2203	4300	6503	SO:0001583	missense	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40853799C>T	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.2365C>T	5.37:g.40853799C>T	ENSP00000254691:p.His789Tyr					CARD6_ENST00000381677.3_Intron	p.H789Y	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN			3	2564	+			789					Q52LR2	Missense_Mutation	SNP	ENST00000254691.5	37	c.2365C>T	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	C	9.465	1.094117	0.20471	.	.	ENSG00000132357	ENST00000254691	T	0.11712	2.75	5.06	3.14	0.36123	.	0.242202	0.29565	N	0.011799	T	0.07098	0.0180	N	0.19112	0.55	0.47994	D	0.99956	B	0.27656	0.184	B	0.25614	0.062	T	0.23297	-1.0192	10	0.72032	D	0.01	-4.4413	8.6677	0.34132	0.1582:0.5344:0.3075:0.0	.	789	Q9BX69	CARD6_HUMAN	Y	789	ENSP00000254691:H789Y	ENSP00000254691:H789Y	H	+	1	0	CARD6	40889556	0.024000	0.19004	0.889000	0.34880	0.184000	0.23303	0.622000	0.24433	1.309000	0.44985	0.561000	0.74099	CAT		0.478	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			92	244	0	0	0	1	0	92	244				
JADE2	23338	broad.mit.edu	37	5	133900186	133900186	+	Silent	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:133900186C>T	ENST00000402835.1	+	8	1110	c.855C>T	c.(853-855)gtC>gtT	p.V285V	PHF15_ENST00000361895.2_Silent_p.V285V|PHF15_ENST00000395003.1_Silent_p.V285V|PHF15_ENST00000282605.4_Silent_p.V285V																NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGCCCAGGTCAGCATCGGCT	0.597																																						ENST00000395003.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22						c.(853-855)gtC>gtT									40.0	34.0	36.0					5																	133900186		2203	4298	6501	SO:0001819	synonymous_variant	23338				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chr5:133900186C>T																												ENST00000402835.1:c.855C>T	5.37:g.133900186C>T						PHF15_ENST00000361895.2_Silent_p.V285V|PHF15_ENST00000282605.4_Silent_p.V285V|PHF15_ENST00000402835.1_Silent_p.V285V	p.V285V	NM_015288.4	NP_056103.4	Q9NQC1	JADE2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		8	1034	+			285						Silent	SNP	ENST00000402835.1	37	c.855C>T																																																																																					0.597	PHF15-007	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000318543.1			5	6	0	0	0	1	0	5	6				
PVRL2	5819	broad.mit.edu	37	19	45391565	45391565	+	Silent	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:45391565C>T	ENST00000252483.5	+	9	1546	c.1546C>T	c.(1546-1548)Ctg>Ttg	p.L516L	TOMM40_ENST00000252487.5_5'Flank|TOMM40_ENST00000426677.2_5'Flank|TOMM40_ENST00000405636.2_5'Flank|TOMM40_ENST00000592434.1_5'Flank|CTB-129P6.4_ENST00000585408.1_RNA	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	516					acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		CTATGATGCTCTGTCCTATAG	0.557																																						ENST00000252483.5																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13						c.(1546-1548)Ctg>Ttg		poliovirus receptor-related 2 (herpesvirus entry mediator B)							97.0	93.0	95.0					19																	45391565		1978	4146	6124	SO:0001819	synonymous_variant	5819				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr19:45391565C>T	X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.1546C>T	19.37:g.45391565C>T						CTB-129P6.4_ENST00000585408.1_RNA	p.L516L	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0143)	9	1546	+	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)	516					A8K5L5|O75455|Q6IBI6|Q96J29	Silent	SNP	ENST00000252483.5	37	c.1546C>T	CCDS42576.1																																																																																				0.557	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453231.1	NM_002856		16	57	0	0	0	1	0	16	57				
CLTC	1213	broad.mit.edu	37	17	57751071	57751071	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:57751071G>C	ENST00000269122.3	+	15	2630	c.2356G>C	c.(2356-2358)Gat>Cat	p.D786H	CLTC_ENST00000393043.1_Missense_Mutation_p.D786H|CLTC_ENST00000579815.1_3'UTR|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	786	Heavy chain arm.|Proximal segment.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CTTTGTCCATGATTTGGTGCT	0.294			T	"""ALK, TFE3"""	"""ALCL, renal """																																	ENST00000269122.3				Dom	yes		17	17q11-qter	1213	T	"""clathrin, heavy polypeptide (Hc)"""			L	"""ALK, TFE3"""		"""ALCL, renal """	CLTC/ALK(44)|CLTC/TFE3(2)	0				breast(2)|large_intestine(6)|ovary(1)	9						c.(2356-2358)Gat>Cat		clathrin, heavy chain (Hc)							59.0	58.0	58.0					17																	57751071		2203	4300	6503	SO:0001583	missense	1213				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	g.chr17:57751071G>C	X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.2356G>C	17.37:g.57751071G>C	ENSP00000269122:p.Asp786His					CLTC_ENST00000393043.1_Missense_Mutation_p.D786H|CLTC_ENST00000579456.1_Intron|CLTC_ENST00000579815.1_3'UTR	p.D786H	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN			15	2630	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		786			Heavy chain arm.|Proximal segment.		D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	37	c.2356G>C	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.958778	0.92726	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.21031	2.03;2.03	5.67	5.67	0.87782	Tetratricopeptide-like helical (1);	0.045522	0.85682	D	0.000000	T	0.56321	0.1977	M	0.88450	2.955	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.81914	0.976;0.995	T	0.62613	-0.6817	10	0.87932	D	0	.	20.1358	0.98028	0.0:0.0:1.0:0.0	.	786;786	Q00610;Q00610-2	CLH1_HUMAN;.	H	786	ENSP00000269122:D786H;ENSP00000376763:D786H	ENSP00000269122:D786H	D	+	1	0	CLTC	55105853	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.721000	0.98766	2.833000	0.97629	0.585000	0.79938	GAT		0.294	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		15	32	0	0	0	1	0	15	32				
ROCK1	6093	broad.mit.edu	37	18	18608843	18608843	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr18:18608843C>T	ENST00000399799.2	-	10	2045	c.1105G>A	c.(1105-1107)Gat>Aat	p.D369N		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	369	AGC-kinase C-terminal.|Interaction with FHOD1.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TCCAAGTCATCAAAATTACTA	0.328																																						ENST00000399799.1																			0				NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16						c.(1105-1107)Gat>Aat		Rho-associated, coiled-coil containing protein kinase 1							142.0	145.0	144.0					18																	18608843		2203	4299	6502	SO:0001583	missense	6093				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr18:18608843C>T		CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.1105G>A	18.37:g.18608843C>T	ENSP00000382697:p.Asp369Asn						p.D369N	NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN			10	2045	-	Melanoma(1;0.165)		369			AGC-kinase C-terminal.|Interaction with FHOD1.		B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	c.1105G>A	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	C	36	5.786476	0.96937	.	.	ENSG00000067900	ENST00000399799	D	0.84800	-1.9	5.67	5.67	0.87782	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.92515	0.7623	M	0.91717	3.235	0.80722	D	1	P	0.47841	0.901	P	0.52189	0.692	D	0.93678	0.6996	10	0.87932	D	0	.	19.7863	0.96440	0.0:1.0:0.0:0.0	.	369	Q13464	ROCK1_HUMAN	N	369	ENSP00000382697:D369N	ENSP00000382697:D369N	D	-	1	0	ROCK1	16862841	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.712000	0.84684	2.665000	0.90641	0.655000	0.94253	GAT		0.328	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		32	59	0	0	0	1	0	32	59				
TENM1	10178	broad.mit.edu	37	X	123657442	123657442	+	Silent	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:123657442G>C	ENST00000371130.3	-	17	2868	c.2805C>G	c.(2803-2805)gtC>gtG	p.V935V	TENM1_ENST00000422452.2_Silent_p.V935V	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	935					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										AGATTAAGATGACAGAGATGC	0.403																																						ENST00000422452.2																			0											c.(2803-2805)gtC>gtG		teneurin transmembrane protein 1							73.0	62.0	66.0					X																	123657442		2203	4300	6503	SO:0001819	synonymous_variant	10178							g.chrX:123657442G>C	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.2805C>G	X.37:g.123657442G>C						TENM1_ENST00000371130.3_Silent_p.V935V	p.V935V	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					17	2868	-								B2RTR5|Q5JZ17	Silent	SNP	ENST00000371130.3	37	c.2805C>G	CCDS14609.1																																																																																				0.403	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		19	67	0	0	0	1	0	19	67				
VPS53	55275	broad.mit.edu	37	17	613847	613847	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:613847G>C	ENST00000571805.1	-	2	230	c.94C>G	c.(94-96)Cca>Gca	p.P32A	VPS53_ENST00000437048.2_Missense_Mutation_p.P32A|VPS53_ENST00000401468.3_Missense_Mutation_p.P32A|VPS53_ENST00000446250.2_5'UTR|VPS53_ENST00000574029.1_Missense_Mutation_p.P32A|VPS53_ENST00000291074.5_Missense_Mutation_p.P32A			Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	32					protein transport (GO:0015031)	endosome (GO:0005768)|GARP complex (GO:0000938)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		TCCTGGCTTGGAAACACCTAT	0.378																																						ENST00000437048.2																			0				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19						c.(94-96)Cca>Gca		vacuolar protein sorting 53 homolog (S. cerevisiae)							97.0	94.0	95.0					17																	613847		2203	4300	6503	SO:0001583	missense	55275				protein transport	endosome membrane|Golgi apparatus		g.chr17:613847G>C		CCDS10995.1, CCDS45558.1	17p13.3	2007-07-13	2006-12-19			ENSG00000141252			25608	protein-coding gene	gene with protein product		615850	"""vacuolar protein sorting 53 (yeast)"""			15878329	Standard	NM_018289		Approved	FLJ10979, HCCS1	uc010cjo.2	Q5VIR6		ENST00000571805.1:c.94C>G	17.37:g.613847G>C	ENSP00000459312:p.Pro32Ala					VPS53_ENST00000446250.2_5'UTR|VPS53_ENST00000574029.1_Missense_Mutation_p.P32A|VPS53_ENST00000401468.3_Missense_Mutation_p.P32A|VPS53_ENST00000291074.5_Missense_Mutation_p.P32A|VPS53_ENST00000571805.1_Missense_Mutation_p.P32A	p.P32A	NM_001128159.2	NP_001121631.1	Q5VIR6	VPS53_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)	2	240	-			32					A8K2S8|B3FH42|Q8WYW3|Q9BRR2|Q9BY02|Q9NV25	Missense_Mutation	SNP	ENST00000571805.1	37	c.94C>G		.	.	.	.	.	.	.	.	.	.	G	16.09	3.023804	0.54683	.	.	ENSG00000141252	ENST00000437048;ENST00000291074;ENST00000401468;ENST00000389040	T;T;T;T	0.48836	1.45;1.4;0.8;1.49	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.65790	0.2725	M	0.67397	2.05	0.80722	D	1	D;P;P;P	0.63880	0.993;0.58;0.63;0.746	D;B;B;P	0.68192	0.956;0.407;0.293;0.487	T	0.69928	-0.5012	10	0.72032	D	0.01	-9.3649	15.2103	0.73219	0.0:0.0:1.0:0.0	.	32;32;32;32	E7EVT8;Q5VIR6-4;Q5VIR6;Q5VIR6-2	.;.;VPS53_HUMAN;.	A	32	ENSP00000401435:P32A;ENSP00000291074:P32A;ENSP00000384294:P32A;ENSP00000373692:P32A	ENSP00000291074:P32A	P	-	1	0	VPS53	560597	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	8.264000	0.89866	2.165000	0.68154	0.491000	0.48974	CCA		0.378	VPS53-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000436940.2	NM_018289		25	50	0	0	0	1	0	25	50				
NMNAT1	64802	broad.mit.edu	37	1	10042519	10042519	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:10042519G>A	ENST00000377205.1	+	5	744	c.600G>A	c.(598-600)tcG>tcA	p.S200S	RP11-807G9.2_ENST00000413148.1_RNA	NM_022787.3	NP_073624.2	Q9HAN9	NMNA1_HUMAN	nicotinamide nucleotide adenylyltransferase 1	200					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nicotinamide-nucleotide adenylyltransferase activity (GO:0000309)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)			large_intestine(2)|lung(2)|stomach(1)	5		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.31e-08)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(185;0.00028)|BRCA - Breast invasive adenocarcinoma(304;0.00032)|KIRC - Kidney renal clear cell carcinoma(229;0.00101)|STAD - Stomach adenocarcinoma(132;0.00908)|READ - Rectum adenocarcinoma(331;0.0419)		TCTATGAATCGGATGTGCTGT	0.473																																						ENST00000377205.1																			0				large_intestine(2)|lung(2)|stomach(1)	5						c.(598-600)tcG>tcA		nicotinamide nucleotide adenylyltransferase 1							136.0	129.0	131.0					1																	10042519		2203	4300	6503	SO:0001819	synonymous_variant	64802				water-soluble vitamin metabolic process	nucleoplasm	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity|protein binding	g.chr1:10042519G>A	AF312734	CCDS108.1, CCDS72698.1	1p36.22	2014-01-28	2003-04-30	2003-05-02	ENSG00000173614	ENSG00000173614	2.7.7.1		17877	protein-coding gene	gene with protein product		608700	"""nicotinamide nucleotide adenylyltransferase"", ""Leber congenital amaurosis 9"", ""Leber's congenital amaurosis 9"""	LCA9		11248244, 11027696, 22842227	Standard	XR_244792		Approved	NMNAT, PNAT1	uc001aqp.3	Q9HAN9	OTTHUMG00000001799	ENST00000377205.1:c.600G>A	1.37:g.10042519G>A							p.S200S	NM_022787.3	NP_073624.2	Q9HAN9	NMNA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.31e-08)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(185;0.00028)|BRCA - Breast invasive adenocarcinoma(304;0.00032)|KIRC - Kidney renal clear cell carcinoma(229;0.00101)|STAD - Stomach adenocarcinoma(132;0.00908)|READ - Rectum adenocarcinoma(331;0.0419)	5	744	+		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	200					B1AN63|Q8TAE9|Q9H247|Q9H6B6	Silent	SNP	ENST00000377205.1	37	c.600G>A	CCDS108.1																																																																																				0.473	NMNAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005029.1			6	139	0	0	0	1	0	6	139				
SLC6A9	6536	broad.mit.edu	37	1	44474213	44474213	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:44474213G>C	ENST00000360584.2	-	5	812	c.621C>G	c.(619-621)ttC>ttG	p.F207L	SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000537678.1_Missense_Mutation_p.F69L|SLC6A9_ENST00000372306.3_Missense_Mutation_p.F134L|SLC6A9_ENST00000357730.2_Missense_Mutation_p.F153L|SLC6A9_ENST00000372310.3_Missense_Mutation_p.F134L|SLC6A9_ENST00000372307.3_Missense_Mutation_p.F69L|SLC6A9_ENST00000475075.2_Missense_Mutation_p.F23L	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	207					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	TGGACGAGAAGAAGTAGTAGA	0.567																																						ENST00000372310.3																			0				endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22						c.(400-402)ttC>ttG		solute carrier family 6 (neurotransmitter transporter, glycine), member 9	Glycine(DB00145)						116.0	90.0	99.0					1																	44474213		2203	4300	6503	SO:0001583	missense	6536					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr1:44474213G>C	S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"""Solute carriers"""	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000360584.2:c.621C>G	1.37:g.44474213G>C	ENSP00000353791:p.Phe207Leu					SLC6A9_ENST00000537678.1_Missense_Mutation_p.F69L|SLC6A9_ENST00000372307.3_Missense_Mutation_p.F69L|SLC6A9_ENST00000360584.2_Missense_Mutation_p.F207L|SLC6A9_ENST00000357730.2_Missense_Mutation_p.F153L|SLC6A9_ENST00000372306.3_Missense_Mutation_p.F134L|SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000475075.2_Missense_Mutation_p.F23L	p.F134L	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN			5	567	-	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	207					A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Missense_Mutation	SNP	ENST00000360584.2	37	c.402C>G	CCDS41317.1	.	.	.	.	.	.	.	.	.	.	G	3.443	-0.113567	0.06881	.	.	ENSG00000196517	ENST00000372307;ENST00000372306;ENST00000372310;ENST00000475075;ENST00000360584;ENST00000357730;ENST00000537678	T;T;T;T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48;-0.48;-0.48;-0.48	5.73	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.63082	0.2481	N	0.04508	-0.205	0.80722	D	1	P;B;B;B;B;D	0.76494	0.815;0.03;0.03;0.024;0.024;0.999	P;B;B;B;B;D	0.80764	0.477;0.02;0.02;0.043;0.043;0.994	T	0.58875	-0.7559	10	0.02654	T	1	.	15.202	0.73147	0.0687:0.0:0.9313:0.0	.	138;134;69;134;153;207	B7Z3W8;B7Z8W5;B7Z3A9;P48067-2;P48067-3;P48067	.;.;.;.;.;SC6A9_HUMAN	L	69;134;134;23;207;153;69	ENSP00000361381:F69L;ENSP00000361380:F134L;ENSP00000361384:F134L;ENSP00000434460:F23L;ENSP00000353791:F207L;ENSP00000350362:F153L;ENSP00000442523:F69L	ENSP00000350362:F153L	F	-	3	2	SLC6A9	44246800	1.000000	0.71417	1.000000	0.80357	0.326000	0.28443	3.689000	0.54706	2.726000	0.93360	0.650000	0.86243	TTC		0.567	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000022825.2	NM_201649		20	59	0	0	0	1	0	20	59				
TLN2	83660	broad.mit.edu	37	15	62986551	62986551	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr15:62986551G>A	ENST00000561311.1	+	13	1482	c.1252G>A	c.(1252-1254)Gag>Aag	p.E418K	TLN2_ENST00000306829.6_Missense_Mutation_p.E418K			Q9Y4G6	TLN2_HUMAN	talin 2	418					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AGAAGGTGATGAGGAGTCAAC	0.433																																						ENST00000561311.1																			0				NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(1252-1254)Gag>Aag		talin 2							132.0	122.0	125.0					15																	62986551		2203	4300	6503	SO:0001583	missense	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:62986551G>A	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.1252G>A	15.37:g.62986551G>A	ENSP00000453508:p.Glu418Lys					TLN2_ENST00000306829.6_Missense_Mutation_p.E418K	p.E418K			Q9Y4G6	TLN2_HUMAN			13	1482	+			418					A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.1252G>A	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	36	5.682311	0.96774	.	.	ENSG00000171914	ENST00000306829	T	0.71817	-0.6	5.74	5.74	0.90152	.	0.044304	0.85682	D	0.000000	D	0.86665	0.5987	M	0.84948	2.725	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	D	0.87389	0.2362	10	0.72032	D	0.01	-34.4752	20.2825	0.98528	0.0:0.0:1.0:0.0	.	418	Q9Y4G6	TLN2_HUMAN	K	418	ENSP00000303476:E418K	ENSP00000303476:E418K	E	+	1	0	TLN2	60773843	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.758000	0.98927	2.873000	0.98535	0.561000	0.74099	GAG		0.433	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			12	29	0	0	0	1	0	12	29				
HDAC6	10013	broad.mit.edu	37	X	48661586	48661586	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:48661586G>A	ENST00000334136.5	+	4	452	c.274G>A	c.(274-276)Gag>Aag	p.E92K	HDAC6_ENST00000469223.1_3'UTR|HDAC6_ENST00000444343.2_Missense_Mutation_p.E106K|HDAC6_ENST00000376619.2_Missense_Mutation_p.E92K|HDAC6_ENST00000413163.2_Missense_Mutation_p.E37K			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	92	Histone deacetylase 1.				aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	GGTGTTGGATGAGCAGTTAAA	0.488																																					Pancreas(112;205 1675 2305 8976 15959)	ENST00000334136.5																			0				breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(274-276)Gag>Aag		histone deacetylase 6	Vorinostat(DB02546)						81.0	62.0	68.0					X																	48661586		2203	4300	6503	SO:0001583	missense	10013				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding	g.chrX:48661586G>A	AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 90"""	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.274G>A	X.37:g.48661586G>A	ENSP00000334061:p.Glu92Lys					HDAC6_ENST00000376619.2_Missense_Mutation_p.E92K|HDAC6_ENST00000444343.2_Missense_Mutation_p.E106K|HDAC6_ENST00000413163.2_Missense_Mutation_p.E37K|HDAC6_ENST00000469223.1_3'UTR	p.E92K			Q9UBN7	HDAC6_HUMAN			4	452	+			92			Histone deacetylase 1.		O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	ENST00000334136.5	37	c.274G>A	CCDS14306.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.641146	0.87859	.	.	ENSG00000094631	ENST00000423941;ENST00000376643;ENST00000444343;ENST00000376610;ENST00000334136;ENST00000376619;ENST00000436813;ENST00000413163;ENST00000441703;ENST00000426196;ENST00000443563;ENST00000440653	T;T;T;T	0.63580	0.13;0.14;0.14;-0.05	4.83	4.83	0.62350	Histone deacetylase domain (1);	0.191111	0.43260	D	0.000599	T	0.74168	0.3681	M	0.89785	3.06	0.39345	D	0.965649	P;B;P;P	0.51537	0.747;0.161;0.846;0.946	P;B;P;P	0.48840	0.497;0.292;0.497;0.592	T	0.80736	-0.1249	10	0.46703	T	0.11	-5.3989	14.2531	0.66033	0.0:0.0:1.0:0.0	.	82;37;92;92	B4DZN1;E7EUZ1;Q9UBN7;Q9BRX7	.;.;HDAC6_HUMAN;.	K	92;92;106;92;92;92;92;37;92;92;92;92	ENSP00000398566:E106K;ENSP00000334061:E92K;ENSP00000365804:E92K;ENSP00000398801:E37K	ENSP00000334061:E92K	E	+	1	0	HDAC6	48546530	1.000000	0.71417	0.958000	0.39756	0.913000	0.54294	3.855000	0.55957	2.237000	0.73441	0.529000	0.55759	GAG		0.488	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2	NM_006044		10	18	0	0	0	1	0	10	18				
PCDH19	57526	broad.mit.edu	37	X	99662473	99662473	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:99662473C>A	ENST00000373034.4	-	1	2798	c.1123G>T	c.(1123-1125)Gat>Tat	p.D375Y	PCDH19_ENST00000420881.2_Missense_Mutation_p.D375Y|PCDH19_ENST00000255531.7_Missense_Mutation_p.D375Y	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	375	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GAGTCGCGATCAGACACCCGC	0.587																																						ENST00000373034.4																			0				breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						c.(1123-1125)Gat>Tat		protocadherin 19							59.0	60.0	60.0					X																	99662473		2191	4275	6466	SO:0001583	missense	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99662473C>A	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.1123G>T	X.37:g.99662473C>A	ENSP00000362125:p.Asp375Tyr					PCDH19_ENST00000420881.2_Missense_Mutation_p.D375Y|PCDH19_ENST00000255531.7_Missense_Mutation_p.D375Y	p.D375Y	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN			1	2798	-			375			Cadherin 4.		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	c.1123G>T	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.027132	0.75390	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	D;D;D	0.83163	-1.69;-1.69;-1.69	5.95	5.95	0.96441	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.95417	0.8512	H	0.98918	4.37	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97196	0.9861	10	0.87932	D	0	.	19.254	0.93938	0.0:1.0:0.0:0.0	.	375;375;375	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	Y	375	ENSP00000400327:D375Y;ENSP00000362125:D375Y;ENSP00000255531:D375Y	ENSP00000255531:D375Y	D	-	1	0	PCDH19	99549129	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.498000	0.84270	0.513000	0.50165	GAT		0.587	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		42	95	1	0	6.2361e-21	1	6.79901e-21	42	95				
ZNF532	55205	broad.mit.edu	37	18	56585722	56585722	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr18:56585722T>C	ENST00000336078.4	+	4	979	c.203T>C	c.(202-204)gTt>gCt	p.V68A	ZNF532_ENST00000591083.1_Missense_Mutation_p.V68A|ZNF532_ENST00000589288.1_Missense_Mutation_p.V68A|ZNF532_ENST00000591808.1_Missense_Mutation_p.V68A|ZNF532_ENST00000591230.1_Missense_Mutation_p.V68A	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	68					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						GTCAAGAATGTTCGGAACATT	0.517																																						ENST00000336078.4																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						c.(202-204)gTt>gCt		zinc finger protein 532							94.0	77.0	83.0					18																	56585722		2203	4300	6503	SO:0001583	missense	55205				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:56585722T>C	AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"""Zinc fingers, C2H2-type"""	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.203T>C	18.37:g.56585722T>C	ENSP00000338217:p.Val68Ala					ZNF532_ENST00000591083.1_Missense_Mutation_p.V68A|ZNF532_ENST00000591808.1_Missense_Mutation_p.V68A|ZNF532_ENST00000591230.1_Missense_Mutation_p.V68A|ZNF532_ENST00000589288.1_Missense_Mutation_p.V68A	p.V68A	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN			4	979	+			68					Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Missense_Mutation	SNP	ENST00000336078.4	37	c.203T>C	CCDS11969.1	.	.	.	.	.	.	.	.	.	.	T	15.96	2.985738	0.53934	.	.	ENSG00000074657	ENST00000336078	T	0.01538	4.79	5.31	5.31	0.75309	.	0.124852	0.56097	D	0.000036	T	0.03305	0.0096	M	0.67953	2.075	0.48288	D	0.99962	P	0.45396	0.857	B	0.37550	0.253	T	0.47548	-0.9109	10	0.62326	D	0.03	-0.7883	15.2262	0.73354	0.0:0.0:0.0:1.0	.	68	Q9HCE3	ZN532_HUMAN	A	68	ENSP00000338217:V68A	ENSP00000338217:V68A	V	+	2	0	ZNF532	54736702	1.000000	0.71417	0.196000	0.23383	0.020000	0.10135	5.845000	0.69437	2.125000	0.65367	0.528000	0.53228	GTT		0.517	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	NM_018181		16	39	0	0	0	1	0	16	39				
HSPH1	10808	broad.mit.edu	37	13	31728851	31728851	+	Silent	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr13:31728851C>T	ENST00000320027.5	-	4	692	c.348G>A	c.(346-348)caG>caA	p.Q116Q	HSPH1_ENST00000380406.5_Intron|HSPH1_ENST00000429785.2_Silent_p.Q13Q|HSPH1_ENST00000380405.4_Silent_p.Q116Q|HSPH1_ENST00000445273.2_Silent_p.Q118Q	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	116					chaperone mediated protein folding requiring cofactor (GO:0051085)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of NK T cell activation (GO:0051135)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		TGGCTGTTATCTGCTCCACAC	0.348																																						ENST00000320027.5																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27						c.(346-348)caG>caA		heat shock 105kDa/110kDa protein 1							159.0	139.0	145.0					13																	31728851		2203	4300	6503	SO:0001819	synonymous_variant	10808				positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding	g.chr13:31728851C>T	AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694		"""Heat shock proteins / HSP70"""	16969	protein-coding gene	gene with protein product		610703				9610721, 9931472	Standard	XM_005266236		Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685	ENST00000320027.5:c.348G>A	13.37:g.31728851C>T						HSPH1_ENST00000429785.2_Silent_p.Q13Q|HSPH1_ENST00000445273.2_Silent_p.Q118Q|HSPH1_ENST00000380406.5_Intron|HSPH1_ENST00000380405.4_Silent_p.Q116Q	p.Q116Q	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)	4	692	-		Lung SC(185;0.0257)	116					B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Silent	SNP	ENST00000320027.5	37	c.348G>A	CCDS9340.1																																																																																				0.348	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044384.1			17	43	0	0	0	1	0	17	43				
INPP4B	8821	broad.mit.edu	37	4	143033698	143033698	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr4:143033698T>G	ENST00000513000.1	-	23	2706	c.2273A>C	c.(2272-2274)gAa>gCa	p.E758A	INPP4B_ENST00000308502.4_Missense_Mutation_p.E758A|INPP4B_ENST00000509777.1_Missense_Mutation_p.E758A|INPP4B_ENST00000508116.1_Missense_Mutation_p.E758A|INPP4B_ENST00000262992.4_Missense_Mutation_p.E758A	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	758					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					AGCTTACCTTTCAGCCAGAGT	0.373																																						ENST00000513000.1																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(2272-2274)gAa>gCa		inositol polyphosphate-4-phosphatase, type II, 105kDa							124.0	123.0	123.0					4																	143033698		2203	4300	6503	SO:0001583	missense	8821				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr4:143033698T>G	U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.2273A>C	4.37:g.143033698T>G	ENSP00000425487:p.Glu758Ala					INPP4B_ENST00000308502.4_Missense_Mutation_p.E758A|INPP4B_ENST00000262992.4_Missense_Mutation_p.E758A|INPP4B_ENST00000508116.1_Missense_Mutation_p.E758A|INPP4B_ENST00000509777.1_Missense_Mutation_p.E758A	p.E758A	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN			23	2706	-	all_hematologic(180;0.158)		758					Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Missense_Mutation	SNP	ENST00000513000.1	37	c.2273A>C	CCDS3757.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.417764	0.83449	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000543161;ENST00000508116;ENST00000509777;ENST00000511838;ENST00000542702;ENST00000510812;ENST00000514525	T;T;T;T;T;T;T;T	0.35789	1.75;1.75;1.75;1.75;1.74;1.75;1.29;1.3	5.8	5.8	0.92144	.	0.103621	0.64402	D	0.000005	T	0.54919	0.1888	M	0.85710	2.77	0.80722	D	1	P	0.43287	0.802	P	0.48840	0.592	T	0.59069	-0.7523	10	0.44086	T	0.13	.	16.1401	0.81517	0.0:0.0:0.0:1.0	.	758	O15327	INP4B_HUMAN	A	758;758;758;629;758;758;573;573;758;629	ENSP00000425487:E758A;ENSP00000262992:E758A;ENSP00000308441:E758A;ENSP00000423954:E758A;ENSP00000422793:E758A;ENSP00000426207:E573A;ENSP00000427250:E758A;ENSP00000421065:E629A	ENSP00000262992:E758A	E	-	2	0	INPP4B	143253148	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.321000	0.79088	2.206000	0.71126	0.528000	0.53228	GAA		0.373	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866		25	60	0	0	0	1	0	25	60				
DSCC1	79075	broad.mit.edu	37	8	120862657	120862657	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr8:120862657C>G	ENST00000313655.4	-	3	665	c.451G>C	c.(451-453)Gac>Cac	p.D151H		NM_024094.2	NP_076999.2	Q9BVC3	DCC1_HUMAN	DNA replication and sister chromatid cohesion 1	151					DNA replication (GO:0006260)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTTTGACTGTCAGGTCCTTCA	0.303																																						ENST00000313655.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9						c.(451-453)Gac>Cac		DNA replication and sister chromatid cohesion 1							76.0	78.0	78.0					8																	120862657		2200	4294	6494	SO:0001583	missense	79075				DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication	chromatin|chromosome, centromeric region|nucleoplasm	DNA binding|protein binding	g.chr8:120862657C>G		CCDS6330.1	8q24.12	2013-05-24	2013-05-24		ENSG00000136982	ENSG00000136982			24453	protein-coding gene	gene with protein product	"""defective in sister chromatid cohesion homolog 1 (S. cerevisiae)"""	613203	"""defective in sister chromatid cohesion 1 homolog (S. cerevisiae)"""			12766176, 20826785	Standard	NM_024094		Approved	DCC1, hDCC1, MGC5528	uc003yov.3	Q9BVC3	OTTHUMG00000165010	ENST00000313655.4:c.451G>C	8.37:g.120862657C>G	ENSP00000322180:p.Asp151His						p.D151H	NM_024094.2	NP_076999.2	Q9BVC3	DCC1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		3	665	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		151					Q969N5	Missense_Mutation	SNP	ENST00000313655.4	37	c.451G>C	CCDS6330.1	.	.	.	.	.	.	.	.	.	.	C	18.88	3.717709	0.68844	.	.	ENSG00000136982	ENST00000313655	T	0.49720	0.77	4.79	4.79	0.61399	.	0.227964	0.43747	D	0.000521	T	0.63141	0.2486	M	0.72894	2.215	0.46849	D	0.999225	P	0.51147	0.942	P	0.55260	0.772	T	0.65903	-0.6055	10	0.51188	T	0.08	-19.5319	18.0251	0.89266	0.0:1.0:0.0:0.0	.	151	Q9BVC3	DCC1_HUMAN	H	151	ENSP00000322180:D151H	ENSP00000322180:D151H	D	-	1	0	DSCC1	120931838	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.083000	0.64456	2.508000	0.84585	0.655000	0.94253	GAC		0.303	DSCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381443.1	NM_024094		14	40	0	0	0	1	0	14	40				
FHIT	2272	broad.mit.edu	37	3	60522666	60522666	+	Missense_Mutation	SNP	G	G	C	rs149317894		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:60522666G>C	ENST00000468189.1	-	5	400	c.30C>G	c.(28-30)atC>atG	p.I10M	FHIT_ENST00000476844.1_Missense_Mutation_p.I10M|FHIT_ENST00000341848.4_Missense_Mutation_p.I10M|FHIT_ENST00000492590.1_Missense_Mutation_p.I10M			P49789	FHIT_HUMAN	fragile histidine triad	10	HIT. {ECO:0000255|PROSITE- ProRule:PRU00464}.				DNA replication (GO:0006260)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide metabolic process (GO:0009117)|purine nucleotide metabolic process (GO:0006163)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|catalytic activity (GO:0003824)|hydrolase activity (GO:0016787)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)	12		all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408)		UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448)		CAGAGGGCTTGATGAGATGTT	0.378			T	HMGA2	pleomorphic salivary gland adenoma				Renal Cell Cancer associated with constitutional translocation of chromosome 3																													ENST00000468189.1				Dom	yes		3	3p14.2	2272	T	fragile histidine triad gene			E	HMGA2		pleomorphic salivary gland adenoma		0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)	12						c.(28-30)atC>atG		fragile histidine triad		G	MET/ILE,MET/ILE	0,4406		0,0,2203	98.0	90.0	93.0		30,30	6.1	1.0	3	dbSNP_134	93	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	FHIT	NM_001166243.1,NM_002012.2	10,10	0,2,6501	CC,CG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	10/148,10/148	60522666	2,13004	2203	4300	6503	SO:0001583	missense	2272	Renal Cell Cancer associated with constitutional translocation of chromosome 3	Familial Cancer Database		nucleotide metabolic process		bis(5'-adenosyl)-triphosphatase activity|protein binding	g.chr3:60522666G>C	BC032336	CCDS2894.1	3p14.2	2012-02-27	2012-02-27		ENSG00000189283	ENSG00000189283			3701	protein-coding gene	gene with protein product		601153	"""fragile histidine triad gene"""			8598045, 9671749	Standard	NM_002012		Approved	FRA3B, AP3Aase	uc003dky.3	P49789	OTTHUMG00000158591	ENST00000468189.1:c.30C>G	3.37:g.60522666G>C	ENSP00000417480:p.Ile10Met					FHIT_ENST00000341848.4_Missense_Mutation_p.I10M|FHIT_ENST00000476844.1_Missense_Mutation_p.I10M|FHIT_ENST00000492590.1_Missense_Mutation_p.I10M	p.I10M			P49789	FHIT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448)	5	400	-		all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408)	10			HIT.		A2IAS9|A2IAT0|A2IAT6|A8K1A9|Q45QG9|Q6IU12	Missense_Mutation	SNP	ENST00000468189.1	37	c.30C>G	CCDS2894.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.361068	0.82353	0.0	2.33E-4	ENSG00000189283	ENST00000492590;ENST00000476844;ENST00000468189;ENST00000341848;ENST00000488467	.	.	.	6.08	6.08	0.98989	Histidine triad motif (1);Histidine triad-like motif (1);	0.056069	0.64402	D	0.000003	D	0.86789	0.6017	M	0.93241	3.395	0.46096	D	0.998867	D	0.69078	0.997	D	0.70487	0.969	D	0.89006	0.3425	8	.	.	.	-0.7468	18.8526	0.92238	0.0:0.0:1.0:0.0	.	10	P49789	FHIT_HUMAN	M	10	.	.	I	-	3	3	FHIT	60497706	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.016000	0.64041	2.894000	0.99253	0.591000	0.81541	ATC		0.378	FHIT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351648.1	NM_002012		17	42	0	0	0	1	0	17	42				
BEND3	57673	broad.mit.edu	37	6	107390474	107390474	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:107390474C>T	ENST00000369042.1	-	4	2111	c.1921G>A	c.(1921-1923)Gag>Aag	p.E641K	BEND3_ENST00000429433.2_Missense_Mutation_p.E641K			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	641	BEN 3. {ECO:0000255|PROSITE- ProRule:PRU00784}.									central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						CGGCAGCGCTCATCCAGTTTG	0.652																																						ENST00000429433.2																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						c.(1921-1923)Gag>Aag		BEN domain containing 3							24.0	27.0	26.0					6																	107390474		2203	4298	6501	SO:0001583	missense	57673							g.chr6:107390474C>T	AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"""BEN domain containing"""	23040	protein-coding gene	gene with protein product			"""KIAA1553"""	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.1921G>A	6.37:g.107390474C>T	ENSP00000358038:p.Glu641Lys					BEND3_ENST00000369042.1_Missense_Mutation_p.E641K	p.E641K	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN			5	2570	-			641			BEN 3.		A2RRH2|Q9HCL9	Missense_Mutation	SNP	ENST00000369042.1	37	c.1921G>A	CCDS34507.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.155778	0.57259	.	.	ENSG00000178409	ENST00000369042;ENST00000429433	T;T	0.44482	0.92;0.92	4.43	4.43	0.53597	BEN domain (2);	0.000000	0.85682	D	0.000000	T	0.44265	0.1285	L	0.27053	0.805	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	T	0.52593	-0.8555	10	0.87932	D	0	-0.0543	17.2308	0.86984	0.0:1.0:0.0:0.0	.	641	Q5T5X7	BEND3_HUMAN	K	641	ENSP00000358038:E641K;ENSP00000411268:E641K	ENSP00000358038:E641K	E	-	1	0	BEND3	107497167	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	7.273000	0.78527	2.292000	0.77174	0.555000	0.69702	GAG		0.652	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041686.1	NM_020913		16	46	0	0	0	1	0	16	46				
ZNF814	730051	broad.mit.edu	37	19	58384327	58384327	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:58384327C>T	ENST00000435989.2	-	3	2665	c.2431G>A	c.(2431-2433)Gaa>Aaa	p.E811K	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	811					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						CTGGAGCTTTCAGCAAAAGAT	0.388																																						ENST00000435989.2																			0				NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(2431-2433)Gaa>Aaa		zinc finger protein 814							102.0	90.0	94.0					19																	58384327		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58384327C>T		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.2431G>A	19.37:g.58384327C>T	ENSP00000410545:p.Glu811Lys					ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron	p.E811K	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN			3	2665	-			811					A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.2431G>A	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	13.95	2.391335	0.42410	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.35789	1.29	2.43	-4.87	0.03123	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11836	0.0288	N	0.04669	-0.19	0.09310	N	1	B	0.19583	0.037	B	0.16289	0.015	T	0.11717	-1.0576	9	0.25106	T	0.35	.	1.291	0.02060	0.2609:0.2598:0.3492:0.1301	.	811	B7Z6K7	ZN814_HUMAN	K	811;533	ENSP00000410545:E811K	ENSP00000365378:E533K	E	-	1	0	ZNF814	63076139	0.000000	0.05858	0.000000	0.03702	0.461000	0.32589	-6.068000	0.00082	-2.672000	0.00413	0.121000	0.15741	GAA		0.388	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		13	47	0	0	0	1	0	13	47				
DGKK	139189	broad.mit.edu	37	X	50131609	50131609	+	RNA	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:50131609G>A	ENST00000376025.2	-	0	1993							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GTGTTGGATGGCAGCAGCCTA	0.498																																						ENST00000376025.2																			0				central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45								diacylglycerol kinase, kappa							132.0	116.0	121.0					X																	50131609		1995	4153	6148			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50131609G>A	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50131609G>A										Q5KSL6	DGKK_HUMAN			0	1993	-	Ovarian(276;0.236)							B2RP91	RNA	SNP	ENST00000376025.2	37																																																																																						0.498	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		9	15	0	0	0	1	0	9	15				
ABCA3	21	broad.mit.edu	37	16	2336736	2336736	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr16:2336736C>A	ENST00000301732.5	-	22	3937	c.3237G>T	c.(3235-3237)caG>caT	p.Q1079H	ABCA3_ENST00000382381.3_Missense_Mutation_p.Q1021H	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1079					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	CGCTCCGGGGCTGGGGGAAGT	0.647																																						ENST00000301732.5																			0				breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70						c.(3235-3237)caG>caT		ATP-binding cassette, sub-family A (ABC1), member 3							86.0	90.0	89.0					16																	2336736		2198	4300	6498	SO:0001583	missense	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2336736C>A	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.3237G>T	16.37:g.2336736C>A	ENSP00000301732:p.Gln1079His					ABCA3_ENST00000382381.3_Missense_Mutation_p.Q1021H	p.Q1079H	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN			22	3937	-		Ovarian(90;0.17)	1079					B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	37	c.3237G>T	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.156911	0.38119	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D	0.87103	-2.21	4.26	3.3	0.37823	.	0.236907	0.44688	D	0.000440	D	0.92064	0.7485	M	0.85859	2.78	0.80722	D	1	P;D	0.59357	0.792;0.985	P;D	0.67103	0.643;0.949	D	0.91676	0.5354	10	0.66056	D	0.02	.	7.9888	0.30229	0.0:0.8115:0.0:0.1885	.	1083;1079	Q4LE27;Q99758	.;ABCA3_HUMAN	H	1079;1083	ENSP00000301732:Q1079H	ENSP00000301732:Q1079H	Q	-	3	2	ABCA3	2276737	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.628000	0.54259	2.388000	0.81334	0.555000	0.69702	CAG		0.647	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		45	113	1	0	1.06522e-23	1	1.1655e-23	45	113				
SOX17	64321	broad.mit.edu	37	8	55372372	55372372	+	Silent	SNP	C	C	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr8:55372372C>A	ENST00000297316.4	+	2	1266	c.1062C>A	c.(1060-1062)ctC>ctA	p.L354L		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	354	Sox C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00849}.				angiogenesis (GO:0001525)|canonical Wnt signaling pathway (GO:0060070)|cardiac cell fate determination (GO:0060913)|cardiogenic plate morphogenesis (GO:0003142)|cell migration involved in gastrulation (GO:0042074)|common bile duct development (GO:0061009)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cell differentiation (GO:0060956)|endocardium formation (GO:0060214)|endoderm formation (GO:0001706)|endodermal cell fate determination (GO:0007493)|endodermal digestive tract morphogenesis (GO:0061031)|gall bladder development (GO:0061010)|heart formation (GO:0060914)|heart looping (GO:0001947)|inner cell mass cellular morphogenesis (GO:0001828)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth (GO:0030308)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell differentiation (GO:0045597)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein destabilization (GO:0031648)|protein stabilization (GO:0050821)|regulation of cardiac cell fate specification (GO:2000043)|regulation of embryonic development (GO:0045995)|regulation of stem cell division (GO:2000035)|regulation of stem cell proliferation (GO:0072091)|regulation of transcription from RNA polymerase II promoter involved in definitive endodermal cell fate specification (GO:0060807)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|rostrocaudal neural tube patterning (GO:0021903)|signal transduction involved in regulation of gene expression (GO:0023019)|spermatogenesis (GO:0007283)|stem cell fate specification (GO:0048866)|vasculogenesis (GO:0001570)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			CCGCCGAGCTCCTCGGGGAGG	0.687																																						ENST00000297316.4																			0				endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18						c.(1060-1062)ctC>ctA		SRY (sex determining region Y)-box 17							23.0	28.0	26.0					8																	55372372		2202	4300	6502	SO:0001819	synonymous_variant	64321				angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr8:55372372C>A	AB073988	CCDS6159.1	8q11.23	2014-09-04			ENSG00000164736	ENSG00000164736		"""SRY (sex determining region Y)-boxes"""	18122	protein-coding gene	gene with protein product		610928				11786926	Standard	NM_022454		Approved		uc003xsb.4	Q9H6I2	OTTHUMG00000164377	ENST00000297316.4:c.1062C>A	8.37:g.55372372C>A							p.L354L	NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)		2	1266	+		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	354			Sox C-terminal.			Silent	SNP	ENST00000297316.4	37	c.1062C>A	CCDS6159.1																																																																																				0.687	SOX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378526.2			7	19	1	0	1.26484e-09	1	1.32283e-09	7	19				
USP34	9736	broad.mit.edu	37	2	61492647	61492647	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:61492647C>T	ENST00000398571.2	-	43	5739	c.5663G>A	c.(5662-5664)cGt>cAt	p.R1888H		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1888					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.R1888H(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ACATTCAGCACGGACATCTTC	0.428																																						ENST00000398571.2																			1	Substitution - Missense(1)	p.R1888H(1)	endometrium(1)	autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(5662-5664)cGt>cAt		ubiquitin specific peptidase 34							148.0	137.0	140.0					2																	61492647		1889	4115	6004	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61492647C>T	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.5663G>A	2.37:g.61492647C>T	ENSP00000381577:p.Arg1888His						p.R1888H	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		43	5739	-			1888					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.5663G>A	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	C	34	5.395580	0.96009	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571;ENST00000453734	T;T	0.06768	3.4;3.26	5.24	4.35	0.52113	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.27663	0.0680	M	0.82517	2.595	0.54753	D	0.999988	D	0.57899	0.981	P	0.60415	0.874	T	0.03555	-1.1025	10	0.87932	D	0	.	14.1268	0.65225	0.0:0.9265:0.0:0.0735	.	1888	Q70CQ2	UBP34_HUMAN	H	1736;1736;1888;166	ENSP00000381577:R1888H;ENSP00000410559:R166H	ENSP00000263989:R1736H	R	-	2	0	USP34	61346151	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.074000	0.71253	2.469000	0.83416	0.650000	0.86243	CGT		0.428	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			30	106	0	0	0	1	0	30	106				
CNTN3	5067	broad.mit.edu	37	3	74350882	74350882	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:74350882C>A	ENST00000263665.6	-	14	1888	c.1861G>T	c.(1861-1863)Ggt>Tgt	p.G621C		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	621	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TTGTCTTTACCTTCTTTCCAA	0.463																																						ENST00000263665.6																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83						c.(1861-1863)Ggt>Tgt		contactin 3 (plasmacytoma associated)							325.0	286.0	299.0					3																	74350882		2203	4300	6503	SO:0001583	missense	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74350882C>A	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.1861G>T	3.37:g.74350882C>A	ENSP00000263665:p.Gly621Cys						p.G621C	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	14	1888	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	621			Fibronectin type-III 1.		B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	c.1861G>T	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.986609	0.93106	.	.	ENSG00000113805	ENST00000263665	T	0.54675	0.56	5.98	5.98	0.97165	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.82893	0.5136	H	0.95950	3.745	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87239	0.2265	10	0.87932	D	0	.	20.4366	0.99092	0.0:1.0:0.0:0.0	.	621	Q9P232	CNTN3_HUMAN	C	621	ENSP00000263665:G621C	ENSP00000263665:G621C	G	-	1	0	CNTN3	74433572	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	7.202000	0.77856	2.837000	0.97791	0.591000	0.81541	GGT		0.463	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		14	66	1	0	1.49906e-05	1	1.52884e-05	14	66				
OTOA	146183	broad.mit.edu	37	16	21742218	21742218	+	Silent	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr16:21742218C>T	ENST00000286149.4	+	20	2311	c.2310C>T	c.(2308-2310)ttC>ttT	p.F770F	OTOA_ENST00000388956.4_Silent_p.F677F|OTOA_ENST00000388958.3_Silent_p.F756F|OTOA_ENST00000388957.3_Silent_p.F432F			Q7RTW8	OTOAN_HUMAN	otoancorin	770					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		TAGTACTTTTCTCAGGAGATG	0.428																																						ENST00000388958.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46						c.(2266-2268)ttC>ttT		otoancorin							49.0	42.0	44.0					16																	21742218		2195	4279	6474	SO:0001819	synonymous_variant	146183				sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		g.chr16:21742218C>T	AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"""cancer/testis antigen 108"""	607038	"""deafness, autosomal recessive 22"""	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.2310C>T	16.37:g.21742218C>T						OTOA_ENST00000286149.4_Silent_p.F770F|OTOA_ENST00000388956.4_Silent_p.F677F|OTOA_ENST00000388957.3_Silent_p.F432F	p.F756F	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN		GBM - Glioblastoma multiforme(48;0.0414)	20	2269	+			770					A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Silent	SNP	ENST00000286149.4	37	c.2268C>T																																																																																					0.428	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1			8	8	0	0	0	1	0	8	8				
RTN1	6252	broad.mit.edu	37	14	60194227	60194227	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr14:60194227G>A	ENST00000267484.5	-	3	1510	c.1175C>T	c.(1174-1176)cCg>cTg	p.P392L		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	392					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)		p.P392L(1)		central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GATGGTTGGCGGTCCGGACCT	0.672																																						ENST00000267484.5																			1	Substitution - Missense(1)	p.P392L(1)	large_intestine(1)	central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49						c.(1174-1176)cCg>cTg		reticulon 1							16.0	16.0	16.0					14																	60194227		2197	4292	6489	SO:0001583	missense	6252				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	g.chr14:60194227G>A	L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"""neuroendocrine-specific protein"""	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.1175C>T	14.37:g.60194227G>A	ENSP00000267484:p.Pro392Leu						p.P392L	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0968)	3	1510	-			392					Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	ENST00000267484.5	37	c.1175C>T	CCDS9740.1	.	.	.	.	.	.	.	.	.	.	G	5.132	0.209891	0.09757	.	.	ENSG00000139970	ENST00000267484;ENST00000433623	T	0.21543	2.0	5.49	-0.677	0.11357	.	1.223610	0.05794	N	0.610853	T	0.07098	0.0180	N	0.01048	-1.04	0.28392	N	0.919033	B	0.02656	0.0	B	0.01281	0.0	T	0.32981	-0.9886	10	0.33940	T	0.23	.	6.9424	0.24500	0.3684:0.4399:0.1917:0.0	.	392	Q16799	RTN1_HUMAN	L	392;318	ENSP00000267484:P392L	ENSP00000267484:P392L	P	-	2	0	RTN1	59263980	0.022000	0.18835	0.967000	0.41034	0.084000	0.17831	0.028000	0.13644	-0.016000	0.14127	-0.878000	0.02970	CCG		0.672	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2			3	8	0	0	0	1	0	3	8				
NAALADL2	254827	broad.mit.edu	37	3	175189432	175189432	+	Missense_Mutation	SNP	C	C	G	rs544372366	byFrequency	TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:175189432C>G	ENST00000454872.1	+	9	1667	c.1539C>G	c.(1537-1539)ttC>ttG	p.F513L	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	513						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		TTCAGGATTTCAAGAAGGTTC	0.333																																						ENST00000454872.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49						c.(1537-1539)ttC>ttG		N-acetylated alpha-linked acidic dipeptidase-like 2							57.0	46.0	50.0					3																	175189432		1797	4064	5861	SO:0001583	missense	254827				proteolysis	integral to membrane	peptidase activity	g.chr3:175189432C>G		CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase II-type non-peptidase homologue"""	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.1539C>G	3.37:g.175189432C>G	ENSP00000404705:p.Phe513Leu					NAALADL2_ENST00000473253.1_3'UTR	p.F513L	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)	9	1667	+	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	513					Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Missense_Mutation	SNP	ENST00000454872.1	37	c.1539C>G	CCDS46960.1	.	.	.	.	.	.	.	.	.	.	C	1.654	-0.513340	0.04200	.	.	ENSG00000177694	ENST00000454872	T	0.35236	1.32	5.36	2.44	0.29823	Peptidase M28 (1);	0.247473	0.40728	N	0.001032	T	0.25121	0.0610	L	0.46157	1.445	0.21627	N	0.999616	B	0.18166	0.026	B	0.19946	0.027	T	0.21280	-1.0250	10	0.12103	T	0.63	-7.0712	6.4447	0.21869	0.0:0.6412:0.1352:0.2236	.	513	Q58DX5	NADL2_HUMAN	L	513	ENSP00000404705:F513L	ENSP00000404705:F513L	F	+	3	2	NAALADL2	176672126	1.000000	0.71417	0.995000	0.50966	0.734000	0.41952	1.147000	0.31602	0.693000	0.31634	0.460000	0.39030	TTC		0.333	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015		7	12	0	0	0	1	0	7	12				
CDH23	64072	broad.mit.edu	37	10	73572554	73572554	+	Silent	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr10:73572554C>G	ENST00000224721.6	+	67	9560	c.9555C>G	c.(9553-9555)gtC>gtG	p.V3185V	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Silent_p.V940V	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	3180					calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CAGCAGCTGTCAAGCCTGATG	0.592																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(9553-9555)gtC>gtG		cadherin-related 23							45.0	49.0	48.0					10																	73572554		2089	4216	6305	SO:0001819	synonymous_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73572554C>G	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.9555C>G	10.37:g.73572554C>G						CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Silent_p.V940V	p.V3185V	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			67	9560	+			3180					C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	ENST00000224721.6	37	c.9555C>G																																																																																					0.592	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		8	21	0	0	0	1	0	8	21				
UNC5A	90249	broad.mit.edu	37	5	176301330	176301330	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:176301330C>T	ENST00000329542.4	+	8	1415	c.1141C>T	c.(1141-1143)Ctc>Ttc	p.L381F	UNC5A_ENST00000261961.3_Missense_Mutation_p.L341F	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	381					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCAGGGCAGTCTCTGTCCCCG	0.642																																						ENST00000329542.4																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34						c.(1141-1143)Ctc>Ttc		unc-5 homolog A (C. elegans)							77.0	85.0	82.0					5																	176301330		2203	4300	6503	SO:0001583	missense	90249				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane		g.chr5:176301330C>T	AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"""Immunoglobulin superfamily / I-set domain containing"""	12567	protein-coding gene	gene with protein product		607869	"""unc5 (C.elegans homolog) a"""				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.1141C>T	5.37:g.176301330C>T	ENSP00000332737:p.Leu381Phe					UNC5A_ENST00000261961.3_Missense_Mutation_p.L341F	p.L381F	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		8	1415	+	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	381					B2RXE6|Q8TF26|Q96GP4	Missense_Mutation	SNP	ENST00000329542.4	37	c.1141C>T	CCDS34299.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.339072	0.81911	.	.	ENSG00000113763	ENST00000329542;ENST00000261961	T;T	0.52754	0.65;0.98	5.34	4.46	0.54185	.	0.000000	0.64402	D	0.000002	T	0.56863	0.2014	L	0.52573	1.65	0.80722	D	1	D;D	0.67145	0.99;0.996	P;D	0.65233	0.897;0.933	T	0.52403	-0.8580	10	0.35671	T	0.21	-9.9212	10.6969	0.45905	0.0:0.8516:0.0:0.1484	.	341;381	Q6ZN44-3;Q6ZN44	.;UNC5A_HUMAN	F	381;341	ENSP00000332737:L381F;ENSP00000261961:L341F	ENSP00000261961:L341F	L	+	1	0	UNC5A	176233936	0.997000	0.39634	1.000000	0.80357	0.990000	0.78478	2.657000	0.46724	2.512000	0.84698	0.484000	0.47621	CTC		0.642	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1	XM_030300		49	150	0	0	0	1	0	49	150				
RC3H1	149041	broad.mit.edu	37	1	173952772	173952772	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:173952772G>C	ENST00000367696.2	-	4	727	c.376C>G	c.(376-378)Cag>Gag	p.Q126E	RC3H1_ENST00000367694.2_Missense_Mutation_p.Q126E|RC3H1_ENST00000258349.4_Missense_Mutation_p.Q126E			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	126					B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						AGAACACTCTGAGTAGTGCTG	0.458																																						ENST00000367696.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						c.(376-378)Cag>Gag		ring finger and CCCH-type domains 1							108.0	105.0	106.0					1																	173952772		2203	4300	6503	SO:0001583	missense	149041				cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:173952772G>C	AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	29434	protein-coding gene	gene with protein product	"""KIAA2025 protein"""	609424	"""ring finger and CCCH-type zinc finger domains 1"""			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.376C>G	1.37:g.173952772G>C	ENSP00000356669:p.Gln126Glu					RC3H1_ENST00000367694.2_Missense_Mutation_p.Q126E|RC3H1_ENST00000258349.4_Missense_Mutation_p.Q126E	p.Q126E			Q5TC82	RC3H1_HUMAN			4	727	-			126					B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Missense_Mutation	SNP	ENST00000367696.2	37	c.376C>G	CCDS30940.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.278443	0.59758	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	D;D;D	0.93133	-3.17;-3.17;-3.17	5.29	5.29	0.74685	.	0.047669	0.85682	D	0.000000	D	0.88727	0.6515	N	0.16478	0.41	0.80722	D	1	B;B;B;B	0.29136	0.15;0.15;0.234;0.067	B;B;B;B	0.32090	0.066;0.066;0.14;0.059	D	0.85408	0.1135	10	0.31617	T	0.26	-10.1893	19.2792	0.94046	0.0:0.0:1.0:0.0	.	126;126;126;126	B9EGU6;B7ZMB3;Q5TC82-2;Q5TC82	.;.;.;RC3H1_HUMAN	E	126	ENSP00000356669:Q126E;ENSP00000258349:Q126E;ENSP00000356667:Q126E	ENSP00000258349:Q126E	Q	-	1	0	RC3H1	172219395	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	9.420000	0.97426	2.630000	0.89119	0.557000	0.71058	CAG		0.458	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	NM_172071		18	64	0	0	0	1	0	18	64				
SLIT2	9353	broad.mit.edu	37	4	20599966	20599966	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr4:20599966C>T	ENST00000504154.1	+	33	3892	c.3640C>T	c.(3640-3642)Cgt>Tgt	p.R1214C	SLIT2_ENST00000503837.1_Missense_Mutation_p.R1210C|SLIT2_ENST00000503823.1_Missense_Mutation_p.R1206C|SLIT2_ENST00000273739.5_Missense_Mutation_p.R1227C	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1214	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CTATCGGGGGCGTGTTCGTGC	0.473																																						ENST00000504154.1																			0				NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(3640-3642)Cgt>Tgt		slit homolog 2 (Drosophila)							153.0	142.0	146.0					4																	20599966		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20599966C>T	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.3640C>T	4.37:g.20599966C>T	ENSP00000422591:p.Arg1214Cys					SLIT2_ENST00000503837.1_Missense_Mutation_p.R1210C|SLIT2_ENST00000503823.1_Missense_Mutation_p.R1206C|SLIT2_ENST00000273739.5_Missense_Mutation_p.R1227C	p.R1214C	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			33	3892	+			1214			Laminin G-like.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.3640C>T	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	c	20.9	4.067908	0.76301	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.36	5.36	0.76844	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.161948	0.56097	D	0.000027	D	0.85919	0.5809	M	0.84326	2.69	0.80722	D	1	D;D	0.55605	0.972;0.958	P;P	0.55011	0.54;0.766	D	0.87845	0.2654	10	0.72032	D	0.01	.	15.2561	0.73585	0.1488:0.8512:0.0:0.0	.	1206;1214	O94813-3;O94813	.;SLIT2_HUMAN	C	1206;1214;1227;1210;1210	ENSP00000427548:R1206C;ENSP00000422591:R1214C;ENSP00000273739:R1227C;ENSP00000422261:R1210C	ENSP00000273739:R1227C	R	+	1	0	SLIT2	20209064	0.998000	0.40836	0.712000	0.30502	0.795000	0.44927	3.639000	0.54339	2.678000	0.91216	0.644000	0.83932	CGT		0.473	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			41	114	0	0	0	1	0	41	114				
C12orf40	283461	broad.mit.edu	37	12	40078724	40078724	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:40078724G>C	ENST00000324616.5	+	10	1496	c.1342G>C	c.(1342-1344)Gat>Cat	p.D448H	C12orf40_ENST00000405531.3_Missense_Mutation_p.D448H	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	448										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						CTTTGGACTTGATGAGGTAAA	0.353																																						ENST00000324616.5																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						c.(1342-1344)Gat>Cat		chromosome 12 open reading frame 40							137.0	131.0	133.0					12																	40078724		1883	4108	5991	SO:0001583	missense	283461							g.chr12:40078724G>C	AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.1342G>C	12.37:g.40078724G>C	ENSP00000317671:p.Asp448His					C12orf40_ENST00000405531.3_Missense_Mutation_p.D448H	p.D448H	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN			10	1496	+			448					B7WNU1|Q8IXY6|Q8N818|V9HW02	Missense_Mutation	SNP	ENST00000324616.5	37	c.1342G>C	CCDS41770.1	.	.	.	.	.	.	.	.	.	.	G	9.345	1.064144	0.20067	.	.	ENSG00000180116	ENST00000405531;ENST00000324616	T;T	0.49432	0.78;0.79	5.15	-0.243	0.13035	.	1.185250	0.06055	N	0.657376	T	0.29783	0.0744	N	0.14661	0.345	0.09310	N	1	P	0.43094	0.799	B	0.41202	0.35	T	0.20371	-1.0277	10	0.49607	T	0.09	.	4.3425	0.11117	0.3542:0.0:0.4957:0.1501	.	448	Q86WS4	CL040_HUMAN	H	448	ENSP00000383897:D448H;ENSP00000317671:D448H	ENSP00000317671:D448H	D	+	1	0	C12orf40	38364991	0.001000	0.12720	0.002000	0.10522	0.046000	0.14306	0.125000	0.15749	0.101000	0.17610	0.655000	0.94253	GAT		0.353	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257664.2	NM_173599		23	39	0	0	0	1	0	23	39				
PLIN4	729359	broad.mit.edu	37	19	4510825	4510825	+	Silent	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:4510825G>C	ENST00000301286.3	-	3	3104	c.3105C>G	c.(3103-3105)ctC>ctG	p.L1035L		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	1035						cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GGAAGGTGCTGAGGCCAGTGT	0.622																																						ENST00000301286.3																			0				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						c.(3103-3105)ctC>ctG		perilipin 4							72.0	81.0	78.0					19																	4510825		2125	4249	6374	SO:0001819	synonymous_variant	729359					lipid particle|plasma membrane		g.chr19:4510825G>C	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.3105C>G	19.37:g.4510825G>C							p.L1035L	NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN			3	3104	-			1035					A6NEI2	Silent	SNP	ENST00000301286.3	37	c.3105C>G	CCDS45927.1																																																																																				0.622	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		13	67	0	0	0	1	0	13	67				
KLHL31	401265	broad.mit.edu	37	6	53519582	53519582	+	Silent	SNP	C	C	T	rs561277191	byFrequency	TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:53519582C>T	ENST00000407079.1	-	1	488	c.489G>A	c.(487-489)ctG>ctA	p.L163L	KLHL31_ENST00000370905.3_Silent_p.L163L			Q9H511	KLH31_HUMAN	kelch-like family member 31	163					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					TCTCCCGTATCAGAAAATCAC	0.383																																						ENST00000370905.3																			0				autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20						c.(487-489)ctG>ctA		kelch-like family member 31							71.0	74.0	73.0					6																	53519582		2203	4300	6503	SO:0001819	synonymous_variant	401265				regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr6:53519582C>T		CCDS34478.1	6p12.1	2013-09-27	2013-02-22	2007-01-09	ENSG00000124743	ENSG00000124743		"""Kelch-like"", ""BTB/POZ domain containing"""	21353	protein-coding gene	gene with protein product		610749	"""kelch repeat and BTB (POZ) domain containing 1"", ""kelch-like 31 (Drosophila)"""	KBTBD1			Standard	NM_001003760		Approved	bA345L23.2, BKLHD6	uc003pcb.4	Q9H511	OTTHUMG00000014882	ENST00000407079.1:c.489G>A	6.37:g.53519582C>T						KLHL31_ENST00000407079.1_Silent_p.L163L	p.L163L	NM_001003760.4	NP_001003760.2	Q9H511	KLH31_HUMAN			2	629	-	Lung NSC(77;0.0158)		163					A6N9J2|B2RP49	Silent	SNP	ENST00000407079.1	37	c.489G>A	CCDS34478.1																																																																																				0.383	KLHL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040965.1	NM_001003760		18	86	0	0	0	1	0	18	86				
TMEM47	83604	broad.mit.edu	37	X	34657458	34657458	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:34657458G>C	ENST00000275954.3	-	2	531	c.273C>G	c.(271-273)atC>atG	p.I91M		NM_031442.3	NP_113630.1	Q9BQJ4	TMM47_HUMAN	transmembrane protein 47	91						cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CAATGAGAATGATGGCAGCGC	0.448																																						ENST00000275954.3																			0				breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(271-273)atC>atG		transmembrane protein 47							75.0	64.0	68.0					X																	34657458		2202	4300	6502	SO:0001583	missense	83604					integral to membrane		g.chrX:34657458G>C	AK090917	CCDS14235.1	Xp11.4	2008-02-05	2005-03-21	2005-03-21	ENSG00000147027	ENSG00000147027			18515	protein-coding gene	gene with protein product		300698	"""transmembrane 4 superfamily member 10"""	TM4SF10		11472633	Standard	NM_031442		Approved	BCMP1, DKFZP761J17121, DKFZp564E153	uc004ddh.3	Q9BQJ4	OTTHUMG00000021343	ENST00000275954.3:c.273C>G	X.37:g.34657458G>C	ENSP00000275954:p.Ile91Met						p.I91M	NM_031442.3	NP_113630.1	Q9BQJ4	TMM47_HUMAN			2	531	-			91					Q5JR44	Missense_Mutation	SNP	ENST00000275954.3	37	c.273C>G	CCDS14235.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.183106	0.38511	.	.	ENSG00000147027	ENST00000275954	T	0.69040	-0.37	5.71	5.71	0.89125	.	0.050924	0.85682	D	0.000000	T	0.58206	0.2106	L	0.43923	1.385	0.50313	D	0.999869	P	0.36753	0.568	B	0.35413	0.202	T	0.59091	-0.7519	10	0.37606	T	0.19	-23.9581	13.1399	0.59428	0.0809:0.0:0.9191:0.0	.	91	Q9BQJ4	TMM47_HUMAN	M	91	ENSP00000275954:I91M	ENSP00000275954:I91M	I	-	3	3	TMEM47	34567379	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.627000	0.24506	2.391000	0.81399	0.538000	0.68166	ATC		0.448	TMEM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056209.1	NM_031442		5	14	0	0	0	1	0	5	14				
RWDD1	51389	broad.mit.edu	37	6	116910017	116910017	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:116910017C>G	ENST00000466444.2	+	4	499	c.283C>G	c.(283-285)Ctt>Gtt	p.L95V	RWDD1_ENST00000487832.2_5'UTR|RWDD1_ENST00000392526.1_5'UTR	NM_015952.2	NP_057036.2	Q9H446	RWDD1_HUMAN	RWD domain containing 1	95	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.									NS(1)|breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)	12		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.0312)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)|Epithelial(106;0.161)		TGAAGAAAATCTTGGTATGGT	0.289																																						ENST00000466444.2																			0				NS(1)|breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)	12						c.(283-285)Ctt>Gtt		RWD domain containing 1							69.0	72.0	71.0					6																	116910017		2203	4296	6499	SO:0001583	missense	51389						protein binding	g.chr6:116910017C>G	AF092134	CCDS34520.1, CCDS43496.1	6q13-q22.33	2012-12-07			ENSG00000111832	ENSG00000111832			20993	protein-coding gene	gene with protein product						10810093	Standard	NM_016104		Approved	PTD013	uc003pxd.3	Q9H446	OTTHUMG00000015441	ENST00000466444.2:c.283C>G	6.37:g.116910017C>G	ENSP00000420357:p.Leu95Val					RWDD1_ENST00000392526.1_5'UTR|RWDD1_ENST00000487832.2_5'UTR	p.L95V	NM_015952.2	NP_057036.2	Q9H446	RWDD1_HUMAN		GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.0312)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)|Epithelial(106;0.161)	4	499	+		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	95			RWD.		A8K3W2|A8MT24|Q9Y313|Q9Y6B3	Missense_Mutation	SNP	ENST00000466444.2	37	c.283C>G	CCDS34520.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.996455	0.74818	.	.	ENSG00000111832	ENST00000466444	T	0.44482	0.92	5.15	5.15	0.70609	Ubiquitin-conjugating enzyme/RWD-like (2);RWD domain (3);	0.000000	0.85682	D	0.000000	T	0.42562	0.1208	M	0.80508	2.5	0.80722	D	1	P	0.43542	0.81	P	0.46940	0.532	T	0.47649	-0.9101	10	0.49607	T	0.09	-16.3931	12.4766	0.55819	0.0:0.9114:0.0:0.0886	.	95	Q9H446	RWDD1_HUMAN	V	95	ENSP00000420357:L95V	ENSP00000420357:L95V	L	+	1	0	RWDD1	117016710	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	3.278000	0.51662	2.370000	0.80446	0.585000	0.79938	CTT		0.289	RWDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041952.2	NM_015952		22	40	0	0	0	1	0	22	40				
EMC7	56851	broad.mit.edu	37	15	34382527	34382527	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr15:34382527C>T	ENST00000256545.4	-	3	594	c.486G>A	c.(484-486)atG>atA	p.M162I		NM_020154.2	NP_064539.1	Q9NPA0	EMC7_HUMAN	ER membrane protein complex subunit 7	162						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										CCATTGGGTTCATTAGAAAGT	0.408																																						ENST00000256545.4																			0											c.(484-486)atG>atA		ER membrane protein complex subunit 7							102.0	96.0	98.0					15																	34382527		2201	4298	6499	SO:0001583	missense	56851							g.chr15:34382527C>T	AJ245874	CCDS10032.1	15q14	2012-05-30	2012-05-30	2012-05-30	ENSG00000134153	ENSG00000134153			24301	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 24"""	C15orf24		10873569, 22119785	Standard	NM_020154		Approved	C11orf3	uc001zhm.3	Q9NPA0	OTTHUMG00000129367	ENST00000256545.4:c.486G>A	15.37:g.34382527C>T	ENSP00000256545:p.Met162Ile						p.M162I	NM_020154.2	NP_064539.1					3	594	-								B2RC00|Q96ED5	Missense_Mutation	SNP	ENST00000256545.4	37	c.486G>A	CCDS10032.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.33|17.33	3.362074|3.362074	0.61403|0.61403	.|.	.|.	ENSG00000134153|ENSG00000134153	ENST00000527822|ENST00000256545	.|.	.|.	.|.	5.81|5.81	5.81|5.81	0.92471|0.92471	.|Domain of unknown function DUF2012 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.62134|0.62134	0.2403|0.2403	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	.|P	.|0.38827	.|0.649	.|B	.|0.38921	.|0.285	T|T	0.58014|0.58014	-0.7711|-0.7711	5|9	.|0.22109	.|T	.|0.4	-19.3903|-19.3903	20.0805|20.0805	0.97772|0.97772	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|162	.|Q9NPA0	.|CO024_HUMAN	K|I	112|162	.|.	.|ENSP00000256545:M162I	E|M	-|-	1|3	0|0	C15orf24|C15orf24	32169819|32169819	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	5.999000|5.999000	0.70665|0.70665	2.755000|2.755000	0.94549|0.94549	0.650000|0.650000	0.86243|0.86243	GAA|ATG		0.408	EMC7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251519.1	NM_020154		18	64	0	0	0	1	0	18	64				
DBNDD1	79007	broad.mit.edu	37	16	90075219	90075219	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr16:90075219C>T	ENST00000002501.6	-	3	423	c.292G>A	c.(292-294)Gag>Aag	p.E98K	DBNDD1_ENST00000304733.3_Missense_Mutation_p.E118K|DBNDD1_ENST00000392973.3_Missense_Mutation_p.E104K|DBNDD1_ENST00000568838.1_Missense_Mutation_p.E218K	NM_001042610.1	NP_001036075.1	Q9H9R9	DBND1_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 1	98						cytoplasm (GO:0005737)				kidney(1)|large_intestine(1)|lung(1)	3		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0275)		TTGAGGTTCTCGTCGTCCGAG	0.647																																						ENST00000392973.3																			0				kidney(1)|large_intestine(1)|lung(1)	3						c.(310-312)Gag>Aag		dysbindin (dystrobrevin binding protein 1) domain containing 1							40.0	44.0	43.0					16																	90075219		2035	4190	6225	SO:0001583	missense	79007					cytoplasm		g.chr16:90075219C>T	AK090696	CCDS10991.2, CCDS42223.1, CCDS73931.1	16q24.3	2008-02-05			ENSG00000003249	ENSG00000003249			28455	protein-coding gene	gene with protein product						12477932	Standard	NM_001288708		Approved	MGC3101, FLJ12582	uc002fqe.1	Q9H9R9	OTTHUMG00000138984	ENST00000002501.6:c.292G>A	16.37:g.90075219C>T	ENSP00000002501:p.Glu98Lys					DBNDD1_ENST00000304733.3_Missense_Mutation_p.E118K|DBNDD1_ENST00000002501.6_Missense_Mutation_p.E98K|DBNDD1_ENST00000568838.1_Missense_Mutation_p.E218K	p.E104K			Q9H9R9	DBND1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0275)	2	1041	-		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)	98					B4DQS3|Q69YT2|Q9BW25	Missense_Mutation	SNP	ENST00000002501.6	37	c.310G>A	CCDS42223.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.956499	0.73902	.	.	ENSG00000003249	ENST00000304733;ENST00000002501;ENST00000392973	T;T	0.56776	0.44;0.44	5.23	5.23	0.72850	.	0.052787	0.64402	D	0.000001	T	0.74891	0.3776	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.68192	0.956;0.945	T	0.77480	-0.2572	9	.	.	.	-24.1531	18.8051	0.92034	0.0:1.0:0.0:0.0	.	98;118	Q9H9R9;Q9H9R9-2	DBND1_HUMAN;.	K	118;98;218	ENSP00000306407:E118K;ENSP00000002501:E98K	.	E	-	1	0	DBNDD1	88602720	1.000000	0.71417	0.198000	0.23420	0.061000	0.15899	5.418000	0.66429	2.462000	0.83206	0.313000	0.20887	GAG		0.647	DBNDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272872.1	NM_024043		6	15	0	0	0	1	0	6	15				
TSGA10	80705	broad.mit.edu	37	2	99763938	99763938	+	Intron	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:99763938C>G	ENST00000393483.3	-	1	225				C2ORF15_ENST00000302513.2_Nonsense_Mutation_p.S3*|C2ORF15_ENST00000409684.1_Nonsense_Mutation_p.S3*	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10						cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						TTCATGTCCTCAACTCTGGGG	0.403																																						ENST00000302513.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(1)	6						c.(7-9)tCa>tGa		chromosome 2 open reading frame 15							117.0	114.0	115.0					2																	99763938		2203	4300	6503	SO:0001627	intron_variant	150590							g.chr2:99763938C>G	AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"""cancer/testis antigen 79"""	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.619+7217G>C	2.37:g.99763938C>G						TSGA10_ENST00000393483.3_Intron|C2orf15_ENST00000409684.1_Nonsense_Mutation_p.S3*	p.S3*	NM_144706.2	NP_653307.1	Q8WU43	CB015_HUMAN			3	644	+			3					B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Nonsense_Mutation	SNP	ENST00000393483.3	37	c.8C>G	CCDS2037.1	.	.	.	.	.	.	.	.	.	.	C	38	6.997281	0.97990	.	.	ENSG00000241962	ENST00000302513;ENST00000409684	.	.	.	2.39	2.39	0.29439	.	.	.	.	.	.	.	.	.	.	.	0.26323	N	0.977646	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.3929	0.32540	0.0:1.0:0.0:0.0	.	.	.	.	X	3	.	ENSP00000302202:S3X	S	+	2	0	C2orf15	99130370	0.087000	0.21565	0.160000	0.22671	0.963000	0.63663	1.611000	0.36879	1.656000	0.50722	0.650000	0.86243	TCA		0.403	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253125.1	NM_182911		18	61	0	0	0	1	0	18	61				
CUL1	8454	broad.mit.edu	37	7	148456685	148456685	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr7:148456685G>A	ENST00000325222.4	+	6	859	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K	CUL1_ENST00000602748.1_Missense_Mutation_p.E194K|CUL1_ENST00000409469.1_Missense_Mutation_p.E194K	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	194					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			AAGGAATGGTGAAACCATCAA	0.289																																						ENST00000325222.4																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40						c.(580-582)Gaa>Aaa		cullin 1							64.0	67.0	66.0					7																	148456685		2203	4299	6502	SO:0001583	missense	8454				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr7:148456685G>A	U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.580G>A	7.37:g.148456685G>A	ENSP00000326804:p.Glu194Lys					CUL1_ENST00000602748.1_Missense_Mutation_p.E194K|CUL1_ENST00000409469.1_Missense_Mutation_p.E194K	p.E194K	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		6	859	+	Melanoma(164;0.15)		194					D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	ENST00000325222.4	37	c.580G>A	CCDS34772.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.355309	0.82243	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583;ENST00000433865	T;T	0.75154	-0.91;-0.91	5.26	5.26	0.73747	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.208574	0.48767	D	0.000170	T	0.81531	0.4842	M	0.86651	2.83	0.80722	D	1	B	0.33807	0.426	B	0.38880	0.284	D	0.83578	0.0116	10	0.59425	D	0.04	-17.6086	18.5407	0.91027	0.0:0.0:1.0:0.0	.	194	Q13616	CUL1_HUMAN	K	194;194;152;121	ENSP00000387160:E194K;ENSP00000326804:E194K	ENSP00000326804:E194K	E	+	1	0	CUL1	148087618	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.570000	0.98174	2.484000	0.83849	0.644000	0.83932	GAA		0.289	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1	NM_003592		15	34	0	0	0	1	0	15	34				
MAP4K3	8491	broad.mit.edu	37	2	39564678	39564678	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:39564678C>G	ENST00000263881.3	-	5	679	c.355G>C	c.(355-357)Gaa>Caa	p.E119Q	MAP4K3_ENST00000437545.1_Missense_Mutation_p.E56Q|MAP4K3_ENST00000341681.5_Missense_Mutation_p.E119Q	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	119	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				TGCAGTGTTTCTCTGCTAACA	0.318																																						ENST00000263881.3																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(355-357)Gaa>Caa		mitogen-activated protein kinase kinase kinase kinase 3							122.0	119.0	120.0					2																	39564678		2203	4295	6498	SO:0001583	missense	8491				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:39564678C>G	AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.355G>C	2.37:g.39564678C>G	ENSP00000263881:p.Glu119Gln					MAP4K3_ENST00000341681.5_Missense_Mutation_p.E119Q|MAP4K3_ENST00000437545.1_Missense_Mutation_p.E56Q	p.E119Q	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN			5	679	-		all_hematologic(82;0.211)	119			Protein kinase.		Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Missense_Mutation	SNP	ENST00000263881.3	37	c.355G>C	CCDS1803.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.472530	0.84640	.	.	ENSG00000011566	ENST00000263881;ENST00000437545;ENST00000341681	T;T;T	0.18338	2.22;2.79;2.22	4.68	4.68	0.58851	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.17916	0.0430	N	0.02420	-0.555	0.80722	D	1	D;D	0.65815	0.99;0.995	P;D	0.77557	0.88;0.99	T	0.47774	-0.9091	9	.	.	.	.	16.7068	0.85374	0.0:1.0:0.0:0.0	.	119;119	Q8IVH8-3;Q8IVH8	.;M4K3_HUMAN	Q	119;56;119	ENSP00000263881:E119Q;ENSP00000416958:E56Q;ENSP00000345434:E119Q	.	E	-	1	0	MAP4K3	39418182	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.496000	0.73670	2.330000	0.79161	0.484000	0.47621	GAA		0.318	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2	NM_003618		8	34	0	0	0	1	0	8	34				
ANKRD24	170961	broad.mit.edu	37	19	4224440	4224440	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:4224440G>C	ENST00000600132.1	+	22	3655	c.3379G>C	c.(3379-3381)Gat>Cat	p.D1127H	ANKRD24_ENST00000318934.4_Missense_Mutation_p.D1127H|ANKRD24_ENST00000262970.5_Missense_Mutation_p.D1217H	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	1127										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		GATGGATGAAGATGTGCAGCG	0.592																																						ENST00000600132.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21						c.(3379-3381)Gat>Cat		ankyrin repeat domain 24							59.0	65.0	63.0					19																	4224440		2083	4233	6316	SO:0001583	missense	170961							g.chr19:4224440G>C	AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"""Ankyrin repeat domain containing"""	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.3379G>C	19.37:g.4224440G>C	ENSP00000471252:p.Asp1127His					ANKRD24_ENST00000318934.4_Missense_Mutation_p.D1127H|ANKRD24_ENST00000262970.5_Missense_Mutation_p.D1217H	p.D1127H	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)	22	3655	+			1127					O75268|O95781	Missense_Mutation	SNP	ENST00000600132.1	37	c.3379G>C	CCDS45925.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.575826	0.65878	.	.	ENSG00000089847	ENST00000318934;ENST00000262970	T;T	0.53640	0.61;0.61	5.48	5.48	0.80851	.	.	.	.	.	T	0.67135	0.2861	M	0.72353	2.195	0.34919	D	0.748291	D	0.61080	0.989	D	0.71656	0.974	T	0.77081	-0.2720	9	0.87932	D	0	.	14.8446	0.70251	0.0:0.0:1.0:0.0	.	1127	Q8TF21	ANR24_HUMAN	H	1127;1217	ENSP00000321731:D1127H;ENSP00000262970:D1217H	ENSP00000262970:D1217H	D	+	1	0	ANKRD24	4175440	1.000000	0.71417	0.289000	0.24876	0.696000	0.40369	6.903000	0.75703	2.594000	0.87642	0.484000	0.47621	GAT		0.592	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458188.1	XM_114000		10	14	0	0	0	1	0	10	14				
PCDH9	5101	broad.mit.edu	37	13	67802233	67802233	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr13:67802233C>G	ENST00000377865.2	-	1	474	c.340G>C	c.(340-342)Gag>Cag	p.E114Q	PCDH9_ENST00000328454.5_Missense_Mutation_p.E114Q|PCDH9_ENST00000456367.1_Missense_Mutation_p.E114Q|PCDH9_ENST00000377861.3_Missense_Mutation_p.E114Q|PCDH9_ENST00000544246.1_Missense_Mutation_p.E114Q			Q9HC56	PCDH9_HUMAN	protocadherin 9	114	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		ATCACCACCTCAAGTTCAAAG	0.423																																						ENST00000544246.1																			0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(340-342)Gag>Cag		protocadherin 9							81.0	79.0	80.0					13																	67802233		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67802233C>G	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.340G>C	13.37:g.67802233C>G	ENSP00000367096:p.Glu114Gln					PCDH9_ENST00000377865.2_Missense_Mutation_p.E114Q|PCDH9_ENST00000328454.5_Missense_Mutation_p.E114Q|PCDH9_ENST00000377861.3_Missense_Mutation_p.E114Q|PCDH9_ENST00000456367.1_Missense_Mutation_p.E114Q	p.E114Q	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	1031	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	114			Cadherin 1.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.340G>C	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.261563	0.59431	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63	5.94	5.94	0.96194	Cadherin, N-terminal (1);Cadherin (3);	0.000000	0.85682	D	0.000000	T	0.57651	0.2068	M	0.69358	2.11	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.986;0.999;0.999;1.0	T	0.54833	-0.8234	10	0.59425	D	0.04	.	20.3591	0.98849	0.0:1.0:0.0:0.0	.	114;114;114;114	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	Q	114	ENSP00000442186:E114Q;ENSP00000367096:E114Q;ENSP00000401699:E114Q;ENSP00000332060:E114Q;ENSP00000367092:E114Q	ENSP00000332060:E114Q	E	-	1	0	PCDH9	66700234	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.999000	0.70665	2.816000	0.96949	0.561000	0.74099	GAG		0.423	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		33	80	0	0	0	1	0	33	80				
SYNE1	23345	broad.mit.edu	37	6	152679603	152679603	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:152679603C>T	ENST00000367255.5	-	66	11114	c.10513G>A	c.(10513-10515)Gaa>Aaa	p.E3505K	SYNE1_ENST00000341594.5_Missense_Mutation_p.E3476K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E3512K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E3512K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E3505K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3505					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AACCAAACTTCAAATGCCTTT	0.418										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(10513-10515)Gaa>Aaa		spectrin repeat containing, nuclear envelope 1							176.0	157.0	164.0					6																	152679603		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152679603C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.10513G>A	6.37:g.152679603C>T	ENSP00000356224:p.Glu3505Lys	HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Missense_Mutation_p.E3512K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E3505K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E3476K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E3512K	p.E3505K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	66	11114	-		Ovarian(120;0.0955)	3505					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.10513G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	21.7	4.190634	0.78789	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.53857	0.6;1.18;0.6;1.18;0.6	5.35	4.47	0.54385	.	0.000000	0.64402	D	0.000012	T	0.45816	0.1361	L	0.54323	1.7	0.80722	D	1	P;P;P;P	0.51351	0.907;0.907;0.907;0.944	P;P;P;P	0.58454	0.553;0.553;0.553;0.839	T	0.53599	-0.8416	10	0.06236	T	0.91	.	15.9596	0.79918	0.0:0.8647:0.1353:0.0	.	3505;3505;3505;3512	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	K	3505;3512;3505;3512;3476	ENSP00000356224:E3505K;ENSP00000396024:E3512K;ENSP00000265368:E3505K;ENSP00000390975:E3512K;ENSP00000341887:E3476K	ENSP00000265368:E3505K	E	-	1	0	SYNE1	152721296	1.000000	0.71417	0.979000	0.43373	0.951000	0.60555	5.393000	0.66279	1.243000	0.43853	0.561000	0.74099	GAA		0.418	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		44	90	0	0	0	1	0	44	90				
CMYA5	202333	broad.mit.edu	37	5	79032926	79032926	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:79032926G>T	ENST00000446378.2	+	2	8369	c.8338G>T	c.(8338-8340)Gaa>Taa	p.E2780*		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2780					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TATCACAAAAGAAAGTATGAA	0.388																																						ENST00000446378.2																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(8338-8340)Gaa>Taa		cardiomyopathy associated 5							73.0	73.0	73.0					5																	79032926		1856	4090	5946	SO:0001587	stop_gained	202333					perinuclear region of cytoplasm		g.chr5:79032926G>T	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.8338G>T	5.37:g.79032926G>T	ENSP00000394770:p.Glu2780*						p.E2780*	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	8369	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	2780					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Nonsense_Mutation	SNP	ENST00000446378.2	37	c.8338G>T	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	G	49	14.980743	0.99817	.	.	ENSG00000164309	ENST00000446378	.	.	.	3.89	3.89	0.44902	.	0.471891	0.18058	N	0.153032	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	12.7035	0.57046	0.0:0.0:1.0:0.0	.	.	.	.	X	2780	.	ENSP00000394770:E2780X	E	+	1	0	CMYA5	79068682	0.993000	0.37304	0.561000	0.28357	0.789000	0.44602	4.147000	0.58078	2.007000	0.58848	0.591000	0.81541	GAA		0.388	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		16	23	1	0	1.52009e-12	1	1.60889e-12	16	23				
EBP	10682	broad.mit.edu	37	X	48382451	48382451	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:48382451T>A	ENST00000495186.1	+	2	1115	c.292T>A	c.(292-294)Tct>Act	p.S98T	EBP_ENST00000276096.6_3'UTR	NM_006579.2	NP_006570.1	Q15125	EBP_HUMAN	emopamil binding protein (sterol isomerase)	98					cholesterol biosynthetic process (GO:0006695)|cholesterol metabolic process (GO:0008203)|drug transmembrane transport (GO:0006855)|hemopoiesis (GO:0030097)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	C-8 sterol isomerase activity (GO:0000247)|cholestenol delta-isomerase activity (GO:0047750)|drug transmembrane transporter activity (GO:0015238)|steroid delta-isomerase activity (GO:0004769)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|stomach(1)	11					Tamoxifen(DB00675)	AGCCTTCTTATCTCAACTCTG	0.498																																					Ovarian(41;550 1000 33077 33474 52335)	ENST00000495186.1																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|stomach(1)	11	GRCh37	CM081231	EBP	M		c.(292-294)Tct>Act		emopamil binding protein (sterol isomerase)							101.0	83.0	90.0					X																	48382451		2203	4300	6503	SO:0001583	missense	10682				cholesterol biosynthetic process|skeletal system development	endoplasmic reticulum membrane|integral to plasma membrane	cholestenol delta-isomerase activity|drug transmembrane transporter activity|steroid delta-isomerase activity|transmembrane receptor activity	g.chrX:48382451T>A	Z37986	CCDS14300.1	Xp11.23-p11.22	2013-05-22	2001-11-28		ENSG00000147155	ENSG00000147155			3133	protein-coding gene	gene with protein product	"""3-beta-hydroxysteroid-delta-8,delta-7-isomerase"", ""Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome)"", ""sterol 8-isomerase"""	300205	"""emopamil-binding protein (sterol isomerase)"""	CDPX2		7706302, 8938429	Standard	NM_006579		Approved	CPX, CPXD, CHO2	uc004djx.4	Q15125	OTTHUMG00000034482	ENST00000495186.1:c.292T>A	X.37:g.48382451T>A	ENSP00000417052:p.Ser98Thr					EBP_ENST00000276096.6_3'UTR	p.S98T	NM_006579.2	NP_006570.1	Q15125	EBP_HUMAN			2	1115	+			98					Q6FGL3|Q6IBI9	Missense_Mutation	SNP	ENST00000495186.1	37	c.292T>A	CCDS14300.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.446309	0.84101	.	.	ENSG00000147155	ENST00000495186;ENST00000446158;ENST00000414061	D;D;D	0.98012	-4.66;-4.66;-4.66	5.7	5.7	0.88788	.	0.129343	0.53938	D	0.000049	D	0.98254	0.9422	M	0.79343	2.45	0.50632	D	0.999881	D	0.76494	0.999	D	0.72338	0.977	D	0.97931	1.0320	10	0.29301	T	0.29	-10.6315	11.2685	0.49124	0.0:0.0:0.0:1.0	.	98	Q15125	EBP_HUMAN	T	98	ENSP00000417052:S98T;ENSP00000390031:S98T;ENSP00000405832:S98T	ENSP00000405832:S98T	S	+	1	0	EBP	48267395	1.000000	0.71417	0.992000	0.48379	0.901000	0.52897	5.308000	0.65768	1.933000	0.56026	0.430000	0.28490	TCT		0.498	EBP-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083372.1	NM_006579		17	25	0	0	0	1	0	17	25				
TSPEAR	54084	broad.mit.edu	37	21	45949754	45949754	+	Silent	SNP	C	C	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr21:45949754C>A	ENST00000323084.4	-	5	782	c.717G>T	c.(715-717)gtG>gtT	p.V239V	TSPEAR_ENST00000397916.1_Silent_p.V171V	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	239	Laminin G-like.				sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						GGATGGACAGCACCGCCAGCG	0.642																																						ENST00000323084.4																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						c.(715-717)gtG>gtT		thrombospondin-type laminin G domain and EAR repeats							46.0	51.0	49.0					21																	45949754		2203	4300	6503	SO:0001819	synonymous_variant	54084				cell adhesion	extracellular region	structural molecule activity	g.chr21:45949754C>A	AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"""chromosome 21 open reading frame 29"", ""deafness, autosomal recessive 98"""	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.717G>T	21.37:g.45949754C>A						TSPEAR_ENST00000397916.1_Silent_p.V171V	p.V239V	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN			5	782	-			239						Silent	SNP	ENST00000323084.4	37	c.717G>T	CCDS13712.1																																																																																				0.642	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991		11	45	1	0	7.03913e-09	1	7.33689e-09	11	45				
TNFRSF8	943	broad.mit.edu	37	1	12172069	12172069	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:12172069G>C	ENST00000263932.2	+	7	1013	c.791G>C	c.(790-792)cGa>cCa	p.R264P	TNFRSF8_ENST00000417814.2_Missense_Mutation_p.R153P	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	264					cellular response to mechanical stimulus (GO:0071260)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of TRAIL biosynthetic process (GO:0045556)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Brentuximab vedotin(DB08870)	AGCTGTTCTCGAGGTAAGGGC	0.577																																						ENST00000263932.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27						c.(790-792)cGa>cCa		tumor necrosis factor receptor superfamily, member 8							38.0	37.0	38.0					1																	12172069		2203	4300	6503	SO:0001583	missense	943				cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane		g.chr1:12172069G>C	M83554	CCDS144.1, CCDS59989.1	1p36	2008-02-05			ENSG00000120949	ENSG00000120949		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11923	protein-coding gene	gene with protein product		153243		CD30, D1S166E		1330892, 1310894	Standard	XM_006711049		Approved	KI-1	uc001atq.3	P28908	OTTHUMG00000001827	ENST00000263932.2:c.791G>C	1.37:g.12172069G>C	ENSP00000263932:p.Arg264Pro					TNFRSF8_ENST00000417814.2_Missense_Mutation_p.R153P	p.R264P	NM_001243.3	NP_001234.2	P28908	TNR8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	7	1013	+	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	264					B1AN79|B9EGD9|D3YTD8|Q6P4D9	Missense_Mutation	SNP	ENST00000263932.2	37	c.791G>C	CCDS144.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.437996	0.25900	.	.	ENSG00000120949	ENST00000263932;ENST00000417814	D;D	0.89681	-2.55;-2.55	3.85	-0.314	0.12750	TNFR/CD27/30/40/95 cysteine-rich region (3);	12.359000	0.00166	N	0.000000	T	0.80423	0.4620	N	0.19112	0.55	0.09310	N	1	B;B	0.27013	0.003;0.166	B;B	0.30105	0.003;0.111	T	0.66352	-0.5945	10	0.25751	T	0.34	0.0701	3.6922	0.08350	0.3418:0.2007:0.4576:0.0	.	153;264	D3YTD8;P28908	.;TNR8_HUMAN	P	264;153	ENSP00000263932:R264P;ENSP00000390650:R153P	ENSP00000263932:R264P	R	+	2	0	TNFRSF8	12094656	0.274000	0.24191	0.012000	0.15200	0.177000	0.22998	0.298000	0.19120	-0.040000	0.13580	0.563000	0.77884	CGA		0.577	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005130.1			13	39	0	0	0	1	0	13	39				
C5orf22	55322	broad.mit.edu	37	5	31538724	31538724	+	Silent	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:31538724G>C	ENST00000325366.9	+	4	862	c.735G>C	c.(733-735)ggG>ggC	p.G245G	C5orf22_ENST00000355907.3_5'UTR	NM_018356.2	NP_060826.2	Q49AR2	CE022_HUMAN	chromosome 5 open reading frame 22	245										kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						TGAAGAAAGGGAAGGCATTTG	0.368																																						ENST00000325366.9																			0				kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						c.(733-735)ggG>ggC		chromosome 5 open reading frame 22							52.0	53.0	52.0					5																	31538724		2203	4300	6503	SO:0001819	synonymous_variant	55322							g.chr5:31538724G>C	AK002055	CCDS3895.1	5p13.3	2012-02-22			ENSG00000082213	ENSG00000082213			25639	protein-coding gene	gene with protein product							Standard	NM_018356		Approved	FLJ11193	uc003jhj.4	Q49AR2	OTTHUMG00000131067	ENST00000325366.9:c.735G>C	5.37:g.31538724G>C						C5orf22_ENST00000355907.3_5'UTR	p.G245G	NM_018356.2	NP_060826.2	Q49AR2	CE022_HUMAN			4	862	+			245					Q8ND28|Q8WU61|Q9NUR1	Silent	SNP	ENST00000325366.9	37	c.735G>C	CCDS3895.1																																																																																				0.368	C5orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253726.2	NM_018356		10	19	0	0	0	1	0	10	19				
SCN2A	6326	broad.mit.edu	37	2	166231294	166231294	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:166231294C>T	ENST00000375437.2	+	22	4362	c.4072C>T	c.(4072-4074)Ctc>Ttc	p.L1358F	SCN2A_ENST00000357398.3_Missense_Mutation_p.L1358F|SCN2A_ENST00000375427.2_Missense_Mutation_p.L1358F|SCN2A_ENST00000283256.6_Missense_Mutation_p.L1358F	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1358					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGGAGTGAATCTCTTTGCTGG	0.388																																						ENST00000375437.2																			0				NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(4072-4074)Ctc>Ttc		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						163.0	154.0	157.0					2																	166231294		2203	4300	6503	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166231294C>T	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.4072C>T	2.37:g.166231294C>T	ENSP00000364586:p.Leu1358Phe					SCN2A_ENST00000375427.2_Missense_Mutation_p.L1358F|SCN2A_ENST00000283256.6_Missense_Mutation_p.L1358F|SCN2A_ENST00000357398.3_Missense_Mutation_p.L1358F	p.L1358F	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN			22	4362	+			1358					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.4072C>T	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.624882	0.66901	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.99143	-5.48;-5.48;-5.48;-5.48	4.41	4.41	0.53225	Ion transport (1);	0.000000	0.52532	D	0.000064	D	0.98686	0.9559	L	0.55990	1.75	0.51767	D	0.999935	D;D	0.62365	0.981;0.991	P;D	0.68039	0.788;0.955	D	0.98523	1.0624	10	0.56958	D	0.05	.	10.9931	0.47561	0.0:0.913:0.0:0.087	.	1358;1358	Q99250-2;Q99250	.;SCN2A_HUMAN	F	1358	ENSP00000364586:L1358F;ENSP00000349973:L1358F;ENSP00000283256:L1358F;ENSP00000364576:L1358F	ENSP00000283256:L1358F	L	+	1	0	SCN2A	165939540	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.426000	0.59882	2.156000	0.67533	0.467000	0.42956	CTC		0.388	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		31	64	0	0	0	1	0	31	64				
SCNN1B	6338	broad.mit.edu	37	16	23390051	23390051	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr16:23390051C>G	ENST00000343070.2	+	11	1605	c.1429C>G	c.(1429-1431)Cag>Gag	p.Q477E	SCNN1B_ENST00000568085.1_Missense_Mutation_p.Q441E|SCNN1B_ENST00000307331.5_Missense_Mutation_p.Q522E|SCNN1B_ENST00000568923.1_Missense_Mutation_p.Q450E	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	477					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	CGTCTTGTCTCAGGAGCGGGA	0.592																																						ENST00000343070.2																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32						c.(1429-1431)Cag>Gag		sodium channel, non-voltage-gated 1, beta subunit	Amiloride(DB00594)|Triamterene(DB00384)						117.0	92.0	100.0					16																	23390051		2197	4300	6497	SO:0001583	missense	6338				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23390051C>G	X87159	CCDS10609.1	16p12.2-p12.1	2012-02-28	2012-02-28		ENSG00000168447	ENSG00000168447		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10600	protein-coding gene	gene with protein product	"""Liddle syndrome"""	600760	"""sodium channel, nonvoltage-gated 1, beta"", ""sodium channel, non-voltage-gated 1, beta"""				Standard	NM_000336		Approved	ENaCbeta	uc002dln.3	P51168	OTTHUMG00000131608	ENST00000343070.2:c.1429C>G	16.37:g.23390051C>G	ENSP00000345751:p.Gln477Glu					SCNN1B_ENST00000568923.1_Missense_Mutation_p.Q450E|SCNN1B_ENST00000568085.1_Missense_Mutation_p.Q441E|SCNN1B_ENST00000307331.5_Missense_Mutation_p.Q522E	p.Q477E	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN		GBM - Glioblastoma multiforme(48;0.0465)	11	1605	+			477					C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	Missense_Mutation	SNP	ENST00000343070.2	37	c.1429C>G	CCDS10609.1	.	.	.	.	.	.	.	.	.	.	C	11.17	1.560742	0.27827	.	.	ENSG00000168447	ENST00000343070;ENST00000307331	T;T	0.68025	-0.28;-0.3	4.78	-0.294	0.12831	.	0.955525	0.08670	N	0.911043	T	0.46425	0.1392	L	0.28274	0.84	0.23381	N	0.997792	B	0.06786	0.001	B	0.11329	0.006	T	0.27365	-1.0076	10	0.30854	T	0.27	-7.6649	2.031	0.03529	0.1622:0.3576:0.323:0.1572	.	477	P51168	SCNNB_HUMAN	E	477;522	ENSP00000345751:Q477E;ENSP00000302874:Q522E	ENSP00000302874:Q522E	Q	+	1	0	SCNN1B	23297552	0.703000	0.27826	0.980000	0.43619	0.973000	0.67179	0.314000	0.19432	0.074000	0.16767	0.511000	0.50034	CAG		0.592	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254495.2			11	57	0	0	0	1	0	11	57				
NKD1	85407	broad.mit.edu	37	16	50664171	50664171	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr16:50664171G>C	ENST00000268459.3	+	7	761	c.537G>C	c.(535-537)aaG>aaC	p.K179N		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	179	Interaction with DVL1, DVL2 and DVL3. {ECO:0000250}.				eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of convergent extension involved in axis elongation (GO:1901233)|positive regulation of non-canonical Wnt signaling pathway via JNK cascade (GO:1901231)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		CATCCAGCAAGATGCTGCGGG	0.602																																						ENST00000268459.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23						c.(535-537)aaG>aaC		naked cuticle homolog 1 (Drosophila)							83.0	72.0	76.0					16																	50664171		2198	4300	6498	SO:0001583	missense	85407				Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding	g.chr16:50664171G>C	AF358135	CCDS10743.1	16q12.1	2013-01-10			ENSG00000140807	ENSG00000140807		"""EF-hand domain containing"""	17045	protein-coding gene	gene with protein product		607851				11356022	Standard	NM_033119		Approved		uc002egg.2	Q969G9	OTTHUMG00000133169	ENST00000268459.3:c.537G>C	16.37:g.50664171G>C	ENSP00000268459:p.Lys179Asn						p.K179N	NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN		GBM - Glioblastoma multiforme(240;0.243)	7	761	+		all_cancers(37;0.229)	179			Interaction with DVL1, DVL2 and DVL3 (By similarity).		B2RC39|Q8WZ08	Missense_Mutation	SNP	ENST00000268459.3	37	c.537G>C	CCDS10743.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.319601	0.41096	.	.	ENSG00000140807	ENST00000268459	T	0.76060	-0.99	4.88	3.93	0.45458	.	0.000000	0.85682	D	0.000000	D	0.84092	0.5396	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83986	0.0335	10	0.87932	D	0	-29.9156	6.1378	0.20243	0.3342:0.0:0.6658:0.0	.	179	Q969G9	NKD1_HUMAN	N	179	ENSP00000268459:K179N	ENSP00000268459:K179N	K	+	3	2	NKD1	49221672	1.000000	0.71417	1.000000	0.80357	0.085000	0.17905	2.294000	0.43567	1.186000	0.42985	0.655000	0.94253	AAG		0.602	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256873.1			32	75	0	0	0	1	0	32	75				
CACNA2D1	781	broad.mit.edu	37	7	81624189	81624189	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr7:81624189C>T	ENST00000356253.5	-	21	2041	c.1786G>A	c.(1786-1788)Gat>Aat	p.D596N	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.D577N			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	596					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CTTACCTCATCTTGAGATTTA	0.274																																						ENST00000356860.3																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(1729-1731)Gat>Aat		calcium channel, voltage-dependent, alpha 2/delta subunit 1	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						69.0	68.0	68.0					7																	81624189		2202	4291	6493	SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81624189C>T	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.1786G>A	7.37:g.81624189C>T	ENSP00000348589:p.Asp596Asn					CACNA2D1_ENST00000356253.5_Missense_Mutation_p.D596N	p.D577N	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN			20	2067	-			596					Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.1729G>A		.	.	.	.	.	.	.	.	.	.	C	28.4	4.915401	0.92178	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253	D;D	0.82711	-1.64;-1.64	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.89469	0.6724	M	0.76328	2.33	0.80722	D	1	D	0.59357	0.985	P	0.58210	0.835	D	0.88642	0.3176	10	0.40728	T	0.16	-26.2919	19.2359	0.93858	0.0:1.0:0.0:0.0	.	577	P54289-2	.	N	577;596;596	ENSP00000349320:D577N;ENSP00000348589:D596N	ENSP00000284088:D596N	D	-	1	0	CACNA2D1	81462125	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.879000	0.75572	2.538000	0.85594	0.655000	0.94253	GAT		0.274	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				13	26	0	0	0	1	0	13	26				
ODC1	4953	broad.mit.edu	37	2	10583894	10583894	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:10583894G>A	ENST00000234111.4	-	6	1028	c.518C>T	c.(517-519)aCg>aTg	p.T173M	ODC1_ENST00000405333.1_Missense_Mutation_p.T173M|SNORA80B_ENST00000383906.1_RNA|ODC1_ENST00000446285.1_5'Flank	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1	173					cellular nitrogen compound metabolic process (GO:0034641)|kidney development (GO:0001822)|polyamine metabolic process (GO:0006595)|positive regulation of cell proliferation (GO:0008284)|putrescine biosynthetic process from ornithine (GO:0033387)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ornithine decarboxylase activity (GO:0004586)|protein homodimerization activity (GO:0042803)			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Spermine(DB00127)	GGTTCTGAGCGTGGCACCGAA	0.483																																						ENST00000234111.4																			0				NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19						c.(517-519)aCg>aTg		ornithine decarboxylase 1	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)						133.0	122.0	126.0					2																	10583894		2203	4300	6503	SO:0001583	missense	4953				polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding	g.chr2:10583894G>A		CCDS1672.1	2p25	2012-10-02			ENSG00000115758	ENSG00000115758	4.1.1.17		8109	protein-coding gene	gene with protein product		165640					Standard	NM_002539		Approved	ODC	uc002rao.1	P11926	OTTHUMG00000090450	ENST00000234111.4:c.518C>T	2.37:g.10583894G>A	ENSP00000234111:p.Thr173Met					ODC1_ENST00000405333.1_Missense_Mutation_p.T173M	p.T173M	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN		Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	6	1028	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		173					Q53TU3|Q6LDS9	Missense_Mutation	SNP	ENST00000234111.4	37	c.518C>T	CCDS1672.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.856972	0.71834	.	.	ENSG00000115758	ENST00000234111;ENST00000405333;ENST00000537630	T;T	0.45276	0.9;0.9	5.6	5.6	0.85130	Orn/DAP/Arg decarboxylase 2, N-terminal (1);	0.046866	0.85682	D	0.000000	T	0.62514	0.2434	M	0.74467	2.265	0.58432	D	0.999998	P	0.45957	0.869	P	0.55011	0.766	T	0.64736	-0.6337	10	0.72032	D	0.01	.	19.6296	0.95694	0.0:0.0:1.0:0.0	.	173	P11926	DCOR_HUMAN	M	173;173;44	ENSP00000234111:T173M;ENSP00000385333:T173M	ENSP00000234111:T173M	T	-	2	0	ODC1	10501345	1.000000	0.71417	1.000000	0.80357	0.691000	0.40173	6.563000	0.73964	2.644000	0.89710	0.655000	0.94253	ACG		0.483	ODC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206896.2			36	95	0	0	0	1	0	36	95				
VPS13A	23230	broad.mit.edu	37	9	79910685	79910685	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr9:79910685G>A	ENST00000360280.3	+	33	3995	c.3735G>A	c.(3733-3735)atG>atA	p.M1245I	VPS13A_ENST00000376636.3_Missense_Mutation_p.M1206I|VPS13A_ENST00000376634.4_Missense_Mutation_p.M1245I|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000357409.5_Missense_Mutation_p.M1245I	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1245					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CCTTTCATATGATAACAGAGA	0.383																																						ENST00000360280.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(3733-3735)atG>atA		vacuolar protein sorting 13 homolog A (S. cerevisiae)							90.0	89.0	89.0					9																	79910685		2203	4300	6503	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79910685G>A	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.3735G>A	9.37:g.79910685G>A	ENSP00000353422:p.Met1245Ile					VPS13A_ENST00000357409.5_Missense_Mutation_p.M1245I|VPS13A_ENST00000376636.3_Missense_Mutation_p.M1206I|VPS13A_ENST00000376634.4_Missense_Mutation_p.M1245I|VPS13A_ENST00000423463.2_3'UTR	p.M1245I	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN			33	3995	+			1245					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.3735G>A	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	G	0.618	-0.822278	0.02755	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.12039	2.72;2.72;2.72;2.72	5.15	-4.69	0.03299	.	1.113020	0.06520	N	0.739540	T	0.02688	0.0081	N	0.00583	-1.355	0.09310	N	0.999995	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.35251	-0.9796	10	0.35671	T	0.21	.	0.2044	0.00149	0.3349:0.1613:0.202:0.3017	.	1206;1245;1245;1245	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	I	1245;1206;1245;1245	ENSP00000365821:M1245I;ENSP00000365823:M1206I;ENSP00000353422:M1245I;ENSP00000349985:M1245I	ENSP00000349985:M1245I	M	+	3	0	VPS13A	79100505	0.001000	0.12720	0.052000	0.19188	0.164000	0.22412	0.047000	0.14056	-0.923000	0.03785	-0.253000	0.11424	ATG		0.383	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		18	50	0	0	0	1	0	18	50				
PPP1R10	5514	broad.mit.edu	37	6	30572460	30572460	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:30572460G>C	ENST00000376511.2	-	12	1559	c.1007C>G	c.(1006-1008)tCt>tGt	p.S336C		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	336	Interaction with TOX4. {ECO:0000250}.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TTCTGGGGAAGAAGGTTTGGC	0.527																																						ENST00000376511.2																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						c.(1006-1008)tCt>tGt		protein phosphatase 1, regulatory subunit 10							329.0	323.0	325.0					6																	30572460		1511	2709	4220	SO:0001583	missense	5514				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding	g.chr6:30572460G>C	Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9284	protein-coding gene	gene with protein product	"""phosphatase 1 nuclear targeting subunit"", ""HLA-C associated transcript 53"""	603771	"""protein phosphatase 1, regulatory (inhibitor) subunit 10"""			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.1007C>G	6.37:g.30572460G>C	ENSP00000365694:p.Ser336Cys						p.S336C	NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN			12	1559	-			336			Interaction with TOX4 (By similarity).		O00405	Missense_Mutation	SNP	ENST00000376511.2	37	c.1007C>G	CCDS4681.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.291883	0.59976	.	.	ENSG00000204569	ENST00000376511	T	0.56444	0.46	5.46	5.46	0.80206	.	0.237808	0.44483	D	0.000441	T	0.35508	0.0934	N	0.19112	0.55	0.58432	D	0.999998	P	0.44309	0.832	P	0.44647	0.456	T	0.41342	-0.9514	10	0.72032	D	0.01	-15.251	18.0852	0.89455	0.0:0.0:1.0:0.0	.	336	Q96QC0	PP1RA_HUMAN	C	336	ENSP00000365694:S336C	ENSP00000365694:S336C	S	-	2	0	PPP1R10	30680439	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.530000	0.73816	2.561000	0.86390	0.655000	0.94253	TCT		0.527	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076556.2	NM_002714		95	253	0	0	0	1	0	95	253				
DOPEY1	23033	broad.mit.edu	37	6	83850048	83850048	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:83850048C>T	ENST00000349129.2	+	23	5601	c.5341C>T	c.(5341-5343)Caa>Taa	p.Q1781*	DOPEY1_ENST00000369739.3_Nonsense_Mutation_p.Q1772*|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000237163.5_Nonsense_Mutation_p.Q1762*	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1781			Q -> L (in dbSNP:rs9444039).		protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		CATACTGCATCAAGCTGATTC	0.408																																						ENST00000349129.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67						c.(5341-5343)Caa>Taa		dopey family member 1							167.0	154.0	158.0					6																	83850048		2203	4300	6503	SO:0001587	stop_gained	23033				protein transport			g.chr6:83850048C>T	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.5341C>T	6.37:g.83850048C>T	ENSP00000195654:p.Gln1781*					DOPEY1_ENST00000369739.3_Nonsense_Mutation_p.Q1772*|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000237163.5_Nonsense_Mutation_p.Q1762*	p.Q1781*	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	23	5601	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	1781		Q -> L (in dbSNP:rs9444039).			Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Nonsense_Mutation	SNP	ENST00000349129.2	37	c.5341C>T	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	C	45	11.623324	0.99583	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	.	.	.	5.47	5.47	0.80525	.	0.053593	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	19.6797	0.95957	0.0:1.0:0.0:0.0	.	.	.	.	X	1781;1762;1762	.	ENSP00000237163:Q1762X	Q	+	1	0	DOPEY1	83906767	1.000000	0.71417	1.000000	0.80357	0.099000	0.18886	7.445000	0.80570	2.727000	0.93392	0.585000	0.79938	CAA		0.408	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		44	77	0	0	0	1	0	44	77				
KIAA0196	9897	broad.mit.edu	37	8	126071480	126071480	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr8:126071480C>G	ENST00000318410.7	-	14	2097	c.1748G>C	c.(1747-1749)aGa>aCa	p.R583T	KIAA0196_ENST00000517845.1_Missense_Mutation_p.R435T	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	583					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			GAAGGTAGCTCTGAGTTTAGT	0.393																																						ENST00000318410.7																			0				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42						c.(1747-1749)aGa>aCa		KIAA0196							140.0	131.0	134.0					8																	126071480		2203	4300	6503	SO:0001583	missense	9897				cell death	WASH complex		g.chr8:126071480C>G		CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"""strumpellin"""	610657	"""spastic paraplegia 8 (autosomal dominant)"""	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.1748G>C	8.37:g.126071480C>G	ENSP00000318016:p.Arg583Thr					KIAA0196_ENST00000517845.1_Missense_Mutation_p.R435T	p.R583T	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		14	2097	-	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		583					A8K4R7|Q3KQX5|Q8TBQ2	Missense_Mutation	SNP	ENST00000318410.7	37	c.1748G>C	CCDS6355.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.5|28.5	4.925254|4.925254	0.92319|0.92319	.|.	.|.	ENSG00000164961|ENSG00000164961	ENST00000523273|ENST00000318410;ENST00000517845	.|D;D	.|0.90004	.|-2.6;-2.6	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.95242|0.95242	0.8457|0.8457	M|M	0.85630|0.85630	2.765|2.765	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.985	.|D;D	.|0.72982	.|0.979;0.977	D|D	0.95226|0.95226	0.8338|0.8338	5|10	.|0.87932	.|D	.|0	-17.7013|-17.7013	20.1271|20.1271	0.97986|0.97986	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|435;583	.|E7EQI7;Q12768	.|.;STRUM_HUMAN	Q|T	200|583;435	.|ENSP00000318016:R583T;ENSP00000429676:R435T	.|ENSP00000318016:R583T	E|R	-|-	1|2	0|0	KIAA0196|KIAA0196	126140662|126140662	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	5.932000|5.932000	0.70121|0.70121	2.834000|2.834000	0.97654|0.97654	0.650000|0.650000	0.86243|0.86243	GAG|AGA		0.393	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381369.1	NM_014846		10	31	0	0	0	1	0	10	31				
GNRHR	2798	broad.mit.edu	37	4	68619908	68619908	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr4:68619908G>C	ENST00000226413.4	-	1	170	c.146C>G	c.(145-147)tCt>tGt	p.S49C	UBA6-AS1_ENST00000500538.2_RNA|UBA6-AS1_ENST00000502758.1_RNA|GNRHR_ENST00000420975.2_Missense_Mutation_p.S49C	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	49					cellular response to gonadotropin-releasing hormone (GO:0097211)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gonadotropin-releasing hormone receptor activity (GO:0004968)			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Buserelin(DB06719)|Cetrorelix(DB00050)|Danazol(DB01406)|Degarelix(DB06699)|Gonadorelin(DB00644)|Goserelin(DB00014)|Leuprolide(DB00007)|Nafarelin(DB00666)	AAAGGTCGCAGAGAGCAGAAA	0.448																																						ENST00000226413.4																			0				endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13						c.(145-147)tCt>tGt		gonadotropin-releasing hormone receptor	Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)						81.0	87.0	85.0					4																	68619908		2203	4300	6503	SO:0001583	missense	2798				multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity	g.chr4:68619908G>C		CCDS3517.1, CCDS47064.1	4q21.2	2012-08-08			ENSG00000109163	ENSG00000109163		"""GPCR / Class A : Gonadotropin-releasing hormone receptors"""	4421	protein-coding gene	gene with protein product		138850		GRHR		8386108	Standard	NM_000406		Approved	LHRHR	uc003hdn.3	P30968	OTTHUMG00000129302	ENST00000226413.4:c.146C>G	4.37:g.68619908G>C	ENSP00000226413:p.Ser49Cys					GNRHR_ENST00000420975.2_Missense_Mutation_p.S49C|RP11-453E17.1_ENST00000502758.1_RNA|RP11-453E17.1_ENST00000500538.2_RNA	p.S49C	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN			1	170	-			49					O75793|Q14D13|Q92644	Missense_Mutation	SNP	ENST00000226413.4	37	c.146C>G	CCDS3517.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.229639	0.39399	.	.	ENSG00000109163	ENST00000226413;ENST00000420975	T;T	0.40225	1.04;1.04	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000004	T	0.57725	0.2073	L	0.36672	1.1	0.44985	D	0.998001	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.56517	-0.7966	10	0.87932	D	0	-28.4757	18.3732	0.90420	0.0:0.0:1.0:0.0	.	49;49	P30968;P30968-2	GNRHR_HUMAN;.	C	49	ENSP00000226413:S49C;ENSP00000397561:S49C	ENSP00000226413:S49C	S	-	2	0	GNRHR	68302503	1.000000	0.71417	0.984000	0.44739	0.113000	0.19764	8.877000	0.92386	2.941000	0.99782	0.655000	0.94253	TCT		0.448	GNRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251432.2			27	103	0	0	0	1	0	27	103				
ERMP1	79956	broad.mit.edu	37	9	5797843	5797843	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr9:5797843G>T	ENST00000339450.5	-	13	2449	c.2360C>A	c.(2359-2361)tCt>tAt	p.S787Y	ERMP1_ENST00000381506.3_3'UTR|ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000543230.1_Missense_Mutation_p.S365Y	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	787						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		CAATTTTATAGAATCCCAAGG	0.353																																						ENST00000339450.5																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20						c.(2359-2361)tCt>tAt		endoplasmic reticulum metallopeptidase 1							113.0	127.0	122.0					9																	5797843		2203	4300	6503	SO:0001583	missense	79956				proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity	g.chr9:5797843G>T	AB058718	CCDS34983.1	9p24	2008-02-05	2007-07-05	2007-07-05	ENSG00000099219	ENSG00000099219			23703	protein-coding gene	gene with protein product	"""Felix-ina"""	611156	"""KIAA1815"""	KIAA1815		11347906	Standard	XM_005251587		Approved	FLJ23309, FXNA	uc003zjm.1	Q7Z2K6	OTTHUMG00000019508	ENST00000339450.5:c.2360C>A	9.37:g.5797843G>T	ENSP00000340427:p.Ser787Tyr					ERMP1_ENST00000543230.1_Missense_Mutation_p.S365Y|ERMP1_ENST00000381506.3_3'UTR|ERMP1_ENST00000214893.5_5'UTR	p.S787Y	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)	13	2449	-		Acute lymphoblastic leukemia(23;0.158)	787					B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Missense_Mutation	SNP	ENST00000339450.5	37	c.2360C>A	CCDS34983.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.645813	0.67358	.	.	ENSG00000099219	ENST00000339450;ENST00000543230	T	0.47869	0.83	5.77	5.77	0.91146	.	0.047235	0.85682	D	0.000000	T	0.46870	0.1415	L	0.39898	1.24	0.80722	D	1	D	0.53312	0.959	B	0.43680	0.427	T	0.49679	-0.8914	10	0.66056	D	0.02	-23.6229	19.5877	0.95496	0.0:0.0:1.0:0.0	.	787	Q7Z2K6	ERMP1_HUMAN	Y	787;365	ENSP00000340427:S787Y	ENSP00000340427:S787Y	S	-	2	0	ERMP1	5787843	1.000000	0.71417	0.967000	0.41034	0.650000	0.38633	9.083000	0.94067	2.729000	0.93468	0.467000	0.42956	TCT		0.353	ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354877.1	NM_024896		36	123	1	0	1.30015e-28	1	1.42762e-28	36	123				
ZNF16	7564	broad.mit.edu	37	8	146156489	146156489	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr8:146156489G>C	ENST00000276816.4	-	4	1870	c.1684C>G	c.(1684-1686)Cag>Gag	p.Q562E	ZNF16_ENST00000394909.2_Missense_Mutation_p.Q562E	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	562					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to sodium dodecyl sulfate (GO:0072707)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell cycle phase transition (GO:1901989)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of kinase activity (GO:0033674)|positive regulation of megakaryocyte differentiation (GO:0045654)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		CTCTGATGCTGAATGAGGGTT	0.478																																						ENST00000276816.4																			0				breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(1684-1686)Cag>Gag		zinc finger protein 16							77.0	76.0	76.0					8																	146156489		2203	4300	6503	SO:0001583	missense	7564				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146156489G>C	X52340	CCDS6437.1	8q24	2013-01-08	2006-05-10		ENSG00000170631	ENSG00000170631		"""Zinc fingers, C2H2-type"""	12947	protein-coding gene	gene with protein product		601262	"""zinc finger protein 16 (KOX 9)"""				Standard	NM_006958		Approved	KOX9	uc003zeu.3	P17020	OTTHUMG00000165253	ENST00000276816.4:c.1684C>G	8.37:g.146156489G>C	ENSP00000276816:p.Gln562Glu					ZNF16_ENST00000394909.2_Missense_Mutation_p.Q562E	p.Q562E	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)	4	1870	-	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	562					B3KXM4|D3DWP2|Q45SH7|Q96FG0|Q9NRA4	Missense_Mutation	SNP	ENST00000276816.4	37	c.1684C>G	CCDS6437.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.703182	0.30232	.	.	ENSG00000170631	ENST00000276816;ENST00000394909	T;T	0.16324	2.35;2.35	4.0	4.0	0.46444	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11367	0.0277	N	0.20328	0.56	0.09310	N	1	D	0.54207	0.965	P	0.47251	0.542	T	0.02444	-1.1158	9	0.05351	T	0.99	.	9.117	0.36764	0.0:0.0:0.6519:0.3481	.	562	P17020	ZNF16_HUMAN	E	562	ENSP00000276816:Q562E;ENSP00000378369:Q562E	ENSP00000276816:Q562E	Q	-	1	0	ZNF16	146127293	0.000000	0.05858	1.000000	0.80357	0.962000	0.63368	-0.313000	0.08103	2.058000	0.61347	0.462000	0.41574	CAG		0.478	ZNF16-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382978.1	NM_006958		18	62	0	0	0	1	0	18	62				
MRPS23	51649	broad.mit.edu	37	17	55926767	55926767	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:55926767G>A	ENST00000313608.8	-	2	94	c.49C>T	c.(49-51)Cgg>Tgg	p.R17W	MRPS23_ENST00000578444.1_Missense_Mutation_p.R17W	NM_016070.3	NP_057154.2	Q9Y3D9	RT23_HUMAN	mitochondrial ribosomal protein S23	17					translation (GO:0006412)	intermediate filament cytoskeleton (GO:0045111)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|large_intestine(1)|lung(2)	5	Breast(9;8.75e-08)					ACCAGGTCCCGAGTCCTTAGG	0.562																																						ENST00000313608.8																			0				endometrium(2)|large_intestine(1)|lung(2)	5						c.(49-51)Cgg>Tgg		mitochondrial ribosomal protein S23							44.0	40.0	42.0					17																	55926767		2203	4300	6503	SO:0001583	missense	51649				translation	intermediate filament cytoskeleton|mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome	g.chr17:55926767G>A	AB061206	CCDS11598.1	17q22-q23	2012-09-13				ENSG00000181610		"""Mitochondrial ribosomal proteins / small subunits"""	14509	protein-coding gene	gene with protein product		611985				11279123	Standard	NM_016070		Approved	MRP-S23, CGI-138, HSPC329	uc002ivc.3	Q9Y3D9		ENST00000313608.8:c.49C>T	17.37:g.55926767G>A	ENSP00000320184:p.Arg17Trp					MRPS23_ENST00000578444.1_Missense_Mutation_p.R17W	p.R17W	NM_016070.3	NP_057154.2	Q9Y3D9	RT23_HUMAN			2	94	-	Breast(9;8.75e-08)		17					B2R6V3|Q96Q24|Q9BWH8|Q9P053	Missense_Mutation	SNP	ENST00000313608.8	37	c.49C>T	CCDS11598.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.238048	0.58886	.	.	ENSG00000181610	ENST00000313608	.	.	.	5.86	3.77	0.43336	Ribosomal protein S23/S25, mitochondrial (1);	0.000000	0.85682	D	0.000000	T	0.79143	0.4396	M	0.82323	2.585	0.51482	D	0.999921	D	0.89917	1.0	D	0.97110	1.0	T	0.80986	-0.1137	9	0.87932	D	0	.	12.2743	0.54726	0.0:0.0:0.681:0.319	.	17	Q9Y3D9	RT23_HUMAN	W	17	.	ENSP00000320184:R17W	R	-	1	2	MRPS23	53281766	0.999000	0.42202	0.542000	0.28115	0.110000	0.19582	3.420000	0.52735	0.718000	0.32166	0.655000	0.94253	CGG		0.562	MRPS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443301.1	NM_016070		17	53	0	0	0	1	0	17	53				
SLC17A8	246213	broad.mit.edu	37	12	100811824	100811824	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr12:100811824C>A	ENST00000323346.5	+	11	1628	c.1315C>A	c.(1315-1317)Ctg>Atg	p.L439M	SLC17A8_ENST00000552697.1_3'UTR|SLC17A8_ENST00000392989.3_Missense_Mutation_p.L389M	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	439					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TGTCAACCACCTGGACATTGC	0.473																																						ENST00000323346.5																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1315-1317)Ctg>Atg		solute carrier family 17 (vesicular glutamate transporter), member 8							174.0	160.0	165.0					12																	100811824		2203	4300	6503	SO:0001583	missense	246213				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr12:100811824C>A	AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"""Solute carriers"""	20151	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 3"""	607557	"""deafness, autosomal dominant 25"", ""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"""	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.1315C>A	12.37:g.100811824C>A	ENSP00000316909:p.Leu439Met					SLC17A8_ENST00000392989.3_Missense_Mutation_p.L389M|SLC17A8_ENST00000552697.1_3'UTR	p.L439M	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN			11	1628	+			439					B3KXZ6|B7ZKV4|Q17RQ8	Missense_Mutation	SNP	ENST00000323346.5	37	c.1315C>A	CCDS9077.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.142103	0.57044	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	T;T	0.69306	-0.39;-0.39	5.55	3.59	0.41128	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.79191	0.4404	M	0.76938	2.355	0.54753	D	0.999984	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	T	0.80216	-0.1474	10	0.66056	D	0.02	.	9.264	0.37630	0.0:0.665:0.0:0.335	.	439;389	Q8NDX2;Q8NDX2-2	VGLU3_HUMAN;.	M	439;389	ENSP00000316909:L439M;ENSP00000376715:L389M	ENSP00000316909:L439M	L	+	1	2	SLC17A8	99335955	0.989000	0.36119	1.000000	0.80357	0.991000	0.79684	0.774000	0.26675	1.372000	0.46190	0.655000	0.94253	CTG		0.473	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	NM_139319		24	67	1	0	4.26978e-12	1	4.51146e-12	24	67				
METTL2B	55798	broad.mit.edu	37	7	128119444	128119444	+	Silent	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr7:128119444G>A	ENST00000262432.8	+	3	472	c.435G>A	c.(433-435)tcG>tcA	p.S145S	METTL2B_ENST00000480046.1_Silent_p.S80S|RP11-212P7.3_ENST00000462662.1_RNA	NM_018396.2	NP_060866.2	Q6P1Q9	MET2B_HUMAN	methyltransferase like 2B	145					tRNA methylation (GO:0030488)		tRNA (cytosine) methyltransferase activity (GO:0016427)			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						AGTGTTCTTCGAAGAGCCTTG	0.408																																						ENST00000480046.1																			0				breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(238-240)tcG>tcA		methyltransferase like 2B							157.0	169.0	165.0					7																	128119444		2203	4300	6503	SO:0001819	synonymous_variant	55798						methyltransferase activity	g.chr7:128119444G>A	AK002212	CCDS5803.2	7q32.2	2012-06-12	2006-02-09	2006-02-09	ENSG00000165055	ENSG00000165055			18272	protein-coding gene	gene with protein product		607846	"""methyltransferase like 2"""	METTL2		11738826	Standard	NM_018396		Approved	METL, FLJ11350	uc003vnf.3	Q6P1Q9	OTTHUMG00000143738	ENST00000262432.8:c.435G>A	7.37:g.128119444G>A						METTL2B_ENST00000262432.8_Silent_p.S145S	p.S80S			Q6P1Q9	MTL2B_HUMAN			2	355	+			145					B4DZ68|Q0IJ54|Q3B7J1	Silent	SNP	ENST00000262432.8	37	c.240G>A	CCDS5803.2																																																																																				0.408	METTL2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289817.1	NM_018396		14	115	0	0	0	1	0	14	115				
HEPH	9843	broad.mit.edu	37	X	65486346	65486346	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:65486346G>C	ENST00000343002.2	+	20	3973	c.3309G>C	c.(3307-3309)aaG>aaC	p.K1103N	HEPH_ENST00000441993.2_Missense_Mutation_p.K1105N|HEPH_ENST00000419594.1_Missense_Mutation_p.K914N|HEPH_ENST00000519389.1_Missense_Mutation_p.K1157N|HEPH_ENST00000374727.3_Missense_Mutation_p.K1106N|HEPH_ENST00000336279.5_Missense_Mutation_p.K836N			Q9BQS7	HEPH_HUMAN	hephaestin	1103					cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)	p.K1103N(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TCCCCATAAAGAATGTTGAGA	0.483																																						ENST00000519389.1																			1	Substitution - Missense(1)	p.K1103N(1)	large_intestine(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(3469-3471)aaG>aaC		hephaestin							307.0	207.0	241.0					X																	65486346		2203	4300	6503	SO:0001583	missense	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65486346G>C	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.3309G>C	X.37:g.65486346G>C	ENSP00000343939:p.Lys1103Asn					HEPH_ENST00000336279.5_Missense_Mutation_p.K836N|HEPH_ENST00000343002.2_Missense_Mutation_p.K1103N|HEPH_ENST00000419594.1_Missense_Mutation_p.K914N|HEPH_ENST00000441993.2_Missense_Mutation_p.K1105N|HEPH_ENST00000374727.3_Missense_Mutation_p.K1106N	p.K1157N			Q9BQS7	HEPH_HUMAN			21	3650	+			1103					B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37	c.3471G>C		.	.	.	.	.	.	.	.	.	.	.	16.55	3.153566	0.57259	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000419594;ENST00000343002	D;D;D;D;D;D	0.99298	-5.71;-5.7;-5.7;-5.66;-5.71;-5.7	5.11	2.34	0.29019	.	0.364044	0.23474	N	0.047797	D	0.97210	0.9088	L	0.29908	0.895	0.09310	N	1	B;D;B	0.56035	0.201;0.974;0.18	B;P;B	0.49752	0.055;0.621;0.056	D	0.93950	0.7231	10	0.13470	T	0.59	.	7.8552	0.29478	0.2813:0.0:0.7187:0.0	.	1157;914;1103	E9PHN8;E7ES21;Q9BQS7	.;.;HEPH_HUMAN	N	1157;1106;836;1105;914;1103	ENSP00000430620:K1157N;ENSP00000363859:K1106N;ENSP00000337418:K836N;ENSP00000411687:K1105N;ENSP00000413211:K914N;ENSP00000343939:K1103N	ENSP00000337418:K836N	K	+	3	2	HEPH	65403071	0.033000	0.19621	0.051000	0.19133	0.982000	0.71751	1.140000	0.31516	0.557000	0.29117	0.600000	0.82982	AAG		0.483	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		28	48	0	0	0	1	0	28	48				
AWAT1	158833	broad.mit.edu	37	X	69459589	69459589	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:69459589C>T	ENST00000374521.3	+	6	678	c.637C>T	c.(637-639)Cat>Tat	p.H213Y		NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	213					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						CTACAGGGCTCATCTGGTCCC	0.473																																						ENST00000374521.3																			0				breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						c.(637-639)Cat>Tat		acyl-CoA wax alcohol acyltransferase 1							106.0	101.0	102.0					X																	69459589		2203	4300	6503	SO:0001583	missense	158833				lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity	g.chrX:69459589C>T	BC039181	CCDS35321.1	Xq13.1	2010-01-25	2009-02-23	2009-02-23	ENSG00000204195	ENSG00000204195			23252	protein-coding gene	gene with protein product		300924	"""diacylglycerol O-acyltransferase 2-like 3"""	DGAT2L3		14970677, 15671038	Standard	NM_001013579		Approved		uc004dxy.3	Q58HT5	OTTHUMG00000021773	ENST00000374521.3:c.637C>T	X.37:g.69459589C>T	ENSP00000363645:p.His213Tyr						p.H213Y	NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN			6	678	+			213					Q5JT21|Q6IEE4	Missense_Mutation	SNP	ENST00000374521.3	37	c.637C>T	CCDS35321.1	.	.	.	.	.	.	.	.	.	.	C	0.371	-0.934185	0.02340	.	.	ENSG00000204195	ENST00000374521	T	0.13657	2.57	5.39	1.73	0.24493	.	0.451832	0.22437	N	0.060064	T	0.06735	0.0172	L	0.31476	0.935	0.27564	N	0.950107	B	0.06786	0.001	B	0.09377	0.004	T	0.43572	-0.9383	10	0.02654	T	1	-3.6006	4.8501	0.13533	0.0:0.4123:0.1504:0.4374	.	213	Q58HT5	AWAT1_HUMAN	Y	213	ENSP00000363645:H213Y	ENSP00000363645:H213Y	H	+	1	0	AWAT1	69376314	0.156000	0.22821	0.958000	0.39756	0.979000	0.70002	-0.073000	0.11468	0.015000	0.14971	-0.268000	0.10319	CAT		0.473	AWAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057066.3	NM_001013579		34	83	0	0	0	1	0	34	83				
ZNF449	203523	broad.mit.edu	37	X	134494649	134494649	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:134494649C>G	ENST00000339249.4	+	5	1345	c.1205C>G	c.(1204-1206)tCt>tGt	p.S402C		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	402					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AGAACCCATTCTGAAGAAGAA	0.408																																						ENST00000339249.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23						c.(1204-1206)tCt>tGt		zinc finger protein 449							86.0	89.0	88.0					X																	134494649		2203	4299	6502	SO:0001583	missense	203523				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:134494649C>G	AY280801	CCDS14649.1	Xq26.3	2013-01-09			ENSG00000173275	ENSG00000173275		"""-"", ""Zinc fingers, C2H2-type"""	21039	protein-coding gene	gene with protein product		300627					Standard	NM_152695		Approved	ZSCAN19, FLJ23614	uc004eys.3	Q6P9G9	OTTHUMG00000022478	ENST00000339249.4:c.1205C>G	X.37:g.134494649C>G	ENSP00000339585:p.Ser402Cys						p.S402C	NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN			5	1345	+	Acute lymphoblastic leukemia(192;6.56e-05)		402					Q5JRZ7|Q5JRZ8|Q6NZX2|Q8N3Q1|Q8TED7	Missense_Mutation	SNP	ENST00000339249.4	37	c.1205C>G	CCDS14649.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.140248	0.56936	.	.	ENSG00000173275	ENST00000339249	T	0.08282	3.11	4.39	4.39	0.52855	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44688	D	0.000436	T	0.18551	0.0445	M	0.83483	2.645	0.80722	D	1	D	0.64830	0.994	P	0.46975	0.533	T	0.04495	-1.0947	10	0.72032	D	0.01	.	13.6946	0.62569	0.0:1.0:0.0:0.0	.	402	Q6P9G9	ZN449_HUMAN	C	402	ENSP00000339585:S402C	ENSP00000339585:S402C	S	+	2	0	ZNF449	134322315	1.000000	0.71417	0.996000	0.52242	0.975000	0.68041	4.686000	0.61700	2.190000	0.69967	0.529000	0.55759	TCT		0.408	ZNF449-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058411.1	NM_152695		39	130	0	0	0	1	0	39	130				
CXorf40A	91966	broad.mit.edu	37	X	148627327	148627327	+	Missense_Mutation	SNP	G	G	A	rs370085115		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:148627327G>A	ENST00000441248.1	+	3	1738	c.151G>A	c.(151-153)Gat>Aat	p.D51N	CXorf40A_ENST00000423421.1_Missense_Mutation_p.D51N|CXorf40A_ENST00000450602.2_Missense_Mutation_p.D51N|CXorf40A_ENST00000514208.1_Missense_Mutation_p.D51N|CXorf40A_ENST00000428236.1_De_novo_Start_OutOfFrame|CXorf40A_ENST00000422892.2_Missense_Mutation_p.D51N|CXorf40A_ENST00000434353.2_Missense_Mutation_p.D51N|RP5-937E21.8_ENST00000431993.1_RNA|CXorf40A_ENST00000359293.5_Missense_Mutation_p.D51N|CXorf40A_ENST00000423540.2_Missense_Mutation_p.D51N|CXorf40A_ENST00000393985.3_Missense_Mutation_p.D51N			Q8TE69	CX04A_HUMAN	chromosome X open reading frame 40A	51										breast(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CTGGGAAGGCGATGCCTGGCG	0.582																																						ENST00000428236.1																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(2)	7								chromosome X open reading frame 40A		G	ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP	0,3835		0,0,1632,571	88.0	61.0	70.0		151,151,151,151	-1.1	0.0	X		70	1,6725		0,1,2426,1872	no	missense,missense,missense,missense	CXorf40A	NM_001171907.1,NM_001171908.1,NM_001171909.1,NM_178124.4	23,23,23,23	0,1,4058,2443	AA,AG,GG,G		0.0149,0.0,0.0095	benign,benign,benign,benign	51/159,51/159,51/147,51/159	148627327	1,10560	2203	4299	6502	SO:0001583	missense	91966						protein binding	g.chrX:148627327G>A	AF011889	CCDS14687.1, CCDS55522.1	Xq28	2010-03-16	2005-09-13	2005-09-13	ENSG00000197620	ENSG00000197620			28089	protein-coding gene	gene with protein product	"""endothelial-overexpressed lipopolysaccharide-associated factor 1"""		"""chromosome X open reading frame 40"""	CXorf40		8717057, 9147653, 16383041	Standard	XM_005278212		Approved	EOLA1	uc004fdg.3	Q8TE69	OTTHUMG00000022622	ENST00000441248.1:c.151G>A	X.37:g.148627327G>A	ENSP00000423099:p.Asp51Asn					CXorf40A_ENST00000423421.1_Missense_Mutation_p.D51N|CXorf40A_ENST00000422892.2_Missense_Mutation_p.D51N|CXorf40A_ENST00000423540.2_Missense_Mutation_p.D51N|CXorf40A_ENST00000434353.2_Missense_Mutation_p.D51N|CXorf40A_ENST00000514208.1_Missense_Mutation_p.D51N|CXorf40A_ENST00000450602.2_Missense_Mutation_p.D51N|CXorf40A_ENST00000441248.1_Missense_Mutation_p.D51N|CXorf40A_ENST00000359293.5_Missense_Mutation_p.D51N|CXorf40A_ENST00000393985.3_Missense_Mutation_p.D51N				Q8TE69	CX04A_HUMAN			0	214	+	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)							A8K784|B7Z6H6|B7ZL96|D6RA72|E7ENU3|Q2M3E9	Translation_Start_Site	SNP	ENST00000441248.1	37		CCDS14687.1	.	.	.	.	.	.	.	.	.	.	G	2.633	-0.285973	0.05605	0.0	1.49E-4	ENSG00000197620	ENST00000450602;ENST00000441248;ENST00000393985;ENST00000423421;ENST00000423540;ENST00000434353;ENST00000514208;ENST00000422892;ENST00000359293	D;D;D;D;D;D;D;D;D	0.92348	-3.02;-3.02;-3.02;-3.02;-3.02;-3.02;-3.02;-3.02;-3.02	3.93	-1.14	0.09741	PUA-like domain (1);	0.857727	0.10375	N	0.682301	D	0.85208	0.5644	L	0.43152	1.355	0.09310	N	1	B;B;B	0.10296	0.003;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.67875	-0.5557	10	0.23302	T	0.38	.	5.273	0.15634	0.4528:0.1413:0.4059:0.0	.	51;51;51	Q8TE69;E7ENU3;D6RA72	CX04A_HUMAN;.;.	N	51	ENSP00000427540:D51N;ENSP00000423099:D51N;ENSP00000421745:D51N;ENSP00000422512:D51N;ENSP00000425520:D51N;ENSP00000423160:D51N;ENSP00000423708:D51N;ENSP00000422312:D51N;ENSP00000420882:D51N	ENSP00000420882:D51N	D	+	1	0	CXorf40A	148435232	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.024000	0.13555	-0.594000	0.05836	0.455000	0.32223	GAT		0.582	CXorf40A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058699.3	NM_178124		33	84	0	0	0	1	0	33	84				
OR2D3	120775	broad.mit.edu	37	11	6943159	6943159	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:6943159G>C	ENST00000317834.3	+	1	955	c.927G>C	c.(925-927)agG>agC	p.R309S		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	309						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ATAGCTTGAGGAACAAAGATG	0.423																																						ENST00000317834.3																			0				breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27						c.(925-927)agG>agC		olfactory receptor, family 2, subfamily D, member 3							72.0	75.0	74.0					11																	6943159		2201	4296	6497	SO:0001583	missense	120775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6943159G>C	BK004294	CCDS31417.1	11p15.4	2012-08-09			ENSG00000178358	ENSG00000178358		"""GPCR / Class A : Olfactory receptors"""	15146	protein-coding gene	gene with protein product							Standard	NM_001004684		Approved		uc010rav.2	Q8NGH3	OTTHUMG00000165742	ENST00000317834.3:c.927G>C	11.37:g.6943159G>C	ENSP00000320560:p.Arg309Ser						p.R309S	NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	955	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	309					B2RP06|Q6IFG8|Q96R51	Missense_Mutation	SNP	ENST00000317834.3	37	c.927G>C	CCDS31417.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.798342	0.31777	.	.	ENSG00000178358	ENST00000317834	T	0.39592	1.07	5.17	-0.623	0.11556	.	0.275476	0.25948	N	0.027280	T	0.73885	0.3644	H	0.98701	4.305	0.22305	N	0.999218	P	0.46064	0.872	D	0.68353	0.957	T	0.65994	-0.6033	10	0.87932	D	0	-41.3536	9.3861	0.38345	0.5413:0.0:0.4587:0.0	.	309	Q8NGH3	OR2D3_HUMAN	S	309	ENSP00000320560:R309S	ENSP00000320560:R309S	R	+	3	2	OR2D3	6899735	0.018000	0.18449	0.942000	0.38095	0.328000	0.28507	-0.588000	0.05774	-0.169000	0.10834	-0.140000	0.14226	AGG		0.423	OR2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385987.1	NM_001004684		22	74	0	0	0	1	0	22	74				
KIAA1462	57608	broad.mit.edu	37	10	30318246	30318246	+	Silent	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr10:30318246C>T	ENST00000375377.1	-	3	932	c.831G>A	c.(829-831)aaG>aaA	p.K277K		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	277	Pro-rich.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						AGCAGCCACTCTTCTCAGAAT	0.537																																						ENST00000375377.1																			0				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						c.(829-831)aaG>aaA		KIAA1462							73.0	75.0	74.0					10																	30318246		1926	4130	6056	SO:0001819	synonymous_variant	57608							g.chr10:30318246C>T	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.831G>A	10.37:g.30318246C>T							p.K277K	NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN			3	932	-			277			Pro-rich.		Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Silent	SNP	ENST00000375377.1	37	c.831G>A	CCDS41500.1																																																																																				0.537	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		22	87	0	0	0	1	0	22	87				
NRXN1	9378	broad.mit.edu	37	2	50318532	50318532	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:50318532C>T	ENST00000406316.2	-	19	5123	c.3647G>A	c.(3646-3648)cGt>cAt	p.R1216H	NRXN1_ENST00000401710.1_Missense_Mutation_p.R234H|NRXN1_ENST00000404971.1_Missense_Mutation_p.R1256H|NRXN1_ENST00000401669.2_Missense_Mutation_p.R1216H|NRXN1_ENST00000406859.3_Missense_Mutation_p.R1216H|NRXN1_ENST00000402717.3_Missense_Mutation_p.R1208H|NRXN1_ENST00000342183.5_Missense_Mutation_p.R181H|NRXN1_ENST00000405472.3_Missense_Mutation_p.R1208H	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1216	Laminin G-like 6. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.R1257H(1)|p.R181H(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CCTCGTGAAACGAACTACATG	0.473																																						ENST00000404971.1																			2	Substitution - Missense(2)	p.R1257H(1)|p.R181H(1)	large_intestine(2)	breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(3766-3768)cGt>cAt		neurexin 1							239.0	208.0	218.0					2																	50318532		2203	4300	6503	SO:0001583	missense	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:50318532C>T	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.3647G>A	2.37:g.50318532C>T	ENSP00000384311:p.Arg1216His					NRXN1_ENST00000342183.5_Missense_Mutation_p.R181H|NRXN1_ENST00000402717.3_Missense_Mutation_p.R1208H|NRXN1_ENST00000406316.2_Missense_Mutation_p.R1216H|NRXN1_ENST00000405472.3_Missense_Mutation_p.R1208H|NRXN1_ENST00000401710.1_Missense_Mutation_p.R234H|NRXN1_ENST00000401669.2_Missense_Mutation_p.R1216H|NRXN1_ENST00000406859.3_Missense_Mutation_p.R1216H	p.R1256H	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		20	5106	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	1216			Laminin G-like 6.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.3767G>A	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.255044	0.59321	.	.	ENSG00000179915	ENST00000342183;ENST00000536347;ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18;-1.18;-1.18;-1.18;-1.18	5.54	5.54	0.83059	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.121992	0.29106	U	0.013137	T	0.78842	0.4347	M	0.85099	2.735	0.37738	D	0.925539	B;P;B;B	0.42039	0.326;0.769;0.081;0.011	B;B;B;B	0.30105	0.027;0.111;0.026;0.007	D	0.85236	0.1035	10	0.62326	D	0.03	.	19.4609	0.94916	0.0:1.0:0.0:0.0	.	1256;181;1216;1208	Q9ULB1-3;P58400;F8WB18;A7E294	.;NRX1B_HUMAN;.;.	H	181;135;234;1256;1216;1208;1216;1257;1208;1216	ENSP00000341184:R181H;ENSP00000385580:R234H;ENSP00000385142:R1256H;ENSP00000384311:R1216H;ENSP00000434015:R1208H;ENSP00000385017:R1216H;ENSP00000385434:R1208H;ENSP00000385681:R1216H	ENSP00000341184:R181H	R	-	2	0	NRXN1	50172036	1.000000	0.71417	0.992000	0.48379	0.994000	0.84299	3.140000	0.50585	2.600000	0.87896	0.563000	0.77884	CGT		0.473	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			42	140	0	0	0	1	0	42	140				
UPF2	26019	broad.mit.edu	37	10	12006125	12006125	+	Splice_Site	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr10:12006125C>T	ENST00000356352.2	-	10	2541		c.e10-1		UPF2_ENST00000397053.2_Splice_Site|UPF2_ENST00000357604.5_Splice_Site			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)						gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				ACAGAAGCATCTGCAACAGGA	0.403																																						ENST00000356352.2																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56						c.e10-1		UPF2 regulator of nonsense transcripts homolog (yeast)							82.0	83.0	82.0					10																	12006125		2203	4300	6503	SO:0001630	splice_region_variant	26019				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding	g.chr10:12006125C>T	AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.2068-1G>A	10.37:g.12006125C>T						UPF2_ENST00000357604.5_Splice_Site|UPF2_ENST00000397053.2_Splice_Site				Q9HAU5	RENT2_HUMAN			10	2541	-		Renal(717;0.228)						A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Splice_Site	SNP	ENST00000356352.2	37		CCDS7086.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.034315	0.75617	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000397053	.	.	.	4.79	3.88	0.44766	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9411	0.58345	0.0:0.9214:0.0:0.0786	.	.	.	.	.	-1	.	.	.	-	.	.	UPF2	12046131	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.018000	0.76406	1.226000	0.43582	0.650000	0.86243	.		0.403	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1		Intron	26	85	0	0	0	1	0	26	85				
CACNA1G	8913	broad.mit.edu	37	17	48649309	48649309	+	Silent	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:48649309C>T	ENST00000359106.5	+	5	657	c.657C>T	c.(655-657)ttC>ttT	p.F219F	CACNA1G_ENST00000515411.1_Silent_p.F219F|CACNA1G_ENST00000512389.1_Silent_p.F219F|CACNA1G_ENST00000416767.4_Silent_p.F219F|CACNA1G_ENST00000514717.1_Silent_p.F219F|CACNA1G_ENST00000507609.1_Silent_p.F219F|CACNA1G_ENST00000513689.2_Silent_p.F219F|CACNA1G_ENST00000507336.1_Silent_p.F219F|CACNA1G_ENST00000502264.1_Silent_p.F219F|CACNA1G_ENST00000510115.1_Silent_p.F219F|CACNA1G_ENST00000507896.1_Silent_p.F219F|CACNA1G_ENST00000514079.1_Silent_p.F219F|CACNA1G_ENST00000442258.2_Silent_p.F219F|CACNA1G_ENST00000352832.5_Silent_p.F219F|CACNA1G_ENST00000507510.2_Silent_p.F219F|CACNA1G_ENST00000429973.2_Silent_p.F219F|CACNA1G_ENST00000515765.1_Silent_p.F219F|CACNA1G_ENST00000513964.1_Silent_p.F219F|CACNA1G_ENST00000515165.1_Silent_p.F219F|CACNA1G_ENST00000510366.1_Silent_p.F219F|CACNA1G_ENST00000503485.1_Silent_p.F219F|CACNA1G_ENST00000354983.4_Silent_p.F219F|CACNA1G_ENST00000358244.5_Silent_p.F219F|CACNA1G_ENST00000360761.4_Silent_p.F219F|CACNA1G_ENST00000505165.1_Silent_p.F219F|CACNA1G_ENST00000514181.1_Silent_p.F219F	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	219					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGCTCTGCTTCTTCGTCTTCT	0.602																																						ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(655-657)ttC>ttT		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						110.0	112.0	111.0					17																	48649309		2166	4263	6429	SO:0001819	synonymous_variant	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48649309C>T	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.657C>T	17.37:g.48649309C>T						CACNA1G_ENST00000502264.1_Silent_p.F219F|CACNA1G_ENST00000510366.1_Silent_p.F219F|CACNA1G_ENST00000507609.1_Silent_p.F219F|CACNA1G_ENST00000507896.1_Silent_p.F219F|CACNA1G_ENST00000514181.1_Silent_p.F219F|CACNA1G_ENST00000507510.2_Silent_p.F219F|CACNA1G_ENST00000503485.1_Silent_p.F219F|CACNA1G_ENST00000507336.1_Silent_p.F219F|CACNA1G_ENST00000354983.4_Silent_p.F219F|CACNA1G_ENST00000515765.1_Silent_p.F219F|CACNA1G_ENST00000510115.1_Silent_p.F219F|CACNA1G_ENST00000429973.2_Silent_p.F219F|CACNA1G_ENST00000505165.1_Silent_p.F219F|CACNA1G_ENST00000360761.4_Silent_p.F219F|CACNA1G_ENST00000513689.2_Silent_p.F219F|CACNA1G_ENST00000359106.5_Silent_p.F219F|CACNA1G_ENST00000442258.2_Silent_p.F219F|CACNA1G_ENST00000514079.1_Silent_p.F219F|CACNA1G_ENST00000513964.1_Silent_p.F219F|CACNA1G_ENST00000515165.1_Silent_p.F219F|CACNA1G_ENST00000416767.4_Silent_p.F219F|CACNA1G_ENST00000515411.1_Silent_p.F219F|CACNA1G_ENST00000514717.1_Silent_p.F219F|CACNA1G_ENST00000358244.5_Silent_p.F219F|CACNA1G_ENST00000512389.1_Silent_p.F219F	p.F219F	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		5	1029	+	Breast(11;6.7e-17)		219					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Silent	SNP	ENST00000359106.5	37	c.657C>T	CCDS45730.1																																																																																				0.602	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		19	62	0	0	0	1	0	19	62				
ZNF573	126231	broad.mit.edu	37	19	38230909	38230909	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:38230909G>T	ENST00000590414.2	-	4	503	c.482C>A	c.(481-483)cCc>cAc	p.P161H	ZNF573_ENST00000536220.1_Missense_Mutation_p.P73H|ZNF573_ENST00000339503.4_Missense_Mutation_p.P103H|ZNF573_ENST00000357309.3_Missense_Mutation_p.P73H|ZNF573_ENST00000392138.1_Missense_Mutation_p.P74H|ZNF573_ENST00000585724.1_3'UTR			Q86YE8	ZN573_HUMAN	zinc finger protein 573	161					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			GCATTCATAGGGTCTCTCAAT	0.353																																						ENST00000339503.4																			0				NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(307-309)cCc>cAc		zinc finger protein 573							116.0	115.0	115.0					19																	38230909		2203	4300	6503	SO:0001583	missense	126231				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38230909G>T	AK074539	CCDS12508.1, CCDS54260.1, CCDS59381.1	19q13.12	2013-09-20			ENSG00000189144	ENSG00000189144		"""Zinc fingers, C2H2-type"", ""-"""	26420	protein-coding gene	gene with protein product						12477932	Standard	NM_152360		Approved	FLJ30921	uc002ohe.3	Q86YE8	OTTHUMG00000048183	ENST00000590414.2:c.482C>A	19.37:g.38230909G>T	ENSP00000465020:p.Pro161His					ZNF573_ENST00000392138.1_Missense_Mutation_p.P74H|ZNF573_ENST00000590414.2_Missense_Mutation_p.P161H|ZNF573_ENST00000536220.1_Missense_Mutation_p.P73H|ZNF573_ENST00000585724.1_3'UTR|ZNF573_ENST00000357309.3_Missense_Mutation_p.P73H	p.P103H	NM_152360.3	NP_689573.3	Q86YE8	ZN573_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)		8	809	-			141					B7WPE1|K7EJ45|Q6P1P1|Q7Z7Q3|Q8N2Q1|Q96BM3|Q96NH0	Missense_Mutation	SNP	ENST00000590414.2	37	c.308C>A	CCDS59381.1	.	.	.	.	.	.	.	.	.	.	g	10.60	1.394298	0.25205	.	.	ENSG00000189144	ENST00000392138;ENST00000536220;ENST00000357309;ENST00000339503;ENST00000427026	T;T;T;T	0.35605	1.3;1.3;1.3;1.3	2.86	-0.764	0.11027	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44180	0.1281	M	0.87456	2.885	0.22253	N	0.999254	P;D;D;P	0.58970	0.949;0.984;0.959;0.949	B;B;P;B	0.45610	0.354;0.354;0.487;0.354	T	0.42531	-0.9446	9	0.66056	D	0.02	.	7.6264	0.28214	0.3296:0.0:0.6704:0.0	.	74;103;141;73	Q86YE8-4;Q86YE8-3;Q86YE8;Q86YE8-2	.;.;ZN573_HUMAN;.	H	74;73;73;103;73	ENSP00000375983:P74H;ENSP00000440464:P73H;ENSP00000349861:P73H;ENSP00000340171:P103H	ENSP00000340171:P103H	P	-	2	0	ZNF573	42922749	0.004000	0.15560	0.813000	0.32504	0.941000	0.58515	0.944000	0.29043	0.015000	0.14971	-0.148000	0.13756	CCC		0.353	ZNF573-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459773.2	NM_152360		22	65	1	0	8.04996e-18	1	8.66918e-18	22	65				
WDR19	57728	broad.mit.edu	37	4	39230269	39230269	+	Silent	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr4:39230269C>T	ENST00000399820.3	+	17	2095	c.1941C>T	c.(1939-1941)gaC>gaT	p.D647D	WDR19_ENST00000515631.1_3'UTR|WDR19_ENST00000288634.7_Silent_p.D487D	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	647					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)				large_intestine(1)	1						CGGGGCCTGACGAACTGAGAC	0.418																																						ENST00000399820.3																			0				large_intestine(1)	1						c.(1939-1941)gaC>gaT		WD repeat domain 19							130.0	123.0	125.0					4																	39230269		1878	4103	5981	SO:0001819	synonymous_variant	57728				cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding	g.chr4:39230269C>T	AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	18340	protein-coding gene	gene with protein product	"""intraflagellar transport 144 homolog (Chlamydomonas)"""	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.1941C>T	4.37:g.39230269C>T						WDR19_ENST00000288634.7_Silent_p.D487D|WDR19_ENST00000515631.1_3'UTR	p.D647D	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN			17	2095	+			647					B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Silent	SNP	ENST00000399820.3	37	c.1941C>T	CCDS47042.1																																																																																				0.418	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360689.1			25	115	0	0	0	1	0	25	115				
FZD7	8324	broad.mit.edu	37	2	202899764	202899764	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:202899764G>C	ENST00000286201.1	+	1	455	c.394G>C	c.(394-396)Gag>Cag	p.E132Q	RP11-107N15.1_ENST00000608741.1_lincRNA	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7	132	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of ectodermal cell fate specification (GO:0042666)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of catenin import into nucleus (GO:0035412)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|stem cell maintenance (GO:0019827)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						CCAGGGCTGCGAGGCGCTCAT	0.657											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000286201.1																			0				breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						c.(394-396)Gag>Cag		frizzled family receptor 7							52.0	59.0	57.0					2																	202899764		2203	4297	6500	SO:0001583	missense	8324				axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr2:202899764G>C	AB010881	CCDS2351.1	2q33	2014-01-29	2014-01-29		ENSG00000155760	ENSG00000155760		"""GPCR / Class F : Frizzled receptors"""	4045	protein-coding gene	gene with protein product		603410	"""frizzled (Drosophila) homolog 7"", ""frizzled homolog 7 (Drosophila)"", ""frizzled 7, seven transmembrane spanning receptor"", ""frizzled family receptor 7"""			9707618, 9813155	Standard	NM_003507		Approved	FzE3	uc002uyw.1	O75084	OTTHUMG00000132841	ENST00000286201.1:c.394G>C	2.37:g.202899764G>C	ENSP00000286201:p.Glu132Gln		OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2133		p.E132Q	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN			1	455	+			132			FZ.		O94816|Q53S59|Q96B74	Missense_Mutation	SNP	ENST00000286201.1	37	c.394G>C	CCDS2351.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.583101	0.86748	.	.	ENSG00000155760	ENST00000286201	T	0.76709	-1.04	5.31	5.31	0.75309	Frizzled domain (5);	0.000000	0.85682	D	0.000000	D	0.86615	0.5975	L	0.60012	1.86	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.86682	0.1917	10	0.52906	T	0.07	.	18.9805	0.92754	0.0:0.0:1.0:0.0	.	132	O75084	FZD7_HUMAN	Q	132	ENSP00000286201:E132Q	ENSP00000286201:E132Q	E	+	1	0	FZD7	202608009	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.742000	0.74843	2.485000	0.83878	0.467000	0.42956	GAG		0.657	FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256314.1	NM_003507		24	101	0	0	0	1	0	24	101				
TPTE	7179	broad.mit.edu	37	21	10910342	10910342	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr21:10910342G>C	ENST00000361285.4	-	22	1743	c.1414C>G	c.(1414-1416)Ctg>Gtg	p.L472V	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Missense_Mutation_p.L454V|TPTE_ENST00000342420.5_Missense_Mutation_p.L434V	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	472	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCATCATACAGAGGTAGACCG	0.338																																						ENST00000298232.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(1360-1362)Ctg>Gtg		transmembrane phosphatase with tensin homology							221.0	211.0	214.0					21																	10910342		2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10910342G>C	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1414C>G	21.37:g.10910342G>C	ENSP00000355208:p.Leu472Val					TPTE_ENST00000361285.4_Missense_Mutation_p.L472V|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.L434V	p.L454V	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	21	1727	-			472			C2 tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.1360C>G	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	0.006	-2.060907	0.00386	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.85484	-1.99;-1.99;-1.99	2.25	-0.698	0.11280	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.390096	0.24209	N	0.040550	T	0.73473	0.3591	L	0.38953	1.18	0.09310	N	1	B;B;B	0.26775	0.007;0.047;0.159	B;B;B	0.35114	0.045;0.071;0.196	T	0.57516	-0.7798	10	0.19147	T	0.46	-6.3743	2.8969	0.05693	0.3071:0.2425:0.4505:0.0	.	434;454;472	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	V	454;472;434	ENSP00000298232:L454V;ENSP00000355208:L472V;ENSP00000344441:L434V	ENSP00000298232:L454V	L	-	1	2	TPTE	9932213	0.254000	0.23992	0.001000	0.08648	0.008000	0.06430	0.174000	0.16743	-0.190000	0.10465	-1.121000	0.02013	CTG		0.338	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			13	127	0	0	0	1	0	13	127				
INTS4	92105	broad.mit.edu	37	11	77652273	77652273	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:77652273G>A	ENST00000534064.1	-	9	977	c.943C>T	c.(943-945)Cat>Tat	p.H315Y	INTS4_ENST00000525931.1_5'Flank|INTS4_ENST00000529807.1_Missense_Mutation_p.H315Y	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	315					snRNA processing (GO:0016180)	integrator complex (GO:0032039)			INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			TCCAAGAAATGAGAACTGACT	0.358																																						ENST00000534064.1																		INTS4/GAB2(2)	0				NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32						c.(943-945)Cat>Tat		integrator complex subunit 4							42.0	39.0	40.0					11																	77652273		2200	4281	6481	SO:0001583	missense	92105				snRNA processing	integrator complex	protein binding	g.chr11:77652273G>A	BC015664	CCDS31644.1	11q14.1	2006-04-26			ENSG00000149262	ENSG00000149262			25048	protein-coding gene	gene with protein product		611348				16239144	Standard	NM_033547		Approved	INT4, MGC16733, MST093	uc001oys.3	Q96HW7	OTTHUMG00000166629	ENST00000534064.1:c.943C>T	11.37:g.77652273G>A	ENSP00000434466:p.His315Tyr					INTS4_ENST00000529807.1_Missense_Mutation_p.H315Y	p.H315Y	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)		9	977	-	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		315					Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Missense_Mutation	SNP	ENST00000534064.1	37	c.943C>T	CCDS31644.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.793435	0.50102	.	.	ENSG00000149262	ENST00000534064;ENST00000354849;ENST00000529807	D;T	0.85861	-2.04;1.48	4.81	3.91	0.45181	Armadillo-like helical (1);Armadillo-type fold (1);	0.061574	0.64402	D	0.000009	T	0.81293	0.4792	L	0.50333	1.59	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.78640	-0.2125	10	0.66056	D	0.02	-6.4743	13.1627	0.59552	0.0769:0.0:0.9231:0.0	.	315	Q96HW7	INT4_HUMAN	Y	315;166;315	ENSP00000434466:H315Y;ENSP00000433644:H315Y	ENSP00000346913:H166Y	H	-	1	0	INTS4	77329921	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.057000	0.71119	1.253000	0.44018	0.484000	0.47621	CAT		0.358	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390927.1	NM_033547		12	28	0	0	0	1	0	12	28				
FASTKD3	79072	broad.mit.edu	37	5	7866996	7866996	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:7866996C>G	ENST00000264669.5	-	2	1337	c.1201G>C	c.(1201-1203)Gaa>Caa	p.E401Q	FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000341013.6_5'Flank|MTRR_ENST00000502509.1_Intron|MTRR_ENST00000440940.2_5'Flank|MTRR_ENST00000264668.2_5'Flank	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	401					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						GAAAATTTTTCTGTTTGGCAA	0.403																																						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.(1201-1203)Gaa>Caa		FAST kinase domains 3							55.0	58.0	57.0					5																	7866996		2203	4300	6503	SO:0001583	missense	79072				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr5:7866996C>G	AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.1201G>C	5.37:g.7866996C>G	ENSP00000264669:p.Glu401Gln					FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000502509.1_Intron	p.E401Q	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN			2	1337	-			401					Q9BVD3	Missense_Mutation	SNP	ENST00000264669.5	37	c.1201G>C	CCDS3873.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.611361	0.66558	.	.	ENSG00000124279	ENST00000264669	T	0.17213	2.29	4.95	4.06	0.47325	.	0.329212	0.35677	N	0.003043	T	0.35307	0.0927	M	0.66939	2.045	0.39894	D	0.973819	D	0.71674	0.998	P	0.62740	0.906	T	0.17623	-1.0363	10	0.22706	T	0.39	-9.7849	15.2752	0.73737	0.0:0.8593:0.1407:0.0	.	401	Q14CZ7	FAKD3_HUMAN	Q	401	ENSP00000264669:E401Q	ENSP00000264669:E401Q	E	-	1	0	FASTKD3	7919996	1.000000	0.71417	0.005000	0.12908	0.934000	0.57294	5.288000	0.65651	1.243000	0.43853	0.655000	0.94253	GAA		0.403	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	NM_024091		19	52	0	0	0	1	0	19	52				
CLVS2	134829	broad.mit.edu	37	6	123319300	123319300	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:123319300G>T	ENST00000275162.5	+	2	1713	c.378G>T	c.(376-378)tgG>tgT	p.W126C	CLVS2_ENST00000368438.1_Intron	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	126	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)	p.W126C(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						CTGCCAATTGGGATCAGAGCA	0.468																																						ENST00000275162.4																			2	Substitution - Missense(2)	p.W126C(2)	lung(2)	breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						c.(376-378)tgG>tgT		clavesin 2							51.0	48.0	49.0					6																	123319300		2201	4293	6494	SO:0001583	missense	134829				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr6:123319300G>T	AK095527	CCDS34525.1	6q22.31	2009-10-14	2009-10-14	2009-10-14	ENSG00000146352	ENSG00000146352			23046	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 212"", ""chromosome 6 open reading frame 213"", ""retinaldehyde binding protein 1-like 2"""	C6orf212, C6orf213, RLBP1L2		19651769	Standard	NM_001010852		Approved	bA160A10.4	uc003pzi.1	Q5SYC1	OTTHUMG00000015495	ENST00000275162.5:c.378G>T	6.37:g.123319300G>T	ENSP00000275162:p.Trp126Cys					CLVS2_ENST00000368438.1_Intron	p.W126C	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN			2	1713	+			126			CRAL-TRIO.		B3KTG5|B4DHL0|C8UZT4|Q5SYC0	Missense_Mutation	SNP	ENST00000275162.5	37	c.378G>T	CCDS34525.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.167075	0.78339	.	.	ENSG00000146352	ENST00000275162	T	0.75477	-0.94	5.48	5.48	0.80851	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.055265	0.85682	D	0.000000	D	0.87446	0.6179	M	0.86573	2.825	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88363	0.2989	10	0.87932	D	0	-1.0412	19.5559	0.95347	0.0:0.0:1.0:0.0	.	126	Q5SYC1	CLVS2_HUMAN	C	126	ENSP00000275162:W126C	ENSP00000275162:W126C	W	+	3	0	CLVS2	123360999	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.645000	0.98471	2.861000	0.98227	0.650000	0.86243	TGG		0.468	CLVS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042042.2	NM_001010852		19	39	1	0	2.94398e-08	1	3.05817e-08	19	39				
FZD2	2535	broad.mit.edu	37	17	42635642	42635642	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:42635642G>C	ENST00000315323.3	+	1	718	c.586G>C	c.(586-588)Gag>Cag	p.E196Q		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	196					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cell-cell signaling (GO:0007267)|cochlea morphogenesis (GO:0090103)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|inner ear receptor cell development (GO:0060119)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|sensory perception of smell (GO:0007608)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CGCCACGCTGGAGCACCCCTT	0.736																																						ENST00000315323.3																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33						c.(586-588)Gag>Cag		frizzled family receptor 2							7.0	7.0	7.0					17																	42635642		2166	4224	6390	SO:0001583	missense	2535				axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr17:42635642G>C	L37882	CCDS11484.1	17q21.1	2014-01-29	2014-01-29			ENSG00000180340		"""GPCR / Class F : Frizzled receptors"""	4040	protein-coding gene	gene with protein product		600667	"""frizzled (Drosophila) homolog 2"", ""frizzled homolog 2 (Drosophila)"", ""frizzled 2, seven transmembrane spanning receptor"", ""frizzled family receptor 2"""			7558010, 9813155	Standard	NM_001466		Approved		uc002igx.2	Q14332		ENST00000315323.3:c.586G>C	17.37:g.42635642G>C	ENSP00000323901:p.Glu196Gln						p.E196Q	NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	1	718	+		Prostate(33;0.0181)	196					Q0VG82	Missense_Mutation	SNP	ENST00000315323.3	37	c.586G>C	CCDS11484.1	.	.	.	.	.	.	.	.	.	.	g	10.80	1.452927	0.26161	.	.	ENSG00000180340	ENST00000541149;ENST00000315323	T	0.73681	-0.77	4.2	4.2	0.49525	.	4.480360	0.00775	N	0.001237	T	0.67767	0.2928	N	0.19112	0.55	0.28762	N	0.90087	B	0.20261	0.043	B	0.20184	0.028	T	0.51834	-0.8655	10	0.24483	T	0.36	.	16.1629	0.81732	0.0:0.0:1.0:0.0	.	196	Q14332	FZD2_HUMAN	Q	272;196	ENSP00000323901:E196Q	ENSP00000323901:E196Q	E	+	1	0	FZD2	39991168	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	2.833000	0.48159	1.867000	0.54127	0.462000	0.41574	GAG		0.736	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457806.1	NM_001466		7	9	0	0	0	1	0	7	9				
WDR34	89891	broad.mit.edu	37	9	131396030	131396030	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr9:131396030G>A	ENST00000372715.2	-	9	1664	c.1604C>T	c.(1603-1605)gCg>gTg	p.A535V	WDR34_ENST00000483181.1_5'Flank	NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34	535						axoneme (GO:0005930)|centriole (GO:0005814)|ciliary basal body (GO:0036064)				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						CCCTCAGGCCGCCACCTCTGC	0.617																																						ENST00000372715.2																			0				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						c.(1603-1605)gCg>gTg		WD repeat domain 34							88.0	110.0	102.0					9																	131396030		2201	4299	6500	SO:0001583	missense	89891					cytoplasm		g.chr9:131396030G>A	BC011874	CCDS6906.2	9q34.11	2013-11-15	2013-02-19	2013-02-19	ENSG00000119333	ENSG00000119333		"""WD repeat domain containing"""	28296	protein-coding gene	gene with protein product		613363				19521662, 21953912, 24183451	Standard	NM_052844		Approved	DIC5, MGC20486, bA216B9.3, FAP133	uc004bvq.1	Q96EX3	OTTHUMG00000020750	ENST00000372715.2:c.1604C>T	9.37:g.131396030G>A	ENSP00000361800:p.Ala535Val						p.A535V	NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN			9	1664	-			535					Q5VXV4|Q9BV46	Missense_Mutation	SNP	ENST00000372715.2	37	c.1604C>T	CCDS6906.2	.	.	.	.	.	.	.	.	.	.	G	14.13	2.443756	0.43429	.	.	ENSG00000119333	ENST00000372715	T	0.68624	-0.34	5.42	5.42	0.78866	.	0.220010	0.46758	D	0.000280	T	0.53238	0.1784	L	0.47716	1.5	0.40451	D	0.980146	B	0.30193	0.272	B	0.20955	0.032	T	0.50651	-0.8803	10	0.17369	T	0.5	-6.9759	9.8885	0.41276	0.1552:0.0:0.8448:0.0	.	535	Q96EX3	WDR34_HUMAN	V	535	ENSP00000361800:A535V	ENSP00000361800:A535V	A	-	2	0	WDR34	130435851	1.000000	0.71417	0.178000	0.23040	0.172000	0.22775	5.202000	0.65169	2.551000	0.86045	0.561000	0.74099	GCG		0.617	WDR34-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054463.1	NM_052844		5	286	0	0	0	1	0	5	286				
PKHD1	5314	broad.mit.edu	37	6	51890958	51890958	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:51890958G>C	ENST00000371117.3	-	32	3925	c.3650C>G	c.(3649-3651)tCa>tGa	p.S1217*	PKHD1_ENST00000340994.4_Nonsense_Mutation_p.S1217*	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1217	IPT/TIG 7.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GCCTATTCCTGAGATGCTGAG	0.458																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(3649-3651)tCa>tGa		polycystic kidney and hepatic disease 1 (autosomal recessive)							58.0	59.0	59.0					6																	51890958		2203	4300	6503	SO:0001587	stop_gained	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51890958G>C	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.3650C>G	6.37:g.51890958G>C	ENSP00000360158:p.Ser1217*					PKHD1_ENST00000340994.4_Nonsense_Mutation_p.S1217*	p.S1217*	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			32	3925	-	Lung NSC(77;0.0605)		1217			IPT/TIG 7.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Nonsense_Mutation	SNP	ENST00000371117.3	37	c.3650C>G	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	45	11.869022	0.99612	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	.	.	.	5.87	4.08	0.47627	.	0.469884	0.21868	N	0.067924	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	.	10.2094	0.43132	0.1526:0.0:0.8474:0.0	.	.	.	.	X	1217	.	ENSP00000341097:S1217X	S	-	2	0	PKHD1	51998917	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	2.996000	0.49449	0.808000	0.34231	0.655000	0.94253	TCA		0.458	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		22	50	0	0	0	1	0	22	50				
SLFN12	55106	broad.mit.edu	37	17	33738832	33738832	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr17:33738832G>A	ENST00000394562.1	-	6	1785	c.1262C>T	c.(1261-1263)tCa>tTa	p.S421L	RP11-686D22.8_ENST00000587012.1_RNA|SLFN12_ENST00000460530.1_5'UTR|SLFN12_ENST00000452764.3_Missense_Mutation_p.S421L|SLFN12_ENST00000304905.5_Missense_Mutation_p.S421L			Q8IYM2	SLN12_HUMAN	schlafen family member 12	421							ATP binding (GO:0005524)			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GAAGATCAGTGAGCCCTTTCT	0.438																																						ENST00000394562.1																			0				breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(1261-1263)tCa>tTa		schlafen family member 12							105.0	106.0	106.0					17																	33738832		2203	4300	6503	SO:0001583	missense	55106						ATP binding	g.chr17:33738832G>A	AK001122	CCDS11295.1	17q12	2006-04-05			ENSG00000172123	ENSG00000172123			25500	protein-coding gene	gene with protein product		614955				12477932	Standard	NM_018042		Approved	FLJ10260	uc002hji.4	Q8IYM2	OTTHUMG00000132952	ENST00000394562.1:c.1262C>T	17.37:g.33738832G>A	ENSP00000378063:p.Ser421Leu					SLFN12_ENST00000304905.5_Missense_Mutation_p.S421L|SLFN12_ENST00000460530.1_5'UTR|SLFN12_ENST00000452764.3_Missense_Mutation_p.S421L	p.S421L			Q8IYM2	SLN12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	1785	-		Ovarian(249;0.17)	421					A8K711|Q9NP47	Missense_Mutation	SNP	ENST00000394562.1	37	c.1262C>T	CCDS11295.1	.	.	.	.	.	.	.	.	.	.	G	7.027	0.559904	0.13436	.	.	ENSG00000172123	ENST00000394562;ENST00000304905;ENST00000452764	T;T;T	0.03094	4.05;4.05;4.05	3.22	-2.64	0.06114	.	.	.	.	.	T	0.02571	0.0078	N	0.19112	0.55	0.09310	N	1	B	0.15930	0.015	B	0.04013	0.001	T	0.42916	-0.9423	9	0.54805	T	0.06	.	7.3878	0.26893	0.6161:0.0:0.3839:0.0	.	421	Q8IYM2	SLN12_HUMAN	L	421	ENSP00000378063:S421L;ENSP00000302077:S421L;ENSP00000394903:S421L	ENSP00000302077:S421L	S	-	2	0	SLFN12	30762945	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.879000	0.04188	-0.406000	0.07588	0.536000	0.68110	TCA		0.438	SLFN12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256491.1	NM_018042		40	80	0	0	0	1	0	40	80				
SOAT1	6646	broad.mit.edu	37	1	179319497	179319497	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr1:179319497G>A	ENST00000367619.3	+	14	1524	c.1381G>A	c.(1381-1383)Gaa>Aaa	p.E461K	SOAT1_ENST00000535686.1_Missense_Mutation_p.E197K|SOAT1_ENST00000540564.1_Missense_Mutation_p.E403K|SOAT1_ENST00000539888.1_Missense_Mutation_p.E396K	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	461					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol storage (GO:0010878)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|sterol O-acyltransferase activity (GO:0004772)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	TGTAGTACACGAATATGCCTT	0.398																																						ENST00000367619.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20						c.(1381-1383)Gaa>Aaa		sterol O-acyltransferase 1	Ezetimibe(DB00973)|Hesperetin(DB01094)						237.0	200.0	213.0					1																	179319497		2203	4300	6503	SO:0001583	missense	6646				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	g.chr1:179319497G>A	L21934	CCDS1330.1, CCDS58047.1, CCDS58048.1	1q25	2008-08-26	2008-08-26		ENSG00000057252	ENSG00000057252	2.3.1.26		11177	protein-coding gene	gene with protein product	"""acyl-Coenzyme A: cholesterol acyltransferase"""	102642	"""sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1"""	SOAT, STAT		8407899	Standard	NM_003101		Approved	ACAT	uc001gml.3	P35610	OTTHUMG00000035253	ENST00000367619.3:c.1381G>A	1.37:g.179319497G>A	ENSP00000356591:p.Glu461Lys					SOAT1_ENST00000539888.1_Missense_Mutation_p.E396K|SOAT1_ENST00000535686.1_Missense_Mutation_p.E197K|SOAT1_ENST00000540564.1_Missense_Mutation_p.E403K	p.E461K	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN			14	1524	+			461					A6NC40|A8K3P4|A9Z1V7|B4DU95|Q5T0X4|Q8N1E4	Missense_Mutation	SNP	ENST00000367619.3	37	c.1381G>A	CCDS1330.1	.	.	.	.	.	.	.	.	.	.	G	36	5.778804	0.96929	.	.	ENSG00000057252	ENST00000539888;ENST00000540564;ENST00000535686;ENST00000367619	T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.92198	0.7526	H	0.96430	3.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94023	0.7294	10	0.87932	D	0	-24.2327	17.7923	0.88558	0.0:0.0:1.0:0.0	.	403;461	A8K3P4;P35610	.;SOAT1_HUMAN	K	396;403;197;461	ENSP00000441356:E396K;ENSP00000445315:E403K;ENSP00000442503:E197K;ENSP00000356591:E461K	ENSP00000356591:E461K	E	+	1	0	SOAT1	177586120	1.000000	0.71417	0.526000	0.27913	0.982000	0.71751	9.620000	0.98373	2.793000	0.96121	0.655000	0.94253	GAA		0.398	SOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085286.2	NM_003101		15	38	0	0	0	1	0	15	38				
SPSB4	92369	broad.mit.edu	37	3	140785393	140785393	+	Silent	SNP	C	C	T			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:140785393C>T	ENST00000310546.2	+	2	1191	c.447C>T	c.(445-447)ctC>ctT	p.L149L		NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box containing 4	149	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						GCAGCCGCCTCTACCACGACG	0.716																																						ENST00000310546.2																			0				biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						c.(445-447)ctC>ctT		splA/ryanodine receptor domain and SOCS box containing 4							9.0	10.0	10.0					3																	140785393		2170	4257	6427	SO:0001819	synonymous_variant	92369				intracellular signal transduction	cytoplasm	protein binding	g.chr3:140785393C>T		CCDS3115.1	3q23	2008-02-05			ENSG00000175093	ENSG00000175093			30630	protein-coding gene	gene with protein product		611660				12076535	Standard	NM_080862		Approved	SSB-4	uc003ett.3	Q96A44	OTTHUMG00000160223	ENST00000310546.2:c.447C>T	3.37:g.140785393C>T							p.L149L	NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN			2	1191	+			149			B30.2/SPRY.			Silent	SNP	ENST00000310546.2	37	c.447C>T	CCDS3115.1																																																																																				0.716	SPSB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359727.1	NM_080862		3	4	0	0	0	1	0	3	4				
HLA-B	3106	broad.mit.edu	37	6	31324681	31324681	+	Missense_Mutation	SNP	C	C	T	rs137854653		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:31324681C>T	ENST00000412585.2	-	2	155	c.127G>A	c.(127-129)Gag>Aag	p.E43K		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	43	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						AAGCGGGGCTCCCCGCGGCCG	0.701									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																													ENST00000412585.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						c.(127-129)Gag>Aag		major histocompatibility complex, class I, B							21.0	17.0	18.0					6																	31324681		2112	4128	6240	SO:0001583	missense	3106	Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	;Lichen Sclerosis, Familial				g.chr6:31324681C>T	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4932	protein-coding gene	gene with protein product		142830	"""ankylosing spondylitis"""	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.127G>A	6.37:g.31324681C>T	ENSP00000399168:p.Glu43Lys						p.E43K	NM_005514.6	NP_005505.2					2	155	-								Q29764	Missense_Mutation	SNP	ENST00000412585.2	37	c.127G>A	CCDS34394.1	.	.	.	.	.	.	.	.	.	.	N	9.578	1.122934	0.20959	.	.	ENSG00000234745	ENST00000412585;ENST00000434333	T;T	0.00010	9.39;9.39	3.2	1.4	0.22301	MHC class I, alpha chain, alpha1/alpha2 (2);MHC classes I/II-like antigen recognition protein (2);MHC class I-like antigen recognition (2);	2.106960	0.03535	U	0.223072	T	0.00210	0.0006	H	0.94698	3.57	0.25937	N	0.982921	D;B;B	0.89917	1.0;0.148;0.001	D;B;B	0.85130	0.997;0.127;0.006	T	0.48514	-0.9029	10	0.72032	D	0.01	.	3.7509	0.08566	0.0:0.5542:0.2044:0.2414	.	43;43;18	P30480;P01889;Q92671	1B42_HUMAN;1B07_HUMAN;.	K	43;54	ENSP00000399168:E43K;ENSP00000405931:E54K	ENSP00000399168:E43K	E	-	1	0	HLA-B	31432660	0.000000	0.05858	0.445000	0.26908	0.006000	0.05464	-0.958000	0.03857	0.216000	0.20781	-0.480000	0.04831	GAG		0.701	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		40	17	0	0	0	1	0	40	17				
TGFBR2	7048	broad.mit.edu	37	3	30732942	30732942	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:30732942G>A	ENST00000295754.5	+	7	1937	c.1555G>A	c.(1555-1557)Gag>Aag	p.E519K	TGFBR2_ENST00000359013.4_Missense_Mutation_p.E544K	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	519	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)	p.E519K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GACGTTGACTGAGTGCTGGGA	0.617																																						ENST00000295754.5																			1	Substitution - Missense(1)	p.E519K(1)	upper_aerodigestive_tract(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53	GRCh37	CM064336	TGFBR2	M		c.(1555-1557)Gag>Aag		transforming growth factor, beta receptor II (70/80kDa)							71.0	61.0	64.0					3																	30732942		2203	4300	6503	SO:0001583	missense	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30732942G>A		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1555G>A	3.37:g.30732942G>A	ENSP00000295754:p.Glu519Lys					TGFBR2_ENST00000359013.4_Missense_Mutation_p.E544K	p.E519K	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN			7	1937	+			519			Protein kinase.		B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	ENST00000295754.5	37	c.1555G>A	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	G	33	5.278299	0.95459	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	T;T	0.63580	-0.05;-0.05	5.91	5.03	0.67393	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.095303	0.64402	D	0.000001	T	0.72112	0.3420	L	0.38175	1.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.992;0.996	T	0.75736	-0.3213	10	0.87932	D	0	.	16.3682	0.83343	0.0:0.0:0.8671:0.1329	.	519;544	P37173;D2JYI1	TGFR2_HUMAN;.	K	519;544;349	ENSP00000295754:E519K;ENSP00000351905:E544K	ENSP00000295754:E519K	E	+	1	0	TGFBR2	30707946	1.000000	0.71417	0.992000	0.48379	0.973000	0.67179	9.869000	0.99810	1.469000	0.48083	0.655000	0.94253	GAG		0.617	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			13	43	0	0	0	1	0	13	43				
REV3L	5980	broad.mit.edu	37	6	111696154	111696154	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:111696154C>G	ENST00000358835.3	-	14	3858	c.3404G>C	c.(3403-3405)aGa>aCa	p.R1135T	REV3L_ENST00000368802.3_Missense_Mutation_p.R1135T|REV3L_ENST00000368805.1_Missense_Mutation_p.R1135T|REV3L_ENST00000435970.1_Missense_Mutation_p.R1057T			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1135					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TTCTTCAGCTCTTGGATCTGT	0.388								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(3169-3171)aGa>aCa	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							106.0	114.0	112.0					6																	111696154		2199	4294	6493	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111696154C>G	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.3404G>C	6.37:g.111696154C>G	ENSP00000351697:p.Arg1135Thr					REV3L_ENST00000368802.3_Missense_Mutation_p.R1135T|REV3L_ENST00000368805.1_Missense_Mutation_p.R1135T|REV3L_ENST00000358835.3_Missense_Mutation_p.R1135T	p.R1057T			O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	15	3986	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	1135					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.3170G>C	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	C	10.14	1.269344	0.23221	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01484	4.93;4.93;4.93;4.84	5.54	4.68	0.58851	Ribonuclease H-like (1);	0.236373	0.38326	N	0.001731	T	0.00936	0.0031	L	0.50333	1.59	0.29638	N	0.844961	B	0.27559	0.181	B	0.26969	0.075	T	0.42241	-0.9463	10	0.72032	D	0.01	.	9.0048	0.36104	0.0:0.7881:0.0:0.2119	.	1135	O60673	DPOLZ_HUMAN	T	1135;1135;1135;1057	ENSP00000357792:R1135T;ENSP00000357795:R1135T;ENSP00000351697:R1135T;ENSP00000402003:R1057T	ENSP00000351697:R1135T	R	-	2	0	REV3L	111802847	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.210000	0.42816	1.346000	0.45694	0.585000	0.79938	AGA		0.388	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		33	102	0	0	0	1	0	33	102				
DOCK10	55619	broad.mit.edu	37	2	225666675	225666675	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr2:225666675delA	ENST00000258390.7	-	40	4418	c.4351delT	c.(4351-4353)tctfs	p.S1451fs	DOCK10_ENST00000409592.3_Frame_Shift_Del_p.S1445fs	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1451					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TTGGGGTTAGAAAGTGCATTT	0.373																																						ENST00000409592.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87						c.(4333-4335)ctfs		dedicator of cytokinesis 10							251.0	233.0	238.0					2																	225666675		1890	4116	6006	SO:0001589	frameshift_variant	55619						GTP binding	g.chr2:225666675delA	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.4351delT	2.37:g.225666675delA	ENSP00000258390:p.Ser1451fs					DOCK10_ENST00000258390.7_Frame_Shift_Del_p.S1451fs	p.S1445fs			Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	40	4446	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	1451					B3FL70|O75178|Q9NW06|Q9NXI8	Frame_Shift_Del	DEL	ENST00000258390.7	37	c.4333delT	CCDS46528.1																																																																																				0.373	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			31	73						31	73	---	---	---	---
COL6A5	256076	broad.mit.edu	37	3	130159322	130159322	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr3:130159322delC	ENST00000432398.2	+	35	6634	c.6140delC	c.(6139-6141)actfs	p.T2047fs	COL6A5_ENST00000265379.6_Frame_Shift_Del_p.T2047fs	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2047	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CACATCCAGACTTCCTTCCAA	0.408																																						ENST00000265379.6																			0				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						c.(6139-6141)atfs		collagen, type VI, alpha 5							94.0	91.0	92.0					3																	130159322		1903	4128	6031	SO:0001589	frameshift_variant	256076				axon guidance|cell adhesion	collagen		g.chr3:130159322delC	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.6140delC	3.37:g.130159322delC	ENSP00000390895:p.Thr2047fs					COL6A5_ENST00000432398.2_Frame_Shift_Del_p.T2047fs	p.T2047fs			A8TX70	CO6A5_HUMAN			35	6634	+			2047			Nonhelical region.|VWFA 9.		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Frame_Shift_Del	DEL	ENST00000432398.2	37	c.6140delC																																																																																					0.408	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		22	51						22	51	---	---	---	---
KCNN2	3781	broad.mit.edu	37	5	113699651	113699653	+	In_Frame_Del	DEL	ATC	ATC	-			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:113699651_113699653delATC	ENST00000512097.3	+	3	1553_1555	c.535_537delATC	c.(535-537)atcdel	p.I180del	KCNN2_ENST00000507750.1_3'UTR|KCNN2_ENST00000264773.3_In_Frame_Del_p.I180del			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	180					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	TCTCTCCACGATCATCCTGCTCG	0.478																																						ENST00000512097.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(535-537)del		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2																																				SO:0001651	inframe_deletion	3781					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr5:113699651_113699653delATC	AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.535_537delATC	5.37:g.113699654_113699656delATC	ENSP00000427120:p.Ile180del					KCNN2_ENST00000507750.1_3'UTR|KCNN2_ENST00000264773.3_In_Frame_Del_p.I180del	p.I180del			Q9H2S1	KCNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	3	1553_1555	+		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)	180					A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	In_Frame_Del	DEL	ENST00000512097.3	37	c.535_537delATC	CCDS4114.1																																																																																				0.478	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614		31	80						31	80	---	---	---	---
PITX1	5307	broad.mit.edu	37	5	134364847	134364848	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr5:134364847_134364848insA	ENST00000265340.7	-	3	982_983	c.566_567insT	c.(565-567)ctgfs	p.L189fs	PITX1_ENST00000506438.1_Frame_Shift_Ins_p.L189fs	NM_002653.4	NP_002644.4	P78337	PITX1_HUMAN	paired-like homeodomain 1	189	Interacts with PIT-1. {ECO:0000250}.				anatomical structure morphogenesis (GO:0009653)|branchiomeric skeletal muscle development (GO:0014707)|cartilage development (GO:0051216)|embryonic hindlimb morphogenesis (GO:0035116)|myoblast fate commitment (GO:0048625)|pituitary gland development (GO:0021983)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)			central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		GCGCTGGCGCCAGGCTCTTGGC	0.629																																						ENST00000265340.7																			0				central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14						c.(565-567)cgcfs		paired-like homeodomain 1																																				SO:0001589	frameshift_variant	5307					nucleolus	sequence-specific DNA binding	g.chr5:134364847_134364848insA	AF009648	CCDS4182.1	5q31.1	2011-06-20	2007-07-12		ENSG00000069011	ENSG00000069011		"""Homeoboxes / PRD class"""	9004	protein-coding gene	gene with protein product		602149	"""paired-like homeodomain transcription factor 1"""	BFT		9337397, 9070926	Standard	NM_002653		Approved	PTX1, POTX	uc010jea.3	P78337	OTTHUMG00000149983	ENST00000265340.7:c.567dupT	5.37:g.134364848_134364848dupA	ENSP00000265340:p.Leu189fs					PITX1_ENST00000506438.1_Frame_Shift_Ins_p.R189fs	p.R189fs	NM_002653.4	NP_002644.4	P78337	PITX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)	3	982_983	-			189			Interacts with PIT-1 (By similarity).		A8K3M0|D3DQB0|O14677|O60425|Q9BTI5	Frame_Shift_Ins	INS	ENST00000265340.7	37	c.566_567insT	CCDS4182.1																																																																																				0.629	PITX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251195.3			20	72						20	72	---	---	---	---
HIST1H2BN	8341	broad.mit.edu	37	6	27806507	27806509	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:27806507_27806509delAGA	ENST00000396980.3	+	1	68_70	c.68_70delAGA	c.(67-72)cagaag>cag	p.K25del	HIST1H2BN_ENST00000606613.1_In_Frame_Del_p.K25del|HIST1H2AK_ENST00000330180.2_5'Flank	NM_003520.3	NP_003511.1	Q99877	H2B1N_HUMAN	histone cluster 1, H2bn	25					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(3)|lung(3)|prostate(1)	8						ACAAAGGCCCAGAAGAAGGACGG	0.581																																						ENST00000606613.1																			0				central_nervous_system(1)|endometrium(3)|lung(3)|prostate(1)	8						c.(67-72)cag>c		histone cluster 1, H2bn																																				SO:0001651	inframe_deletion	8341				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27806507_27806509delAGA	Z83336	CCDS4633.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000233822	ENSG00000233822		"""Histones / Replication-dependent"""	4749	protein-coding gene	gene with protein product		602801	"""H2B histone family, member D"", ""histone 1, H2bn"""	H2BFD		9439656, 12408966	Standard	NM_003520		Approved	H2B/d	uc003njv.3	Q99877	OTTHUMG00000016397	ENST00000396980.3:c.68_70delAGA	6.37:g.27806510_27806512delAGA	ENSP00000380177:p.Lys25del					HIST1H2BN_ENST00000396980.3_In_Frame_Del_p.QK23del	p.QK23del			Q99877	H2B1N_HUMAN			1	129_131	+			23					B2R5L4|Q494S8|Q96FB7	In_Frame_Del	DEL	ENST00000396980.3	37	c.68_70delAGA	CCDS4633.1																																																																																				0.581	HIST1H2BN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043840.2	NM_003520		64	194						64	194	---	---	---	---
LOC153910	153910	broad.mit.edu	37	6	142860298	142860299	+	lincRNA	INS	-	-	T	rs143051118	byFrequency	TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr6:142860298_142860299insT	ENST00000447311.1	-	0	364					NR_027312.1																						ttaggccagtatttttttttta	0.47													|||unknown(HR)	546	0.109026	0.0416	0.1369	5008	,	,		19829	0.2173		0.1064	False		,,,				2504	0.0716					ENST00000447311.1																			0																																																			153910							g.chr6:142860298_142860299insT																													6.37:g.142860308_142860308dupT								NR_027312.1						0	364	-									RNA	INS	ENST00000447311.1	37																																																																																						0.470	RP11-440G9.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000042494.1			2	4						2	4	---	---	---	---
XKR5	389610	broad.mit.edu	37	8	6673270	6673270	+	RNA	DEL	A	A	-	rs532596157		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr8:6673270delA	ENST00000518724.1	-	0	1071							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		AGCCCATTGTAAAAAAAAAAA	0.502											OREG0018511	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000518724.1																			0				endometrium(1)|large_intestine(1)|lung(1)	3								XK, Kell blood group complex subunit-related family, member 5																																						389610					integral to membrane		g.chr8:6673270delA	AY358489		8p23.1	2006-01-12	2006-01-12		ENSG00000186530	ENSG00000275591			20782	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 5"""				Standard	NM_207411		Approved		uc022aqv.1	Q6UX68	OTTHUMG00000153652		8.37:g.6673270delA			OREG0018511	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	635					Q6UX68	XKR5_HUMAN	STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)	0	1071	-								Q5GH74	RNA	DEL	ENST00000518724.1	37																																																																																						0.502	XKR5-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000331969.2	NM_207411		3	3						3	3	---	---	---	---
THNSL1	79896	broad.mit.edu	37	10	25312196	25312197	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr10:25312196_25312197delAG	ENST00000524413.1	+	3	391_392	c.44_45delAG	c.(43-45)cagfs	p.Q15fs	THNSL1_ENST00000376356.4_Frame_Shift_Del_p.Q15fs			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	15						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)	AAGATAACACAGAAATGTTTTT	0.366																																						ENST00000524413.1																			0				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28						c.(43-45)cfs		threonine synthase-like 1 (S. cerevisiae)	L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)																																			SO:0001589	frameshift_variant	79896				threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity	g.chr10:25312196_25312197delAG	AK025655	CCDS7147.1	10p12.31	2008-02-05	2007-06-20		ENSG00000185875	ENSG00000185875			26160	protein-coding gene	gene with protein product		611260	"""threonine synthase-like 1 (bacterial)"""			12477932	Standard	NM_024838		Approved	FLJ22002	uc001isi.4	Q8IYQ7	OTTHUMG00000017828	ENST00000524413.1:c.44_45delAG	10.37:g.25312196_25312197delAG	ENSP00000434887:p.Gln15fs					THNSL1_ENST00000376356.4_Frame_Shift_Del_p.Q15fs	p.Q15fs			Q8IYQ7	THNS1_HUMAN			3	391_392	+			15					B3KWL1|D3DRV3|Q5VV21	Frame_Shift_Del	DEL	ENST00000524413.1	37	c.44_45delAG	CCDS7147.1																																																																																				0.366	THNSL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394913.1	NM_024838		18	63						18	63	---	---	---	---
ZMIZ1	57178	broad.mit.edu	37	10	81070787	81070789	+	In_Frame_Del	DEL	CTC	CTC	-	rs201441910		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr10:81070787_81070789delCTC	ENST00000334512.5	+	24	3514_3516	c.2942_2944delCTC	c.(2941-2946)gctcct>gct	p.P986del	ZMIZ1_ENST00000446377.2_Intron	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	986	Pro-rich.				artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CACAGTGGGGCTCCTCCTCCTCC	0.635																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(2941-2946)gct>g		zinc finger, MIZ-type containing 1				27,4237		10,7,2115						4.7	1.0			109	38,8216		16,6,4105	no	coding	ZMIZ1	NM_020338.3		26,13,6220	A1A1,A1R,RR		0.4604,0.6332,0.5193				65,12453				SO:0001651	inframe_deletion	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81070787_81070789delCTC	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.2942_2944delCTC	10.37:g.81070796_81070798delCTC	ENSP00000334474:p.Pro986del					ZMIZ1_ENST00000446377.2_Intron	p.AP981del	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		24	3514_3516	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		981			Pro-rich.		Q5JSH9|Q7Z7E6	In_Frame_Del	DEL	ENST00000334512.5	37	c.2942_2944delCTC	CCDS7357.1																																																																																				0.635	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		7	216						7	216	---	---	---	---
OR9G1	390174	broad.mit.edu	37	11	56468763	56468764	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:56468763_56468764insA	ENST00000312153.1	+	1	900_901	c.900_901insA	c.(901-903)aaafs	p.K301fs		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	301						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						AAGAGGCTCTGAAAAAACTTCT	0.376																																						ENST00000312153.1																			0				breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						c.(898-903)ctaaaafs		olfactory receptor, family 9, subfamily G, member 1																																				SO:0001589	frameshift_variant	390174							g.chr11:56468763_56468764insA	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"""GPCR / Class A : Olfactory receptors"""	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.906dupA	11.37:g.56468769_56468769dupA	ENSP00000309012:p.Lys301fs						p.LK300fs	NM_001005213.1	NP_001005213.1					1	900_901	+								Q6IEU9|Q8NGQ0	Frame_Shift_Ins	INS	ENST00000312153.1	37	c.900_901insA	CCDS31536.1																																																																																				0.376	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213		10	123						10	123	---	---	---	---
MTA2	9219	broad.mit.edu	37	11	62363756	62363756	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr11:62363756delG	ENST00000278823.2	-	11	1400	c.1011delC	c.(1009-1011)cccfs	p.P337fs	MTA2_ENST00000524902.1_Frame_Shift_Del_p.P164fs|MTA2_ENST00000527204.1_Frame_Shift_Del_p.P164fs	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	337					ATP-dependent chromatin remodeling (GO:0043044)|chromatin assembly or disassembly (GO:0006333)|DNA methylation (GO:0006306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	histone deacetylase complex (GO:0000118)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|histone deacetylase activity (GO:0004407)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						CTTACTAGGTGGGAATGTAGA	0.502																																						ENST00000278823.2																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						c.(1009-1011)ccfs		metastasis associated 1 family, member 2							113.0	97.0	102.0					11																	62363756		2202	4299	6501	SO:0001589	frameshift_variant	9219				chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:62363756delG	AB016591	CCDS8022.1	11q12-q13.1	2013-01-25	2004-12-15	2003-12-17	ENSG00000149480	ENSG00000149480		"""GATA zinc finger domain containing"""	7411	protein-coding gene	gene with protein product		603947	"""metastasis associated gene family, member 2"""	MTA1L1		9929979	Standard	NM_004739		Approved	MTA1-L1	uc001ntq.2	O94776	OTTHUMG00000167684	ENST00000278823.2:c.1011delC	11.37:g.62363756delG	ENSP00000278823:p.Pro337fs					MTA2_ENST00000527204.1_Frame_Shift_Del_p.P164fs|MTA2_ENST00000524902.1_Frame_Shift_Del_p.P164fs	p.P337fs	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN			11	1400	-			337					Q68DB1|Q9UQB5	Frame_Shift_Del	DEL	ENST00000278823.2	37	c.1011delC	CCDS8022.1																																																																																				0.502	MTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395578.1	NM_004739		17	23						17	23	---	---	---	---
UFM1	51569	broad.mit.edu	37	13	38933471	38933474	+	Splice_Site	DEL	GTGA	GTGA	-			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr13:38933471_38933474delGTGA	ENST00000239878.4	+	5	229		c.e5+1		UFM1_ENST00000379641.1_Splice_Site|UFM1_ENST00000379649.1_Splice_Site	NM_016617.2	NP_057701.1	P61960	UFM1_HUMAN	ubiquitin-fold modifier 1						protein ufmylation (GO:0071569)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				lung(2)|ovary(1)	3		Lung NSC(96;3.18e-06)|Prostate(109;0.00314)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;1.05e-08)|Epithelial(112;1.44e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000855)|BRCA - Breast invasive adenocarcinoma(63;0.00342)|GBM - Glioblastoma multiforme(144;0.0132)		CAGACTGCTGGTGAGTATTTGAAA	0.314																																						ENST00000379641.1																			0				lung(2)|ovary(1)	3						c.e4+1		ubiquitin-fold modifier 1				0,4264		0,0,2132						5.4	1.0		dbSNP_126	114	1,8247		0,1,4123	no	splice-5	UFM1	NM_016617.2		0,1,6255	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12511				SO:0001630	splice_region_variant	51569				protein ufmylation	cytoplasm|nucleus	protein binding	g.chr13:38933471_38933474delGTGA	AF208844	CCDS9366.1, CCDS66533.1	13q13.3	2008-02-05	2005-05-27	2005-05-27	ENSG00000120686	ENSG00000120686			20597	protein-coding gene	gene with protein product		610553	"""chromosome 13 open reading frame 20"""	C13orf20		15071506	Standard	NM_001286706		Approved	bA131P10.1	uc001uwu.3	P61960	OTTHUMG00000017409	ENST00000239878.4:c.190+1GTGA>-	13.37:g.38933471_38933474delGTGA						UFM1_ENST00000379649.1_Splice_Site|UFM1_ENST00000239878.4_Splice_Site				P61960	UFM1_HUMAN		all cancers(112;1.05e-08)|Epithelial(112;1.44e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000855)|BRCA - Breast invasive adenocarcinoma(63;0.00342)|GBM - Glioblastoma multiforme(144;0.0132)	4	244	+		Lung NSC(96;3.18e-06)|Prostate(109;0.00314)|Breast(139;0.0199)|Lung SC(185;0.0743)						Q14346|Q5VXS0|Q6IAG6|Q9CPX2|Q9NZF2	Splice_Site	DEL	ENST00000239878.4	37		CCDS9366.1																																																																																				0.314	UFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045989.1	NM_016617	Intron	30	97						30	97	---	---	---	---
TRDV2	28517	broad.mit.edu	37	14	22892202	22892202	+	RNA	DEL	A	A	-			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr14:22892202delA	ENST00000390469.2	+	0	520				AE000661.37_ENST00000535351.1_RNA|AE000661.37_ENST00000541008.1_RNA|AE000661.37_ENST00000537850.1_RNA|AE000661.37_ENST00000545670.1_RNA|AE000661.37_ENST00000514473.2_RNA					T cell receptor delta variable 2																		ctaaaaatacaaaaaaaaaaa	0.547																																						ENST00000514473.2																			0																																																			101929735							g.chr14:22892202delA	X15207		14q11.2	2012-02-07			ENSG00000211821	ENSG00000211821		"""T cell receptors / TRD locus"""	12263	other	T cell receptor gene						2526321	Standard	NG_001332		Approved	hDV102S1, MGC117421			OTTHUMG00000170843		14.37:g.22892202delA						AE000661.37_ENST00000535351.1_RNA|AE000661.37_ENST00000545670.1_RNA|AE000661.37_ENST00000537850.1_RNA|AE000661.37_ENST00000541008.1_RNA								0	225	-									RNA	DEL	ENST00000390469.2	37																																																																																						0.547	TRDV2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000410669.1	NG_001332		2	4						2	4	---	---	---	---
ARHGEF18	23370	broad.mit.edu	37	19	7527213	7527216	+	Frame_Shift_Del	DEL	GAGC	GAGC	-	rs2303140	byFrequency	TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:7527213_7527216delGAGC	ENST00000359920.6	+	11	2317_2320	c.2064_2067delGAGC	c.(2062-2067)atgagcfs	p.MS688fs	ARHGEF18_ENST00000319670.9_Frame_Shift_Del_p.MS530fs|CTD-2207O23.3_ENST00000593531.1_Frame_Shift_Del_p.*A646fs	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	688					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transforming growth factor beta receptor signaling pathway (GO:0007179)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.M530I(1)|p.M688I(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				AGTCGGCCATGAGCGAGAGTAAGT	0.652																																						ENST00000359920.6																			2	Substitution - Missense(2)	p.M530I(1)|p.M688I(1)	cervix(2)	central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23						c.(2062-2067)atfs		Rho/Rac guanine nucleotide exchange factor (GEF) 18																																				SO:0001589	frameshift_variant	23370				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:7527213_7527216delGAGC	AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	17090	protein-coding gene	gene with protein product	"""Rho-specific guanine nucleotide exchange factor p114"""		"""rho/rac guanine nucleotide exchange factor (GEF) 18"""			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.2064_2067delGAGC	19.37:g.7527213_7527216delGAGC	ENSP00000352995:p.Met688fs					CTD-2207O23.3_ENST00000593531.1_Frame_Shift_Del_p.*A646fs|ARHGEF18_ENST00000319670.9_Frame_Shift_Del_p.MS530fs	p.MS688fs	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN			11	2317_2320	+		Renal(5;0.0902)	688					A8MV62|B5ME81|O60274|Q6DD92	Frame_Shift_Del	DEL	ENST00000359920.6	37	c.2064_2067delGAGC	CCDS45946.1																																																																																				0.652	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436340.1	NM_015318		8	31						8	31	---	---	---	---
POLD1	5424	broad.mit.edu	37	19	50902177	50902178	+	In_Frame_Ins	INS	-	-	GAT			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:50902177_50902178insGAT	ENST00000440232.2	+	2	122_123	c.69_70insGAT	c.(70-72)gat>GATgat	p.24_24D>DD	POLD1_ENST00000595904.1_In_Frame_Ins_p.24_24D>DD|RN7SL324P_ENST00000577945.1_RNA|POLD1_ENST00000599857.1_In_Frame_Ins_p.24_24D>DD	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	24					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GGGGCCTCTGGGATGATGATGA	0.653								DNA polymerases (catalytic subunits)																														ENST00000440232.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(67-72)tgatga>tgGATatga	DNA polymerases (catalytic subunits)	polymerase (DNA directed), delta 1, catalytic subunit																																				SO:0001652	inframe_insertion	5424				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding	g.chr19:50902177_50902178insGAT		CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"""DNA polymerases"""	9175	protein-coding gene	gene with protein product	"""CDC2 homolog (S. cerevisiae)"""	174761	"""polymerase (DNA directed), delta 1, catalytic subunit (125kD)"""	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.79_81dupGAT	19.37:g.50902184_50902186dupGAT	ENSP00000406046:p.Asp27dup					POLD1_ENST00000599857.1_In_Frame_Ins_p.23_23*>WI|POLD1_ENST00000595904.1_In_Frame_Ins_p.23_23*>WI	p.23_23*>WI	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)	2	122_123	+		all_neural(266;0.0571)	23					Q8NER3|Q96H98	In_Frame_Ins	INS	ENST00000440232.2	37	c.69_70insGAT	CCDS12795.1																																																																																				0.653	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1			3	5						3	5	---	---	---	---
LILRB2	10288	broad.mit.edu	37	19	54780707	54780709	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr19:54780707_54780709delGAG	ENST00000391749.4	-	10	1706_1708	c.1435_1437delCTC	c.(1435-1437)ctcdel	p.L479del	LILRB2_ENST00000391746.1_In_Frame_Del_p.L479del|LILRB2_ENST00000471216.1_5'Flank|LILRB2_ENST00000314446.5_In_Frame_Del_p.L478del|LILRB2_ENST00000434421.1_In_Frame_Del_p.L363del|LILRB2_ENST00000391748.1_In_Frame_Del_p.L478del	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	479					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)	p.L479L(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ggatgaggaagaggaggaggagg	0.611																																						ENST00000391748.1																			1	Substitution - coding silent(1)	p.L479L(1)	lung(1)	breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1432-1434)del		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2																																				SO:0001651	inframe_deletion	10288				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54780707_54780709delGAG	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.1435_1437delCTC	19.37:g.54780716_54780718delGAG	ENSP00000375629:p.Leu479del					LILRB2_ENST00000391746.1_In_Frame_Del_p.L479del|LILRB2_ENST00000434421.1_In_Frame_Del_p.L363del|LILRB2_ENST00000314446.5_In_Frame_Del_p.L478del|LILRB2_ENST00000391749.4_In_Frame_Del_p.L479del	p.L478del	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	10	1559_1561	-	Ovarian(34;0.19)		479					A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	In_Frame_Del	DEL	ENST00000391749.4	37	c.1432_1434delCTC	CCDS12886.1																																																																																				0.611	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			8	170						8	170	---	---	---	---
NPEPL1	79716	broad.mit.edu	37	20	57282209	57282209	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr20:57282209delG	ENST00000356091.6	+	7	1141	c.853delG	c.(853-855)gggfs	p.G286fs	STX16-NPEPL1_ENST00000530122.1_3'UTR|NPEPL1_ENST00000525967.1_Frame_Shift_Del_p.G258fs|NPEPL1_ENST00000525817.1_Frame_Shift_Del_p.G238fs	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	286						cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			GCGAGACTGCGGGGGTGCTGC	0.682																																						ENST00000356091.6																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14						c.(853-855)ggfs		aminopeptidase-like 1							11.0	16.0	14.0					20																	57282209		1950	4056	6006	SO:0001589	frameshift_variant	79716				proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity	g.chr20:57282209delG	AK021645	CCDS46621.1, CCDS56200.1, CCDS56201.1	20q13.32	2008-07-02			ENSG00000215440	ENSG00000215440			16244	protein-coding gene	gene with protein product						14702039	Standard	NM_001204872		Approved	FLJ11583, bA261P9.2	uc010zzs.1	Q8NDH3	OTTHUMG00000033060	ENST00000356091.6:c.853delG	20.37:g.57282209delG	ENSP00000348395:p.Gly286fs					STX16-NPEPL1_ENST00000530122.1_3'UTR|NPEPL1_ENST00000525967.1_Frame_Shift_Del_p.G258fs|NPEPL1_ENST00000525817.1_Frame_Shift_Del_p.G238fs	p.G286fs	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)		7	1141	+	all_lung(29;0.0175)		286					A6NGZ0|B4DMW7|B7ZBN0|E9PN47|G5EA34|Q53G37|Q5W083|Q8TF28|Q8WUI2|Q9H1T6|Q9HAI5	Frame_Shift_Del	DEL	ENST00000356091.6	37	c.853delG	CCDS46621.1																																																																																				0.682	NPEPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080402.6	NM_024663		2	4						2	4	---	---	---	---
ETS2	2114	broad.mit.edu	37	21	40190567	40190568	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr21:40190567_40190568delTC	ENST00000360214.3	+	8	1268_1269	c.808_809delTC	c.(808-810)tctfs	p.S270fs	ETS2_ENST00000360938.3_Frame_Shift_Del_p.S270fs	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	270					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				CACCAACAATTCTGGTAAGATT	0.47																																						ENST00000360214.3																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18						c.(808-810)tfs		v-ets avian erythroblastosis virus E26 oncogene homolog 2																																				SO:0001589	frameshift_variant	2114				positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr21:40190567_40190568delTC		CCDS13659.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157557	ENSG00000157557			3489	protein-coding gene	gene with protein product		164740	"""v-ets erythroblastosis virus E26 oncogene homolog 2 (avian)"""			17986575	Standard	NM_001256295		Approved		uc002yxf.3	P15036	OTTHUMG00000090769	ENST00000360214.3:c.808_809delTC	21.37:g.40190567_40190568delTC	ENSP00000353344:p.Ser270fs					ETS2_ENST00000360938.3_Frame_Shift_Del_p.S270fs	p.S270fs	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN			8	1268_1269	+		Prostate(19;6.33e-08)|all_epithelial(19;0.123)	270					A6NM68|D3DSH6|Q53Y89	Frame_Shift_Del	DEL	ENST00000360214.3	37	c.808_809delTC	CCDS13659.1																																																																																				0.470	ETS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207544.1			69	152						69	152	---	---	---	---
LINC01399	104310353	broad.mit.edu	37	22	35561021	35561021	+	lincRNA	DEL	C	C	-	rs397831933|rs134326	byFrequency	TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chr22:35561021delC	ENST00000423311.1	-	0	512																											ttgctccactcccacttatgg	0.507													CCC|CCC|CC|deletion	4050	0.808706	0.3911	0.9251	5008	,	,		22235	0.999		0.9404	False		,,,				2504	0.9591					ENST00000423311.1																			0																																																			104310353							g.chr22:35561021delC																													22.37:g.35561021delC														0	512	-									RNA	DEL	ENST00000423311.1	37																																																																																						0.507	CTA-714B7.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000320640.1			4	3						4	3	---	---	---	---
UBL4A	8266	broad.mit.edu	37	X	153714159	153714160	+	Frame_Shift_Ins	INS	-	-	G	rs150392222		TCGA-CQ-7071-01A-12D-A30E-08	TCGA-CQ-7071-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60487985-a4da-4a09-8583-4c0d0614a514	dd1380d3-ddbc-4ea5-af5e-28c485cb7002	g.chrX:153714159_153714160insG	ENST00000369660.4	-	3	398_399	c.313_314insC	c.(313-315)cgcfs	p.R105fs	UBL4A_ENST00000477777.1_5'UTR|UBL4A_ENST00000369653.4_Frame_Shift_Ins_p.R105fs	NM_014235.3	NP_055050.1	P11441	UBL4A_HUMAN	ubiquitin-like 4A	105					cellular protein modification process (GO:0006464)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)	small conjugating protein ligase activity (GO:0019787)			endometrium(5)|lung(1)|urinary_tract(1)	7	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACTGAAGTGGCGGGCCAAGACT	0.629																																					Esophageal Squamous(74;88 1215 11149 34177 46777)	ENST00000369660.4																			0				endometrium(5)|lung(1)|urinary_tract(1)	7						c.(313-315)ccafs		ubiquitin-like 4A				15,3700		0,11,4,1578,533						2.0	0.8			85	29,6441		0,25,4,2328,1760	no	frameshift	UBL4A	NM_014235.3		0,36,8,3906,2293	A1A1,A1R,A1,RR,R		0.4482,0.4038,0.432				44,10141				SO:0001589	frameshift_variant	8266				protein modification process|tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	small conjugating protein ligase activity	g.chrX:153714159_153714160insG	J03589	CCDS14754.1	Xq28	2010-08-05	2005-09-27	2005-09-27	ENSG00000102178	ENSG00000102178			12505	protein-coding gene	gene with protein product		312070	"""ubiquitin-like 4"""	UBL4		2829204, 16872915	Standard	NM_014235		Approved	GDX, DXS254E, GET5, MDY2, TMA24	uc004flo.3	P11441	OTTHUMG00000013370	ENST00000369660.4:c.314dupC	X.37:g.153714162_153714162dupG	ENSP00000358674:p.Arg105fs					UBL4A_ENST00000477777.1_5'UTR|UBL4A_ENST00000369653.4_Frame_Shift_Ins_p.P105fs	p.P105fs	NM_014235.3	NP_055050.1	P11441	UBL4A_HUMAN			3	398_399	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		105					Q5HY80	Frame_Shift_Ins	INS	ENST00000369660.4	37	c.313_314insC	CCDS14754.1																																																																																				0.629	UBL4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037238.2	NM_014235		8	262						8	262	---	---	---	---
